format-version: 1.2 data-version: releases/2021-04-15 synonymtypedef: abbreviation "abbreviation" synonymtypedef: layperson "layperson term" synonymtypedef: obsolete_synonym "discarded/obsoleted synonym" synonymtypedef: plural_form "plural form" ontology: scdo property_value: http://purl.org/dc/elements/1.1/abstract "Sickle cell disease (SCD) is one of the most common monogenic diseases in humans with multiple phenotypic expressions that can manifest as both acute and chronic complications. Although described more than a century ago, challenges in comprehensive disease management and collaborative research on this disease are compounded by the complex molecular and clinical phenotypes of SCD, environmental and psychosocial factors, limited therapeutic options and ambiguous terminology. This ambiguous terminology has hampered the integration and interoperability of existing SCD knowledge, and SCD research translation. The SCD Ontology (SCDO), which is a community-driven integrative and universal knowledge representation system for SCD, overcomes this issue by providing a controlled vocabulary developed by a group of experts in both SCD and ontology design. SCDO is the first and most comprehensive standardized human- and machine-readable resource that unambiguously represents terminology and concepts about SCD for researchers, patients and clinicians. It is built around the central concept ‘hemoglobinopathy’, allowing inclusion of non-SCD haemoglobinopathies, such as thalassaemias, which may interfere with or influence SCD phenotypic manifestations. This collaboratively developed ontology constitutes a comprehensive knowledge management system and standardized terminology of various SCD-related factors. The SCDO will promote interoperability of different research datasets, facilitate seamless data sharing and collaborations, including meta-analyses within the SCD community, and support the development and curation of data-basing and clinical informatics in SCD." xsd:string property_value: http://purl.org/dc/elements/1.1/accessRights "Anyone can access the resource." xsd:string property_value: http://purl.org/dc/elements/1.1/accrualMethod "Manually, based on terms in existing ontologies and in collaboration with sickle cell disease (SCD) experts where necessary." xsd:string property_value: http://purl.org/dc/elements/1.1/accrualPeriodicity "As necessary. Not currently following a fixed frequency." xsd:string property_value: http://purl.org/dc/elements/1.1/accrualPolicy "Terms/classes are added as they are identified as necessary by the sickle cell disease (SCD) community." xsd:string property_value: http://purl.org/dc/elements/1.1/audience "Researchers in Hemoglobinopathy and/or sickle cell disease (SCD), SCD patients and clinicians." xsd:string property_value: http://purl.org/dc/elements/1.1/available "First draft was made available in BioPortal in May 2017" xsd:string property_value: http://purl.org/dc/elements/1.1/conformsTo "OBO Foundry standards." xsd:string property_value: http://purl.org/dc/elements/1.1/coverage "The field of sickle cell disease (SCD) research and care." xsd:string property_value: http://purl.org/dc/elements/1.1/isReferencedBy https://academic.oup.com/database/article/doi/10.1093/database/baz118/5626537 property_value: http://purl.org/dc/elements/1.1/isReferencedBy https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947307/ property_value: http://purl.org/dc/elements/1.1/isReferencedBy https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7411326/ property_value: http://purl.org/dc/elements/1.1/isReferencedBy https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549008/ property_value: http://purl.org/dc/elements/1.1/issued "April 2021" xsd:string property_value: http://purl.org/dc/elements/1.1/language "English" xsd:string property_value: http://purl.org/dc/elements/1.1/license "GPL-3.0" xsd:string property_value: http://purl.org/dc/elements/1.1/LicenseDocument https://www.gnu.org/licenses/gpl-3.0.en.html [Term] id: APOLLO_SV:00000241 name: Age Range Category def: "An information content entity specifying the upper and lower limit of a range of ages of continuants." [] xref: APOLLO_SV:00000241 is_a: SCDO:0300005 ! Research Characteristics property_value: SCDO:0000340 APOLLO_SV:00000241 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000403 xsd:string [Term] id: ARO:0000006 name: Erythromycin def: "Erythromycin is a macrolide antibiotic with a 14-carbon ring that has an antimicrobial spectrum similar to or slightly wider than that of penicillin, and is often used for people that have an allergy to penicillins. Erythromycin may possess bacteriocidal activity, particularly at higher concentrations by binding to the 50S subunit of the bacterial 70S rRNA complex, inhibiting peptidyl-tRNA translocation. Thus, protein synthesis and subsequently structure/function processes critical for life or replication are inhibited." [] synonym: "Abomacetin" EXACT [] synonym: "Emgel" EXACT [] synonym: "Eritromicina" EXACT [] synonym: "Erymax" EXACT [] synonym: "Erythrocin" EXACT [] synonym: "Erythromycin A" EXACT [] synonym: "Erythromycine" EXACT [] synonym: "Erythromycinum" EXACT [] synonym: "N-methylerythromycin A" EXACT [] xref: ARO:0000006 is_a: NCIT:C258 ! Antibiotic is_a: SCDO:0000922 ! Preventative Therapeutics relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care property_value: SCDO:0000340 http://purl.obolibrary.org/obo/ARO_0000006 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0003119 xsd:string [Term] id: ARO:0000054 name: Penicillin def: "Penicillin (sometimes abbreviated PCN) is a beta-lactam antibiotic used in the treatment of bacterial infections caused by susceptible, usually Gram-positive, organisms. It works by inhibiting the synthesis of the peptidoglycan layer of bacterial cell walls. The peptidoglycan layer is important for cell wall structural integrity, especially in Gram-positive organisms." [] synonym: "PCN" EXACT [] synonym: "Penicillins" EXACT [] xref: ARO:0000054 is_a: NCIT:C258 ! Antibiotic is_a: SCDO:0000922 ! Preventative Therapeutics relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 ARO:0000054 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000880 xsd:string [Term] id: ARO:0000064 name: Amoxycillin def: "Amoxicillin is a moderate-spectrum, bacteriolytic, beta-lactam antibiotic used to treat bacterial infections caused by susceptible microorganisms. A derivative of penicillin, it has a wider range of treatment but remains relatively ineffective against Gram-negative bacteria. It is commonly taken with clavulanic acid, a beta-lactamase inhibitor. Like other beta-lactams, amoxicillin interferes with the synthesis of peptidoglycan." [] synonym: "Amolin" EXACT [] synonym: "Amopenixin" EXACT [] synonym: "Amoxicilina" EXACT [] synonym: "Amoxicilline" EXACT [] synonym: "Amoxicillinum" EXACT [] synonym: "AMX" EXACT [] synonym: "Clamoxyl" EXACT [] synonym: "D-Amoxicillin" EXACT [] synonym: "Moxal" EXACT [] xref: ARO:0000064 is_a: ARO:0000054 ! Penicillin relationship: SCDO:1000018 HP:0001081 ! treats Cholelithiasis relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania property_value: SCDO:0000340 http://purl.obolibrary.org/obo/ARO_0000064 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0002381 xsd:string [Term] id: CHEBI:23888 name: Drug def: "Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." [] xref: CHEBI:23888 is_a: SCDO:0001152 ! Therapeutics property_value: SCDO:0000303 "Add sub-class \"Iron Chelator\" with sub-classes \"Deferoxamine\" and \"Deferiprone\" (see wikipedia page for \"Beta Thalassemia\"...mentions how they're used to treat beta thalassemia major).\nAlso add \"Deferoxamine\" and \"Deferiprone\" below \"Iron Chelation Therapy\"." xsd:string property_value: SCDO:0000340 CHEBI:23888 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000200 xsd:string [Term] id: CHEBI:35475 name: Non-Steroidal Anti-Inflammatory Drug def: "An anti-inflammatory drug that is not a steroid. In addition to anti-inflammatory actions, non-steroidal anti-inflammatory drugs have analgesic, antipyretic, and platelet-inhibitory actions. They act by blocking the synthesis of prostaglandins by inhibiting cyclooxygenase, which converts arachidonic acid to cyclic endoperoxides, precursors of prostaglandins." [] synonym: "Non-Steroidal Anti-Inflammatory Agent" EXACT [] xref: CHEBI:35475 is_a: SCDO:0000057 ! Anti-Inflammatory Agent relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CHEBI_35475 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0005809 xsd:string [Term] id: CHEBI:35482 name: Opioid def: "A narcotic or opioid substance, synthetic or semisynthetic agent producing profound analgesia, drowsiness, and changes in mood." [] synonym: "Opioid Analgesic" EXACT [] xref: CHEBI:35482 is_a: SCDO:0000050 ! Analgesic relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CHEBI_35482 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000836 xsd:string [Term] id: CHEBI:35493 name: Antipyretic def: "A drug that prevents or reduces fever by lowering the body temperature from a raised state. An antipyretic will not affect the normal body temperature if one does not have fever. Antipyretics cause the hypothalamus to override an interleukin-induced increase in temperature. The body will then work to lower the temperature and the result is a reduction in fever." [] synonym: "Anti-Pyretic" EXACT [] xref: CHEBI:35493 is_a: CHEBI:23888 ! Drug is_a: SCDO:0000922 ! Preventative Therapeutics relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CHEBI_35493 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0005335 xsd:string [Term] id: CHEBI:42797 name: Gabapentin def: "A gamma-amino acid that is cyclohexane substituted at position 1 by aminomethyl and carboxymethyl groups. Used for treatment of neuropathic pain and restless legs syndrome." [] synonym: "1-(Aminomethyl)cyclohexaneacetic acid" EXACT [] synonym: "Neurontin" EXACT [] xref: CHEBI:42797 is_a: CHEBI:23888 ! Drug is_a: SCDO:0000922 ! Preventative Therapeutics relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CHEBI_42797 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0007493 xsd:string [Term] id: CHEBI:50858 name: Corticosteroid def: "A natural or synthetic analogue of the hormones secreted by the adrenal gland." [] synonym: "Corticoides" EXACT [] synonym: "Corticosteroides" EXACT [] synonym: "Corticosteroids" EXACT [] xref: CHEBI:50858 is_a: SCDO:0000057 ! Anti-Inflammatory Agent property_value: SCDO:0000340 CHEBI:50858 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0003901 xsd:string [Term] id: CHEBI:5790 name: Hydromorphone def: "An opioid analgesic derived from morphine and used mainly as an analgesic. It has a shorter duration of action and is more potent than morphine." [] synonym: "3-hydroxy-17-methyl-4,5alpha-epoxymorphinan-6-one" EXACT [] xref: CHEBI:5790 is_a: CHEBI:35482 ! Opioid property_value: SCDO:0000340 http://www.drugbank.ca/drugs/DB00327 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000577 xsd:string [Term] id: CHEBI:60809 name: Adjuvant def: "Any pharmacological or immunological agent that modifies the effect of other agents such as drugs or vaccines while having few if any direct effects when given by itself." [] synonym: "Adjuvant Medicine" EXACT [] xref: CHEBI:60809 is_a: SCDO:0001152 ! Therapeutics relationship: SCDO:1000015 NCIT:C39547 ! modifies Treatment Efficacy property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CHEBI_60809 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000025 xsd:string [Term] id: CHEBI:6807 name: Methadone def: "A synthetic opioid that is used as the hydrochloride. It is an opioid analgesic that is primarily a mu-opioid agonist. It has actions and uses similar to those of morphine. It also has a depressant action on the cough center and may be given to control intractable cough associated with terminal lung cancer. Methadone is also used as part of the treatment of dependence on opioid drugs, although prolonged use of methadone itself may result in dependence." [] synonym: "6-(dimethylamino)-4,4-diphenylheptan-3-one" EXACT [] synonym: "Physeptone" EXACT [] xref: CHEBI:6807 is_a: CHEBI:35482 ! Opioid relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://www.drugbank.ca/drugs/DB00333 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000752 xsd:string [Term] id: CHEBI:6909 name: Metronidazole def: "A member of the class of imidazoles substituted at C-1, -2 and -5 with 2-hydroxyethyl, nitro and methyl groups respectively. It has activity against anaerobic bacteria and protozoa, and has a radiosensitising effect on hypoxic tumour cells. It may be given by mouth in tablets, or as the benzoate in an oral suspension. The hydrochloride salt can be used in intravenous infusions. Metronidazole is a prodrug and is selective for anaerobic bacteria due to their ability to intracellularly reduce the nitro group of metronidazole to give nitroso-containing intermediates. These can covalently bind to DNA, disrupting its helical structure, inducing DNA strand breaks and inhibiting bacterial nucleic acid synthesis, ultimately resulting in bacterial cell death." [] synonym: "Satric" EXACT [] synonym: "Trichazol" EXACT [] xref: CHEBI:6909 is_a: NCIT:C258 ! Antibiotic is_a: SCDO:0000922 ! Preventative Therapeutics relationship: SCDO:1000018 HP:0001081 ! treats Cholelithiasis relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CHEBI_6909 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0002912 xsd:string [Term] id: CHEBI:7852 name: Oxycodone def: "A semisynthetic derivative of codeine that acts as a narcotic analgesic more potent and addicting than codeine." [] comment: An extended-release (ER) form of oxycodone (Xtampza ER) was approved for the management of daily, around-the-clock pain management in April, 2016. synonym: "14-hydroxy-3-methoxy-17-methyl-4,5alpha-epoxymorphinan-6-one" EXACT [] synonym: "Dihydrone" EXACT [] xref: CHEBI:7852 is_a: CHEBI:35482 ! Opioid relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://www.drugbank.ca/drugs/DB00497 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000847 xsd:string [Term] id: CHMO:0001009 name: High-Performance Liquid Chromatography def: "Column chromatography where the mobile phase is a liquid, the stationary phase consists of very small particles and the inlet pressure is relatively high." [] synonym: "High Performance Liquid Chromatography" EXACT [] synonym: "High Pressure Liquid Chromatography" EXACT [] synonym: "High-Pressure Liquid Chromatography" EXACT [] synonym: "HPLC" EXACT [] xref: CHMO:0001009 is_a: SCDO:0000216 ! Chemical Assay is_a: SCDO:1000577 ! Type of SCD Test property_value: http://purl.org/dc/elements/1.1/source http://labtestsonline.org/understanding/analytes/hemoglobin-var/tab/test/ property_value: SCDO:0000303 "Perhaps change label to \"Hemoglobin by High Performance Liquid Chromatography\"? See dc:source provided." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CHMO_0001009 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000563 xsd:string [Term] id: CHMO:0002580 name: Colorimetric Test def: "A test which produces colour change in the sample." [] xref: CHMO:0002580 is_a: SCDO:0000120 ! Biochemical Assay property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CHMO_0002580 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000264 xsd:string [Term] id: CMO:0000001 name: Cardiovascular Measurement def: "Any value resulting from the quantification of a morphological or physiological parameter pertaining to the heart and/or blood vessels." [] xref: CMO:0000001 is_a: SCDO:0000728 ! Diagnostic Measurement property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CMO_0000001 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000186 xsd:string [Term] id: CMO:0000003 name: Blood Pressure Measurement def: "Measurement of the pressure, or force per area, exerted by circulating blood against the walls of the blood vessels. The pressure is dependent on the energy of the heart action, elasticity of the vessel walls and volume and viscosity of the blood." [] xref: CMO:0000003 is_a: CMO:0000001 ! Cardiovascular Measurement relationship: SCDO:1000193 SCDO:0001097 ! output of diagnostic device Sphygmomanometer property_value: SCDO:0000303 "There are many more specific sub-classes in the CMO. Are there any we want to include here?" xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CMO_0000003 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000144 xsd:string [Term] id: CMO:0000011 name: Whole Body Morphological Measurement def: "Morphological measurement involving the entire body of an organism." [] xref: CMO:0000011 is_a: CMO:0000021 ! Body Morphological Measurement property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CMO_0000011 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001245 xsd:string [Term] id: CMO:0000015 name: Body Temperature def: "The level of heat in an organism." [] xref: CMO:0000015 is_a: SCDO:0000728 ! Diagnostic Measurement relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:1000190 OBI:0002140 ! obtained via diagnostic tool Temperature Measurement Assay relationship: SCDO:1000772 MP:0005533 ! has possible finding Increased Body Temperature relationship: SCDO:1000772 MP:0005534 ! has possible finding Decreased Body Temperature property_value: SCDO:0000340 CMO:0000015 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000151 xsd:string [Term] id: CMO:0000021 name: Body Morphological Measurement def: "Measurement of the structure or forms of the entire body or parts of the body of an organism." [] synonym: "Anthropometric Measurement" EXACT [] synonym: "Anthropometrics" EXACT [] synonym: "Morphometry" EXACT [] xref: CMO:0000021 is_a: SCDO:0000728 ! Diagnostic Measurement property_value: SCDO:0000303 "Include the term \"Body Composition\" from PhenX? -- -- Any other relevant terms missing as sub-classes here?" xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CMO_0000021 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000150 xsd:string [Term] id: CMO:0000023 name: Blood Chemistry Measurement def: "A quantification of a parameter of the chemical composition of blood." [] xref: CMO:0000023 is_a: CMO:0000035 ! Blood Measurement property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CMO_0000023 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000136 xsd:string [Term] id: CMO:0000025 name: Red Blood Cell Count def: "The number of red blood cells in a specified volume of blood most commonly 1 cubic millimeter (i.e. 1 microliter) of peripheral venous blood." [] synonym: "Erythrocyte Count" EXACT [] synonym: "Erythrocyte Number" EXACT [] synonym: "Erythrocyte Numbers" EXACT [] synonym: "Red Blood Count" EXACT [] xref: CMO:0000025 is_a: CMO:0001356 ! Red Blood Cell Measurement relationship: SCDO:1000190 CMO:0000364 ! obtained via diagnostic tool Complete Blood Count relationship: SCDO:1000193 SCDO:0000504 ! output of diagnostic device Hematology Analyzer relationship: SCDO:1000772 HP:0020059 ! has possible finding Increased Red Blood Cell Count relationship: SCDO:1000772 HP:0020060 ! has possible finding Decreased Red Blood Cell Count relationship: SCDO:1000772 SCDO:1000822 ! has possible finding Normal Red Blood Cell Count property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CMO_0000025 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000973 xsd:string [Term] id: CMO:0000027 name: White Blood Cell Count def: "The number of white blood cells in a specified volume of blood." [] synonym: "Leukocyte Count" EXACT [] synonym: "White Corpuscle Count" EXACT [] xref: CMO:0000027 is_a: CMO:0002341 ! White Blood Cell Measurement relationship: SCDO:1000190 CMO:0000364 ! obtained via diagnostic tool Complete Blood Count relationship: SCDO:1000193 SCDO:0000504 ! output of diagnostic device Hematology Analyzer relationship: SCDO:1000772 HP:0001882 ! has possible finding Leukopenia relationship: SCDO:1000772 HP:0001974 ! has possible finding Leukocytosis relationship: SCDO:1000772 SCDO:1000823 ! has possible finding Normal White Blood Cell Count relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CMO_0000027 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001243 xsd:string [Term] id: CMO:0000029 name: Platelet Count def: "The number of platelets (thrombocytes) in a specified volume of blood, usually expressed as platelets per cubic millimeter of whole blood." [] synonym: "Blood Platelet count" EXACT [] synonym: "Blood Platelet Number" EXACT [] synonym: "Platelet Number" EXACT [] xref: CMO:0000029 is_a: CMO:0000921 ! Platelet Measurement relationship: SCDO:1000190 CMO:0000364 ! obtained via diagnostic tool Complete Blood Count relationship: SCDO:1000193 SCDO:0000504 ! output of diagnostic device Hematology Analyzer relationship: SCDO:1000772 HP:0001873 ! has possible finding Thrombocytopenia relationship: SCDO:1000772 HP:0001894 ! has possible finding Thrombocytosis relationship: SCDO:1000772 SCDO:1000824 ! has possible finding Normal Platelet Count property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CMO_0000029 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000906 xsd:string [Term] id: CMO:0000030 name: Blood Neutrophil Count def: "The number of granulocytes categorized as neutrophils in a specified volume of blood. A neutrophil is, or is in the process of becoming, a granular leucocyte having a nucleus with three to five lobes connected by threads of chromatin, cytoplasm containing very fine granules, and which is readily stainable with neutral dyes." [] synonym: "Neutrophil Granulocyte Count" EXACT [] xref: CMO:0000030 is_a: CMO:0000111 ! Blood Granulocyte Count property_value: SCDO:0000340 CMO:0000030 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000442 xsd:string [Term] id: CMO:0000035 name: Blood Measurement def: "A measurement of the blood, it's contents, cells or other factors contained within the blood." [] xref: CMO:0000035 is_a: SCDO:0000728 ! Diagnostic Measurement property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CMO_0000035 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000143 xsd:string [Term] id: CMO:0000036 name: Blood Cell Measurement def: "A value resulting from the quantification of a morphological or physiological parameter of blood cells, i.e. cells native to the circulation, including those of erythroid, lymphoid, myeloid and monocytic lineages. A cell is a membrane-enclosed protoplasmic mass constituting the smallest structural unit of an organism that is capable of independent functioning." [] xref: CMO:0000036 is_a: CMO:0000035 ! Blood Measurement property_value: SCDO:0000303 "Perhaps include missing sub-classes of \"Blood Cell Measurement\" from the Clinical Measurement Ontology?" xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CMO_0000036 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000135 xsd:string [Term] id: CMO:0000037 name: Hematocrit def: "Percentage of total blood volume that is made up of red blood cells." [] synonym: "Hct" EXACT [] synonym: "Packed Cell Volume" EXACT [] synonym: "Packed Red Blood Cell Volume" EXACT [] xref: CMO:0000037 is_a: CMO:0001356 ! Red Blood Cell Measurement relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CMO_0000037 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000503 xsd:string [Term] id: CMO:0000038 name: Mean Corpuscular Volume def: "A measure of the average volume or size of a single red blood cell. It is derived by dividing the total volume of packed red blood cells by the total red blood cell count." [] synonym: "MCV" EXACT [] synonym: "Mean Cell Volume" EXACT [] xref: CMO:0000038 is_a: CMO:0001356 ! Red Blood Cell Measurement relationship: SCDO:1000190 CMO:0000364 ! obtained via diagnostic tool Complete Blood Count relationship: SCDO:1000772 HP:0005518 ! has possible finding Increased Mean Corpuscular Volume relationship: SCDO:1000772 HP:0025066 ! has possible finding Decreased Mean Corpuscular Volume relationship: SCDO:1000772 SCDO:1000825 ! has possible finding Normal Mean Corpuscular Volume property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CMO_0000038 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000723 xsd:string [Term] id: CMO:0000057 name: Serum Creatinine Level def: "The amount of creatinine, a catabolic product of creatine phosphate used in skeletal muscle contraction found in a specified volume of serum." [] synonym: "Creatinine Level" EXACT [] xref: CMO:0000057 is_a: CMO:0000023 ! Blood Chemistry Measurement relationship: SCDO:0001297 NCIT:C17049 ! has essential measure Race relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:0001297 SCDO:0000567 ! has essential measure History of Kidney Failure Diagnostic Instrument relationship: SCDO:0001297 SCDO:0000570 ! has essential measure History of Type I and Type 2 Diabetes Diagnostic Instrument relationship: SCDO:1000190 SCDO:0000296 ! obtained via diagnostic tool Creatinine Blood Test relationship: SCDO:1000772 HP:0012101 ! has possible finding Decreased Serum Creatinine relationship: SCDO:1000772 SCDO:1000649 ! has possible finding Elevated Serum Creatinine relationship: SCDO:1000772 SCDO:1000829 ! has possible finding Normal Serum Creatinine property_value: SCDO:0000303 "Link to \"Glomerular Filtration Rate\"... which object property? Create a new one and suggest to RO? \"used to calculate\"?" xsd:string property_value: SCDO:0000340 CMO:0000057 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001042 xsd:string [Term] id: CMO:0000094 name: Respiratory System Measurement def: "A measurement to assess the morphological or physiological state of the respiratory system or portion of the respiratory system." [] xref: CMO:0000094 is_a: SCDO:0000728 ! Diagnostic Measurement property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CMO_0000094 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000995 xsd:string [Term] id: CMO:0000111 name: Blood Granulocyte Count def: "The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter." [] xref: CMO:0000111 is_a: CMO:0000366 ! Blood Differential White Blood Cell Count property_value: SCDO:0000340 CMO:0000111 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000441 xsd:string [Term] id: CMO:0000123 name: Blood Bilirubin Level def: "The amount of bilirubin found in a specific volume of blood." [] synonym: "Bilirubin Level" EXACT [] xref: CMO:0000123 is_a: CMO:0000023 ! Blood Chemistry Measurement relationship: SCDO:0001297 NCIT:C16564 ! has essential measure Ethnic Group relationship: SCDO:0001297 NCIT:C17049 ! has essential measure Race relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:1000190 SCDO:0000119 ! obtained via diagnostic tool Bilirubin Blood Test relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CMO_0000123 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000134 xsd:string [Term] id: CMO:0000195 name: Blood Flow Measurement def: "Any measurement of the movement of blood through the heart and blood vessels." [] synonym: "Circulation Measurement" EXACT [] xref: CMO:0000195 is_a: CMO:0000001 ! Cardiovascular Measurement property_value: SCDO:0000303 "Add any more from below \"circulation measurement\" in the CMO?\nSuggest to CMO \"Blood Flow Measurement\" be an exact synonym of \"Circulation Measurement\", as we have made it here.\nSuggest to CRISP that their \"blood flow measurement\" instead be \"Blood Flow Test\"." xsd:string property_value: SCDO:0000340 CMO:0000195 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000142 xsd:string [Term] id: CMO:0000204 name: Blood Coagulation Measurement def: "Measurement to assess the sequential process through which multiple factors of the blood interact to form an insoluble fibrin clot." [] xref: CMO:0000204 is_a: CMO:0000035 ! Blood Measurement property_value: SCDO:0000303 "Add other sub-classes of \"Blood Coagulation Measurement\" from the CMO?\nblood fibrinogen level?\nthrombin time?\nactivated clotting time (ACT)?\nplatelet aggregation measurement?\nbleeding time (BT)?" xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CMO_0000204 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000137 xsd:string [Term] id: CMO:0000210 name: Activated Partial Thromboplastin Time def: "The time needed for plasma to form a fibrin clot after the addition of calcium and a phospholipid reagent. It is used to evaluate the intrinsic clotting system." [] synonym: "APTT; Quick" EXACT [] xref: CMO:0000210 is_a: CMO:0000204 ! Blood Coagulation Measurement property_value: SCDO:0000340 CMO:0000210 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000014 xsd:string [Term] id: CMO:0000211 name: Prothrombin Time def: "Measurement of the clotting ability of fibrinogen, prothrombin, proaccelerin, proconvertin and Stuart factor, usually given in seconds to formation of clot after the addition of a tissue factor or thromboplastin." [] synonym: "PTT" EXACT [] xref: CMO:0000211 is_a: CMO:0000204 ! Blood Coagulation Measurement property_value: SCDO:0000340 CMO:0000211 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000933 xsd:string [Term] id: CMO:0000225 name: Arterial Blood Gas Measurement def: "Any measurement of a gas or gases dissolved in arterial blood, that is, blood which has absorbed oxygen in the lungs, including oxygen, nitrogen carbon dioxide and/or hydrogen." [] xref: CMO:0000225 is_a: CMO:0001321 ! Blood Gas Measurement property_value: SCDO:0000340 CMO:0000225 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000718 xsd:string [Term] id: CMO:0000256 name: Urine Measurement def: "Any measurement of urine, the fluid waste product excreted by the kidneys, or its components." [] xref: CMO:0000256 is_a: SCDO:0000728 ! Diagnostic Measurement property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CMO_0000256 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001214 xsd:string [Term] id: CMO:0000283 name: Partial Pressure of Carbon Dioxide def: "The force per unit area attributable to the carbon dioxide, a colorless, odorless, incombustible gas formed during respiration and composed of one atom of carbon and two atoms of oxygen, dissolved in a specified volume of blood, defined as the force per unit area exerted by carbon dioxide in a mixture of gases in equilibrium with such a sample of blood at the same temperature." [] synonym: "PaCO2" EXACT [] synonym: "Partial Pressure of Blood Carbon Dioxide" EXACT [] synonym: "Partial Pressure of Blood Carbon Dioxide (Pco2)" EXACT [] synonym: "Partial Pressure of Carbon Dioxide (PaCO2)" EXACT [] synonym: "Pco2" EXACT [] xref: CMO:0000283 is_a: CMO:0000225 ! Arterial Blood Gas Measurement relationship: SCDO:1000190 SCDO:0000071 ! obtained via diagnostic tool Arterial Blood Gas Test relationship: SCDO:1000772 SCDO:1000839 ! has possible finding Normal Partial Pressure of Carbon Dioxide relationship: SCDO:1000772 SCDO:1000840 ! has possible finding Decreased Partial Pressure of Carbon Dioxide relationship: SCDO:1000772 SCDO:1000841 ! has possible finding Increased Partial Pressure of Carbon Dioxide property_value: SCDO:0000340 CMO:0000283 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000719 xsd:string [Term] id: CMO:0000290 name: Mean Corpuscular Hemoglobin Level def: "The average amount of hemoglobin per red blood cell calculated by dividing the total mass of hemoglobin by the number of red blood cells in a volume of blood." [] synonym: "MCH" EXACT [] synonym: "Mean Cell Hemoglobin" EXACT [] synonym: "Mean Cell Hemoglobin Level" EXACT [] synonym: "Mean Corpuscular Haemoglobin" EXACT [] synonym: "Mean Corpuscular Haemoglobin Level" EXACT [] synonym: "Mean Corpuscular Hemoglobin" EXACT [] xref: CMO:0000290 is_a: CMO:0001356 ! Red Blood Cell Measurement relationship: SCDO:1000190 CMO:0000364 ! obtained via diagnostic tool Complete Blood Count relationship: SCDO:1000772 MP:0005561 ! has possible finding Increased Mean Corpuscular Hemoglobin relationship: SCDO:1000772 MP:0005562 ! has possible finding Decreased Mean Corpuscular Hemoglobin relationship: SCDO:1000772 SCDO:1000826 ! has possible finding Normal Mean Corpuscular Hemoglobin property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CMO_0000290 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000722 xsd:string [Term] id: CMO:0000291 name: Mean Corpuscular Hemoglobin Concentration def: "The amount of hemoglobin in a given volume of packed red blood cells and is often calculated by dividing the hemoglobin concentration by the hematocrit." [] synonym: "MCHC" EXACT [] synonym: "Mean Cell Hemoglobin Concentration" EXACT [] synonym: "Mean Corpuscular Haemoglobin Concentration" EXACT [] xref: CMO:0000291 is_a: CMO:0001356 ! Red Blood Cell Measurement relationship: SCDO:1000190 CMO:0000364 ! obtained via diagnostic tool Complete Blood Count relationship: SCDO:1000772 HP:0025547 ! has possible finding Decreased Mean Corpuscular Hemoglobin Concentration relationship: SCDO:1000772 HP:0025548 ! has possible finding Increased Mean Corpuscular Hemoglobin Concentration relationship: SCDO:1000772 SCDO:1000827 ! has possible finding Normal Mean Corpuscular Hemoglobin Concentration property_value: SCDO:0000303 "Add the sub-class \"mean corpuscular sickle hemoglobin concentration (MCSHC)\"? (see https://www.ncbi.nlm.nih.gov/pmc/articles/PMC290884/pdf/jcinvest00309-0076.pdf)" xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CMO_0000291 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000721 xsd:string [Term] id: CMO:0000364 name: Complete Blood Count def: "The calculation of the cellular elements of the blood, usually including cell counts for white and red blood cells and platelets." [] synonym: "Blood Cell Count" EXACT [] synonym: "Blood Cell Number" EXACT [] synonym: "CBC" EXACT [] synonym: "FBC" EXACT [] synonym: "Full Blood Count" EXACT [] xref: CMO:0000364 is_a: SCDO:0000133 ! Blood Test relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:0001297 SCDO:0000740 ! has essential measure Medication Inventory relationship: SCDO:0001297 SCDO:1000342 ! has essential measure History of Transfusion Diagnostic Instrument relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CMO_0000364 xsd:string property_value: SCDO:0000479 CBC:J.htm property_value: SCDO:0000479 "PhenX protocol: Complete Blood Count #220501" xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000270 xsd:string [Term] id: CMO:0000365 name: Total White Blood Cell Count def: "The total number of leukocytes in 1 cubic millimeter of peripheral venous blood." [] xref: CMO:0000365 is_a: CMO:0000027 ! White Blood Cell Count relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CMO_0000365 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001163 xsd:string [Term] id: CMO:0000366 name: Blood Differential White Blood Cell Count def: "The number of each type of leukocyte present in a specific volume of blood, usually 1 cubic millimeter." [] synonym: "Blood Differential Leukocyte Count" EXACT [] synonym: "Blood Differential WBC Count" EXACT [] synonym: "WBC Differential Count" EXACT [] xref: CMO:0000366 is_a: CMO:0000027 ! White Blood Cell Count property_value: SCDO:0000303 "Perhaps add sub-classes from \"Clinical Measurement Ontology\"?" xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CMO_0000366 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000140 xsd:string [Term] id: CMO:0000376 name: Total Serum Bilirubin Level def: "The complete or entire amount of bilirubin in a specified volume of serum, the clear liquid that separates from blood after it has clotted completely, i.e. blood plasma from which fibrinogen has been removed. Bilirubin is the bile pigment produced by breakdown of heme and reduction of biliverdin." [] xref: CMO:0000376 is_a: CMO:0000123 ! Blood Bilirubin Level relationship: SCDO:1000190 SCDO:0000119 ! obtained via diagnostic tool Bilirubin Blood Test relationship: SCDO:1000772 HP:0003573 ! has possible finding Increased Total Bilirubin relationship: SCDO:1000772 SCDO:1000835 ! has possible finding Normal Total Serum Bilirubin property_value: SCDO:0000340 CMO:0000376 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000500 xsd:string [Term] id: CMO:0000506 name: Hemoglobin Concentration def: "The amount of hemoglobin, the red oxygen-carrying pigment of erythrocytes, in a specified volume of blood, as calculated from the optical density of a solution of lysed red cells in which hemoglobin has been converted to cyanomethemoglobin and measured with a spectrophotometer." [] synonym: "ctHB" EXACT [] synonym: "Hbtotal" EXACT [] synonym: "Hemoglobin Level" EXACT [] synonym: "Total Hemoglobin" EXACT [] synonym: "Total Hemoglobin (Hbtotal)" EXACT [] xref: CMO:0000506 is_a: CMO:0000508 ! Hemoglobin Measurement relationship: SCDO:1000190 CMO:0000364 ! obtained via diagnostic tool Complete Blood Count relationship: SCDO:1000190 SCDO:0000071 ! obtained via diagnostic tool Arterial Blood Gas Test relationship: SCDO:1000772 HP:0020062 ! has possible finding Decreased Hemoglobin Concentration relationship: SCDO:1000772 HP:0020063 ! has possible finding Increased Hemoglobin Concentration relationship: SCDO:1000772 SCDO:1000783 ! has possible finding Normal Hemoglobin Concentration property_value: SCDO:0000340 CMO:0000506 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000523 xsd:string [Term] id: CMO:0000507 name: Hemoglobin Absorbance def: "The optical density as calculated from the intensity of light at a specified wavelength as it passes through a solution of lysed red blood cells." [] xref: CMO:0000507 is_a: CMO:0000508 ! Hemoglobin Measurement property_value: SCDO:0000340 CMO:0000507 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000249 xsd:string [Term] id: CMO:0000508 name: Hemoglobin Measurement def: "A measure of the oxygen carrying pigment of erythrocytes." [] xref: CMO:0000508 is_a: CMO:0000036 ! Blood Cell Measurement property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CMO_0000508 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000543 xsd:string [Term] id: CMO:0000665 name: Heart Contraction Pressure def: "Pressure exerted by the heart muscle in its maximally contracted state." [] xref: CMO:0000665 is_a: SCDO:1000317 ! Heart Measurement property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CMO_0000665 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000499 xsd:string [Term] id: CMO:0000921 name: Platelet Measurement def: "Any measurement of platelets, the disk-shaped structures found in the blood of mammals which play a vital role in blood coagulation. Platelets lack nuclei and DNA but contain active enzymes and mitochondria." [] xref: CMO:0000921 is_a: CMO:0000036 ! Blood Cell Measurement property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CMO_0000921 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000907 xsd:string [Term] id: CMO:0001321 name: Blood Gas Measurement def: "Any measurement of a gas or gases dissolved in the blood, including oxygen, nitrogen carbon dioxide and/or hydrogen." [] xref: CMO:0001321 is_a: CMO:0000035 ! Blood Measurement property_value: SCDO:0000340 CMO:0001321 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000312 xsd:string [Term] id: CMO:0001324 name: Oxygen Saturation def: "The amount of oxygen bound to hemoglobin in the blood expressed as a percentage of the maximal binding capacity." [] synonym: "HbO2" EXACT [] synonym: "Oxyhemoglobin Saturation" EXACT [] synonym: "Oxyhemoglobin Saturation (HbO2)" EXACT [] synonym: "SaO2" EXACT [] synonym: "Sats" EXACT [] synonym: "SO2" EXACT [] xref: CMO:0001324 is_a: CMO:0001321 ! Blood Gas Measurement property_value: SCDO:0000340 CMO:0001324 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000848 xsd:string [Term] id: CMO:0001356 name: Red Blood Cell Measurement def: "Any measurement of a single red blood cell, one of the hemoglobin-containing blood cells that transport oxygen and carbon dioxide to and from the tissues, or of all of the red blood cells in a sample of blood." [] synonym: "Erythrocyte Measurement" EXACT [] xref: CMO:0001356 is_a: CMO:0000036 ! Blood Cell Measurement property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CMO_0001356 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000974 xsd:string [Term] id: CMO:0002079 name: Birth Weight def: "The heaviness or degree to which the entire body of an organism at the point of or shortly after birth is drawn to the earth by gravity." [] synonym: "Body Weight of Neonate" EXACT [] synonym: "Neonatal Body Weight" EXACT [] xref: CMO:0002079 is_a: SCDO:0000152 ! Body Weight property_value: SCDO:0000340 CMO:0002079 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000311 xsd:string [Term] id: CMO:0002341 name: White Blood Cell Measurement def: "Any value resulting from the quantification of a morphological or physiological parameter of leukocytes, largely colorless blood corpuscles capable of ameboid movement, whose chief function is to protect the body against microorganisms and other disease-causing entities." [] xref: CMO:0002341 is_a: CMO:0000036 ! Blood Cell Measurement property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CMO_0002341 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001244 xsd:string [Term] id: CMO:0002520 name: Serum Haptoglobin Level def: "Measurement of the amount of haptoglobin in a specified sample of serum, the clear liquid that separates from blood after it has clotted completely, i.e. blood plasma from which fibrinogen has been removed. Haptoglobin is a serum alpha2 globulin glycoprotein, produced by the liver, that functions to bind free plasma hemoglobin, which allows degradative enzymes to gain access to the hemoglobin, while at the same time preventing loss of iron through the kidneys and protecting the kidneys from damage by hemoglobin." [] synonym: "Haptoglobin Level" EXACT [] synonym: "Haptoglobin Levels" EXACT [] xref: CMO:0002520 is_a: CMO:0000023 ! Blood Chemistry Measurement relationship: SCDO:0001297 NCIT:C16564 ! has essential measure Ethnic Group relationship: SCDO:0001297 NCIT:C17049 ! has essential measure Race relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:1000190 SCDO:0000466 ! obtained via diagnostic tool Haptoglobin Blood Test property_value: SCDO:0000340 CMO:0002520 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000467 xsd:string [Term] id: CMO:0002876 name: N-Terminal Pro-Brain Natriuretic Peptide Level def: "The amount of N-terminal (NT)-pro hormone BNP (Nppb) in a specified volume of blood." [] synonym: "Blood NH2-Terminal pro-B-Type Natriuretic Peptide Level" EXACT [] synonym: "BNPT Level" EXACT [] synonym: "N-Terminal Prohormone of Brain Natriuretic Peptide Level" EXACT [] synonym: "NT-proBNP Level" EXACT [] synonym: "NT-proBNP Measurement" EXACT [] xref: CMO:0002876 is_a: CMO:0000023 ! Blood Chemistry Measurement relationship: SCDO:0001297 NCIT:C16564 ! has essential measure Ethnic Group relationship: SCDO:0001297 NCIT:C17049 ! has essential measure Race relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:1000190 SCDO:0000787 ! obtained via diagnostic tool N-terminal Pro-brain Natriuretic Peptide Test property_value: SCDO:0000303 "Value given as 1 Decimal Place Nanogram per Liter (according to PhenX https://www.phenxtoolkit.org/protocols/view/810501)\n\nassociated with acute congestive heart failure (http://www.ebi.ac.uk/efo/EFO_0004745)" xsd:string property_value: SCDO:0000340 CMO:0002876 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000786 xsd:string [Term] id: DOID:0050731 name: Vitamin B12 Deficiency def: "A vitamin metabolic disorder that results from low blood levels of vitamin B12." [] synonym: "Cobalamin Deficiency" EXACT [] synonym: "Hypocobalaminemia" EXACT [] xref: DOID:0050731 is_a: SCDO:1000261 ! Avitaminosis property_value: SCDO:0000340 DOID:0050731 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0005733 xsd:string [Term] id: DOID:0060181 name: Ischemic Cholitis def: "A colitis caused by inadequate blood supply to the colon." [] xref: DOID:0060181 is_a: HP:0025031 ! Abnormality of the Digestive System relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa property_value: SCDO:0000303 "Is diagnosed by: abdominal computed tomography scan" xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/DOID_0060181 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0002870 xsd:string [Term] id: DOID:0111033 name: African Iron Overload def: "A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums." [] synonym: "Bantu Siderosis" EXACT [] synonym: "Iron Overload in Africa" EXACT [] xref: DOID:0111033 is_a: SCDO:1000281 ! Secondary Hemochromatosis property_value: SCDO:0000340 DOID:0111033 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000282 xsd:string [Term] id: DOID:1188 name: Mononeuropathy def: "A neuropathy that is characterized by damage to a single nerve, which results in loss of movement, sensation, or other function of that nerve." [] synonym: "Single Damaged Nerve" EXACT [] xref: DOID:1188 is_a: HP:0012639 ! Abnormal Nervous System Morphology relationship: SCDO:0000663 NCIT:C16809 ! diagnosed using tool Magnetic Resonance Imaging relationship: SCDO:0000663 NCIT:C18772 ! diagnosed using tool Personal Medical History relationship: SCDO:0000663 SCDO:0000963 ! diagnosed using tool Radiography relationship: SCDO:0000664 SCDO:0000822 ! treated with Occupational Therapy relationship: SCDO:0000664 SCDO:0000903 ! treated with Physiotherapy relationship: SCDO:0000664 SCDO:1000017 ! treated with Surgery relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors property_value: SCDO:0000340 DOID:1188 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000769 xsd:string [Term] id: DOID:1584 name: Acute Chest Syndrome def: "A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion." [] comment: From the DO: The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph. synonym: "Acute Chest Syndrome in Sickle Cell Disease" EXACT [] xref: DOID:1584 is_a: HP:0002086 ! Abnormality of the Respiratory System is_a: SCDO:1000000 ! Acute Phenotype relationship: SCDO:0000663 NCIT:C18772 ! diagnosed using tool Personal Medical History relationship: SCDO:0000663 SCDO:0000217 ! diagnosed using tool Chest X-Ray relationship: SCDO:0000663 SCDO:0000898 ! diagnosed using tool Physical Examination relationship: SCDO:0000664 NCIT:C15238 ! treated with Gene Therapy relationship: SCDO:0000664 NCIT:C258 ! treated with Antibiotic relationship: SCDO:0000664 SCDO:0000147 ! treated with Blood Transfusion relationship: SCDO:0000664 SCDO:0000506 ! treated with Hematopoietic Stem Cell Transplantation relationship: SCDO:0000664 SCDO:0000576 ! treated with Hydration Therapy relationship: SCDO:0000664 SCDO:0000580 ! treated with Hydroxyurea relationship: SCDO:0000664 SCDO:0000903 ! treated with Physiotherapy relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000303 "This definition was given by the WG: 'Acute onset of respiratory symptoms and/or signs and an X-ray consistent with alveolar consolidation but not atelectasis, involving at least one complete lung segment.\" With this definition source:The acute chest syndrome in sickle cell disease: incidence and risk factors. The Cooperative Study of Sickle Cell Disease. O. Castro, D. J. Brambilla, B. Thorington, C. A. Reindorf, R. B. Scott, P. Gillette, J. C. Vera, P. S. Levy Blood. 1994 Jul 15; 84(2): 643–649.\nHowever, the definition did not seem to come from this source, so the DO term was used instead." xsd:string property_value: SCDO:0000340 DOID:1584 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000015 xsd:string [Term] id: DOID:1826 name: Epilepsy def: "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions." [] xref: DOID:1826 is_a: HP:0000708 ! Behavioural Abnormality relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: SCDO:0000340 http://purl.obolibrary.org/obo/DOID_1826 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0008484 xsd:string [Term] id: DOID:2326 name: Gastroenteritis def: "A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen." [] xref: DOID:2326 is_a: IDO:0000586 ! Infection relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: SCDO:0000340 http://purl.obolibrary.org/obo/DOID_2326 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0007198 xsd:string [Term] id: DOID:4 name: Disease def: "A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism." [] xref: DOID:4 is_a: SCDO:0001000 ! SCDO relationship: SCDO:1000015 NCIT:C17047 ! modifies Quality of Life property_value: SCDO:0000340 http://purl.obolibrary.org/obo/DOID_4 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001365 xsd:string [Term] id: DOID:813 name: Septic Arthritis def: "An arthritis that involves infection by a pathogen located in a joint." [] synonym: "Infected Joint" EXACT [] synonym: "Infectious Arthritis" EXACT [] xref: DOID:813 is_a: HP:0000924 ! Abnormality of the Skeletal System is_a: IDO:0000586 ! Infection relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care property_value: SCDO:0000340 http://purl.obolibrary.org/obo/DOID_813 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0002067 xsd:string [Term] id: DOID:9220 name: Central Sleep Apnea def: "A sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing." [] synonym: "Primary Central Sleep Apnea" EXACT [] xref: DOID:9220 is_a: HP:0000708 ! Behavioural Abnormality property_value: SCDO:0000340 http://purl.obolibrary.org/obo/DOID_9220 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000200 xsd:string [Term] id: DRON:00017565 name: Xylometazoline def: "A nasal vasoconstricting decongestant drug which acts by binding to the same receptors as adrenaline. It is applied as a spray or as drops into the nose to ease inflammation and congestion of the nasal passageways. It binds alpha-adrenergic receptors to activate the adrenal system which causes systemic vasoconstriction, thereby easing nasal congestion." [] synonym: "Balminil" EXACT [] synonym: "Otrivin" EXACT [] synonym: "Xylomethazoline" EXACT [] xref: DRON:00017565 is_a: SCDO:0000791 ! Nasal Decongestants property_value: SCDO:0000340 http://www.drugbank.ca/drugs/DB06694 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001254 xsd:string [Term] id: DUO:0000018 name: Not for Profit Use Only def: "This requirement indicates that use of the data is limited to not-for-profit organizations and not-for-profit use, non-commercial use." [] xref: DUO:0000018 is_a: SCDO:1000408 ! Data Use Requirements property_value: SCDO:0000340 DUO:0000018 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000413 xsd:string [Term] id: DUO:0000019 name: Publication Required def: "This requirement indicates that requestor agrees to make results of studies using the data available to the larger scientific community." [] xref: DUO:0000019 is_a: SCDO:1000408 ! Data Use Requirements property_value: SCDO:0000340 DUO:0000019 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000416 xsd:string [Term] id: DUO:0000020 name: Collaboration Required def: "This could be coupled with a string describing the primary study investigator(s)." [] xref: DUO:0000020 is_a: SCDO:1000408 ! Data Use Requirements property_value: SCDO:0000340 DUO:0000020 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000409 xsd:string [Term] id: DUO:0000021 name: Ethics Approval Required def: "This requirement indicates that the requestor must provide documentation of local IRB/ERB approval." [] xref: DUO:0000021 is_a: SCDO:1000408 ! Data Use Requirements property_value: SCDO:0000340 DUO:0000021 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000410 xsd:string [Term] id: DUO:0000022 name: Geographical Restriction def: "This should be coupled with an ontology term describing the geographical location the restriction applies to." [] xref: DUO:0000022 is_a: SCDO:1000408 ! Data Use Requirements property_value: SCDO:0000340 DUO:0000022 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000411 xsd:string [Term] id: DUO:0000024 name: Publication Moratorium def: "This should be coupled with a date specified as ISO8601" [] xref: DUO:0000024 is_a: SCDO:1000408 ! Data Use Requirements property_value: SCDO:0000340 DUO:0000024 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000415 xsd:string [Term] id: DUO:0000025 name: Time Limit on Use def: "This should be coupled with an integer value indicating the number of months." [] xref: DUO:0000025 is_a: SCDO:1000408 ! Data Use Requirements property_value: SCDO:0000340 DUO:0000025 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000418 xsd:string [Term] id: DUO:0000026 name: User Specific Restriction def: "This requirement indicates that use is limited to use by approved users." [] xref: DUO:0000026 is_a: SCDO:1000408 ! Data Use Requirements property_value: SCDO:0000340 DUO:0000026 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000419 xsd:string [Term] id: DUO:0000027 name: Project Specific Restriction def: "This requirement indicates that use is limited to use within an approved project." [] xref: DUO:0000027 is_a: SCDO:1000408 ! Data Use Requirements property_value: SCDO:0000340 DUO:0000027 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000414 xsd:string [Term] id: DUO:0000028 name: Institution Specific Restriction def: "This requirement indicates that use is limited to use within an approved institution." [] xref: DUO:0000028 is_a: SCDO:1000408 ! Data Use Requirements property_value: SCDO:0000340 DUO:0000028 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000412 xsd:string [Term] id: DUO:0000029 name: Return to Database or Resource def: "This requirement indicates that the requestor must return derived/enriched data to the database/resource." [] xref: DUO:0000029 is_a: SCDO:1000408 ! Data Use Requirements property_value: SCDO:0000340 DUO:0000029 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000417 xsd:string [Term] id: ENVO:02500036 name: Pollution def: "An environmental system process that results in the introduction of contaminants into an environment." [] synonym: "Environmental Pollution" EXACT [] xref: ENVO:02500036 is_a: SCDO:0000897 ! Physical Environment property_value: SCDO:0000340 http://purl.obolibrary.org/obo/ENVO_02500036 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000912 xsd:string [Term] id: EUPATH:0000034 name: Alpha Thalassemia Genotype def: "A genotype information which is about the presence and degree of alpha-thalassemia, a form of thalassemia involving the number of functional HBA1 and HBA2 genes." [] xref: EUPATH:0000034 is_a: SCDO:0004061 ! Genotype relationship: RO:0003303 NCIT:C95504 ! causes condition Hemoglobin H Disease relationship: RO:0003303 NCIT:C95535 ! causes condition Alpha Thalassemia Trait relationship: RO:0003303 SCDO:0000042 ! causes condition Alpha Thalassemia relationship: SCDO:1000222 SCDO:1000240 ! causes molecular phenotype Reduced or Absent Hemoglobin A property_value: SCDO:0000340 EUPATH:0000034 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000216 xsd:string [Term] id: EUPATH:0000050 name: Routine Clinical Visit def: "A clinical visit that is primarily for a regular examination." [] xref: EUPATH:0000050 is_a: NCIT:C103165 ! Subject Visit Type property_value: SCDO:0000340 EUPATH:0000050 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000848 xsd:string [Term] id: EUPATH:0000215 name: Severe Anemia def: "An anemia with hemoglobin levels less than 5 gm/dL." [] xref: EUPATH:0000215 is_a: HP:0001903 ! Anemia relationship: SCDO:0000664 NCIT:C15238 ! treated with Gene Therapy relationship: SCDO:0000664 NCIT:C258 ! treated with Antibiotic relationship: SCDO:0000664 SCDO:0000147 ! treated with Blood Transfusion relationship: SCDO:0000664 SCDO:0000506 ! treated with Hematopoietic Stem Cell Transplantation relationship: SCDO:0000664 SCDO:0000580 ! treated with Hydroxyurea relationship: SCDO:0000664 SCDO:0000771 ! treated with Morphine relationship: SCDO:0000664 SCDO:0001329 ! treated with Folic Acid relationship: SCDO:0000664 SCDO:0008888 ! treated with Iron Chelation Therapy property_value: SCDO:0000340 http://purl.obolibrary.org/obo/EUPATH_0000215 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000055 xsd:string [Term] id: EUPATH:0000310 name: Information on Observation Details def: "An information content entity that is about a clinical visit." [] xref: EUPATH:0000310 is_a: SCDO:0006339 ! Research property_value: SCDO:0000340 EUPATH:0000310 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000851 xsd:string [Term] id: EUPATH:0021227 name: Blood Urea Concentration def: "A scalar measurement datum of the concentration of urea in blood that is a specified output of a blood test." [] synonym: "Serum Urea Concentration" EXACT [] xref: EUPATH:0021227 is_a: CMO:0000023 ! Blood Chemistry Measurement relationship: SCDO:1000190 SCDO:1000605 ! obtained via diagnostic tool Blood Urea Analysis property_value: SCDO:0000340 EUPATH:0021227 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000603 xsd:string [Term] id: ExO:0000034 name: Occupation def: "An individual attribute that is the usual or principal work or business of an individual." [] synonym: "Career" EXACT [] synonym: "Employment" EXACT [] synonym: "Job" EXACT [] synonym: "Vocation" EXACT [] xref: ExO:0000034 is_a: NCIT:C19332 ! Personal Attribute is_a: SCDO:0001090 ! Socioeconomic Factors is_a: SCDO:1000157 ! Quality of Life Related Personal Attribute property_value: SCDO:0000340 http://purl.obolibrary.org/obo/ExO_0000034 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000821 xsd:string [Term] id: ExO:0000048 name: Built Environment def: "Human-made surroundings that provide the setting for human activity, ranging in scale from personal shelter and buildings to neighborhoods and cite, and can often include their supporting infrastructure, such as water supply or energy networks." [] xref: ExO:0000048 is_a: SCDO:0000897 ! Physical Environment property_value: SCDO:0000340 ExO:0000048 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000167 xsd:string [Term] id: GAZ:00000448 name: Geographic Location def: "A reference to a place on the Earth, by its name or by its geographical location." [] synonym: "Geographic Region" EXACT [] xref: GAZ:00000448 is_a: SCDO:0000897 ! Physical Environment property_value: SCDO:0000340 http://purl.obolibrary.org/obo/GAZ_00000448 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000451 xsd:string [Term] id: GSSO:000109 name: Intersex def: "Intersex is an umbrella term with a complex history. It is usually used to refer to persons with congenital conditions which involve differences in the many intertwined processes of sexual development." [] xref: GSSO:000109 is_a: NCIT:C91106 ! Clinical or Research Assessment Answer property_value: SCDO:0000340 GSSO:000109 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000672 xsd:string [Term] id: GSSO:003239 name: Ethical Principle def: "Principles which provide a framework within which ethical dilemmas and other problems may be analyzed." [] xref: GSSO:003239 is_a: SCDO:1000430 ! Ethics Related Concept property_value: SCDO:0000340 GSSO:003239 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000427 xsd:string [Term] id: HP:0000005 name: Mode of Inheritance def: "The pattern in which a particular genetic trait or disorder is passed from one generation to the next." [] synonym: "Inheritance" EXACT [] xref: HP:0000005 is_a: SCDO:0001000 ! SCDO property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0000005 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001367 xsd:string [Term] id: HP:0000006 name: Autosomal Dominant def: "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [] synonym: "Autosomal Dominant Form" EXACT [] synonym: "Autosomal Dominant Inheritance" EXACT [] synonym: "Autosomal Dominant Predisposition" EXACT [] xref: HP:0000006 is_a: HP:0000005 ! Mode of Inheritance property_value: SCDO:0000340 HP:0000006 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000140 xsd:string [Term] id: HP:0000007 name: Autosomal Recessive def: "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygous (two copies of the same mutant allele) or compound heterozygous (whereby each copy of a gene has a distinct mutant allele)." [] synonym: "Autosomal Recessive Form" EXACT [] synonym: "Autosomal Recessive Inheritance" EXACT [] synonym: "Autosomal Recessive Predisposition" EXACT [] xref: HP:0000007 is_a: HP:0000005 ! Mode of Inheritance property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0000007 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001368 xsd:string [Term] id: HP:0000027 name: Azoospermia def: "Absence of any measurable level of sperm in a male's semen." [] synonym: "Absent Sperm in Semen" EXACT [] xref: HP:0000027 is_a: HP:0000080 ! Abnormality of Reproductive System Physiology property_value: SCDO:0000340 HP:0000027 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000092 xsd:string [Term] id: HP:0000044 name: Hypogonadotropic Hypogonadism def: "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [] synonym: "Hypogonadotropic Hypogonadism" EXACT [] synonym: "Secondary Hypogonadism" EXACT [] xref: HP:0000044 is_a: HP:0000080 ! Abnormality of Reproductive System Physiology property_value: SCDO:0000340 HP:0000044 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0002903 xsd:string [Term] id: HP:0000077 name: Abnormality of the Kidney def: "An abnormality of the kidney." [] synonym: "Abnormal Kidney" EXACT [] synonym: "Anomaly of the Kidney" EXACT [] synonym: "Renal Anomaly" EXACT [] xref: HP:0000077 is_a: HP:0000079 ! Abnormality of the Urinary System property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0000077 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0002133 xsd:string [Term] id: HP:0000078 name: Abnormality of the Genital System def: "An abnormality of the genital system." [] synonym: "Genital Abnormalities" EXACT [] synonym: "Genital Abnormality" EXACT [] synonym: "Genital Anomalies" EXACT [] synonym: "Genital Defects" EXACT [] xref: HP:0000078 is_a: HP:0000118 ! Abnormal Phenotype property_value: SCDO:0000340 HP:0000078 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000263 xsd:string [Term] id: HP:0000079 name: Abnormality of the Urinary System def: "An abnormality of the urinary system." [] synonym: "Anomaly of the Urinary System" EXACT [] synonym: "Urinary Tract Abnormalities" EXACT [] synonym: "Urinary Tract Abnormality" EXACT [] synonym: "Urinary Tract Anomalies" EXACT [] synonym: "Urinary Tract Anomaly" EXACT [] xref: HP:0000079 is_a: HP:0000118 ! Abnormal Phenotype property_value: SCDO:0000340 HP:0000079 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001347 xsd:string [Term] id: HP:0000080 name: Abnormality of Reproductive System Physiology def: "An abnormal functionality of the genital system." [] synonym: "Abnormality of Genital Physiology" EXACT [] xref: HP:0000080 is_a: HP:0000078 ! Abnormality of the Genital System property_value: SCDO:0000340 HP:0000080 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000270 xsd:string [Term] id: HP:0000084 name: Kidney Failure def: "Failure of the kidneys to adequately filter toxins and waste products from the blood; classified as acute (as in acute kidney injury) or chronic (as in chronic kidney disease); a number of other diseases or health problems may cause either form of renal failure to occur." [] comment: Treatment is dependent upon etiology and acuity. If refractory to medical therapy, renal replacement or dialysis may be indicated. synonym: "Renal Failure" EXACT [] synonym: "Renal Insufficiency" EXACT [] xref: HP:0000084 is_a: HP:0000077 ! Abnormality of the Kidney is_a: SCDO:1000383 ! Renal Complication relationship: SCDO:0000663 NCIT:C17241 ! diagnosed using tool Urine Test relationship: SCDO:0000664 SCDO:1000004 ! treated with Renal Replacement Therapy relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors relationship: SCDO:1000220 CMO:0000057 ! diagnosed using measurement Serum Creatinine Level relationship: SCDO:1000220 SCDO:0001210 ! diagnosed using measurement Urine Albumin Excretion Rate relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://purl.obolibrary.org/obo/MP_0003606 xsd:string property_value: SCDO:0000468 "Variable" xsd:string property_value: SCDO:0000472 "May be Acute (acute kidney injury) or chronic (chronic kidney disease)." xsd:string property_value: SCDO:0000661 "Has a variety of causes - dependent upon acuity - see definitions for acute kidney injury (acute renal failure) and chronic kidney disease." xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000674 xsd:string [Term] id: HP:0000096 name: Glomerulosclerosis def: "Scarring and fibrosis within the glomerulus." [] synonym: "Glomerular Sclerosis" EXACT [] synonym: "Renal Glomerular Fibrosis" EXACT [] xref: HP:0000096 is_a: HP:0000077 ! Abnormality of the Kidney relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: http://purl.org/dc/elements/1.1/source "NHLBI 2014 Guidelines" xsd:string property_value: SCDO:0000340 HP:0000096 property_value: SCDO:0000661 "Any form of injury to the kidney can lead to glomerulosclerosis." xsd:string property_value: SCDO:0000662 "Histologically noted by scarring and fibrosis in the glomerulus." xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000460 xsd:string [Term] id: HP:0000097 name: Focal Segmental Glomerulosclerosis def: "Segmental accumulation of scar tissue in individual (but not all) glomeruli." [] synonym: "Focal and Segmental Glomerular Sclerosis" EXACT [] synonym: "Focal and Segmental Glomerulosclerosis" EXACT [] synonym: "Focal Glomerulosclerosis" EXACT [] xref: HP:0000097 is_a: HP:0000096 ! Glomerulosclerosis property_value: SCDO:0000340 HP:0000097 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0009968 xsd:string [Term] id: HP:0000099 name: Glomerulonephritis def: "Inflammation of the renal glomeruli." [] synonym: "Glomerular Nephritis" EXACT [] synonym: "GN" EXACT [] xref: HP:0000099 is_a: HP:0000123 ! Nephritis relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors relationship: SCDO:1000219 SCDO:0000508 ! diagnosed by Hematuria relationship: SCDO:1000219 SCDO:0000932 ! diagnosed by Proteinuria relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 HP:0000099 property_value: SCDO:0000468 "May occur at any age." xsd:string property_value: SCDO:0000661 "Variety of causes - in sickle cell disease, most common lesion is focal segmental glomerulosclerosis (FSGS) but also reported Membranoproliferative glomerulonephritis and other forms of glomerulonephritis." xsd:string property_value: SCDO:0000662 "Patients with hematuria may have dark-colored urine. Glomerulonephritis may lead to the proteinuria and \"foamy\" appearance of the urine. If the latter is substantial, patients may develop clinically evident edema." xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000458 xsd:string [Term] id: HP:0000112 name: Nephropathy def: "A nonspecific term referring to disease or damage of the kidneys." [] synonym: "Kidney Damage" EXACT [] synonym: "Kidney Disease" EXACT [] xref: HP:0000112 is_a: HP:0000077 ! Abnormality of the Kidney relationship: SCDO:0000663 NCIT:C17241 ! diagnosed using tool Urine Test relationship: SCDO:0000663 SCDO:0001205 ! diagnosed using tool Urinary Albumin Test relationship: SCDO:0000663 SCDO:0001206 ! diagnosed using tool Urinary Creatinine Test relationship: SCDO:0000664 SCDO:0000055 ! treated with Angiotensin-Converting Enzyme Inhibitors relationship: SCDO:0000664 SCDO:0000147 ! treated with Blood Transfusion relationship: SCDO:0000664 SCDO:0000580 ! treated with Hydroxyurea relationship: SCDO:1000220 CMO:0000057 ! diagnosed using measurement Serum Creatinine Level relationship: SCDO:1000220 SCDO:0001209 ! diagnosed using measurement Urine Albumin Concentration relationship: SCDO:1000220 SCDO:0001213 ! diagnosed using measurement Urine Creatinine Concentration relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 HP:0000112 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000795 xsd:string [Term] id: HP:0000118 name: Abnormal Phenotype def: "A phenotype that shows detectable differences from normal." [] synonym: "Phenotypic Abnormality" EXACT [] xref: HP:0000118 is_a: OGMS:0000023 ! Phenotype property_value: SCDO:0000340 http://purl.obolibrary.org/obo/FYPO_0001985 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0009818 xsd:string [Term] id: HP:0000123 name: Nephritis def: "The presence of inflammation affecting the kidney." [] synonym: "Kidney Inflammation" EXACT [] xref: HP:0000123 is_a: HP:0000077 ! Abnormality of the Kidney is_a: HP:0002715 ! Abnormality of the Immune System is_a: SCDO:1000383 ! Renal Complication relationship: SCDO:0000663 NCIT:C17241 ! diagnosed using tool Urine Test relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 HP:0000123 property_value: SCDO:0000661 "May be caused by autoimmune disease, allergic responses, toxic injury, infectious causes." xsd:string property_value: SCDO:0000662 "May be associated with loss of kidney function, pyuria or hematuria, and proteinuria dependent upon cause." xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000793 xsd:string [Term] id: HP:0000132 name: Menorrhagia def: "Prolonged and/or excessive menses at regular intervals in excess of 80 ml or lasting longer than 7 days." [] synonym: "Abnormally Heavy Bleeding During Menstruation" EXACT [] synonym: "Hypermenorrhea" EXACT [] xref: HP:0000132 is_a: HP:0012243 ! Abnormal Reproductive System Morphology relationship: SCDO:0000664 NCIT:C258 ! treated with Antibiotic relationship: SCDO:0000664 SCDO:0000057 ! treated with Anti-Inflammatory Agent relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0000132 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000745 xsd:string [Term] id: HP:0000225 name: Gingival Bleeding def: "Hemorrhage affecting the gingiva." [] synonym: "Bleeding Gums" EXACT [] synonym: "Gingival Hemorrhage" EXACT [] synonym: "Gingivorrhagia" EXACT [] xref: HP:0000225 is_a: HP:0000271 ! Abnormality of the Face property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0000225 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000452 xsd:string [Term] id: HP:0000271 name: Abnormality of the Face def: "An abnormality of the face." [] synonym: "Facial Abnormality" EXACT [] xref: HP:0000271 is_a: HP:0000118 ! Abnormal Phenotype property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0000271 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0003024 xsd:string [Term] id: HP:0000388 name: Otitis Media def: "Inflammation or infection of the middle ear." [] comment: is caused by: Usually bacterial but can be caused by fungus or virus infection.\n\nis characterised by: Pain or discharge from one or both ears xref: HP:0000388 is_a: HP:0002715 ! Abnormality of the Immune System is_a: IDO:0000586 ! Infection relationship: SCDO:0000664 IDO:0000560 ! treated with Antifungal relationship: SCDO:0000664 NCIT:C258 ! treated with Antibiotic relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care property_value: SCDO:0000303 "Source needed for additional information." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0000388 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000846 xsd:string [Term] id: HP:0000478 name: Abnormality of the Eye def: "Any abnormality of the eye, including location, spacing, and intraocular abnormalities." [] xref: HP:0000478 is_a: HP:0000118 ! Abnormal Phenotype property_value: SCDO:0000340 HP:0000478 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000294 xsd:string [Term] id: HP:0000505 name: Visual Impairment def: "Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery." [] synonym: "Impaired Vision" EXACT [] synonym: "Impaired Visual Function" EXACT [] synonym: "Loss of Eyesight" EXACT [] synonym: "Poor Vision" EXACT [] xref: HP:0000505 is_a: HP:0000478 ! Abnormality of the Eye is_a: NCIT:C115319 ! Ophthalmologic Complication property_value: SCDO:0000340 HP:0000505 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000022 xsd:string [Term] id: HP:0000618 name: Blindness def: "Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degress in radius around central fixation." [] synonym: "Total Vision Loss" EXACT [] xref: HP:0000618 is_a: HP:0000505 ! Visual Impairment relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 HP:0000618 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000021 xsd:string [Term] id: HP:0000707 name: Abnormality of the Nervous System def: "Any abnormality of the nervous system." [] synonym: "Brain and/or Spinal Cord Issue" EXACT [] synonym: "Neurologic Abnormalities" EXACT [] synonym: "Neurological Abnormality" EXACT [] xref: HP:0000707 is_a: HP:0000118 ! Abnormal Phenotype property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0000707 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0009698 xsd:string [Term] id: HP:0000708 name: Behavioural Abnormality def: "An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities." [] synonym: "Behavioral Abnormality" EXACT [] synonym: "Behavioural Abnormality" EXACT [] synonym: "Behavioural Changes" EXACT [] synonym: "Behavioural Disorders" EXACT [] synonym: "Behavioural Disturbances" EXACT [] synonym: "Behavioural Problems" EXACT [] synonym: "Behavioural Symptoms" EXACT [] synonym: "Behavioural/Psychiatric Abnormalities" EXACT [] synonym: "Behavioural/Psychiatric Abnormality" EXACT [] synonym: "Psychiatric Disorders" EXACT [] synonym: "Psychiatric Disturbances" EXACT [] xref: HP:0000708 is_a: HP:0012638 ! Abnormal Nervous System Physiology property_value: SCDO:0000303 "Include \"Poor School Performance\" as a sub-class." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0000708 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000105 xsd:string [Term] id: HP:0000726 name: Dementia def: "A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior." [] synonym: "Dementia, Progressive" EXACT [] synonym: "Progressive Dementia" EXACT [] xref: HP:0000726 is_a: HP:0012638 ! Abnormal Nervous System Physiology relationship: SCDO:0000663 NCIT:C18772 ! diagnosed using tool Personal Medical History relationship: SCDO:0000663 SCDO:0000898 ! diagnosed using tool Physical Examination property_value: SCDO:0000303 "Check and show which source was used for the description and whether the description was adapted from the source. -- Provide source for additional info." xsd:string property_value: SCDO:0000340 HP:0000726 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000345 xsd:string [Term] id: HP:0000763 name: Sensory Neuropathy def: "Peripheral neuropathy affecting the sensory nerves." [] synonym: "Peripheral Sensory Neuropathy" EXACT [] xref: HP:0000763 is_a: HP:0009830 ! Peripheral Neuropathy property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0000763 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001038 xsd:string [Term] id: HP:0000789 name: Infertility def: "Inability to produce live offspring." [] synonym: "Sterility" EXACT [] xref: HP:0000789 is_a: HP:0000080 ! Abnormality of Reproductive System Physiology relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada property_value: SCDO:0000340 MP:0001924 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000639 xsd:string [Term] id: HP:0000798 name: Oligospermia def: "Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen." [] synonym: "Low Sperm Count" EXACT [] xref: HP:0000798 is_a: HP:0000080 ! Abnormality of Reproductive System Physiology property_value: SCDO:0000340 HP:0000798 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000827 xsd:string [Term] id: HP:0000805 name: Enuresis def: "Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible." [] xref: HP:0000805 is_a: HP:0000079 ! Abnormality of the Urinary System is_a: SCDO:0000954 ! Quality of Life Related SCD Symptoms and Complications relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0000805 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000434 xsd:string [Term] id: HP:0000815 name: Hypergonadotropic Hypogonadism def: "Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay." [] synonym: "Hypergonadotrophic Hypogonadism" EXACT [] synonym: "Primary Hypogonadism" EXACT [] xref: HP:0000815 is_a: HP:0000080 ! Abnormality of Reproductive System Physiology relationship: SCDO:0000664 SCDO:1000017 ! treated with Surgery relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0000815 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000586 xsd:string [Term] id: HP:0000818 name: Abnormality of the Endocrine System def: "An abnormality of the endocrine system." [] xref: HP:0000818 is_a: HP:0000118 ! Abnormal Phenotype property_value: SCDO:0000340 HP:0000818 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0002780 xsd:string [Term] id: HP:0000819 name: Diabetes Mellitus def: "A group of abnormalities characterized by hyperglycemia and glucose intolerance." [] xref: HP:0000819 is_a: HP:0000818 ! Abnormality of the Endocrine System is_a: HP:0011014 ! Abnormal Glucose Homeostasis is_a: SCDO:0000267 ! Comorbid Disease relationship: SCDO:0000664 NCIT:C15900 ! treated with Lifestyle Therapy relationship: SCDO:0000664 SCDO:0000497 ! treated with Healthy Diet relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0000819 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000367 xsd:string [Term] id: HP:0000820 name: Abnormality of the Thyroid Gland def: "An abnormality of the thyroid gland." [] synonym: "Thyroid Abnormality" EXACT [] xref: HP:0000820 is_a: HP:0000818 ! Abnormality of the Endocrine System property_value: SCDO:0000340 HP:0000820 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000278 xsd:string [Term] id: HP:0000821 name: Hypothyroidism def: "Deficiency of thyroid hormone." [] synonym: "Low T4" EXACT [] synonym: "Underactive Thyroid" EXACT [] xref: HP:0000821 is_a: HP:0000820 ! Abnormality of the Thyroid Gland relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0000821 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000603 xsd:string [Term] id: HP:0000822 name: Hypertension def: "The presence of chronic increased pressure in the systemic arterial system." [] xref: HP:0000822 is_a: HP:0011025 ! Abnormal Cardiovascular System Physiology property_value: SCDO:0000340 HP:0000822 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0008801 xsd:string [Term] id: HP:0000823 name: Delayed Puberty def: "Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty." [] synonym: "Delayed Development of Secondary Sex Characteristics" EXACT [] synonym: "Delayed Onset of Sexual Maturity" EXACT [] synonym: "Delayed Pubertal Development" EXACT [] synonym: "Delayed pubertal growth" EXACT [] synonym: "Delayed Sexual Maturation" EXACT [] synonym: "Delayed Sexual Maturity" EXACT [] synonym: "Pubertal Delay" EXACT [] xref: HP:0000823 is_a: HP:0000818 ! Abnormality of the Endocrine System is_a: HP:0001507 ! Growth Abnormality is_a: SCDO:0000954 ! Quality of Life Related SCD Symptoms and Complications relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care property_value: SCDO:0000340 HP:0000823 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000342 xsd:string [Term] id: HP:0000824 name: Growth Hormone Deficiency def: "Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism." [] xref: HP:0000824 is_a: HP:0000818 ! Abnormality of the Endocrine System property_value: SCDO:0000340 HP:0000824 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0008218 xsd:string [Term] id: HP:0000828 name: Abnormality of the Parathyroid Gland def: "An abnormality of the parathyroid gland." [] xref: HP:0000828 is_a: HP:0000818 ! Abnormality of the Endocrine System property_value: SCDO:0000340 HP:0000828 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000279 xsd:string [Term] id: HP:0000829 name: Hypoparathyroidism def: "A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia." [] synonym: "Decreased Parathyroid Hormone Secretion" EXACT [] synonym: "Low Parathyroid Hormone" EXACT [] xref: HP:0000829 is_a: HP:0000828 ! Abnormality of the Parathyroid Gland property_value: SCDO:0000340 HP:0000829 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0007386 xsd:string [Term] id: HP:0000834 name: Abnormality of the Adrenal Glands def: "Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kidneys." [] synonym: "Adrenal Abnormalities" EXACT [] synonym: "Adrenal Abnormality" EXACT [] xref: HP:0000834 is_a: HP:0000818 ! Abnormality of the Endocrine System property_value: SCDO:0000340 HP:0000834 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0007437 xsd:string [Term] id: HP:0000836 name: Hyperthyroidism def: "An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3)." [] synonym: "Overactive Thyroid" EXACT [] xref: HP:0000836 is_a: HP:0000820 ! Abnormality of the Thyroid Gland property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0000836 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000595 xsd:string [Term] id: HP:0000842 name: Hyperinsulinemia def: "An increased concentration of insulin in the blood." [] synonym: "Elevated Insulin Level" EXACT [] xref: HP:0000842 is_a: HP:0000818 ! Abnormality of the Endocrine System is_a: HP:0011014 ! Abnormal Glucose Homeostasis relationship: SCDO:0000664 NCIT:C16567 ! treated with Exercise property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0000842 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000587 xsd:string [Term] id: HP:0000843 name: Hyperparathyroidism def: "Excessive production of parathyroid hormone (PTH) by the parathyroid glands." [] synonym: "Elevated Blood Parathyroid Hormone Level" EXACT [] xref: HP:0000843 is_a: HP:0000828 ! Abnormality of the Parathyroid Gland relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0000843 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000592 xsd:string [Term] id: HP:0000855 name: Insulin Resistance def: "Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels." [] synonym: "Body Fails to Respond to Insulin" EXACT [] xref: HP:0000855 is_a: HP:0011014 ! Abnormal Glucose Homeostasis relationship: SCDO:0000664 NCIT:C16567 ! treated with Exercise relationship: SCDO:0000664 SCDO:0000497 ! treated with Healthy Diet relationship: SCDO:0000664 SCDO:0000498 ! treated with Healthy Lifestyle property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0000855 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000644 xsd:string [Term] id: HP:0000873 name: Diabetes Insipidus def: "A state of excessive water excretion and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus)." [] xref: HP:0000873 is_a: HP:0000818 ! Abnormality of the Endocrine System property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0000873 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000366 xsd:string [Term] id: HP:0000876 name: Oligomenorrhea def: "Infrequent menses (less than 6 per year or more than 35 days between cycles)." [] synonym: "Light or Infrequent Menstrual Periods" EXACT [] xref: HP:0000876 is_a: HP:0012243 ! Abnormal Reproductive System Morphology property_value: SCDO:0000340 HP:0000876 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0003158 xsd:string [Term] id: HP:0000924 name: Abnormality of the Skeletal System def: "An abnormality of the skeletal system." [] synonym: "Skeletal Abnormalities" EXACT [] synonym: "Skeletal Anomalies" EXACT [] xref: HP:0000924 is_a: HP:0000118 ! Abnormal Phenotype property_value: SCDO:0000340 HP:0000924 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0006301 xsd:string [Term] id: HP:0000938 name: Osteopenia def: "Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5." [] synonym: "Decreased Bone Mineral Density" EXACT [] synonym: "Generalized Osteopenia" EXACT [] xref: HP:0000938 is_a: HP:0000924 ! Abnormality of the Skeletal System relationship: SCDO:0000664 NCIT:C16567 ! treated with Exercise relationship: SCDO:0000664 SCDO:0000382 ! treated with Diet, Food, and Nutrition relationship: SCDO:0000664 SCDO:0000497 ! treated with Healthy Diet relationship: SCDO:0000664 SCDO:0000498 ! treated with Healthy Lifestyle property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0000938 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000843 xsd:string [Term] id: HP:0000939 name: Osteoporosis def: "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD)." [] xref: HP:0000939 is_a: HP:0000924 ! Abnormality of the Skeletal System relationship: SCDO:0000664 NCIT:C16567 ! treated with Exercise relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0000939 xsd:string property_value: SCDO:0000661 "Genetic predisposition, low calcium diet, getting little exercise, smoking, decrease in estrogen at the menopause, steroid medicine use for a long time, Vitamin D insufficiency." xsd:string property_value: SCDO:0000662 "Bone pain, backache, gradual loss of height, stooped posture, fractures." xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000844 xsd:string [Term] id: HP:0000951 name: Abnormality of the Skin def: "An abnormality of the skin." [] synonym: "Abnormal skin morphology" EXACT [] synonym: "Abnormal skin structure" EXACT [] synonym: "Dermatopathy" EXACT [] synonym: "Dermopathy" EXACT [] synonym: "Skin Abnormality" EXACT [] xref: HP:0000951 is_a: HP:0001574 ! Abnormality of the Integument property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0000951 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0008348 xsd:string [Term] id: HP:0000952 name: Jaundice def: "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [] synonym: "Icterus" EXACT [] synonym: "Yellow Skin" EXACT [] synonym: "Yellowing of the Skin" EXACT [] xref: HP:0000952 is_a: HP:0011121 ! Abnormality of Skin Morphology is_a: SCDO:0000954 ! Quality of Life Related SCD Symptoms and Complications relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0000952 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000671 xsd:string [Term] id: HP:0000953 name: Cutaneous Hyperpigmentation def: "A darkening of the skin related to an increase in melanin production and deposition." [] synonym: "Hyperpigmentation of the Skin" EXACT [] synonym: "Increased Skin Pigmentation" EXACT [] synonym: "Melanoderma" EXACT [] synonym: "Melanodermia" EXACT [] synonym: "Skin Hyperpigmentation" EXACT [] xref: HP:0000953 is_a: HP:0011121 ! Abnormality of Skin Morphology property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0000953 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000308 xsd:string [Term] id: HP:0000961 name: Cyanosis def: "Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood." [] synonym: "Blue Discoloration of the Skin" EXACT [] synonym: "Cyanotic" EXACT [] xref: HP:0000961 is_a: HP:0011121 ! Abnormality of Skin Morphology relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors property_value: SCDO:0000340 HP:0000961 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000309 xsd:string [Term] id: HP:0000962 name: Hyperkeratosis def: "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [] xref: HP:0000962 is_a: HP:0011121 ! Abnormality of Skin Morphology relationship: SCDO:0000664 SCDO:1000017 ! treated with Surgery property_value: SCDO:0000340 HP:0000962 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000589 xsd:string [Term] id: HP:0000967 name: Petechiae def: "Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae." [] xref: HP:0000967 is_a: HP:0002597 ! Abnormality of the Vasculature relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors property_value: SCDO:0000340 HP:0000967 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000892 xsd:string [Term] id: HP:0000969 name: Edema def: "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body." [] synonym: "Dropsy" EXACT [] synonym: "Fluid Retention" EXACT [] synonym: "Hydrops" EXACT [] synonym: "Oedema" EXACT [] synonym: "Water Retention" EXACT [] xref: HP:0000969 is_a: SCDO:0002674 ! Abnormality of Metabolism/Homeostasis relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0000969 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000823 xsd:string [Term] id: HP:0000980 name: Pallor def: "Abnormally pale skin." [] xref: HP:0000980 is_a: HP:0011121 ! Abnormality of Skin Morphology relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 HP:0000980 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000863 xsd:string [Term] id: HP:0000999 name: Pyoderma def: "Any manifestation of a skin disease associated with the production of pus." [] synonym: "Pus-Filled Lesion" EXACT [] xref: HP:0000999 is_a: HP:0002715 ! Abnormality of the Immune System is_a: HP:0011122 ! Abnormality of Skin Physiology relationship: SCDO:0000664 NCIT:C258 ! treated with Antibiotic property_value: SCDO:0000340 HP:0000999 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000946 xsd:string [Term] id: HP:0001010 name: Hypopigmentation def: "A reduction of skin color related to a decrease in melanin production and deposition." [] synonym: "Hypopigmentation of the Skin" EXACT [] synonym: "Hypopigmented Skin" EXACT [] synonym: "Skin Hypopigmentation" EXACT [] xref: HP:0001010 is_a: HP:0011121 ! Abnormality of Skin Morphology property_value: SCDO:0000340 HP:0001010 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000601 xsd:string [Term] id: HP:0001022 name: Albinism def: "An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina)." [] synonym: "Achromasia" EXACT [] xref: HP:0001022 is_a: HP:0001010 ! Hypopigmentation property_value: SCDO:0000340 HP:0001022 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000036 xsd:string [Term] id: HP:0001025 name: Urticaria def: "Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure." [] synonym: "Hives" EXACT [] xref: HP:0001025 is_a: HP:0002597 ! Abnormality of the Vasculature property_value: SCDO:0000340 HP:0001025 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001219 xsd:string [Term] id: HP:0001061 name: Acne def: "A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts)." [] synonym: "Break Out" EXACT [] synonym: "Breaking Out" EXACT [] xref: HP:0001061 is_a: HP:0011123 ! Skin Inflammation relationship: SCDO:0000664 NCIT:C258 ! treated with Antibiotic relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: SCDO:0000340 HP:0001061 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000012 xsd:string [Term] id: HP:0001081 name: Cholelithiasis def: "Hard, pebble-like deposits that form within the gallbladder." [] synonym: "Gallstones" EXACT [] xref: HP:0001081 is_a: HP:0025031 ! Abnormality of the Digestive System relationship: SCDO:0000664 ARO:0000064 ! treated with Amoxycillin relationship: SCDO:0000664 CHEBI:6909 ! treated with Metronidazole relationship: SCDO:0000664 NCIT:C519 ! treated with Gentamicin relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000303 "Add here \"bilirubin gallstones\" (see paper \"Liver involvement in sickle cell disease\" by Emel GÜRKAN et al.). in HP these are called \"Pigment Gallstones\"." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0001081 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0007091 xsd:string [Term] id: HP:0001197 name: Abnormality of Prenatal Development or Birth def: "An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities." [] xref: HP:0001197 is_a: HP:0000118 ! Abnormal Phenotype property_value: SCDO:0000340 HP:0001197 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000262 xsd:string [Term] id: HP:0001250 name: Seizure def: "Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures." [] synonym: "Seizures" EXACT [] xref: HP:0001250 is_a: HP:0012638 ! Abnormal Nervous System Physiology relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0001250 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001030 xsd:string [Term] id: HP:0001254 name: Lethargy def: "A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating." [] xref: HP:0001254 is_a: HP:0012638 ! Abnormal Nervous System Physiology property_value: SCDO:0000340 HP:0001254 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0003089 xsd:string [Term] id: HP:0001260 name: Dysarthria def: "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [] synonym: "Difficulty Articulating Speech" EXACT [] synonym: "Dysarthric Speech" EXACT [] xref: HP:0001260 is_a: HP:0012638 ! Abnormal Nervous System Physiology relationship: SCDO:0000663 NCIT:C16809 ! diagnosed using tool Magnetic Resonance Imaging relationship: SCDO:0000663 NCIT:C18772 ! diagnosed using tool Personal Medical History relationship: SCDO:0000663 SCDO:0000133 ! diagnosed using tool Blood Test relationship: SCDO:0000663 SCDO:0000898 ! diagnosed using tool Physical Examination relationship: SCDO:0000664 SCDO:1000017 ! treated with Surgery relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000303 "- Use description to add sub-classes of types of Dysarthria? -- Use text in comments to add relevant terms regarding disease progression? And link to these terms with relevant object property" xsd:string property_value: SCDO:0000340 HP:0001260 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000403 xsd:string [Term] id: HP:0001265 name: Hyporeflexia def: "Reduction of neurologic reflexes such as the knee-jerk reaction." [] synonym: "Decreased Reflex Response" EXACT [] synonym: "Decreased Reflexes" EXACT [] xref: HP:0001265 is_a: HP:0012638 ! Abnormal Nervous System Physiology property_value: SCDO:0000340 HP:0001265 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000602 xsd:string [Term] id: HP:0001269 name: Hemiparesis def: "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength." [] synonym: "Weakness of One Side of Body" EXACT [] xref: HP:0001269 is_a: HP:0012638 ! Abnormal Nervous System Physiology relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0001269 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0008272 xsd:string [Term] id: HP:0001271 name: Polyneuropathy def: "A generalized disorder of peripheral nerves." [] synonym: "Peripheral Nerve Disease" EXACT [] xref: HP:0001271 is_a: HP:0009830 ! Peripheral Neuropathy relationship: SCDO:0000663 NCIT:C17241 ! diagnosed using tool Urine Test relationship: SCDO:0000663 NCIT:C85397 ! diagnosed using tool Spirometry relationship: SCDO:0000663 SCDO:0000133 ! diagnosed using tool Blood Test relationship: SCDO:0000663 SCDO:0000898 ! diagnosed using tool Physical Examination relationship: SCDO:0000664 SCDO:0000822 ! treated with Occupational Therapy relationship: SCDO:0000664 SCDO:0000903 ! treated with Physiotherapy relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors property_value: http://purl.org/dc/elements/1.1/source http://www.msdmanuals.com/home/brain,-spinal-cord,-and-nerve-disorders/peripheral-nerve-disorders/polyneuropathy property_value: http://purl.org/dc/elements/1.1/source http://www.uptodate.com/contents/overview-of-polyneuropathy property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0001271 xsd:string property_value: SCDO:0000661 "Acute polyneuropathy has many causes: Infections involving a toxin produced by bacteria, as occurs in diphtheria,An autoimmune reaction (when the body attacks its own tissues), as occurs in Guillain-Barré syndrome (see Guillain-Barré Syndrome), Drugs, including the anticonvulsant phenytoin, some antibiotics (such as chloramphenicol, nitrofurantoin, and sulfonamides), some chemotherapy drugs (such as vinblastine and vincristine), and some sedatives (such as barbital and hexobarbital), Cancer (such as multiple myeloma), which damages nerves by directly invading or putting pressure on them or by triggering an autoimmune reaction, Certain toxins, such as organophosphate insecticides, triorthocresyl phosphate (TOCP), and thallium\nThe cause of chronic polyneuropathy is often unknown. Known causes include the following: Diabetes Mellitus, Excessive use of alcohol, Nutritional deficiencies (such as thiamin deficiency), an uncommon cause in the United States, except among alcoholics who are malnourished, Vitamin B12 deficiency, which causes subacute combined degeneration of the spinal cord (see Subacute Combined Degeneration) and often pernicious anemia (see Inadequate absorption), An underactive thyroid gland (hypothyroidism), Toxic substances, including heavy metals such as lead and mercury, Kidney failure, Certain cancers, such as lung cancer, Rarely, vitamin B6 (pyridoxine) taken in excessive amounts." xsd:string property_value: SCDO:0000662 "Acute polyneuropathy (as occurs in Guillain-Barré syndrome) begins suddenly in both legs and progresses rapidly upward to the arms. Symptoms include weakness and a pins-and-needles sensation or loss of sensation. The muscles that control breathing may be affected, resulting in respiratory failure.In the most common form of chronic polyneuropathy, only sensation is affected. Usually, the feet are affected first, but sometimes the hands are. A pins-and-needles sensation, numbness, burning pain, and loss of vibration sense and position sense (knowing where the arms and legs are) are prominent symptoms. Because position sense is lost, walking and even standing become unsteady. Consequently, muscles may not be used. Eventually, they may weaken and waste away. Then, muscles may become stiff and permanently shortened (called contractures). Diabetic neuropathy commonly causes painful tingling or burning sensations in the hands and feet-a condition called distal polyneuropathy. Pain is often worse at night and may be aggravated by touch or by a change in temperature. People may lose the senses of temperature and pain, so they often burn themselves and may have open sores caused by prolonged pressure or other injuries. Without pain as a warning of too much stress, joints are susceptible to injuries. This type of injury is called neurogenic arthropathy (Charcot joints) Polyneuropathy often affects the nerves of the autonomic nervous system, which controls involuntary functions in the body (such as blood pressure, heart rate, digestion, salivation, and urination). Typical symptoms are constipation, sexual dysfunction, and fluctuating blood pressure-most notably a sudden fall in blood pressure when a person stands up (orthostatic hypotension). The skin may become pale and dry, and sweating may be reduced. Much less often, control of bowel movements or urination is lost, leading to fecal or urinary incontinence." xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000914 xsd:string [Term] id: HP:0001279 name: Syncope def: "Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow." [] synonym: "Fainting Spell" EXACT [] xref: HP:0001279 is_a: HP:0011025 ! Abnormal Cardiovascular System Physiology relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0001279 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0008553 xsd:string [Term] id: HP:0001287 name: Meningitis def: "Inflammation of the meninges." [] xref: HP:0001287 is_a: HP:0002715 ! Abnormality of the Immune System is_a: IDO:0000586 ! Infection relationship: SCDO:0000663 NCIT:C16809 ! diagnosed using tool Magnetic Resonance Imaging relationship: SCDO:0000664 NCIT:C258 ! treated with Antibiotic relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 HP:0001287 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000744 xsd:string [Term] id: HP:0001289 name: Confusion def: "Lack of clarity and coherence of thought, perception, understanding, or action." [] xref: HP:0001289 is_a: HP:0012638 ! Abnormal Nervous System Physiology property_value: SCDO:0000303 "-- Perhaps move below \"Behavioral Abnormality\"?" xsd:string property_value: SCDO:0000340 HP:0001289 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000273 xsd:string [Term] id: HP:0001298 name: Encephalopathy def: "A term that means brain disease, damage, or malfunction. In general, it is manifested by an altered mental state." [] xref: HP:0001298 is_a: HP:0012638 ! Abnormal Nervous System Physiology relationship: SCDO:0000663 OBI:0000185 ! diagnosed using tool Imaging Assay relationship: SCDO:0000663 SCDO:0000133 ! diagnosed using tool Blood Test relationship: SCDO:0000663 SCDO:0000420 ! diagnosed using tool Electroencephalography relationship: SCDO:0000664 SCDO:0000382 ! treated with Diet, Food, and Nutrition relationship: SCDO:0000664 SCDO:0000983 ! treated with Renal Dialysis relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors property_value: SCDO:0000303 "-- Provide source for additional info. -- -- Specify which Blood Tests and Which Imaging Tests are used to diagnose." xsd:string property_value: SCDO:0000340 HP:0001298 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000429 xsd:string [Term] id: HP:0001342 name: Cerebral Hemorrhage def: "Hemorrhage into the parenchyma of the brain." [] synonym: "Bleeding in Brain" EXACT [] synonym: "Hemorrhagic Stroke" EXACT [] synonym: "Intracerebral Bleeding" EXACT [] synonym: "Intracerebral Hemorrhage" EXACT [] xref: HP:0001342 is_a: HP:0002170 ! Intracranial Hemorrhage relationship: SCDO:0000663 NCIT:C16809 ! diagnosed using tool Magnetic Resonance Imaging relationship: SCDO:0000663 OBI:0000185 ! diagnosed using tool Imaging Assay relationship: SCDO:0000663 SCDO:0000133 ! diagnosed using tool Blood Test relationship: SCDO:0000663 SCDO:0001327 ! diagnosed using tool Fluorescein Angiography relationship: SCDO:0000664 SCDO:0000050 ! treated with Analgesic relationship: SCDO:0000664 SCDO:0000822 ! treated with Occupational Therapy relationship: SCDO:0000664 SCDO:0000903 ! treated with Physiotherapy relationship: SCDO:0000664 SCDO:1000017 ! treated with Surgery relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0001342 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000209 xsd:string [Term] id: HP:0001343 name: Kernicterus def: "Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction." [] xref: HP:0001343 is_a: HP:0012639 ! Abnormal Nervous System Morphology property_value: SCDO:0000340 HP:0001343 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000673 xsd:string [Term] id: HP:0001369 name: Arthritis def: "Inflammation of a joint." [] synonym: "Joint Inflammation" EXACT [] xref: HP:0001369 is_a: HP:0000924 ! Abnormality of the Skeletal System relationship: SCDO:0000664 SCDO:0000050 ! treated with Analgesic relationship: SCDO:0000664 SCDO:0000903 ! treated with Physiotherapy relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0001369 xsd:string property_value: SCDO:0000468 "Any age" xsd:string property_value: SCDO:0000661 "Infection (bacteria), ischemia, joint injury (trauma, surgery), degeneration." xsd:string property_value: SCDO:0000662 "Joint pain, joint swelling, stiffness, lack of function." xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000075 xsd:string [Term] id: HP:0001370 name: Rheumatoid Arthritis def: "An autoimmune response that primarily affects connective tissue; it also results in chronic inflammation of the joints, especially of the hands and feet and may also cause inflammation of the tissue around the joints, as well as other organs in the body." [] synonym: "Osteoarthrosis Deformans" EXACT [] synonym: "RA" EXACT [] xref: HP:0001370 is_a: HP:0001369 ! Arthritis is_a: HP:0002715 ! Abnormality of the Immune System relationship: SCDO:0000664 SCDO:0000822 ! treated with Occupational Therapy relationship: SCDO:0000664 SCDO:0000903 ! treated with Physiotherapy relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/MP_0003561 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001011 xsd:string [Term] id: HP:0001371 name: Flexion Contracture def: "A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints." [] synonym: "Flexion Contractures" EXACT [] synonym: "Flexion Contractures of Joints" EXACT [] synonym: "Joint Contracture" EXACT [] synonym: "Joint Contractures" EXACT [] xref: HP:0001371 is_a: HP:0000924 ! Abnormality of the Skeletal System property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0001371 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001324 xsd:string [Term] id: HP:0001382 name: Joint Hypermobility def: "The ability of a joint to move beyond its normal range of motion." [] synonym: "Double-Jointed" EXACT [] synonym: "Hyperextensible Joints" EXACT [] synonym: "Increased Mobility of Joints" EXACT [] synonym: "Joint Hyperextensibility" EXACT [] xref: HP:0001382 is_a: HP:0000924 ! Abnormality of the Skeletal System relationship: SCDO:0000664 NCIT:C16567 ! treated with Exercise relationship: SCDO:0000664 SCDO:0000050 ! treated with Analgesic relationship: SCDO:0000664 SCDO:0000057 ! treated with Anti-Inflammatory Agent property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0001382 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000672 xsd:string [Term] id: HP:0001392 name: Abnormality of the Liver def: "An abnormality of the liver." [] synonym: "Complication of the Liver" EXACT [] synonym: "Liver Abnormality" EXACT [] synonym: "Liver Complication" EXACT [] xref: HP:0001392 is_a: HP:0025031 ! Abnormality of the Digestive System property_value: SCDO:0000340 HP:0001392 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000272 xsd:string [Term] id: HP:0001394 name: Cirrhosis def: "A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function." [] synonym: "Hepatic Cirrhosis" EXACT [] synonym: "Scar Tissue Replaces Healthy Tissue in the Liver" EXACT [] xref: HP:0001394 is_a: HP:0001392 ! Abnormality of the Liver property_value: SCDO:0000340 HP:0001394 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001488 xsd:string [Term] id: HP:0001395 name: Hepatic Fibrosis def: "The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process." [] xref: HP:0001395 is_a: HP:0001392 ! Abnormality of the Liver property_value: SCDO:0000340 HP:0001395 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001493 xsd:string [Term] id: HP:0001406 name: Intrahepatic Cholestasis def: "Impairment of bile flow due to obstruction in the small bile ducts within the liver." [] xref: HP:0001406 is_a: HP:0001392 ! Abnormality of the Liver relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000303 "Is managed by: analgesia, hydration, antibiotics, and in severe cases exchange transfusion may be needed." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0001406 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0009774 xsd:string [Term] id: HP:0001433 name: Hepatosplenomegaly def: "Simultaneous enlargement of the liver and spleen." [] xref: HP:0001433 is_a: HP:0001392 ! Abnormality of the Liver is_a: HP:0001743 ! Abnormality of the Spleen is_a: NCIT:C115224 ! Hepatic Complication property_value: SCDO:0000340 HP:0001433 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0007326 xsd:string [Term] id: HP:0001507 name: Growth Abnormality def: "Abnormality of growth." [] synonym: "Abnormal Growth" EXACT [] synonym: "Growth Issue" EXACT [] xref: HP:0001507 is_a: HP:0000118 ! Abnormal Phenotype property_value: SCDO:0000340 HP:0001507 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000271 xsd:string [Term] id: HP:0001508 name: Failure to Thrive def: "Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm." [] synonym: "Faltering Weight" EXACT [] synonym: "FTT" EXACT [] synonym: "Poor Weight Gain" EXACT [] synonym: "Postnatal Failure to Thrive" EXACT [] synonym: "Undergrowth" EXACT [] synonym: "Weight Faltering" EXACT [] xref: HP:0001508 is_a: HP:0001507 ! Growth Abnormality property_value: SCDO:0000340 HP:0001508 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0002729 xsd:string [Term] id: HP:0001511 name: Intrauterine Growth Restriction def: "An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age." [] synonym: "Intrauterine Growth Retardation" EXACT [] synonym: "IUGR" EXACT [] synonym: "Prenatal Growth Retardation" EXACT [] synonym: "Prenatal-Onset Growth Retardation" EXACT [] synonym: "Small for Gestational Age Infant" EXACT [] xref: HP:0001511 is_a: HP:0001197 ! Abnormality of Prenatal Development or Birth is_a: HP:0001507 ! Growth Abnormality relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0001511 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000658 xsd:string [Term] id: HP:0001513 name: Obesity def: "Body weight that is grossly above the acceptable or desirable weight, usually due to accumulation of excess fats in the body. The standards may vary with age, sex, genetic or cultural background. In the body mass index (BMI), a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese." [] synonym: "Having too much body fat" EXACT [] xref: HP:0001513 is_a: HP:0001507 ! Growth Abnormality relationship: SCDO:0000664 SCDO:0000497 ! treated with Healthy Diet relationship: SCDO:0000664 SCDO:0001284 ! treated with Behaviour Therapy relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0001513 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000816 xsd:string [Term] id: HP:0001574 name: Abnormality of the Integument def: "An abnormality of the integument, which consists of the skin and the superficial fascia." [] xref: HP:0001574 is_a: HP:0000118 ! Abnormal Phenotype property_value: SCDO:0000340 HP:0001574 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000274 xsd:string [Term] id: HP:0001622 name: Preterm Delivery def: "The birth of a baby of less than 37 weeks of gestational age." [] synonym: "Premature Birth" EXACT [] synonym: "Premature Delivery" EXACT [] synonym: "Premature Delivery of Affected Infants" EXACT [] synonym: "Preterm Birth" EXACT [] xref: HP:0001622 is_a: HP:0001197 ! Abnormality of Prenatal Development or Birth relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0001622 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000920 xsd:string [Term] id: HP:0001626 name: Abnormality of Cardiovascular System def: "Any abnormality of the cardiovascular system." [] synonym: "Abnormality of the Cardiovascular System" EXACT [] synonym: "Cardiovascular Abnormality" EXACT [] xref: HP:0001626 is_a: HP:0000118 ! Abnormal Phenotype property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0001626 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0002245 xsd:string [Term] id: HP:0001635 name: Cardiac Failure def: "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [] synonym: "Cardiac Insufficiency," EXACT [] synonym: "CHF" EXACT [] synonym: "Congestive Heart Failure" EXACT [] synonym: "Heart Failure" EXACT [] xref: HP:0001635 is_a: HP:0011025 ! Abnormal Cardiovascular System Physiology property_value: SCDO:0000340 https://hpo.jax.org/app/browse/term/HP:0001635 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0004877 xsd:string [Term] id: HP:0001640 name: Cardiomegaly def: "Increased size of the heart." [] synonym: "Enlarged Heart" EXACT [] synonym: "Increased Heart Size" EXACT [] xref: HP:0001640 is_a: HP:0030680 ! Abnormal Cardiovascular System Morphology relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0001640 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0008273 xsd:string [Term] id: HP:0001658 name: Myocardial Infarction def: "Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin." [] xref: HP:0001658 is_a: HP:0011025 ! Abnormal Cardiovascular System Physiology relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0001658 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0007991 xsd:string [Term] id: HP:0001701 name: Pericarditis def: "Inflammation of the sac-like covering around the heart (pericardium)." [] xref: HP:0001701 is_a: HP:0011025 ! Abnormal Cardiovascular System Physiology property_value: SCDO:0000340 HP:0001701 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0003765 xsd:string [Term] id: HP:0001712 name: Left Ventricular Hypertrophy def: "Enlargement or increased size of the heart left ventricle." [] synonym: "Heart Left Ventricle Hypertrophy" EXACT [] synonym: "Left Ventricular Wall Hypertrophy" EXACT [] xref: HP:0001712 is_a: HP:0001714 ! Ventricular Hypertrophy property_value: SCDO:0000340 HP:0001712 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0002803 xsd:string [Term] id: HP:0001714 name: Ventricular Hypertrophy def: "Enlargement of the cardiovascular ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy." [] xref: HP:0001714 is_a: HP:0030680 ! Abnormal Cardiovascular System Morphology relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0001714 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001231 xsd:string [Term] id: HP:0001743 name: Abnormality of the Spleen def: "An abnormality of the spleen." [] xref: HP:0001743 is_a: HP:0002715 ! Abnormality of the Immune System is_a: HP:0025031 ! Abnormality of the Digestive System property_value: SCDO:0000340 HP:0001743 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000370 xsd:string [Term] id: HP:0001744 name: Splenomegaly def: "Abnormal increased size of the spleen." [] comment: Results from splenic sequestration synonym: "Increased Spleen Size" EXACT [] xref: HP:0001744 is_a: HP:0001743 ! Abnormality of the Spleen relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0001744 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0005287 xsd:string [Term] id: HP:0001787 name: Abnormal Delivery def: "An abnormality of the birth process." [] xref: HP:0001787 is_a: HP:0001197 ! Abnormality of Prenatal Development or Birth property_value: SCDO:0000340 HP:0001787 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000372 xsd:string [Term] id: HP:0001789 name: Hydrops Fetalis def: "The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema." [] xref: HP:0001789 is_a: HP:0000969 ! Edema is_a: HP:0001197 ! Abnormality of Prenatal Development or Birth relationship: SCDO:0000664 SCDO:0000147 ! treated with Blood Transfusion relationship: SCDO:0000664 SCDO:0001303 ! treated with Exchange Transfusion, Whole Blood relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0001789 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000578 xsd:string [Term] id: HP:0001871 name: Abnormality of Blood and Blood-Forming Tissues def: "An abnormality of the hematopoietic system." [] synonym: "Abnormality of the Hematopoietic System" EXACT [] synonym: "Hematological Abnormality" EXACT [] synonym: "Hematopoietic System Abnormality" EXACT [] xref: HP:0001871 is_a: HP:0000118 ! Abnormal Phenotype is_a: SCDO:1000820 ! Hematopoietic System Phenotype property_value: SCDO:0000340 HP:0001871 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000264 xsd:string [Term] id: HP:0001872 name: Abnormal Thrombocyte Morphology def: "An abnormality of platelets. Platelets, also known as thrombocytes, are non-nucleated disk-shaped cells mainly involved in blood coagulation." [] synonym: "Platelet Abnormalities" EXACT [] xref: HP:0001872 is_a: HP:0001871 ! Abnormality of Blood and Blood-Forming Tissues property_value: SCDO:0000340 HP:0001872 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000616 xsd:string [Term] id: HP:0001873 name: Thrombocytopenia def: "A reduction in the number of circulating thrombocytes." [] xref: HP:0001873 is_a: HP:0011873 ! Abnormal Platelet Count property_value: SCDO:0000340 HP:0001873 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0002700 xsd:string [Term] id: HP:0001874 name: Abnormality of Neutrophils def: "A neutrophil abnormality." [] comment: Neutrophils are the most abundant leukocytes in blood and are considered to be the first line of defense during inflammation and infections. They are myeloid granulocytes and their names is derived from the fact that their cytoplasm contains granules that stain with acidic dye as well as granules that stain with basic dye. Their nuclei consist of three to five lobes connected by slender threads of chromatin. Mature neutrophils live for approximately one day. xref: HP:0001874 is_a: HP:0001871 ! Abnormality of Blood and Blood-Forming Tissues property_value: SCDO:0000340 https://hpo.jax.org/app/browse/term/HP:0001874 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000440 xsd:string [Term] id: HP:0001875 name: Neutropenia def: "An abnormally low number of neutrophils in the peripheral blood." [] synonym: "Decreased Neutrophil Count" EXACT [] synonym: "Low Blood Neutrophil Count" EXACT [] synonym: "Low Neutrophil Count" EXACT [] synonym: "Peripheral Neutropenia" EXACT [] xref: HP:0001875 is_a: HP:0011991 ! Abnormal Neutrophil Count property_value: SCDO:0000340 HP:0001875 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0009334 xsd:string [Term] id: HP:0001877 name: Abnormal Erythrocyte Morphology def: "Any structural abnormality of erythrocytes (red-blood cells)." [] xref: HP:0001877 is_a: HP:0001871 ! Abnormality of Blood and Blood-Forming Tissues property_value: SCDO:0000340 HP:0001877 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000285 xsd:string [Term] id: HP:0001878 name: Hemolytic Anemia def: "A type of anemia caused by premature destruction of red blood cells (hemolysis)." [] xref: HP:0001878 is_a: HP:0001903 ! Anemia relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0001878 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0003844 xsd:string [Term] id: HP:0001882 name: Leukopenia def: "An abnormal decreased number of leukocytes in the blood." [] synonym: "Decreased Blood Leukocyte Number" EXACT [] synonym: "Low White Blood Cell Count" EXACT [] xref: HP:0001882 is_a: HP:0011893 ! Abnormal Leukocyte Count property_value: SCDO:0000340 HP:0001882 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000614 xsd:string [Term] id: HP:0001889 name: Megaloblastic Anemia def: "Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts)." [] xref: HP:0001889 is_a: HP:0001903 ! Anemia relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0001889 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0005864 xsd:string [Term] id: HP:0001894 name: Thrombocytosis def: "Thrombocythemia and thrombocytosis are conditions with a higher than normal number of platelets. The term \"thrombocythemia\" is preferred when the cause of a high platelet count isn't known. The condition sometimes is called primary or essential thrombocythemia. Increased numbers of platelets in the peripheral blood." [] synonym: "Increased Number of Platelets in Blood" EXACT [] synonym: "Increased Platelet Count" EXACT [] xref: HP:0001894 is_a: HP:0011873 ! Abnormal Platelet Count property_value: SCDO:0000340 HP:0001894 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000618 xsd:string [Term] id: HP:0001896 name: Reticulocytopenia def: "A reduced number of reticulocytes in the peripheral blood." [] synonym: "Low Reticulocyte Count" EXACT [] synonym: "Reduced Number of Reticulocytes" EXACT [] synonym: "Reduced Reticulocyte Count" EXACT [] xref: HP:0001896 is_a: HP:0004312 ! Abnormality of Reticulocytes relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania property_value: SCDO:0000340 HP:0001896 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001423 xsd:string [Term] id: HP:0001903 name: Anemia def: "A reduction in erythrocytes volume or hemoglobin concentration." [] xref: HP:0001903 is_a: HP:0001877 ! Abnormal Erythrocyte Morphology relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0001903 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0005660 xsd:string [Term] id: HP:0001909 name: Leukaemia def: "A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes." [] synonym: "Blood Cancer" EXACT [] xref: HP:0001909 is_a: OBI:1110053 ! Cancer relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0001909 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000687 xsd:string [Term] id: HP:0001919 name: Acute Kidney Injury def: "Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia)." [] comment: Acute renal failure is usually classified into prerenal (response to severe volume depletion), intrinsic (response to acute cytotoxic, ischemic, or inflammatory insults) and postrenal (response to obstruction of the passage of urine) etiologies. synonym: "Acute Kidney Failure" EXACT [] synonym: "Acute Renal Failure" EXACT [] xref: HP:0001919 is_a: HP:0000084 ! Kidney Failure relationship: SCDO:0000664 SCDO:0000983 ! treated with Renal Dialysis relationship: SCDO:0000664 SCDO:0001129 ! treated with Supportive Therapeutics relationship: SCDO:1000220 CMO:0000057 ! diagnosed using measurement Serum Creatinine Level relationship: SCDO:1000220 CMO:0000256 ! diagnosed using measurement Urine Measurement relationship: SCDO:1000220 SCDO:0000457 ! diagnosed using measurement Glomerular Filtration Rate relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000303 "Further work" xsd:string property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000303 "There is conflicting positioning of this term in different ontologies. Need an expert to decide descriptions and positioning of this and related terms." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0001919 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000017 xsd:string [Term] id: HP:0001920 name: Renal Artery Stenosis def: "The presence of stenosis of the renal artery." [] synonym: "Narrowing of Kidney Artery" EXACT [] synonym: "RAS" EXACT [] xref: HP:0001920 is_a: HP:0000077 ! Abnormality of the Kidney relationship: SCDO:0000664 SCDO:1000017 ! treated with Surgery property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 HP:0001920 property_value: SCDO:0000468 "If due to FMD, presents at younger age, typically between 25-50 (and more common in women); if related to atherosclerotic disase, more likely to present after age 50." xsd:string property_value: SCDO:0000661 "May be caused by atherosclerotic disease, fibromuscular dysplasia." xsd:string property_value: SCDO:0000662 "Reduced blood flow through the renal arteries, large and branching vessels." xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000982 xsd:string [Term] id: HP:0001923 name: Reticulocytosis def: "An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation." [] synonym: "High Reticulocyte Count" EXACT [] synonym: "Increased Immature Red Blood Cells" EXACT [] synonym: "Increased Number of Immature Red Blood Cells" EXACT [] synonym: "Increased Reticulocyte Count" EXACT [] synonym: "Increased Reticulocytes" EXACT [] xref: HP:0001923 is_a: HP:0004312 ! Abnormality of Reticulocytes relationship: SCDO:1000202 SCDO:0009350 ! caused by Splenic Sequestration relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease property_value: SCDO:0000340 HP:0001923 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001272 xsd:string [Term] id: HP:0001931 name: Hypochromic Anemia def: "A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes." [] xref: HP:0001931 is_a: HP:0001903 ! Anemia property_value: SCDO:0000340 HP:0001931 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0007371 xsd:string [Term] id: HP:0001935 name: Microcytic Anemia def: "A kind of anemia in which the volume of the red blood cells is reduced." [] comment: In normocytic anemia, the mean corpuscular volume (MCV) is below normal limits (>80 fl in adults). xref: HP:0001935 is_a: HP:0001903 ! Anemia property_value: http://purl.org/dc/elements/1.1/source HP:0001935 property_value: SCDO:0000340 HP:0001935 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0008538 xsd:string [Term] id: HP:0001943 name: Hypoglycemia def: "A decreased concentration of glucose in the blood." [] synonym: "Low Blood Sugar" EXACT [] xref: HP:0001943 is_a: HP:0011014 ! Abnormal Glucose Homeostasis property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0001943 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000599 xsd:string [Term] id: HP:0001953 name: Diabetic Ketoacidosis def: "A type of diabetic metabolic abnormality with an accumulation of ketone bodies." [] synonym: "Diabetic Ketosis" EXACT [] xref: HP:0001953 is_a: HP:0000819 ! Diabetes Mellitus relationship: SCDO:0000664 SCDO:0000576 ! treated with Hydration Therapy property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0001953 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000369 xsd:string [Term] id: HP:0001970 name: Interstitial Nephritis def: "A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules." [] synonym: "Tubulointerstitial Nephritis" EXACT [] xref: HP:0001970 is_a: HP:0000123 ! Nephritis relationship: SCDO:0000663 NCIT:C17241 ! diagnosed using tool Urine Test relationship: SCDO:0000663 NCIT:C18772 ! diagnosed using tool Personal Medical History relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors property_value: SCDO:0000340 HP:0001970 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000652 xsd:string [Term] id: HP:0001974 name: Leukocytosis def: "An abnormal increase in the number of leukocytes in the blood." [] synonym: "Elevated White Blood Count" EXACT [] synonym: "High White Blood Count" EXACT [] synonym: "Increased Blood Leukocyte Number" EXACT [] xref: HP:0001974 is_a: HP:0011893 ! Abnormal Leukocyte Count property_value: SCDO:0000340 HP:0001974 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0005790 xsd:string [Term] id: HP:0001977 name: Abnormal Thrombosis def: "Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis)." [] xref: HP:0001977 is_a: HP:0001871 ! Abnormality of Blood and Blood-Forming Tissues property_value: SCDO:0000340 HP:0001977 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000287 xsd:string [Term] id: HP:0001999 name: Facial Dysmorphisms def: "An abnormal morphology (form) of the face or its components." [] synonym: "Abnormal facial shape" EXACT [] synonym: "Abnormal Morphology of the Face" EXACT [] synonym: "Dysmorphic Facial Features" EXACT [] synonym: "Unusual Facial Appearance" EXACT [] xref: HP:0001999 is_a: HP:0000271 ! Abnormality of the Face property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0001999 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001314 xsd:string [Term] id: HP:0002007 name: Frontal Bossing def: "Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline." [] synonym: "Frontal Protruberance" EXACT [] synonym: "Skull Bossing" EXACT [] xref: HP:0002007 is_a: HP:0000924 ! Abnormality of the Skeletal System relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0002007 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001337 xsd:string [Term] id: HP:0002014 name: Diarrhea def: "Abnormally increased frequency of loose or watery bowel movements." [] synonym: "Diarrhoea" EXACT [] synonym: "Watery stool" EXACT [] xref: HP:0002014 is_a: HP:0025031 ! Abnormality of the Digestive System property_value: SCDO:0000340 HP:0002014 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0008043 xsd:string [Term] id: HP:0002019 name: Constipation def: "Infrequent or difficult evacuation of feces." [] synonym: "Constipation" EXACT [] synonym: "Costiveness" EXACT [] synonym: "Dyschezia" EXACT [] xref: HP:0002019 is_a: HP:0025031 ! Abnormality of the Digestive System relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0002019 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0003263 xsd:string [Term] id: HP:0002059 name: Cerebral Atrophy def: "Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum." [] comment: Atrophy may be progressive over time. synonym: "Cortical Atrophy" EXACT [] synonym: "Degeneration of Cerebrum" EXACT [] synonym: "Supratentorial Atrophy" EXACT [] xref: HP:0002059 is_a: HP:0002060 ! Abnormality of the Cerebrum property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0002059 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000203 xsd:string [Term] id: HP:0002060 name: Abnormality of the Cerebrum def: "An abnormality of the telencephalon, which is also known as the cerebrum." [] synonym: "Abnormal Cerebral Morphology" EXACT [] synonym: "Abnormality of the Telencephalon" EXACT [] xref: HP:0002060 is_a: HP:0012639 ! Abnormal Nervous System Morphology property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0002060 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0008895 xsd:string [Term] id: HP:0002067 name: Bradykinesia def: "Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement)." [] synonym: "Slow Movements" EXACT [] synonym: "Slowness of Movements" EXACT [] xref: HP:0002067 is_a: HP:0012638 ! Abnormal Nervous System Physiology property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0002067 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000158 xsd:string [Term] id: HP:0002071 name: Extrapyramidal Symptoms def: "A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless)." [] synonym: "Abnormality of Extrapyramidal Motor Function" EXACT [] synonym: "Extrapyramidal Dysfunction" EXACT [] synonym: "Extrapyramidal Signs" EXACT [] synonym: "Extrapyramidal Syndrome" EXACT [] synonym: "Extrapyramidal Tract Signs" EXACT [] xref: HP:0002071 is_a: HP:0012638 ! Abnormal Nervous System Physiology relationship: SCDO:0000663 NCIT:C15709 ! diagnosed using tool Genetic Testing relationship: SCDO:0000663 NCIT:C16809 ! diagnosed using tool Magnetic Resonance Imaging relationship: SCDO:0000663 NCIT:C74954 ! diagnosed using tool Liver Function Test relationship: SCDO:0000663 SCDO:0000133 ! diagnosed using tool Blood Test relationship: SCDO:0000663 SCDO:0001322 ! diagnosed using tool Serum Ferritin Test property_value: SCDO:0000340 HP:0002071 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001311 xsd:string [Term] id: HP:0002076 name: Migraine def: "Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms." [] comment: Roughly one-third of affected individuals can predict the onset of a migraine because it is preceded by an "aura," visual disturbances that appear as flashing lights, zig-zag lines or a temporary loss of vision. People with migraine tend to have recurring attacks triggered by a number of different factors, including stress, anxiety, hormonal changes, bright or flashing lights, lack of food or sleep, and dietary substances. Migraine in some women may relate to changes in hormones and hormonal levels during their menstrual cycle. For many years, scientists believed that migraines were linked to the dilation and constriction of blood vessels in the head. Investigators now believe that migraine has a genetic cause. synonym: "Intermittent Migraine Headaches" EXACT [] synonym: "Migraine Headache" EXACT [] xref: HP:0002076 is_a: HP:0012638 ! Abnormal Nervous System Physiology relationship: SCDO:0000663 OGMS:0000088 ! diagnosed using tool Patient Symptom Report relationship: SCDO:0000664 NCIT:C16567 ! treated with Exercise relationship: SCDO:0000664 SCDO:0000067 ! treated with Antihypertensive Agents relationship: SCDO:0000664 SCDO:0000382 ! treated with Diet, Food, and Nutrition relationship: SCDO:0000664 SCDO:0000497 ! treated with Healthy Diet relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK property_value: SCDO:0000340 HP:0002076 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000759 xsd:string [Term] id: HP:0002086 name: Abnormality of the Respiratory System def: "An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles." [] synonym: "Respiratory Abnormality" EXACT [] xref: HP:0002086 is_a: HP:0000118 ! Abnormal Phenotype property_value: SCDO:0000303 "Curation completed by the SCDO curator team: Amy and Khuthala." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0002086 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0004899 xsd:string [Term] id: HP:0002090 name: Pneumonia def: "Inflammation of any part of the lung parenchyma." [] xref: HP:0002090 is_a: HP:0002086 ! Abnormality of the Respiratory System is_a: HP:0002715 ! Abnormality of the Immune System property_value: SCDO:0000340 HP:0002090 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0009838 xsd:string [Term] id: HP:0002098 name: Respiratory Distress def: "Difficulty in breathing. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea." [] synonym: "Breathing Difficulties" EXACT [] synonym: "Difficulty Breathing" EXACT [] synonym: "Respiratory Difficulties" EXACT [] xref: HP:0002098 is_a: HP:0002086 ! Abnormality of the Respiratory System relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000303 "Is a symptom of acute chest syndrome" xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0002098 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0009656 xsd:string [Term] id: HP:0002138 name: Subarachnoid Hemorrhage def: "Hemorrhage occurring between the arachnoid mater and the pia mater." [] comment: Subarachnoid hemorrhage may occur spontaneously, usually from a ruptured cerebral aneurysm, or may result from head injury. synonym: "Subarachnoid Haemorrhage" EXACT [] xref: HP:0002138 is_a: HP:0002170 ! Intracranial Hemorrhage relationship: SCDO:0000663 NCIT:C16809 ! diagnosed using tool Magnetic Resonance Imaging relationship: SCDO:0000664 SCDO:0000497 ! treated with Healthy Diet relationship: SCDO:0000664 SCDO:0001159 ! treated with Tobacco Use Cessation relationship: SCDO:0000664 SCDO:1000017 ! treated with Surgery relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: SCDO:0000340 HP:0002138 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001118 xsd:string [Term] id: HP:0002149 name: Hyperuricemia def: "An abnormally high level of uric acid in the blood." [] synonym: "High Blood Uric Acid Level" EXACT [] synonym: "Hyperuricaemia" EXACT [] xref: HP:0002149 is_a: HP:0002157 ! Azotaemia relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: SCDO:0000340 HP:0002149 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000596 xsd:string [Term] id: HP:0002157 name: Azotaemia def: "An increased concentration of nitrogen compounds in the blood." [] synonym: "Azotemia" EXACT [] xref: HP:0002157 is_a: HP:0004364 ! Abnormal Circulating Nitrogen Compound Concentration relationship: SCDO:0000664 SCDO:0000983 ! treated with Renal Dialysis relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors property_value: SCDO:0000303 "Perhaps move to below \"Endocrine and Metabolic\"? -- -- Check and show which source was used for the description and whether the description was adapted from the source. -- Provide source for additional info." xsd:string property_value: SCDO:0000340 HP:0002157 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000093 xsd:string [Term] id: HP:0002164 name: Nail Dysplasia def: "The presence of developmental dysplasia of the nail." [] synonym: "Dysplastic Nails" EXACT [] synonym: "Onychodysplasia" EXACT [] xref: HP:0002164 is_a: HP:0001574 ! Abnormality of the Integument relationship: SCDO:0000664 SCDO:1000017 ! treated with Surgery property_value: SCDO:0000340 HP:0002164 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000830 xsd:string [Term] id: HP:0002170 name: Intracranial Hemorrhage def: "Hemorrhage occurring within the skull." [] xref: HP:0002170 is_a: SCDO:1000037 ! Abnormality of the Cerebral Vasculature relationship: SCDO:0000663 NCIT:C16809 ! diagnosed using tool Magnetic Resonance Imaging relationship: SCDO:0000663 NCIT:C18772 ! diagnosed using tool Personal Medical History relationship: SCDO:0000663 SCDO:0001327 ! diagnosed using tool Fluorescein Angiography relationship: SCDO:0000664 SCDO:0000067 ! treated with Antihypertensive Agents relationship: SCDO:0000664 SCDO:1000017 ! treated with Surgery relationship: SCDO:1000220 SCDO:0001249 ! diagnosed using measurement X-Ray Image relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada property_value: SCDO:0000340 HP:0002170 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000654 xsd:string [Term] id: HP:0002181 name: Cerebral Edema def: "Abnormal accumulation of fluid in the brain." [] synonym: "Brain Edema" EXACT [] synonym: "Brain Oedema" EXACT [] synonym: "Cerebral Oedema" EXACT [] xref: HP:0002181 is_a: HP:0000969 ! Edema relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0002181 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000207 xsd:string [Term] id: HP:0002204 name: Pulmonary Embolism def: "An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery." [] synonym: "Blood Clot in Artery of Lung" EXACT [] xref: HP:0002204 is_a: HP:0030680 ! Abnormal Cardiovascular System Morphology property_value: SCDO:0000340 HP:0002204 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0007912 xsd:string [Term] id: HP:0002240 name: Hepatomegaly def: "Abnormally increased size of the liver." [] xref: HP:0002240 is_a: HP:0001392 ! Abnormality of the Liver is_a: NCIT:C115224 ! Hepatic Complication property_value: SCDO:0000340 HP:0002240 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0005566 xsd:string [Term] id: HP:0002341 name: Cervical Cord Compression def: "Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness." [] synonym: "Cervical Cord Compression Myelopathy" EXACT [] synonym: "Cervical Spondylotic Myelopathy" EXACT [] synonym: "Spinal Cord Compression" EXACT [] xref: HP:0002341 is_a: HP:0012639 ! Abnormal Nervous System Morphology relationship: SCDO:0000663 NCIT:C16809 ! diagnosed using tool Magnetic Resonance Imaging relationship: SCDO:0000663 SCDO:0000963 ! diagnosed using tool Radiography relationship: SCDO:0000664 NCIT:C561 ! treated with Ibuprofen relationship: SCDO:0000664 SCDO:0000903 ! treated with Physiotherapy relationship: SCDO:0000664 SCDO:1000017 ! treated with Surgery relationship: SCDO:1000220 SCDO:0001249 ! diagnosed using measurement X-Ray Image property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0002341 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000214 xsd:string [Term] id: HP:0002427 name: Motor Aphasia def: "Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it." [] synonym: "Broca's Aphasia" EXACT [] synonym: "Expressive Aphasia" EXACT [] synonym: "Loss of Expressive Speech" EXACT [] xref: HP:0002427 is_a: HP:0012638 ! Abnormal Nervous System Physiology property_value: SCDO:0000340 HP:0002427 property_value: SCDO:0000468 "Aphasia is one of the most common communication disorders to affect the brain. Although there are no official figures, the Stroke Association estimates more than 376,000 stroke survivors in the UK are living with aphasia. Aphasia can affect people of all ages, including children. It's most common in people over 65 years old as stroke and common progressive neurological conditions tend to affect older adults" xsd:string property_value: SCDO:0000661 "Aphasia is caused by damage to parts of the brain responsible for understanding and using language. Common causes include:stroke, thought to be the most common cause, around one in three people experience some degree of aphasia after having a stroke.severe head injury. brain tumour.progressive neurological conditions (conditions that over time cause progressive brain and nervous system damage)." xsd:string property_value: SCDO:0000662 "Experience difficulties with understanding or expressing language." xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000773 xsd:string [Term] id: HP:0002516 name: Intracranial Hypertension def: "An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid." [] synonym: "Increased Intracranial Pressure" EXACT [] synonym: "Intracranial Pressure Elevation" EXACT [] synonym: "Rise in Pressure Inside Skull" EXACT [] xref: HP:0002516 is_a: HP:0000822 ! Hypertension is_a: HP:0012638 ! Abnormal Nervous System Physiology relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0002516 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000655 xsd:string [Term] id: HP:0002597 name: Abnormality of the Vasculature def: "An abnormality of the vasculature." [] xref: HP:0002597 is_a: HP:0001626 ! Abnormality of Cardiovascular System property_value: SCDO:0000340 HP:0002597 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000373 xsd:string [Term] id: HP:0002650 name: Scoliosis def: "The presence of an abnormal lateral curvature of the spine." [] synonym: "Abnormal Curving of the Spine" EXACT [] xref: HP:0002650 is_a: HP:0000924 ! Abnormality of the Skeletal System relationship: SCDO:0000664 SCDO:0000903 ! treated with Physiotherapy relationship: SCDO:0000664 SCDO:1000017 ! treated with Surgery relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0002650 xsd:string property_value: SCDO:0000661 "Congenital vertebral anomalies, idiopathic, result of a neuromuscular condition." xsd:string property_value: SCDO:0000662 "Spinal tortuosity." xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001026 xsd:string [Term] id: HP:0002653 name: Bone Pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone." [] xref: HP:0002653 is_a: SCDO:0000851 ! Pain relationship: SCDO:0000664 SCDO:0000050 ! treated with Analgesic relationship: SCDO:0000664 SCDO:0000057 ! treated with Anti-Inflammatory Agent relationship: SCDO:0000664 SCDO:1000017 ! treated with Surgery relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0002653 xsd:string property_value: SCDO:0000661 "A number of diseases may cause bone pain including osteoarthritis, Paget's disease, sickle cell anemia, and bone cancer. Acute leukemia;Acute rheumatic fever, a very dangerous disease that can cause permanent cardiac damage. Bursitis;Fibromyalgia like disease has been studied as a cause of joint pain in the child.Hypermobility syndrome can present with knee or ankle pain;Injury such as a fracture. Juvenile rheumatoid arthritis;Lupus;Lyme disease, which is transmitted by ticks and is characterized by debilatating polyarthritis, neurologic symptoms, and erythema migrans.;Osteomyelitis;Osteosarcoma.Septic arthritis, a severe infection of the joint that can lead to permanent joint damage.Synovitis;Viral diseases, including the measles, influenza, mononucleosis, chickenpox, and mumps." xsd:string property_value: SCDO:0000662 "Stimulation of specialized pain-sensitive nerve fibers (nociceptors) that innervate bone tissue leads to the sensation of bone pain. Bone pain originates from both the periosteum and the bone marrow which relay nociceptive signals to the brain creating the sensation of pain. Bone tissue is innervated by both myelinated (A beta and A delta fiber) and unmyelinated (C fiber) sensory neurons. In combination, they can provide an initial burst of pain, initiated by the faster myelinated fibers, followed by a slower and longer lasting dull pain initiated by unmyelinated fibers" xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000154 xsd:string [Term] id: HP:0002659 name: Bone Fragility def: "An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture." [] synonym: "Abnormal Susceptibility to Fractures" EXACT [] synonym: "Frequent Broken Bones" EXACT [] synonym: "Increased Bone Fragility" EXACT [] synonym: "Increased Susceptibility to Fractures" EXACT [] synonym: "Increased Tendency to Fractures" EXACT [] xref: HP:0002659 is_a: HP:0000924 ! Abnormality of the Skeletal System property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0002659 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000153 xsd:string [Term] id: HP:0002665 name: Lymphoma def: "A cancer originating in lymphocytes and presenting as a solid tumor of lymphoid cells." [] synonym: "Cancer of Lymphatic System" EXACT [] xref: HP:0002665 is_a: OBI:1110053 ! Cancer relationship: SCDO:0000664 SCDO:0000506 ! treated with Hematopoietic Stem Cell Transplantation relationship: SCDO:0000664 SCDO:1000017 ! treated with Surgery property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0002665 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000707 xsd:string [Term] id: HP:0002715 name: Abnormality of the Immune System def: "An abnormality of the immune system." [] xref: HP:0002715 is_a: HP:0000118 ! Abnormal Phenotype property_value: SCDO:0000303 "Include as sub-class:\nAcquired Immunodeficiency Syndrome (term in NCIT)" xsd:string property_value: SCDO:0000340 HP:0002715 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000273 xsd:string [Term] id: HP:0002725 name: Systemic Lupus Erythematosus def: "A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes." [] xref: HP:0002725 is_a: SCDO:0000267 ! Comorbid Disease relationship: SCDO:0000663 CMO:0000364 ! diagnosed using tool Complete Blood Count relationship: SCDO:0000663 NCIT:C17241 ! diagnosed using tool Urine Test relationship: SCDO:0000663 SCDO:0000217 ! diagnosed using tool Chest X-Ray relationship: SCDO:0000664 SCDO:0000057 ! treated with Anti-Inflammatory Agent relationship: SCDO:0000664 SCDO:0000709 ! treated with Malaria Prophylaxis property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0002725 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001137 xsd:string [Term] id: HP:0002808 name: Kyphosis def: "Exaggerated anterior convexity of the thoracic vertebral column." [] synonym: "Gibbus Deformity" EXACT [] synonym: "Hunched Back" EXACT [] synonym: "Hyperkyphosis" EXACT [] synonym: "Round Back" EXACT [] xref: HP:0002808 is_a: HP:0000924 ! Abnormality of the Skeletal System relationship: SCDO:0000664 NCIT:C16567 ! treated with Exercise relationship: SCDO:0000664 SCDO:1000017 ! treated with Surgery property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0002808 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000679 xsd:string [Term] id: HP:0002829 name: Arthralgia def: "Joint pain." [] synonym: "Arthralgias" EXACT [] synonym: "Joint pain" EXACT [] xref: HP:0002829 is_a: SCDO:0000851 ! Pain relationship: SCDO:0000664 SCDO:0000050 ! treated with Analgesic relationship: SCDO:0000664 SCDO:0000057 ! treated with Anti-Inflammatory Agent relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0002829 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000074 xsd:string [Term] id: HP:0002870 name: Obstructive Sleep Apnea def: "A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow." [] synonym: "Obstructive Sleep Apnoea" EXACT [] xref: HP:0002870 is_a: HP:0000708 ! Behavioural Abnormality relationship: SCDO:0000663 SCDO:0000417 ! diagnosed using tool Electrocardiography relationship: SCDO:0000663 SCDO:0000420 ! diagnosed using tool Electroencephalography relationship: SCDO:0000663 SCDO:0000945 ! diagnosed using tool Pulse Oximetry (Rest) relationship: SCDO:0000664 SCDO:0000498 ! treated with Healthy Lifestyle relationship: SCDO:0000664 SCDO:0000689 ! treated with Lifestyle relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0002870 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000820 xsd:string [Term] id: HP:0002907 name: Microscopic Hematuria def: "Microscopic hematuria detected by dipstick or microscopic examination of the urine." [] synonym: "Microhematuria" EXACT [] synonym: "Occult Hematuria" EXACT [] synonym: "Small Amount of Blood in Urine" EXACT [] xref: HP:0002907 is_a: SCDO:0000508 ! Hematuria relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0002907 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0004833 xsd:string [Term] id: HP:0002913 name: Myoglobinuria def: "Presence of myoglobin in the urine." [] synonym: "Increased Urine Myoglobin Level" EXACT [] xref: HP:0002913 is_a: HP:0000079 ! Abnormality of the Urinary System relationship: SCDO:0000664 SCDO:0000983 ! treated with Renal Dialysis relationship: SCDO:0000664 SCDO:0001129 ! treated with Supportive Therapeutics property_value: SCDO:0000340 HP:0002913 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000783 xsd:string [Term] id: HP:0002955 name: Granulomatosis def: "Any disease characterized by the formation of numerous granulomas." [] comment: Has disease stages: Allergic (Churg-strauss syndrome), eosinophilic (langerhan cell histiocytosis), langerhans (langerhan cell histiocytosis), lymphomatoid, siderotica, wegeners.\n\nIs caused by: Genetic predispositions, autoimmune mediated, chronic inflammation. xref: HP:0002955 is_a: IDO:0000586 ! Infection relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors property_value: SCDO:0000303 "Source needed for additional information." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0002955 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000464 xsd:string [Term] id: HP:0003077 name: Hyperlipidemia def: "An elevated lipid concentration in the blood." [] synonym: "Elevated Lipids in Blood" EXACT [] xref: HP:0003077 is_a: HP:0003611 ! Dyslipidemia property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0003077 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000590 xsd:string [Term] id: HP:0003110 name: Abnormal Urine Homeostasis def: "An abnormality of the composition of urine or the levels of its components." [] synonym: "Abnormal Urine Chemistry" EXACT [] synonym: "Abnormality of Urine Homeostasis" EXACT [] xref: HP:0003110 is_a: HP:0000079 ! Abnormality of the Urinary System is_a: SCDO:0002674 ! Abnormality of Metabolism/Homeostasis property_value: SCDO:0000340 HP:0003110 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000651 xsd:string [Term] id: HP:0003116 name: Abnormal Echocardiogram def: "An abnormality detectable by sonography of the heart (echocardiography)." [] synonym: "Abnormal ECG" EXACT [] synonym: "Abnormal Echocardiography" EXACT [] xref: HP:0003116 is_a: HP:0500015 ! Abnormal Cardiac Test property_value: SCDO:0000340 HP:0003116 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000267 xsd:string [Term] id: HP:0003126 name: Tubular Proteinuria def: "Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD)." [] synonym: "Low-Molecular-Weight Proteinuria" EXACT [] xref: HP:0003126 is_a: SCDO:0000932 ! Proteinuria relationship: SCDO:0000664 SCDO:0000055 ! treated with Angiotensin-Converting Enzyme Inhibitors property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0003126 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001196 xsd:string [Term] id: HP:0003155 name: Elevated Serum Alkaline Phosphatase def: "Abnormally increased serum levels of alkaline phosphatase activity." [] synonym: "Blood Alkaline Phosphatase Increased" EXACT [] synonym: "Decreased Circulating Alkaline Phosphatase Level" EXACT [] synonym: "Elevated Alkaline Phosphatase" EXACT [] synonym: "Elevated ALP" EXACT [] synonym: "High Serum Alkaline Phosphatase" EXACT [] synonym: "Increased Alkaline Phosphatase" EXACT [] synonym: "Reduced Circulating ALP" EXACT [] xref: HP:0003155 is_a: HP:0004379 ! Abnormality of Alkaline Phosphatase Level property_value: SCDO:0000340 HP:0003155 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000664 xsd:string [Term] id: HP:0003158 name: Hyposthenuria def: "An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine." [] comment: Urine specific gravity is lower than that of plasma < 1.008. xref: HP:0003158 is_a: HP:0004727 ! Impaired Renal Concentrating Ability relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives property_value: SCDO:0000303 "Could this be a synonym for 'Impaired Urinary Concentration' (SCDO:0000621)?" xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0003158 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0008046 xsd:string [Term] id: HP:0003198 name: Myopathy def: "A disorder of muscle unrelated to impairment of innervation or neuromuscular junction." [] synonym: "Muscle Tissue Disease" EXACT [] synonym: "Myopathic Changes" EXACT [] synonym: "Myopathies" EXACT [] xref: HP:0003198 is_a: SCDO:1000268 ! Abnormality of the Musculature relationship: SCDO:0000664 SCDO:0000050 ! treated with Analgesic relationship: SCDO:0000664 SCDO:0000057 ! treated with Anti-Inflammatory Agent relationship: SCDO:0000664 SCDO:0001129 ! treated with Supportive Therapeutics relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0003198 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000784 xsd:string [Term] id: HP:0003265 name: Neonatal Hyperbilirubinemia def: "A type of hyperbilirubinemia with neonatal onset." [] synonym: "High Blood Bilirubin Levels in Neonate" EXACT [] xref: HP:0003265 is_a: NCIT:C27088 ! Hyperbilirubinemia property_value: SCDO:0000340 HP:0003265 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0003776 xsd:string [Term] id: HP:0003282 name: Decreased Serum Alkaline Phosphatase def: "Abnormally reduced serum levels of alkaline phosphatase." [] synonym: "Low Alkaline Phosphatase" EXACT [] synonym: "Low ALP" EXACT [] synonym: "Reduced Serum Alkaline Phosphatase" EXACT [] xref: HP:0003282 is_a: HP:0004379 ! Abnormality of Alkaline Phosphatase Level property_value: SCDO:0000340 HP:0003282 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000667 xsd:string [Term] id: HP:0003302 name: Spondylolisthesis def: "Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra." [] synonym: "Displacement of One Backbone Compared to Another" EXACT [] synonym: "Slipped Backbone" EXACT [] synonym: "Spondylolithesis" EXACT [] xref: HP:0003302 is_a: HP:0000924 ! Abnormality of the Skeletal System relationship: SCDO:0000664 SCDO:0000050 ! treated with Analgesic relationship: SCDO:0000664 SCDO:0000057 ! treated with Anti-Inflammatory Agent relationship: SCDO:0000664 SCDO:0000903 ! treated with Physiotherapy relationship: SCDO:0000664 SCDO:1000017 ! treated with Surgery property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0003302 xsd:string property_value: SCDO:0000661 "Spondylolysis, arthritis, degeneration, trauma, metastases or metabolic bone disease, congenital." xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001102 xsd:string [Term] id: HP:0003394 name: Muscle Cramps def: "Sudden and involuntary contractions of one or more muscles." [] synonym: "Muscle Spasm" EXACT [] xref: HP:0003394 is_a: SCDO:1000268 ! Abnormality of the Musculature relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: SCDO:0000340 HP:0003394 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000778 xsd:string [Term] id: HP:0003418 name: Back Pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back." [] xref: HP:0003418 is_a: SCDO:0000851 ! Pain relationship: SCDO:0000664 SCDO:0000050 ! treated with Analgesic relationship: SCDO:0000664 SCDO:0000057 ! treated with Anti-Inflammatory Agent relationship: SCDO:0000664 SCDO:1000017 ! treated with Surgery relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 HP:0003418 property_value: SCDO:0000661 "muscle strain, trauma, surgery, fracture, osteoporosis, fibromialgia, spinal disc herniation." xsd:string property_value: SCDO:0000662 "Pain in the lower back." xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000095 xsd:string [Term] id: HP:0003457 name: EMG Abnormality def: "Abnormal results of investigations using electromyography (EMG)." [] synonym: "Abnormal Electromyography (EMG)." EXACT [] synonym: "Abnormal Electromyography Finding" EXACT [] synonym: "Abnormal EMG" EXACT [] synonym: "Electromyogram Abnormal" EXACT [] synonym: "EMG Abnormalities" EXACT [] xref: HP:0003457 is_a: SCDO:1000268 ! Abnormality of the Musculature property_value: SCDO:0000340 HP:0003457 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000428 xsd:string [Term] id: HP:0003470 name: Paralysis def: "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Motor paralysis is often accompanied by an impairment in the facility of movement." [] synonym: "Inability to Move" EXACT [] xref: HP:0003470 is_a: HP:0012638 ! Abnormal Nervous System Physiology relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0003470 xsd:string property_value: SCDO:0000661 "Most paralysis is due to strokes or injuries such as spinal cord injury or a broken neck. Other causes of paralysis include: Nerve diseases such as amyotrophic lateral sclerosis, Autoimmune diseases such as Guillain-Barre syndrome, Bell's palsy, which affects muscles in the face, Polio used to be a cause of paralysis, but polio no longer occurs in the U.S." xsd:string property_value: SCDO:0000662 "Paralysis can be complete or partial. It can occur on one or both sides of your body. It can also occur in just one area, or it can be widespread. Paralysis of the lower half of your body, including both legs, is called paraplegia. Paralysis of the arms and legs is quadriplegia." xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000865 xsd:string [Term] id: HP:0003563 name: Decreased Circulating LDL Cholesterol Level def: "Reduced amount in the blood of the lipoprotein:cholesterol complex that transports cholesterol out of the arteries and around the body, for use by various tissues in normal bodily functions." [] synonym: "Decreased Circulating Low-Density Lipoprotein Levels" EXACT [] synonym: "Decreased LDL" EXACT [] synonym: "Decreased LDL Cholesterol Concentration" EXACT [] synonym: "Decreased LDL Cholesterol Level" EXACT [] synonym: "Decreased LDLc Concentration" EXACT [] synonym: "Low Circulating LDL Cholesterol Level" EXACT [] synonym: "Low LDL-Cholestrol Levels" EXACT [] synonym: "Reduced Circulating LDL Cholesterol Level" EXACT [] xref: HP:0003563 is_a: HP:0003611 ! Dyslipidemia property_value: SCDO:0000340 MP:0000183 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000703 xsd:string [Term] id: HP:0003573 name: Increased Total Bilirubin def: "Increased concentration of total (conjugated and unconjugated) bilirubin in the blood." [] synonym: "High Bili Total" EXACT [] synonym: "High Total Bilirubin" EXACT [] synonym: "Increased Bilirubin" EXACT [] xref: HP:0003573 is_a: NCIT:C27088 ! Hyperbilirubinemia property_value: SCDO:0000340 HP:0003573 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000681 xsd:string [Term] id: HP:0003611 name: Dyslipidemia def: "Anomalous concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the blood." [] synonym: "Abnormal Circulating Lipid Concentration" EXACT [] synonym: "Abnormal Circulating Lipid Level" EXACT [] synonym: "Dyslipidaemia" EXACT [] xref: HP:0003611 is_a: MP:0002118 ! Abnormal Lipid Homeostasis relationship: SCDO:0000664 NCIT:C16567 ! treated with Exercise relationship: SCDO:0000664 SCDO:0000497 ! treated with Healthy Diet relationship: SCDO:0000664 SCDO:0000498 ! treated with Healthy Lifestyle property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/MP_0003949 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000404 xsd:string [Term] id: HP:0003641 name: Hemoglobinuria def: "The presence of free hemoglobin in the urine." [] comment: If, following hemolysis, haptoglobins (hemoglobin-binding proteins) are saturated, then free hemoglobin appears in the urine. synonym: "Increased Urine Hemoglobin Level" EXACT [] xref: HP:0003641 is_a: HP:0000077 ! Abnormality of the Kidney is_a: SCDO:1000383 ! Renal Complication relationship: SCDO:0000663 NCIT:C17241 ! diagnosed using tool Urine Test relationship: SCDO:0000664 SCDO:0001129 ! treated with Supportive Therapeutics relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors property_value: SCDO:0000340 HP:0003641 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000554 xsd:string [Term] id: HP:0003765 name: Psoriasis def: "A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales)." [] synonym: "Psoriasiform Dermatitis" EXACT [] xref: HP:0003765 is_a: HP:0011122 ! Abnormality of Skin Physiology property_value: SCDO:0000340 HP:0003765 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000936 xsd:string [Term] id: HP:0003774 name: End Stage Kidney Disease def: "A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine, greater than 3 months." [] synonym: "End Stage Renal Disease" EXACT [] synonym: "End Stage Renal Disease (ESRD)" EXACT [] synonym: "End Stage Renal Failure" EXACT [] synonym: "End-Stage Renal Disease" EXACT [] synonym: "End-Stage Renal Failure" EXACT [] synonym: "ESKD" EXACT [] synonym: "ESRD" EXACT [] synonym: "Stage 5 Chronic Kidney Disease" EXACT [] xref: HP:0003774 is_a: SCDO:0000226 ! Chronic Kidney Disease relationship: SCDO:0000664 SCDO:0000983 ! treated with Renal Dialysis relationship: SCDO:0000664 SCDO:0000985 ! treated with Renal Transplant relationship: SCDO:1000219 SCDO:0000588 ! diagnosed by Hyperkalemia relationship: SCDO:1000220 CMO:0000057 ! diagnosed using measurement Serum Creatinine Level relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000303 "Check and show which source was used for the description and whether the description was adapted from the source. -- Provide source for additional info." xsd:string property_value: SCDO:0000340 HP:0003774 property_value: SCDO:0000468 "Variable" xsd:string property_value: SCDO:0000661 "Final outcome of any form of kidney disease ; may be caused by diabetes, hypertension, glomerular disease, polycystic kidney disease, sickle cell disease, chronic toxic injury." xsd:string property_value: SCDO:0000662 "Elevated serum creatinine, uremia, acidosis, hyperkalemia, hyperphosphatemia, secondary hyperpararthyroidism, anemia, hypertension, fluid retention." xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000430 xsd:string [Term] id: HP:0004312 name: Abnormality of Reticulocytes def: "A reticulocyte abnormality." [] xref: HP:0004312 is_a: HP:0001877 ! Abnormal Erythrocyte Morphology property_value: SCDO:0000340 HP:0004312 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000265 xsd:string [Term] id: HP:0004364 name: Abnormal Circulating Nitrogen Compound Concentration def: "Any deviation from the normal concentration of a nitrogen compound in the blood circulation." [] xref: HP:0004364 is_a: HP:0032180 ! Abnormal Circulating Metabolite Concentration property_value: SCDO:0000340 HP:0004364 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000647 xsd:string [Term] id: HP:0004379 name: Abnormality of Alkaline Phosphatase Level def: "An abnormality of alkaline phosphatase level." [] comment: Note that the alkaline phosphatase family has four isoenzymes in humans, each of which additionally can have different isoforms. The primary clinical importance of measuring alkaline phosphatase is to check the possibility of bone disease or liver disease. synonym: "Abnormality Alkaline Phosphatase Level" EXACT [] synonym: "Abnormality of Alkaline Phosphatase Activity" EXACT [] synonym: "Abnormality of ALP Level" EXACT [] synonym: "Alkaline Phosphatase Abnormal" EXACT [] xref: HP:0004379 is_a: HP:0012379 ! Abnormal Enzyme/Coenzyme Activity property_value: SCDO:0000340 HP:0004379 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000666 xsd:string [Term] id: HP:0004447 name: Poikilocytosis def: "The presence of abnormally shaped erythrocytes." [] xref: HP:0004447 is_a: HP:0001877 ! Abnormal Erythrocyte Morphology property_value: SCDO:0000340 HP:0004447 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000245 xsd:string [Term] id: HP:0004586 name: Biconcave Vertebral Bodies def: "Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward." [] synonym: "Biconcave Vertebrae" EXACT [] synonym: "Fish Mouth Deformity" EXACT [] synonym: "Fish Vertebrae" EXACT [] synonym: "Step Vertebrae" EXACT [] xref: HP:0004586 is_a: HP:0000924 ! Abnormality of the Skeletal System relationship: SCDO:0000664 SCDO:0000050 ! treated with Analgesic property_value: SCDO:0000340 HP:0004586 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000118 xsd:string [Term] id: HP:0004727 name: Impaired Renal Concentrating Ability def: "A defect in the ability to concentrate the urine." [] synonym: "UCD" EXACT [] synonym: "Urine Concentrating Defect" EXACT [] synonym: "Urine Concentration Defect" EXACT [] xref: HP:0004727 is_a: HP:0000077 ! Abnormality of the Kidney relationship: SCDO:0000664 SCDO:0000147 ! treated with Blood Transfusion property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0004727 xsd:string property_value: SCDO:0000468 "Notable within the first decade of life." xsd:string property_value: SCDO:0000661 "Can be caused by tubular damage in the kidney; can be seen in sickle cell disease and sickle cell trait." xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000621 xsd:string [Term] id: HP:0004756 name: Ventricular Tachycardia def: "A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms)." [] comment: Ventricular tachycardia (VT) is a potentially life-threatening ventricular arrhythmia that presents as a wide QRS complex tachycardia, and is defined as three or more consecutive QRS complexes with a duration longer than 120 milliseconds (ms) and a rate of 100 beats per minute or more, whereby the complexes have a ventricular origin. VT can be subdivided as follows: (i) sustained VT persists for 30 seconds or more; (ii) non-sustained VT lasts less than 30 seconds; (iii) monomorphic VT displays a uniform QRS morphology; and (iv) polymorphic VT displays QRS morphologies that variy from beat to beat. VT is observed most commonly in individuals with structural heart disease or acute myocardial infarction (MI). VT may also be observed in in the setting of drug toxicity or electrolyte abnormalities or in individuals with Mendelian disease. synonym: "VT" EXACT [] xref: HP:0004756 is_a: SCDO:0001851 ! Tachycardia property_value: http://purl.org/dc/elements/1.1/source HP:0004756 property_value: SCDO:0000340 HP:0004756 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0003769 xsd:string [Term] id: HP:0004825 name: Increased Hemoglobin Oxygen Affinity def: "An abnormal increase in the binding affinity of hemoglobin for oxygen." [] synonym: "Increased Haemoglobin Oxygen Affinity" EXACT [] xref: HP:0004825 is_a: HP:0020054 ! Abnormal Erythrocyte Physiology property_value: SCDO:0000340 HP:0004825 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000248 xsd:string [Term] id: HP:0004870 name: Chronic Hemolytic Anemia def: "A chronic form of hemolytic anemia." [] xref: HP:0004870 is_a: HP:0001878 ! Hemolytic Anemia is_a: SCDO:0005167 ! Chronic Anemia relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0004870 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001248 xsd:string [Term] id: HP:0005162 name: Left Ventricular Dysfunction def: "Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole." [] synonym: "Impaired Left Ventricular Function" EXACT [] synonym: "Left Ventricular Failure" EXACT [] synonym: "Left Ventricular Impairment" EXACT [] synonym: "Left-Sided Heart Failure" EXACT [] xref: HP:0005162 is_a: HP:0011025 ! Abnormal Cardiovascular System Physiology relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0005162 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0002710 xsd:string [Term] id: HP:0005268 name: Spontaneous Abortion def: "A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 20th week of pregnancy." [] synonym: "Miscarriage" EXACT [] xref: HP:0005268 is_a: HP:0001787 ! Abnormal Delivery is_a: NCIT:C34941 ! Pregnancy Complication relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care property_value: SCDO:0000340 HP:0005268 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001103 xsd:string [Term] id: HP:0005305 name: Cerebral Venous Thrombosis def: "Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow." [] synonym: "Blood Clot in Cerebral Vein" EXACT [] synonym: "Cerebral Thrombosis" EXACT [] synonym: "Cerebral Vein Thrombosis" EXACT [] xref: HP:0005305 is_a: HP:0001977 ! Abnormal Thrombosis is_a: HP:0002060 ! Abnormality of the Cerebrum relationship: SCDO:0000663 NCIT:C16809 ! diagnosed using tool Magnetic Resonance Imaging relationship: SCDO:0000663 NCIT:C17230 ! diagnosed using tool Ultrasound Test relationship: SCDO:0000663 SCDO:0000133 ! diagnosed using tool Blood Test relationship: SCDO:0000663 SCDO:0001327 ! diagnosed using tool Fluorescein Angiography relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: SCDO:0000303 "Add \"Cerebral Venous Sinus Thrombosis\" (in the Stroke Ontology) as a sub-class" xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0005305 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000211 xsd:string [Term] id: HP:0005318 name: Cerebral Vasculitis def: "Inflammation of the blood vessels within the brain." [] xref: HP:0005318 is_a: HP:0002060 ! Abnormality of the Cerebrum relationship: SCDO:1000219 HP:0012229 ! diagnosed by Cerebrospinal Fluid Pleocytosis property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0005318 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000210 xsd:string [Term] id: HP:0005518 name: Increased Mean Corpuscular Volume def: "Larger than normal size of erythrocytes. Macrocytosis refers to a mean cell volume (MCV) greater than 100 fL. If macrocytosis is an isolated abnormality, the amount of hemoglobin in the cell increases proportionately, so the mean cell hemoglobin concentration (MCHC) remains within normal limits." [] synonym: "Erythrocyte Macrocytosis" EXACT [] synonym: "High MCV" EXACT [] synonym: "Increased MCV" EXACT [] xref: HP:0005518 is_a: HP:0025065 ! Abnormal Mean Corpuscular Volume property_value: SCDO:0000340 HP:0005518 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000626 xsd:string [Term] id: HP:0005560 name: Imbalanced Hemoglobin Synthesis def: "Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia." [] xref: HP:0005560 is_a: HP:0001877 ! Abnormal Erythrocyte Morphology is_a: SCDO:1000060 ! SCD Molecular Phenotype relationship: SCDO:1000015 SCDO:0000042 ! modifies Alpha Thalassemia relationship: SCDO:1000015 SCDO:0000251 ! modifies Clinical Phenotype of Beta Thalassemia property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0005560 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001383 xsd:string [Term] id: HP:0006689 name: Bacterial Endocarditis def: "A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves." [] synonym: "Infective Endocarditis" EXACT [] xref: HP:0006689 is_a: NCIT:C2890 ! Bacterial Infection relationship: SCDO:0000664 IDO:0000560 ! treated with Antifungal relationship: SCDO:0000664 NCIT:C258 ! treated with Antibiotic property_value: http://purl.org/dc/elements/1.1/source HP:0006689 property_value: SCDO:0000303 "Check and show which source was used for the description and whether the description was adapted from the source. -- Provide source for additional info." xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000099 xsd:string [Term] id: HP:0007018 name: Attention Deficit Hyperactivity Disorder def: "Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient." [] synonym: "ADHD" EXACT [] synonym: "Attention Deficit" EXACT [] synonym: "Attention Deficit Disorder" EXACT [] synonym: "Attention Deficit-Hyperactivity Disorder" EXACT [] synonym: "Attention Deficits" EXACT [] synonym: "Childhood Attention Deficit/Hyperactivity Disorder" EXACT [] xref: HP:0007018 is_a: HP:0000708 ! Behavioural Abnormality property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0007018 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000090 xsd:string [Term] id: HP:0007340 name: Leg Weakness def: "Weakness of the muscles of the legs." [] comment: Inability to perform rapid, alternating movements. synonym: "Hind Limb Weakness" EXACT [] synonym: "Hindlimb Weakness" EXACT [] synonym: "Leg Weakness" EXACT [] synonym: "Lower Extremity Weakness" EXACT [] synonym: "Lower Limb Muscle Weakness" EXACT [] synonym: "Lower Limb Weakness" EXACT [] synonym: "Muscle Weakness in Lower Limbs" EXACT [] xref: HP:0007340 is_a: HP:0025142 ! Constitutional Symptom is_a: SCDO:1000268 ! Abnormality of the Musculature relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors property_value: SCDO:0000340 HP:0007340 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000686 xsd:string [Term] id: HP:0007902 name: Vitreous Hemorrhage def: "Bleeding within the vitreous compartment of the eye." [] synonym: "Hemorrage Within the Vitreous Humor" EXACT [] synonym: "Vitreous Haemorrhage" EXACT [] xref: HP:0007902 is_a: HP:0000478 ! Abnormality of the Eye is_a: NCIT:C115319 ! Ophthalmologic Complication relationship: SCDO:0000664 SCDO:0001237 ! treated with Vitrectomy relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 HP:0007902 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001238 xsd:string [Term] id: HP:0008245 name: Secondary Hypothyroidism def: "A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion." [] synonym: "Thyroid Stimulating Hormone Deficiency" EXACT [] synonym: "Thyrotropin Deficiency" EXACT [] synonym: "TSH Deficient Hypothyroidism" EXACT [] xref: HP:0008245 is_a: HP:0000821 ! Hypothyroidism property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0008245 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001028 xsd:string [Term] id: HP:0008404 name: Nail Dystrophy def: "Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate." [] synonym: "Dystrophic Nails" EXACT [] synonym: "Onychodystrophy" EXACT [] synonym: "Poor nail formation" EXACT [] xref: HP:0008404 is_a: HP:0001574 ! Abnormality of the Integument relationship: SCDO:0000664 IDO:0000560 ! treated with Antifungal relationship: SCDO:0000664 NCIT:C258 ! treated with Antibiotic property_value: SCDO:0000340 HP:0008404 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000788 xsd:string [Term] id: HP:0008682 name: Acute Tubular Necrosis def: "Acute death of renal tubular cells that usually results from prolonged renal ischemia, nephrotoxins, or sepsis." [] synonym: "ATN" EXACT [] synonym: "Renal Tubular Necrosis" EXACT [] xref: HP:0008682 is_a: SCDO:1000000 ! Acute Phenotype relationship: SCDO:0000664 SCDO:0000983 ! treated with Renal Dialysis relationship: SCDO:0000664 SCDO:0001129 ! treated with Supportive Therapeutics relationship: SCDO:1000220 CMO:0000057 ! diagnosed using measurement Serum Creatinine Level relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 HP:0008682 property_value: SCDO:0000468 "Can occur at any age." xsd:string property_value: SCDO:0000472 "The clinical course of acute tubular necrosis may be divided into initiation, maintenance, and recovery phases." xsd:string property_value: SCDO:0000661 "Renal ischemia (which can occur due to prolonged prerenal states), nephrotoxins, or sepsis. In sickle cell disease, may occur due to renal ischemia related to sickle crisis." xsd:string property_value: SCDO:0000662 "Loss of kidney function, reduced urine output, elevated serum creatinine." xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000020 xsd:string [Term] id: HP:0009045 name: Exercise-Induced Rhabdomyolysis def: "Rhabdomyolysis induced by exercise." [] synonym: "Rhabdomyolysis with Exercise" EXACT [] xref: HP:0009045 is_a: SCDO:1000260 ! Symptom Induced by Strenuous Exercise relationship: SCDO:0000664 SCDO:0001129 ! treated with Supportive Therapeutics relationship: SCDO:0000664 SCDO:1000004 ! treated with Renal Replacement Therapy relationship: SCDO:1000199 NCIT:C16567 ! induced by Exercise property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0009045 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001308 xsd:string [Term] id: HP:0009830 name: Peripheral Neuropathy def: "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system." [] synonym: "Peripheral Nerve Damage" EXACT [] synonym: "Peripheral Neuritis" EXACT [] xref: HP:0009830 is_a: HP:0012639 ! Abnormal Nervous System Morphology relationship: SCDO:0000663 NCIT:C18772 ! diagnosed using tool Personal Medical History relationship: SCDO:0000663 OGMS:0000088 ! diagnosed using tool Patient Symptom Report relationship: SCDO:0000663 SCDO:0000133 ! diagnosed using tool Blood Test relationship: SCDO:0000663 SCDO:0000250 ! diagnosed using tool Clinical Neuropathy Assessment relationship: SCDO:0000664 SCDO:0000382 ! treated with Diet, Food, and Nutrition relationship: SCDO:0000664 SCDO:1000017 ! treated with Surgery relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors property_value: http://purl.org/dc/elements/1.1/source http://www.nlm.nih.gov/medlineplus/ency/article/000593.htm property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0009830 xsd:string property_value: SCDO:0000662 "Symptoms depend on which nerve is damaged, and whether the damage affects one nerve, several nerves, or the whole body. Pain and numbness: Tingling or burning in the arms and legs may be an early sign of nerve damage. These feelings often start in your toes and feet. You may have deep pain. This often happens in the feet and legs. You may lose feeling in your legs and arms. Because of this, you may not notice when you step on something sharp. You may not notice when you touch something that is too hot or cold, like the water in a bathtub. You may not know when you have a small blister or sore on your feet. Numbness may make it harder to tell where your feet are moving and can cause a loss of balance. Muscle problems: Damage to the nerves can make it harder to control muscles. It can also cause weakness. You may notice problems moving a part of your body. You may fall because your legs buckle. You may trip over your toes. Doing tasks such as buttoning a shirt may be harder. You may also notice that your muscles twitch or cramp. Your muscles may become smaller. Problems with body organs: People with nerve damage may have problems digesting food. You may feel full or bloated and have heartburn after eating only a little food. Sometimes you may vomit food that has not been digested well. You may have either loose stools or hard stools. Some people have problems swallowing. Damage to the nerves to your heart may cause you to feel light-headed, or faint, when you stand up. Angina is the warning chest pain for heart disease and heart attack. Nerve damage may \"hide\" this warning sign. You should learn other warning signs of a heart attack. They are sudden fatigue, sweating, shortness of breath, nausea, and vomiting." xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000884 xsd:string [Term] id: HP:0010628 name: Facial Nerve Palsy def: "Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form." [] synonym: "Bell's Palsy" EXACT [] synonym: "Cranial Nerve VII Palsy" EXACT [] synonym: "Facial Muscle Weakness of Muscles Innervated by CN VII" EXACT [] synonym: "Facial Nerve Paralysis" EXACT [] synonym: "Facial Palsy" EXACT [] synonym: "Facial Paralysis" EXACT [] synonym: "Seventh Cranial Nerve Palsy" EXACT [] synonym: "VIIth Cranial Nerve Palsy" EXACT [] xref: HP:0010628 is_a: HP:0000271 ! Abnormality of the Face relationship: SCDO:0000663 CMO:0000364 ! diagnosed using tool Complete Blood Count relationship: SCDO:0000663 NCIT:C16809 ! diagnosed using tool Magnetic Resonance Imaging relationship: SCDO:0000663 NCIT:C18772 ! diagnosed using tool Personal Medical History relationship: SCDO:0000663 OGMS:0000088 ! diagnosed using tool Patient Symptom Report relationship: SCDO:0000663 SCDO:0000133 ! diagnosed using tool Blood Test relationship: SCDO:0000663 SCDO:0000898 ! diagnosed using tool Physical Examination relationship: SCDO:0000664 SCDO:0000822 ! treated with Occupational Therapy relationship: SCDO:0000664 SCDO:0000903 ! treated with Physiotherapy relationship: SCDO:0000664 SCDO:1000017 ! treated with Surgery relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors relationship: SCDO:1000219 HP:0001250 ! diagnosed by Seizure property_value: SCDO:0000303 "- Provide source for additional info." xsd:string property_value: SCDO:0000340 HP:0010628 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001315 xsd:string [Term] id: HP:0010876 name: Abnormal Circulating Protein Level def: "An abnormal level of a circulating protein in the blood." [] synonym: "Abnormality of Circulating Protein Level" EXACT [] synonym: "Blood Protein Disease" EXACT [] synonym: "Serum Protein Abnormality" EXACT [] xref: HP:0010876 is_a: HP:0032180 ! Abnormal Circulating Metabolite Concentration property_value: SCDO:0000340 https://hpo.jax.org/app/browse/term/HP:0010876 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000438 xsd:string [Term] id: HP:0010885 name: Osteonecrosis def: "A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply." [] comment: The interruption of the blood supply may have many different causes such as rapid growth, heredity causes, trauma or overuse, anatomic conformation, dietary imbalances or secondary effects of other diseases. synonym: "Aseptic Bone Necrosis" EXACT [] synonym: "Aseptic necrosis" EXACT [] synonym: "Avascular Bone Necrosis" EXACT [] synonym: "Avascular Necrosis" EXACT [] synonym: "Avascular Necrosis (AVN)" EXACT [] synonym: "AVN" EXACT [] synonym: "Bone Infarction" EXACT [] synonym: "Bone Infarcts" EXACT [] synonym: "Bone Necrosis" EXACT [] synonym: "Ischemic Bone Necrosis" EXACT [] synonym: "Osteochondronecrosis" EXACT [] xref: HP:0010885 is_a: HP:0000924 ! Abnormality of the Skeletal System is_a: SCDO:0000954 ! Quality of Life Related SCD Symptoms and Complications relationship: SCDO:0000664 SCDO:0000050 ! treated with Analgesic relationship: SCDO:0000664 SCDO:1000017 ! treated with Surgery relationship: SCDO:1000202 SCDO:0008623 ! caused by Vaso-Occlusion relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: http://purl.org/dc/elements/1.1/source HP:0010885 property_value: http://purl.org/dc/elements/1.1/source http://purl.bioontology.org/ontology/MEDLINEPLUS/C0029445 xsd:string property_value: SCDO:0000303 "No one is sure what causes the disease. Risk factors include: -- -- Long-term steroid treatment -- Alcohol abuse -- Joint injuries -- Having certain diseases, including arthritis and cancer -- Doctors use imaging tests and other tests to diagnose osteonecrosis. -- -- Treatments include medicines, using crutches, limiting activities that put weight on the affected joints, electrical stimulation and surgery." xsd:string property_value: SCDO:0000340 HP:0010885 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000841 xsd:string [Term] id: HP:0011001 name: Increased Bone Mineral Density def: "An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often refered to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones." [] synonym: "Bone Sclerosis" EXACT [] synonym: "Increased Bone Density" EXACT [] synonym: "Osteosclerosis" EXACT [] synonym: "Osteosclerosis of Bones" EXACT [] xref: HP:0011001 is_a: HP:0000924 ! Abnormality of the Skeletal System relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0011001 xsd:string property_value: SCDO:0000661 "Ischemia, chronic infection, and tumor formation, osteoarthritis, osteoma, hepatitis C, . May be caused by faulty bone resorption as a result of some abnormality involving osteoclasts." xsd:string property_value: SCDO:0000662 "An increased whiteness (density) of affected bones." xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000629 xsd:string [Term] id: HP:0011007 name: Age of Onset def: "The age group in which disease manifestations appear." [] xref: HP:0011007 is_a: NCIT:C43646 ! Association property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0011007 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0003913 xsd:string [Term] id: HP:0011014 name: Abnormal Glucose Homeostasis def: "Abnormality of glucose homeostasis." [] xref: HP:0011014 is_a: SCDO:0002674 ! Abnormality of Metabolism/Homeostasis property_value: SCDO:0000340 HP:0011014 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000283 xsd:string [Term] id: HP:0011025 name: Abnormal Cardiovascular System Physiology def: "Abnormal functionality of the cardiovascular system." [] xref: HP:0011025 is_a: HP:0001626 ! Abnormality of Cardiovascular System property_value: SCDO:0000340 HP:0011025 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000368 xsd:string [Term] id: HP:0011106 name: Hypovolemia def: "A decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood." [] synonym: "Depleted Blood Volume" EXACT [] xref: HP:0011106 is_a: HP:0011025 ! Abnormal Cardiovascular System Physiology property_value: SCDO:0000340 HP:0011106 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0003035 xsd:string [Term] id: HP:0011121 name: Abnormality of Skin Morphology def: "Any morphological abnormality of the skin." [] xref: HP:0011121 is_a: HP:0000951 ! Abnormality of the Skin property_value: SCDO:0000340 HP:0011121 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000374 xsd:string [Term] id: HP:0011122 name: Abnormality of Skin Physiology def: "Any abnormality of the physiological function of the skin." [] xref: HP:0011122 is_a: HP:0000951 ! Abnormality of the Skin property_value: SCDO:0000340 HP:0011122 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000375 xsd:string [Term] id: HP:0011123 name: Skin Inflammation def: "The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes." [] synonym: "Abnormal Tendency to Infections of the Skin" EXACT [] synonym: "Dermatitis" EXACT [] synonym: "Inflammatory Abnormality of the Skin" EXACT [] synonym: "Inflammatory Skin Disease" EXACT [] synonym: "Maculopapular Rash" EXACT [] xref: HP:0011123 is_a: HP:0011122 ! Abnormality of Skin Physiology property_value: SCDO:0000340 HP:0011123 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001071 xsd:string [Term] id: HP:0011410 name: Caesarian Section def: "Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy)." [] xref: HP:0011410 is_a: HP:0001787 ! Abnormal Delivery relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0011410 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000168 xsd:string [Term] id: HP:0011413 name: Shoulder Dystocia def: "Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex." [] xref: HP:0011413 is_a: HP:0001787 ! Abnormal Delivery property_value: SCDO:0000340 HP:0011413 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001045 xsd:string [Term] id: HP:0011675 name: Arrhythmia def: "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [] synonym: "Abnormal Heart Rate" EXACT [] synonym: "Abnormality of Cardiac Conduction" EXACT [] synonym: "Arrhythmias" EXACT [] synonym: "Cardiac Arrhythmia" EXACT [] synonym: "Cardiac Arrhythmias" EXACT [] synonym: "Cardiac Conduction Abnormalities" EXACT [] synonym: "Cardiac Conduction Defects" EXACT [] synonym: "Cardiac Rhythm Disturbances" EXACT [] synonym: "Heart Rhythm Disorders" EXACT [] synonym: "Irregular Heart Beat" EXACT [] synonym: "Irregular Heartbeat" EXACT [] xref: HP:0011675 is_a: HP:0011025 ! Abnormal Cardiovascular System Physiology relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0011675 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0009619 xsd:string [Term] id: HP:0011695 name: Cerebellar Hemorrhage def: "Hemorrhage into the parenchyma of the cerebellum." [] xref: HP:0011695 is_a: HP:0002170 ! Intracranial Hemorrhage property_value: SCDO:0000303 "Need to include this term mentioned here to the SCDO: -- obstructive hydrocephalus" xsd:string property_value: SCDO:0000340 HP:0011695 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000201 xsd:string [Term] id: HP:0011856 name: Pica def: "An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month." [] xref: HP:0011856 is_a: HP:0000708 ! Behavioural Abnormality is_a: SCDO:0000954 ! Quality of Life Related SCD Symptoms and Complications relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0011856 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000904 xsd:string [Term] id: HP:0011868 name: Sciatica def: "Pain in the lower back and hip radiating in the distribution of the sciatic nerve." [] xref: HP:0011868 is_a: HP:0003418 ! Back Pain relationship: SCDO:0000664 SCDO:0000050 ! treated with Analgesic relationship: SCDO:0000664 SCDO:0000057 ! treated with Anti-Inflammatory Agent relationship: SCDO:0000664 SCDO:0000903 ! treated with Physiotherapy relationship: SCDO:0000664 SCDO:1000017 ! treated with Surgery property_value: SCDO:0000303 "Provide source for additional info. \n\nTerms to add to therapeutics for linking via \"is treated with\" obj property: Local heat, acupuncture, physical therapy, surgery" xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0011868 xsd:string property_value: SCDO:0000661 "Compression of a spinal nerve root by disc or arthritic spur, degenerative changes involvind main structures, disc protrusion, congenital abnormalities of the bony spinal column, infection, inflammation, neoplasm, vascular diseases." xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001024 xsd:string [Term] id: HP:0011873 name: Abnormal Platelet Count def: "Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood." [] xref: HP:0011873 is_a: HP:0001872 ! Abnormal Thrombocyte Morphology property_value: SCDO:0000340 HP:0011873 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000617 xsd:string [Term] id: HP:0011886 name: Hyphema def: "Bleeding in the anterior chamber of the eye." [] xref: HP:0011886 is_a: HP:0000478 ! Abnormality of the Eye is_a: HP:0011025 ! Abnormal Cardiovascular System Physiology is_a: NCIT:C115319 ! Ophthalmologic Complication relationship: SCDO:0000663 NCIT:C18772 ! diagnosed using tool Personal Medical History relationship: SCDO:0000663 SCDO:0000898 ! diagnosed using tool Physical Examination relationship: SCDO:0000664 SCDO:1000017 ! treated with Surgery relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0011886 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000597 xsd:string [Term] id: HP:0011893 name: Abnormal Leukocyte Count def: "Number of leukocytes per volume of blood beyond normal limits." [] synonym: "Abnormal White Blood Cell Count" EXACT [] xref: HP:0011893 is_a: SCDO:1000612 ! Abnormal Leukocyte Morphology property_value: SCDO:0000340 HP:0011893 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000613 xsd:string [Term] id: HP:0011897 name: Neutrophilia def: "Increased number of neutrophils circulating in blood." [] xref: HP:0011897 is_a: HP:0011991 ! Abnormal Neutrophil Count property_value: SCDO:0000340 https://hpo.jax.org/app/browse/term/HP:0011897 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000447 xsd:string [Term] id: HP:0011904 name: Increased Hemoglobin F def: "Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobiin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent." [] synonym: "Increased Haemoglobin F" EXACT [] synonym: "Persistence of Hemoglobin F" EXACT [] synonym: "Raised Hemoglobin F" EXACT [] xref: HP:0011904 is_a: HP:0020063 ! Increased Hemoglobin Concentration is_a: SCDO:1000061 ! Altered Level of Normal Hemoglobin in SCD relationship: SCDO:1000015 SCDO:0000251 ! modifies Clinical Phenotype of Beta Thalassemia relationship: SCDO:1000015 SCDO:0000895 ! modifies Phenotype of Sickle Cell Disease property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0011904 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000888 xsd:string [Term] id: HP:0011906 name: Reduced Beta/Alpha Synthesis Ratio def: "A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia." [] synonym: "Increased Alpha/Beta Synthesis Ratio" EXACT [] xref: HP:0011906 is_a: HP:0005560 ! Imbalanced Hemoglobin Synthesis relationship: SCDO:1000210 SCDO:0009731 ! has causal or contributing genetic variation Beta Thalassemia Mutation property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0011906 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001709 xsd:string [Term] id: HP:0011907 name: Reduced Alpha/Beta Synthesis Ratio def: "A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia." [] synonym: "Increased Beta/Alpha Synthesis Ratio" EXACT [] xref: HP:0011907 is_a: HP:0005560 ! Imbalanced Hemoglobin Synthesis relationship: SCDO:1000210 SCDO:0001386 ! has causal or contributing genetic variation Alpha-Globin Locus Deletion property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0011907 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0006404 xsd:string [Term] id: HP:0011950 name: Bronchiolitis def: "Inflammation of the bronchioles." [] xref: HP:0011950 is_a: HP:0002086 ! Abnormality of the Respiratory System relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0011950 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0005490 xsd:string [Term] id: HP:0011991 name: Abnormal Neutrophil Count def: "A deviation from the normal range of neutrophil cell counts in the circulation." [] synonym: "Abnormal Neutrophil Cell Number" EXACT [] xref: HP:0011991 is_a: HP:0001874 ! Abnormality of Neutrophils is_a: HP:0002715 ! Abnormality of the Immune System property_value: SCDO:0000340 https://hpo.jax.org/app/browse/term/HP:0011991 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000446 xsd:string [Term] id: HP:0012100 name: Abnormal Circulating Creatinine Level def: "An abnormal concentration of creatinine in the blood." [] synonym: "Abnormal Blood Creatinine Level" EXACT [] synonym: "Abnormal Serum Creatinine Level" EXACT [] synonym: "Creatinine Levels Abnormal" EXACT [] xref: HP:0012100 is_a: HP:0004364 ! Abnormal Circulating Nitrogen Compound Concentration property_value: SCDO:0000340 HP:0012100 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000541 xsd:string [Term] id: HP:0012101 name: Decreased Serum Creatinine def: "An abnormally reduced amount of creatinine in the blood." [] synonym: "Low Blood Creatinine" EXACT [] synonym: "Low Serum Creatinine" EXACT [] synonym: "Reduced Creatinine Levels" EXACT [] xref: HP:0012101 is_a: HP:0012100 ! Abnormal Circulating Creatinine Level property_value: SCDO:0000340 HP:0012101 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000648 xsd:string [Term] id: HP:0012203 name: Onychomycosis def: "A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split." [] comment: has disease stage: Distal lateral subungual onychomycosis (DLSO), White superficial onychomycosis (WSO), Proximal subungual onychomycosis (PSO), Endonyx onychomycosis (EO), Candidal onychomycosis.\n\nIs characterised by: Disfigured nails, pain, paraesthesia, loss of dexterity, difficulty walking, standing, exercise. xref: HP:0012203 is_a: NCIT:C3245 ! Fungal Infection relationship: SCDO:0000664 IDO:0000560 ! treated with Antifungal relationship: SCDO:0000664 SCDO:1000017 ! treated with Surgery property_value: http://purl.org/dc/elements/1.1/source "Medscape: Onychomycosis: Author: Antonella Tosti, MD; Chief Editor: Dirk M Elston, MD et al.." xsd:string property_value: SCDO:0000340 HP:0012203 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000831 xsd:string [Term] id: HP:0012229 name: Cerebrospinal Fluid Pleocytosis def: "An increased white blood cell count in the cerebrospinal fluid." [] synonym: "CSF Pleocytosis" EXACT [] synonym: "Increased Leukocyte Count in CSF" EXACT [] xref: HP:0012229 is_a: HP:0002060 ! Abnormality of the Cerebrum property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0012229 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000212 xsd:string [Term] id: HP:0012243 name: Abnormal Reproductive System Morphology def: "A structural or developmental anomaly of any of the tissues involved in the genital system." [] synonym: "Abnormal Genital System Morphology" EXACT [] xref: HP:0012243 is_a: HP:0000078 ! Abnormality of the Genital System property_value: SCDO:0000340 HP:0012243 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0009817 xsd:string [Term] id: HP:0012282 name: Morbilliform Rash def: "An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days." [] comment: A morbilliform rash is said to resemble the rash of measles, rubella or scarlet fever, thus mimicking viral and bacterial exanthemas. xref: HP:0012282 is_a: HP:0011122 ! Abnormality of Skin Physiology relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors property_value: SCDO:0000340 HP:0012282 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000770 xsd:string [Term] id: HP:0012330 name: Pyelonephritis def: "An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices." [] xref: HP:0012330 is_a: HP:0000123 ! Nephritis relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0012330 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0005758 xsd:string [Term] id: HP:0012379 name: Abnormal Enzyme/Coenzyme Activity def: "An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme." [] xref: HP:0012379 is_a: SCDO:0002674 ! Abnormality of Metabolism/Homeostasis property_value: SCDO:0000340 HP:0012379 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000665 xsd:string [Term] id: HP:0012418 name: Hypoxemia def: "An abnormally low level of blood oxygen." [] synonym: "Decreased Partial Pressure of Oxygen" EXACT [] synonym: "Low Blood Oxygen Level" EXACT [] xref: HP:0012418 is_a: MP:0002329 ! Abnormal Blood Gas Level relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0012418 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000604 xsd:string [Term] id: HP:0012444 name: Atrophic Brain def: "Partial or complete wasting (loss) of brain tissue that was once present." [] synonym: "Brain Atrophy" EXACT [] synonym: "Brain Degeneration" EXACT [] synonym: "Brain Wasting" EXACT [] xref: HP:0012444 is_a: HP:0012639 ! Abnormal Nervous System Morphology property_value: SCDO:0000340 HP:0012444 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000089 xsd:string [Term] id: HP:0012465 name: Elevated Hepatic Iron Concentration def: "An increased level of iron in liver tissues." [] comment: This abnormality can be measured by liver biopsy or by hepatic magnetic resonance imaging.\nEquivalents synonym: "Increased Iron Concentration in Liver" EXACT [] synonym: "Increased Liver Iron Level" EXACT [] xref: HP:0012465 is_a: HP:0001392 ! Abnormality of the Liver is_a: NCIT:C115224 ! Hepatic Complication property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0012465 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000425 xsd:string [Term] id: HP:0012532 name: Chronic Pain def: "Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months." [] synonym: "Long-Lasting Pain" EXACT [] xref: HP:0012532 is_a: SCDO:0000851 ! Pain is_a: SCDO:0001334 ! Chronic Phenotype relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 HP:0012532 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001415 xsd:string [Term] id: HP:0012574 name: Mesangial Hypercellularity def: "Increased numbers of mesangial cells per glomerulus, defined as four or more nuclei in a peripheral mesangial segment." [] synonym: "Mesangial Proliferation" EXACT [] xref: HP:0012574 is_a: HP:0000077 ! Abnormality of the Kidney property_value: SCDO:0000340 HP:0012574 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0006481 xsd:string [Term] id: HP:0012587 name: Macroscopic Hematuria def: "Hematuria that is visible upon inspection of the urine." [] synonym: "Bloody Urine" EXACT [] synonym: "Gross Hematuria" EXACT [] xref: HP:0012587 is_a: SCDO:0000508 ! Hematuria relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0012587 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0008145 xsd:string [Term] id: HP:0012594 name: Low Level Albuminuria def: "The presence of mildly increased concentrations of albumin in the urine (in adults, 30-150 mg per day)." [] comment: The criteria for clinically significant proteinuria have been changed from an albumin-creatinine ratio (ACR) of 30 mg/mmol or more to 3 mg/mmol or more. This is because there is evidence that the risk of adverse outcomes is a continuum and starts at an ACR well below 30 mg/mmol. synonym: "Micro-albuminuria" EXACT [] synonym: "Microalbuminuria" EXACT [] synonym: "Mildly Increased Albuminuria" EXACT [] synonym: "Moderately Increased Albuminuria" EXACT [] xref: HP:0012594 is_a: SCDO:0000037 ! Albuminuria relationship: SCDO:1000220 SCDO:0001209 ! diagnosed using measurement Urine Albumin Concentration relationship: SCDO:1000220 SCDO:0001210 ! diagnosed using measurement Urine Albumin Excretion Rate relationship: SCDO:1000220 SCDO:0001212 ! diagnosed using measurement Urine Albumin-Creatinine Ratio property_value: http://purl.org/dc/elements/1.1/source "Chronic kidney disease: early identification and management of chronic kidney disease in adults in primary and secondary care; NICE Clinical Guidelines (July 2014)" xsd:string property_value: SCDO:0000340 HP:0012594 property_value: SCDO:0000340 http://patient.info/doctor/microalbuminuria xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/141501 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000764 xsd:string [Term] id: HP:0012638 name: Abnormal Nervous System Physiology def: "A functional anomaly of the nervous system." [] synonym: "Abnormality of Nervous System Physiology" EXACT [] xref: HP:0012638 is_a: HP:0000707 ! Abnormality of the Nervous System property_value: SCDO:0000340 HP:0012638 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000765 xsd:string [Term] id: HP:0012639 name: Abnormal Nervous System Morphology def: "A structural anomaly of the nervous system." [] synonym: "Abnormal Shape of Nervous System" EXACT [] synonym: "Abnormality of Nervous System Morphology" EXACT [] xref: HP:0012639 is_a: HP:0000707 ! Abnormality of the Nervous System property_value: SCDO:0000340 HP:0012639 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000764 xsd:string [Term] id: HP:0012735 name: Cough def: "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation." [] xref: HP:0012735 is_a: HP:0002086 ! Abnormality of the Respiratory System property_value: SCDO:0000340 HP:0012735 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0004069 xsd:string [Term] id: HP:0012759 name: Neurodevelopmental Abnormality def: "A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. This term should be used to describe abnormalities with onset in the developmental period." [] xref: HP:0012759 is_a: HP:0012638 ! Abnormal Nervous System Physiology property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0012759 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000800 xsd:string [Term] id: HP:0012819 name: Myocarditis def: "Inflammation of the myocardium." [] comment: Myocarditis can be caused by a variety of bacterial and viral infections. Enteroviruses, especially coxsackievirus B, are often associated with acute myocarditis. However, with the advent of genetic analysis, adenovirus and parvovirus B19 have also been found to be frequent causes of myocarditis. Exposure to drug treatment, physical stimuli such as radiation and heat, metabolic disorders, immune disorders, and pregnancy are also causes of myocarditis. Many cases of myocarditis are idiopathic. Myocarditis presents with non-specific symptoms including chest pain, dyspnoea, and palpitations, and thus often mimics more common disorders such as coronary artery disease. In some patients, cardiac MRI and endomyocardial biopsy can help identify myocarditis, predict risk of cardiovascular events, and guide treatment. xref: HP:0012819 is_a: HP:0030680 ! Abnormal Cardiovascular System Morphology property_value: http://purl.org/dc/elements/1.1/source HP:0012819 property_value: SCDO:0000340 HP:0012819 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0004203 xsd:string [Term] id: HP:0020054 name: Abnormal Erythrocyte Physiology def: "Any functional abnormality of erythrocytes (red-blood cells)." [] xref: HP:0020054 is_a: HP:0001871 ! Abnormality of Blood and Blood-Forming Tissues property_value: SCDO:0000340 HP:0020054 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000286 xsd:string [Term] id: HP:0020058 name: Abnormal Red Blood Cell Count def: "Any deviation from the normal number of red blood cells per volume in the circulation." [] synonym: "Abnormal RBC Count" EXACT [] xref: HP:0020058 is_a: HP:0001877 ! Abnormal Erythrocyte Morphology property_value: SCDO:0000340 HP:0020058 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000608 xsd:string [Term] id: HP:0020059 name: Increased Red Blood Cell Count def: "An abnormal elevation above the normal number of red blood cells per volume in the circulation." [] synonym: "Increased RBC Count" EXACT [] xref: HP:0020059 is_a: HP:0020058 ! Abnormal Red Blood Cell Count property_value: SCDO:0000340 HP:0020059 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000610 xsd:string [Term] id: HP:0020060 name: Decreased Red Blood Cell Count def: "An abnormal reduction below the normal number of red blood cells per volume in the circulation." [] synonym: "Decreased RBC Count" EXACT [] xref: HP:0020060 is_a: HP:0020058 ! Abnormal Red Blood Cell Count property_value: SCDO:0000340 HP:0020060 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000609 xsd:string [Term] id: HP:0020061 name: Abnormal Hemoglobin Concentration def: "Any deviation from the normal concentration of hemoglobin in the blood." [] xref: HP:0020061 is_a: HP:0001877 ! Abnormal Erythrocyte Morphology is_a: SCDO:0009613 ! Protein Phenotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "It might seem wrong to place this class here, but note that a change in hemoglobin concentration affects the size/volume and hence morphology of erythrocytes.\n\nPerhaps add sub-classes \"Increased hemoglobin concentration\" and \"Decreased hemoglobin concentration\" from HPO...their descriptions don't seem quite right though (should it not rather be \"in the erythrocytes\", not \"in the circulation\"?" xsd:string property_value: SCDO:0000340 HP:0020061 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000186 xsd:string [Term] id: HP:0020062 name: Decreased Hemoglobin Concentration def: "An abnormal reduction below normal hemoglobin concentration in the circulation." [] xref: HP:0020062 is_a: HP:0020061 ! Abnormal Hemoglobin Concentration property_value: SCDO:0000340 HP:0020062 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000377 xsd:string [Term] id: HP:0020063 name: Increased Hemoglobin Concentration def: "An abnormal elevation above normal hemoglobin concentration in the circulation." [] xref: HP:0020063 is_a: HP:0020061 ! Abnormal Hemoglobin Concentration property_value: SCDO:0000340 HP:0020063 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000378 xsd:string [Term] id: HP:0025031 name: Abnormality of the Digestive System def: "Any anomaly of the digestive system, a collection of organs that is made up of the gastrointestinal tract and the liver, pancreas, and gallbladder. The gastrointestinal tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus, including the mouth, esophagus, stomach, small intestine, large intestine and anus." [] xref: HP:0025031 is_a: HP:0000118 ! Abnormal Phenotype property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0025031 xsd:string property_value: SCDO:0000340 "Kaeda JS, Roper D, Srivastava P, et al. Severe hemolytic anemia associated with the homozygous state for an unstable hemoglobin variant (Hb Bushwick). Blood 1995; 86:1977." xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000335 xsd:string [Term] id: HP:0025065 name: Abnormal Mean Corpuscular Volume def: "A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters." [] synonym: "Abnormal Erythrocyte Volume" EXACT [] synonym: "Abnormal MCV" EXACT [] xref: HP:0025065 is_a: HP:0001877 ! Abnormal Erythrocyte Morphology property_value: SCDO:0000340 HP:0025065 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000624 xsd:string [Term] id: HP:0025066 name: Decreased Mean Corpuscular Volume def: "A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters)." [] synonym: "Decreased MCV" EXACT [] synonym: "Low MCV" EXACT [] synonym: "Microcytosis" EXACT [] synonym: "Reduced Erythrocyte Volume" EXACT [] xref: HP:0025066 is_a: HP:0025065 ! Abnormal Mean Corpuscular Volume property_value: SCDO:0000340 HP:0025066 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000625 xsd:string [Term] id: HP:0025142 name: Constitutional Symptom def: "A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual." [] synonym: "Systemic Symptom" EXACT [] xref: HP:0025142 is_a: HP:0000118 ! Abnormal Phenotype property_value: SCDO:0000340 HP:0025142 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000269 xsd:string [Term] id: HP:0025435 name: Increased Lactate Dehydrogenase Level def: "An elevated level of the enzyme lactate dehydrogenase in serum." [] synonym: "High Lactate Dehydrogenase Level" EXACT [] xref: HP:0025435 is_a: HP:0045040 ! Abnormal Lactate Dehydrogenase Level property_value: SCDO:0000340 HP:0025435 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000652 xsd:string [Term] id: HP:0025546 name: Abnormal Mean Corpuscular Hemoglobin Concentration def: "Deviation from the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices." [] synonym: "Abnormal MCHC" EXACT [] synonym: "Abnormal Mean Cell Haemoglobin Concentration" EXACT [] synonym: "Abnormal Mean Cell Hb Concentration" EXACT [] synonym: "Abnormal Mean Cell Hemoglobin Concentration" EXACT [] synonym: "Abnormal Mean Corpuscular Haemoglobin Concentration" EXACT [] synonym: "Abnormal Mean Corpuscular Hb Concentration" EXACT [] xref: HP:0025546 is_a: HP:0001877 ! Abnormal Erythrocyte Morphology property_value: SCDO:0000340 MP:0005640 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000631 xsd:string [Term] id: HP:0025547 name: Decreased Mean Corpuscular Hemoglobin Concentration def: "Less than the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices." [] synonym: "Decreased MCHC" EXACT [] synonym: "Decreased Mean Corpuscular Haemoglobin Concentration" EXACT [] synonym: "Low MCHC" EXACT [] synonym: "Low Mean Corpuscular Haemoglobin Concentration" EXACT [] synonym: "Low Mean Corpuscular Hemoglobin Concentration" EXACT [] synonym: "Reduced Mean Corpuscular Haemoglobin Concentration" EXACT [] synonym: "Reduced Mean Corpuscular Hemoglobin Concentration" EXACT [] xref: HP:0025547 is_a: HP:0025546 ! Abnormal Mean Corpuscular Hemoglobin Concentration property_value: SCDO:0000340 MP:0005642 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000635 xsd:string [Term] id: HP:0025548 name: Increased Mean Corpuscular Hemoglobin Concentration def: "Greater than the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices." [] synonym: "High MCHC" EXACT [] synonym: "High Mean Corpuscular Haemoglobin Concentration" EXACT [] synonym: "High Mean Corpuscular Hemoglobin Concentration" EXACT [] synonym: "Increased MCHC" EXACT [] synonym: "Increased Mean Corpuscular Haemoglobin Concentration" EXACT [] xref: HP:0025548 is_a: HP:0025546 ! Abnormal Mean Corpuscular Hemoglobin Concentration property_value: SCDO:0000340 MP:0005641 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000636 xsd:string [Term] id: HP:0025636 name: Endometritis def: "Inflammation of the inner lining of the uterus" [] def: "Local accumulation of fluid, plasma proteins, and leukocytes in the endometrium." [] synonym: "Endometrial Inflammation" EXACT [] synonym: "Endometrium Inflammation" EXACT [] xref: HP:0025636 is_a: HP:0000078 ! Abnormality of the Genital System property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/MP_0009360 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000433 xsd:string [Term] id: HP:0030049 name: Brain Abscess def: "A collection of pus, immune cells, and other material in the brain." [] comment: Brain abscess usually results from a bacterial or fungal infection. xref: HP:0030049 is_a: HP:0002715 ! Abnormality of the Immune System is_a: HP:0012639 ! Abnormal Nervous System Morphology relationship: SCDO:0000663 CMO:0000364 ! diagnosed using tool Complete Blood Count relationship: SCDO:0000663 NCIT:C16809 ! diagnosed using tool Magnetic Resonance Imaging relationship: SCDO:0000663 SCDO:0000139 ! diagnosed using tool Blood Culture relationship: SCDO:0000663 SCDO:0000217 ! diagnosed using tool Chest X-Ray relationship: SCDO:0000663 SCDO:0000420 ! diagnosed using tool Electroencephalography relationship: SCDO:0000663 SCDO:0000963 ! diagnosed using tool Radiography relationship: SCDO:0000664 IDO:0000560 ! treated with Antifungal relationship: SCDO:0000664 NCIT:C258 ! treated with Antibiotic relationship: SCDO:0000664 SCDO:1000017 ! treated with Surgery property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0030049 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000159 xsd:string [Term] id: HP:0030050 name: Narcolepsy def: "An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis." [] xref: HP:0030050 is_a: HP:0000708 ! Behavioural Abnormality relationship: SCDO:0000663 OGMS:0000088 ! diagnosed using tool Patient Symptom Report relationship: SCDO:0000663 SCDO:0000898 ! diagnosed using tool Physical Examination property_value: SCDO:0000303 HP:0030050 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000790 xsd:string [Term] id: HP:0030058 name: Sickled Erythrocyte def: "An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains)." [] synonym: "Banana Cell" EXACT [] synonym: "Drepanocyte" EXACT [] synonym: "Sickle Cell" EXACT [] synonym: "Sickled Erythrocyte" EXACT [] synonym: "Sickled Red Blood Cell" EXACT [] xref: HP:0030058 is_a: HP:0004447 ! Poikilocytosis property_value: SCDO:0000340 HP:0030058 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000246 xsd:string [Term] id: HP:0030127 name: Endometriosis def: "The growth of endometrial tissue outside the uterus." [] xref: HP:0030127 is_a: HP:0012243 ! Abnormal Reproductive System Morphology relationship: SCDO:0000664 NCIT:C258 ! treated with Antibiotic relationship: SCDO:0000664 SCDO:0000050 ! treated with Analgesic relationship: SCDO:0000664 SCDO:1000017 ! treated with Surgery property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0030127 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000432 xsd:string [Term] id: HP:0030243 name: Hepatic Vein Thrombosis def: "An obstruction in the veins of the liver caused by a blood clot (thrombosis)." [] synonym: "Blood Clot in Liver Vein" EXACT SCDO:1000291 [] xref: HP:0030243 is_a: HP:0001977 ! Abnormal Thrombosis relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0030243 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001673 xsd:string [Term] id: HP:0030248 name: Mesenteric Venous Thrombosis def: "A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine)." [] synonym: "Blood Clot in Mesenteric Vein" EXACT [] xref: HP:0030248 is_a: HP:0001977 ! Abnormal Thrombosis property_value: SCDO:0000340 HP:0030248 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0004437 xsd:string [Term] id: HP:0030680 name: Abnormal Cardiovascular System Morphology def: "Any structural anomaly of the heart and great vessels." [] xref: HP:0030680 is_a: HP:0001626 ! Abnormality of Cardiovascular System property_value: SCDO:0000340 HP:0030680 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000369 xsd:string [Term] id: HP:0031368 name: Intestinal Perforation def: "A hole (perforation) in the wall of the intestine." [] xref: HP:0031368 is_a: SCDO:1000433 ! Intestinal Injury property_value: SCDO:0000340 https://hpo.jax.org/app/browse/term/HP:0031368 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000434 xsd:string [Term] id: HP:0031456 name: Ectopic Pregnancy def: "A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube)." [] xref: HP:0031456 is_a: NCIT:C34941 ! Pregnancy Complication is_a: SCDO:1000371 ! Prenatal Maternal Abnormality property_value: SCDO:0000340 HP:0031456 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000413 xsd:string [Term] id: HP:0031956 name: Elevated Serum Aspartate Aminotransferase def: "An abnormally high concentration in the circulation of aspartate aminotransferase (AST)." [] synonym: "Aspartate Aminotransferase Increased" EXACT [] synonym: "Elevated Serum AST" EXACT [] synonym: "Elevated Serum Glutamic Oxaloacetic Transaminase" EXACT [] synonym: "Increased Aspartate Aminotransferase" EXACT [] xref: HP:0031956 is_a: HP:0012379 ! Abnormal Enzyme/Coenzyme Activity property_value: SCDO:0000340 HP:0031956 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000661 xsd:string [Term] id: HP:0031964 name: Elevated Serum Alanine Aminotransferase def: "An abnormally high concentration in the circulation of alanine aminotransferase (ALT), which is an enzyme that catalyzes the transfer of amino groups to form the hepatic metabolite oxaloacetate. ALT is found abundantly in the cytosol of the hepatocyte. ALT activity in the liver is about 3000 times that of serum activity. Thus, in the case of hepatocellular injury or death, release of ALT from damaged liver cells increases measured ALT activity in the serum. Although it is generally thought to be specific to the liver, it is also found in the kidney, and, in much smaller quantities, in heart and skeletal muscle cells." [] synonym: "Alanine Aminotransferase Increased" EXACT [] synonym: "Elevated serum ALT" EXACT [] synonym: "Elevated Serum Glutamic-Pyruvic Transaminase" EXACT [] xref: HP:0031964 is_a: HP:0012379 ! Abnormal Enzyme/Coenzyme Activity property_value: SCDO:0000340 HP:0031964 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000659 xsd:string [Term] id: HP:0032180 name: Abnormal Circulating Metabolite Concentration def: "An abnormal level of an analyte measured in the blood." [] xref: HP:0032180 is_a: MP:0009642 ! Abnormal Blood Homeostasis property_value: SCDO:0000340 https://hpo.jax.org/app/browse/term/HP:0032180 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000437 xsd:string [Term] id: HP:0032224 name: ABO Blood Group def: "The ABO histo-blood group consists of two antigens (A and B antigens) and four blood types (types A, B, AB, and O). The A and B antigens are the product of the ABO gene and are autosomal codominant. The group O phenotype is an autosomal-recessive phenotype due to the homozygous inheritance of two null ABO alleles. Group O individuals express the H antigen, the biosynthetic precursor to A and B antigens. ABO, therefore, is the blood type, whereas A, B, and H refer to the antigens. The ABO system consists of A and B antigens and antibodies against these antigens." [] xref: HP:0032224 is_a: SCDO:0009884 ! Biochemical Phenotype property_value: SCDO:0000340 HP:0032224 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000581 xsd:string [Term] id: HP:0045040 name: Abnormal Lactate Dehydrogenase Level def: "A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate." [] xref: HP:0045040 is_a: HP:0012379 ! Abnormal Enzyme/Coenzyme Activity property_value: SCDO:0000340 HP:0045040 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000683 xsd:string [Term] id: HP:0045048 name: Increased Hemoglobin A2 def: "An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia." [] synonym: "Increased HbA2 Hemoglobin" EXACT [] xref: HP:0045048 is_a: HP:0020063 ! Increased Hemoglobin Concentration is_a: SCDO:1000061 ! Altered Level of Normal Hemoglobin in SCD property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0045048 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000630 xsd:string [Term] id: HP:0100601 name: Eclampsia def: "An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders." [] xref: HP:0100601 is_a: NCIT:C34941 ! Pregnancy Complication is_a: SCDO:1000371 ! Prenatal Maternal Abnormality relationship: SCDO:0000664 SCDO:0000067 ! treated with Antihypertensive Agents relationship: SCDO:1000220 CMO:0000256 ! diagnosed using measurement Urine Measurement relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: SCDO:0000340 HP:0100601 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000411 xsd:string [Term] id: HP:0100602 name: Preeclampsia def: "Pregnancy-induced hypertension in association with significant amounts of protein in the urine." [] synonym: "Pre-Eclampsia" EXACT [] xref: HP:0100602 is_a: NCIT:C34941 ! Pregnancy Complication is_a: SCDO:0000267 ! Comorbid Disease is_a: SCDO:1000371 ! Prenatal Maternal Abnormality relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0100602 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000918 xsd:string [Term] id: HP:0100614 name: Myositis def: "A general term for inflammation of the muscles without respect to the underlying cause." [] synonym: "Muscle Inflammation" EXACT [] xref: HP:0100614 is_a: HP:0002715 ! Abnormality of the Immune System is_a: SCDO:1000268 ! Abnormality of the Musculature relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0100614 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000785 xsd:string [Term] id: HP:0100749 name: Chest Pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest." [] synonym: "Thoracic Pain" EXACT [] xref: HP:0100749 is_a: SCDO:0000851 ! Pain property_value: SCDO:0000340 HP:0100749 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001988 xsd:string [Term] id: HP:0100774 name: Hyperostosis def: "Excessive growth or abnormal thickening of bone tissue." [] synonym: "Bone Hypertrophy" EXACT [] synonym: "Bone Overgrowth" EXACT [] xref: HP:0100774 is_a: HP:0000924 ! Abnormality of the Skeletal System relationship: SCDO:0000664 SCDO:0000050 ! treated with Analgesic relationship: SCDO:0000664 SCDO:0000057 ! treated with Anti-Inflammatory Agent relationship: SCDO:0000664 SCDO:0000903 ! treated with Physiotherapy relationship: SCDO:0000664 SCDO:1000017 ! treated with Surgery property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0100774 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000591 xsd:string [Term] id: HP:0100806 name: Sepsis def: "Severe systemic inflammatory response to infection." [] comment: caused by: Bacteria and fungus mainly\n\ncharacterised by: Systematic manifestations of inflammation\n\nhas disease stage: Mild, moderate, severe xref: HP:0100806 is_a: HP:0002715 ! Abnormality of the Immune System is_a: IDO:0000586 ! Infection relationship: SCDO:0000663 SCDO:0000139 ! diagnosed using tool Blood Culture relationship: SCDO:0000664 IDO:0000560 ! treated with Antifungal relationship: SCDO:0000664 NCIT:C258 ! treated with Antibiotic relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000303 "Perhaps remove here and only keep below \"Abnormality of the Immune System\"?\nSource needed for additional information.\nPerhaps include different types of sepsis (see under D018805 in MESH)?" xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0100806 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001039 xsd:string [Term] id: HP:0100820 name: Glomerulopathy def: "Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron." [] synonym: "Diseased Glomeruli" EXACT [] synonym: "Glomerulopathies" EXACT [] xref: HP:0100820 is_a: HP:0000077 ! Abnormality of the Kidney relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0100820 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000459 xsd:string [Term] id: HP:0200042 name: Skin Ulcer def: "A discontinuity of the skin exhibiting loss of the epidermis and often portions of the dermis and subcutaneous fat." [] synonym: "Open Skin Sore" EXACT [] synonym: "Skin Ulcers" EXACT [] xref: HP:0200042 is_a: HP:0011121 ! Abnormality of Skin Morphology is_a: SCDO:0000954 ! Quality of Life Related SCD Symptoms and Complications relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada property_value: SCDO:0000303 "Find source for additional info" xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0200042 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001074 xsd:string [Term] id: HP:0500015 name: Abnormal Cardiac Test def: "Abnormal test result of cardiovascular physiology." [] xref: HP:0500015 is_a: HP:0001626 ! Abnormality of Cardiovascular System property_value: SCDO:0000340 HP:0500015 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000266 xsd:string [Term] id: HsapDv:0000000 name: Human Life Cycle Stage def: "A spatiotemporal region encompassing some part of the life cycle of an organism." [] synonym: "Developmental Stage" EXACT [] xref: HsapDv:0000000 is_a: NCIT:C43646 ! Association property_value: SCDO:0000303 "See specific stages in the \"Human Developmental Stages Ontology\"" xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HsapDv_0000000 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0007384 xsd:string [Term] id: ICO:0000036 name: Date of Signing Consent def: "A date specification that designates when an informed consent form was signed." [] synonym: "Date Subject Signed Consent" EXACT [] synonym: "Informed Consent Form Signing Date" EXACT [] xref: ICO:0000036 is_a: SCDO:1000522 ! Temporal Observable of Consent property_value: SCDO:0000340 ICO:0000036 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000531 xsd:string [Term] id: ICO:0000157 name: Parental Consent def: "An informed consent by the parent/guardian of a child or a minor to consent to give permission for the child/minor to be included in research." [] synonym: "Parental Informed Consent Process" EXACT [] synonym: "Parental Permission" EXACT [] synonym: "Parental Permission Consent" EXACT [] xref: ICO:0000157 is_a: SCDO:0003712 ! Proxy Consent is_a: SCDO:0007087 ! Informed Consent property_value: SCDO:0000340 ICO?p=classes&conceptid=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FICO:0000157 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0009293 xsd:string [Term] id: ICO:0000179 name: Broad Consent def: "An informed consent for an unspecified range of future research subject to a few content and/or process restrictions." [] xref: ICO:0000179 is_a: SCDO:0007087 ! Informed Consent property_value: SCDO:0000340 ICO:0000179 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0008115 xsd:string [Term] id: ICO:0000228 name: Data Sharing def: "A planned process in which data possessed by one person or organization is shared with one or more other persons or organizations." [] synonym: "Act of Data Sharing" EXACT [] xref: ICO:0000228 is_a: SCDO:0006339 ! Research property_value: SCDO:0000340 ICO:0000228 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0009586 xsd:string [Term] id: ICO:0000255 name: Participant Withdrawal Process def: "A directive information entity that prescribes some process for withdraw from another planned process." [] synonym: "Withdrawal from Participation Directive" EXACT [] xref: ICO:0000255 is_a: SCDO:1000422 ! Basic Element of a Consent Form property_value: SCDO:0000340 ICO:0000255 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000428 xsd:string [Term] id: ICO:0000278 name: Description of Future Biospecimen Use def: "A descriptive information content entity that describes how biospecimens will be used." [] xref: ICO:0000278 is_a: ICO:0000305 ! Description of Future Use property_value: SCDO:0000340 ICO:0000278 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000456 xsd:string [Term] id: ICO:0000293 name: Data Sharing Agreement def: "A directive information entity that prescribes the information that is permitted to be shared or the processes for sharing that information." [] synonym: "Data Sharing Directive" EXACT [] xref: ICO:0000293 is_a: SCDO:1000406 ! Data Sharing Descriptor property_value: SCDO:0000340 ICO:0000293 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000407 xsd:string [Term] id: ICO:0000304 name: Description of Future Data Use def: "A descriptive information content entity that describes how data will be used." [] xref: ICO:0000304 is_a: ICO:0000305 ! Description of Future Use property_value: SCDO:0000340 ICO:0000304 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000453 xsd:string [Term] id: ICO:0000305 name: Description of Future Use def: "A descriptive information content entity that describes future use of material or information." [] xref: ICO:0000305 is_a: SCDO:1000422 ! Basic Element of a Consent Form property_value: SCDO:0000340 ICO:0000305 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000454 xsd:string [Term] id: IDO:0000515 name: Microbiome def: "An organism population whose members are particpating in non-parasitic symbiosis with a particular host." [] synonym: "Normal Resident Microbiota Population" EXACT [] synonym: "Normal Resident Microflora Population" EXACT [] xref: IDO:0000515 is_a: SCDO:0000122 ! Biological Disease Modifier property_value: SCDO:0000340 http://purl.obolibrary.org/obo/IDO_0000515 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000755 xsd:string [Term] id: IDO:0000560 name: Antifungal def: "A material entity bearing an antifungal disposition." [] xref: IDO:0000560 is_a: CHEBI:23888 ! Drug is_a: SCDO:0001133 ! Symptomatic Therapeutics relationship: SCDO:1000018 HP:0000388 ! treats Otitis Media relationship: SCDO:1000018 HP:0006689 ! treats Bacterial Endocarditis relationship: SCDO:1000018 HP:0008404 ! treats Nail Dystrophy relationship: SCDO:1000018 HP:0012203 ! treats Onychomycosis relationship: SCDO:1000018 HP:0030049 ! treats Brain Abscess relationship: SCDO:1000018 HP:0100806 ! treats Sepsis property_value: SCDO:0000340 http://purl.obolibrary.org/obo/IDO_0000560 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000019 xsd:string [Term] id: IDO:0000586 name: Infection def: "A part of an extended organism that itself has as part a population of one or more infectious agents and that (1) exists as a result of processes initiated by members of the infectious agent population and is (2) clinically abnormal in virtue of the presence of this infectious agent population, or (3) has a disposition to bring clinical abnormality to immunocompetent organisms of the same Species as the host (the organism corresponding to the extended organism) through transmission of a member or offspring of a member of the infectious agent population." [] xref: IDO:0000586 is_a: DOID:4 ! Disease relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000303 "Perhaps use Bacterial Infection and Viral Infection as modifiers?\n\nInclude here \"transfusion-related hepatitis infections\" and or \"viral hepatitis\" (See paper \"Liver involvement in sickle cell disease\" by Emel GÜRKAN et al.)" xsd:string property_value: SCDO:0000340 IDO:0000586 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000635 xsd:string [Term] id: IDOMAL:0000122 name: Malaria Chemoprophylaxis def: "The use of antimalarial drugs for the prevention of infection." [] xref: IDOMAL:0000122 is_a: SCDO:0000709 ! Malaria Prophylaxis property_value: SCDO:0000340 IDOMAL:0000122 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000668 xsd:string [Term] id: IDOMAL:0000592 name: Spleen Examination def: "Any process carried out to determine the condition of a patient's spleen." [] xref: IDOMAL:0000592 is_a: SCDO:0000898 ! Physical Examination property_value: SCDO:0000303 "Needs relating to Splenomegaly phenotype." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/IDOMAL_0000592 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001101 xsd:string [Term] id: IDOMAL:50000026 name: Mutation def: "A permanent change in the DNA sequence of a gene that alters the genetic message carried by that gene." [] xref: IDOMAL:50000026 is_a: SCDO:0001369 ! Genetic Variation relationship: SCDO:1000015 NCIT:C26548 ! modifies Gene Product property_value: SCDO:0000303 "Perhaps include here an \"Alpha Thalassemia Mutation\" sub-class? Could use the current description for \"Alpha-Globin Locus Deletion\" and instead give \"Alpha-Globin Locus Deletion\" a description similar to that of \"Beta-Globin Locus Deletion\"" xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/IDOMAL_50000026 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001370 xsd:string [Term] id: MP:0001212 name: Skin Lesions def: "Focal pathological and/or inflammatory changes characterized by alteration in the size, shape and organization of the cellular components of the skin." [] xref: MP:0001212 is_a: HP:0011123 ! Skin Inflammation property_value: SCDO:0000340 MP:0001212 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001072 xsd:string [Term] id: MP:0001589 name: Abnormal Mean Corpuscular Hemoglobin def: "Anomalies in the average levels of hemoglobin contained in an erythrocyte." [] synonym: "Abnormal MCH" EXACT [] synonym: "Abnormal Mean Cell Hemoglobin" EXACT [] synonym: "Abnormal Mean Cell Hemoglobin Level" EXACT [] synonym: "Abnormal Mean Corpuscular Hemoglobin Level" EXACT [] xref: MP:0001589 is_a: HP:0001877 ! Abnormal Erythrocyte Morphology property_value: SCDO:0000340 MP:0001589 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000632 xsd:string [Term] id: MP:0001762 name: Diuresis def: "Increased volume of urine produced and excreted." [] comment: Clinicians sometimes mistakenly label increased urinary frequency as polyuria (increased urine output); Though rarely used, pollakisuria (or pollakiuria) is the correct term for increased frequency of urination. synonym: "Increased Urine Output" EXACT [] synonym: "Increased Urine Volume" EXACT [] synonym: "Polyuria" EXACT [] xref: MP:0001762 is_a: HP:0000079 ! Abnormality of the Urinary System relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/MP_0001762 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000395 xsd:string [Term] id: MP:0001792 name: Impaired Wound Healing def: "Reduced ability or inability to self-repair and close wounds." [] synonym: "Delayed Wound Healing" EXACT [] synonym: "Impaired Wound Repair" EXACT [] xref: MP:0001792 is_a: SCDO:0002674 ! Abnormality of Metabolism/Homeostasis relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada property_value: SCDO:0000340 MP:0001792 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000622 xsd:string [Term] id: MP:0002081 name: Perinatal Death def: "Death anytime within the perinatal period." [] synonym: "Perinatal Lethality" EXACT [] xref: MP:0002081 is_a: HP:0001197 ! Abnormality of Prenatal Development or Birth property_value: SCDO:0000340 MP:0002081 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000883 xsd:string [Term] id: MP:0002118 name: Abnormal Lipid Homeostasis def: "Anomaly in the processes involved in the maintenance of an internal equilibrium of lipids in the fluids and tissues." [] xref: MP:0002118 is_a: SCDO:0002674 ! Abnormality of Metabolism/Homeostasis property_value: SCDO:0000340 MP:0002118 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000284 xsd:string [Term] id: MP:0002329 name: Abnormal Blood Gas Level def: "Anomaly in the amount of oxygen and carbon dioxide in the blood." [] xref: MP:0002329 is_a: HP:0002086 ! Abnormality of the Respiratory System is_a: MP:0009642 ! Abnormal Blood Homeostasis property_value: SCDO:0000340 MP:0002329 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000810 xsd:string [Term] id: MP:0002412 name: Increased Susceptibility to Bacterial Infection def: "Greater likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria." [] comment: Characterised by: Repeated/recurrent local or systemic bacterial infections.\n\nCaused by: Multifactorial generally factors ultimately cause impaired immunity. synonym: "Decreased Resistance to Bacterial infection" EXACT [] xref: MP:0002412 is_a: HP:0002715 ! Abnormality of the Immune System relationship: SCDO:0000664 NCIT:C258 ! treated with Antibiotic relationship: SCDO:0000664 SCDO:0000930 ! treated with Infection Prophylaxis relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://purl.obolibrary.org/obo/MP_0002412 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000632 xsd:string [Term] id: MP:0003224 name: Neuron Degeneration def: "A retrogressive impairment of function or destruction of the functional cells of the nervous system that receive, conduct, and transmit impulses." [] synonym: "Nerve Degeneration" EXACT [] synonym: "Nerve Degenerations" EXACT [] synonym: "Neuron Degenerations" EXACT [] xref: MP:0003224 is_a: HP:0012639 ! Abnormal Nervous System Morphology property_value: http://purl.org/dc/elements/1.1/source http://www.neurodegenerationresearch.eu/about/what/ xsd:string property_value: SCDO:0000303 "Provide source for additional info." xsd:string property_value: SCDO:0000340 MP:0003224 property_value: SCDO:0000468 "Usually in the elderly persons. Aging associated with most disorders" xsd:string property_value: SCDO:0000661 "Multifactorial causes such as program cell death, genetic mutations, protein misfolding and intracellular mechanisms" xsd:string property_value: SCDO:0000662 "Multiple disease entities such as alzhiemers disease, parkinsons disease , huntington's disease and amylotrophic lateral sclerosis" xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000802 xsd:string [Term] id: MP:0005376 name: Metabolism/Homeostasis Phenotype def: "The observable morphological and physiological characteristics related to a state of equilibrium in the body with respect to various functions and to chemical composition of the fluids and tissues or the processes that cause many of the chemical changes in living mammalian organisms that are manifested through development and lifespan." [] synonym: "Homeostasis Phenotype" EXACT [] synonym: "Homeostasis/Metabolism Phenotype" EXACT [] xref: MP:0005376 is_a: OGMS:0000023 ! Phenotype property_value: SCDO:0000340 MP:0005376 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000811 xsd:string [Term] id: MP:0005533 name: Increased Body Temperature def: "Greater than the level of heat natural to a living being." [] synonym: "Raised Body Temperature" EXACT [] xref: MP:0005533 is_a: MP:0005535 ! Abnormal Body Temperature property_value: SCDO:0000340 MP:0005533 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000761 xsd:string [Term] id: MP:0005534 name: Decreased Body Temperature def: "Less than the level of heat natural to a living being." [] synonym: "Reduced Body Temperature" EXACT [] xref: MP:0005534 is_a: MP:0005535 ! Abnormal Body Temperature property_value: SCDO:0000340 MP:0005534 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000762 xsd:string [Term] id: MP:0005535 name: Abnormal Body Temperature def: "Deviation in the level of heat natural to a living being." [] xref: MP:0005535 is_a: SCDO:0002674 ! Abnormality of Metabolism/Homeostasis property_value: SCDO:0000340 MP:0005535 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000760 xsd:string [Term] id: MP:0005561 name: Increased Mean Corpuscular Hemoglobin def: "Greater than the average levels of hemoglobin contained in an erythrocyte." [] synonym: "High MCH" EXACT [] synonym: "High Mean Corpuscular Hemoglobin" EXACT [] synonym: "Increased MCH" EXACT [] synonym: "Increased Mean Cell Hemoglobin" EXACT [] xref: MP:0005561 is_a: MP:0001589 ! Abnormal Mean Corpuscular Hemoglobin property_value: SCDO:0000340 MP:0005561 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000634 xsd:string [Term] id: MP:0005562 name: Decreased Mean Corpuscular Hemoglobin def: "Less than the average levels of hemoglobin contained in an erythrocyte." [] synonym: "Decreased MCH" EXACT [] synonym: "Decreased Mean Cell Hemoglobin" EXACT [] synonym: "Low MCH" EXACT [] synonym: "Low Mean Corpuscular Hemoglobin" EXACT [] xref: MP:0005562 is_a: MP:0001589 ! Abnormal Mean Corpuscular Hemoglobin property_value: SCDO:0000340 MP:0005562 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000633 xsd:string [Term] id: MP:0009568 name: Abnormal Red Blood Cell Deformability def: "A measure (DImax) related to cell surface area, of the changeability of the membrane of circulating oxygen transporting cells as a function of physiologically relevant osmolality at a constant applied shear stress." [] xref: MP:0009568 is_a: HP:0020054 ! Abnormal Erythrocyte Physiology property_value: SCDO:0000340 MP:0009568 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000277 xsd:string [Term] id: MP:0009642 name: Abnormal Blood Homeostasis def: "Anomaly in the processes involved in the maintenance of an internal equilibrium of various functions or chemical or protein composition of the blood." [] synonym: "Abnormal Blood Chemistry" EXACT [] synonym: "Blood Chemistry Abnormalities" EXACT [] xref: MP:0009642 is_a: HP:0001871 ! Abnormality of Blood and Blood-Forming Tissues is_a: SCDO:0002674 ! Abnormality of Metabolism/Homeostasis property_value: SCDO:0000340 MP:0009642 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000809 xsd:string [Term] id: MP:0010066 name: Abnormal Red Blood Cell Distribution Width def: "An anomaly in the coefficient of variance (reference range) of the red blood cell volume for an organism." [] synonym: "Abnormal Erythrocyte Distribution Width" EXACT [] synonym: "Abnormal RDW" EXACT [] xref: MP:0010066 is_a: HP:0001877 ! Abnormal Erythrocyte Morphology property_value: SCDO:0000340 MP:0010066 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000639 xsd:string [Term] id: MP:0010067 name: Increased Red Blood Cell Distribution Width def: "Higher than normal coefficient of variance (reference range) of the red blood cell volume for an organism." [] synonym: "High RCDW" EXACT [] synonym: "High RDW" EXACT [] synonym: "High Red Blood Cell Distribution Width" EXACT [] synonym: "Increased Erythrocyte Distribution Width" EXACT [] synonym: "Increased RCDW" EXACT [] synonym: "Increased RDW" EXACT [] xref: MP:0010067 is_a: MP:0010066 ! Abnormal Red Blood Cell Distribution Width property_value: SCDO:0000340 MP:0010067 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000641 xsd:string [Term] id: MP:0010068 name: Decreased Red Blood Cell Distribution Width def: "Lower than normal coefficient of variance (reference range) of the red blood cell volume for an organism." [] synonym: "Decreased Erythrocyte Distribution Width" EXACT [] synonym: "Decreased RCDW" EXACT [] synonym: "Decreased RDW" EXACT [] synonym: "Low RCDW" EXACT [] synonym: "Low RDW" EXACT [] synonym: "Low Red Blood Cell Distribution Width" EXACT [] synonym: "Reduced RCDW" EXACT [] synonym: "Reduced RDW" EXACT [] synonym: "Reduced Red Blood Cell Distribution Width" EXACT [] xref: MP:0010068 is_a: MP:0010066 ! Abnormal Red Blood Cell Distribution Width property_value: SCDO:0000340 MP:0010068 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000640 xsd:string [Term] id: MP:0010163 name: Hemolysis def: "Destruction of erythrocytes such that hemoglobin is released from the cells; may occur by many different causal agents such as antibodies, bacteria, chemicals, temperature, and changes in tonicity." [] synonym: "Erythrocytolysis" EXACT [] synonym: "Erythrolysis" EXACT [] synonym: "Haematolysis" EXACT [] synonym: "Haemolysis" EXACT [] synonym: "Hematolysis" EXACT [] synonym: "Hemolyses" EXACT [] xref: MP:0010163 is_a: HP:0020054 ! Abnormal Erythrocyte Physiology property_value: SCDO:0000340 MP:0010163 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0009017 xsd:string [Term] id: MP:0011468 name: Abnormal Urine Amino Acid Level def: "Any anomaly in the amount in the urine of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group." [] xref: MP:0011468 is_a: HP:0003110 ! Abnormal Urine Homeostasis property_value: SCDO:0000340 MP:0011468 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000653 xsd:string [Term] id: MP:0011469 name: Abnormal Urine Creatinine Level def: "Any change in the amount of creatinine in the urine" [] xref: MP:0011469 is_a: MP:0011468 ! Abnormal Urine Amino Acid Level property_value: SCDO:0000340 MP:0011469 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000654 xsd:string [Term] id: MP:0011470 name: Increased Urine Creatinine Level def: "An increased amount of creatinine in the urine compared to the normal state." [] xref: MP:0011470 is_a: MP:0011469 ! Abnormal Urine Creatinine Level property_value: SCDO:0000340 MP:0011470 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000656 xsd:string [Term] id: MP:0011471 name: Decreased Urine Creatinine Level def: "a reduced amount of creatinine in the urine compared to the normal state" [] synonym: "Low Urine Creatinine Level" EXACT [] synonym: "Reduced Urine Creatinine Level" EXACT [] xref: MP:0011471 is_a: MP:0011469 ! Abnormal Urine Creatinine Level property_value: SCDO:0000340 MP:0011471 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000655 xsd:string [Term] id: MP:0013305 name: Isosthenuria def: "Inability of the kidneys to produce either a concentrated or a dilute urine; refers to a state in chronic renal disease in which the kidney cannot form urine with a higher or a lower specific gravity (concentration) than that of protein-free plasma; the specific gravity of the urine becomes fixed, irrespective of the fluid intake." [] comment: Urine specific gravity is similar to that of plasma (1.008-1.012). synonym: "Impaired Urine-Concentrating Ability" EXACT [] synonym: "Urine Concentrating Defect" EXACT [] xref: MP:0013305 is_a: HP:0004727 ! Impaired Renal Concentrating Ability property_value: SCDO:0000340 http://purl.obolibrary.org/obo/MP_0013305 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000667 xsd:string [Term] id: NBO:0000131 name: Alcohol Intake def: "A drinking behavior associated with the intake of alcohol." [] synonym: "Alcohol Consumption" EXACT [] xref: NBO:0000131 is_a: SCDO:0000487 ! Health Behaviour property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NBO_0000131 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000039 xsd:string [Term] id: NCIT:65495 name: Duloxetine def: "A drug used to treat depression and peripheral neuropathy (pain, numbness, tingling, burning, or weakness in the hands or feet) that can occur with diabetes." [] synonym: "Cymbalta" EXACT [] synonym: "Duloxetine HCl" EXACT [] synonym: "N-methyl-3-(1-naphthalenyloxy)-3-(2-thiophene)propanamide" EXACT [] xref: NCIT:65495 is_a: CHEBI:23888 ! Drug is_a: SCDO:0001133 ! Symptomatic Therapeutics relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: http://purl.org/dc/elements/1.1/source http://purl.bioontology.org/ontology/MESH/D000068736 property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C65495 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0006467 xsd:string [Term] id: NCIT:C101217 name: Retinal Examination def: "An examination of the retina of the eye using an ophthalmoscope." [] synonym: "Fundoscopy" EXACT [] xref: NCIT:C101217 is_a: SCDO:0000835 ! Ophthalmoscopy property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C101217 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001009 xsd:string [Term] id: NCIT:C102531 name: Pulmonary Infiltrate def: "A finding indicating the presence of an inflammatory or neoplastic cellular infiltrate in the lung parenchyma." [] synonym: "Lung Infiltrate" EXACT [] xref: NCIT:C102531 is_a: HP:0002086 ! Abnormality of the Respiratory System property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C102531 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0007383 xsd:string [Term] id: NCIT:C102988 name: Patient Reported Outcomes Measurement Information System (PROMIS) def: "A project to develop standards for the collection and analysis of patient-reported health status data using a system of highly reliable, precise measures for physical, mental, and social well-being. Patients are asked a series of rigorously reviewed questions covering common domains and metrics across differing conditions and treatments. The questions can be administered in short forms or adaptively through computerized adaptive testing and reports can be generated to allow clinicians to better understand how treatments might affect the quality of life of their patients." [] synonym: "Patient Reported Outcomes Measurement Information System" EXACT [] synonym: "PROMIS" EXACT [] xref: NCIT:C102988 is_a: SCDO:0000953 ! Quality of Life Measure is_a: SCDO:1000297 ! Quality of Life and Care Diagnostic Instrument property_value: http://purl.org/dc/elements/1.1/source "Bevans, M., Ross, A., & Cella, D. (2014). Patient-Reported Outcomes Measurement Information System (PROMIS): Efficient, standardized tools to measure self-reported health and quality of life. Nursing Outlook, 62, 339-345." xsd:string property_value: http://purl.org/dc/elements/1.1/source "Dampier C, Barry V, Gross HE, Lui Y, Thornburg CD, DeWalt DA, Reeve BB. (2016). Initial Evaluation of the Pediatric PROMIS® Health Domains in Children and Adolescents With Sickle Cell Disease. Pediatric Blood & Cancer. Feb 19. doi: 10.1002/pbc.25944." xsd:string property_value: http://purl.org/dc/elements/1.1/source "DeWitt, E. M., Barnett, K., Farrell, J., Revicki, D., Carle, A., Cook, K., Sherry, D. D. (2014). A164: Development of pediatric item banks to measure pain behavior in the Patient-Reported Outcomes Measurement Information System. Arthritis & Rheumatology, 66(Suppl. 11), S212-S2121." xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C102988 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000871 xsd:string [Term] id: NCIT:C103165 name: Subject Visit Type def: "The kind of visit undertaken by the subject within a study, such as inpatient, outpatient, telephone, etc." [] xref: NCIT:C103165 is_a: EUPATH:0000310 ! Information on Observation Details property_value: SCDO:0000340 "C103165" property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000852 xsd:string [Term] id: NCIT:C103270 name: Waiver of Consent def: "The release from the requirement to obtain informed consent during a study that is granted by Human Subject Protection committee for a research institution for a protocol that is being reviewed by the Institutional Review Board." [] comment: Waiver of the requirement of a signed consent form from potential participants or parents of children who are potential participants may be approved by a Research Ethics Committee if the research carries no more than minimal risk (i.e., risk that is no more likely and not greater than that attached to routine medical or psychological examination) and if the procedures to be used are only those for which signed consent forms are not customarily required outside the research context. Such waivers may also be approved when existence of a signed consent form would be an unjustified threat to the participant's confidentiality. synonym: "Consent Waiver" EXACT [] synonym: "Waiver Of Informed Consent" EXACT [] xref: NCIT:C103270 is_a: SCDO:1000462 ! Research Ethics Committee Decision property_value: http://purl.org/dc/elements/1.1/source "International Ethical Guidelines for Health-related Research Involving Humans, Fourth Edition. Geneva. Council for International Organizations of Medical Sciences (CIOMS); 2016." xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C103270 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0005773 xsd:string [Term] id: NCIT:C103526 name: Patient Health Questionnaire-9 (PHQ-9) def: "A 9-item scale using each of the 9 DSM-IV criteria with self-reported frequency of \"0\" (not at all) to \"3\" (nearly every day). One of the most widely used instruments to assess depression, PHQ-9 scores of 5, 10, 15, and 20 represent mild, moderate, moderately severe, and severe depression, respectively." [] synonym: "Patient Health Questionnaire - 9 Item" EXACT [] synonym: "Patient Health Questionnaire-9" EXACT [] synonym: "PHQ-9" EXACT [] synonym: "PHQ01" EXACT [] xref: NCIT:C103526 is_a: SCDO:0000953 ! Quality of Life Measure is_a: SCDO:1000297 ! Quality of Life and Care Diagnostic Instrument property_value: http://purl.org/dc/elements/1.1/source "Kroenke K, Spitzer R, Williams W. The PHQ-9: Validity of a brief depression severity measure. Journal of General Internal Medicine. 2001; 16: 606-616." xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C103526 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000870 xsd:string [Term] id: NCIT:C107564 name: S-Nitroso-Hemoglobin def: "Hemoglobin that has a nitric oxide bound to the cysteine at position 93 in the beta-globin chain." [] synonym: "S-Nitrosated Hemoglobin" EXACT [] synonym: "S-Nitrosohemoglobin" EXACT [] xref: NCIT:C107564 is_a: NCIT:C16676 ! Hemoglobin property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C107564 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000169 xsd:string [Term] id: NCIT:C113340 name: Secondary Amenorrhea def: "The cessation of menstruation for six months or more in a female that is not pregnant, breastfeeding or menopausal." [] xref: NCIT:C113340 is_a: HP:0000080 ! Abnormality of Reproductive System Physiology property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C113340 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001447 xsd:string [Term] id: NCIT:C114300 name: Carboxyhemoglobin def: "Hemoglobin where the heme group has formed a stable complex with carbon monoxide (CO). This complex is produced after CO has been inhaled or as a byproduct of hemoglobin, protoporphyrin or dichloromethane catabolism. The heme-CO complex is approximately 200 times more stable than heme-oxygen complexes. Thus, high levels of carboxyhemoglobin in the circulation can lead to tissue hypoxia and death." [] synonym: "COHb" EXACT [] {synonymtypedef="abbreviation"} xref: NCIT:C114300 is_a: NCIT:C16676 ! Hemoglobin property_value: SCDO:0000340 NCIT:C114300 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000168 xsd:string [Term] id: NCIT:C114714 name: Dialysis Membrane Reaction def: "A severe hypersensitivity-like reaction occurring during dialysis due to exposure to the dialysis membrane." [] synonym: "Dialyzer Reaction" EXACT [] xref: NCIT:C114714 is_a: NCIT:C78254 ! Device Complication property_value: SCDO:0000340 https://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C114714 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000387 xsd:string [Term] id: NCIT:C114717 name: Dialysis Catheter Fracture def: "A crack or break in a dialysis catheter caused by material weakness or mechanical compression." [] xref: NCIT:C114717 is_a: NCIT:C78254 ! Device Complication property_value: SCDO:0000340 https://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C114717 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000386 xsd:string [Term] id: NCIT:C115199 name: Cardiovascular Complication def: "Any heart or vascular disorder occurring as a consequence of injury to the cardiovascular system." [] xref: NCIT:C115199 is_a: NCIT:C2959 ! Complication property_value: SCDO:0000340 https://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C115199 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000390 xsd:string [Term] id: NCIT:C115224 name: Hepatic Complication def: "Any disorder of the liver occurring as a consequence of injury to the liver parenchyma." [] synonym: "Liver Complication" EXACT [] xref: NCIT:C115224 is_a: NCIT:C2959 ! Complication property_value: SCDO:0000340 https://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C115224 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000382 xsd:string [Term] id: NCIT:C115319 name: Ophthalmologic Complication def: "Any eye disorder occurring as a consequence of injury to the eye." [] synonym: "Ophthalmologic Manifestations" EXACT [] xref: NCIT:C115319 is_a: NCIT:C2959 ! Complication relationship: SCDO:0000664 SCDO:1000017 ! treated with Surgery relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 https://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C115319 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000832 xsd:string [Term] id: NCIT:C116081 name: Dialysis Access Complication def: "Any issue that arises as a consequence of a problem with a patient's dialysis access." [] xref: NCIT:C116081 is_a: NCIT:C2959 ! Complication property_value: SCDO:0000340 https://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C116081 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000391 xsd:string [Term] id: NCIT:C116161 name: Multiplex Ligation-Dependent Probe Amplification def: "A type of high-throughput, multiplex PCR method used to determine abnormal DNA copy number changes of up to 50 genomic DNA or RNA sequences with a single pair of PCR primers. It is frequently used in the detection of genetic aberrations in tumors, and can distinguish sequences differing in only a single nucleotide." [] synonym: "MLPA" EXACT [] xref: NCIT:C116161 is_a: SCDO:0000913 ! Polymerase Chain Reaction property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C116161 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0003929 xsd:string [Term] id: NCIT:C116942 name: Developmental Delay def: "Failure to meet, or late achievement of developmental milestones." [] xref: NCIT:C116942 is_a: HP:0012759 ! Neurodevelopmental Abnormality relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: http://purl.org/dc/elements/1.1/source http://www.med.umich.edu/yourchild/topics/devdel.htm xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C116942 property_value: SCDO:0000661 "Can have many different causes, such as genetic causes (like Down syndrome), or complications of pregnancy and birth (like prematurity or infections). Often, however, the specific cause is unknown. Some causes can be easily reversed if caught early enough, such as hearing loss from chronic ear infections, or lead poisoning." xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001293 xsd:string [Term] id: NCIT:C118385 name: deprecated-Avascular Necrosis def: "Tissue death resulting from an interruption to the blood supply." [] synonym: "AVN" EXACT [] xref: NCIT:C118385 is_a: SCDO:0000359 ! deprecated terms property_value: SCDO:0000303 "This is a synonym for osteonecrosis in our ontology (SCDO:0000841), which is controversial between different literature. Please check with a clinician if these two terms refer to the same condition." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C118385 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0004832 xsd:string is_obsolete: true replaced_by: SCDO:0000841 [Term] id: NCIT:C120254 name: Intelligence Scale - 16 to 90 years def: "A standardized tool designed to assess an individual's cognitive abilities. It consists of a battery of tests that allow an investigator to conduct a comprehensive cognitive evaluation of IQ." [] synonym: "WAIS-IV" EXACT [] synonym: "Wechsler Adult Intelligence Scale - Fourth Edition" EXACT [] synonym: "Wechsler Adult Intelligence Scale 4th Edition" EXACT [] synonym: "Wechsler Adult Intelligence Scale, Fourth Edition" EXACT [] synonym: "Wechsler Adult Intelligence Scale, Fourth Edition (WAIS-IV)" EXACT [] xref: NCIT:C120254 is_a: NCIT:C122920 ! Intelligence Scale property_value: SCDO:0000303 "Life stage: Adolescent, Adult" xsd:string property_value: SCDO:0000303 "The Sickle Cell Disease Neurology, Quality of Life, and Health Services Working Group recognizes that there is an age overlap between the WAIS-IV and the Wechsler Intelligence Scale for Children-Fifth Edition (WISC-V). The Working Group recommends providers use their clinical judgment, consider the purpose of testing participants, and refer to the frequently asked questions section of the Pearson website for the WAIS-IV and the WISC-V for guidance on selecting an age-appropriate test for individuals." xsd:string property_value: SCDO:0000340 http://www.phenxtoolkit.org/index.php?pageLink=browse.protocoldetails&id=820501 xsd:string property_value: SCDO:0000479 "PhenX protocol: Intelligence Scale - 16 to 90 years #820501" xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000646 xsd:string [Term] id: NCIT:C120255 name: Intelligence Scale - 6 to 16 years 11 months def: "A battery of tests that allow an investigator to conduct a comprehensive evaluation of a child or adolescent's cognitive ability." [] synonym: "Wechsler Intelligence Scale for Children-Fifth Edition" EXACT [] synonym: "Wechsler Intelligence Scale for Children-Fifth Edition (WISC-V)" EXACT [] synonym: "WISC-V" EXACT [] xref: NCIT:C120255 is_a: NCIT:C122920 ! Intelligence Scale property_value: SCDO:0000303 "It consists of a core battery of subtests, which focus on five specific domains (verbal comprehension, processing speed, visual spatial, working memory, and fluid reasoning), as well as optional ancillary subtests. These ancillary subtests measure areas that are important to areas of academic achievement." xsd:string property_value: SCDO:0000303 "Life stage: Child, Adolescent" xsd:string property_value: SCDO:0000303 "The Sickle Cell Disease Neurology, Quality of Life, and Health Services Working Group recognizes that there is an age overlap between the Wechsler Intelligence Scale for Children®-Fifth Edition (WISC-V) and Wechsler Preschool and Primary Scale of Intelligence-Fourth Edition (WPPSI-IV), as well as between the WISC-V and the Wechsler Adult Intelligence Scale, Fourth Edition (WAIS-IV). The Working Group recommends that providers use their clinical judgment, consider the purpose of testing participants, and refer to the frequently asked questions section of the Pearson website for WISC-V, WPPSI-IV, and WAIS-IV for guidance on selecting an age-appropriate test." xsd:string property_value: SCDO:0000340 http://www.phenxtoolkit.org/index.php?pageLink=browse.protocoldetails&id=820503 xsd:string property_value: SCDO:0000479 "PhenX protocol: Intelligence Scale - 6 to 16 years 11 months #820503" xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000648 xsd:string [Term] id: NCIT:C120256 name: Intelligence Scale - 2 years, 6 months to 7 years, 7 months def: "A standardized tool designed to assess the cognitive development in preschool and young children (up to age 7 years and 7 months). It consists of a battery of tests that allow an investigator to conduct a comprehensive evaluation of IQ." [] synonym: "Wechsler Preschool & Primary Scale of Intelligence 4th Edition" EXACT [] synonym: "Wechsler Preschool and Primary Scale of Intelligenc-Fourth Edition" EXACT [] synonym: "Wechsler Preschool and Primary Scale of Intelligenc-Fourth Edition (WPPSI-IV)" EXACT [] synonym: "Wechsler Preschool and Primary Scale of Intelligence IV" EXACT [] synonym: "WPPSI-IV" EXACT [] xref: NCIT:C120256 is_a: NCIT:C122920 ! Intelligence Scale property_value: SCDO:0000303 "Life stage: Toddler, Child" xsd:string property_value: SCDO:0000303 "The Sickle Cell Disease Neurology, Quality of Life, and Health Services Working Group recognizes that there is an age overlap between the WPPSI-IV and the Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III) and between the WPPSI-IV and the Wechsler Intelligence Scale for Children-Fifth Edition (WISC-V). The Working Group recommends that providers use their clinical judgment, consider the purpose of testing participants, and refer to the frequently asked questions section of the Pearson website for the WPPSI-IV, Bayley-III, and the WISC-V for guidance on selecting an age-appropriate test." xsd:string property_value: SCDO:0000340 http://www.phenxtoolkit.org/index.php?pageLink=browse.protocoldetails&id=820502 xsd:string property_value: SCDO:0000479 "PhenX protocol: Intelligence Scale - 2 years, 6 months to 7 years, 7 months #820502" xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000647 xsd:string [Term] id: NCIT:C122920 name: Intelligence Scale def: "An assessment tool designed to measure an individual's cognitive capabilities. It may be general or it may assess abilities in more discrete cognitive domains." [] synonym: "Intelligence Test" EXACT [] xref: NCIT:C122920 is_a: NCIT:C91105 ! Clinical or Research Assessment Questionnaire is_a: SCDO:1000033 ! Diagnostic Instrument relationship: SCDO:0001297 NCIT:C16564 ! has essential measure Ethnic Group relationship: SCDO:0001297 NCIT:C17049 ! has essential measure Race relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C122920 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000645 xsd:string [Term] id: NCIT:C122931 name: Imaging Transcranial Doppler Ultrasonography def: "A diagnostic technique that uses pulsed Doppler ultrasound to both identify blood vessels in the brain and measure the velocity of blood flow through those vessels. It allows a more accurate estimation of stroke risk because it allows outlining of parenchymal structures and visualization of the examined vessels." [] synonym: "TCDi" EXACT [] xref: NCIT:C122931 is_a: NCIT:C154865 ! Cerebral Blood Flow Assay is_a: NCIT:C17230 ! Ultrasound Test property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C122931 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000613 xsd:string [Term] id: NCIT:C123446 name: Continuous Ambulatory ECG def: "A continuous electrocardiographic (ECG) recording that utilizes one or more leads that both records and stores data directly to a device worn by the subject, such that the subject need not be restricted to a medical facility, and may be able to participate in their customary activities of daily living." [] xref: NCIT:C123446 is_a: SCDO:0000500 ! Heart Function Test relationship: SCDO:1000192 SCDO:0000416 ! uses diagnostic device Electrocardiographic Monitor property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C123446 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000281 xsd:string [Term] id: NCIT:C123667 name: Global Mental Status Screener - Adult def: "A standardized rating scale developed by Ziad Nasreddine in 1996 to screen for mild cognitive dysfunction and impairment. This instrument assesses the following cognitive domains: attention and concentration, executive functions, memory, language, visuoconstructional skills, conceptual thinking, calculations, and orientation" [] synonym: "MOCA" EXACT [] synonym: "MOCA01" EXACT [] synonym: "Montreal Cognitive Assessment" EXACT [] synonym: "Montreal Cognitive Assessment Functional Test" EXACT [] synonym: "Montreal Cognitive Assessment Questionnaire" EXACT [] xref: NCIT:C123667 is_a: SCDO:0000455 ! Global Mental Status Screener property_value: http://purl.org/dc/elements/1.1/source https://www.phenxtoolkit.org/protocols/view/130701 property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C123667 property_value: SCDO:0000479 "PhenX protocol: Global Mental Status Screener - Adult #130701" xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000335 xsd:string [Term] id: NCIT:C124059 name: Pulmonary Consolidation def: "A chest X-ray finding indicating the presence of a radio-opaque area in the lung. The opacification is caused by fluid or solid material within the airways or lung parenchyma." [] synonym: "Air Space Opacificatio" EXACT [] synonym: "Air-Space Shadowing" EXACT [] synonym: "Airspace Consolidation" EXACT [] synonym: "Airspace Opacification" EXACT [] synonym: "Consolidation" EXACT [] xref: NCIT:C124059 is_a: HP:0030680 ! Abnormal Cardiovascular System Morphology relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000303 "Described in the Tanzania guidelines as 'reduced air entry, increased tactile vocal fremitus, and dull percussion at lung bases, usually bilateral'." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C124059 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0006222 xsd:string [Term] id: NCIT:C124065 name: Hepatic Iron Concentration def: "A measurement of the concentration of iron in the liver as an estimate of body iron load." [] synonym: "Hepatic Iron" EXACT [] synonym: "Liver Iron" EXACT [] synonym: "Liver Iron Concentration" EXACT [] xref: NCIT:C124065 is_a: SCDO:0000728 ! Diagnostic Measurement relationship: SCDO:1000190 NCIT:C16809 ! obtained via diagnostic tool Magnetic Resonance Imaging relationship: SCDO:1000190 NCIT:C51677 ! obtained via diagnostic tool Liver Biopsy relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C124065 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000555 xsd:string [Term] id: NCIT:C124475 name: Mid Upper Arm Circumference def: "A circumferential measurement of the largest part of the upper arm." [] synonym: "Mid-Upper Arm Circumference" EXACT [] synonym: "MUAC" EXACT [] synonym: "MUARMCIR" EXACT [] xref: NCIT:C124475 is_a: CMO:0000021 ! Body Morphological Measurement property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C124475 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000758 xsd:string [Term] id: NCIT:C126120 name: Oxygenated Hemoglobin def: "Hemoglobin where the heme group has formed a reversible complex with oxygen (O2) in the lungs. This molecule is found in the systemic arteries and transports O2 from the lungs to the tissues where it is readily released." [] synonym: "HbO2" EXACT [] synonym: "Oxyhemoglobin" EXACT [] xref: NCIT:C126120 is_a: NCIT:C16676 ! Hemoglobin property_value: SCDO:0000340 NCIT:C126120 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000275 xsd:string [Term] id: NCIT:C126121 name: Deoxygenated Hemoglobin def: "Hemoglobin containing a heme group that is not bound to oxygen (O2). This molecule is normally found in the systemic veins following transit through capillaries and release of O2 into the tissues. Excess deoxyhemoglobin can be associated with hypoxia." [] synonym: "Deoxyhemoglobin" EXACT [] xref: NCIT:C126121 is_a: NCIT:C16676 ! Hemoglobin property_value: SCDO:0000340 NCIT:C126121 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000057 xsd:string [Term] id: NCIT:C128326 name: Intra-Abdominal Abscess def: "An abscess within the abdomen." [] xref: NCIT:C128326 is_a: IDO:0000586 ! Infection relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C128326 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0008079 xsd:string [Term] id: NCIT:C129072 name: Hereditary Persistence of Fetal Hemoglobin def: "The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin." [] comment: This is a benign condition. synonym: "Hereditary Persistence of Foetal Haemoglobin" EXACT [] synonym: "HPFH" EXACT [] xref: NCIT:C129072 is_a: SCDO:0007192 ! Quantitative Hemoglobinopathy relationship: SCDO:0000664 SCDO:0000580 ! treated with Hydroxyurea relationship: SCDO:1000172 SCDO:1000235 ! has causal genotype Hereditary Persistence of Fetal Hemoglobin Genotype relationship: SCDO:1000210 SCDO:0006860 ! has causal or contributing genetic variation HBG1 and/or HBG2 Mutations relationship: SCDO:1000210 SCDO:1000063 ! has causal or contributing genetic variation HBB, 106-KB DEL relationship: SCDO:1000218 NCIT:C35447 ! has manifestation Osteonecrosis of the Femoral Head relationship: SCDO:1000223 HP:0011904 ! has causal molecular phenotype Increased Hemoglobin F relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C129072 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000560 xsd:string [Term] id: NCIT:C131682 name: Sickle Cell Disease-SS def: "A variant of sickle cell disease due to homozygosity of the E6V mutation, amino acid substitution of valine for glutamic acid in the sixth position of the beta chain, resulting in the production of hemoglobin S from both alleles." [] synonym: "Hb SS Disease" EXACT [] synonym: "Hb SS-Disease" EXACT [] synonym: "Hemoglobin SS Disease" EXACT [] synonym: "Homozygous Sickle Cell Disease" EXACT [] synonym: "SCA" EXACT [] synonym: "Severe SCD" EXACT [] synonym: "Sickle Cell Anemia" EXACT [] synonym: "Sickle Cell Disease SS" EXACT [] synonym: "Sickle Cell Hemoglobin S Disease" EXACT [] synonym: "Sickle Cell-SS Disease" EXACT [] synonym: "SS and S/Beta-Zero Thalassemia" EXACT [] xref: NCIT:C131682 is_a: SCDO:0008262 ! Structural Hemoglobinopathy is_a: SCDO:1000106 ! Sickle Cell Disease relationship: SCDO:0000663 NCIT:C15709 ! diagnosed using tool Genetic Testing relationship: SCDO:0000663 NCIT:C79903 ! diagnosed using tool Blood Smear relationship: SCDO:0000663 SCDO:0000547 ! diagnosed using tool Hemoglobin Profile Assay relationship: SCDO:0001364 SCDO:1000242 ! has mode of inheritance Autosomal Recessive Homozygous relationship: SCDO:1000172 SCDO:1000053 ! has causal genotype Hemoglobin Genotype SS relationship: SCDO:1000210 SCDO:1000039 ! has causal or contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000218 ARO:0000006 ! has manifestation Erythromycin relationship: SCDO:1000218 DOID:0060181 ! has manifestation Ischemic Cholitis relationship: SCDO:1000218 DOID:2326 ! has manifestation Gastroenteritis relationship: SCDO:1000218 DOID:813 ! has manifestation Septic Arthritis relationship: SCDO:1000218 HP:0000084 ! has manifestation Kidney Failure relationship: SCDO:1000218 HP:0000097 ! has manifestation Focal Segmental Glomerulosclerosis relationship: SCDO:1000218 HP:0000822 ! has manifestation Hypertension relationship: SCDO:1000218 HP:0000823 ! has manifestation Delayed Puberty relationship: SCDO:1000218 HP:0001081 ! has manifestation Cholelithiasis relationship: SCDO:1000218 HP:0001269 ! has manifestation Hemiparesis relationship: SCDO:1000218 HP:0001394 ! has manifestation Cirrhosis relationship: SCDO:1000218 HP:0001406 ! has manifestation Intrahepatic Cholestasis relationship: SCDO:1000218 HP:0001635 ! has manifestation Cardiac Failure relationship: SCDO:1000218 HP:0001658 ! has manifestation Myocardial Infarction relationship: SCDO:1000218 HP:0001744 ! has manifestation Splenomegaly relationship: SCDO:1000218 HP:0001873 ! has manifestation Thrombocytopenia relationship: SCDO:1000218 HP:0001875 ! has manifestation Neutropenia relationship: SCDO:1000218 HP:0001878 ! has manifestation Hemolytic Anemia relationship: SCDO:1000218 HP:0001889 ! has manifestation Megaloblastic Anemia relationship: SCDO:1000218 HP:0001896 ! has manifestation Reticulocytopenia relationship: SCDO:1000218 HP:0001903 ! has manifestation Anemia relationship: SCDO:1000218 HP:0001974 ! has manifestation Leukocytosis relationship: SCDO:1000218 HP:0002090 ! has manifestation Pneumonia relationship: SCDO:1000218 HP:0002204 ! has manifestation Pulmonary Embolism relationship: SCDO:1000218 HP:0002240 ! has manifestation Hepatomegaly relationship: SCDO:1000218 HP:0003158 ! has manifestation Hyposthenuria relationship: SCDO:1000218 HP:0003265 ! has manifestation Neonatal Hyperbilirubinemia relationship: SCDO:1000218 HP:0004756 ! has manifestation Ventricular Tachycardia relationship: SCDO:1000218 HP:0004870 ! has manifestation Chronic Hemolytic Anemia relationship: SCDO:1000218 HP:0011106 ! has manifestation Hypovolemia relationship: SCDO:1000218 HP:0011950 ! has manifestation Bronchiolitis relationship: SCDO:1000218 HP:0012330 ! has manifestation Pyelonephritis relationship: SCDO:1000218 HP:0012532 ! has manifestation Chronic Pain relationship: SCDO:1000218 HP:0012574 ! has manifestation Mesangial Hypercellularity relationship: SCDO:1000218 HP:0012735 ! has manifestation Cough relationship: SCDO:1000218 HP:0030243 ! has manifestation Hepatic Vein Thrombosis relationship: SCDO:1000218 HP:0100749 ! has manifestation Chest Pain relationship: SCDO:1000218 NCIT:C102531 ! has manifestation Pulmonary Infiltrate relationship: SCDO:1000218 NCIT:C124059 ! has manifestation Pulmonary Consolidation relationship: SCDO:1000218 NCIT:C128326 ! has manifestation Intra-Abdominal Abscess relationship: SCDO:1000218 NCIT:C27088 ! has manifestation Hyperbilirubinemia relationship: SCDO:1000218 NCIT:C28516 ! has manifestation Sickle Cell Dactylitis relationship: SCDO:1000218 NCIT:C34465 ! has manifestation Cholecystitis relationship: SCDO:1000218 NCIT:C35146 ! has manifestation Chronic Cholecystitis relationship: SCDO:1000218 NCIT:C35152 ! has manifestation Acute Cholecystitis relationship: SCDO:1000218 NCIT:C35372 ! has manifestation Ascending Cholangitis relationship: SCDO:1000218 NCIT:C35447 ! has manifestation Osteonecrosis of the Femoral Head relationship: SCDO:1000218 NCIT:C50791 ! has manifestation Urinary Tract Infection relationship: SCDO:1000218 NCIT:C78598 ! has manifestation Posterior Reversible Leukoencephalopathy relationship: SCDO:1000218 NCIT:C95437 ! has manifestation Acute Pancreatitis relationship: SCDO:1000218 NCIT:C96239 ! has manifestation Glomerular Hypertrophy relationship: SCDO:1000218 NCIT:C99042 ! has manifestation Renal Vein Thrombosis relationship: SCDO:1000218 NCIT:C99063 ! has manifestation Spinal Cord Infarction relationship: SCDO:1000218 SCDO:0000228 ! has manifestation Chronic Neuropathic Pain relationship: SCDO:1000218 SCDO:0000508 ! has manifestation Hematuria relationship: SCDO:1000218 SCDO:0000685 ! has manifestation Leg Ulcer relationship: SCDO:1000218 SCDO:0000851 ! has manifestation Pain relationship: SCDO:1000218 SCDO:0000943 ! has manifestation Pulmonary Hypertension relationship: SCDO:1000218 SCDO:0001067 ! has manifestation Sickle Retinopathy relationship: SCDO:1000218 SCDO:0001135 ! has manifestation Acute Sickle Cell Crisis relationship: SCDO:1000218 SCDO:0001229 ! has manifestation Vaso-Occlusive Crisis relationship: SCDO:1000218 SCDO:0001511 ! has manifestation Renal Medullary Carcinoma relationship: SCDO:1000218 SCDO:0002039 ! has manifestation Zinc Deficiency relationship: SCDO:1000218 SCDO:0002106 ! has manifestation Splenic Infarction relationship: SCDO:1000218 SCDO:0004187 ! has manifestation Hemolytic Crisis relationship: SCDO:1000218 SCDO:0004576 ! has manifestation Chronic Hypersplenism relationship: SCDO:1000218 SCDO:0004829 ! has manifestation Transient Ischemic Attack relationship: SCDO:1000218 SCDO:0004836 ! has manifestation Angina relationship: SCDO:1000218 SCDO:0004847 ! has manifestation Acute Hepatic Sequestration relationship: SCDO:1000218 SCDO:0004888 ! has manifestation Functional Hyposplenism relationship: SCDO:1000218 SCDO:0005167 ! has manifestation Chronic Anemia relationship: SCDO:1000218 SCDO:0005191 ! has manifestation Hyperhemolysis relationship: SCDO:1000218 SCDO:0006000 ! has manifestation Fever relationship: SCDO:1000218 SCDO:0006429 ! has manifestation Gallbladder Empyema relationship: SCDO:1000218 SCDO:0006461 ! has manifestation Acutely Severe Anemia relationship: SCDO:1000218 SCDO:0006847 ! has manifestation Aplastic Crisis relationship: SCDO:1000218 SCDO:0006905 ! has manifestation Hypersplenism relationship: SCDO:1000218 SCDO:0006909 ! has manifestation Hyper-Hemolytic Crisis relationship: SCDO:1000218 SCDO:0007161 ! has manifestation Acute Splenic Sequestration Crisis relationship: SCDO:1000218 SCDO:0008037 ! has manifestation Acute Symptomatic Seizure relationship: SCDO:1000218 SCDO:0008625 ! has manifestation Right Upper Quadrant Syndrome relationship: SCDO:1000218 SCDO:0008937 ! has manifestation Central Retinal Artery Occlusion relationship: SCDO:1000218 SCDO:0009117 ! has manifestation Folate Deficiency relationship: SCDO:1000218 SCDO:0009350 ! has manifestation Splenic Sequestration relationship: SCDO:1000218 SCDO:0009445 ! has manifestation Renal Papillary Necrosis relationship: SCDO:1000218 SCDO:0009664 ! has manifestation Abdominal Vaso-Occlusive Crisis relationship: SCDO:1000218 SCDO:1000376 ! has manifestation Osteonecrosis of the Humeral Head relationship: SCDO:1000223 SCDO:0000514 ! has causal molecular phenotype Hemoglobin S relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 NCIT:C131682 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000549 xsd:string [Term] id: NCIT:C133543 name: Crizanlizumab def: "A humanized monoclonal immunoglobulin G1 anti-P-selectin antibody with vaso-protective and anti-vaso-occlusive properties. Upon administration, crizanlizumab binds to P-selectin and blocks its interaction with P-selectin glycoprotein ligand-1 (PSGL-1; SELPLG) on neutrophils and monocytes. P-selectin, a glycoprotein that functions as a cell adhesion molecule (CAM), translocates to the surface of activated endothelial cells and platelets, upon stimulation, where it binds to its ligand and mediates the rolling of platelets and neutrophils on activated endothelial cells. Therefore, blockade of p-selectin may inhibit platelet aggregation, maintain blood flow and minimize sickle cell-related pain crises (SCPC)." [] synonym: "Adakveo" EXACT [] synonym: "SEG101" EXACT [] synonym: "SelG1" EXACT [] xref: NCIT:C133543 is_a: CHEBI:23888 ! Drug is_a: SCDO:0000922 ! Preventative Therapeutics property_value: http://purl.org/dc/elements/1.1/source https://www.fda.gov/news-events/press-announcements/fda-approves-first-targeted-therapy-treat-patients-painful-complication-sickle-cell-disease property_value: http://purl.org/dc/elements/1.1/source https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5481200/ property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C133543 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000380 xsd:string [Term] id: NCIT:C141366 name: Hemoglobin Lepore Syndrome def: "A rare autosomal recessive hemoglobinopathy, caused by the presence of two deltabeta globin fusion chains, which occurs due to a crossover between the delta (HBD) and beta globin (HBB) gene loci during meiosis." [] synonym: "Hb Lepore" EXACT [] synonym: "Hb Lepore Syndrome" EXACT [] synonym: "Homozygous Hb Lepore" EXACT [] synonym: "Homozygous Hemoglobin Lepore" EXACT [] xref: NCIT:C141366 is_a: SCDO:0000343 ! Delta Beta Thalassemia relationship: SCDO:0000663 CHMO:0001009 ! diagnosed using tool High-Performance Liquid Chromatography relationship: SCDO:0000663 NCIT:C15709 ! diagnosed using tool Genetic Testing relationship: SCDO:0000663 SCDO:0000666 ! diagnosed using tool Isoelectric Focusing relationship: SCDO:0001364 HP:0000007 ! has mode of inheritance Autosomal Recessive relationship: SCDO:1000172 SCDO:1000209 ! has causal genotype Crossover between delta (HBD) and beta globin (HBB) gene loci property_value: SCDO:0000340 http://en.wikipedia.org/wiki/Hemoglobin_Lepore_syndrome xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000538 xsd:string [Term] id: NCIT:C142494 name: Data Storage def: "To maintain data by placing the data, or a copy of the data, onto an electronically accessible device for preservation (either in plain-text or encrypted format)." [] xref: NCIT:C142494 is_a: SCDO:0006339 ! Research property_value: SCDO:0000340 https://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C142494 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000420 xsd:string [Term] id: NCIT:C142541 name: Research Ethics Committee def: "An independent group that comprises medical, scientific, and non-scientific members, and is tasked with the continuing review and approval of research, including clinical trials, with respect to the protocols, methods, and informed consent process to ensure the protection of the rights, safety, and wellbeing of participants." [] synonym: "Ethics Committee" EXACT [] synonym: "Human Subject Protection Committee" EXACT [] synonym: "REC" EXACT [] synonym: "Research Ethics Committee" EXACT [] xref: NCIT:C142541 is_a: SCDO:1000430 ! Ethics Related Concept property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C142541&jump_to_nav=true property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0009748 xsd:string [Term] id: NCIT:C142664 name: Recruitment Period def: "The interval of time during which subjects are to be enrolled in a clinical study." [] xref: NCIT:C142664 is_a: SCDO:0300005 ! Research Characteristics property_value: SCDO:0000340 https://bioportal.bioontology.org/ontologies/ONE/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C142664 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000400 xsd:string [Term] id: NCIT:C152089 name: Voxelotor def: "An orally bioavailable modulator and stabilizer of sickle cell hemoglobin (HbS), with potential use in the treatment of sickle cell disease (SCD). Upon administration, voxelotor targets and covalently binds to the N-terminal valine of the alpha chain of HbS. This stabilizes HbS, thereby improving oxygen binding affinity. The binding of voxelotor to HbS prevents HbS polymerization, reduces sickling, decreases red blood cell (RBC) damage and increases the half-life of RBCs. This improves blood flow and decreases hemolytic anemia." [] comment: Is an accepted therapy for adults and pediatric patients 12 years of age and older with sickle cell disease. synonym: "GBT-440" EXACT [] synonym: "GBT440" EXACT [] synonym: "Oxbryta" EXACT [] xref: NCIT:C152089 is_a: CHEBI:23888 ! Drug is_a: SCDO:0000922 ! Preventative Therapeutics property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C152089 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000381 xsd:string [Term] id: NCIT:C15238 name: Gene Therapy def: "Application of genetic material (usually DNA) into cells in order to permanently correct an inherited disease or acquired disease." [] synonym: "DNA Therapy" EXACT [] xref: NCIT:C15238 is_a: SCDO:0000301 ! Curative Therapeutics relationship: SCDO:1000015 DOID:4 ! modifies Disease relationship: SCDO:1000018 DOID:1584 ! treats Acute Chest Syndrome relationship: SCDO:1000018 EUPATH:0000215 ! treats Severe Anemia relationship: SCDO:1000018 NCIT:C155310 ! treats Sickle Cell Disease-SD relationship: SCDO:1000018 SCDO:0000518 ! treats Hemoglobin Barts Hydrops Fetalis property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C15238 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001344 xsd:string [Term] id: NCIT:C15320 name: Study Design def: "A plan detailing how a study will be performed in order to represent the phenomenon under examination, to answer the research questions that have been asked, and defining the methods of data analysis. Study design is driven by research hypothesis being posed, study subject/population/sample available, logistics/resources: technology, support, networking, collaborative support, etc." [] synonym: "Experiment Design" EXACT [] synonym: "Experimental Design" EXACT [] synonym: "Research Design" EXACT [] synonym: "STYPE" EXACT [] xref: NCIT:C15320 is_a: SCDO:0300005 ! Research Characteristics property_value: SCDO:0000303 "Review current sub-classes in light of and include relevant classes from \"EDDA Study Designs Taxonomy\" to be added as sub-classes." xsd:string property_value: SCDO:0000340 https://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C15320 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001115 xsd:string [Term] id: NCIT:C154481 name: Adult Sickle Cell Quality-of-Life Measurement Information System (ASCQ-Me) def: "A patient-reported outcome measurement system designed to evaluate and monitor the physical, mental, and social well-being of adults with sickle cell disease." [] comment: It includes questions that enable adults with SCD to describe their functioning and well-being. Its measures are available as 5 item short forms or can be administered as computer adaptive tests. Measures include: Pain Impact; Stiffness Impact (5-item short form); Sleep Impact; Social Functioning Impact; Emotional Impact; Pain Episodes; and Pain Frequency. synonym: "Adult Sickle Cell Quality of Life Measurement Information System" EXACT [] synonym: "Adult Sickle Cell Quality-of-Life Measurement Information System" EXACT [] synonym: "ASCQ-Me" EXACT [] xref: NCIT:C154481 is_a: SCDO:0000952 ! Quality of Life in Sickle Cell Disease Measure relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age property_value: http://purl.org/dc/elements/1.1/source https://www.phenxtoolkit.org/protocols/view/820201 property_value: http://purl.org/dc/elements/1.1/source "Keller SD, Yang M, Treadwell MJ, Werner EM, Hassell KL (2014).Patient reports of health outcome for adults living with sickle cell disease: development and testing of the ASCQ-Me item banks. Health and Quality of Life Outcomes,12,125." xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C154481 property_value: SCDO:0000470 "Cross-cultural adaptation underway in Brazil. ASCQ-Me's development using modern measurement theory facilitates cross cultural adaptation." xsd:string property_value: SCDO:0000479 "PhenX protocol: Adult Sickle Cell Quality of Life Measurement Information System (ASCQ-Me) #820201" xsd:string property_value: SCDO:0000481 "Self" xsd:string property_value: SCDO:0000482 "Clinic Patients (Adults with SCD)" xsd:string property_value: SCDO:0000484 "Spanish; Portuguese" xsd:string property_value: SCDO:0000486 "This measure can be used to track health status and treatment outcomes and understand the health care requirements of patients with chronic conditions, such as sickle cell disease (SCD)." xsd:string property_value: SCDO:0001033 "Rigor in development, using modern measurement theory and aligned with PROMIS measurement development." xsd:string property_value: SCDO:0001222 "18 years and older" xsd:string property_value: SCDO:0001335 "no" xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000027 xsd:string [Term] id: NCIT:C154865 name: Cerebral Blood Flow Assay def: "An evaluation of the perfusion of blood through the brain." [] synonym: "Cerebral Blood Flow Assessment" EXACT [] synonym: "Cerebral Blood Flow Measurement" EXACT [] synonym: "Stroke Risk Test" EXACT [] xref: NCIT:C154865 is_a: SCDO:0000208 ! Cerebral Function Assay is_a: SCDO:1000316 ! Blood Flow Test property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C154865 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000204 xsd:string [Term] id: NCIT:C155310 name: Sickle Cell Disease-SD def: "A variant of sickle cell disease due to heterozygosity for hemoglobin S and hemoglobin D mutations. Patients present with the symptoms of sickle cell disease but the symptoms are less frequent and severe compared to patients with hemoglobin SS disease." [] synonym: "Haemoglobin S-D Disease" EXACT [] synonym: "Hb SD-Disease" EXACT [] synonym: "Hemoglobin S-D Disease" EXACT [] synonym: "Hemoglobin Sickle D Disease" EXACT [] synonym: "Sickle Cell Disease SD" EXACT [] synonym: "Sickle Cell Hemoglobin D Disease" EXACT [] synonym: "Sickle Cell-Haemoglobin D Disease" EXACT [] synonym: "Sickle Cell-Hemoglobin D Disease" EXACT [] xref: NCIT:C155310 is_a: SCDO:0008262 ! Structural Hemoglobinopathy is_a: SCDO:1000163 ! Compound Heterozygous Sickle Cell Disease relationship: SCDO:0000663 NCIT:C15709 ! diagnosed using tool Genetic Testing relationship: SCDO:0000663 NCIT:C79903 ! diagnosed using tool Blood Smear relationship: SCDO:0000663 SCDO:0000547 ! diagnosed using tool Hemoglobin Profile Assay relationship: SCDO:0000664 NCIT:C15238 ! treated with Gene Therapy relationship: SCDO:0000664 NCIT:C258 ! treated with Antibiotic relationship: SCDO:0000664 SCDO:0000147 ! treated with Blood Transfusion relationship: SCDO:0000664 SCDO:0000506 ! treated with Hematopoietic Stem Cell Transplantation relationship: SCDO:0000664 SCDO:0000580 ! treated with Hydroxyurea relationship: SCDO:0000664 SCDO:0000771 ! treated with Morphine relationship: SCDO:0000664 SCDO:0001329 ! treated with Folic Acid relationship: SCDO:0000664 SCDO:0008888 ! treated with Iron Chelation Therapy relationship: SCDO:0001364 SCDO:1000243 ! has mode of inheritance Autosomal Recessive Compound Heterozygous relationship: SCDO:1000172 SCDO:1000054 ! has causal genotype Hemoglobin Genotype SD relationship: SCDO:1000210 SCDO:1000039 ! has causal or contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000210 SCDO:1000108 ! has causal or contributing genetic variation HBB, SER9TYR relationship: SCDO:1000210 SCDO:1000109 ! has causal or contributing genetic variation HBB, GLU121GLN relationship: SCDO:1000210 SCDO:1000110 ! has causal or contributing genetic variation HBB, GLY16ARG relationship: SCDO:1000210 SCDO:1000111 ! has causal or contributing genetic variation HBB, ASN19LYS relationship: SCDO:1000210 SCDO:1000112 ! has causal or contributing genetic variation HBB, GLU22GLN relationship: SCDO:1000210 SCDO:1000113 ! has causal or contributing genetic variation HBB, GLU22VAL relationship: SCDO:1000210 SCDO:1000114 ! has causal or contributing genetic variation HBB, THR87LYS relationship: SCDO:1000210 SCDO:1000115 ! has causal or contributing genetic variation HBB, GLU121ALA relationship: SCDO:1000223 SCDO:0000514 ! has causal molecular phenotype Hemoglobin S relationship: SCDO:1000223 SCDO:1000007 ! has causal molecular phenotype Hemoglobin D property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C155310 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001060 xsd:string [Term] id: NCIT:C155312 name: Sickle Cell Chronic Lung Disease def: "A pulmonary complication of sickle cell disease characterized by radiographic interstitial abnormalities and impaired pulmonary function. In severe cases, pulmonary hypertension is present." [] synonym: "Sickle Cell Chronic Restrictive Lung Disease" EXACT [] xref: NCIT:C155312 is_a: SCDO:0000232 ! Chronic Restrictive Lung Disease is_a: SCDO:0000895 ! Phenotype of Sickle Cell Disease relationship: SCDO:0000663 NCIT:C18772 ! diagnosed using tool Personal Medical History relationship: SCDO:0000663 SCDO:0000071 ! diagnosed using tool Arterial Blood Gas Test relationship: SCDO:0000663 SCDO:0000217 ! diagnosed using tool Chest X-Ray relationship: SCDO:0000663 SCDO:0000898 ! diagnosed using tool Physical Examination relationship: SCDO:0000663 SCDO:0000942 ! diagnosed using tool Pulmonary Function Test relationship: SCDO:0000664 SCDO:0000147 ! treated with Blood Transfusion relationship: SCDO:0000664 SCDO:0000580 ! treated with Hydroxyurea relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: http://purl.org/dc/elements/1.1/source "Powars et al 1988 Medicine (Baltimore), Knight-Madden et al 2010 Lung." xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C155312 property_value: SCDO:0000662 "Restricive lung disease often associated with chest pain and hypoxemia. May also be associated with pulmonary hypertension." xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001046 xsd:string [Term] id: NCIT:C155932 name: Global Mental Status Screener - Older Children and Adolescents def: "A clinician-assessed rating of psychological and social functioning in children ages six to seventeen that was developed by Shaffer et al. in 1983. The numerical scale, which is an adaptation of the adult Global Assessment Scale (GAS) developed by Endicott et al in 1976, is scored from 0 to 100 based on behaviors and life situations that are applicable to children." [] synonym: "CGAS" EXACT [] synonym: "Children’s Global Assessment Scale" EXACT [] synonym: "Children’s Global Assessment Scale (CGAS)" EXACT [] xref: NCIT:C155932 is_a: SCDO:0000455 ! Global Mental Status Screener property_value: http://purl.org/dc/elements/1.1/source https://www.phenxtoolkit.org/protocols/view/130703 property_value: SCDO:0000340 "details" property_value: SCDO:0000479 "PhenX protocol: Global Mental Status Screener - Older Children and Adolescents #130703" xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000334 xsd:string [Term] id: NCIT:C156541 name: Separated def: "A person who is separated from their spouse, whether or not there is a legal arrangement." [] xref: NCIT:C156541 is_a: NCIT:C91106 ! Clinical or Research Assessment Answer property_value: SCDO:0000340 NCIT:C156541 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000677 xsd:string [Term] id: NCIT:C15709 name: Genetic Testing def: "The process of isolating and testing the DNA of an embryo or a person to detect the presence of genetic alterations or defects that may predispose to the future development of a disease or disorder." [] synonym: "Genetic Analysis" EXACT [] synonym: "Genetic Examination" EXACT [] synonym: "Genetic Test" EXACT [] xref: NCIT:C15709 is_a: SCDO:0000448 ! Genetic Technique property_value: SCDO:0000303 "Note: \"Genetic Test\" is a SNOMED CT term.\n\nInclude NCIT's \"Presymptomatic Testing\" as a sub-class?" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C15709 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000449 xsd:string [Term] id: NCIT:C15900 name: Lifestyle Therapy def: "Therapy dealing with lifestyle management and includes: behavioral and dietary modifications, exercise, stress management, and addiction control. This therapy must be used as major adjunct to 'standard care' or be applied as alternative treatment to conventional medicine practices." [] xref: NCIT:C15900 is_a: SCDO:0001152 ! Therapeutics relationship: SCDO:1000018 HP:0000819 ! treats Diabetes Mellitus relationship: SCDO:1000018 HP:0002870 ! treats Obstructive Sleep Apnea property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C15900 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000006 xsd:string [Term] id: NCIT:C1643 name: Polyvalent Pneumococcal Vaccine def: "An polyvalent vaccine used to prevent infection by the bacterium Streptococcus pneumoniae. Pneumococcal polyvalent vaccine contains highly purified capsular antigens from the 23 most prevalent or invasive pneumococcal types of Streptococcus pneumoniae to ensure cross-protection. Following vaccination, protective capsular type-specific antibody levels typically develop by the third week; serotype-specific antibody levels generally decline after 5-10 years." [] synonym: "Pneumococcal Polysaccharide Vaccine" EXACT [] synonym: "Pneumococcal Polyvalent Vaccine" EXACT [] synonym: "PPSV" EXACT [] xref: NCIT:C1643 is_a: VO:0000675 ! Streptococcus Pneumoniae Vaccine property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C1643&jump_to_nav=true xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000915 xsd:string [Term] id: NCIT:C164339 name: Date of Diagnosis def: "The date on which a diagnosis of disease was made." [] xref: NCIT:C164339 is_a: SCDO:1000538 ! Diagnosis Temporal Observable property_value: SCDO:0000340 NCIT:C164339 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000557 xsd:string [Term] id: NCIT:C16453 name: Community def: "A set of people with some shared element. The substance of shared element varies widely, from geography to a situation to interest to lives and values. The term is widely used to evoke sense of collectivity." [] xref: NCIT:C16453 is_a: SCDO:0001082 ! Social Environment property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C16453 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000266 xsd:string [Term] id: NCIT:C16495 name: Demographic Factor def: "The statistical characterization of human populations or segments of human populations (e.g., characterization by age, sex, race, or income)." [] synonym: "Demographic Factors" EXACT [] synonym: "Demographics" EXACT [] synonym: "Demography" EXACT [] synonym: "Population Studies / Demography" EXACT [] xref: NCIT:C16495 is_a: NCIT:C19332 ! Personal Attribute property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C16495 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000468 xsd:string [Term] id: NCIT:C16564 name: Ethnic Group def: "A social group characterized by a distinctive social and cultural tradition that is maintained from generation to generation. Members share a common history and origin and a sense of identification with the group. They have similar and distinctive features in their lifestyle habits and shared experiences. They often have a common genetic heritage which may be reflected in their experience of health and disease." [] synonym: "Ethnic Origin" EXACT [] synonym: "Ethnic Origins" EXACT [] synonym: "Ethnicity" EXACT [] xref: NCIT:C16564 is_a: SCDO:0001551 ! Ethnolinguistics relationship: SCDO:0001297 NCIT:C17049 ! has essential measure Race property_value: SCDO:0000303 "Include other Ethnic groups that are sub-classes of \"Ethnic Group\" in ERO." xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C16564 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001298 xsd:string [Term] id: NCIT:C16567 name: Exercise def: "Activity that requires physical or mental exertion, especially when performed to develop or maintain fitness." [] xref: NCIT:C16567 is_a: NCIT:C15900 ! Lifestyle Therapy is_a: SCDO:0000487 ! Health Behaviour relationship: SCDO:1000018 HP:0000842 ! treats Hyperinsulinemia relationship: SCDO:1000018 HP:0000855 ! treats Insulin Resistance relationship: SCDO:1000018 HP:0000938 ! treats Osteopenia relationship: SCDO:1000018 HP:0000939 ! treats Osteoporosis relationship: SCDO:1000018 HP:0001382 ! treats Joint Hypermobility relationship: SCDO:1000018 HP:0002076 ! treats Migraine relationship: SCDO:1000018 HP:0002808 ! treats Kyphosis relationship: SCDO:1000018 HP:0003611 ! treats Dyslipidemia relationship: SCDO:1000018 SCDO:0001168 ! treats Transient Monocular Blindness property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C16567 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001305 xsd:string [Term] id: NCIT:C16576 name: Female def: "A person who belongs to the sex that normally produces ova. The term is used to indicate biological sex distinctions, or cultural gender role distinctions, or both." [] xref: NCIT:C16576 is_a: NCIT:C91106 ! Clinical or Research Assessment Answer property_value: SCDO:0000340 NCIT:C16576 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000560 xsd:string [Term] id: NCIT:C16612 name: Gene def: "A functional unit of heredity which occupies a specific position on a particular chromosome and serves as the template for a product that contributes to a phenotype or a biological function." [] xref: NCIT:C16612 is_a: SCDO:0005722 ! Genetic Structure property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C16612 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000359 xsd:string [Term] id: NCIT:C16632 name: Geographic Area def: "Any demarcated area of the Earth; may be determined by both natural and human boundaries." [] synonym: "Geographic Location" EXACT [] synonym: "Geographic Region" EXACT [] xref: NCIT:C16632 is_a: NCIT:C19332 ! Personal Attribute property_value: SCDO:0000340 https://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C16632&jump_to_nav=true property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000367 xsd:string [Term] id: NCIT:C16676 name: Hemoglobin def: "The red respiratory protein of erythrocytes, consisting of approximately 3.8% heme and 96.2% globin (64.5 KD), which as oxyhemoglobin (HbO2) transports oxygen from the lungs to the tissues where the oxygen is readily released and HbO2 becomes Hb." [] synonym: "Hb" EXACT [] synonym: "Hgb" EXACT [] xref: NCIT:C16676 is_a: NCIT:C26548 ! Gene Product property_value: SCDO:0000340 NCIT:C16676 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0009453 xsd:string [Term] id: NCIT:C16723 name: Immunological Assay def: "Laboratory test involving interaction of antigens with specific antibodies." [] synonym: "Immunoassay" EXACT [] synonym: "Immunological Laboratory Method" EXACT [] synonym: "Immunology Test" EXACT [] xref: NCIT:C16723 is_a: SCDO:0000120 ! Biochemical Assay property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C16723 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000617 xsd:string [Term] id: NCIT:C16779 name: Language def: "A systematic means of communicating by the use of sounds, symbols, or gestures." [] xref: NCIT:C16779 is_a: SCDO:0001551 ! Ethnolinguistics property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C16779 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0005364 xsd:string [Term] id: NCIT:C16809 name: Magnetic Resonance Imaging def: "Imaging that uses radiofrequency waves and a strong magnetic field rather than x-rays to provide amazingly clear and detailed pictures of internal organs and tissues. The technique is valuable for the diagnosis of many pathologic conditions, including cancer, heart and vascular disease, stroke, and joint and musculoskeletal disorders." [] synonym: "Magnetic Resonance Imaging Scan" EXACT [] synonym: "Magnetic Resonance Tomography" EXACT [] synonym: "MIR Scan" EXACT [] synonym: "MRI" EXACT [] synonym: "MRT" EXACT [] synonym: "NMR Imaging" EXACT [] synonym: "NMRI" EXACT [] synonym: "Nuclear Magnetic Resonance Imaging" EXACT [] xref: NCIT:C16809 is_a: OBI:0000185 ! Imaging Assay relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C16809 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000708 xsd:string [Term] id: NCIT:C168823 name: Year of Diagnosis def: "The year when a diagnosis was assigned to an individual's condition." [] xref: NCIT:C168823 is_a: SCDO:1000538 ! Diagnosis Temporal Observable property_value: SCDO:0000340 NCIT:C168823 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000567 xsd:string [Term] id: NCIT:C17004 name: Genetic Polymorphism def: "The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site to large nucleotide sequences visible at a chromosomal level." [] xref: NCIT:C17004 is_a: SCDO:0001369 ! Genetic Variation property_value: SCDO:0000340 NCIT:C17004 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0004047 xsd:string [Term] id: NCIT:C17047 name: Quality of Life def: "The subjective measurement of an individual's sense of well-being and ability to enjoy life. The concept holds varying meanings for different people and may evolve over time. For some individuals it implies autonomy, empowerment, capability, and choice; for others, security, social integration, or freedom from stress or illness." [] synonym: "Health Related Quality of Life" EXACT [] synonym: "QOL" EXACT [] xref: NCIT:C17047 is_a: SCDO:0000950 ! Quality of Life and Care relationship: SCDO:1000005 DOID:4 ! modified by Disease relationship: SCDO:1000005 SCDO:0000746 ! modified by Mental Health relationship: SCDO:1000005 SCDO:0000900 ! modified by Physical Functioning relationship: SCDO:1000005 SCDO:0000948 ! modified by Quality of Health Care property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C17047&jump_to_nav=true property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000949 xsd:string [Term] id: NCIT:C17049 name: Race def: "An arbitrary classification of a taxonomic group that is a division of a species. It usually arises as a consequence of geographical isolation within a species and is characterized by shared heredity, physical attributes and behavior, and in the case of humans, by common history, nationality, or geographic distribution." [] synonym: "Racial Group" EXACT [] xref: NCIT:C17049 is_a: NCIT:C16495 ! Demographic Factor is_a: SCDO:1000157 ! Quality of Life Related Personal Attribute relationship: SCDO:0001297 NCIT:C16564 ! has essential measure Ethnic Group property_value: SCDO:0000303 "Different relevant racial groups need to be recorded. Perhaps as sub-classes of this class? \nThe PhenX protocol is U.S. specific. Is there one relevant to the African setting?" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C17049 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000962 xsd:string [Term] id: NCIT:C17230 name: Ultrasound Test def: "A technique in which high-frequency sound waves are bounced off internal organs and the echo pattern is converted into a 2 dimensional picture of the structures beneath the transducer." [] synonym: "Immaging by Ultrasonography" EXACT [] synonym: "Ultrasonography" EXACT [] synonym: "Ultrasound" EXACT [] synonym: "Ultrasound Imaging" EXACT [] xref: NCIT:C17230 is_a: OBI:0000185 ! Imaging Assay relationship: SCDO:1000192 OBI:0001098 ! uses diagnostic device Ultrasound Machine property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C17230 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000614 xsd:string [Term] id: NCIT:C17241 name: Urine Test def: "Laboratory analysis of urine, commonly used to aid in the diagnosis of disease or to detect the presence of a specific substance. It involves examination of the urine by physical or chemical means as well as microscopic examination that helps to screen for urinary tract infections, renal disease, and diseases of other organs, that result in abnormal metabolites (break-down products) appearing in the urine." [] synonym: "Urinalysis" EXACT [] synonym: "Urine Analysis" EXACT [] xref: NCIT:C17241 is_a: SCDO:0000902 ! Physiological Assay property_value: SCDO:0000303 "Other urine tests to be added as sub-classes? There are many in the NCIT." xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C17241 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001216 xsd:string [Term] id: NCIT:C173396 name: Cerebral Blood Flow Velocity def: "The rate of blood flow through the cerebral arteries." [] synonym: "CBF Velocity" EXACT [] synonym: "CBFV" EXACT [] synonym: "Transcranial Doppler Velocity" EXACT [] xref: NCIT:C173396 is_a: SCDO:0000213 ! Cerebrovascular Hemodynamics relationship: SCDO:1000190 SCDO:0001114 ! obtained via diagnostic tool Stroke Risk Test in Children with Sickle Cell Disease relationship: SCDO:1000190 SCDO:0001166 ! obtained via diagnostic tool Transcranial Doppler Ultrasonography property_value: SCDO:0000340 ConceptReport.jsp?dictionary=NCI:Thesaurus&ns=ncit&code=C173396 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000205 xsd:string [Term] id: NCIT:C17357 name: Gender def: "The assemblage of properties that distinguish people on the basis of the societal roles expected for the two sexes." [] xref: NCIT:C17357 is_a: NCIT:C16495 ! Demographic Factor property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C17357 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001341 xsd:string [Term] id: NCIT:C17655 name: Reproductive History def: "An account of all reproductive events and problems a person has experienced. An important aggregate factor in epidemiological studies of women's health. The concept usually includes the number and timing of pregnancies and their outcomes, the incidence of breast feeding, and may include age of menarche and menopause, regularity of menstruation, fertility, gynecological or obstetric problems, or contraceptive usage." [] xref: NCIT:C17655 is_a: NCIT:C18772 ! Personal Medical History property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C17655 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000346 xsd:string [Term] id: NCIT:C17873 name: Psychosocial Effect def: "Having to do with the physical, psychological, cognitive, and social consequences of disease, including stigmatization of persons affected." [] synonym: "Psychosocial Effects" EXACT [] synonym: "Psychosocial Effects/Treatment" EXACT [] xref: NCIT:C17873 is_a: SCDO:0000746 ! Mental Health property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C17873 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000939 xsd:string [Term] id: NCIT:C18133 name: Missense Mutation def: "A single base pair substitution that alters the genetic code in a way that produces an amino acid that is different from the usual amino acid at that position. Some missense mutations will alter the function of the protein." [] xref: NCIT:C18133 is_a: NCIT:C62200 ! Point Mutation property_value: SCDO:0000340 NCIT:C18133 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0004314 xsd:string [Term] id: NCIT:C18772 name: Personal Medical History def: "A record of a patient's background regarding health and the occurrence of disease events of the individual. In addition, personal medical history may be a variable in epidemiologic studies." [] synonym: "General Medical History" EXACT [] synonym: "Medical History" EXACT [] synonym: "Past Medical History" EXACT [] synonym: "PMH" EXACT [] xref: NCIT:C18772 is_a: NCIT:C19332 ! Personal Attribute is_a: SCDO:1000157 ! Quality of Life Related Personal Attribute property_value: SCDO:0000303 "Sub-classes in NCIT to be added here." xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C18772 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000891 xsd:string [Term] id: NCIT:C19228 name: Optical Instrument def: "An instrument used to measure an event involving emission, absorption, or refraction of light." [] xref: NCIT:C19228 is_a: OBI:0400169 ! Microscope property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C19228 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000837 xsd:string [Term] id: NCIT:C19296 name: Deletion Mutation def: "Any rearrangement to the genomic content that results in the loss of one or more nucleotides of DNA. Deletions are generally irreversible rearrangements. They may alter the reading frame of a gene, or may result in loss of large chromosomal regions." [] synonym: "Deletion Abnormality" EXACT [] xref: NCIT:C19296 is_a: IDOMAL:50000026 ! Mutation relationship: SCDO:1000015 NCIT:C26548 ! modifies Gene Product property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C19296 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001371 xsd:string [Term] id: NCIT:C19332 name: Personal Attribute def: "The distinguishing qualities or prominent aspects of an individual person." [] synonym: "Subject Characteristics" EXACT [] xref: NCIT:C19332 is_a: SCDO:0001000 ! SCDO property_value: SCDO:0000303 "Populate this class with demographic terms from PhenX and elsewhere. Some terms will be duplicated in QoL. -- -- Add these from PhenX?: -- - Acculturation -- - Residential History -- -- Also look at other sub-classes in NCIT." xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C19332 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000890 xsd:string [Term] id: NCIT:C19771 name: Molecular Profiling Assay def: "Analysis of the RNA expression pattern in a tissue sample using molecular techniques." [] synonym: "Expression Profiling" EXACT [] synonym: "Molecular Fingerprinting" EXACT [] synonym: "Molecular Profiling" EXACT [] xref: NCIT:C19771 is_a: SCDO:0000082 ! Diagnostic Technique, Method, Test or Assay property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C19771 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000768 xsd:string [Term] id: NCIT:C20197 name: Male def: "A person who belongs to the sex that normally produces sperm. The term is used to indicate biological sex distinctions, cultural gender role distinctions, or both." [] xref: NCIT:C20197 is_a: NCIT:C91106 ! Clinical or Research Assessment Answer property_value: SCDO:0000340 NCIT:C20197 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000559 xsd:string [Term] id: NCIT:C20629 name: Silent Mutation def: "A point mutation occurring within the protein-coding region of a gene, and which codes for the same amino acid as expected." [] synonym: "Exon Synonymous Mutation" EXACT [] synonym: "Exonic Synonymous Mutation" EXACT [] synonym: "Synonymous Mutation" EXACT [] xref: NCIT:C20629 is_a: NCIT:C62200 ! Point Mutation property_value: SCDO:0000340 NCIT:C20629 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0005439 xsd:string [Term] id: NCIT:C20711 name: SP1 Gene def: "This gene plays a role in transcriptional regulation and is involved in several signal transduction pathways." [] synonym: "SP1" EXACT [] synonym: "Sp1 Transcription Factor Gene" EXACT [] xref: NCIT:C20711 is_a: NCIT:C16612 ! Gene property_value: SCDO:0000340 https://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C20711 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000393 xsd:string [Term] id: NCIT:C25150 name: Age def: "How long something has existed; elapsed time since birth." [] synonym: "Aged" EXACT [] synonym: "Chronological Age" EXACT [] synonym: "Postnatal Age" EXACT [] xref: NCIT:C25150 is_a: NCIT:C16495 ! Demographic Factor is_a: SCDO:1000157 ! Quality of Life Related Personal Attribute property_value: SCDO:0000303 "Could add many sub-classes of \"Age\" from NCIT." xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C25150 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000030 xsd:string [Term] id: NCIT:C25191 name: Person Name def: "A word or group of words indicating the identity of a person usually consisting of a first (personal) name and a last (family) name with an optional middle name. In some cultural traditions the family name comes first." [] synonym: "Contact Name" EXACT [] synonym: "Individual's Name" EXACT [] synonym: "Name" EXACT [] synonym: "Name of Person" EXACT [] synonym: "Person.name" EXACT [] xref: NCIT:C25191 is_a: NCIT:C19332 ! Personal Attribute property_value: SCDO:0000340 "C25191" property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000859 xsd:string [Term] id: NCIT:C25298 name: Systolic Blood Pressure def: "The maximum pressure exerted into the systemic arterial circulation during the contraction of the left ventricle of the heart." [] synonym: "SYSBP" EXACT [] synonym: "systolic bp" EXACT [] synonym: "Systolic Pressure" EXACT [] xref: NCIT:C25298 is_a: CMO:0000003 ! Blood Pressure Measurement property_value: SCDO:0000340 NCIT:C25298 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000892 xsd:string [Term] id: NCIT:C25299 name: Diastolic Blood Pressure def: "The minimum pressure exerted into the systemic arterial circulation during cardiac ventricular relaxation and filling." [] synonym: "DIABP" EXACT [] synonym: "Diastolic Pressure" EXACT [] xref: NCIT:C25299 is_a: CMO:0000003 ! Blood Pressure Measurement property_value: SCDO:0000340 NCIT:C25299 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000735 "Vital Signs" xsd:string property_value: SCDO:1000739 "6" xsd:integer property_value: SCDO:1000910 SCDO:1000893 xsd:string [Term] id: NCIT:C25460 name: Consent def: "Permission to do something." [] xref: NCIT:C25460 is_a: NCIT:C19332 ! Personal Attribute is_a: SCDO:0007597 ! Descriptor of Consent property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C25460 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001466 xsd:string [Term] id: NCIT:C25464 name: deprecated Country def: "A collective generic term that refers here to a wide variety of dependencies, areas of special sovereignty, uninhabited islands, and other entities in addition to the traditional countries or independent states." [] xref: NCIT:C25464 is_a: SCDO:0000359 ! deprecated terms property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C25464 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0004140 xsd:string is_obsolete: true replaced_by: SCDO:0000792 [Term] id: NCIT:C25474 name: Data def: "A collection or single item of factual or reported information, derived from measurement or research, from which conclusions may be drawn." [] xref: NCIT:C25474 is_a: NCIT:C19332 ! Personal Attribute property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C25474 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0006670 xsd:string [Term] id: NCIT:C258 name: Antibiotic def: "Substances naturally produced by microorganisms or their derivatives that selectively target microorganisms not humans. Antibiotics kill or inhibit the growth of microorganisms by targeting components of the microbial cell absent from human cells, including bacterial cell walls, cell membrane, and 30S or 50S ribosomal subunits. These substances are used in the treatment of bacterial and other microbial infections." [] synonym: "Antibiotic Agents" EXACT [] synonym: "Antibiotic Drug" EXACT [] synonym: "Antibiotic Drugs" EXACT [] synonym: "Antibiotics" EXACT [] synonym: "Antimicrobial" EXACT [] synonym: "Antimicrobial Agent" EXACT [] xref: NCIT:C258 is_a: CHEBI:23888 ! Drug is_a: SCDO:0001133 ! Symptomatic Therapeutics relationship: SCDO:1000018 DOID:1584 ! treats Acute Chest Syndrome relationship: SCDO:1000018 EUPATH:0000215 ! treats Severe Anemia relationship: SCDO:1000018 HP:0000132 ! treats Menorrhagia relationship: SCDO:1000018 HP:0000388 ! treats Otitis Media relationship: SCDO:1000018 HP:0000999 ! treats Pyoderma relationship: SCDO:1000018 HP:0001061 ! treats Acne relationship: SCDO:1000018 HP:0001287 ! treats Meningitis relationship: SCDO:1000018 HP:0006689 ! treats Bacterial Endocarditis relationship: SCDO:1000018 HP:0008404 ! treats Nail Dystrophy relationship: SCDO:1000018 HP:0030049 ! treats Brain Abscess relationship: SCDO:1000018 HP:0030127 ! treats Endometriosis relationship: SCDO:1000018 HP:0100806 ! treats Sepsis relationship: SCDO:1000018 MP:0002412 ! treats Increased Susceptibility to Bacterial Infection relationship: SCDO:1000018 NCIT:C155310 ! treats Sickle Cell Disease-SD relationship: SCDO:1000018 NCIT:C95504 ! treats Hemoglobin H Disease relationship: SCDO:1000018 SCDO:0000088 ! treats Atopic Dermatitis relationship: SCDO:1000018 SCDO:0000812 ! treats Non-specific Acute Lower Respiratory Tract Episode relationship: SCDO:1000018 SCDO:0000840 ! treats Osteomyelitis relationship: SCDO:1000018 SCDO:0001073 ! treats Skin Rash relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C258 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000059 xsd:string [Term] id: NCIT:C26548 name: Gene Product def: "A protein, RNA or a complex that contains proteins and/or RNA." [] synonym: "Genome Encoded Entity" EXACT [] xref: NCIT:C26548 is_a: SCDO:0001000 ! SCDO relationship: SCDO:1000005 IDOMAL:50000026 ! modified by Mutation relationship: SCDO:1000005 NCIT:C19296 ! modified by Deletion Mutation relationship: SCDO:1000005 NCIT:C62200 ! modified by Point Mutation property_value: SCDO:0000303 "If additional gene products are included in the future, they can be categorised according to those below this term in the \"National Cancer Institute Thesaurus\" (NCIT)" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C26548 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001343 xsd:string [Term] id: NCIT:C26702 name: Ataxia def: "Lack of coordination of muscle movements resulting in the impairment or inability to perform voluntary activities. Causes include peripheral nerve disorders, posterior column injuries, cerebral and cerebellar disorders, basal ganglia disorders, and thalamic disorders." [] xref: NCIT:C26702 is_a: HP:0012638 ! Abnormal Nervous System Physiology relationship: SCDO:0000663 NCIT:C15709 ! diagnosed using tool Genetic Testing relationship: SCDO:0000663 NCIT:C16809 ! diagnosed using tool Magnetic Resonance Imaging relationship: SCDO:0000663 NCIT:C18772 ! diagnosed using tool Personal Medical History relationship: SCDO:0000663 OGMS:0000088 ! diagnosed using tool Patient Symptom Report relationship: SCDO:0000663 SCDO:0000133 ! diagnosed using tool Blood Test relationship: SCDO:0000664 SCDO:0000822 ! treated with Occupational Therapy relationship: SCDO:0000664 SCDO:0000903 ! treated with Physiotherapy relationship: SCDO:0000664 SCDO:0001129 ! treated with Supportive Therapeutics relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000303 "Perhaps add \"Cerebellar Ataxia\" subclass?" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C26702 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000087 xsd:string [Term] id: NCIT:C27088 name: Hyperbilirubinemia def: "Abnormally high level of bilirubin in the blood. Excess bilirubin is associated with jaundice." [] synonym: "High Blood Bilirubin Levels" EXACT [] xref: NCIT:C27088 is_a: HP:0032180 ! Abnormal Circulating Metabolite Concentration property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C27088 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0003118 xsd:string [Term] id: NCIT:C27222 name: Cerebral Aneurysm def: "A balloon type pouch or bulge in the wall of a cerebral blood vessel." [] synonym: "Brain Aneurysm" EXACT [] synonym: "Cerebral Artery Aneurysm" EXACT [] synonym: "Dilatation of the Cerebral Artery" EXACT [] synonym: "Intracranial Aneurysm" EXACT [] xref: NCIT:C27222 is_a: HP:0002060 ! Abnormality of the Cerebrum relationship: SCDO:0000663 NCIT:C16809 ! diagnosed using tool Magnetic Resonance Imaging relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care property_value: SCDO:0000340 "details" property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000202 xsd:string [Term] id: NCIT:C28407 name: National Origin def: "System of classification based on nation from which a person originates, regardless of the nation in which he/she currently resides." [] synonym: "Birth Country" EXACT [] synonym: "Country of Birth" EXACT [] synonym: "Country of Origin" EXACT [] xref: NCIT:C28407 is_a: NCIT:C16495 ! Demographic Factor is_a: SCDO:0001090 ! Socioeconomic Factors property_value: SCDO:0000303 "Include list of nations below." xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C28407 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000792 xsd:string [Term] id: NCIT:C28421 name: Sex def: "The totality of characteristics of reproductive structure, functions, phenotype, and genotype, differentiating the male from the female organism." [] synonym: "Participant Sex" EXACT [] synonym: "Participant's Sex" EXACT [] synonym: "Respondent's Sex" EXACT [] synonym: "Sex of Participant" EXACT [] xref: NCIT:C28421 is_a: NCIT:C16495 ! Demographic Factor is_a: SCDO:0000122 ! Biological Disease Modifier property_value: SCDO:0000340 NCIT:C28421 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000671 xsd:string [Term] id: NCIT:C28516 name: Sickle Cell Dactylitis def: "A severe acute inflammatory response affecting the hands and feet of individuals with sickle cell disease, sickle cell-hemoglobin C disease or sickle cell-beta-thalassemia. It is caused by vaso-occlusive episodes leading to ischemia and finally infarction of the distal portions of the extremities. Clinical signs of pain, swelling and tenderness of digits usually begin in early childhood and may be the initial manifestations of sickle cell anemia. Clinical course is self-limited with instances typically lasting a few weeks and occurring during sickling crises. An initial episode before the age of 1 strongly correlates with a more severe disease course." [] xref: NCIT:C28516 is_a: HP:0002715 ! Abnormality of the Immune System is_a: SCDO:0001023 ! SCD Related Pain relationship: SCDO:1000202 SCDO:0008623 ! caused by Vaso-Occlusion relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C28516 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000477 xsd:string [Term] id: NCIT:C2890 name: Bacterial Infection def: "An acute infectious disorder caused by gram positive or gram negative bacteria. Representative examples include pneumococcal, streptococcal, salmonella and meningeal infections." [] xref: NCIT:C2890 is_a: IDO:0000586 ! Infection relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000303 "Perhaps use as Disease Modifier?" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C2890 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000100 xsd:string [Term] id: NCIT:C2905 name: Bone Marrow Hyperplasia def: "Increase in the number of hematopoietic cells in the bone marrow. It may involve all or individual hematopoietic cell lines." [] synonym: "Hyperplasia of Bone Marrow" EXACT [] synonym: "Marrow Hyperplasia" EXACT [] xref: NCIT:C2905 is_a: HP:0001871 ! Abnormality of Blood and Blood-Forming Tissues relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C2905 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0007438 xsd:string [Term] id: NCIT:C29091 name: Hepatitis B Vaccine def: "A non-infectious mixture containing recombinant hepatitis B surface antigen (HBsAg) in a liquid vehicle. Immunization with the hepatitis B vaccine induces the formation of specific anti-hepatitis B antibodies and an active immunity against hepatitis B infection." [] synonym: "ENGERIX-B" EXACT [] synonym: "Hepatitis B Vaccine (Recombinant)" EXACT [] synonym: "Recombinant Hepatitis B Vaccine" EXACT [] synonym: "RECOMBIVAX HB" EXACT [] xref: NCIT:C29091 is_a: VO:0000001 ! Vaccine relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C29091 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0008062 xsd:string [Term] id: NCIT:C29107 name: IV fluids def: "A sterile liquid preparation infused into a vein. IV fluid is prescribed as a replacement of fluid, electrolytes, calories, vitamins, and other nutritional substances. In addition, IV fluids are used to administer blood products and medications such as chemotherapy. Examples of IV fluids include Normal Saline, Ringers Solution, and Lactated Ringers Solution." [] synonym: "Intravenous Fluid" EXACT [] xref: NCIT:C29107 is_a: SCDO:0000922 ! Preventative Therapeutics relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C29107 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0005247 xsd:string [Term] id: NCIT:C2959 name: Complication def: "Any disease or disorder that occurs during the course of, or because of, another disease, treatment, or procedure." [] synonym: "Complications" EXACT [] synonym: "Medical Complication" EXACT [] xref: NCIT:C2959 is_a: HP:0000118 ! Abnormal Phenotype property_value: SCDO:0000340 https://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C2959d property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000384 xsd:string [Term] id: NCIT:C29719 name: Smoking History def: "A record of an individual's background in regard to smoking tobacco. This would include such factors as start date, end date (if applicable), number of cigarette smoked, attempts to quit, and others." [] synonym: "Tobacco Smoking History" EXACT [] xref: NCIT:C29719 is_a: SCDO:0001120 ! Substance Use History property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C29719 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001081 xsd:string [Term] id: NCIT:C30142 name: History of Transfusion def: "An account of all experiences related to the receipt of blood, WBC, platelets, and/or other blood components." [] synonym: "Transfusion History" EXACT [] xref: NCIT:C30142 is_a: NCIT:C18772 ! Personal Medical History property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C30142 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000569 xsd:string [Term] id: NCIT:C3245 name: Fungal Infection def: "An infection caused by a fungus." [] xref: NCIT:C3245 is_a: IDO:0000586 ! Infection property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C3245&jump_to_nav=true property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000349 xsd:string [Term] id: NCIT:C3439 name: Viral Infection def: "Any disease caused by a virus." [] synonym: "Viral Disease" EXACT [] synonym: "Virus Disease" EXACT [] xref: NCIT:C3439 is_a: IDO:0000586 ! Infection relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000303 "Perhaps use as Disease Modifier?\n\nAdd these sub-classes:\nHepatitis C Infection (term in NCIT)\nHepatitis B Infection (term in NCIT)\nHIV Infection (term in NCIT)" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C3439 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001233 xsd:string [Term] id: NCIT:C34465 name: Cholecystitis def: "An acute or chronic inflammation involving the gallbladder wall. It may be associated with the presence of gallstones." [] xref: NCIT:C34465 is_a: HP:0025031 ! Abnormality of the Digestive System relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C34465 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0007856 xsd:string [Term] id: NCIT:C34887 name: Peri-Operative Pain def: "A sensation of discomfort secondary to surgery." [] synonym: "Perioperative Pain" EXACT [] synonym: "Post Surgery Pain" EXACT [] synonym: "Post-Operative Pain" EXACT [] synonym: "Postoperative Pain" EXACT [] xref: NCIT:C34887 is_a: SCDO:0000851 ! Pain property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C34887 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000451 xsd:string [Term] id: NCIT:C34941 name: Pregnancy Complication def: "The co-occurrence of pregnancy and a disease. The disease may precede or follow conception and it may or may not have a deleterious effect on the pregnant woman or fetus." [] synonym: "Complication Related to Pregnancy" EXACT [] xref: NCIT:C34941 is_a: NCIT:C2959 ! Complication property_value: SCDO:0000340 https://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C34941 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000399 xsd:string [Term] id: NCIT:C35069 name: Thalassemia def: "An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." [] xref: NCIT:C35069 is_a: SCDO:0007192 ! Quantitative Hemoglobinopathy relationship: SCDO:0000663 NCIT:C15709 ! diagnosed using tool Genetic Testing relationship: SCDO:0000663 SCDO:0000547 ! diagnosed using tool Hemoglobin Profile Assay relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives property_value: SCDO:0000340 NCIT:C35069 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001144 xsd:string [Term] id: NCIT:C35146 name: Chronic Cholecystitis def: "Cholecystitis that is persistent and long-standing." [] xref: NCIT:C35146 is_a: NCIT:C34465 ! Cholecystitis is_a: SCDO:0001334 ! Chronic Phenotype relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C35146 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0009201 xsd:string [Term] id: NCIT:C35152 name: Acute Cholecystitis def: "Acute inflammation of the gallbladder." [] xref: NCIT:C35152 is_a: NCIT:C34465 ! Cholecystitis is_a: SCDO:1000000 ! Acute Phenotype relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C35152 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0008927 xsd:string [Term] id: NCIT:C35372 name: Ascending Cholangitis def: "Acute infection of the bile ducts caused by bacteria ascending from the small intestine." [] xref: NCIT:C35372 is_a: HP:0025031 ! Abnormality of the Digestive System relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C35372 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0008766 xsd:string [Term] id: NCIT:C35447 name: Osteonecrosis of the Femoral Head def: "Necrotic changes in the bone tissue of the femoral head due to interruption of blood supply." [] synonym: "Avascular Necrosis of Femoral Head" EXACT [] synonym: "Avascular Necrosis of the Capital Femoral Epiphysis" EXACT [] synonym: "Avascular Necrosis of the Femoral Head" EXACT [] synonym: "Avascular Necrosis of the Head of Femur" EXACT [] synonym: "ONFH" EXACT [] xref: NCIT:C35447 is_a: HP:0010885 ! Osteonecrosis relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000303 "Add description. -- See HPO term \"Avascular necrosis of the capital femoral epiphysis\". -- -- Perhaps add \"Bone decompression by drilling\" to therapeutics and link to it with \"is treated with" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C35447 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000842 xsd:string [Term] id: NCIT:C3671 name: Injury def: "Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity." [] synonym: "Trauma" EXACT [] synonym: "Wound" EXACT [] xref: NCIT:C3671 is_a: HP:0000118 ! Abnormal Phenotype property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C3671 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000435 xsd:string [Term] id: NCIT:C38060 name: Eye Examination def: "A test performed by an ophthalmologist or optometrist assessing vision and ability to focus on and discern objects, as well as other tests and examinations pertaining to the eyes." [] synonym: "Eye Exam" EXACT [] xref: NCIT:C38060 is_a: SCDO:0000898 ! Physical Examination property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C38060 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001313 xsd:string [Term] id: NCIT:C38085 name: Pulse Oximetry def: "A non-invasive method that provides estimates of arterial oxyhemoglobin saturation by utilizing selected wavelengths of light to determine the saturation of oxyhemoglobin." [] xref: NCIT:C38085 is_a: SCDO:0000942 ! Pulmonary Function Test property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C38085 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000351 xsd:string [Term] id: NCIT:C38141 name: Pneumococcal 7-Valent Conjugate Vaccine def: "An active immunizing agent used to prevent infection by the bacterium Streptococcus pneumoniae. Pneumococcal 7-valent conjugate vaccine consists of a solution of saccharides of the capsular antigens of Streptococcus serotypes 4, 6B, 9V, 14, 18C, 19F, and 23F individually conjugated to diphtheria CRM 197 protein." [] synonym: "7 Valent PncOMPC Vaccine" EXACT [] synonym: "7-Valent PncOMPC Vaccine" EXACT [] synonym: "Heptavalent Pneumococcal Conjugate Vaccine" EXACT [] synonym: "PCV 7" EXACT [] synonym: "PCV7 Vaccine" EXACT [] synonym: "Pneumococcal 7-Valent Conjugate Vaccine (Diphtheria CRM197 Protein)" EXACT [] synonym: "Prevenar" EXACT [] synonym: "Prevnar" EXACT [] synonym: "Seven Valent Pneumococcal PS Meningococcal OMPC Conjugate Vaccine" EXACT [] synonym: "Seven-Valent Pneumococcal PS-Meningococcal OMPC Conjugate Vaccine" EXACT [] xref: NCIT:C38141 is_a: NCIT:C97123 ! Conjugate Pneumococcal Vaccine property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C38141 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000911 xsd:string [Term] id: NCIT:C3833 name: Asymptomatic def: "Without clinical signs or indications that raise the possibility of a particular disorder or dysfunction." [] synonym: "No Symptoms" EXACT [] xref: NCIT:C3833 is_a: OGMS:0000023 ! Phenotype property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C3833 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0004802 xsd:string [Term] id: NCIT:C38698 name: Hyperviscosity def: "An increase in the viscosity of blood resulting from an increase in the proportion of cellular elements of the blood, a change in the mechanical properties of the cellular elements of the blood, and/or an alteration in plasma viscosity." [] synonym: "Blood Hyperviscosity" EXACT [] synonym: "Hypercoagulability" EXACT [] synonym: "Thrombophilia" EXACT [] xref: NCIT:C38698 is_a: HP:0001871 ! Abnormality of Blood and Blood-Forming Tissues relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C38698 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0002771 xsd:string [Term] id: NCIT:C3890 name: Hypoxia def: "A decrease in the amount of oxygen in the body. Symptoms range from mild (impaired judgment, memory loss, impaired motor coordination) to severe (seizures and coma). In SCD patients, this is considered as saturated oxygen < 95% on air." [] xref: NCIT:C3890 is_a: HP:0002086 ! Abnormality of the Respiratory System relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000303 "Have merged the definition of hypoxia from NCIT and the Tanzanian Management Guidelines. Not sure if the SaO2 value is specific to SCD patients - please get a clinician to review.\n\nThis is a symptom of acute chest syndrome." xsd:string property_value: SCDO:0000340 NCIT:C3890 property_value: SCDO:0000340 "SCD Management guidelines - Tanzania" xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0004183 xsd:string [Term] id: NCIT:C39547 name: Treatment Efficacy def: "The probability of benefit to individuals in a defined population from a medical technology applied for a given medical problem under ideal conditions of use. Efficacy is a measure of effect of therapy among appropriate patients in whom treatment is tolerated and effectively administered, under the condition of sufficient patients' compliance, usually determined in randomized trials." [] synonym: "Clinical Efficacy" EXACT [] xref: NCIT:C39547 is_a: NCIT:C43646 ! Association property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C39547 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000156 xsd:string [Term] id: NCIT:C39796 name: Ethics def: "The philosophical study of moral values and rules. Ethics is a general term for what is often described as the \"science of morality\". The Western tradition of ethics is sometimes called moral philosophy. This is one of the three major branches of philosophy, alongside metaphysics and logic." [] synonym: "Moral Philosophy" EXACT [] synonym: "Natural Law" EXACT [] xref: NCIT:C39796 is_a: SCDO:0006339 ! Research property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C39796 property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D004989 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0300001 xsd:string [Term] id: NCIT:C40438 name: Beck Depression Inventory-II (BDI-II) def: "The BDI-II is the most widely used instrument for measuring depression. It consists of 21 items to assess the intensity of depression in clinical and normal patients. Each item is a list of four statements arranged in increasing severity about a particular symptom of depression, and rated on a scale of 0 to 3." [] synonym: "BDI-II" EXACT [] synonym: "Beck Depression Inventory" EXACT [] synonym: "Beck Depression Inventory-II" EXACT [] xref: NCIT:C40438 is_a: SCDO:0000953 ! Quality of Life Measure is_a: SCDO:1000297 ! Quality of Life and Care Diagnostic Instrument property_value: SCDO:0000340 "Beck A.T., Ward C. H., Mendelson M., Mock J., & Erbaugh J. (1961) An inventory for measuring depression. Archives of General Psychiatry, 4, 561-571." xsd:string property_value: SCDO:0000470 "Multiple countries and cultural groups" xsd:string property_value: SCDO:0000481 "Self" xsd:string property_value: SCDO:0000482 "Clinic Patients" xsd:string property_value: SCDO:0000484 "Spanish" xsd:string property_value: SCDO:0001222 "13 years and older" xsd:string property_value: SCDO:0001335 "yes" xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000103 xsd:string [Term] id: NCIT:C40978 name: Telephone Number def: "A sequence of decimal digits (0-9) that is used for identifying a destination telephone line or other device in a telephone network." [] synonym: "Phone" EXACT [] synonym: "Phone Number" EXACT [] synonym: "Telephone" EXACT [] xref: NCIT:C40978 is_a: NCIT:C19332 ! Personal Attribute property_value: SCDO:0000340 NCIT:C40978 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000881 xsd:string [Term] id: NCIT:C41129 name: deprecated Region def: "An area or portion of something with more or less definite boundaries designed or specified according to some established biological, administrative, economic, demographic, etc. criteria." [] xref: NCIT:C41129 is_a: SCDO:0000359 ! deprecated terms property_value: SCDO:0000303 "It didn't have sense to have this term as a sub-class of \"Major Area\", which has also been deprecated." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C41129 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0006934 xsd:string is_obsolete: true replaced_by: SCDO:1000367 [Term] id: NCIT:C42559 name: Degree Celsius def: "A unit of temperature of the temperature scale designed so that the freezing point of water is 0 degrees and the boiling point is 100 degrees at standard atmospheric pressure. The current official definition of the Celsius sets 0.01 C to be at the triple point of water and a degree to be 1/273.16 of the difference in temperature between the triple point of water and absolute zero. One degree Celsius represents the same temperature difference as one Kelvin." [] synonym: "C" EXACT [] synonym: "Celsius" EXACT [] synonym: "Celsius Degree" EXACT [] synonym: "Celsius Temperature" EXACT [] synonym: "Degree C" EXACT [] synonym: "Degree Centigrade" EXACT [] synonym: "Degrees C" EXACT [] synonym: "Degrees Celsius" EXACT [] xref: NCIT:C42559 is_a: UO:0000005 ! Temperature Unit property_value: SCDO:0000340 NCIT:C42559 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000713 xsd:string [Term] id: NCIT:C43646 name: Association def: "An association is a non-hierarchical, named relationship between a source and target concept that does not affect classification and is not inherited by child concepts during classification. Associations are bidirectional and have a stated inverse. Unlike roles, associations do not have a domain or range." [] xref: NCIT:C43646 is_a: SCDO:0001000 ! SCDO property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C43646&jump_to_nav=true property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0005031 xsd:string [Term] id: NCIT:C48660 name: NA def: "Determination of a value is not relevant in the current context." [] synonym: "Not Applicable" EXACT [] xref: NCIT:C48660 is_a: NCIT:C91106 ! Clinical or Research Assessment Answer property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000770 xsd:string [Term] id: NCIT:C49131 name: Diagnostic Histology Test def: "A diagnostic test used to examine and define microscopic tissue structure, composition, or etiology. The test results are often used by a clinician to diagnose disease or disordered function." [] synonym: "Histologic Test" EXACT [] xref: NCIT:C49131 is_a: SCDO:0000902 ! Physiological Assay property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C49131&jump_to_nav=true property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0004740 xsd:string [Term] id: NCIT:C49674 name: Breaths per Minute def: "The number of breaths (inhalation and exhalation) taken per minute time." [] synonym: "bpm" EXACT [] synonym: "breaths/min" EXACT [] synonym: "Breaths/Minute" EXACT [] synonym: "{BREATHS}/min" EXACT [] synonym: "{breaths}/min" EXACT [] xref: NCIT:C49674 is_a: UO:0000280 ! Rate Unit property_value: SCDO:0000340 NCIT:C49674 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000716 xsd:string [Term] id: NCIT:C50474 name: Bradypnea def: "Abnormal decrease of rate of breathing." [] synonym: "Decreased Respiratory Rate" EXACT [] xref: NCIT:C50474 is_a: HP:0002086 ! Abnormality of the Respiratory System property_value: SCDO:0000340 NCIT:C50474 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000293 xsd:string [Term] id: NCIT:C50767 name: Tachypnea def: "Abnormal increase of rate of breathing." [] synonym: "Fast Breathing" EXACT [] synonym: "Increased Respiratory Rate" EXACT [] xref: NCIT:C50767 is_a: HP:0002086 ! Abnormality of the Respiratory System property_value: SCDO:0000340 NCIT:C50767 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000347 xsd:string [Term] id: NCIT:C50791 name: Urinary Tract Infection def: "A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine." [] xref: NCIT:C50791 is_a: IDO:0000586 ! Infection relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C50791 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0007744 xsd:string [Term] id: NCIT:C51677 name: Liver Biopsy def: "Removal of tissue from the liver for microscopic examination." [] xref: NCIT:C51677 is_a: SCDO:0000082 ! Diagnostic Technique, Method, Test or Assay property_value: SCDO:0000303 "Use relevant object property to link to \"Elevated Hepatic Iron Concentration\"." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C51677 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000693 xsd:string [Term] id: NCIT:C51773 name: Married def: "Indicates a person currently joined in a legally binding matrimonial union. Classify common law marriage as married. Includes married couples living together and not living together." [] synonym: "Married Status" EXACT [] xref: NCIT:C51773 is_a: NCIT:C91106 ! Clinical or Research Assessment Answer property_value: SCDO:0000340 NCIT:C51773 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000674 xsd:string [Term] id: NCIT:C51774 name: Never Been Married def: "Indicates a person who has never been married or whose marriages have been annulled." [] synonym: "Never Been Married/Annulled" EXACT [] synonym: "Never Married" EXACT [] synonym: "Never Married Status" EXACT [] xref: NCIT:C51774 is_a: NCIT:C91106 ! Clinical or Research Assessment Answer property_value: SCDO:0000340 NCIT:C51774 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000678 xsd:string [Term] id: NCIT:C51775 name: Widowed def: "Indicates a person who is no longer married because of the death of his/her spouse and has not remarried." [] synonym: "Widowed Status" EXACT [] xref: NCIT:C51775 is_a: NCIT:C91106 ! Clinical or Research Assessment Answer property_value: SCDO:0000340 NCIT:C51775 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000675 xsd:string [Term] id: NCIT:C51776 name: Divorced def: "Indicates a person whose marriage has been legally dissolved and has not remarried." [] xref: NCIT:C51776 is_a: NCIT:C91106 ! Clinical or Research Assessment Answer property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source NCIT:C51776 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000676 xsd:string [Term] id: NCIT:C519 name: Gentamicin def: "A broad-spectrum aminoglycoside antibiotic produced by fermentation of Micromonospora purpurea or M. echinospora. Gentamicin is an antibiotic complex consisting of four major (C1, C1a, C2, and C2a) and several minor components. This agent irreversibly binds to the bacterial 30S ribosomal subunit. Specifically, this antibiotic is lodged between 16S rRNA and S12 protein within the 30S subunit. This leads to interference with translational initiation complex, misreading of mRNA, thereby hampering protein synthesis and resulting in bactericidal effect. Aminoglycosides are mostly ineffective against anaerobic bacteria, fungi and viruses." [] synonym: "Garamicin" EXACT [] synonym: "Garamycin" EXACT [] synonym: "Genoptic" EXACT [] synonym: "Genoptic S.O.P." EXACT [] synonym: "Gentamycin" EXACT [] synonym: "Gentamycin Complex" EXACT [] synonym: "U-Gencin" EXACT [] xref: NCIT:C519 is_a: NCIT:C258 ! Antibiotic relationship: SCDO:1000018 HP:0001081 ! treats Cholelithiasis relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C519 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001259 xsd:string [Term] id: NCIT:C51993 name: Antibiotic Prophylaxis def: "Administration of antibiotics with the intent of preventing bacterial infection." [] comment: Is recommended, particularly up to the age of 5 years, to prevent bacterial infections in SCD patients. xref: NCIT:C51993 is_a: SCDO:0000930 ! Infection Prophylaxis relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C51993 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0006790 xsd:string [Term] id: NCIT:C52009 name: Amniocentesis def: "A prenatal diagnostic procedure in which a small sample of amniotic fluid is removed from the uterus by a needle inserted into the abdomen. This procedure is used to detect various genetic abnormalities in the fetus and/or the sex of the fetus." [] synonym: "Amniotic Fluid Testing" EXACT [] xref: NCIT:C52009 is_a: SCDO:0000919 ! Prenatal Screening for Sickle Cell property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C52009 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000048 xsd:string [Term] id: NCIT:C561 name: Ibuprofen def: "A propionic acid derivate and nonsteroidal anti-inflammatory drug (NSAID) with anti-inflammatory, analgesic, and antipyretic effects. Ibuprofen inhibits the activity of cyclo-oxygenase I and II, resulting in a decreased formation of precursors of prostaglandins and thromboxanes. This leads to decreased prostaglandin synthesis, by prostaglandin synthase, the main physiologic effect of ibuprofen. Ibuprofen also causes a decrease in the formation of thromboxane A2 synthesis, by thromboxane synthase, thereby inhibiting platelet aggregation." [] synonym: "2-[4-(2-methylpropyl)phenyl]propanoic acid" EXACT [] synonym: "Advil" EXACT [] synonym: "Ibuprophen" EXACT [] synonym: "Motrin" EXACT [] xref: NCIT:C561 is_a: CHEBI:35475 ! Non-Steroidal Anti-Inflammatory Drug is_a: CHEBI:35493 ! Antipyretic relationship: SCDO:1000018 HP:0002341 ! treats Cervical Cord Compression relationship: SCDO:1000018 SCDO:0001056 ! treats Sickle Cell Disease-S Beta Minus Thalassemia relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: http://purl.org/dc/elements/1.1/source http://www.drugbank.ca/drugs/DB01050 xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C561 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000606 xsd:string [Term] id: NCIT:C61797 name: Ketamine def: "A cyclohexanone derivative with analgesic and anesthetic properties. Although its mechanism of action is not well understood, ketamine appears exerts complex pharmacological actions including inhibition of biogenic amine uptake, binding to opioid receptors, and inhibition of N-methyl D-aspartate (NMDA) receptors. Because of the involvement of spinal NMDA receptors in the process of central sensitization, this agent may reduce pain perception and induce sedation." [] xref: NCIT:C61797 is_a: CHEBI:23888 ! Drug property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C61797 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000450 xsd:string [Term] id: NCIT:C62005 name: Amitriptyline def: "A derivative of dibenzocycloheptadiene and a tricyclic antidepressant. Amitriptyline inhibits the re-uptake of norepinephrine and serotonin by the presynaptic neuronal membrane in the central nervous system (CNS), thereby increasing the synaptic concentration of norepinephrine and serotonin. Due to constant stimulation to these receptors, amitriptyline may produce a downregulation of adrenergic and serotonin receptors, which may contribute to the antidepressant activity." [] xref: NCIT:C62005 is_a: CHEBI:23888 ! Drug is_a: SCDO:0001133 ! Symptomatic Therapeutics relationship: SCDO:1000018 SCDO:0000228 ! treats Chronic Neuropathic Pain relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: SCDO:0000303 "Used to treat neuropathic pain" xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C62005 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0004190 xsd:string [Term] id: NCIT:C62198 name: Nonsense Mutation def: "A point mutation occurring within the protein-coding region of a gene, and which codes for a stop that can truncate the protein." [] synonym: "Premature Termination Abnormality" EXACT [] synonym: "Premature Termination Mutation" EXACT [] xref: NCIT:C62198 is_a: NCIT:C62200 ! Point Mutation property_value: SCDO:0000340 NCIT:C62198 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0003789 xsd:string [Term] id: NCIT:C62200 name: Point Mutation def: "A small scale mutation caused by the substitution of a single nucleotide for another nucleotide." [] xref: NCIT:C62200 is_a: IDOMAL:50000026 ! Mutation relationship: SCDO:1000015 NCIT:C26548 ! modifies Gene Product property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C62200 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001372 xsd:string [Term] id: NCIT:C63547 name: Haplotype def: "A way of denoting the collective genotype of a number of closely linked loci on a chromosome." [] xref: NCIT:C63547 is_a: SCDO:0004061 ! Genotype property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C63547 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0007716 xsd:string [Term] id: NCIT:C64387 name: Millimole per Liter def: "A unit of concentration (molarity unit) equal to one millimole of solute per liter of solution." [] synonym: "Millimolar" EXACT [] synonym: "mM" EXACT [] synonym: "mmol/L" EXACT [] xref: NCIT:C64387 is_a: UO:0000051 ! Concentration Unit property_value: SCDO:0000340 NCIT:C64387 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000899 xsd:string [Term] id: NCIT:C64572 name: microgram per millilitre def: "A metric unit of mass concentration defined as the concentration of one gram of a substance per unit volume of the mixture equal to one cubic meter. The concept also refers to the metric unit of mass density (volumic mass) defined as the density of a substance which mass equal to one gram occupies the volume of one cubic meter." [] synonym: "g/m3" EXACT [] synonym: "Gram per Cubic Meter" EXACT [] synonym: "gram(s)/cubic meter" EXACT [] synonym: "gram/cubic meter" EXACT [] synonym: "mcg/mL" EXACT [] synonym: "mg/dm3" EXACT [] synonym: "mg/L" EXACT [] synonym: "mg/l" EXACT [] synonym: "Microgram per Milliliter" EXACT [] synonym: "microgram per milliliter" EXACT [] synonym: "microgram per millilitre" EXACT [] synonym: "microgram(s)/millilitre" EXACT [] synonym: "Microgram/Milliliter" EXACT [] synonym: "microgram/millilitre" EXACT [] synonym: "Milligram per Cubic Decimeter" EXACT [] synonym: "Milligram per Liter" EXACT [] synonym: "milligram per liter" EXACT [] synonym: "milligram(s)/litre" EXACT [] synonym: "Nanogram per Microliter" EXACT [] synonym: "ng/uL" EXACT [] synonym: "ug/mL" EXACT [] synonym: "ug/ml" EXACT [] synonym: "µg/mL" EXACT [] xref: NCIT:C64572 is_a: UO:0000180 ! Mass Per Unit Volume property_value: SCDO:0000340 NCIT:C64572 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000505 xsd:string [Term] id: NCIT:C64625 name: Pregabalin def: "A 3-isobutyl derivative of gamma-amino butyric acid (GABA) with anti-convulsant, anti-epileptic, anxiolytic, and analgesic activities. Although the exact mechanism of action is unknown, pregabalin selectively binds to alpha2delta (A2D) subunits of presynaptic voltage-dependent calcium channels (VDCCs) located in the central nervous system (CNS). Binding of pregabalin to VDCC A2D subunits prevents calcium influx and the subsequent calcium-dependent release of various neurotransmitters, including glutamate, norepinephrine, serotonin, dopamine, and substance P, from the presynaptic nerve terminals of hyperexcited neurons; synaptic transmission is inhibited and neuronal excitability is diminished. Pregabalin does not bind directly to GABA-A or GABA-B receptors and does not alter GABA uptake or degradation." [] synonym: "3-(Aminomethyl)-5-methyl-hexanoic Acid" EXACT [] synonym: "3-Isobutyl GABA" EXACT [] synonym: "CI 1008" EXACT [] synonym: "Lyrica" EXACT [] synonym: "PD 144723" EXACT [] xref: NCIT:C64625 is_a: SCDO:0000809 ! Non Opioid relationship: SCDO:1000018 SCDO:0000228 ! treats Chronic Neuropathic Pain relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C64625 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0008454 xsd:string [Term] id: NCIT:C64783 name: g/dL def: "A unit of mass concentration defined as the concentration of one gram of a substance per unit volume of the mixture equal to one deciliter (100 milliliters). The concept also refers to the metric unit of mass density (volumic mass) defined as the density of substance which mass equal to one gram occupies the volume one deciliter." [] synonym: "g/dl" EXACT [] synonym: "Gram per Deciliter" EXACT [] synonym: "gram per deciliter" EXACT [] synonym: "Gram/Deciliter" EXACT [] xref: NCIT:C64783 is_a: UO:0000180 ! Mass Per Unit Volume property_value: SCDO:0000340 NCIT:C64783 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000620 xsd:string [Term] id: NCIT:C67015 name: mg/dL def: "A unit of mass concentration defined as the concentration of one milligram of a substance in unit volume of the mixture equal to one cubic deciliter or 100 cubic centimeters. It is also a unit of mass density (volumic mass) defined as the density of substance which mass equal to one milligram occupies the volume one cubic deciliter or 100 cubic centimeters." [] synonym: "mg/dl" EXACT [] synonym: "Milligram per Deciliter" EXACT [] synonym: "Milligram/Deciliter" EXACT [] xref: NCIT:C67015 is_a: UO:0000180 ! Mass Per Unit Volume property_value: SCDO:0000340 NCIT:C67015 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000646 xsd:string [Term] id: NCIT:C67244 name: thousand cells per microliter def: "A unit of cell concentration expressed as a number of cells in thousands per unit volume equal to one microliter." [] synonym: "1000 cells/µL" EXACT [] synonym: "10^3 Cells/uL" EXACT [] synonym: "10^3{Cells}/uL" EXACT [] synonym: "10E3 Cells/uL" EXACT [] synonym: "Thousand Cells per Microliter" EXACT [] synonym: "thousand cells per microliter" EXACT [] synonym: "Thousand Cells/cu mm;" EXACT [] synonym: "thousand cells/µL" EXACT [] synonym: "thousands/µL" EXACT [] xref: NCIT:C67244 is_a: UO:0000316 ! cells per microliter property_value: SCDO:0000340 NCIT:C67244 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000511 xsd:string [Term] id: NCIT:C67251 name: million cells per microliter def: "A unit of cell concentration expressed as a number of cells in millions per unit volume equal to one microliter." [] synonym: "10^6 Cells/uL" EXACT [] synonym: "10^6{Cells}/uL" EXACT [] synonym: "10E6 cells/uL" EXACT [] synonym: "Million Cells per Microliter" EXACT [] synonym: "million cells per microliter" EXACT [] synonym: "million cells per microlitre" EXACT [] synonym: "Million Cells/cu mm" EXACT [] synonym: "million cells/µL" EXACT [] xref: NCIT:C67251 is_a: UO:0000316 ! cells per microliter property_value: SCDO:0000340 NCIT:C67251 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000504 xsd:string [Term] id: NCIT:C67376 name: IU/L def: "Unit of arbitrary substance concentration (biologic activity concentration) defined as the concentration of one international unit per one liter of the system volume." [] synonym: "IE/L" EXACT [] synonym: "International Unit per Liter" EXACT [] synonym: "International Unit per Litre" EXACT [] synonym: "International Unit/Liter" EXACT [] synonym: "International Unit/Litre" EXACT [] synonym: "Microinternational Unit per Microliter" EXACT [] synonym: "Milliinternational Unit per Milliliter" EXACT [] xref: NCIT:C67376 is_a: UO:0000051 ! Concentration Unit property_value: SCDO:0000340 NCIT:C67376 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000658 xsd:string [Term] id: NCIT:C68615 name: Birth Date def: "The calendar date on which a person was born." [] synonym: "BD" EXACT [] synonym: "Date of Birth" EXACT [] synonym: "DOB" EXACT [] xref: NCIT:C68615 is_a: NCIT:C16495 ! Demographic Factor is_a: SCDO:1000537 ! Temporal Observable property_value: SCDO:0000340 NCIT:C68615 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000544 xsd:string [Term] id: NCIT:C69256 name: Subject Unique Identifier def: "A unique identifier for a subject in a study." [] comment: The unique identification of a subject in a specified context. NOTE(S): This class is a resolution of the requirement for noting the type of an identifier which is not handled by the purely technical HL7 II data type.; A unique symbol that establishes identity of the subject. EXAMPLE(S): study subject number 7 on a specific study OTHER NAME(S): NOTE(S):; Unique Identifier of patient or fetus who is the subject of observations.; The unique identification of a subject in a specified context. synonym: "Participant ID" EXACT [] synonym: "Participant Identifier" EXACT [] synonym: "Participant Number" EXACT [] synonym: "Research Subject ID" EXACT [] synonym: "Subject ID" EXACT [] synonym: "Subject Identification Code" EXACT [] synonym: "Subject Identifier" EXACT [] synonym: "Subject UID" EXACT [] synonym: "Subject Unique Identifier" EXACT [] synonym: "Subject's Unique Identifier" EXACT [] synonym: "Subject.identifier" EXACT [] synonym: "SubjectIdentifier" EXACT [] synonym: "Unique Subject Identifier" EXACT [] synonym: "USUBJID" EXACT [] xref: NCIT:C69256 is_a: NCIT:C19332 ! Personal Attribute is_a: SCDO:0300004 ! Epidemiologic Study Characteristics is_a: SCDO:0300005 ! Research Characteristics property_value: SCDO:0000340 NCIT:C69256 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000469 xsd:string [Term] id: NCIT:C70731 name: Clinical Trial Subject Unique Identifier def: "A unique identifier assigned to each clinical trial subject to protect the subject's identity and used in lieu of the subject's name when the investigator reports adverse events and/or other trial-related data." [] synonym: "Clinical Study Subject Unique Identifier" EXACT [] synonym: "Clinical Trial Subject Unique Identifier" EXACT [] xref: NCIT:C70731 is_a: NCIT:C69256 ! Subject Unique Identifier property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C70731 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000002 xsd:string [Term] id: NCIT:C70817 name: Study Protocol def: "The formal plan of an experiment or research activity, including the objective, rationale, design, materials and methods for the conduct of the study; intervention description, and method of data analysis." [] xref: NCIT:C70817 is_a: SCDO:0300005 ! Research Characteristics property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C70817&jump_to_nav=true property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000096 xsd:string [Term] id: NCIT:C71375 name: Abdominal Ultrasound def: "A method of ultrasound imaging in which the ultrasound probe is pressed against the skin of the abdomen in order to create an image of the abdominal organs." [] synonym: "Abdominal Sonogram" EXACT [] synonym: "Transabdominal Ultrasound" EXACT [] synonym: "TUS" EXACT [] xref: NCIT:C71375 is_a: NCIT:C17230 ! Ultrasound Test property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C71375 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000005 xsd:string [Term] id: NCIT:C71746 name: Vascular Access Device Complications def: "Difficulties related to an apparatus used to gain access to arteries and veins." [] xref: NCIT:C71746 is_a: NCIT:C78254 ! Device Complication property_value: SCDO:0000340 https://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C71746 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000389 xsd:string [Term] id: NCIT:C71754 name: Anonymous def: "Having no known name or identity or known source." [] xref: NCIT:C71754 is_a: SCDO:0002125 ! Confidentiality property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C71754&jump_to_nav=true property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0007242 xsd:string [Term] id: NCIT:C74096 name: Voluntary def: "Of your own free will or design; not forced or compelled; controlled by individual volition." [] xref: NCIT:C74096 is_a: SCDO:0300005 ! Research Characteristics property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C74096&jump_to_nav=true property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001874 xsd:string [Term] id: NCIT:C74954 name: Liver Function Test def: "The quantitative measurement of liver enzymes in the blood, which is useful in assessing the functional state of a patient's liver. Liver function tests include the measurement of albumin, alanine transaminase, aspartate transaminase, alkaline phosphatase, bilirubin, and gamma glutamyl transferase." [] synonym: "LFT" EXACT [] synonym: "Liver Function Assay" EXACT [] synonym: "Liver Function Assays" EXACT [] synonym: "Liver Function Tests" EXACT [] xref: NCIT:C74954 is_a: SCDO:0000902 ! Physiological Assay property_value: SCDO:0000303 "Other LFTs to be added here? There are more in NCIT" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C74954 property_value: SCDO:0000479 "PhenX protocol: Liver Function - Assay #190801" xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000695 xsd:string [Term] id: NCIT:C75434 name: Hemoglobin Subunit Alpha def: "Hemoglobin subunit alpha (142 aa, ~15 kDa) is encoded by both the human HBA1 and human HBA2 genes. This protein plays a role in the distribution of oxygen from the lungs to other organs and tissues." [] synonym: "Alpha Globin" EXACT [] synonym: "Alpha-Globin" EXACT [] synonym: "Alpha-Globin Chain" EXACT [] synonym: "Haemoglobin Alpha Chain" EXACT [] synonym: "Haemoglobin Subunit Alpha" EXACT [] synonym: "Hemoglobin Alpha Chain" EXACT [] synonym: "Hemoglobin Subunit Alpha" EXACT [] xref: NCIT:C75434 is_a: SCDO:1000105 ! Alpha-Globin Family Members property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C75434 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000365 xsd:string [Term] id: NCIT:C75583 name: Slit-Lamp Examination def: "Examination of the anterior segment of the eye using a medical instrument called a slit lamp." [] synonym: "SLIT LAMP" EXACT [] synonym: "Slit-Lamp Biomicroscopy" EXACT [] synonym: "Slit-Lamp Eye Exam" EXACT [] xref: NCIT:C75583 is_a: NCIT:C38060 ! Eye Examination relationship: SCDO:1000192 SCDO:0001077 ! uses diagnostic device Slit Lamp property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C75583 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001078 xsd:string [Term] id: NCIT:C78254 name: Device Complication def: "Any problem arising from the use of a medical device." [] xref: NCIT:C78254 is_a: NCIT:C2959 ! Complication property_value: SCDO:0000340 https://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C78254 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000385 xsd:string [Term] id: NCIT:C78393 name: Iron Overload def: "Accumulation of iron in the tissues. It may be a manifestation of an inherited disorder (e.g., hemochromatosis) or acquired (in patients with repeated blood transfusions). Symptoms include hepatomegaly, arthritis, diabetes mellitus, and bronzed skin. If untreated it has a progressive course and may lead to death." [] synonym: "Diabetes Bronze" EXACT [] synonym: "Haemochromatosis" EXACT [] synonym: "Hemochromatosis" EXACT [] synonym: "Iron Storage Disorder" EXACT [] xref: NCIT:C78393 is_a: SCDO:0002674 ! Abnormality of Metabolism/Homeostasis relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000303 "Perhaps suggest that NCIT merges this term with \"Hemochromatosis\", which they have as a separate term. \n\nSub-classes need to be worked on further. Consider sub-classes of \"hemochromatosis\" in the DO.\n\nInclude Hemosiderosis as a sub-class?" xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C78393 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001945 xsd:string [Term] id: NCIT:C78598 name: Posterior Reversible Leukoencephalopathy def: "An acute or subacute reversible condition characterized by headaches, mental status changes, visual disturbances, and seizures associated with imaging findings of posterior leukoencephalopathy. It has been observed in association with hypertensive encephalopathy, eclampsia, and immunosuppressive and cytotoxic drug treatment." [] synonym: "Reversible Posterior Leukoencephalopathy Syndrome" EXACT [] xref: NCIT:C78598 is_a: HP:0012638 ! Abnormal Nervous System Physiology relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C78598 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0007836 xsd:string [Term] id: NCIT:C78638 name: Thrombus in Catheter def: "The development of a blood clot in a catheter." [] xref: NCIT:C78638 is_a: NCIT:C78254 ! Device Complication property_value: SCDO:0000340 https://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C78638 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000388 xsd:string [Term] id: NCIT:C78652 name: Pediatric Quality of Life Inventory (PedsQL) def: "A parent report or patient self report for measuring health-related quality of life (HRQOL) in healthy children and adolescents and those with acute and chronic health conditions. The PedsQL Measurement Model uses a modular approach that integrates both generic core scales and disease-specific modules into one measurement system. (Copyright 1998-2008 James W. Varni, Ph.D.)" [] synonym: "Pediatric Quality of Life Inventory" EXACT [] synonym: "PedsQL" EXACT [] xref: NCIT:C78652 is_a: SCDO:0000952 ! Quality of Life in Sickle Cell Disease Measure property_value: http://purl.org/dc/elements/1.1/source "Varni, J. W., Seid, M., and Kurtin, P. S. (2001). PedsQL 4.0: Reliability and validity of the 86 pediatric quality of life inventory version 4.0 generic core scales in healthy and patient populations. Medical Care, 39, 800-812." xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C78652 property_value: SCDO:0000481 "Self; Proxy (Parent report)" xsd:string property_value: SCDO:0000482 "Clinic patients" xsd:string property_value: SCDO:0000484 "Many measures available in Spanish, French and Portuguese" xsd:string property_value: SCDO:0001222 "Toddlers; Children; Adolescents" xsd:string property_value: SCDO:0001335 "yes" xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000875 xsd:string [Term] id: NCIT:C79903 name: Blood Smear def: "A sample of blood applied in a thin film to a microscope slide for study under a microscope." [] xref: NCIT:C79903 is_a: SCDO:0000133 ! Blood Test property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C79903 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0008915 xsd:string [Term] id: NCIT:C80411 name: Right Heart Catheterization def: "A diagnostic procedure in which a catheter is guided into the right heart, where pressures may be measured and radiocontrast material may be injected to visualize blood flow in and around the right heart." [] synonym: "Pulmonary Artery Catheterization" EXACT [] synonym: "Swan-Ganz Catheterization" EXACT [] xref: NCIT:C80411 is_a: SCDO:0000500 ! Heart Function Test relationship: SCDO:1000192 SCDO:0000190 ! uses diagnostic device Catheter relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C80411 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001012 xsd:string [Term] id: NCIT:C81229 name: Alcohol Use History def: "A description of an individual's current and past experience with alcoholic beverage consumption." [] xref: NCIT:C81229 is_a: SCDO:0001120 ! Substance Use History property_value: SCDO:0000303 "Add other terms in the PhenX \"Alcohol Use\" collection?" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C81229 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000040 xsd:string [Term] id: NCIT:C81262 name: Medical Record Number def: "An identifying number within an institution that is used to reference a subject's medical information." [] xref: NCIT:C81262 is_a: NCIT:C69256 ! Subject Unique Identifier property_value: SCDO:0000340 "C81262" property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000853 xsd:string [Term] id: NCIT:C82909 name: Mild Anemia def: "Anemia not associated with symptoms of fatigue, headaches, palpitations, or shortness of breath. In asymptomatic anemia the hematocrit levels usually range from 32 to 35%." [] xref: NCIT:C82909 is_a: HP:0001903 ! Anemia property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C82909 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0003672 xsd:string [Term] id: NCIT:C83031 name: Visit Date def: "The date on which a visit occurred." [] synonym: "Clinical Visit Date" EXACT [] xref: NCIT:C83031 is_a: EUPATH:0000310 ! Information on Observation Details is_a: SCDO:1000537 ! Temporal Observable property_value: SCDO:0000340 NCIT:C83031 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000540 xsd:string [Term] id: NCIT:C84481 name: Hereditary Hemochromatosis def: "An inherited metabolic disorder characterized by iron accumulation in the tissues." [] synonym: "Congenital Haemochromatosis" EXACT [] synonym: "Hereditary Haemochromatosis" EXACT [] synonym: "Iron Overload Disease" EXACT [] synonym: "Primary Haemochromatosis" EXACT [] xref: NCIT:C84481 is_a: NCIT:C78393 ! Iron Overload property_value: SCDO:0000340 NCIT:C84481 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000512 xsd:string [Term] id: NCIT:C84979 name: Hemoglobin Subunit Epsilon def: "Hemoglobin subunit epsilon (147 aa, ~16 kDa) is encoded by the human HBE1 gene. This protein plays a role in the transport of oxygen to tissues of the embryo." [] synonym: "Epsilon-Globin" EXACT [] synonym: "Haemoglobin Epsilon Chain" EXACT [] synonym: "Haemoglobin Subunit Epsilon" EXACT [] synonym: "Hemoglobin Epsilon Chain" EXACT [] xref: NCIT:C84979 is_a: SCDO:1000012 ! Beta-Globin Family Members property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C84979 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001381 xsd:string [Term] id: NCIT:C84980 name: Hemoglobin Subunit Delta def: "A type of polypeptide chain that when in combination with alpha globin polypeptide chains forms adult hemoglobin 2 (HbA2). HbA2 comprises around 3% of adult hemoglobin. Hemoglobin subunit delta (147 aa, ~16 kDa) is encoded by the human HBD gene. This protein plays a role in the transport of oxygen to tissues of the adult body." [] synonym: "Delta Globin" EXACT [] synonym: "Delta-Globin" EXACT [] synonym: "Haemoglobin Delta Chain" EXACT [] synonym: "Haemoglobin Subunit Delta" EXACT [] synonym: "Hemoglobin Delta Chain" EXACT [] xref: NCIT:C84980 is_a: SCDO:1000012 ! Beta-Globin Family Members property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C84980 xsd:string property_value: SCDO:0000340 https://www.ncbi.nlm.nih.gov/gene/3045 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000011 xsd:string [Term] id: NCIT:C84983 name: Hemoglobin Subunit Beta def: "Hemoglobin subunit beta (147 aa, ~16 kDa) is encoded by the human HBB gene. This protein plays a role in the transport of oxygen to tissues of the adult body." [] synonym: "Beta Globin" EXACT [] synonym: "Beta Globin Chain" EXACT [] synonym: "Beta-Globin" EXACT [] synonym: "Beta-Globin Chain" EXACT [] synonym: "Haemoglobin Beta Chain" EXACT [] synonym: "Haemoglobin Subunit Beta" EXACT [] synonym: "HBB" EXACT [] synonym: "Hemoglobin Beta Chain" EXACT [] xref: NCIT:C84983 is_a: SCDO:1000012 ! Beta-Globin Family Members property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C84983 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000358 xsd:string [Term] id: NCIT:C85397 name: Spirometry def: "Measurement of the breathing capacity of the lung by means of a spirometer." [] xref: NCIT:C85397 is_a: SCDO:0000942 ! Pulmonary Function Test relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:1000192 SCDO:0001099 ! uses diagnostic device Spirometer relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C85397 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001100 xsd:string [Term] id: NCIT:C86008 name: Methemoglobin def: "A product of hemoglobin produced by oxidation of the iron atom from the ferrous to the ferric state." [] synonym: "MetHb" EXACT [] xref: NCIT:C86008 is_a: NCIT:C16676 ! Hemoglobin property_value: SCDO:0000340 NCIT:C86008 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000167 xsd:string [Term] id: NCIT:C91105 name: Clinical or Research Assessment Questionnaire def: "An instrument consisting of a predetermined set of questions for a clinical or research assessment." [] xref: NCIT:C91105 is_a: SCDO:1000472 ! Data Standards property_value: SCDO:0000340 NCIT:C91105 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000476 xsd:string [Term] id: NCIT:C91106 name: Clinical or Research Assessment Answer def: "A statement (either spoken or written) that is made in reply to a clinical research assessment question." [] synonym: "Clinical or Research Assessment Response" EXACT [] xref: NCIT:C91106 is_a: SCDO:1000472 ! Data Standards property_value: SCDO:0000340 NCIT:C91106 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000473 xsd:string [Term] id: NCIT:C92755 name: Chorionic Villus Sampling def: "The biopsy of placental tissue containing the chorionic villi from the maternal uterus in early pregnancy to diagnose fetal genetic defects." [] synonym: "CVS" EXACT [] xref: NCIT:C92755 is_a: SCDO:0000919 ! Prenatal Screening for Sickle Cell property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C92755 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000223 xsd:string [Term] id: NCIT:C92803 name: Genetic Screening def: "Testing to determine if there is a predisposition or indication of a possible genetic or a chromosomal abnormality." [] xref: NCIT:C92803 is_a: NCIT:C15709 ! Genetic Testing property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C92803 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000446 xsd:string [Term] id: NCIT:C92853 name: Postpartum Hemorrhage def: "Hemorrhage defined as a blood loss in excess of 500 mL after vaginal delivery or more than 1000 mL after a cesarean delivery." [] xref: NCIT:C92853 is_a: HP:0001197 ! Abnormality of Prenatal Development or Birth is_a: HP:0001871 ! Abnormality of Blood and Blood-Forming Tissues is_a: NCIT:C34941 ! Pregnancy Complication relationship: SCDO:0000664 SCDO:0000147 ! treated with Blood Transfusion relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C92853 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000916 xsd:string [Term] id: NCIT:C93407 name: Study Outcome Measurement def: "Specific key measurement(s) or observation(s) used to measure the effect of experimental variables on the subjects in a study, or for observational studies, to describe patterns of diseases or traits or associations with exposures, risk factors or treatment. The specific measure that receives the most emphasis in assessment." [] synonym: "Study Outcome Measure" EXACT [] xref: NCIT:C93407 is_a: SCDO:0300005 ! Research Characteristics property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C93407 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001116 xsd:string [Term] id: NCIT:C95437 name: Acute Pancreatitis def: "An acute inflammatory process that leads to necrosis of the pancreatic parenchyma. Signs and symptoms include severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. Causes include alcohol consumption, presence of gallstones, trauma, and drugs." [] xref: NCIT:C95437 is_a: HP:0025031 ! Abnormality of the Digestive System is_a: SCDO:1000000 ! Acute Phenotype relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C95437 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0005115 xsd:string [Term] id: NCIT:C95504 name: Hemoglobin H Disease def: "A form of alpha thalassemia that results from reduced protein production from three of the four alpha-globin genes. Clinically it is characterized by chronic hemolytic anemia." [] synonym: "Alpha-Thalassemia Intermedia" EXACT [] synonym: "Haemoglobin H Disease" EXACT [] synonym: "Hb H-Disease" EXACT [] xref: NCIT:C95504 is_a: SCDO:0000042 ! Alpha Thalassemia relationship: SCDO:0000663 SCDO:0000547 ! diagnosed using tool Hemoglobin Profile Assay relationship: SCDO:0000663 SCDO:0003894 ! diagnosed using tool Gap PCR relationship: SCDO:0000664 NCIT:C258 ! treated with Antibiotic relationship: SCDO:0000664 SCDO:0000147 ! treated with Blood Transfusion relationship: SCDO:0000664 SCDO:0008888 ! treated with Iron Chelation Therapy relationship: SCDO:0001364 HP:0000007 ! has mode of inheritance Autosomal Recessive relationship: SCDO:1000005 SCDO:0000114 ! modified by Beta Thalassemia Trait relationship: SCDO:1000172 EUPATH:0000034 ! has causal genotype Alpha Thalassemia Genotype relationship: SCDO:1000218 HP:0004870 ! has manifestation Chronic Hemolytic Anemia relationship: SCDO:1000223 SCDO:0001384 ! has causal molecular phenotype Reduced Alpha/Gamma Synthesis Ratio property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C95504 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000534 xsd:string [Term] id: NCIT:C95534 name: Hemoglobin Trait def: "A condition in which a person is heterozygous for a globin gene, with one normal allele and one defective allele." [] synonym: "Heterozygous Hemoglobinopathy" EXACT [] xref: NCIT:C95534 is_a: SCDO:0000552 ! Hemoglobinopathy property_value: SCDO:0000303 "NCIT includes this class below \"Hemoglobinopathy\", hence its inclusion here." xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C95534 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000550 xsd:string [Term] id: NCIT:C95535 name: Alpha Thalassemia Trait def: "A condition in which a person has reduced protein production from two of the four alpha-globin alleles." [] comment: -/- alpha/alpha or -/alpha -/alpha. It can exist in two forms: (1) alpha-thal-1 (alpha alpha/--), involves cis deletion of both alpha genes on the same chromosome; (2) alpha-thal-2 (alpha-/alpha-), involves trans deletion of alpha genes this occurs on different (homologous) chromosomes. synonym: "Alpha-Thalassemia Trait" EXACT [] xref: NCIT:C95535 is_a: SCDO:0000551 ! Thalassemia Trait relationship: SCDO:1000015 SCDO:0000251 ! modifies Clinical Phenotype of Beta Thalassemia relationship: SCDO:1000015 SCDO:0000895 ! modifies Phenotype of Sickle Cell Disease relationship: SCDO:1000172 EUPATH:0000034 ! has causal genotype Alpha Thalassemia Genotype relationship: SCDO:1000210 SCDO:0001386 ! has causal or contributing genetic variation Alpha-Globin Locus Deletion relationship: SCDO:1000218 NCIT:C3833 ! has manifestation Asymptomatic property_value: http://purl.org/dc/elements/1.1/source Alpha:Thalassemia property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C95535 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000044 xsd:string [Term] id: NCIT:C95536 name: Alpha Thalassemia Silent Carrier def: "A condition in which a person has reduced protein production from one of the four alpha-globin alleles." [] synonym: "Alpha Thalassemia Silent" EXACT [] synonym: "Alpha-Thalassemia Silent Carrier" EXACT [] xref: NCIT:C95536 is_a: SCDO:0000551 ! Thalassemia Trait relationship: SCDO:1000172 EUPATH:0000034 ! has causal genotype Alpha Thalassemia Genotype relationship: SCDO:1000210 SCDO:0001386 ! has causal or contributing genetic variation Alpha-Globin Locus Deletion relationship: SCDO:1000218 NCIT:C3833 ! has manifestation Asymptomatic property_value: http://purl.org/dc/elements/1.1/source Alpha:Thalassemia property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C95536 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000043 xsd:string [Term] id: NCIT:C95539 name: Sickle Beta Thalassemia def: "A compound heterozygous state in which a person has a hemoglobin S allele along with a beta-thalassemia allele. The severity of the condition is determined to a large extent by the quantity of normal hemoglobin produced by the beta-thalassemia gene." [] synonym: "Hb S-Beta Thalassemia" EXACT [] synonym: "HbS-Beta-Thalassemia Syndrome" EXACT [] synonym: "HbSBetaThal" EXACT [] synonym: "S Beta-Thalassemia" EXACT [] synonym: "S-Beta Thalassemia" EXACT [] synonym: "Sickle Beta Thalassaemia" EXACT [] synonym: "Sickle Beta-Thalassaemia" EXACT [] synonym: "Sickle Cell Beta Thalassemia Disease" EXACT [] synonym: "Sickle Cell Disease-S Beta Thalassaemia" EXACT [] synonym: "Sickle Cell-Beta Thalassaemia" EXACT [] synonym: "Sickle Cell-Beta-Thalassemia" EXACT [] synonym: "Sickle Cell-Beta-Thalassemia Disease Syndrome" EXACT [] xref: NCIT:C95539 is_a: SCDO:0007656 ! Sickle Cell Thalassemia relationship: SCDO:0000663 NCIT:C15709 ! diagnosed using tool Genetic Testing relationship: SCDO:0000663 NCIT:C79903 ! diagnosed using tool Blood Smear relationship: SCDO:0000663 SCDO:0000547 ! diagnosed using tool Hemoglobin Profile Assay relationship: SCDO:0001364 SCDO:1000243 ! has mode of inheritance Autosomal Recessive Compound Heterozygous relationship: SCDO:1000172 SCDO:1000107 ! has causal genotype Hemoglobin Genotype S/Beta Thalassemia relationship: SCDO:1000210 SCDO:0009731 ! has causal or contributing genetic variation Beta Thalassemia Mutation relationship: SCDO:1000210 SCDO:1000039 ! has causal or contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000223 HP:0011906 ! has causal molecular phenotype Reduced Beta/Alpha Synthesis Ratio relationship: SCDO:1000223 SCDO:0000514 ! has causal molecular phenotype Hemoglobin S relationship: SCDO:1000223 SCDO:1000240 ! has causal molecular phenotype Reduced or Absent Hemoglobin A relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C61237 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001057 xsd:string [Term] id: NCIT:C96239 name: Glomerular Hypertrophy def: "A morphologic finding indicating enlargement of the glomeruli in a kidney specimen." [] xref: NCIT:C96239 is_a: HP:0000077 ! Abnormality of the Kidney property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C96239 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0002784 xsd:string [Term] id: NCIT:C96391 name: Meningococcal Conjugate Vaccine MCV4 def: "A conjugate vaccine of meningococcal polysaccharide used for active immunization against invasive meningococcal disease caused by Neisseria meningiditis serogroups A, C, Y, and W-135." [] synonym: "MCV4" EXACT [] synonym: "Menactra" EXACT [] synonym: "Meningococcal Conjugate Vaccine MCV-4" EXACT [] synonym: "Meningococcal Polysaccharide (Serogroups A, C, Y and W-135) Diphtheria Toxoid Conjugated Vaccine" EXACT [] synonym: "Menveo" EXACT [] xref: NCIT:C96391 is_a: VO:0000001 ! Vaccine relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C96391 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0006120 xsd:string [Term] id: NCIT:C97120 name: Pneumococcal 10-Valent Conjugate Vaccine def: "An active immunizing vaccine used to prevent infection by the bacterium Streptococcus pneumoniae. It is indicated for disease caused by serotypes 1, 5, 4, 6B, 7, 9V, 14, 18C, 19F, and 23F." [] synonym: "PCV 10" EXACT [] xref: NCIT:C97120 is_a: NCIT:C97123 ! Conjugate Pneumococcal Vaccine property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C97120 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000909 xsd:string [Term] id: NCIT:C97121 name: Pneumococcal 13-Valent Conjugate Vaccine def: "A pneumococcal conjugate vaccine containing 13 different strains of the bacterium Streptococcus pneumoniae, used in children and studied in immunocompromised patients for the prevention of pneumococcal disease. The pneumococcal 13-valent conjugate vaccine contains capsular antigen polysaccharides derived from the S. pneumoniae serotypes 1, 3, 4, 5, 6A, 6B, 7F, 9V, 14, 18C, 19A, 19F and 23F that are individually conjugated to a nontoxic diphtheria cross-reactive material (CRM) carrier protein (CRM197). Upon vaccination, pneumococcal 13-valent conjugate vaccine induces active immunization against 13 different serotypes of S. pneumoniae and protects against pneumococcal disease." [] synonym: "PCV 13" EXACT [] synonym: "PCV13 Vaccine" EXACT [] synonym: "Prevnar 13" EXACT [] xref: NCIT:C97121 is_a: NCIT:C97123 ! Conjugate Pneumococcal Vaccine relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C97121 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000910 xsd:string [Term] id: NCIT:C97123 name: Conjugate Pneumococcal Vaccine def: "An active immunizing vaccine used to prevent infection by the bacterium Streptococcus pneumoniae. It consists of a solution of saccharides of the capsular antigens of Streptococcus serotypes individually conjugated to proteins." [] synonym: "Pneumococcal Conjugate Vaccine" EXACT [] xref: NCIT:C97123 is_a: VO:0000675 ! Streptococcus Pneumoniae Vaccine relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C97123 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000275 xsd:string [Term] id: NCIT:C98805 name: Acquired Methemoglobinemia def: "Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene) and nitrate-rich foods." [] xref: NCIT:C98805 is_a: SCDO:0000753 ! Methemoglobinemia property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C98805&jump_to_nav=true property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000013 xsd:string [Term] id: NCIT:C98835 name: Sickle Cell Disease-S Beta Zero Thalassemia def: "A form of sickle cell thalassemia characterized by the absence of hemoglobin A. Patients usually have severe anemia identical to that seen in sickle cell disease." [] synonym: "Hb S Beta 0 Thalassemia" EXACT [] synonym: "Hemoglobin S Beta 0 Thalassemia" EXACT [] synonym: "S Beta 0 Thalassemia" EXACT [] synonym: "S beta-zero" EXACT [] synonym: "Sickle Beta 0 Thalassemia" EXACT [] synonym: "Sickle Beta Zero Thalassemia" EXACT [] synonym: "Sickle Cell-Beta 0 Thalassemia" EXACT [] synonym: "Sickle Cell-Beta Zero Thalassemia" EXACT [] xref: NCIT:C98835 is_a: NCIT:C95539 ! Sickle Beta Thalassemia relationship: SCDO:0000663 NCIT:C15709 ! diagnosed using tool Genetic Testing relationship: SCDO:0000663 NCIT:C79903 ! diagnosed using tool Blood Smear relationship: SCDO:0000663 SCDO:0000547 ! diagnosed using tool Hemoglobin Profile Assay relationship: SCDO:0000664 SCDO:0000147 ! treated with Blood Transfusion relationship: SCDO:0000664 SCDO:0000506 ! treated with Hematopoietic Stem Cell Transplantation relationship: SCDO:0001364 SCDO:1000243 ! has mode of inheritance Autosomal Recessive Compound Heterozygous relationship: SCDO:1000172 SCDO:1000067 ! has causal genotype Hemoglobin Genotype S/Beta Zero Thalassaemia relationship: SCDO:1000218 EUPATH:0000215 ! has manifestation Severe Anemia relationship: SCDO:1000223 SCDO:0000514 ! has causal molecular phenotype Hemoglobin S relationship: SCDO:1000223 SCDO:1000241 ! has causal molecular phenotype Absent Hemoglobin A relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives property_value: SCDO:0000303 "Requires further refinement." xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C98835 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001058 xsd:string [Term] id: NCIT:C99042 name: Renal Vein Thrombosis def: "The formation of a thrombus in the renal vein." [] xref: NCIT:C99042 is_a: HP:0000077 ! Abnormality of the Kidney is_a: HP:0001977 ! Abnormal Thrombosis relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C99042 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0005061 xsd:string [Term] id: NCIT:C99063 name: Spinal Cord Infarction def: "Ischemic necrosis of the spinal cord caused by occlusion of the arteries that supply blood to the spinal cord. Signs and symptoms include intermittent back pain, pain in the legs, paralysis, and incontinence." [] xref: NCIT:C99063 is_a: HP:0012639 ! Abnormal Nervous System Morphology relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000303 "Can be treated with exchange transfusion (SCDO:0001303)" xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C99063 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0005226 xsd:string [Term] id: OBI:0000185 name: Imaging Assay def: "An assay that produces a picture of an entity." [] xref: OBI:0000185 is_a: SCDO:0000082 ! Diagnostic Technique, Method, Test or Assay property_value: SCDO:0000303 "Perhaps replace this term with \"Diagnostic Imaging\" from NCIT?" xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/OBI_0000185 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000612 xsd:string [Term] id: OBI:0000626 name: DNA Sequencing def: "A sequencing process which uses deoxyribonucleic acid as input and results in a the creation of DNA sequence information artifact using a DNA sequencer instrument." [] xref: OBI:0000626 is_a: SCDO:0000448 ! Genetic Technique property_value: SCDO:0000303 "Add sub-class \"beta-globin gene sequencing\" as per the \"Diagnostic Methods\" section of the term \"Dominant beta-thalassemia\" in Orphanet." xsd:string property_value: SCDO:0000340 OBI:0000626 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0004249 xsd:string [Term] id: OBI:0000925 name: Infectious Agent def: "A material entity bearing the disposition to infect an organism" [] xref: OBI:0000925 is_a: SCDO:0000435 ! Environmental Disease Modifier property_value: SCDO:0000340 OBI:0000925 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000638 xsd:string [Term] id: OBI:0000990 name: Electron Microscope def: "A microscope that produces an image of an object by targeting it with an electron beam." [] comment: It is capable of much higher magnifications and has a greater resolving power than a light microscope, allowing it to see much smaller objects in finer detail. xref: OBI:0000990 is_a: OBI:0400169 ! Microscope property_value: SCDO:0000340 OBI:0000990 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000422 xsd:string [Term] id: OBI:0001098 name: Ultrasound Machine def: "A device that is used to visualize subcutaneous body structures including tendons, muscles, joints, vessels and internal organs." [] xref: OBI:0001098 is_a: SCDO:0000376 ! Diagnostic Device relationship: SCDO:1000191 NCIT:C17230 ! used by diagnostic tool Ultrasound Test property_value: SCDO:0000340 OBI:0001098 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001202 xsd:string [Term] id: OBI:0001138 name: X-Ray Machine def: "A device that is used to generate X-rays." [] synonym: "Radiographic Unit" EXACT [] xref: OBI:0001138 is_a: SCDO:0000376 ! Diagnostic Device relationship: SCDO:1000191 SCDO:0000217 ! used by diagnostic tool Chest X-Ray relationship: SCDO:1000191 SCDO:0000963 ! used by diagnostic tool Radiography property_value: SCDO:0000340 http://purl.obolibrary.org/obo/OBI_0001138 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001251 xsd:string [Term] id: OBI:0002140 name: Temperature Measurement Assay def: "An assay to determine the temperature of an evaluant." [] xref: OBI:0002140 is_a: SCDO:0000902 ! Physiological Assay property_value: SCDO:0000340 OBI:0002140 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000752 xsd:string [Term] id: OBI:0002146 name: HIV Antibody Test def: "An antigen specific antibodies assay that is meant to detect antibodies that bind to human immunodeficiency virus (HIV) antigens." [] comment: The window period for antibody tests in most people is somewhere between 3 to 12 weeks from the time of infection. synonym: "HIV Antibody Assay" EXACT [] xref: OBI:0002146 is_a: SCDO:0000571 ! HIV Test property_value: http://purl.org/dc/elements/1.1/source https://aidsinfo.nih.gov/understanding-hiv-aids/fact-sheets/19/47/hiv-testing property_value: SCDO:0000340 OBI:0002146 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000195 xsd:string [Term] id: OBI:0002556 name: Minimum Age Value Specification def: "A value specifcation that specifies the youngest age when specifying an age range." [] xref: OBI:0002556 is_a: SCDO:1000401 ! Data Descriptor property_value: SCDO:0000340 OBI:0002556 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000405 xsd:string [Term] id: OBI:0002557 name: Maximum Age Value Specification def: "A value specifcation that specifies the oldest age when specifying an age range." [] xref: OBI:0002557 is_a: SCDO:1000401 ! Data Descriptor property_value: SCDO:0000340 OBI:0002557 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000404 xsd:string [Term] id: OBI:0200198 name: Tandem Mass Spectrometry def: "A data transformation that uses two or more analyzers separated by a region in which ions can be induced to fragment by transfer of energy (frequently by collision with other molecules)." [] comment: Example of usage: A precursor ion is selected in the first stage, allowed to fragment and then all resultant masses are scanned in the second mass analyzer and detected in the detector that is positioned after the second mass analyzer. This experiment is commonly performed to identify transitions used for quantification by tandem MS. synonym: "MS/MS" EXACT [] synonym: "Tandem MS" EXACT [] xref: OBI:0200198 is_a: SCDO:0000216 ! Chemical Assay property_value: http://purl.org/dc/elements/1.1/source OBI:0200198 property_value: SCDO:0000340 OBI:0200198 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001138 xsd:string [Term] id: OBI:0400115 name: Spectrophotometer def: "A spectrophotometer is an instrument that measures the intensity of light as a function of the color, or more specifically, the wavelength of light, transmitted by a substance." [] xref: OBI:0400115 is_a: SCDO:0000376 ! Diagnostic Device property_value: SCDO:0000340 OBI:0400115 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001096 xsd:string [Term] id: OBI:0400169 name: Microscope def: "A microscope is an instrument which magnifies the view on objects (too small to be viewed by the naked eye) under increased resolution. A microscope can be an optical instrument but also and electronic instrument. There are various kind of optical microscopes, e.g confocal microscope, epifluoresence microscope)." [] xref: OBI:0400169 is_a: SCDO:0000376 ! Diagnostic Device property_value: SCDO:0000340 OBI:0400169 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000757 xsd:string [Term] id: OBI:1110053 name: Cancer def: "A disease characterized by abnormal and uncontrolled cell division." [] synonym: "Malignancy" EXACT [] synonym: "Malignant Neoplasia" EXACT [] synonym: "Malignant Neoplasm" EXACT [] synonym: "Malignant Tumor" EXACT [] synonym: "Malignant Tumour" EXACT [] xref: OBI:1110053 is_a: SCDO:0000267 ! Comorbid Disease relationship: SCDO:0000664 SCDO:0001252 ! treated with X-Ray Therapy relationship: SCDO:0000664 SCDO:1000017 ! treated with Surgery relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://purl.obolibrary.org/obo/OBI_1110053 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000180 xsd:string [Term] id: OGMS:0000023 name: Phenotype def: "A (combination of) quality(ies) of an organism determined by the interaction of its genetic make-up and environment that differentiates specific instances of a species from other instances of the same species." [] xref: OGMS:0000023 is_a: SCDO:0001000 ! SCDO property_value: SCDO:0000303 "Sub-classes to be added?: -- increased lactate dehydrogenase level (in Ontology of Adverse Events AOE) -- decreased lactate dehydrogenase level (Mammalian Phenotype Ontology) -- Splenomegaly (link this to Spleen Examination) -- Obstructive Hydrocephalus (see \"Cerebellar Hemorrhage\") -- Failure to Thrive (MeSH) -- Cardiac Output, Low (MeSH) -- Cardiac Output, High (MeSH) --\nAdd the sub-class \"Clinical Phenotype\" from Ontology for General Medical Science" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/OGMS?p=classes&conceptid=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FOGMS_0000023 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000893 xsd:string [Term] id: OGMS:0000028 name: Disease Phenotype def: "A clinically abnormal phenotype that is characteristic of a single disease." [] xref: OGMS:0000028 is_a: OGMS:0000023 ! Phenotype property_value: SCDO:0000340 OGMS:0000028 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000185 xsd:string [Term] id: OGMS:0000046 name: Epigenetic Disorder def: "A disorder whose etiology involves (1) a modification to the patient's genomic DNA which leads to alterations in the normal expression pattern of the genome, but is (2) not a change in the nucleotide sequence." [] synonym: "Epigenomic Disorder" EXACT [] xref: OGMS:0000046 is_a: SCDO:0000444 ! Genetic Disease Modifier property_value: SCDO:0000340 http://purl.obolibrary.org/obo/OGMS_0000046 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000439 xsd:string [Term] id: OGMS:0000047 name: Genetic Disorder def: "A disorder whose etiology involves an abnormality in the nucleotide sequence of an organism's genome." [] xref: OGMS:0000047 is_a: DOID:4 ! Disease is_a: SCDO:0000444 ! Genetic Disease Modifier property_value: SCDO:0000340 http://purl.obolibrary.org/obo/OGMS_0000047 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000445 xsd:string [Term] id: OGMS:0000051 name: Constitutional Genetic Disorder def: "A genetic disorder inherited during conception that is part of all cells in the organism." [] xref: OGMS:0000051 is_a: OGMS:0000047 ! Genetic Disorder property_value: SCDO:0000303 "Perhaps remove this class but keep sub-classes? Or include the class \"Acquired Genetic Disorder\" as a sibling of this class if terms are included that can be sub-classes of it?" xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/OGMS_0000051 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000279 xsd:string [Term] id: OGMS:0000088 name: Patient Symptom Report def: "A communication from a patient about something they perceive as being abnormal about their body or life." [] xref: OGMS:0000088 is_a: SCDO:0000738 ! Medical Records property_value: SCDO:0000340 http://purl.obolibrary.org/obo/OGMS_0000088 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000872 xsd:string [Term] id: OPMI:0000023 name: Yes def: "An answer to question where the answer is Yes." [] synonym: "yes answer to question" EXACT [] xref: OPMI:0000023 is_a: NCIT:C91106 ! Clinical or Research Assessment Answer property_value: SCDO:0000340 OPMI:0000023 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000563 xsd:string [Term] id: OPMI:0000024 name: No def: "An answer to question where the answer is No." [] synonym: "no answer to question" EXACT [] xref: OPMI:0000024 is_a: NCIT:C91106 ! Clinical or Research Assessment Answer property_value: SCDO:0000340 OPMI:0000024 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000564 xsd:string [Term] id: OPMI:0000025 name: Do Not Know def: "An answer to question that indicates the response to the specified question is unknown." [] synonym: "Don't know" EXACT [] synonym: "unknown answer to question" EXACT [] xref: OPMI:0000025 is_a: NCIT:C91106 ! Clinical or Research Assessment Answer property_value: SCDO:0000340 OPMI:0000025 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000562 xsd:string [Term] id: OPMI:0000027 name: Refused def: "An answer to question where one declines to answer the specified question." [] synonym: "declined to answer question" EXACT [] synonym: "declined to answer to question" EXACT [] synonym: "Refuse to answer" EXACT [] synonym: "Refused to answer" EXACT [] xref: OPMI:0000027 is_a: NCIT:C91106 ! Clinical or Research Assessment Answer property_value: SCDO:0000340 OPMI:0000027 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000561 xsd:string [Term] id: OPMI:0000028 name: Other def: "An answer to question that is not enumerated in the list and then may be entered with free text in a separate text box" [] synonym: "other answer to question" EXACT [] xref: OPMI:0000028 is_a: NCIT:C91106 ! Clinical or Research Assessment Answer property_value: SCDO:0000340 OPMI:0000028 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000565 xsd:string [Term] id: PR:000001318 name: L-Selectin def: "A protein that is a translation product of the human SELL gene or a 1:1 ortholog thereof. It is a leukocyte adhesion receptor that play an important role in regulating the inflammatory response by mediating leukocyte tethering and rolling on adherent leukocytes." [] comment: L-selection is a serum marker for neutrophil activation. synonym: "CD62 Antigen-Like Family Member L" EXACT [] synonym: "CD62L" EXACT [] synonym: "Lymph Node Homing Receptor" EXACT [] xref: PR:000001318 is_a: NCIT:C26548 ! Gene Product property_value: http://purl.org/dc/elements/1.1/source https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6543649/ property_value: SCDO:0000340 PR:000001318 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000443 xsd:string [Term] id: SBO:0000316 name: MicroRNA def: "Single-stranded RNA molecules thought to regulate the expression of other genes. miRNAs are encoded by genes that are transcribed from DNA but not translated into protein (non-coding RNA)." [] synonym: "miRNA" EXACT [] xref: SBO:0000316 is_a: NCIT:C26548 ! Gene Product property_value: SCDO:0000340 SBO?p=classes&conceptid=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FSBO:0000316 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000756 xsd:string [Term] id: SCDO:0000006 name: Ability to Carry Out Activities of Daily Living def: "The performance of the basic activities of self care, such as dressing, ambulation, or eating." [] synonym: "ADL" EXACT [] synonym: "Daily Living Activities" EXACT [] synonym: "Daily Living Activity" EXACT [] synonym: "Self Care (Rehabilitation)" EXACT [] synonym: "Self-Care" EXACT [] xref: MESH:D000203 is_a: SCDO:0000900 ! Physical Functioning property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D000203 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000006 xsd:string [Term] id: SCDO:0000007 name: Abnormal Hemoglobin in SCD def: "A structurally abnormal hemoglobin that occurs in one or more forms of Sickle Cell Disease (SCD)." [] synonym: "Structurally Abnormal Hemoglobin Present in SCD" EXACT [] is_a: HP:0001877 ! Abnormal Erythrocyte Morphology is_a: SCDO:1000060 ! SCD Molecular Phenotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Probably too specific to SCD be included in other ontologies." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000008 name: deprecated Abnormality of Erythrocytes def: "Abnormality in structure and function of the Red Blood Cell." [] synonym: "Abnormality of Red Blood Cell" EXACT [] synonym: "Abnormality of Red Blood Cells" EXACT [] is_a: SCDO:0000359 ! deprecated terms property_value: SCDO:0000303 "Are there other relevant erythrocyte abnormalities that can be included as children here? If not, this class can be removed and just keep \"Abnormal Hemoglobin\"." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0001877 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string is_obsolete: true [Term] id: SCDO:0000010 name: Acetaminophen def: "Analgesic antipyretic derivative of acetanilide. It has weak anti-inflammatory properties and is used as a common analgesic, but may cause liver, blood cell, and kidney damage." [] synonym: "Paracetamol" EXACT [] synonym: "Tylenol" EXACT [] xref: MESH:D000082 is_a: CHEBI:35493 ! Antipyretic is_a: SCDO:0000809 ! Non Opioid relationship: SCDO:1000018 SCDO:0001056 ! treats Sickle Cell Disease-S Beta Minus Thalassemia relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D000082 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000010 xsd:string [Term] id: SCDO:0000016 name: Acute Complications of Sickle Cell Disease def: "A condition that co-exists or follows from sickle cell disease and that has a severe and rapid onset of symptoms with short duration." [] synonym: "Acute Complications of SCD" EXACT [] is_a: NCIT:C2959 ! Complication is_a: SCDO:0000895 ! Phenotype of Sickle Cell Disease property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: http://purl.org/dc/elements/1.1/source http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C14140 xsd:string property_value: http://purl.org/dc/elements/1.1/source http://purl.bioontology.org/ontology/MESH/Q000150 xsd:string property_value: SCDO:0000303 "Probably too specific to warrant inclusion into anther ontology." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000018 name: Acute Non-Specific Wheezing Episode def: "An acute onset of wheezing in a person with SCD who has no co-morbid asthma." [] comment: Too specific to SCD to be included in other ontologies?\n\nPFTs may be done to asses for airway hyper-responsiveness. is_a: HP:0002086 ! Abnormality of the Respiratory System is_a: SCDO:1000000 ! Acute Phenotype relationship: SCDO:0000663 NCIT:C18772 ! diagnosed using tool Personal Medical History relationship: SCDO:0000663 SCDO:0000898 ! diagnosed using tool Physical Examination relationship: SCDO:0000663 SCDO:0000942 ! diagnosed using tool Pulmonary Function Test property_value: http://purl.org/dc/elements/1.1/source "Cohen et al 2011 Am J Hematol., Glassberg et al 2014 Curr Opin Pediatr., Knight-Madden et al 2014 Ped Resp Rev" xsd:string property_value: SCDO:0000303 "Check and show which source was used for the description and whether the description was adapted from the source. -- Provide source for additional info." xsd:string property_value: SCDO:0000340 "Cohen et al 2011 Am J Hematol., Glassberg et al 2014 Curr Opin Pediatr., Knight-Madden et al 2014 Ped Resp Rev" xsd:string property_value: SCDO:0000661 "Etiology may be unclear. May be related to inflammation of SCD and/or viral lower respiratory tract infection." xsd:string property_value: SCDO:0000662 "Normal Chest X-ray" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000019 name: Acute Sickle Cell Pain Management def: "Sickle cell pain management that aims to heal the acute process." [] synonym: "Acute Sickle Cell Pain Treatment" EXACT [] is_a: SCDO:0001052 ! Sickle Cell Pain Management relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into MESH below \"Pain Management\" / \"Sickle Cell Pain Management\" (also to be suggested for inclusion)" xsd:string property_value: SCDO:0000340 SCDO:1000152 property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000021 name: Acute Upper Respiratory Tract Infection def: "An acute respiratory illness with no lower respiratory tract signs or infiiltrate on chest radiograph." [] synonym: "Acute Upper Respiratory Infection" EXACT [] synonym: "URI" EXACT [] synonym: "URTI" EXACT [] is_a: IDO:0000586 ! Infection relationship: SCDO:0000663 NCIT:C18772 ! diagnosed using tool Personal Medical History relationship: SCDO:0000663 SCDO:0000217 ! diagnosed using tool Chest X-Ray relationship: SCDO:0000663 SCDO:0000898 ! diagnosed using tool Physical Examination relationship: SCDO:0000664 SCDO:0001133 ! treated with Symptomatic Therapeutics relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000024 name: deprecated-Adherence def: "The extent to which a person's behaviour - taking medications, following a diet and/or executing life style changes, corresponds to agreed recommendations by a health care provider." [] synonym: "Adherence to Long Term Therapy" EXACT [] synonym: "Patient Adherence" EXACT [] synonym: "Patient Compliance" EXACT [] synonym: "Patient Cooperation" EXACT [] xref: MESH:D010349 is_a: SCDO:0000359 ! deprecated terms property_value: http://purl.org/dc/elements/1.1/source http://purl.bioontology.org/ontology/MESH/D010349 property_value: SCDO:0000303 "Suggest update to description for \"Patient Compliance\" in MESH." xsd:string property_value: SCDO:0000340 http://www.who.int/chp/knowledge/publications/adherence_full_report.pdf property_value: SCDO:1000288 "Suggest update to description" xsd:string is_obsolete: true replaced_by: SCDO:0000869 [Term] id: SCDO:0000026 name: Adult Migraine Questionnaire def: "A 20-item questionnaire that assesses the frequency of severe headaches, the level of pain, whether the person is taking medications, and associated complications such as nausea." [] xref: phenX:130501 is_a: SCDO:0000760 ! Migraine Questionnaire property_value: SCDO:0000303 "Suggest update to label in PhenX (from \"Migraine - Adult\") as we have done." xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/130501 property_value: SCDO:0000479 "PhenX protocol: Migraine - Adult #130501" xsd:string property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0000028 name: Adverse Drug Event def: "An adverse event that occurs after a drug administration." [] synonym: "ADE" EXACT [] synonym: "ADR" EXACT [] synonym: "Adverse Drug Reaction" EXACT [] synonym: "Drug Adverse Event" EXACT [] xref: OAE:0000005 is_a: SCDO:1000093 ! Adverse Event (AE) property_value: SCDO:0000303 "Should this be a sub-class of \"Environmental Disease Modifier\"?" xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/OAE_0000005 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000028 xsd:string [Term] id: SCDO:0000029 name: Agarose Gel Electrophoresis def: "Electrophoresis in which agar or agarose gel is used as the diffusion medium." [] synonym: "Agar Gel Electrophoresis" EXACT [] xref: MESH:D004587 is_a: SCDO:0000424 ! Electrophoresis property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D004587 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000029 xsd:string [Term] id: SCDO:0000032 name: Agenesis of Corpus Callosum def: "A rare congenital disorder characterized by a partial or complete absence (agenesis) of an area of the brain that connects the two cerebral hemispheres. It can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [] synonym: "Absence of Corpus Callosum" EXACT [] synonym: "Absent Corpus Callosum" EXACT [] synonym: "ACC" EXACT [] synonym: "Agenesis of the Corpus Callosum" EXACT [] synonym: "Callosal Agenesis" EXACT [] synonym: "Corpus Callosum Agenesis" EXACT [] synonym: "Dysplastic or Absent Corpus Callosum" EXACT [] is_a: HP:0002060 ! Abnormality of the Cerebrum relationship: SCDO:0000663 NCIT:C16809 ! diagnosed using tool Magnetic Resonance Imaging relationship: SCDO:0000663 NCIT:C17230 ! diagnosed using tool Ultrasound Test relationship: SCDO:0000664 SCDO:0000443 ! treated with Genetic Counseling relationship: SCDO:0000664 SCDO:0000903 ! treated with Physiotherapy relationship: SCDO:0000664 SCDO:0001129 ! treated with Supportive Therapeutics relationship: SCDO:0000664 SCDO:0001133 ! treated with Symptomatic Therapeutics property_value: SCDO:0000303 "Suggest update to description in HPO.\n\nInclude links to relevant Therapeutics." xsd:string property_value: SCDO:0000340 HP:0001274 property_value: SCDO:0000340 http://rarediseases.org/rare-diseases/agenesis-of-corpus-callosum/ xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000034 name: Alanine Aminotransferase Blood Test def: "A quantitative measurement of alanine aminotransferase present in a blood sample." [] synonym: "Alanine Transaminase Blood Test" EXACT [] synonym: "ALT Blood Test" EXACT [] synonym: "Circulating Alanine Transaminase Test" EXACT [] synonym: "Serum Glutamic-Pyruvic Transaminase Test" EXACT [] synonym: "SGPT Test" EXACT [] xref: NCIT:C64433 is_a: NCIT:C74954 ! Liver Function Test is_a: SCDO:0000133 ! Blood Test relationship: SCDO:1000194 SCDO:0000035 ! measures Alanine Aminotransferase Level property_value: http://purl.org/dc/elements/1.1/source https://medlineplus.gov/ency/article/003473.htm property_value: SCDO:0000303 "Suggest update to description in NCIT (from \"Alanine Aminotransferase Measurement\")" xsd:string property_value: SCDO:0000340 "details" property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000035 name: Alanine Aminotransferase Level def: "The amount of alanine aminotransferase present in a specified volume of blood." [] synonym: "Alanine Aminotransferase Level" EXACT [] synonym: "Alanine Transaminase Level" EXACT [] synonym: "ALT Level" EXACT [] synonym: "Blood Alanine Transaminase Level" EXACT [] synonym: "Circulating Alanine Transaminase Level" EXACT [] synonym: "Serum Glutamic-Pyruvic Transaminase Level" EXACT [] synonym: "SGPT Level" EXACT [] is_a: CMO:0000023 ! Blood Chemistry Measurement relationship: SCDO:1000190 SCDO:0000034 ! obtained via diagnostic tool Alanine Aminotransferase Blood Test relationship: SCDO:1000772 HP:0031964 ! has possible finding Elevated Serum Alanine Aminotransferase relationship: SCDO:1000772 SCDO:1000830 ! has possible finding Normal Serum Alanine Aminotransferase property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000037 name: Albuminuria def: "Increased concentration of albumin in the urine; more than 30mg in 24hours or urine albumin creatinine ratio (ACR) >3 mg/mmol." [] comment: Because albuminuria may be affected by non-pathological factors (exercise, menstruation contamination, biological variability, etc.), abnormal values should be confirmed within 1-2 months. xref: HP:0012592 is_a: SCDO:0000932 ! Proteinuria relationship: SCDO:0000664 SCDO:0000055 ! treated with Angiotensin-Converting Enzyme Inhibitors relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors relationship: SCDO:1000220 SCDO:0001209 ! diagnosed using measurement Urine Albumin Concentration relationship: SCDO:1000220 SCDO:0001210 ! diagnosed using measurement Urine Albumin Excretion Rate relationship: SCDO:1000220 SCDO:0001212 ! diagnosed using measurement Urine Albumin-Creatinine Ratio relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: http://purl.org/dc/elements/1.1/source https://www.phenxtoolkit.org/protocols/view/141501 property_value: SCDO:0000303 "Suggest update to description in HPO." xsd:string property_value: SCDO:0000340 HP:0012592 property_value: SCDO:0000340 http://www.nice.org.uk/guidance/CG182/chapter/introduction xsd:string property_value: SCDO:1000288 "Suggest update to description in HPO." xsd:string [Term] id: SCDO:0000038 name: Alcohol - Lifetime Use def: "An indication of whether the respondent has ever consumed any alcoholic beverage during his or her entire life." [] is_a: NCIT:C81229 ! Alcohol Use History is_a: SCDO:1000318 ! Diagnostic Instrument Measurement relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:1000190 SCDO:1000329 ! obtained via diagnostic tool Alcohol - Lifetime Use Diagnostic Instrument property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "Not relevant to context of sickle cell" xsd:string [Term] id: SCDO:0000042 name: Alpha Thalassemia def: "A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted. A hemoglobinopathy with two clinically significant forms: hemoglobin Bart hydrops fetalis (deletion of all 4 alpha-globin genes; --/--) which is severe and often results in neonatal death; and hemoglobin H disease (most commonly caused by deletion of 3 alpha-globin genes; --/-alpha) which results in hemolytic anemia, splenomegaly and bone changes." [] synonym: "A-Thalassemia" EXACT [] synonym: "Alpha-Thalassemia" EXACT [] synonym: "Thalassemia Alpha" EXACT [] xref: MESH:D017085 is_a: NCIT:C35069 ! Thalassemia is_a: OGMS:0000051 ! Constitutional Genetic Disorder relationship: SCDO:0001364 HP:0000007 ! has mode of inheritance Autosomal Recessive relationship: SCDO:1000005 HP:0005560 ! modified by Imbalanced Hemoglobin Synthesis relationship: SCDO:1000015 SCDO:0000251 ! modifies Clinical Phenotype of Beta Thalassemia relationship: SCDO:1000015 SCDO:0000895 ! modifies Phenotype of Sickle Cell Disease relationship: SCDO:1000172 EUPATH:0000034 ! has causal genotype Alpha Thalassemia Genotype relationship: SCDO:1000210 SCDO:0001386 ! has causal or contributing genetic variation Alpha-Globin Locus Deletion relationship: SCDO:1000218 HP:0001903 ! has manifestation Anemia relationship: SCDO:1000223 SCDO:0001384 ! has causal molecular phenotype Reduced Alpha/Gamma Synthesis Ratio property_value: SCDO:0000303 "Curation completed by the SCDO curator team: Clair." xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D017085 xsd:string property_value: SCDO:0000340 "Origa R, Moi P. Alpha-Thalassemia. 2005 Nov 1 [Updated 2016 Dec 29]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1435/" xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000042 xsd:string [Term] id: SCDO:0000045 name: Alpha-Adrenergic Agents def: "Drugs that selectively bind to and activate alpha adrenergic receptors." [] synonym: "Adrenergic Alpha Agonists" EXACT [] synonym: "Adrenergic Alpha-Agonists" EXACT [] synonym: "Alpha Adrenergic Receptor Agonist" EXACT [] xref: MESH:D000316 is_a: SCDO:0000067 ! Antihypertensive Agents relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D000316 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000045 xsd:string [Term] id: SCDO:0000046 name: Alpha-Globin Locus def: "A region of chromosome 16 that includes five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 -alpha-1 - theta1 - 3'. It is responsible for the creation of the alpha parts (roughly half) of the oxygen transport protein Hemoglobin." [] synonym: "Alpha-Globin Gene Cluster" EXACT [] is_a: SCDO:0000456 ! Globin Locus property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology perhaps below \"Genetic Locus\"/\"Globin Locus\" (also to be included) in MESH." xsd:string property_value: SCDO:0000340 https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=3050 property_value: SCDO:0000340 "synonyms" property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000049 name: Analgesia def: "Methods of pain relief that may be used with or in place of analgesics." [] synonym: "Analgesias" EXACT [] xref: MESH:D000698 is_a: SCDO:0001133 ! Symptomatic Therapeutics relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D000698 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000049 xsd:string [Term] id: SCDO:0000050 name: Analgesic def: "A compound capable of relieving pain without the loss of consciousness." [] synonym: "Analgesic" EXACT [] synonym: "Analgesic Agent" EXACT [] synonym: "Analgesic Drugs" EXACT [] synonym: "Anodynes" EXACT [] synonym: "Antinociceptive Agent" EXACT [] synonym: "Pain Killers" EXACT [] synonym: "Painkiller" EXACT [] synonym: "Painkillers" EXACT [] xref: MESH:D000700 is_a: CHEBI:23888 ! Drug is_a: SCDO:0001133 ! Symptomatic Therapeutics relationship: SCDO:1000018 HP:0001342 ! treats Cerebral Hemorrhage relationship: SCDO:1000018 HP:0001369 ! treats Arthritis relationship: SCDO:1000018 HP:0001382 ! treats Joint Hypermobility relationship: SCDO:1000018 HP:0002653 ! treats Bone Pain relationship: SCDO:1000018 HP:0002829 ! treats Arthralgia relationship: SCDO:1000018 HP:0003198 ! treats Myopathy relationship: SCDO:1000018 HP:0003302 ! treats Spondylolisthesis relationship: SCDO:1000018 HP:0003418 ! treats Back Pain relationship: SCDO:1000018 HP:0004586 ! treats Biconcave Vertebral Bodies relationship: SCDO:1000018 HP:0010885 ! treats Osteonecrosis relationship: SCDO:1000018 HP:0011868 ! treats Sciatica relationship: SCDO:1000018 HP:0030127 ! treats Endometriosis relationship: SCDO:1000018 HP:0100774 ! treats Hyperostosis relationship: SCDO:1000018 SYMP:0019161 ! treats Muscle Pain relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D000700 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000050 xsd:string [Term] id: SCDO:0000053 name: Anesthetic Complication AE def: "An adverse drug event that results in unexpected and unwanted events due to anesthetic drug treatment." [] xref: OAE:0002348 is_a: SCDO:0000028 ! Adverse Drug Event property_value: SCDO:0000340 http://purl.obolibrary.org/obo/OAE_0002348 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000053 xsd:string [Term] id: SCDO:0000054 name: Angioid Streaks def: "Grayish, brown, or dark red streaks caused by cracks in Bruch's membrane that are histologically characterized by calcium deposition. Angioid streaks are most characteristic of sickle cell anemia and can occur to a lesser extent in other sickle cell syndromes, but not in sickle cell trait." [] xref: DOID:13401 is_a: HP:0000478 ! Abnormality of the Eye is_a: NCIT:C115319 ! Ophthalmologic Complication relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada property_value: SCDO:0000303 "Suggest update to description in DO. Currently no description." xsd:string property_value: SCDO:0000340 "Ballas et al 2010 Am J Hematol" xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000055 name: Angiotensin-Converting Enzyme Inhibitors def: "A class of drugs whose main indications are the treatment of hypertension and heart failure. They exert their hemodynamic effect mainly by inhibiting the renin-angiotensin system. They also modulate sympathetic nervous system activity and increase prostaglandin synthesis. They cause mainly vasodilation and mild natriuresis without affecting heart rate and contractility." [] synonym: "ACE" EXACT [] synonym: "ACE Inhibitors" EXACT [] synonym: "Angiotensin Converting Enzyme" EXACT [] synonym: "Angiotensin Converting Enzyme Inhibitors" EXACT [] xref: MESH:D000806 is_a: SCDO:0000067 ! Antihypertensive Agents relationship: SCDO:1000018 HP:0000112 ! treats Nephropathy relationship: SCDO:1000018 HP:0003126 ! treats Tubular Proteinuria relationship: SCDO:1000018 SCDO:0000037 ! treats Albuminuria relationship: SCDO:1000018 SCDO:0000796 ! treats Nephrotic Syndrome relationship: SCDO:1000018 SCDO:0000797 ! treats Nephrotic Range Proteinuria relationship: SCDO:1000018 SCDO:0000932 ! treats Proteinuria relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D000806 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000055 xsd:string [Term] id: SCDO:0000056 name: Annual Family Income def: "The respondent's total family income from the last calendar year." [] xref: phenX:11100 is_a: NCIT:C16495 ! Demographic Factor is_a: SCDO:0001090 ! Socioeconomic Factors is_a: SCDO:1000157 ! Quality of Life Related Personal Attribute relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:0001297 SCDO:0000574 ! has essential measure Household Roster-Relationships property_value: SCDO:0000303 "Request inclusion into MESH below \"Income\".\n\nThe PhenX protocol is U.S. specific. Is there one relevant to the African setting?" xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/11101 property_value: SCDO:0000479 "PhenX protocol: Annual Family Income #11101" xsd:string property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:0000057 name: Anti-Inflammatory Agent def: "Substance that reduces or suppresses inflammation." [] synonym: "Anti Inflammatories" EXACT [] synonym: "Anti Inflammatory Agents" EXACT [] synonym: "Anti-Inflammatories" EXACT [] synonym: "Anti-Inflammatory Agents" EXACT [] synonym: "Anti-Inflammatory Drug" EXACT [] synonym: "Antiinflammatories" EXACT [] synonym: "Antiinflammatory Agents" EXACT [] xref: MESH:D000893 is_a: SCDO:0000809 ! Non Opioid relationship: SCDO:1000018 HP:0000132 ! treats Menorrhagia relationship: SCDO:1000018 HP:0001382 ! treats Joint Hypermobility relationship: SCDO:1000018 HP:0002653 ! treats Bone Pain relationship: SCDO:1000018 HP:0002725 ! treats Systemic Lupus Erythematosus relationship: SCDO:1000018 HP:0002829 ! treats Arthralgia relationship: SCDO:1000018 HP:0003198 ! treats Myopathy relationship: SCDO:1000018 HP:0003302 ! treats Spondylolisthesis relationship: SCDO:1000018 HP:0003418 ! treats Back Pain relationship: SCDO:1000018 HP:0011868 ! treats Sciatica relationship: SCDO:1000018 HP:0100774 ! treats Hyperostosis relationship: SCDO:1000018 SYMP:0019161 ! treats Muscle Pain relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D000893 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000057 xsd:string [Term] id: SCDO:0000066 name: Antihistamine def: "Drugs that bind to but do not activate histamine receptors, thereby blocking the actions of histamine or histamine agonists. Classical antihistaminics block the histamine H1 receptors only." [] synonym: "Antihistamines" EXACT [] synonym: "Histamine Antagonist" EXACT [] synonym: "Histamine Antagonists" EXACT [] xref: MESH:D006633 is_a: CHEBI:23888 ! Drug is_a: SCDO:0001133 ! Symptomatic Therapeutics relationship: SCDO:1000018 SCDO:0001073 ! treats Skin Rash relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D006633 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000066 xsd:string [Term] id: SCDO:0000067 name: Antihypertensive Agents def: "Used in the treatment of acute or chronic vascular hypertension regardless of pharmacological mechanism. Among the antihypertensive agents are diuretics; (especially diuretics, thiazide); adrenergic aeta-antagonists; adrenergic alpha-antagonistics; angiotensin-converting enzyme inhibitors; calcium channel blockers; ganglionic blockers; and vasodilator agents." [] synonym: "Agents, Antihypertensive" EXACT [] synonym: "Anti Hypertensive Agent" EXACT [] synonym: "Anti-Hypertensives" EXACT [] synonym: "Antihypertensive Drug" EXACT [] synonym: "Antihypertensive Drugs" EXACT [] synonym: "Antihypertensives" EXACT [] xref: MESH:D000959 is_a: CHEBI:23888 ! Drug is_a: SCDO:0001129 ! Supportive Therapeutics relationship: SCDO:1000018 HP:0002076 ! treats Migraine relationship: SCDO:1000018 HP:0002170 ! treats Intracranial Hemorrhage relationship: SCDO:1000018 HP:0100601 ! treats Eclampsia relationship: SCDO:1000018 SCDO:0000226 ! treats Chronic Kidney Disease property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D000959 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000067 xsd:string [Term] id: SCDO:0000069 name: APOL1 def: "This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Variants in the APOL1 gene can influence susceptibility to end-stage renal disease and Trypanosomiasis (African Sleeping Sickness)." [] synonym: "APO-L" EXACT [] synonym: "APOL" EXACT [] synonym: "APOL1 Gene" EXACT [] synonym: "Apolipoprotein L1 Gene" EXACT [] is_a: SCDO:0000810 ! Non-Globin Gene property_value: SCDO:0000303 "Exists in other ontologies but we have provided a description more relevant to its relationship with SCD." xsd:string property_value: SCDO:0000340 http://www.ncbi.nlm.nih.gov/gene/8542 xsd:string property_value: SCDO:1000288 "Not relevant to context of sickle cell" xsd:string [Term] id: SCDO:0000070 name: Aquatic Rehabilitation def: "Exercises performed in or underwater for conditioning or rehabilitation (e.g., in injured athletes or patients with joint diseases)." [] synonym: "Aqua Therapy" EXACT [] synonym: "Hydrotherapy" EXACT [] is_a: SCDO:0000978 ! Rehabilitation property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://medical-dictionary.thefreedictionary.com/aquatic+therapy xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000071 name: Arterial Blood Gas Test def: "A hematology assay that measures the acidity (pH) and the levels of oxygen and carbon dioxide in the blood from an artery. This test is used to check how well the lungs are able to move oxygen into the blood and remove carbon dioxide from the blood." [] synonym: "ABG Test" EXACT [] xref: ERO:0000533 is_a: SCDO:0000133 ! Blood Test relationship: SCDO:1000194 SCDO:0000849 ! measures Arterial Oxygen Saturation property_value: SCDO:0000340 ERO:0000533 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000071 xsd:string [Term] id: SCDO:0000072 name: Arteriovenous Malformation def: "Abnormal formation of blood vessels that shunt arterial blood directly into veins without passing through the CAPILLARIES. They usually are crooked, dilated, and with thick vessel walls. A common type is the congenital arteriovenous fistula. The lack of blood flow and oxygen in the capillaries can lead to tissue damage in the affected areas." [] synonym: "Arteriovenous Malformations" EXACT [] xref: MESH:D001165 is_a: HP:0030680 ! Abnormal Cardiovascular System Morphology property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D001165 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000072 xsd:string [Term] id: SCDO:0000073 name: Artesunate def: "A water-soluble, semi-synthetic derivative of the sesquiterpene lactone artemisinin with anti-malarial, anti-schistosomiasis, antiviral, and potential anti-neoplastic activities." [] synonym: "Artesunic Acid" EXACT [] synonym: "Dihydroartemisinine 12 Alpha Succinate" EXACT [] xref: MESH:D000077332 is_a: IDOMAL:0000122 ! Malaria Chemoprophylaxis is_a: SCDO:0001129 ! Supportive Therapeutics property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D000077332 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000073 xsd:string [Term] id: SCDO:0000078 name: deprecated ASCQ-Me Score def: "The score obtained from the Adult Sickle Cell Quality-of-Life Measurement Information System (ASCQ-Me)." [] synonym: "ASCQ-Me - Quality of Life in SCD" EXACT [] synonym: "Sickle Cell Disease Adult Quality of Life Questionnaire Assessment Score" EXACT [] is_a: SCDO:0000359 ! deprecated terms property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source http://www.phenxtoolkit.org/index.php?pageLink=browse.protocoldetails&id=820201 xsd:string property_value: SCDO:0000303 "Is this term acceptable? \nIf so, request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string is_obsolete: true replaced_by: SCDO:1000296 [Term] id: SCDO:0000079 name: Aspartate Aminotransferase Blood Test def: "A bioassay to measure levels of aspartate aminotransferase (AST), which is released into the blood following tissue damage." [] synonym: "Aspartate Transaminase Blood Test" EXACT [] synonym: "AST Blood Test" EXACT [] synonym: "Serum AST Blood Test" EXACT [] xref: phenX:811201 is_a: NCIT:C74954 ! Liver Function Test is_a: SCDO:0000133 ! Blood Test is_a: SCDO:0000500 ! Heart Function Test relationship: SCDO:1000194 SCDO:0000080 ! measures Aspartate Aminotransferase Level property_value: SCDO:0000303 "Suggest update to PhenX label (\"Aspartate Aminotransferase Level\") also to NCIT label (from \"Aspartate Aminotransferase Measurement\")" xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/811201 property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0000080 name: Aspartate Aminotransferase Level def: "The amount of aspartate aminotransferase present in a specified volume of blood." [] synonym: "Aspartate Transaminase Level" EXACT [] synonym: "AST Level" EXACT [] synonym: "Blood Aspartate Transaminase Amount" EXACT [] is_a: CMO:0000023 ! Blood Chemistry Measurement relationship: SCDO:0001297 NCIT:C16564 ! has essential measure Ethnic Group relationship: SCDO:0001297 NCIT:C17049 ! has essential measure Race relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:1000190 SCDO:0000079 ! obtained via diagnostic tool Aspartate Aminotransferase Blood Test relationship: SCDO:1000772 HP:0031956 ! has possible finding Elevated Serum Aspartate Aminotransferase relationship: SCDO:1000772 SCDO:1000831 ! has possible finding Normal Serum Aspartate Aminotransferase property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000081 name: ASCQ-Me - Quality of Care in SCD def: "A set of 27 questions administered to adults with sickle cell disease (SCD) to determine the quality of care that they have received from health care providers." [] synonym: "ASCQ-Me Quality of Care Module" EXACT [] is_a: SCDO:0000947 ! Quality of Care Measure property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: http://purl.org/dc/elements/1.1/source "Keller, S. D., Yang, M., Treadwell, M. J., Werner, E. M., & Hassell, K. L. (2014). Patient reports of health outcome for adults living with sickle cell disease: Development and testing of the ASCQ-Me item banks. Health and Quality of Life Outcomes, 12(1), 125. doi:10.1186/s12955-014-0125-0" xsd:string property_value: SCDO:0000303 "Suggest update to label in PhenX (from \"Quality of Care\")" xsd:string property_value: SCDO:0000340 http://www.phenxtoolkit.org/index.php?pageLink=browse.protocoldetails&id=820101 xsd:string property_value: SCDO:0000479 "PhenX protocol: Quality of Care - Adults #820101" xsd:string property_value: SCDO:0000481 "Self" xsd:string property_value: SCDO:0000482 "Clinic Patients (Adults with SCD)" xsd:string property_value: SCDO:0000486 "These questions are used to assess the patient-reported health care needs and quality of service from health care providers for individuals with chronic conditions such as sickle cell disease (SCD)." xsd:string property_value: SCDO:0001222 "18 and older" xsd:string property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0000082 name: Diagnostic Technique, Method, Test or Assay def: "A planned process with the objective of producing diagnostic information about the material entity that is the evaluant, by physically examining it or its proxies." [] synonym: "Diagnostic Assay" EXACT [] synonym: "Diagnostic Method" EXACT [] synonym: "Diagnostic Technique" EXACT [] synonym: "Diagnostic Test" EXACT [] is_a: SCDO:1000032 ! Diagnostic Tool property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source http://purl.obolibrary.org/obo/OBI_0000070 xsd:string property_value: SCDO:0000303 "Possibly too specifiic to this ontology to be included in another ontology?\nUse structuring of sub-classes within MESH's \"Diagnostic Techniques and Procedures\" and NCIT's \"Diagnostic Procedure\" to inform structuring of terms in this class." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000084 name: Assessment of Short-Axis Cardiac Function by MRI def: "This measure is a magnetic resonance imaging (MRI) method of capturing an individual's heart performance, and is considered the gold standard for capturing ventricular volumes and mass. It is used to detect cardiac abnormalities, such as cardiomyopathies, myocardial fibrosis, and infarction." [] synonym: "MRI of Short-Axis Cardiac Function" EXACT [] is_a: NCIT:C16809 ! Magnetic Resonance Imaging is_a: SCDO:0000500 ! Heart Function Test property_value: SCDO:0000303 "Request inclusion into relevant ontology. Perhaps in the CPT." xsd:string property_value: SCDO:0000340 http://www.phenxtoolkit.org/toolkit_content/supplemental_info/scd_cardio_pulm_renal/measures/Short_Axis_Function_20May2015.doc xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000086 name: Asthma def: "A form of bronchial disorder with three distinct components: airway hyper-responsiveness, airway inflammation, and intermittent airway obstruction. It is characterized by spasmodic contraction of airway smooth muscle, wheezing and dyspnea." [] xref: MESH:D001249 is_a: HP:0002086 ! Abnormality of the Respiratory System is_a: SCDO:0000954 ! Quality of Life Related SCD Symptoms and Complications relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000303 "Further work:\nis caused by links to be moved to object property links" xsd:string property_value: SCDO:0000303 "Include a copy of this term below \"Comorbid Disease\" and/or below \"Respiratory System\"." xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D001249 xsd:string property_value: SCDO:0000661 "Airway hyper-responsiveness" xsd:string property_value: SCDO:0000661 "Airway inflammation" xsd:string property_value: SCDO:0000661 "Intermittent airway obstruction" xsd:string property_value: SCDO:0000662 "It is characterized by spasmodic contraction of airway smooth muscle, wheezing and dyspnea." xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000086 xsd:string [Term] id: SCDO:0000088 name: Atopic Dermatitis def: "A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema." [] synonym: "Atopic Eczema" EXACT [] synonym: "Baby Eczema" EXACT [] synonym: "Infantile Eczema" EXACT [] xref: MESH:D003876 is_a: HP:0011123 ! Skin Inflammation relationship: SCDO:0000664 NCIT:C258 ! treated with Antibiotic property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D003876 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000088 xsd:string [Term] id: SCDO:0000094 name: BCL11A def: "This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene." [] synonym: "B-cell CLL/lymphoma 11A (zinc finger protein)" EXACT [] synonym: "B-Cell CLL/Lymphoma 11A Gene" EXACT [] synonym: "B-cell CLL/lymphoma 11A Gene" EXACT [] synonym: "BAF Chromatin Remodeling Complex Subunit BCL11A Gene" EXACT [] synonym: "BCL-11A Gene" EXACT [] synonym: "BCL11A Gene" EXACT [] synonym: "Fetal Hemoglobin Quantitative Trait Locus 5" EXACT [] synonym: "HBFQTL5" EXACT [] is_a: SCDO:0000810 ! Non-Globin Gene relationship: SCDO:1000015 SCDO:1000707 ! modifies Hemoglobin F Level property_value: SCDO:0000303 "Link to \"Hereditary Persistence of fetal hemoglobin\"." xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://www.ncbi.nlm.nih.gov/gene/53335 xsd:string property_value: SCDO:1000288 "Not relevant to context of sickle cell" xsd:string [Term] id: SCDO:0000098 name: Bacteria def: "One of the three domains of life (the others being Eukarya and ARCHAEA), also called Eubacteria. They are unicellular prokaryotic microorganisms which generally possess rigid cell walls, multiply by cell division, and exhibit three principal forms: round or coccal, rodlike or bacillary, and spiral or spirochetal. Bacteria can be classified by their response to oxygen: aerobic, anaerobic, or facultatively anaerobic; by the mode by which they obtain their energy: chemotrophy (via chemical reaction) or phototrophy (via light reaction); for chemotrophs by their source of chemical energy: chemolithotrophy (from inorganic compounds) or chemoorganotrophy (from organic compounds); and by their source for carbon; nitrogen; etc.; heterotrophy (from organic sources) or autotrophy (from carbon dioxide). They can also be classified by whether or not they stain (based on the structure of their cell walls) with crystal violet dye: gram-negative or gram-positive." [] xref: MESH:D001419 is_a: OBI:0000925 ! Infectious Agent property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D001419 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000098 xsd:string [Term] id: SCDO:0000102 name: Beck Anxiety Inventory (BAI) def: "The BAI is the most widely used instument for measuring anxiety. It consists of 21 items to assess how bothersome a symptom of anxiety has been for the subject over the past month. Scoring the BAI is based on a 0-3 point scale with higher scores indicating severity." [] synonym: "BAI" EXACT [] synonym: "Beck Anxiety Inventory" EXACT [] is_a: SCDO:0000953 ! Quality of Life Measure is_a: SCDO:1000297 ! Quality of Life and Care Diagnostic Instrument property_value: SCDO:0000303 "Request inclusion into relevant ontology. Could be as a child of \"Symptom Specific Assessment Tool\" in the NCIT." xsd:string property_value: SCDO:0000340 "Beck, A. T., Epstein, N., Brown, G., & Steer, R. A. (1988). An inventory for measuring clinical anxiety: psychometric properties. Journal of Consulting and Clinical Psychology, 56, 893-897." xsd:string property_value: SCDO:0000470 "Multiple countries and cultural groups" xsd:string property_value: SCDO:0000481 "Self" xsd:string property_value: SCDO:0000482 "Clinic Patients" xsd:string property_value: SCDO:0000484 "Spanish" xsd:string property_value: SCDO:0001222 "17 years and older" xsd:string property_value: SCDO:0001335 "yes" xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000104 name: Behavior Rating Inventory of Executive Function def: "The Behavior Rating Inventory of Executive Function (BRIEF) is a detailed questionnaire designed to assess executive function behaviors of children and adolescents in the school and home environments. The BRIEF is completed by parents and teachers." [] synonym: "BRIEF" EXACT [] synonym: "Executive Function - Child" EXACT [] xref: phenX:131102 is_a: SCDO:0001304 ! Executive Function Measure property_value: SCDO:0000303 "Suggest update to label in PhenX." xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/131102 property_value: SCDO:0000479 "PhenX protocol: #131102" xsd:string property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0000106 name: Behaviour def: "The actions or reactions of a person in response to a situation or stimuli." [] is_a: SCDO:0000746 ! Mental Health property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:1000288 "Few but definitions not specific enough" xsd:string [Term] id: SCDO:0000107 name: Beliefs About Causes of Illness def: "Personal or collective understanding of what the causes (could be predisposing factors, enabling factors, precipitating factors, reinforcing factors, and/or risk factors) are of a certain illness." [] comment: Cultural beliefs, such as re-incarnation and witchcraft, may influence notions on causality of sickle cell disease. synonym: "Beliefs about Causality" EXACT [] is_a: SCDO:0000488 ! Health Beliefs property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source http://purl.bioontology.org/ontology/MESH/D015984 xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000108 name: Beliefs About Remedies and Treatment def: "Personal or collective understanding of what can remedy or treat illness." [] is_a: SCDO:0000488 ! Health Beliefs property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: http://purl.org/dc/elements/1.1/source http://www.ncbi.nlm.nih.gov/mesh/68003469 xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology, perhaps MESH." xsd:string property_value: SCDO:1000288 "none" xsd:string [Term] id: SCDO:0000110 name: Beta Minus Thalassemia def: "A beta-thalassemia caused by the reduced (beta-) synthesis of the beta globin chains of the hemoglobin (Hb) tetramer." [] synonym: "Beta - Thalassemia" EXACT [] synonym: "Beta Minus-Thalassemia" EXACT [] synonym: "Beta- Thalassemia" EXACT [] synonym: "Beta-Minus-Thalassemia" EXACT [] is_a: SCDO:0000111 ! Beta Thalassemia relationship: SCDO:0000663 NCIT:C15709 ! diagnosed using tool Genetic Testing relationship: SCDO:0000663 NCIT:C79903 ! diagnosed using tool Blood Smear relationship: SCDO:0000663 SCDO:0000547 ! diagnosed using tool Hemoglobin Profile Assay relationship: SCDO:0001364 HP:0000007 ! has mode of inheritance Autosomal Recessive relationship: SCDO:1000172 SCDO:0001765 ! has causal genotype Beta-Minus Thalassemia Mutation relationship: SCDO:1000223 SCDO:0000976 ! has causal molecular phenotype Reduced Hemoglobin A property_value: SCDO:0000303 "Request inclusion into relevant ontology, perhaps DOID." xsd:string property_value: SCDO:0000340 "A. Cao and R. Galanello, \"Beta Thalassemia\", Genetics in Medicine, Vol. 12, No. 2, 2010, pp. 61 76. doi:10.1097/GIM.0b013e3181cd68ed" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000111 name: Beta Thalassemia def: "A hemoglobinopathy characterized by the reduced (beta plus) or absent (beta zero) synthesis of the beta globin chains of hemoglobin, resulting in variable outcomes ranging from severe anemia to clinically asymptomatic individuals." [] synonym: "Beta Thalassemias" EXACT [] synonym: "Beta Type Thalassemia" EXACT [] synonym: "Beta-Thalassemia" EXACT [] synonym: "Beta-Thalassemias" EXACT [] synonym: "Hemoglobin F Disease" EXACT [] synonym: "Mediterranean Anemia" EXACT [] xref: DOID:12241 is_a: NCIT:C35069 ! Thalassemia is_a: OGMS:0000051 ! Constitutional Genetic Disorder relationship: SCDO:0001364 HP:0000007 ! has mode of inheritance Autosomal Recessive relationship: SCDO:1000172 SCDO:0007624 ! has causal genotype Beta Thalassemia Genotype relationship: SCDO:1000223 HP:0011906 ! has causal molecular phenotype Reduced Beta/Alpha Synthesis Ratio relationship: SCDO:1000223 SCDO:1000240 ! has causal molecular phenotype Reduced or Absent Hemoglobin A relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives property_value: SCDO:0000303 "Suggest update to description in DOID.\n\nInclude a \"Dominant Beta-Thalassemia\" sub-class? (see Orphanet)" xsd:string property_value: SCDO:0000340 "A. Cao and R. Galanello, \"Beta Thalassemia\", Genetics in Medicine, Vol. 12, No. 2, 2010, pp. 61 76. doi:10.1097/GIM.0b013e3181cd68ed" xsd:string property_value: SCDO:0000340 http://en.wikipedia.org/wiki/Beta_thalassemia xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/DOID_12241 xsd:string property_value: SCDO:0000340 "Origa R. Beta-Thalassemia. 2000 Sep 28 [Updated 2018 Jan 25]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1426/" xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000112 name: Beta Thalassemia Intermedia def: "A homozygous (B+/B+) or compound heterozygous (B0/B+) form of beta-thalassemia characterized by mild to moderate anemia which does not or only occasionally requires transfusion." [] synonym: "B+/B+" EXACT [] synonym: "B0/B+" EXACT [] synonym: "Beta-Thalassemia Intermedia" EXACT [] synonym: "Thalassemia Intermedia" EXACT [] xref: ORPHA:231222 is_a: SCDO:0000251 ! Clinical Phenotype of Beta Thalassemia relationship: SCDO:0000663 NCIT:C15709 ! diagnosed using tool Genetic Testing relationship: SCDO:0000663 NCIT:C79903 ! diagnosed using tool Blood Smear relationship: SCDO:0000663 SCDO:0000547 ! diagnosed using tool Hemoglobin Profile Assay relationship: SCDO:1000218 HP:0000952 ! has manifestation Jaundice relationship: SCDO:1000218 HP:0001081 ! has manifestation Cholelithiasis relationship: SCDO:1000218 HP:0001640 ! has manifestation Cardiomegaly relationship: SCDO:1000218 HP:0001744 ! has manifestation Splenomegaly relationship: SCDO:1000218 HP:0001903 ! has manifestation Anemia relationship: SCDO:1000218 HP:0002149 ! has manifestation Hyperuricemia relationship: SCDO:1000218 NCIT:C78393 ! has manifestation Iron Overload relationship: SCDO:1000218 SCDO:0000685 ! has manifestation Leg Ulcer relationship: SCDO:1000218 SCDO:0006905 ! has manifestation Hypersplenism property_value: SCDO:0000340 Orphanet:231222 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000112 xsd:string [Term] id: SCDO:0000113 name: Beta Thalassemia Major def: "A severe early-onset form of beta thalassemia characterized by severe anemia requiring regular red blood cell transfusions." [] synonym: "B0/B0" EXACT [] synonym: "Beta-Thalassemia Major" EXACT [] synonym: "BT Major" EXACT [] synonym: "Cooley Anemia" EXACT [] synonym: "Cooley's Anemia" EXACT [] synonym: "Mediterranean Anemia" EXACT [] synonym: "Thalassemia Major" EXACT [] xref: ORPHA:231214 is_a: SCDO:0000251 ! Clinical Phenotype of Beta Thalassemia relationship: SCDO:0000663 NCIT:C15709 ! diagnosed using tool Genetic Testing relationship: SCDO:0000663 NCIT:C79903 ! diagnosed using tool Blood Smear relationship: SCDO:0000663 SCDO:0000547 ! diagnosed using tool Hemoglobin Profile Assay relationship: SCDO:1000218 HP:0000819 ! has manifestation Diabetes Mellitus relationship: SCDO:1000218 HP:0000821 ! has manifestation Hypothyroidism relationship: SCDO:1000218 HP:0000823 ! has manifestation Delayed Puberty relationship: SCDO:1000218 HP:0000939 ! has manifestation Osteoporosis relationship: SCDO:1000218 HP:0001081 ! has manifestation Cholelithiasis relationship: SCDO:1000218 HP:0001744 ! has manifestation Splenomegaly relationship: SCDO:1000218 HP:0001903 ! has manifestation Anemia relationship: SCDO:1000218 HP:0002007 ! has manifestation Frontal Bossing relationship: SCDO:1000218 HP:0012418 ! has manifestation Hypoxemia relationship: SCDO:1000218 IDO:0000586 ! has manifestation Infection relationship: SCDO:1000218 MP:0002412 ! has manifestation Increased Susceptibility to Bacterial Infection relationship: SCDO:1000218 NCIT:C2890 ! has manifestation Bacterial Infection relationship: SCDO:1000218 NCIT:C3439 ! has manifestation Viral Infection relationship: SCDO:1000218 NCIT:C78393 ! has manifestation Iron Overload relationship: SCDO:1000218 SCDO:0000465 ! has manifestation Growth Delay relationship: SCDO:1000218 SCDO:0000685 ! has manifestation Leg Ulcer relationship: SCDO:1000218 SCDO:0000943 ! has manifestation Pulmonary Hypertension relationship: SCDO:1000218 SCDO:0005167 ! has manifestation Chronic Anemia relationship: SCDO:1000218 SCDO:0006905 ! has manifestation Hypersplenism property_value: SCDO:0000340 Orphanet:231214 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000113 xsd:string [Term] id: SCDO:0000114 name: Beta Thalassemia Trait def: "The inheritance of only one mutated beta-globin allele (beta+ or beta0)." [] synonym: "B-/B" EXACT [] synonym: "B0/B" EXACT [] synonym: "Beta Thalassemia Minor" EXACT [] synonym: "Beta-Thalassemia Trait" EXACT [] synonym: "Heterozygosity for Beta-Thalassemia" EXACT [] synonym: "Heterozygous Beta-Thalassemia" EXACT [] is_a: SCDO:0000251 ! Clinical Phenotype of Beta Thalassemia is_a: SCDO:0000551 ! Thalassemia Trait relationship: SCDO:1000015 NCIT:C95504 ! modifies Hemoglobin H Disease relationship: SCDO:1000172 SCDO:0009731 ! has causal genotype Beta Thalassemia Mutation property_value: SCDO:0000303 "Request inclusion into relevant ontology. Perhaps below \"clinical subtype\" in Orphanet.\n\nThe exact synonym \"B+/B\" has been changed to \"B-/B\", as per the change in convention from \"Beta Plus Thalassemia\" to \"Beta Minus Thalassemia\"." xsd:string property_value: SCDO:0000340 http://en.wikipedia.org/wiki/Beta_thalassemia xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000115 name: Beta Zero Thalassemia def: "Beta-zero thalassemia is a form of beta-thalassemia in which beta-globin chain synthesis is absent. The clinical phenotype is often that of transfusion-dependant beta thalassemia major, however modifying factors may ameliorate the symptoms of severe anemia (Cao & Gallanelo, 2010)." [] synonym: "Beta 0 Thalassemia" EXACT [] synonym: "Beta Zero-Thalassemia" EXACT [] synonym: "Beta-Zero-Thalassemia" EXACT [] synonym: "Beta0 Thalassemia" EXACT [] synonym: "Hb Beta Zero-Thalassemia" EXACT [] synonym: "Hb F only" EXACT [] is_a: SCDO:0000111 ! Beta Thalassemia relationship: SCDO:0000663 NCIT:C15709 ! diagnosed using tool Genetic Testing relationship: SCDO:0000663 NCIT:C79903 ! diagnosed using tool Blood Smear relationship: SCDO:0000663 SCDO:0000547 ! diagnosed using tool Hemoglobin Profile Assay relationship: SCDO:0000664 SCDO:0001329 ! treated with Folic Acid relationship: SCDO:0000664 SCDO:0008888 ! treated with Iron Chelation Therapy relationship: SCDO:0001364 HP:0000007 ! has mode of inheritance Autosomal Recessive relationship: SCDO:1000172 SCDO:0002475 ! has causal genotype Beta-Zero Thalassemia Mutation relationship: SCDO:1000223 SCDO:1000241 ! has causal molecular phenotype Absent Hemoglobin A property_value: SCDO:0000303 "Request inclusion into relevant ontology, perhaps DOID." xsd:string property_value: SCDO:0000340 "A. Cao and R. Galanello, \"Beta Thalassemia\", Genetics in Medicine, Vol. 12, No. 2, 2010, pp. 61 76. doi:10.1097/GIM.0b013e3181cd68ed" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000116 name: Beta-Globin Locus def: "A globin locus composed of five genes located on a short 45 kb region of chromosome 11. The order of genes in this cluster is: 5' - epsilon - gamma-G - gamma-A - delta - beta - 3'. It is responsible for the creation of the beta parts (roughly half) of the oxygen transport protein Hemoglobin." [] synonym: "Beta-Globin Cluster" EXACT [] synonym: "Beta-Globin Gene Cluster" EXACT [] synonym: "HBB Locus" EXACT [] is_a: SCDO:0000456 ! Globin Locus property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology perhaps below \"Genetic Locus\"/\"Globin Locus\" (also to be included) in MESH." xsd:string property_value: SCDO:0000340 https://en.wikipedia.org/wiki/HBD property_value: SCDO:0000340 https://en.wikipedia.org/wiki/Human_%CE%B2-globin_locus property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000117 name: Beta-Globin Haplotype def: "Defined arrays of polymorphic gene sites that are inherited together across the genetic vicinity of the beta-globin gene or gene cluster on chromosome 11." [] synonym: "Beta-Globin Haplotypes" EXACT [] synonym: "Beta-Haplotypes" EXACT [] synonym: "Beta-S Haplotype" EXACT [] synonym: "Beta-S Haplotypes" EXACT [] is_a: NCIT:C63547 ! Haplotype relationship: SCDO:1000015 SCDO:0000895 ! modifies Phenotype of Sickle Cell Disease relationship: SCDO:1000015 SCDO:1000707 ! modifies Hemoglobin F Level property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "Nagel, et. al. NEngl J Med. 1985 Apr 4;312(14):880-4" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000119 name: Bilirubin Blood Test def: "A bioassay to measure levels of bilirubin, a yellow substance found in bile produced when the liver breaks down old red blood cells." [] xref: phenX:810901 is_a: NCIT:C74954 ! Liver Function Test is_a: SCDO:0000133 ! Blood Test relationship: SCDO:0001297 NCIT:C16564 ! has essential measure Ethnic Group relationship: SCDO:0001297 NCIT:C17049 ! has essential measure Race relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:1000194 CMO:0000123 ! measures Blood Bilirubin Level property_value: SCDO:0000303 "Suggest update to label in PhenX (from \"Bilirubin Level\")." xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/810901 property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0000120 name: Biochemical Assay def: "An analytical in vitro procedure used to detect, quantify and/or study the binding or activity of a biological molecule, such as an enzyme." [] is_a: SCDO:0000216 ! Chemical Assay property_value: SCDO:0000303 "Request inclusion into relevant ontology." xsd:string property_value: SCDO:0000340 http://www.nature.com/subjects/biochemical-assays xsd:string property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:0000122 name: Biological Disease Modifier def: "A biological factor that modifies one or more aspects of a disease, such as sickle cell disease (SCD) (e.g. aspects such as temporal pattern, age of onset and mortality), for specific phenotype(s) of the disease." [] is_a: SCDO:0000391 ! Disease Modifier property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000123 name: Birthplace def: "The country in which the respondent was born." [] synonym: "Place of Birth" EXACT [] is_a: NCIT:C16495 ! Demographic Factor property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://www.phenxtoolkit.org/index.php?pageLink=browse.protocols&id=010200 xsd:string property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:0000124 name: Birthplace of Biological Father def: "The country in which the respondent's biological father was born." [] is_a: SCDO:0000129 ! Birthplace of Parents property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000125 name: Birthplace of Biological Mother def: "The country in which the respondent's biological mother was born." [] is_a: SCDO:0000129 ! Birthplace of Parents property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000126 name: Birthplace of Grandparents def: "The country or countires in which the respondent's biological grandparents were born." [] is_a: NCIT:C16495 ! Demographic Factor property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.phenxtoolkit.org/protocols/view/10401 property_value: SCDO:0000303 "Request inclusion into relevant ontology\n\nThere is a protocol in PhenX but it is US specific." xsd:string property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:0000127 name: Birthplace of Maternal Grandfather def: "The country in which the respondent's biological maternal (on the mother's side of the family) grandfather was born." [] is_a: SCDO:0000126 ! Birthplace of Grandparents property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000128 name: Birthplace of Maternal Grandmother def: "The country in which the respondent's biological maternal (on the mother's side of the family) grandmother was born." [] is_a: SCDO:0000126 ! Birthplace of Grandparents property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000129 name: Birthplace of Parents def: "The country or countires in which the respondent's biological parents were born." [] is_a: NCIT:C16495 ! Demographic Factor property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.phenxtoolkit.org/protocols/view/10301 property_value: SCDO:0000303 "Request inclusion into relevant ontology\n\nThere is a protocol in PhenX but it is US specific." xsd:string property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:0000130 name: Birthplace of Paternal Grandfather def: "The country in which the respondent's biological paternal (on the father's side of the family) grandfather was born." [] is_a: SCDO:0000126 ! Birthplace of Grandparents property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000131 name: Birthplace of Paternal Grandmother def: "The country in which the respondent's biological paternal (on the father's side of the family) grandmother was born." [] is_a: SCDO:0000126 ! Birthplace of Grandparents property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000132 name: Black Sunburst Lesion def: "Black lesions in the retina that form at the border of perfused and nonperfused retina that are caused by the migration of hyperplastic retinal pigment epithelial cells into sensory retina. The sensory retina surrounding the lesion is atrophic." [] is_a: HP:0000478 ! Abnormality of the Eye is_a: NCIT:C115319 ! Ophthalmologic Complication relationship: SCDO:0000663 NCIT:C75583 ! diagnosed using tool Slit-Lamp Examination relationship: SCDO:0000663 SCDO:0000835 ! diagnosed using tool Ophthalmoscopy property_value: SCDO:0000303 "Request inclusion into relevant ontology." xsd:string property_value: SCDO:0000340 "Ballas et al 2010 Am J Hematol" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000133 name: Blood Test def: "Test used in the analysis of the hemic system." [] synonym: "Blood Assay" EXACT [] synonym: "Blood Tests" EXACT [] synonym: "Hematologic Test" EXACT [] synonym: "Hematologic Tests" EXACT [] synonym: "Hematological Test" EXACT [] synonym: "HematologyTest" EXACT [] xref: MESH:D006403 is_a: SCDO:0000902 ! Physiological Assay relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D006403 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000133 xsd:string [Term] id: SCDO:0000138 name: Blood Component Transfusion def: "The transfer of blood components such as erythrocytes, leukocytes, platelets, and plasma from a donor to a recipient or back to the donor. This process differs from the procedures undertaken in plasmapheresis and types of cytapheresis; (plateletpheresis and leukapheresis) where, following the removal of plasma or the specific cell components, the remainder is transfused back to the donor." [] xref: MESH:D016913 is_a: SCDO:0000147 ! Blood Transfusion property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D016913 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000138 xsd:string [Term] id: SCDO:0000139 name: Blood Culture def: "Test to determine the presence of blood infection (e.g. sepsis; bacteremia)." [] synonym: "BC" EXACT [] synonym: "Culture Blood" EXACT [] synonym: "Haemoculture" EXACT [] synonym: "Hemoculture" EXACT [] xref: MESH:D000071997 is_a: SCDO:0000133 ! Blood Test property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D000071997 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000139 xsd:string [Term] id: SCDO:0000147 name: Blood Transfusion def: "The introduction of whole blood or blood component directly into the blood stream. (Dorland, 27th ed)" [] comment: The major and unavoidable complication of transfusions in sickle cell disease is iron overload.\n\nTransfusion is well-defined as prophylaxis (stroke) and as therapy (acute chest syndrome and stroke) for major complications of sickle cell disease and has been instituted, based on less conclusive data, for a range of additional complications, such as priapism, vaso-occlusive crises, leg ulcers, pulmonary hypertension, and during complicated pregnancies. synonym: "Blood Transfusions" EXACT [] xref: MESH:D001803 is_a: SCDO:0000922 ! Preventative Therapeutics is_a: SCDO:0001133 ! Symptomatic Therapeutics relationship: SCDO:1000018 DOID:1584 ! treats Acute Chest Syndrome relationship: SCDO:1000018 EUPATH:0000215 ! treats Severe Anemia relationship: SCDO:1000018 HP:0000112 ! treats Nephropathy relationship: SCDO:1000018 HP:0001789 ! treats Hydrops Fetalis relationship: SCDO:1000018 HP:0004727 ! treats Impaired Renal Concentrating Ability relationship: SCDO:1000018 NCIT:C155310 ! treats Sickle Cell Disease-SD relationship: SCDO:1000018 NCIT:C155312 ! treats Sickle Cell Chronic Lung Disease relationship: SCDO:1000018 NCIT:C92853 ! treats Postpartum Hemorrhage relationship: SCDO:1000018 NCIT:C95504 ! treats Hemoglobin H Disease relationship: SCDO:1000018 NCIT:C98835 ! treats Sickle Cell Disease-S Beta Zero Thalassemia relationship: SCDO:1000018 SCDO:0000519 ! treats Hemoglobin C Disease relationship: SCDO:1000018 SCDO:0000530 ! treats Hemoglobin E Disease relationship: SCDO:1000018 SCDO:0000812 ! treats Non-specific Acute Lower Respiratory Tract Episode relationship: SCDO:1000018 SCDO:0000972 ! treats Recurrent Wheeze in Sickle Cell Disease relationship: SCDO:1000018 SCDO:0001064 ! treats Sickle Cell Disease-S/O-Arab relationship: SCDO:1000018 SCDO:1000077 ! treats Moderate Sickle Cell Disease-S Beta Minus Thalassemia relationship: SCDO:1000018 SCDO:1000078 ! treats Severe Sickle Cell Disease-S Beta Minus Thalassemia relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: http://purl.org/dc/elements/1.1/source http://www.hindawi.com/journals/ah/2010/272940/ property_value: http://purl.org/dc/elements/1.1/source "Radha Raghupathy, Deepa Manwani, and Jane A. Little, “Iron Overload in Sickle Cell Disease,” Advances in Hematology, vol. 2010, Article ID 272940, 9 pages, 2010. doi:10.1155/2010/272940" xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D001803 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000147 xsd:string [Term] id: SCDO:0000149 name: Body Height def: "The distance from the sole to the crown of the head with body standing on a flat surface and fully extended." [] synonym: "Height" EXACT [] synonym: "Height/Length" EXACT [] synonym: "Length/Height" EXACT [] xref: EFO:0004339 is_a: CMO:0000011 ! Whole Body Morphological Measurement property_value: SCDO:0000340 http://www.ebi.ac.uk/efo/EFO_0004339 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000149 xsd:string [Term] id: SCDO:0000152 name: Body Weight def: "The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms." [] synonym: "Weight" EXACT [] xref: MESH:D001835 is_a: CMO:0000011 ! Whole Body Morphological Measurement property_value: SCDO:0000303 "Add these terms from PhenX?: -- - Weight Loss/Gain" xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D001835 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000152 xsd:string [Term] id: SCDO:0000155 name: deprecated-Bone Sclerosis def: "An abnormal hardening or increased density of bone tissue." [] comment: The bone is more radiopaque than normal on a plain film. synonym: "Bone Scleroses" EXACT [] synonym: "Osteoscleroses" EXACT [] synonym: "Osteosclerosis" EXACT [] xref: MESH:D010026 is_a: SCDO:0001336 ! from phenotype property_value: http://purl.org/dc/elements/1.1/source "Segen's Medical Dictionary. S.v. \"bone sclerosis.\" Retrieved April 30 2019 from https://medical-dictionary.thefreedictionary.com/bone+sclerosis" xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D010026 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000155 xsd:string is_obsolete: true replaced_by: SCDO:0000629 [Term] id: SCDO:0000156 name: Brachial Artery Ultrasound Imaging def: "A noninvasive method to assess the endothelial dysfunction in the brachial artery." [] synonym: "BAUI" EXACT [] is_a: NCIT:C17230 ! Ultrasound Test is_a: SCDO:0001228 ! Endothelial Function Test property_value: SCDO:0000303 "Request inclusion into relevant ontology." xsd:string property_value: SCDO:0000340 http://en.wikipedia.org/wiki/Endothelial_dysfunction xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000161 name: Brain Electrical Activity def: "Voltages between parts of the brain that are detectable with an electroencephalograph." [] synonym: "Brain Electrophysiological Activity" EXACT [] synonym: "Brain Oscillography" EXACT [] synonym: "EEG activity" EXACT [] xref: CRISP:0487-1238 is_a: SCDO:0000728 ! Diagnostic Measurement relationship: SCDO:1000190 SCDO:0000420 ! obtained via diagnostic tool Electroencephalography relationship: SCDO:1000193 SCDO:0000419 ! output of diagnostic device Electroencephalograph property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/CRISP?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0487-1238 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000161 xsd:string [Term] id: SCDO:0000162 name: Breakthrough Pain def: "An episode of severe pain that occurs with rapid onset even when pain-control medication is being used. Breakthrough pain can occur spontaneously or in relation to a specific activity, and can last from a few seconds to a few hours." [] comment: There are currently no data that clearly describe or can be used to define breakthrough pain in SCD. xref: NCIT:C9203 is_a: SCDO:0000233 ! Chronic Sickle Cell Pain relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: http://purl.org/dc/elements/1.1/source "Evidence-Based Management of Sickle Cell Disease: Expert Panel Report (EPR), 2014" xsd:string property_value: SCDO:0000340 "Evidence-Based Management of Sickle Cell Disease: Expert Panel Report (EPR), 2014" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C9203 property_value: SCDO:1000288 "Few but definitions not specific enough" xsd:string [Term] id: SCDO:0000163 name: Brief Illness Perception Questionnaire (B-IPQ) def: "The Brief IPQ has 9 items, 8 new items from the IPQ plus a causal question. All of the items except the causal question are rated using a 0-to-10-response scale. Five of the items assess Cognitive Illness Representations: Consequences (Item 1), Timeline (Item 2), Personal Control (Item 3), Treatment Control (Item 4), and Identity (Item 5). Two of the items assess Emotional Representations: Concern (Item 6) and Emotions (Item 8). One item assesses Illness Comprehensibility (Item 7). Assessment of the Causal Representation is by an open-ended response item adapted, which asks patients to list the three most important causal factors in their illness (Item 9). Responses to the causal item can be grouped into categories such as stress, lifestyle, hereditary, etc, determined by the particular illness studied, and categorical analysis can then be performed." [] synonym: "B-IPQ" EXACT [] synonym: "Brief Illness Perception Questionnaire" EXACT [] is_a: SCDO:0000951 ! Quality of Life and Care Measure property_value: http://purl.org/dc/elements/1.1/source "Broadbent E, Petrie KJ, Main J, Weinman, J. (2006). The brief illness perception questionnaire. Journal of Psychosomatic Research, 60, 631-637." xsd:string property_value: SCDO:0000303 "Request inclusion into NCIT below \"Research or Clinical Assessment Tool\"." xsd:string property_value: SCDO:0000340 "Broadbent E, Petrie KJ, Main J, Weinman, J. (2006). The brief illness perception questionnaire. Journal of Psychosomatic Research, 60, 631-637." xsd:string property_value: SCDO:0000470 "Multiple countries and cultural groups" xsd:string property_value: SCDO:0000481 "Self" xsd:string property_value: SCDO:0000482 "Clinic Patients" xsd:string property_value: SCDO:0000484 "Many" xsd:string property_value: SCDO:0001033 "Good psychometric properties, widely used, has been translated into several languages." xsd:string property_value: SCDO:0001222 "Adults" xsd:string property_value: SCDO:0001335 "yes" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000164 name: Brief RCOPE def: "Brief RCOPE is a 14-item instrument that measures religious coping with major life stressors. Responses on the Brief RCOPE indicate the frequency with which participants have used R/S coping behaviors on a Likert scale of 1 (not at all) to 4 (a great deal.) The scale has been used to examine positive and negative religious coping, including in teens with SCD." [] is_a: SCDO:0000953 ! Quality of Life Measure property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: http://purl.org/dc/elements/1.1/source "Pargament K, Koenig H, Perez L. The many methods of religious coping: development and initial validation of the RCOPE. J Clin Psychol. 2000;56:519-543." xsd:string property_value: SCDO:0000303 "Request inclusion into NCIT below \"Research or Clinical Assessment Tool\"." xsd:string property_value: SCDO:0000340 "Pargament K, Koenig H, Perez L. The many methods of religious coping: development and initial validation of the RCOPE. J Clin Psychol. 2000;56:519-543." xsd:string property_value: SCDO:0000481 "Self; Proxy (Parent report)" xsd:string property_value: SCDO:0000482 "Children with SCD and their parents." xsd:string property_value: SCDO:0001033 "Demonstrated validity in SCD studies." xsd:string property_value: SCDO:0001222 "Children and adults" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000165 name: Bronchodilator Responsiveness def: "The improvement of forced expiratory volume in 1 second (FEV1) after inhalation of beta2-agonists and is typically measured as the change in airflow after the administration of short-acting beta2-adrenergic agonists (SABAs)." [] synonym: "BDR" EXACT [] {synonymtypedef="abbreviation"} is_a: CMO:0000094 ! Respiratory System Measurement relationship: SCDO:1000190 SCDO:0000166 ! obtained via diagnostic tool Bronchodilator Responsiveness Test property_value: SCDO:0000303 "Suggest that the description be updated in PhenX (https://www.phenxtoolkit.org/protocols/view/90301)" xsd:string property_value: SCDO:0000340 "Bauer S, Park HN, Seo HS, et al. Assessment of bronchodilator responsiveness following methacholine-induced bronchoconstriction in children with asthma. Allergy Asthma Immunol Res. 2011;3(4):245-50." xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000166 name: Bronchodilator Responsiveness Test def: "A test to assess an individual's change in pulmonary function in response to inhaled bronchodilator medications." [] synonym: "BDR Test" EXACT [] synonym: "Bronchodilator Responsiveness Testing" EXACT [] xref: phenX:90301 is_a: SCDO:0000942 ! Pulmonary Function Test relationship: SCDO:0001297 NCIT:C85397 ! has essential measure Spirometry relationship: SCDO:1000194 SCDO:0000165 ! measures Bronchodilator Responsiveness property_value: SCDO:0000303 "Suggest update to label in PhenX (from \"Bronchodilator Responsiveness (BDR)\")\n\nCan also suggest inclusion in MESH below \"Respiratory Function Tests\"" xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/90301 property_value: SCDO:0000479 "PhenX protocol: Bronchodilator Responsiveness (BDR) #90301" xsd:string property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0000182 name: Capillary Electrophoresis def: "A highly-sensitive (in the picomolar range, which is 10,000-fold more sensitive than conventional electrophoresis) and efficient technique that allows separation of proteins; nucleic acids; and carbohydrates. (Segen, Dictionary of Modern Medicine, 1992)" [] synonym: "Capillary Electrophoreses" EXACT [] synonym: "Capillary Zone Electrophoreses" EXACT [] synonym: "Capillary Zone Electrophoresis" EXACT [] xref: MESH:D019075 is_a: SCDO:0000424 ! Electrophoresis property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D019075 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000182 xsd:string [Term] id: SCDO:0000183 name: Cardioscope def: "An instrument which, by means of a cathode-ray oscillograph, projects an electrocardiographic record on a luminous screen." [] is_a: SCDO:0000376 ! Diagnostic Device relationship: SCDO:1000191 SCDO:0000417 ! used by diagnostic tool Electrocardiography property_value: SCDO:0000303 "Request inclusion into relevant ontology." xsd:string property_value: SCDO:0000340 http://encyclopedia2.thefreedictionary.com/cardioscope xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000187 name: deprecated Cardiovascular System def: "'Anatomical system that has as its parts the heart and blood vessels. [Curator team: []]'" [] synonym: "CV system" EXACT [] xref: UBERON:0004535 is_a: SCDO:0001336 ! from phenotype property_value: SCDO:0000340 http://purl.obolibrary.org/obo/UBERON_0004535 xsd:string is_obsolete: true replaced_by: SCDO:0002245 [Term] id: SCDO:0000188 name: obsolete Case Reports def: "'Clinical presentations that may be followed by evaluative studies that eventually lead to a diagnosis. [Curator team: []]'" [] synonym: "Case Histories" EXACT [] synonym: "Case Studies" EXACT [] synonym: "Case Study" EXACT [] xref: MESH:D002363 is_a: SCDO:0000941 ! obsolete Publication Type property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D002363 xsd:string is_obsolete: true [Term] id: SCDO:0000189 name: Case-Control Studies def: "Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group." [] synonym: "Case-Referrent Studies" EXACT [] xref: MESH:D016022 is_a: SCDO:0000437 ! Epidemiologic Studies property_value: SCDO:0000303 "Suggest update to description in MESH" xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D016022 xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000190 name: Catheter def: "A flexible, tubular device that is used to carry fluids into or from a blood vessel, hollow organ, or body cavity." [] synonym: "Cannula" EXACT [] synonym: "Cannulas" EXACT [] synonym: "Catheters" EXACT [] xref: MESH:D057785 is_a: SCDO:0000376 ! Diagnostic Device is_a: SCDO:0001150 ! Therapeutic Device relationship: SCDO:1000191 NCIT:C80411 ! used by diagnostic tool Right Heart Catheterization property_value: SCDO:0000303 "Add info (rdfs:comment) about how catheters are used in different therapeutics. -- -- Link relevant Therapeutics term(s) to this term via \"has medical device\"." xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D057785 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000190 xsd:string [Term] id: SCDO:0000191 name: Causal Adverse Drug Event def: "A drug adverse event that is caused by a drug administration. Here a causal effect is established between the drug administration and the adverse event." [] xref: OAE:0000095 is_a: SCDO:0000028 ! Adverse Drug Event property_value: SCDO:0000303 "Suggest definition replaced in OAE. Currenlty it's shown as the definition editor." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/OAE_0000095 xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000192 name: Causal Adverse Drug Event Due to Drug-Drug Interaction def: "A causal adverse drug event that is induced by a drug-drug interaction." [] xref: OAE:0000179 is_a: SCDO:0000191 ! Causal Adverse Drug Event property_value: SCDO:0000340 http://purl.obolibrary.org/obo/OAE_0000179 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000192 xsd:string [Term] id: SCDO:0000193 name: Causal Adverse Drug Event Due to Food-Drug Interaction def: "A causal adverse drug event that is induced by a food-drug interaction." [] xref: OAE:0000180 is_a: SCDO:0000191 ! Causal Adverse Drug Event property_value: SCDO:0000340 http://purl.obolibrary.org/obo/OAE_0000180 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000193 xsd:string [Term] id: SCDO:0000194 name: Causal Adverse Drug Event Due to Genetic Predisposition def: "A causal adverse drug event that is induced by genetic predisposition." [] xref: OAE:0000181 is_a: SCDO:0000191 ! Causal Adverse Drug Event property_value: SCDO:0000303 "Suggest small typo to be fixed in OAE." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/OAE_0000181 xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000195 name: Causal Adverse Drug Event Due to SNP def: "A causal adverse drug event due to genetic predisposition that is specifically induced by SNP." [] xref: OAE:0000182 is_a: SCDO:0000194 ! Causal Adverse Drug Event Due to Genetic Predisposition property_value: SCDO:0000340 http://purl.obolibrary.org/obo/OAE_0000182 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000195 xsd:string [Term] id: SCDO:0000198 name: Cell Free Hemoglobin Blood Test def: "The determination of the amount of free hemoglobin present in a sample." [] synonym: "Cell Free Hemoglobin Assay" EXACT [] synonym: "Cell Free Hemoglobin Blood Assay" EXACT [] synonym: "Cell Free Hemoglobin Test" EXACT [] synonym: "Free Hemoglobin Blood Test" EXACT [] synonym: "HGBFR Test" EXACT [] xref: NCIT:C127617 is_a: SCDO:0000133 ! Blood Test relationship: SCDO:1000194 SCDO:0000199 ! measures Cell Free Hemoglobin Level property_value: SCDO:0000303 "Suggest update to label in NCIT (from \"Free Hemoglobin Measurement\")" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C127617 property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0000199 name: Cell Free Hemoglobin Level def: "The level of hemoglobin external to erythrocytes in a biological specimen." [] synonym: "Cell Free Haemoglobin Level" EXACT [] synonym: "Cell Free Hemoglobin Concentration" EXACT [] synonym: "Extracellular Hb Level" EXACT [] synonym: "Extracellular Hemoglobin Level" EXACT [] synonym: "HGBFR Level" EXACT [] is_a: CMO:0000023 ! Blood Chemistry Measurement relationship: SCDO:1000190 SCDO:0000198 ! obtained via diagnostic tool Cell Free Hemoglobin Blood Test property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology\n\nIf wanting to include \"Plasma Hemoglobin Level\" in the future, see CMO:0000588 for a description. synonyms: Plasma Free Hemoglobin (PFHb) Level, Plasma Hemoglobin Level." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000206 name: Cerebral Collateral Flow def: "Cerebral collateral circulation is a subsidiary vascular network which is dynamically recruited after arterial occlusion and may provide residual blood flow to ischemic areas." [] synonym: "Cerebral Collateral Circulation" EXACT [] is_a: SCDO:0000213 ! Cerebrovascular Hemodynamics relationship: SCDO:1000190 SCDO:0001166 ! obtained via diagnostic tool Transcranial Doppler Ultrasonography property_value: SCDO:0000303 "The description doesn't actually describe the term. Needs revision.\n\nPerhaps: Blood flow through cerebral collateral circulation, a subsidiary vascular network which is dynamically recruited after arterial occlusion and which may provide residual blood flow to ischemic areas.\n\nSuggest inclusion into CMO, below \"circulation measurement\"." xsd:string property_value: SCDO:0000340 "Cerebral collateral circulation in experimental ischemic stroke. Elisa Cuccione, Giada Padovano, Alessandro Versace, Carlo Ferrarese, Simone Beretta. Exp Transl Stroke Med. 2016; 8: 2. Published online 2016 Mar 1. doi: 10.1186/s13231-016-0015-0\nPMCID: PMC4772465" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000208 name: Cerebral Function Assay def: "A test of how well the cerebrum is functioning." [] synonym: "Cerebral Function Test" EXACT [] is_a: SCDO:0000902 ! Physiological Assay property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000213 name: Cerebrovascular Hemodynamics def: "The movement and the forces involved in the movement of the blood through the blood vessels in the brain." [] is_a: CMO:0000195 ! Blood Flow Measurement property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C62581 property_value: http://purl.org/dc/elements/1.1/source http://purl.bioontology.org/ontology/MESH/D006439 property_value: SCDO:0000303 "Request inclusion into relevant ontology.\nPerhaps replace with \"cerebral blood flow measurement\" from the EFO?" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000216 name: Chemical Assay def: "The analysis of a sample material, called an analyte, using a set of chemical procedures." [] is_a: SCDO:0000082 ! Diagnostic Technique, Method, Test or Assay property_value: SCDO:0000303 "Request inclusion into relevant ontology." xsd:string property_value: SCDO:0000340 http://www.reference.com/science/chemical-assay-80cfe6f498d34be5 xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000217 name: Chest X-Ray def: "A medical imaging assessment of the chest wall, airways, lungs, pulmonary vessels, heart, mediastinum, and pleura." [] synonym: "Chest Radiograph" EXACT [] xref: phenX:810201 is_a: SCDO:0000963 ! Radiography relationship: SCDO:1000192 OBI:0001138 ! uses diagnostic device X-Ray Machine relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/810201 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000217 xsd:string [Term] id: SCDO:0000218 name: Child Health Questionnaire (CHQ) def: "The Child Health Questionnaire (CHQ) is a family of general quality of life surveys that measures 14 unique physical and psychosocial concepts. The parent form is available in 2 lengths - the CHQ-PF50 and the CHQ-PF28. The child self-reported version of the CHQ consists of 87 items (CHQ-CF87)." [] synonym: "Child Health Questionnaire" EXACT [] synonym: "CHQ" EXACT [] is_a: SCDO:0000953 ! Quality of Life Measure property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: http://purl.org/dc/elements/1.1/source "Landgraf, J. M., Abetz, L., and Ware, J. E. (1996). Child health questionnaire (CHQ): A user's manual (1st Ed.). Boston, M.A.: The Health Institute, New England Medical Center." xsd:string property_value: http://purl.org/dc/elements/1.1/source "Panepinto JA, O'Mahar KM, DeBaun MR, Rennie KM, Scott JP. Validity of the child health questionnaire for use in children with sickle cell disease. J Pediatr Hematol Oncol. 2004 Sep;26(9):574-8." xsd:string property_value: http://purl.org/dc/elements/1.1/source "Wrotniak BH, Schall JI, Brault ME, Balmer DF, Stallings VA. Health-related quality of life in children with sickle cell disease using the child health questionnaire. J Pediatr Health Care. 2014 Jan-Feb;28(1):14-22. doi: 10.1016/j.pedhc.2012.09.004. Epub 2012 Nov 8." xsd:string property_value: SCDO:0000470 "Multiple countries and cultural groups" xsd:string property_value: SCDO:0000481 "Self, Proxy" xsd:string property_value: SCDO:0000482 "Healthy Children; Children with Medical Conditions" xsd:string property_value: SCDO:0000484 "French, isiXhosa, isiZulu, Portuguese, Punjabi, Sesotho, Temil, Telugu, Gujarati" xsd:string property_value: SCDO:0001033 "Demonstrated validity with SCD populations; at least two publications using the measure in SCD." xsd:string property_value: SCDO:0001222 "5 to 18 years (child report 10 - 18 years; parent report 5 - 18 years)" xsd:string property_value: SCDO:0001335 "yes" xsd:string property_value: SCDO:1000288 "Few but definitions not specific enough" xsd:string [Term] id: SCDO:0000219 name: Child-Reported Parental Education Attainment def: "A parent's highest level of education obtained, as reported by the child." [] xref: phenX:210201 is_a: SCDO:0000305 ! Current Educational Attainment relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age property_value: SCDO:0000303 "Request inclusion into MESH below \"Current Educational Attainment\" (also to be suggested), below \"Socioeconomic Factors\".\nAlso suggest inclusion in the EFO, below measurement." xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/210201 property_value: SCDO:0000479 "PhenX protocol: Child-Reported Parental Education Attainment #210201" xsd:string property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:0000220 name: Children's Depression Inventory 2 (CDI 2) def: "The CDI-2 is a 27-item self-report scale that helps to assess cognitive, affective and behavioral signs of depression in children and adolescents. Each item is scored on a scale from 0 to 2." [] synonym: "CDI 2" EXACT [] synonym: "CDI-2" EXACT [] synonym: "Children's Depression Inventory 2" EXACT [] synonym: "Children's Depression Inventory-2" EXACT [] is_a: SCDO:0000953 ! Quality of Life Measure property_value: http://purl.org/dc/elements/1.1/source "Kovacs, M. (1985). The Children's Depression, Inventory (CDI). Psychopharmacology Bulletin, 21, 995-998." xsd:string property_value: SCDO:0000303 "Check and show which source was used for the description and whether the description was adapted from the source." xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology. Could be as a child of \"Symptom Specific Assessment Tool\" in the NCIT." xsd:string property_value: SCDO:0000470 "Multiple countries and cultural groups" xsd:string property_value: SCDO:0000481 "Self" xsd:string property_value: SCDO:0000482 "Clinic Patients" xsd:string property_value: SCDO:0001222 "7 to 17 years" xsd:string property_value: SCDO:0001335 "yes" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000221 name: Children's Health Locus of Control Scale (CHLC) def: "A measure that seeks to determine the extent to which children and adolescents believe their own health-related behaviors will influence their health. It is a 20 item scale that contains 3 additional practice items and is a yes or no format. It contains 3 factors: belief in internality, belief in powerful others and belief in chance. There is a shorter 9-item version of the scale which is comparable to the full version and adapted for use in Egyptian children." [] synonym: "Children's Health Locus of Control Scale" EXACT [] synonym: "CHLC" EXACT [] is_a: SCDO:0000951 ! Quality of Life and Care Measure property_value: SCDO:0000340 "Abdel Gawwad E, Ahmed MH, Kamal MM. Developing and testing of an Egyptian version of Children's Health Locus of Control scale. J Egypt Public Health Assoc. 1999; 74(1-2):139-73." xsd:string property_value: SCDO:0000340 "Deaux EB. Health Locus of Control in Chukotka children. Alaska Med. 1992 Jul-Sep; 34(3):135-9." xsd:string property_value: SCDO:0000340 "Parcel G.S. and Meyer M.P. (1978) Development of an instrument to measure children's health locus of control. Health Education Monographs, 6, 149-159." xsd:string property_value: SCDO:0000470 "Multiple countries and cultural groups" xsd:string property_value: SCDO:0000481 "Self" xsd:string property_value: SCDO:0000482 "Healthy Children; Children with Medical Conditions" xsd:string property_value: SCDO:0000484 "English, Russian, a 9- item shorter Egyptian version" xsd:string property_value: SCDO:0001033 "Has adequate reliability, construct validity and internal consistency." xsd:string property_value: SCDO:0001222 "Children and Adolescents" xsd:string property_value: SCDO:0001335 "no" xsd:string property_value: SCDO:1000288 "Few but definitions not specific enough" xsd:string [Term] id: SCDO:0000222 name: Cholecystectomy def: "Surgical removal of the gallbladder." [] synonym: "Cholecystectomies" EXACT [] xref: MESH:D002763 is_a: SCDO:0001129 ! Supportive Therapeutics relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D002763 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000222 xsd:string [Term] id: SCDO:0000225 name: Chronic Complications of Sickle Cell Disease def: "A condition that co-exists or follows from sickle cell disease and that has a slow, creeping onset, slow progress and long continuance of disease manifestations." [] is_a: NCIT:C2959 ! Complication is_a: SCDO:0000895 ! Phenotype of Sickle Cell Disease property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: http://purl.org/dc/elements/1.1/source http://purl.bioontology.org/ontology/MESH/Q000150 xsd:string property_value: http://purl.org/dc/elements/1.1/source http://purl.obolibrary.org/obo/HP_0011010 xsd:string property_value: SCDO:0000303 "Probably too specific to warrant inclusion into anther ontology." xsd:string property_value: SCDO:0000303 "Used info in \"Evidence-Based Management of Sickle Cell Disease, Expert Panel Report, 2014\" to link to relevant phenotypes." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000226 name: Chronic Kidney Disease def: "Chronic kidney disease (CKD) is defined as either having a glomerular filtration rate (GFR) of <60 mL/min/1.73 mL for >3 months with or without kidney damage or having evidence of kidney damage for 3 months, with or without decreased GFR." [] comment: Evidence of kidney damage includes pathologic abnormalities or markers of kidney damage (i.e., proteinuria) independent of cause. Kidney disease severity is classified into five stages according to the level of GFR and presence of albuminuria. synonym: "Chronic Kidney Injury" EXACT [] synonym: "Chronic Renal Failure" EXACT [] synonym: "CKD" EXACT [] xref: DOID:784 is_a: HP:0000084 ! Kidney Failure is_a: SCDO:0001334 ! Chronic Phenotype relationship: SCDO:0000663 SCDO:0000133 ! diagnosed using tool Blood Test relationship: SCDO:0000663 SCDO:0001205 ! diagnosed using tool Urinary Albumin Test relationship: SCDO:0000663 SCDO:0001206 ! diagnosed using tool Urinary Creatinine Test relationship: SCDO:0000664 SCDO:0000067 ! treated with Antihypertensive Agents relationship: SCDO:0000664 SCDO:0000983 ! treated with Renal Dialysis relationship: SCDO:0000664 SCDO:0000985 ! treated with Renal Transplant relationship: SCDO:1000220 CMO:0000057 ! diagnosed using measurement Serum Creatinine Level relationship: SCDO:1000220 SCDO:0000310 ! diagnosed using measurement Blood Cystatin C Level relationship: SCDO:1000220 SCDO:0000457 ! diagnosed using measurement Glomerular Filtration Rate relationship: SCDO:1000220 SCDO:0001209 ! diagnosed using measurement Urine Albumin Concentration relationship: SCDO:1000220 SCDO:0001210 ! diagnosed using measurement Urine Albumin Excretion Rate relationship: SCDO:1000220 SCDO:0001212 ! diagnosed using measurement Urine Albumin-Creatinine Ratio relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: http://purl.org/dc/elements/1.1/source "classification-of-chronic-kidney-disease-2" property_value: http://purl.org/dc/elements/1.1/source "NHLBI SCD New guidelines 2014." xsd:string property_value: SCDO:0000303 "Suggest update to description in DO (currently no definition)." xsd:string property_value: SCDO:0000340 "NHLBI SCD New guidelines 2014." xsd:string property_value: SCDO:0000468 "When assessed by albuminuria, often presents in second decade of life in sickle cell disease and prevalence increases with age." xsd:string property_value: SCDO:0000472 "CKD is classified using a combination of GFR and ACR categories" xsd:string property_value: SCDO:0000661 "Sickle cell disease, hypertension, diabetes, polycystic kidney disease, glomerulonephritis, various other causes." xsd:string property_value: SCDO:0000662 "Reduced glomerular filtration, elevated creatinine, anemia, bone disease, uremia." xsd:string property_value: SCDO:1000288 "Few but definitions not specific enough" xsd:string [Term] id: SCDO:0000227 name: deprecated-Chronic Kidney Injury def: "Is a long-term condition where the kidneys don't work as well as they should." [] synonym: "CKD" EXACT [] is_a: SCDO:0001336 ! from phenotype property_value: SCDO:0000303 "There is conflicting positioning of this term in different ontologies. Need an expert to decide descriptions and positioning of this and related terms." xsd:string is_obsolete: true replaced_by: SCDO:0000226 [Term] id: SCDO:0000228 name: Chronic Neuropathic Pain def: "Chronic pain caused by damage to nerve fibers. It is usually associated with tissue injury. This pain is usually described as burning, numb, tingling, lancinating, shooting, or paroxysmal in nature and is associated with a sensation of pins and needles. Its severity is also enhanced by exposure to either cold or heat." [] is_a: SCDO:0000233 ! Chronic Sickle Cell Pain relationship: SCDO:0000664 NCIT:C62005 ! treated with Amitriptyline relationship: SCDO:0000664 NCIT:C64625 ! treated with Pregabalin relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 EFO:0005762 property_value: SCDO:0000340 "Evidence-Based Management of Sickle Cell Disease: Expert Panel Report (EPR), 2014" xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000229 name: Chronic Pain in a Specific Tissue or Organ def: "This pain occurs in a specific tissue or organ and is usually described as constant and deep, nagging, and achy in nature." [] is_a: SCDO:0000233 ! Chronic Sickle Cell Pain property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "Evidence-Based Management of Sickle Cell Disease: Expert Panel Report (EPR), 2014" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000230 name: Chronic Pain often Unclear Etiology def: "The only complaint is the patient's self-report of pain that does not go away." [] comment: This type of chronic sickle cell pain may be an extension of\nrecurrent acute painful episodes. Therefore, early and aggressive intervention in treating acute sickle cell\npain may reduce the development of chronic pain. synonym: "Intractable Chronic Pain Without Obvious Pathology" EXACT [] is_a: SCDO:0000233 ! Chronic Sickle Cell Pain property_value: http://purl.org/dc/elements/1.1/source "Evidence-Based Management of Sickle Cell Disease: Expert Panel Report (EPR), 2014" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "Evidence-Based Management of Sickle Cell Disease: Expert Panel Report (EPR), 2014" xsd:string property_value: SCDO:0000340 http://doi.org/10.1182/blood-2012-04-383430 xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000232 name: Chronic Restrictive Lung Disease def: "Restrictive lung disease is a category of extrapulmonary, pleural, or parenchymal respiratory diseases that restrict lung expansion, resulting in a decreased lung volume, an increased work of breathing, and inadequate ventilation and/or oxygenation. Pulmonary function test demonstrates a decrease in the forced vital capacity." [] synonym: "Chronic Restrictive Ventilatory Defect" EXACT [] synonym: "Restrictive Lung Disease" EXACT [] is_a: HP:0002086 ! Abnormality of the Respiratory System is_a: SCDO:0000954 ! Quality of Life Related SCD Symptoms and Complications is_a: SCDO:0001334 ! Chronic Phenotype relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives property_value: SCDO:0000303 "The description does not seem complete as it does not address the \"chronic\" aspect.\n\nRequest inclusion into relevant ontology\n\nWikipedia was used as the description source. Perhaps rather use NCIT's \"Restrictive Lung Disease\", and then use wikipedia as source for additional info. Did not find \"Chronic Restrictive Lung Disease\" in ontologies, but did find \"Chronic Obstructive Lung Disease\"...perhaps there was confusion between these terms when giving the name?" xsd:string property_value: SCDO:0000340 HP:0002091 property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000233 name: Chronic Sickle Cell Pain def: "Persistent pain in sickle cell disease. In sickle cell disease, persistent pain (pain that has lasted longer than 3 to 6 months) no longer serves as a warning sign. However, the time distinction is arbitrary and the condition may be difficult to distinguish from frequently recurring acute pain. Chronic pain may occur with objective signs of avascular necrosis, arthropathy, arthritis, leg ulcers or vertebral body collapse, or without objective signs, due to neuroplasticity of the peripheral nervous system." [] synonym: "SCD-Associated Chronic Pain" EXACT [] is_a: HP:0012532 ! Chronic Pain is_a: SCDO:0001023 ! SCD Related Pain relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: http://purl.org/dc/elements/1.1/source "Evidence-Based Management of Sickle Cell Disease: Expert Panel Report (EPR), 2014" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 HP:0012532 property_value: SCDO:0000340 "SCD Management guidelines - Tanzania" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000234 name: Chronic Sickle Cell Pain Management def: "Sickle cell pain management that aims to restore function and improve the quality of life." [] synonym: "Chronic Sickle Cell Pain Treatment" EXACT [] is_a: SCDO:0001052 ! Sickle Cell Pain Management relationship: SCDO:1000015 SCDO:0000952 ! modifies Quality of Life in Sickle Cell Disease Measure property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into MESH below \"Pain Management\" / \"Sickle Cell Pain Management\" (also to be suggested for inclusion)" xsd:string property_value: SCDO:0000340 SCDO:1000152 property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000235 name: Cigarette Smoking Status def: "An indication of a person's current cigarette use as well as some indication of cigarette smoking history." [] synonym: "Cigarette Smoking Status Measurement" EXACT [] is_a: NCIT:C29719 ! Smoking History is_a: SCDO:1000318 ! Diagnostic Instrument Measurement relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:1000190 SCDO:1000320 ! obtained via diagnostic tool Cigarette Smoking Status Diagnostic Instrument - Adult relationship: SCDO:1000190 SCDO:1000321 ! obtained via diagnostic tool Cigarette Smoking Status Diagnostic Instrument - Adolescent property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source http://bioportal.bioontology.org/ontologies/ROO?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C19796 property_value: SCDO:0000303 "Request inclusion below \"smoking status\" in Exposure Ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000236 name: Climate def: "Meteorological conditions, including temperature, precipitation, and wind, that characteristically prevail in a particular region; includes regions of the earth having particular meteorological conditions." [] xref: CRISP:1035-6799 is_a: SCDO:0000897 ! Physical Environment property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/CRISP?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1035-6799 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000236 xsd:string [Term] id: SCDO:0000245 name: Clinical Coding def: "Process of substituting a symbol or code for a term such as a diagnosis or procedure. (from Slee's Health Care Terms, 3d ed.)" [] synonym: "Coding" EXACT [] synonym: "Medical Coding" EXACT [] xref: MESH:D059019 is_a: SCDO:0000738 ! Medical Records property_value: SCDO:0000303 "Add specific Sickle Cell Disease related codes as instances/individuals below *Clinical Coding*? (see ICD-10 codes here: www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-)" xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D059019 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000245 xsd:string [Term] id: SCDO:0000246 name: Clinical Competence def: "The capability to perform acceptably those duties directly related to patient care." [] synonym: "Clinical Competencies" EXACT [] synonym: "Clinical Competency" EXACT [] synonym: "Clinical Skill" EXACT [] synonym: "Competencies, Clinical" EXACT [] synonym: "Competency, Clinical" EXACT [] synonym: "Skill, Clinical" EXACT [] synonym: "Skills, Clinical" EXACT [] xref: MESH:D002983 is_a: SCDO:0000948 ! Quality of Health Care property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D002983 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000246 xsd:string [Term] id: SCDO:0000247 name: obsolete Clinical Conference def: "'Work that consists of a conference of physicians on their observations of a patient at the bedside, regarding the physical state, laboratory and other diagnostic findings, clinical manifestations, results of current therapy, etc. A clinical conference usually ends with a confirmation or correction of clinical findings by a pathological diagnosis performed by a pathologist. Clinical conference is often referred to as a clinico-pathological conference. [Curator team: []]'" [] synonym: "Clinico-Pathologic Conference" EXACT [] synonym: "Clinico-Pathological Conference" EXACT [] xref: MESH:D016429 is_a: SCDO:0000941 ! obsolete Publication Type property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D016429 xsd:string is_obsolete: true [Term] id: SCDO:0000249 name: obsolete Clinical Diagnostic Questionnaire def: "'A quick and accurate way of assessing the patient health states using well defined set of questions and analyzed for an optimal clinical decision for the patient. [Curator team: Gaston K. Mazandu]'" [] is_a: SCDO:0000957 ! obsolete Questionnaire is_obsolete: true [Term] id: SCDO:0000250 name: Clinical Neuropathy Assessment def: "A physician administered examination to assess peripheral neuropathy." [] synonym: "Charcot-Marie-Tooth Neuropathy Score" EXACT [] synonym: "Neuropathy - Clinical Assessment" EXACT [] xref: phenX:130201 is_a: SCDO:0000898 ! Physical Examination property_value: http://purl.org/dc/elements/1.1/source https://www.phenxtoolkit.org/protocols/view/130201 property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/130201 property_value: SCDO:0000479 "PhenX protocol: Neuropathy - Clinical Assessment #130201" xsd:string property_value: SCDO:0000486 "Can be used to assess the severity of symptoms and disability associated with peripheral neuropathy caused by a number of disorders including tumors, infections, autoimmune diseases, and inherited disorders such as Charcot-Marie-Tooth disease." xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000250 xsd:string [Term] id: SCDO:0000251 name: Clinical Phenotype of Beta Thalassemia def: "Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype." [] is_a: SCDO:0000111 ! Beta Thalassemia relationship: SCDO:1000005 HP:0011904 ! modified by Increased Hemoglobin F relationship: SCDO:1000005 SCDO:0000042 ! modified by Alpha Thalassemia relationship: SCDO:1000005 SCDO:0000580 ! modified by Hydroxyurea relationship: SCDO:1000005 SCDO:1000707 ! modified by Hemoglobin F Level relationship: SCDO:1000172 SCDO:0007624 ! has causal genotype Beta Thalassemia Genotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Clair Ingram)" xsd:string property_value: SCDO:0000303 "Could this not rather be \"Clinical Subtype of Beta Thalassemia\"? See \"clinical subtype\" in Orphanet." xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000252 name: obsolete Clinical Study def: "'A work that reports on the results of a research study to evaluate interventions or exposures on biomedical or health-related outcomes. The two main types of clinical studies are interventional studies (clinical trials) and observational studies. While most clinical studies concern humans, this publication type may be used for clinical veterinary articles meeting the requisites for humans. [Curator team: []]'" [] xref: MESH:D000068397 is_a: SCDO:0000941 ! obsolete Publication Type property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D000068397 xsd:string is_obsolete: true [Term] id: SCDO:0000253 name: Clinical Studies as Topic def: "Works about research studies that evaluate interventions or exposures on biomedical or health-related outcomes. The two main types of clinical studies are interventional studies (clinical trials) and observational studies." [] xref: MESH:D000068456 is_a: SCDO:0300004 ! Epidemiologic Study Characteristics property_value: SCDO:0000303 "Term to be adapted as necessary to match EDDA Study Designs Taxonomy" xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D000068456 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000253 xsd:string [Term] id: SCDO:0000254 name: obsolete Clinical Trial def: "'A work that reports on the results of a clinical study in which participants are assigned to receive one or more interventions so that researchers can evaluate the interventions on biomedical or health-related outcomes. The assignments are determined by the study protocol. Participants may receive diagnostic, therapeutic, or other types of interventions. While most clinical trials concern humans, this publication type may be used for clinical veterinary articles meeting the requisites for humans. [Curator team: []]'" [] synonym: "Intervention Study" EXACT [] xref: MESH:D016430 is_a: SCDO:0000252 ! obsolete Clinical Study property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D016430 xsd:string is_obsolete: true [Term] id: SCDO:0000255 name: obsolete Clinical Trial, Phase I def: "'Work that is the report of a pre-planned, usually controlled, clinical study of the safety and efficacy of diagnostic, therapeutic, or prophylactic drugs, devices, or techniques based on a small number of healthy persons and conducted over the period of about a year in either the United States or a foreign country. [Curator team: []]'" [] synonym: "Clinical Trial, Phase 1" EXACT [] xref: MESH:D017426 is_a: SCDO:0000254 ! obsolete Clinical Trial property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D017426 xsd:string is_obsolete: true [Term] id: SCDO:0000256 name: obsolete Clinical Trial, Phase II def: "'Work that is a report of a pre-planned, usually controlled, clinical study of the safety and efficacy of diagnostic, therapeutic, or prophylactic drugs, devices, or techniques based on several hundred volunteers, including a limited number of patients, and conducted over a period of about two years in either the United States or a foreign country. [Curator team: []]'" [] synonym: "Clinical Trial, Phase 2" EXACT [] xref: MESH:D017427 is_a: SCDO:0000254 ! obsolete Clinical Trial property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D017427 xsd:string is_obsolete: true [Term] id: SCDO:0000257 name: obsolete Clinical Trial, Phase IV def: "'Work that is a report of a planned post-marketing study of diagnostic, therapeutic, or prophylactic drugs, devices, or techniques that have been approved for general sale after clinical trials, phases I, II, and III. These studies, conducted in the United States or a foreign country, often garner additional data about the safety and efficacy of a product. [Curator team: []]'" [] synonym: "Clinical Trial, Phase 4" EXACT [] xref: MESH:D017429 is_a: SCDO:0000254 ! obsolete Clinical Trial property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D017429 xsd:string is_obsolete: true [Term] id: SCDO:0000258 name: obsolete Clinical Trial, Phase III def: "'Work that is a report of a pre-planned, usually controlled, clinical study of the safety and efficacy of diagnostic, therapeutic, or prophylactic drugs, devices, or techniques after phase II trials. A large enough group of patients is studied and closely monitored by physicians for adverse response to long-term exposure, over a period of about three years in either the United States or a foreign country. [Curator team: []]'" [] synonym: "Clinical Trial, Phase 3" EXACT [] xref: MESH:D017428 is_a: SCDO:0000254 ! obsolete Clinical Trial property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D017428 xsd:string is_obsolete: true [Term] id: SCDO:0000259 name: Clinical Trials as Topic def: "Works about pre-planned studies of the safety, efficacy, or optimum dosage schedule (if appropriate) of one or more diagnostic, therapeutic, or prophylactic drugs, devices, or techniques selected according to predetermined criteria of eligibility and observed for predefined evidence of favorable and unfavorable effects. This concept includes clinical trials conducted both in the U.S. and in other countries." [] xref: MESH:D002986 is_a: SCDO:0000253 ! Clinical Studies as Topic property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D002986 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000259 xsd:string [Term] id: SCDO:0000262 name: Cognitive Therapy def: "A direct form of psychotherapy based on the interpretation of situations (cognitive structure of experiences) that determine how an individual feels and behaves. It is based on the premise that cognition, the process of acquiring knowledge and forming beliefs, is a primary determinant of mood and behavior. The therapy uses behavioral and verbal techniques to identify and correct negative thinking that is at the root of the aberrant behavior." [] synonym: "CBT" EXACT [] synonym: "Cognition Therapies" EXACT [] synonym: "Cognition Therapy" EXACT [] synonym: "Cognitive Behavioral Therapies" EXACT [] synonym: "Cognitive Behavioral Therapy" EXACT [] synonym: "Cognitive Behaviour Therapy" EXACT [] synonym: "Cognitive Psychotherapies" EXACT [] synonym: "Cognitive Psychotherapy" EXACT [] synonym: "Cognitive Therapies" EXACT [] xref: MESH:D015928 is_a: SCDO:0001284 ! Behaviour Therapy relationship: SCDO:1000018 SCDO:0000465 ! treats Growth Delay relationship: SCDO:1000018 SYMP:0019161 ! treats Muscle Pain relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D015928 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000262 xsd:string [Term] id: SCDO:0000263 name: Cohort Studies def: "Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics." [] synonym: "Cohort Analyses" EXACT [] xref: MESH:D015331 is_a: SCDO:0000437 ! Epidemiologic Studies property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D015331 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000263 xsd:string [Term] id: SCDO:0000265 name: Coma def: "A profound state of unconsciousness associated with depressed cerebral activity from which the individual cannot be aroused. Coma generally occurs when there is dysfunction or injury involving both cerebral hemispheres or the brain stem reticular formation." [] synonym: "Comas" EXACT [] xref: MESH:D003128 is_a: HP:0012638 ! Abnormal Nervous System Physiology relationship: SCDO:0000663 NCIT:C16809 ! diagnosed using tool Magnetic Resonance Imaging relationship: SCDO:0000663 NCIT:C18772 ! diagnosed using tool Personal Medical History relationship: SCDO:0000663 SCDO:0000133 ! diagnosed using tool Blood Test relationship: SCDO:0000663 SCDO:0000139 ! diagnosed using tool Blood Culture relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: SCDO:0000303 "The specific type of Blood Test (s) used to diagnose a coma should be specified. -- -- Named Individual removed (is diagnosed by): -- As in any neurologic condition, history and examination form the cornerstone of diagnosis when the patient is in a coma; however, history must be obtained from family, friends, or EMS. The Glasgow Coma Scale is a system of examining a comatose patient. It is helpful for evaluating the depth of the coma, tracking the patient's progress, and predicting (somewhat) the ultimate outcome of the coma. The Glasgow Coma Scale assigns a different number of points for exam results in three different categories: opening the eyes, verbal response (using words or voice to respond), and motor response (moving a part of the body). Fifteen is the largest possible number of total points, indicating the highest level of functioning. The highest level of functioning would be demonstrated by an individual who spontaneously opens his/her eyes, gives appropriate answers to questions about his/her situation, and can carry out a command (such as \"move your leg\" or \"nod your head\"). Three is the least possible number of total points and would be given to a patient for whom not even a painful stimulus is sufficient to provoke a response. In the middle are those patients who may be able to respond, but who require an intense or painful stimulus, and whose response may demonstrate some degree of brain malfunctioning (such as a person whose only response to pain in a limb is to bend that limb in toward the body). When performed as part of the admission examination, a Glasgow score of three to five points often suggests that the patient has likely suffered fatal brain damage, while eight or more points indicates that the patient's chances for recovery are good. Expansion of the pupils and respiratory pattern are also important. Metabolic causes of coma are diagnosed from blood work and urinalysis to evaluate blood chemistry, drug screen, and blood cell abnormalities that may indicate infection. Anatomic causes of coma are diagnosed from CT (computed tomography) or MRI (magnetic resonance imaging) scans." xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D003128 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000265 xsd:string [Term] id: SCDO:0000267 name: Comorbid Disease def: "A co-existing or additional disease with reference to an initial diagnosis or with reference to the index condition that is the subject of study." [] synonym: "Additional Disease" EXACT [] synonym: "Co-Existing Disease" EXACT [] synonym: "Co-Morbid Condition" EXACT [] synonym: "Co-Morbid Disease" EXACT [] is_a: DOID:4 ! Disease is_a: OGMS:0000023 ! Phenotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source http://purl.bioontology.org/ontology/MESH/D015897 property_value: SCDO:0000303 "Request inclusion into relevant ontology\n\nAs per: \"Transition and Sickle Cell Disease\" by Michael R. DeBaun, Joseph Telfair -- Include here: -- Asthma -- Osteonecrosis of the Femoral Head -- Restrictive Lung Disease (currently Chronic Restrictive Lung Disease in SCDO) -- Retinopathy -- Cardiac Dysfunction -- Renal Dysfunction/Renal Failure -- -- ...and others" xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000268 name: Comparative Study def: "Comparison of outcomes, results, responses, etc for different techniques, therapeutic approaches or other inputs." [] synonym: "Comparative Studies" EXACT [] xref: MESH:D003160 is_a: SCDO:0000437 ! Epidemiologic Studies property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D003160 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000268 xsd:string [Term] id: SCDO:0000271 name: Complementary Therapy def: "Therapeutic practices which are not currently considered an integral part of conventional allopathic medical practice. They may lack biomedical explanations but as they become better researched some (physical therapy modalities; diet; acupuncture) become widely accepted whereas others (humors, radium therapy) quietly fade away, yet are important historical footnotes. Therapies are termed as Complementary when used in addition to conventional treatments and as Alternative when used instead of conventional treatment. Year introduced: 2002(1986)." [] synonym: "Complementary Medicine" EXACT [] xref: MESH:D000529 is_a: SCDO:0001152 ! Therapeutics property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D000529 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000271 xsd:string [Term] id: SCDO:0000272 name: obsolete Compound Heterozygous Hemoglobinopathy def: "'Compound heterozygosity in medical genetics is the condition of having two heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state. [Curator team: []]'" [] is_a: SCDO:0001336 ! from phenotype is_obsolete: true [Term] id: SCDO:0000276 name: Conjunctival Comma Sign def: "Dark red, comma- or corkscrew-shaped vascular fragment that appears to be isolated from neighboring blood vessels in the conjunctiva. Normally benign, this lesion can serve as the first diagnostic sign of sickle cell retinopathy. The conjunctival comma sign results from transient vaso-occlusive processes in the microvasculature of bulbar conjunctiva. It is not seen in sickle trait, but is common in SCD." [] is_a: HP:0000478 ! Abnormality of the Eye is_a: NCIT:C115319 ! Ophthalmologic Complication relationship: SCDO:0000663 NCIT:C75583 ! diagnosed using tool Slit-Lamp Examination relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: SCDO:0000303 "Request inclusion into relevant ontology." xsd:string property_value: SCDO:0000340 "Ballas et al 2010 Am J Hematol" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000277 name: obsolete Consensus Development Conference def: "'A work that consists of summary statements representing the majority and current agreement of physicians, scientists, and other professionals meeting to reach a consensus on a selected subject. [Curator team: []]'" [] xref: MESH:D016446 is_a: SCDO:0000941 ! obsolete Publication Type property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D016446 xsd:string is_obsolete: true [Term] id: SCDO:0000278 name: obsolete Consensus Development Conference, NIH def: "'Work consisting of summary statements, from a conference sponsored by NIH, representing the majority of current opinion of physicians, scientists, and other professionals on a selected subject. [Curator team: []]'" [] synonym: "NIH Consensus Development Conference" EXACT [] xref: MESH:D016447 is_a: SCDO:0000277 ! obsolete Consensus Development Conference property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D016447 xsd:string is_obsolete: true [Term] id: SCDO:0000280 name: Consumer Assessment of Healthcare Providers and Systems (CAHPS) Health Plan Survey 4.0 Child Medicaid Questionnaire def: "A tool for collecting standardized information on enrollees' experiences with health plans and their services." [] comment: This measure includes general questions about access to care and quality of care and additional questions about the services provided to children with chronic conditions. Items CC1-CC38 of the questionnaire are version 4.0 of the Children with Chronic Conditions Item Set. xref: PhenX:820102 is_a: SCDO:0000947 ! Quality of Care Measure relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age property_value: http://purl.org/dc/elements/1.1/source https://www.phenxtoolkit.org/protocols/view/820102 property_value: SCDO:0000303 "Request inclusion into NCIT below \"Research or Clinical Assessment Tool\"." xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/820102 property_value: SCDO:0000479 "PhenX protocol: Quality of Care - Children #820102" xsd:string property_value: SCDO:0000481 "Proxy (Primary caregiver)" xsd:string property_value: SCDO:0000486 "Used to assess the patient-reported health care needs and quality of service from health care providers for individuals with chronic conditions such as sickle cell disease (SCD)." xsd:string property_value: SCDO:0001222 "Children and adolescents, ages 17 and younger" xsd:string property_value: SCDO:0001335 "yes" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000282 name: Controlled Pre-Post Studies def: "A study in which observations are made before and after an intervention, both in a group that receives the intervention and in a control group that does not." [] synonym: "Controlled Before-After Studies" EXACT [] xref: MESH:D065187 is_a: SCDO:0000437 ! Epidemiologic Studies property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D065187 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000282 xsd:string [Term] id: SCDO:0000283 name: obsolete Controlled Clinical Trial def: "'A work that reports on a clinical trial involving one or more test treatments, at least one control treatment, specified outcome measures for evaluating the studied intervention, and a bias-free method for assigning patients to the test treatment. The treatment may be drugs, devices, or procedures studied for diagnostic, therapeutic, or prophylactic effectiveness. Control measures include placebos, active medicine, no-treatment, dosage forms and regimens, historical comparisons, etc. When randomization using mathematical techniques, such as the use of a random numbers table, is employed to assign patients to test or control treatments, the trial is characterized as a randomized controlled trial. [Curator team: []]'" [] xref: MESH:D018848 is_a: SCDO:0000254 ! obsolete Clinical Trial property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D018848 xsd:string is_obsolete: true [Term] id: SCDO:0000284 name: Controlled Clinical Trials as Topic def: "Works about clinical trials involving one or more test treatments, at least one control treatment, specified outcome measures for evaluating the studied intervention, and a bias-free method for assigning patients to the test treatment. The treatment may be drugs, devices, or procedures studied for diagnostic, therapeutic, or prophylactic effectiveness. Control measures include placebos, active medicines, no-treatment, dosage forms and regimens, historical comparisons, etc. When randomization using mathematical techniques, such as the use of a random numbers table, is employed to assign patients to test or control treatments, the trials are characterized as randomized controlled trials as topic." [] xref: MESH:D018849 is_a: SCDO:0000259 ! Clinical Trials as Topic property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D018849 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000284 xsd:string [Term] id: SCDO:0000286 name: Coping Skill def: "A state of harmony between internal needs and external demands and the processes used in achieving this condition." [] synonym: "Adaptive Behavior" EXACT [] synonym: "Adaptive Behaviors" EXACT [] synonym: "Coping Behavior" EXACT [] synonym: "Coping Behaviors" EXACT [] synonym: "Coping Skills" EXACT [] synonym: "Psychologic Adaptation" EXACT [] synonym: "Psychological Adaptation" EXACT [] xref: MESH:D000223 is_a: SCDO:0000746 ! Mental Health property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D000223 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000286 xsd:string [Term] id: SCDO:0000287 name: Coping Strategies Questionnaire revised for Sickle Cell Disease (CSQ-SCD) def: "The CSQ-SCD consists of 78 items, which make up seven scales related to coping with pain in general: Diverting attention, Reinterpreting pain sensations, Calming self-statements, Ignoring pain sensations, Praying and hoping, Catastrophising, and Increasing activity level; together with six scales developed as specifically relevant to sickle cell disease: Fear self-statements, Anger self-statements, Isolation, Taking fluids, Resting, and Heat/cold/massage. Patients rated their use of each response from 0 = never to 6 = always, and scores were averaged to produce a mean for each scale. Two additional aspects were assessed by single items: perceived ability to control pain was rated from 0 = no control to 6 = complete control, and perceived ability to decrease pain was rated from 0 = can't decrease it at all to 6 = can decrease it completely." [] synonym: "Coping Strategies Questionnaire revised for Sickle Cell Disease" EXACT [] synonym: "CSQ-SCD" EXACT [] is_a: SCDO:0000953 ! Quality of Life Measure property_value: http://purl.org/dc/elements/1.1/source "Gil K.M., Abrams M.R., Phillips G. and Keefe F.J. (1989). Sickle cell disease pain: Relation of coping strategies to adjustment. Journal of Consulting and Clinical Psychology, 57, 725-731." xsd:string property_value: SCDO:0000303 "Request inclusion into NCIT below \"Research or Clinical Assessment Tool\"." xsd:string property_value: SCDO:0000340 "Abrams M.R., Phillips G. and Keefe F.J. (1989). Sickle cell disease pain: Relation of coping strategies" xsd:string property_value: SCDO:0000470 "Multiple countries and cultural groups" xsd:string property_value: SCDO:0000481 "Self" xsd:string property_value: SCDO:0000482 "Adults with SCD" xsd:string property_value: SCDO:0001033 "Demonstrated validity with SCD populations USA and UK; several publications." xsd:string property_value: SCDO:0001222 "Adults" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000288 name: Coping Strategies Questionnaire revised for Sickle Cell Disease Children (CSQ-SCD Children) def: "The CSQ-SCD consists of 78 items, which make up seven scales related to coping with pain in general: Diverting attention, Reinterpreting pain sensations, Calming self-statements, Ignoring pain sensations, Praying and hoping, Catastrophising, and Increasing activity level; together with six scales developed as specifically relevant to sickle cell disease: Fear self-statements, Anger self-statements, Isolation, Taking fluids, Resting, and Heat/cold/massage. Patients rated their use of each response from 0 = never to 6 = always, and scores were averaged to produce a mean for each scale. Two additional aspects were assessed by single items: perceived ability to control pain was rated from 0 = no control to 6 = complete control, and perceived ability to decrease pain was rated from 0 = can't decrease it at all to 6 = can decrease it completely." [] synonym: "CSQ-SCD Children" EXACT [] is_a: SCDO:0000953 ! Quality of Life Measure property_value: http://purl.org/dc/elements/1.1/source "Gil K.M., Williams D.A., Thompson, R.J. and Kinney, T.R. (1991). Sickle cell disease in children and adolescents: The relation of child and parent pain coping strategies to adjustment. Journal of Pediatric Psychology, 16, 643-663." xsd:string property_value: SCDO:0000303 "Request inclusion into NCIT below \"Research or Clinical Assessment Tool\"." xsd:string property_value: SCDO:0000340 "Gil K.M., Williams D.A., Thompson, R.J. and Kinney, T.R. (1991). Sickle cell disease in children and adolescents: The relation of child and parent pain coping strategies to adjustment. Journal of Pediatric Psychology, 16, 643-663." xsd:string property_value: SCDO:0000470 "Multiple countries and cultural groups" xsd:string property_value: SCDO:0000481 "Self" xsd:string property_value: SCDO:0000482 "Children with SCD" xsd:string property_value: SCDO:0001033 "Demonstrated validity with SCD populations USA and UK; several publications." xsd:string property_value: SCDO:0001222 "Children" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000291 name: Corticosteroid-Induced Adverse Event def: "A causal adverse drug event that is induced by a corticosteroid." [] is_a: SCDO:0000191 ! Causal Adverse Drug Event relationship: SCDO:1000199 CHEBI:50858 ! induced by Corticosteroid property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source http://www.sciencedirect.com/science/article/pii/S1526054213001218 property_value: http://purl.org/dc/elements/1.1/source https://www.ncbi.nlm.nih.gov/pubmed/18717146 property_value: http://purl.org/dc/elements/1.1/source https://www.ncbi.nlm.nih.gov/pubmed/19331266 property_value: SCDO:0000303 "Request inclusion into OAE below \"Causal Adverse Drug Event\"." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000292 name: Corticosteroid-Induced Vaso-Occlusive Adverse Event def: "A corticosteroid-induced adverse event that has the outcome of vaso-occlusion." [] is_a: SCDO:0000291 ! Corticosteroid-Induced Adverse Event relationship: SCDO:1000199 CHEBI:50858 ! induced by Corticosteroid property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.ncbi.nlm.nih.gov/pubmed/18717146 property_value: SCDO:0000303 "Request inclusion into OAE below \"Corticosteroid-Induced Adverse Event\" (also suggested by us for inclusion)." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000294 name: Cost of Illness def: "The personal cost of disease which may be economic, social, or psychological. The cost of illness may be reflected in absenteeism, productivity, response to treatment, peace of mind, or quality of life. It differs from health care costs, the societal cost of providing services related to the delivery of health care." [] synonym: "Burden of Illness" EXACT [] synonym: "Cost of Disease" EXACT [] synonym: "Cost of Sickness" EXACT [] synonym: "Costs of Disease" EXACT [] synonym: "Disease Cost" EXACT [] synonym: "Disease Costs" EXACT [] synonym: "Economic Burden of Disease" EXACT [] synonym: "Sickness Cost" EXACT [] xref: MESH:D017281 is_a: SCDO:0000496 ! Healthcare Access is_a: SCDO:0000746 ! Mental Health property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D017281 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000294 xsd:string [Term] id: SCDO:0000295 name: Cost-Effectiveness of Healthcare def: "The extent to which a health intervention can be regarded as providing value for money, based on a cost-effectiveness analysis that compares the costs and health effects of the intervention. This informs decision-makers who have to determine where to allocate limited healthcare resources." [] synonym: "Health Care Economics" EXACT [] synonym: "Health Economics" EXACT [] is_a: SCDO:0000495 ! Health Utility property_value: SCDO:0000303 "Request inclusion into relevant ontology, possibly into MESH, perhaps in an appropriate place below \"Quality of Health Care\"." xsd:string property_value: SCDO:0000340 http://www.medicine.ox.ac.uk/bandolier/painres/download/whatis/Cost-effect.pdf xsd:string property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:0000296 name: Creatinine Blood Test def: "A bioassay to measure the serum concentration of creatinine, a metabolite of muscle creatine that is filtered out of blood by the kidneys." [] synonym: "Blood Creatinine Assay" EXACT [] synonym: "Blood Creatinine Test" EXACT [] synonym: "Serum Creatinine" EXACT [] synonym: "Serum Creatinine Assay" EXACT [] xref: phenX:141400 is_a: SCDO:0000133 ! Blood Test is_a: SCDO:0000676 ! Kidney Function Test relationship: SCDO:0001297 CMO:0000057 ! has essential measure Serum Creatinine Level relationship: SCDO:0001297 NCIT:C17049 ! has essential measure Race relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:0001297 SCDO:0000567 ! has essential measure History of Kidney Failure Diagnostic Instrument relationship: SCDO:0001297 SCDO:0000570 ! has essential measure History of Type I and Type 2 Diabetes Diagnostic Instrument relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/141401 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000296 xsd:string [Term] id: SCDO:0000297 name: Crisis Intervention def: "Brief therapeutic approach which is ameliorative rather than curative of acute psychiatric emergencies. Used in contexts such as emergency rooms of psychiatric or general hospitals, or in the home or place of crisis occurrence, this treatment approach focuses on interpersonal and intrapsychic factors and environmental modification. (APA Thesaurus of Psychological Index Terms, 7th ed)" [] synonym: "Crisis Interventions" EXACT [] synonym: "Interventions, Crisis" EXACT [] xref: MESH:D003419 is_a: SCDO:0000940 ! Psychotherapy property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D003419 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000297 xsd:string [Term] id: SCDO:0000298 name: Cross-Sectional Studies def: "Studies in which the presence or absence of disease or other health-related variables are determined in each member of the study population or in a representative sample at one particular time. This contrasts with longitudinal studies which are followed over a period of time." [] synonym: "Cross-Sectional Analysis" EXACT [] synonym: "Cross-Sectional Study" EXACT [] xref: MESH:D003430 is_a: SCDO:0000437 ! Epidemiologic Studies property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D003430 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000298 xsd:string [Term] id: SCDO:0000299 name: Culture def: "A collective expression for all behaviour patterns acquired and socially transmitted through symbols. Culture includes customs, traditions, and language." [] synonym: "Cultural Beliefs" EXACT [] synonym: "Cultural Values" EXACT [] xref: MESH:D003469 is_a: NCIT:C17047 ! Quality of Life property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D003469 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000299 xsd:string [Term] id: SCDO:0000301 name: Curative Therapeutics def: "Therapeutics relating to or used in the cure of diseases." [] is_a: SCDO:0001152 ! Therapeutics property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: http://purl.org/dc/elements/1.1/source http://www.merriam-webster.com/dictionary/curative xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000304 name: Current Age def: "The length of time that a person has lived since their birth up until the current day." [] synonym: "Current Chronological Age" EXACT [] is_a: NCIT:C25150 ! Age property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but available definitions not adequate" xsd:string [Term] id: SCDO:0000305 name: Current Educational Attainment def: "The respondent's highest level of education at the current time." [] synonym: "Educational Attainment" EXACT [] is_a: NCIT:C16495 ! Demographic Factor is_a: SCDO:0000414 ! Education is_a: SCDO:0001090 ! Socioeconomic Factors is_a: SCDO:1000157 ! Quality of Life Related Personal Attribute relationship: SCDO:0001297 SCDO:0000056 ! has essential measure Annual Family Income relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age property_value: SCDO:0000303 "Request inclusion into MESH below \"Socioeconomic Factors\"." xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/11001 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000306 name: Current Employment Status def: "The respondent's current employment status." [] synonym: "Employment Status" EXACT [] xref: phenX:11301 is_a: NCIT:C16495 ! Demographic Factor is_a: SCDO:0001090 ! Socioeconomic Factors is_a: SCDO:1000157 ! Quality of Life Related Personal Attribute relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/11301 property_value: SCDO:0000479 "PhenX protocol: Current Employment Status #11301" xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000306 xsd:string [Term] id: SCDO:0000307 name: Current Marital Status def: "The respondent's current marital status." [] synonym: "Marital or Partnership Status" EXACT [] synonym: "Marital Status" EXACT [] xref: phenX:10902 is_a: NCIT:C16495 ! Demographic Factor is_a: SCDO:0001090 ! Socioeconomic Factors is_a: SCDO:1000157 ! Quality of Life Related Personal Attribute relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age property_value: SCDO:0000303 "Can add sub-classes of \"Marital Status\" from MESH." xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/10902 property_value: SCDO:0000479 "PhenX protocol: Current Marital Status #10902" xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000307 xsd:string [Term] id: SCDO:0000310 name: Blood Cystatin C Level def: "The amount of the protein cystatin C (formerly gamma trace, post-gamma-globulin or neuroendocrine basic polypeptide) found in a specified sample of blood. This extracellular cystatin subtype is abundantly expressed in bodily fluids." [] synonym: "Blood CC Level" EXACT [] synonym: "Blood Cst3 Level" RELATED [] synonym: "Cystatin 3 Level" EXACT [] synonym: "Gamma Trace Level" EXACT [] synonym: "Gamma-Trace Level" EXACT [] synonym: "Neuroendocrine Basic Polypeptide Level" EXACT [] synonym: "Post Gamma Globulin Level" EXACT [] synonym: "Post-Gamma-Globulin Level" EXACT [] xref: CMO:0002777 is_a: CMO:0000023 ! Blood Chemistry Measurement relationship: SCDO:1000190 SCDO:1000310 ! obtained via diagnostic tool Cystatin C Blood Test property_value: http://purl.org/dc/elements/1.1/source http://www.revespcardiol.org/en/cystatin-c-and-cardiovascular-risk/articulo/13149959/ property_value: SCDO:0000303 "This class is used as a biomarker of kidney function and kidney disease." xsd:string property_value: SCDO:0000340 CMO:0002777 property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D055316 xsd:string property_value: SCDO:0000340 http://www.ebi.ac.uk/efo/EFO_0004617 xsd:string property_value: SCDO:1000288 "Suggest update to description in CMO" xsd:string [Term] id: SCDO:0000311 name: D57 Sickle-Cell Disorders def: "A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia." [] synonym: "D57" EXACT [] xref: ICD10CM:D57 is_a: SCDO:0000607 ! ICD-10-CM Diagnosis Codes property_value: SCDO:0000340 http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57- xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000311 xsd:string [Term] id: SCDO:0000312 name: D57.0 Hb-SS disease with crisis def: "Broad term used to describe several different acute conditions occurring with sickle cell disease, including aplastic crisis, hemolytic crisis, and vasoocclusive crisis." [] synonym: "D57.0" EXACT [] synonym: "Hb-SS disease with vasoocclusive pain" EXACT [] synonym: "Sickle cell anemia with crisis" EXACT [] synonym: "Sickle cell anemia with vasoocclusive pain" EXACT [] xref: ICD10CM:D57.0 is_a: SCDO:0000311 ! D57 Sickle-Cell Disorders relationship: SCDO:1000785 NCIT:C131682 ! code requires phenotype Sickle Cell Disease-SS relationship: SCDO:1000785 SCDO:0001053 ! code requires phenotype Sickle Cell Painful Event property_value: SCDO:0000340 http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.0 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000312 xsd:string [Term] id: SCDO:0000313 name: D57.01 Hb-SS disease with acute chest syndrome def: "-" [] synonym: "D57.01" EXACT [] synonym: "Hb-SS disease with acute chest syndrome" EXACT [] synonym: "Sickle cell anemia with acute chest syndrome" EXACT [] synonym: "Sickle cell anemia, acute chest syndrome" EXACT [] xref: ICD10CM:D57.01 is_a: SCDO:0000312 ! D57.0 Hb-SS disease with crisis relationship: SCDO:1000785 DOID:1584 ! code requires phenotype Acute Chest Syndrome relationship: SCDO:1000785 NCIT:C131682 ! code requires phenotype Sickle Cell Disease-SS relationship: SCDO:1000785 SCDO:0001053 ! code requires phenotype Sickle Cell Painful Event property_value: http://purl.org/dc/elements/1.1/source http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.01 xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:0000314 name: D57.02 Hb-SS disease with splenic sequestration def: "-" [] synonym: "Acute sickle cell splenic sequestration crisis" EXACT [] synonym: "D57.02" EXACT [] synonym: "Hb-SS disease with splenic sequestration" EXACT [] synonym: "Sickle cell anemia acute crisis splenic sequestration" EXACT [] xref: ICD10CM:D57.02 is_a: SCDO:0000312 ! D57.0 Hb-SS disease with crisis relationship: SCDO:1000785 NCIT:C131682 ! code requires phenotype Sickle Cell Disease-SS relationship: SCDO:1000785 SCDO:0007161 ! code requires phenotype Acute Splenic Sequestration Crisis property_value: http://purl.org/dc/elements/1.1/source http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.02 xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:0000315 name: D57.1 Sickle-cell disease without crisis def: "-" [] synonym: "D57.1" EXACT [] synonym: "Sickle cell anemia without crisis" EXACT [] synonym: "Sickle-cell disease without crisis" EXACT [] xref: ICD10CM:D57.1 is_a: SCDO:0000311 ! D57 Sickle-Cell Disorders relationship: SCDO:1000785 NCIT:C131682 ! code requires phenotype Sickle Cell Disease-SS property_value: http://purl.org/dc/elements/1.1/source http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.1 xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000316 name: D57.2 Sickle-cell/Hb-C disease def: "One of the sickle cell disorders characterized by the presence of both hemoglobin s and hemoglobin c. It is similar to, but less severe than sickle cell anemia." [] synonym: "D57.2" EXACT [] xref: ICD10CM:D57.2 is_a: SCDO:0000311 ! D57 Sickle-Cell Disorders relationship: SCDO:1000785 SCDO:0001059 ! code requires phenotype Sickle Cell Disease-SC property_value: SCDO:0000340 http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.2 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000316 xsd:string [Term] id: SCDO:0000317 name: D57.20 Sickle-cell/Hb-C disease without crisis def: "-" [] synonym: "D57.20" EXACT [] synonym: "Sickle Cell Disease-SC without crisis" EXACT [] synonym: "Sickle-cell/Hb-C disease without crisis" EXACT [] xref: ICD10CM:D57.20 is_a: SCDO:0000316 ! D57.2 Sickle-cell/Hb-C disease relationship: SCDO:1000785 NCIT:C3833 ! code requires phenotype Asymptomatic relationship: SCDO:1000785 SCDO:0001059 ! code requires phenotype Sickle Cell Disease-SC property_value: http://purl.org/dc/elements/1.1/source http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.20 xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000318 name: D57.21 Sickle-cell/Hb-C disease with crisis def: "-" [] synonym: "D57.21" EXACT [] synonym: "Sickle Cell Disease-SC with crisis" EXACT [] synonym: "Sickle-cell/Hb-C disease with crisis" EXACT [] xref: ICD10CM:D57.21 is_a: SCDO:0000316 ! D57.2 Sickle-cell/Hb-C disease relationship: SCDO:1000785 SCDO:0001053 ! code requires phenotype Sickle Cell Painful Event relationship: SCDO:1000785 SCDO:0001059 ! code requires phenotype Sickle Cell Disease-SC property_value: http://purl.org/dc/elements/1.1/source http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.21 xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000319 name: D57.211 Sickle-cell/Hb-C disease with acute chest syndrome def: "-" [] synonym: "Acute chest syndrome due to sickle cell-hemoglobin c disease crisis" EXACT [] synonym: "Acute chest syndrome sickle cell hb-c crisis" EXACT [] synonym: "D57.211" EXACT [] synonym: "Sickle Cell Disease-SC with acute chest syndrome" EXACT [] synonym: "Sickle-cell/Hb-C disease with acute chest syndrome" EXACT [] xref: ICD10CM:D57.211 is_a: SCDO:0000318 ! D57.21 Sickle-cell/Hb-C disease with crisis relationship: SCDO:1000785 DOID:1584 ! code requires phenotype Acute Chest Syndrome relationship: SCDO:1000785 SCDO:0001053 ! code requires phenotype Sickle Cell Painful Event relationship: SCDO:1000785 SCDO:0001059 ! code requires phenotype Sickle Cell Disease-SC property_value: http://purl.org/dc/elements/1.1/source http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.211 xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000320 name: D57.212 Sickle-cell/Hb-C disease with splenic sequestration def: "-" [] synonym: "D57.212" EXACT [] synonym: "Sickle Cell Disease-SC with splenic sequestration" EXACT [] synonym: "Sickle-cell/Hb-C disease with splenic sequestration" EXACT [] xref: ICD10CM:D57.212 is_a: SCDO:0000318 ! D57.21 Sickle-cell/Hb-C disease with crisis relationship: SCDO:1000785 SCDO:0001059 ! code requires phenotype Sickle Cell Disease-SC relationship: SCDO:1000785 SCDO:0007161 ! code requires phenotype Acute Splenic Sequestration Crisis property_value: http://purl.org/dc/elements/1.1/source http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.212 xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000321 name: D57.219 Sickle-cell/Hb-C disease with crisis, unspecified def: "-" [] synonym: "D57.219" EXACT [] synonym: "Sickle Cell Disease-SC with crisis NOS" EXACT [] synonym: "Sickle Cell Disease-SC with crisis, unspecified" EXACT [] synonym: "Sickle Cell Disease-SC with vasoocclusive pain NOS" EXACT [] synonym: "Sickle cell-hemoglobin c disease with crisis" EXACT [] synonym: "Sickle-cell/Hb-C disease with crisis NOS" EXACT [] synonym: "Sickle-cell/Hb-C disease with crisis, unspecified" EXACT [] synonym: "Sickle-cell/Hb-C disease with vasoocclusive pain NOS" EXACT [] xref: ICD10CM:D57.219 is_a: SCDO:0000318 ! D57.21 Sickle-cell/Hb-C disease with crisis relationship: SCDO:1000785 SCDO:0001053 ! code requires phenotype Sickle Cell Painful Event relationship: SCDO:1000785 SCDO:0001059 ! code requires phenotype Sickle Cell Disease-SC property_value: http://purl.org/dc/elements/1.1/source http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.219 xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000322 name: D57.3 Sickle-cell trait def: "The condition of being heterozygous for hemoglobin S." [] synonym: "D57.3" EXACT [] xref: ICD10CM:D57.3 is_a: SCDO:0000311 ! D57 Sickle-Cell Disorders relationship: SCDO:1000785 SCDO:0001055 ! code requires phenotype Sickle Cell Trait property_value: SCDO:0000340 http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.3 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000322 xsd:string [Term] id: SCDO:0000323 name: D57.4 Sickle-cell thalassemia def: "Hemolytic anemia, in which patients are heterozygous for both the sickle cell gene and a thalassemia gene." [] synonym: "D57.4" EXACT [] xref: ICD10CM:D57.4 is_a: SCDO:0000311 ! D57 Sickle-Cell Disorders relationship: SCDO:1000785 SCDO:0007656 ! code requires phenotype Sickle Cell Thalassemia property_value: SCDO:0000340 http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.4 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000323 xsd:string [Term] id: SCDO:0000324 name: D57.40 Sickle-cell thalassemia without crisis def: "-" [] synonym: "D57.40" EXACT [] xref: ICD10CM:D57.40 is_a: SCDO:0000323 ! D57.4 Sickle-cell thalassemia relationship: SCDO:1000785 NCIT:C3833 ! code requires phenotype Asymptomatic relationship: SCDO:1000785 NCIT:C95539 ! code requires phenotype Sickle Beta Thalassemia property_value: http://purl.org/dc/elements/1.1/source http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.40 xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000325 name: D57.41 Sickle-cell thalassemia, unspecified, with crisis def: "-" [] synonym: "D57.41" EXACT [] synonym: "Sickle-cell thalassemia with (painful) crisis" EXACT [] synonym: "Sickle-cell thalassemia with crisis" EXACT [] synonym: "Sickle-cell thalassemia with vasoocclusive pain" EXACT [] xref: ICD10CM:D57.41 is_a: SCDO:0000323 ! D57.4 Sickle-cell thalassemia relationship: SCDO:1000785 NCIT:C95539 ! code requires phenotype Sickle Beta Thalassemia relationship: SCDO:1000785 SCDO:0001053 ! code requires phenotype Sickle Cell Painful Event property_value: http://purl.org/dc/elements/1.1/source http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.41 xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000326 name: D57.411 Sickle-cell thalassemia, unspecified, with acute chest syndrome def: "-" [] synonym: "D57.411" EXACT [] synonym: "Sickle-cell thalassemia, unspecified, with acute chest syndrome" EXACT [] xref: ICD10CM:D57.411 is_a: SCDO:0000325 ! D57.41 Sickle-cell thalassemia, unspecified, with crisis relationship: SCDO:1000785 DOID:1584 ! code requires phenotype Acute Chest Syndrome relationship: SCDO:1000785 NCIT:C95539 ! code requires phenotype Sickle Beta Thalassemia relationship: SCDO:1000785 SCDO:0001053 ! code requires phenotype Sickle Cell Painful Event property_value: http://purl.org/dc/elements/1.1/source http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.411 xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000327 name: D57.412 Sickle-cell thalassemia, unspecified, with splenic sequestration def: "-" [] synonym: "D57.412" EXACT [] synonym: "Sickle cell thalassemia with splenic sequestration" EXACT [] synonym: "Sickle-cell thalassemia, unspecified, with splenic sequestration" EXACT [] xref: ICD10CM:D57.412 is_a: SCDO:0000325 ! D57.41 Sickle-cell thalassemia, unspecified, with crisis relationship: SCDO:1000785 NCIT:C95539 ! code requires phenotype Sickle Beta Thalassemia relationship: SCDO:1000785 SCDO:0007161 ! code requires phenotype Acute Splenic Sequestration Crisis property_value: http://purl.org/dc/elements/1.1/source http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.412 xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000328 name: D57.419 Sickle-cell thalassemia, unspecified, with crisis def: "-" [] synonym: "D57.419" EXACT [] synonym: "Sickle-cell thalassemia with (painful) crisis NOS" EXACT [] synonym: "Sickle-cell thalassemia with vasoocclusive pain NOS" EXACT [] synonym: "Sickle-cell thalassemia, unspecified, with crisis" EXACT [] xref: ICD10CM:D57.419 is_a: SCDO:0000325 ! D57.41 Sickle-cell thalassemia, unspecified, with crisis relationship: SCDO:1000785 NCIT:C95539 ! code requires phenotype Sickle Beta Thalassemia relationship: SCDO:1000785 SCDO:0001053 ! code requires phenotype Sickle Cell Painful Event property_value: http://purl.org/dc/elements/1.1/source http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.419 xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000329 name: D57.8 Other sickle-cell disorders def: "-" [] synonym: "D57.8" EXACT [] synonym: "Other sickle-cell disorders" EXACT [] xref: ICD10CM:D57.8 is_a: SCDO:0000311 ! D57 Sickle-Cell Disorders property_value: http://purl.org/dc/elements/1.1/source http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.8 xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000330 name: D57.80 Other sickle-cell disorders without crisis def: "-" [] synonym: "D57.80" EXACT [] xref: ICD10CM:D57.80 is_a: SCDO:0000329 ! D57.8 Other sickle-cell disorders relationship: SCDO:1000785 NCIT:C3833 ! code requires phenotype Asymptomatic property_value: http://purl.org/dc/elements/1.1/source http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.80 xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000331 name: D57.81 Other sickle-cell disorders with crisis def: "-" [] synonym: "D57.81" EXACT [] xref: ICD10CM:D57.81 is_a: SCDO:0000329 ! D57.8 Other sickle-cell disorders relationship: SCDO:1000785 SCDO:0001053 ! code requires phenotype Sickle Cell Painful Event property_value: http://purl.org/dc/elements/1.1/source http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.81 xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000332 name: D57.811 Other sickle-cell disorders with acute chest syndrome def: "-" [] synonym: "D57.811" EXACT [] xref: ICD10CM:D57.811 is_a: SCDO:0000331 ! D57.81 Other sickle-cell disorders with crisis relationship: SCDO:1000785 DOID:1584 ! code requires phenotype Acute Chest Syndrome relationship: SCDO:1000785 SCDO:0001053 ! code requires phenotype Sickle Cell Painful Event property_value: http://purl.org/dc/elements/1.1/source http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.811 xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000333 name: D57.812 Other sickle-cell disorders with splenic sequestration def: "-" [] synonym: "D57.812" EXACT [] xref: ICD10CM:D57.812 is_a: SCDO:0000331 ! D57.81 Other sickle-cell disorders with crisis relationship: SCDO:1000785 SCDO:0007161 ! code requires phenotype Acute Splenic Sequestration Crisis property_value: http://purl.org/dc/elements/1.1/source http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.812 xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000334 name: D57.819 Other sickle-cell disorders with crisis, unspecified def: "-" [] synonym: "D57.819" EXACT [] xref: ICD10CM:D57.819 is_a: SCDO:0000331 ! D57.81 Other sickle-cell disorders with crisis relationship: SCDO:1000785 SCDO:0001053 ! code requires phenotype Sickle Cell Painful Event property_value: http://purl.org/dc/elements/1.1/source http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.819 xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000338 name: obsolete Protein Molecule def: "'Protein molecule are large, complex molecules that play many critical roles in the body. They do most of the work in cells and are required for the structure, function, and regulation of the body's tissues and organs. [Curator team: []]'" [] is_a: SCDO:0000359 ! deprecated terms property_value: SCDO:0000340 https://ghr.nlm.nih.gov/primer/howgeneswork/protein xsd:string is_obsolete: true [Term] id: SCDO:0000343 name: Delta Beta Thalassemia def: "A form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis." [] synonym: "Delta Beta Thalassaemia" EXACT [] synonym: "Delta-Beta-Thalassaemia" EXACT [] synonym: "Delta-Beta-Thalassemia" EXACT [] synonym: "F Thalassaemia" EXACT [] xref: ORPHA:231237 is_a: SCDO:0000111 ! Beta Thalassemia relationship: SCDO:0001364 HP:0000007 ! has mode of inheritance Autosomal Recessive relationship: SCDO:1000172 SCDO:0005671 ! has causal genotype HBB and HBD Deletion relationship: SCDO:1000210 SCDO:0005671 ! has causal or contributing genetic variation HBB and HBD Deletion relationship: SCDO:1000210 SCDO:1000209 ! has causal or contributing genetic variation Crossover between delta (HBD) and beta globin (HBB) gene loci relationship: SCDO:1000223 SCDO:0000976 ! has causal molecular phenotype Reduced Hemoglobin A property_value: SCDO:0000340 Orphanet:231237 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000343 xsd:string [Term] id: SCDO:0000344 name: Delta Thalassemia def: "A hereditary disorder characterized by reduced or absent delta-globin thus effecting the level of hemoglobin A2, a minor component of adult hemoglobin monitored in the diagnosis of beta-thalassemia." [] synonym: "Delta Thalassaemia" EXACT [] synonym: "Delta Thalassaemias" EXACT [] synonym: "Delta Thalassemias" EXACT [] synonym: "Delta-Thalassaemia" EXACT [] synonym: "Delta-Thalassaemias" EXACT [] synonym: "Delta-Thalassemia" EXACT [] xref: MESH:D055538 is_a: NCIT:C35069 ! Thalassemia property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D055538 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000344 xsd:string [Term] id: SCDO:0000346 name: Dengue Fever def: "An acute febrile disease transmitted by the bite of AEDES mosquitoes infected with Dengue Virus. It is self-limiting and characterized by fever, myalgia, headache, and rash. Severe Dengue is a more virulent form of dengue." [] synonym: "Break Bone Fever" EXACT [] synonym: "Break-Bone fever" EXACT [] synonym: "Breakbone Fever" EXACT [] synonym: "Dengue" EXACT [] xref: MESH:D003715 is_a: NCIT:C3439 ! Viral Infection relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D003715 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000346 xsd:string [Term] id: SCDO:0000347 name: deprecated Dental System def: "'The system pertaining to teeth, oral cavity, and associated structures. [Curator team: []]'" [] is_a: SCDO:0001336 ! from phenotype property_value: SCDO:0000340 http://medical-dictionary.thefreedictionary.com/dentistry xsd:string is_obsolete: true [Term] id: SCDO:0000359 name: deprecated terms def: "Terms that are no longer being used in the ontology." [] [Term] id: SCDO:0000360 name: Depression def: "A common mental disorder, characterized by sadness, hopelessness, loss of interest or pleasure, feelings of guilt or low self-worth, disturbed sleep or appetite, feelings of tiredness, and poor concentration. Depression can be long-lasting or recurrent, substantially impairing an individual's ability to function at work or school or cope with daily life." [] synonym: "Depressive Symptoms" EXACT [] synonym: "Low Mood" EXACT [] xref: SIO:000824 is_a: HP:0000708 ! Behavioural Abnormality is_a: SCDO:0000746 ! Mental Health is_a: SCDO:0000954 ! Quality of Life Related SCD Symptoms and Complications relationship: SCDO:0000664 SCDO:0000940 ! treated with Psychotherapy relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://www.who.int/topics/depression/en/ xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000360 xsd:string [Term] id: SCDO:0000365 name: Dexterity def: "Skill in performing tasks, especially with the hands." [] is_a: SCDO:0000900 ! Physical Functioning property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://en.oxforddictionaries.com/definition/dexterity xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000376 name: Diagnostic Device def: "A medical device used to diagnose medical conditions." [] xref: ERO:0001448 is_a: SCDO:0000379 ! Diagnostics property_value: SCDO:0000340 http://purl.obolibrary.org/obo/ERO_0001448 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000376 xsd:string [Term] id: SCDO:0000379 name: Diagnostics def: "Diagnostic tools (including the instruments, laboratory assays and methods of patient examination) used for differential diagnosis, the measurements obtained using these tools, and the diagnostic devices used in obtaining the measurements." [] is_a: SCDO:0001000 ! SCDO property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000380 name: Diclofenac def: "A non-steroidal anti-inflammatory agent (NSAID) with antipyretic and analgesic actions. It is primarily available as the sodium salt." [] synonym: "2-((2,6-dichlorophenyl)amino)benzeneacetic acid" EXACT [] synonym: "[2-(2,6-dichloroanilino)phenyl]acetic acid" EXACT [] synonym: "Diclofenac Acid" EXACT [] synonym: "Orthofen" EXACT [] xref: MESH:D004008 is_a: CHEBI:35475 ! Non-Steroidal Anti-Inflammatory Drug is_a: CHEBI:35493 ! Antipyretic relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D004008 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000380 xsd:string [Term] id: SCDO:0000382 name: Diet, Food, and Nutrition def: "Concepts involved with nutritional physiology, including categories of substances eaten for sustenance, nutritional phenomena and processes, eating patterns and habits, and measurable nutritional parameters." [] xref: MESH:D000066888 is_a: SCDO:0000487 ! Health Behaviour relationship: SCDO:1000018 HP:0000938 ! treats Osteopenia relationship: SCDO:1000018 HP:0001298 ! treats Encephalopathy relationship: SCDO:1000018 HP:0002076 ! treats Migraine relationship: SCDO:1000018 HP:0009830 ! treats Peripheral Neuropathy property_value: SCDO:0000303 "Should this term rather be replaced by more specific terms such as Dietary Intake? Or have such terms as sub-classes?" xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D000066888 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000382 xsd:string [Term] id: SCDO:0000383 name: obsolete Diffusion Capacity by Biochemical Methods is_a: SCDO:0000359 ! deprecated terms is_obsolete: true [Term] id: SCDO:0000384 name: Diffusion Capacity of Lung def: "The amount of a gas taken up, by the pulmonary capillary blood from the alveolar gas, per minute per unit of average pressure of the gradient of the gas across the blood-air barrier." [] synonym: "Alveolar membrane diffusion capacity" EXACT [] synonym: "Diffusing Capacity" EXACT [] synonym: "DL" EXACT [] synonym: "Membrane diffusion capacity" EXACT [] synonym: "Pulmonary Diffusing Capacity" EXACT [] xref: MESH:D011653 is_a: CMO:0000094 ! Respiratory System Measurement relationship: SCDO:0001297 NCIT:C16564 ! has essential measure Ethnic Group relationship: SCDO:0001297 NCIT:C17049 ! has essential measure Race relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000149 ! has essential measure Body Height relationship: SCDO:0001297 SCDO:0000152 ! has essential measure Body Weight relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:1000190 SCDO:0000385 ! obtained via diagnostic tool Diffusion Capacity Test property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D011653 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000384 xsd:string [Term] id: SCDO:0000385 name: Diffusion Capacity Test def: "Clinical assessment to determine the capacity of an individual's lung to exchange gases (e.g., oxygen and carbon dioxide) across the alveolar-capillary interface." [] synonym: "Pulmonary Diffusing Capacity Test" EXACT [] xref: phenX:810301 is_a: SCDO:0000942 ! Pulmonary Function Test relationship: SCDO:0001297 NCIT:C16564 ! has essential measure Ethnic Group relationship: SCDO:0001297 NCIT:C17049 ! has essential measure Race relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000149 ! has essential measure Body Height relationship: SCDO:0001297 SCDO:0000152 ! has essential measure Body Weight relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:1000194 SCDO:0000384 ! measures Diffusion Capacity of Lung property_value: SCDO:0000303 "Suggest update to label in PhenX (from \"Lung Function - Diffusion Capacity\")\n\nNeed to add equipment used for this test under \"Devices\" and link to them below." xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/810301 property_value: SCDO:0000479 "PhenX protocol: Lung Function - Diffusion Capacity #810301" xsd:string property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0000386 name: Disability-Adjusted Life Year (DALY) def: "One DALY can be thought of as one lost year of \"healthy\" life. The sum of these DALYs across the population, or the burden of disease, can be thought of as a measurement of the gap between current health status and an ideal health situation where the entire population lives to an advanced age, free of disease and disability." [] comment: Calculation: DALY = YLL + YLD - The YLL basically correspond to the number of deaths multiplied by the standard life expectancy at the age at which death occurs. The basic formula for YLL (without yet including other social preferences discussed below), is the following for a given cause, age and sex: YLL = N x L where: N = number of deaths L = standard life expectancy at age of death in years. Because YLL measure the incident stream of lost years of life due to deaths, an incidence perspective has also been taken for the calculation of YLD in the original Global Burden of Disease Study for year 1990 and in subsequent WHO updates for years 2000 to 2004. To estimate YLD for a particular cause in a particular time period, the number of incident cases in that period is multiplied by the average duration of the disease and a weight factor that reflects the severity of the disease on a scale from 0 (perfect health) to 1 (dead). The basic formula for YLD is the following (again, without applying social preferences): YLD = I x DW x L where: I = number of incident cases; DW = disability weight; L = average duration of the case until remission or death (years). Prevalence YLD - The recent GBD 2010 study published by IHME in December 2012 used an updated life expectancy standard for the calculation of YLL and based the YLD calculation on prevalence rather than incidence: YLD = P x DW where: P = number of prevalent cases; DW = disability weight. synonym: "DALY" EXACT [] synonym: "Disability-Adjusted Life Year" EXACT [] is_a: SCDO:0000495 ! Health Utility is_a: SCDO:0000951 ! Quality of Life and Care Measure property_value: SCDO:0000340 https://www.who.int/healthinfo/global_burden_disease/metrics_daly/en/ property_value: SCDO:0000470 "Multiple countries and cultural groups" xsd:string property_value: SCDO:0000481 "Self; Proxy" xsd:string property_value: SCDO:0000482 "All" xsd:string property_value: SCDO:0001033 "WHO Global Burden of Disease assessment, also used in SCD studies" xsd:string property_value: SCDO:0001222 "Children and adults" xsd:string property_value: SCDO:0001335 "no" xsd:string property_value: SCDO:1000288 "Few but definitions not specific enough" xsd:string [Term] id: SCDO:0000388 name: Disaster def: "Sudden calamitous events producing great material damage, loss, and distress. They are the result of natural phenomena such as earthquakes, floods, etc. Calamities producing great damage, loss of life, and distress. They include results of natural phenomena and man-made phenomena. Normal conditions of existence are disrupted and the level of impact exceeds the capacity of the hazard-affected community." [] synonym: "Disasters" EXACT [] synonym: "Natural Disaster" EXACT [] synonym: "Natural Disasters" EXACT [] xref: MESH:D004190 is_a: SCDO:0000897 ! Physical Environment property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D004190 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000388 xsd:string [Term] id: SCDO:0000391 name: Disease Modifier def: "A factor that modifies one or more aspects of a disease, such as sickle cell disease (SCD) (e.g. aspects such as temporal pattern, age of onset and mortality), for specific phenotype(s) of the disease." [] synonym: "Phenotypic Modifier" EXACT [] is_a: SCDO:0001000 ! SCDO property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000303 "These article contains a recent description of disease modifiers for SCD: http://www.nejm.org/doi/10.1056/NEJMra1510865 -- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4562292/ -- -- Paper mentioning haplotypes and severity: -- https://www.nature.com/scitable/topicpage/sickle-cell-anemia-a-look-at-global-8756219 -- -- Initially, the HP term \"Clinical Modifier\" (HP:0012823) was used to define this class, but its usage was found to be more \"ontology-based\" than what the SCDO intended." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000396 name: Doppler Ultrasound Machine - 2 Megahertz def: "A diagnostic ultrasound-based imaging technique operating at the frequency range of 2 megahertz. This machine makes use of the doppler effect to measure and visualise blood flow for possible pathology or lesions within blood vessels." [] is_a: OBI:0001098 ! Ultrasound Machine relationship: SCDO:1000191 SCDO:0001114 ! used by diagnostic tool Stroke Risk Test in Children with Sickle Cell Disease property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Clair Ingram)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000397 name: Drug Clearance Decreased AE def: "An adverse event that has an outcome of a decreased amount of the drug excreted by the body." [] xref: OAE:0000887 is_a: SCDO:0000028 ! Adverse Drug Event property_value: SCDO:0000340 http://purl.obolibrary.org/obo/OAE_0000887 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000397 xsd:string [Term] id: SCDO:0000398 name: Drug Dependence AE def: "An adverse drug event that results in the development of a dependence on the drug." [] xref: OAE:0000888 is_a: SCDO:0000028 ! Adverse Drug Event property_value: SCDO:0000340 http://purl.obolibrary.org/obo/OAE_0000888 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000398 xsd:string [Term] id: SCDO:0000399 name: Drug Intake def: "The amount of drug substances taken into the body." [] is_a: SCDO:0000487 ! Health Behaviour property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "This seemed an obvious addition to the modifier class?" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000400 name: Drug Intolerance AE def: "A drug AE that has an outcome of lower threshold to the normal pharmacologic action of a drug." [] xref: OAE:0000891 is_a: SCDO:0000028 ! Adverse Drug Event property_value: SCDO:0000340 http://purl.obolibrary.org/obo/OAE_0000891 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000400 xsd:string [Term] id: SCDO:0000401 name: Drug Withdrawal Syndrome AE def: "An adverse event that results in symptoms that occur after the discontinuation of the use of a certain drug." [] xref: OAE:0000893 is_a: SCDO:0000028 ! Adverse Drug Event property_value: SCDO:0000340 http://purl.obolibrary.org/obo/OAE_0000893 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000401 xsd:string [Term] id: SCDO:0000402 name: Drug-Induced Neuropathy AE def: "A neuropathy AE that is induced by a drug administration." [] xref: OAE:0000165 is_a: SCDO:0000191 ! Causal Adverse Drug Event relationship: SCDO:1000199 CHEBI:23888 ! induced by Drug property_value: SCDO:0000340 http://purl.obolibrary.org/obo/OAE_0000165 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000402 xsd:string [Term] id: SCDO:0000405 name: deprecated Ear, Nose and Throat def: "'The combined specialties of diseases of the ear, pharynx, and larynx, including the upper respiratory tract and diseases of the head and neck, tracheobronchial tree, and esophagus. [Curator team: []]'" [] synonym: "Otolaryngology" EXACT [] is_a: SCDO:0001336 ! from phenotype property_value: SCDO:0000340 http://medical-dictionary.thefreedictionary.com/ear+nose+and+throat xsd:string is_obsolete: true [Term] id: SCDO:0000407 name: Ecchymosis def: "A small hemorrhagic spot, larger than a petechia, in the skin or mucous membrane forming a nonelevated, rounded or irregular, blue or purplish patch." [] synonym: "Ecchymoses" EXACT [] xref: HP:0031364 is_a: HP:0002597 ! Abnormality of the Vasculature property_value: SCDO:0000303 "Suggest update to description. The term in the HPO was not detailed enough." xsd:string property_value: SCDO:0000340 "v=onepage&q&f=false" property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000409 name: Echocardiogram def: "A physiological assay that uses standard ultrasound techniques to take two-dimensional pictures of the cardiovascular system and can produce accurate assessment of the velocity of blood and cardiac tissue at any arbitrary point using pulsed or continuous wave Doppler ultrasound." [] synonym: "Cardiac ECHO" EXACT [] synonym: "Cardiac US Scan" EXACT [] synonym: "Diagnostic Ultrasound of Heart" EXACT [] synonym: "Echocardiographic procedure" EXACT [] synonym: "Echocardiography" EXACT [] synonym: "Ultrasonic cardiography" EXACT [] synonym: "Ultrasonography of Heart" EXACT [] synonym: "Ultrasound of Heart" EXACT [] synonym: "US Scan of Heart" EXACT [] xref: ERO:0000385 is_a: NCIT:C17230 ! Ultrasound Test relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://purl.obolibrary.org/obo/ERO_0000385 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000409 xsd:string [Term] id: SCDO:0000410 name: Echocardiography Machine def: "A machine used for ultrasonic recording of the size, motion, and composition of the heart and surrounding tissues." [] is_a: SCDO:0000376 ! Diagnostic Device relationship: SCDO:0000474 SCDO:0000502 ! has output measurement Heart Valve Measurement property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology." xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D004452 xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000414 name: Education def: "Acquisition of knowledge as a result of instruction in a formal course of study." [] synonym: "Schooling" EXACT [] xref: MESH:D004493 is_a: NCIT:C17047 ! Quality of Life property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D004493 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000414 xsd:string [Term] id: SCDO:0000415 name: Electrocardiogram def: "The visual output that an electrocardiograph produces." [] synonym: "ECG" EXACT [] synonym: "EKG" EXACT [] xref: ERO:0000383 is_a: SCDO:1000313 ! Diagnostic Device Visual Output property_value: SCDO:0000303 "Suggest update to description in ERO?" xsd:string property_value: SCDO:0000340 http://en.wiktionary.org/wiki/electrocardiogram xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000416 name: Electrocardiographic Monitor def: "Device which makes prolonged electrocardiographic recordings on a portable tape recorder (Holter-type system) or solid-state device (real-time system), while the patient undergoes normal daily activities; useful in the diagnosis and management of intermittent cardiac arrhythmias and transient myocardial ischemia." [] synonym: "Ambulatory Electrocardiographic Monitor" EXACT [] synonym: "Electrocardiocorder" EXACT [] xref: CRISP:1393-7164 is_a: SCDO:0000376 ! Diagnostic Device relationship: SCDO:1000191 NCIT:C123446 ! used by diagnostic tool Continuous Ambulatory ECG property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/CRISP/?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1393-7164 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000416 xsd:string [Term] id: SCDO:0000417 name: Electrocardiography def: "Recording of the moment-to-moment electromotive forces of the heart as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a cathode ray tube display." [] xref: MESH:D004562 is_a: SCDO:0000500 ! Heart Function Test relationship: SCDO:1000192 SCDO:0000183 ! uses diagnostic device Cardioscope relationship: SCDO:1000192 SCDO:0001295 ! uses diagnostic device Electrocardiograph property_value: SCDO:0000303 "Request that MESH removes ECG, EKG and Elecrocardiogram as synonyms." xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D004562 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000417 xsd:string [Term] id: SCDO:0000418 name: Electroencephalogram def: "A graphic record of the electrical activity of the brain as recorded by an electroencephalograph." [] is_a: SCDO:1000313 ! Diagnostic Device Visual Output property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://medical-dictionary.thefreedictionary.com/electroencephalogram xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000419 name: Electroencephalograph def: "An instrument that measures electrical potentials on the scalp and generates a record of the electrical activity of the brain." [] synonym: "Encephalograph" EXACT [] is_a: SCDO:0000376 ! Diagnostic Device relationship: SCDO:1000191 SCDO:0000420 ! used by diagnostic tool Electroencephalography property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://medical-dictionary.thefreedictionary.com/electroencephalograph xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000420 name: Electroencephalography def: "Recording of electric currents developed in the brain by means of electrodes applied to the scalp, to the surface of the brain, or placed within the substance of the brain." [] synonym: "EEG" EXACT [] xref: MESH:D004569 is_a: SCDO:0000208 ! Cerebral Function Assay relationship: SCDO:1000192 SCDO:0000419 ! uses diagnostic device Electroencephalograph relationship: SCDO:1000194 SCDO:0000161 ! measures Brain Electrical Activity property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D004569 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000420 xsd:string [Term] id: SCDO:0000423 name: Electronic Health Records def: "Media that facilitate transportability of pertinent information concerning patient's illness across varied providers and geographic locations. Some versions include direct linkages to online consumer health information that is relevant to the health conditions and treatments related to a specific patient." [] synonym: "Computerized Health Records" EXACT [] synonym: "Computerized Medical Records" EXACT [] synonym: "Electronic Health Record" EXACT [] synonym: "Electronic Medical Record" EXACT [] synonym: "Electronic Medical Records" EXACT [] xref: MESH:D057286 is_a: SCDO:0000492 ! Health Records property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D057286 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000423 xsd:string [Term] id: SCDO:0000424 name: Electrophoresis def: "An electrochemical process in which macromolecules or colloidal particles with a net electric charge migrate in a solution under the influence of an electric current." [] xref: MESH:D004586 is_a: SCDO:0000216 ! Chemical Assay property_value: http://purl.org/dc/elements/1.1/source http://labtestsonline.org/understanding/analytes/hemoglobin-var/tab/test/ property_value: SCDO:0000303 "Perhaps change label to \"Hemoglobin Electrophoresis\"? Exactsynonym \"Hb ELP\". See dc:source provided." xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D004586 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000424 xsd:string [Term] id: SCDO:0000431 name: deprecated Endocrine and Metabolic def: "The system pertaining to the stomach, intestines, and associated organs including liver, gallbladder, and pancreas." [] synonym: "Gastroenterology" EXACT [] is_a: SCDO:0001336 ! from phenotype property_value: SCDO:0000340 http://medical-dictionary.thefreedictionary.com/gastroenterology xsd:string is_obsolete: true replaced_by: SCDO:0002674 replaced_by: SCDO:0002780 [Term] id: SCDO:0000435 name: Environmental Disease Modifier def: "An environmental factor that modifies one or more aspects of sickle cell disease (SCD) (such as temporal pattern, age of onset and mortality) for specific phenotype(s) in the Phenotype class." [] is_a: SCDO:0000391 ! Disease Modifier property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology\n\nPerhaps include MESH term \"Life Change Events\" as a main sub-class, with \"Disaster\" (under Physical Environment) copied below it?" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000436 name: Enzymatic Assay def: "A method used to measure the relative activity of a specific enzyme or its concentration in solution. Typically an enzyme substrate is added to a buffer solution containing enzyme and the rate of conversion of substrate to product is measured under controlled conditions. Many classical enzymatic assay methods involve the use of synthetic colorimetric substrates and measuring the reaction rates using a spectrophotometer." [] synonym: "Enzyme Assay" EXACT [] xref: MESH:D057075 is_a: SCDO:0000120 ! Biochemical Assay property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D057075 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000436 xsd:string [Term] id: SCDO:0000437 name: Epidemiologic Studies def: "Studies designed to examine associations, commonly, hypothesized causal relations. They are usually concerned with identifying or measuring the effects of risk factors or exposures. The common types of analytic study are case-control studies; cohort studies; and cross-sectional studies." [] synonym: "Epidemiological Studies" EXACT [] xref: MESH:D016021 is_a: SCDO:0006339 ! Research property_value: SCDO:0000303 "Term to be adapted as necessary to match EDDA Study Designs Taxonomy" xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D016021 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000437 xsd:string [Term] id: SCDO:0000438 name: deprecated Epidemiologic Study Characteristics as Topic def: "Types and formulations of studies used in epidemiological and clinical research." [] synonym: "Epidemiologic Study Characteristics" EXACT [] xref: MESH:D016020 is_a: SCDO:0000990 ! obsolete Research Activity property_value: SCDO:0000303 "Term to be adapted as necessary to match EDDA Study Designs Taxonomy" xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D016020 xsd:string is_obsolete: true [Term] id: SCDO:0000440 name: Epilepsy Screener def: "A questionnaire to assess epilepsy, a condition characterized by recurrent seizures and which is a component of over 40 neurological disorders (Aminoff, et al., 2005)." [] xref: phenX:130401 is_a: NCIT:C91105 ! Clinical or Research Assessment Questionnaire is_a: SCDO:1000033 ! Diagnostic Instrument property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/130401 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000440 xsd:string [Term] id: SCDO:0000441 name: General Health Questionnaire (GHQ) def: "The GHQ is a screening device for identifying minor psychiatric disorders in the general population and within community or non-psychiatric clinical settings such as primary care or general medical outpatients. Suitable for all ages from adolescent upwards (not children), it assesses the respondent's current state and asks if that differs from his or her usual state. It is therefore sensitive to short-term psychiatric disorders but not to long-standing attributes of the respondent. The self-administered questionnaire focuses on two major areas: inability to carry out normal functions; appearance of new and distressing phenomena. It is available in the following versions: GHQ-60 -- the fully detailed 60-item questionnaire; GHQ-30 -- a short form without items relating to physical illness; GHQ-28 -- a 28 item scaled version -- assesses somatic symptoms, anxiety and insomnia, social dysfunction and severe depression; GHQ-12 -- quick, reliable and sensitive short form, ideal for research studies." [] synonym: "GHQ" EXACT [] is_a: SCDO:0000953 ! Quality of Life Measure property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Add the different versions of this questionnaire, as listed in the description here." xsd:string property_value: SCDO:0000303 "Request inclusion into NCIT below \"Research or Clinical Assessment Tool\"." xsd:string property_value: SCDO:0000340 "Goldberg, David; Hillier, Valerie (1979). \"A scaled version of the General Health Questionnaire\". Psychological Medicine. Cambridge University Press. 9 (01): 139–145." xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000442 name: Generalised Anxiety Disorder Questionnaire (GAD-7) def: "The GAD-7 is a self-administered patient questionnaire used as a screening tool and severity measure for generalised anxiety disorder. The GAD-7 score is calculated by assigning scores of 0, 1, 2, and 3, to the response categories of 'not at all', 'several days', 'more than half the days', and 'nearly every day', respectively, and adding together the scores for the seven questions. Scores of 5, 10, and 15 are taken as the cut-off points for mild, moderate and severe anxiety, respectively. When used as a screening tool, further evaluation is recommended when the score is 10 or greater." [] synonym: "GAD-7" EXACT [] synonym: "Generalised Anxiety Disorder Questionnaire" EXACT [] xref: NCIT:C88893 is_a: SCDO:0000953 ! Quality of Life Measure is_a: SCDO:1000297 ! Quality of Life and Care Diagnostic Instrument property_value: SCDO:0000340 "Spitzer RL, Kroenke K, Williams JB, et al; A brief measure for assessing generalized anxiety disorder: the GAD-7. Archives of Internal Medicine. 2006;166(10):1092-7." xsd:string property_value: SCDO:1000288 "Few but definitions not specific enough" xsd:string [Term] id: SCDO:0000443 name: Genetic Counseling def: "An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered." [] synonym: "Prenatal Genetic Counseling" EXACT [] xref: MESH:D005817 is_a: SCDO:0000447 ! Genetic Service relationship: SCDO:1000018 SCDO:0000032 ! treats Agenesis of Corpus Callosum property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D005817 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000443 xsd:string [Term] id: SCDO:0000444 name: Genetic Disease Modifier def: "A biological disease modifier that is of a genetic nature." [] is_a: SCDO:0000122 ! Biological Disease Modifier relationship: SCDO:1000015 OGMS:0000047 ! modifies Genetic Disorder property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000447 name: Genetic Service def: "Organized services to provide diagnosis, treatment, and prevention of genetic disorders." [] synonym: "Genetic Services" EXACT [] xref: MESH:D033142 is_a: SCDO:0000922 ! Preventative Therapeutics property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D033142 xsd:string property_value: SCDO:1000288 "Sufficiient" xsd:string [Term] id: SCDO:0000448 name: Genetic Technique def: "Chromosomal, biochemical, intracellular, and other methods used in the study of genetics." [] synonym: "Genetic Technic" EXACT [] synonym: "Genetic Technics" EXACT [] synonym: "Genetic Techniques" EXACT [] xref: MESH:D005821 is_a: SCDO:0000082 ! Diagnostic Technique, Method, Test or Assay property_value: SCDO:0000303 "This and its sub-classes need work!" xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D005821 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000448 xsd:string [Term] id: SCDO:0000454 name: Glaucoma (Secondary to Presence of Blood in the Anterior Chamber of the Eye) def: "Elevated ocular pressure caused by clogging of the trabecular meshwork and by impaired aqueous humor outflow from blood in the anterior chamber (due to ocular trauma or surgery)." [] synonym: "Glaucomas" EXACT [] is_a: HP:0000478 ! Abnormality of the Eye is_a: NCIT:C115319 ! Ophthalmologic Complication relationship: SCDO:0000663 NCIT:C101217 ! diagnosed using tool Retinal Examination relationship: SCDO:0000663 NCIT:C18772 ! diagnosed using tool Personal Medical History relationship: SCDO:0000663 SCDO:0000898 ! diagnosed using tool Physical Examination relationship: SCDO:0000664 SCDO:1000017 ! treated with Surgery property_value: SCDO:0000303 "Request inclusion into relevant ontology as more specific type (sub-class) of glaucoma." xsd:string property_value: SCDO:0000340 "Ballas et al 2010 Am J Hematol" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000455 name: Global Mental Status Screener def: "A test to assess the respondent's overall mental capability." [] xref: phenX:130700 is_a: NCIT:C91105 ! Clinical or Research Assessment Questionnaire is_a: SCDO:1000033 ! Diagnostic Instrument property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/PHENX?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FphenX%2F130700 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000455 xsd:string [Term] id: SCDO:0000456 name: Globin Locus def: "A genetic locus responsible for the encoding of globins." [] is_a: SCDO:1000103 ! Genetic Locus property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology, perhaps below \"Genetic Locus\" in MESH." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000457 name: Glomerular Filtration Rate def: "Measurement of the flow rate of filtered fluid through the kidney, calculated either by comparative measurements of substances in the blood and urine, or estimated from a blood test." [] synonym: "GFR" EXACT [] xref: EFO:0005208 is_a: CMO:0000023 ! Blood Chemistry Measurement relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://www.ebi.ac.uk/efo/EFO_0005208 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000457 xsd:string [Term] id: SCDO:0000462 name: G6PD def: "This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of G6PD, mostly produced from missense mutations, have been described with wide ranging levels of enzyme activity and associated clinical symptoms. G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic hemolytic anemia. Two transcript variants encoding different isoforms have been found for this gene." [] synonym: "G-6-PD" EXACT [] synonym: "G6PD1" EXACT [] synonym: "Glucose-6-Phosphate 1-Dehydrogenase Gene" EXACT [] synonym: "Glucose-6-Phosphate Dehydrogenase Gene" EXACT [] is_a: SCDO:0000810 ! Non-Globin Gene property_value: SCDO:0000303 "Exists in other ontologies but we have provided a description more relevant to its relationship with SCD." xsd:string property_value: SCDO:0000340 http://www.ncbi.nlm.nih.gov/gene/2539 xsd:string property_value: SCDO:1000288 "Not relevant to context of sickle cell" xsd:string [Term] id: SCDO:0000465 name: Growth Delay def: "A deficiency or slowing down of growth pre- and postnatally greater than two standard deviations from the age- and sex-related normal." [] synonym: "Delayed Growth" EXACT [] synonym: "Growth Deficiency" EXACT [] synonym: "Growth Failure" EXACT [] synonym: "Growth Retardation" EXACT [] synonym: "Poor Growth" EXACT [] synonym: "Retarded Growth" EXACT [] xref: HP:0001510 is_a: HP:0001507 ! Growth Abnormality is_a: SCDO:0000954 ! Quality of Life Related SCD Symptoms and Complications relationship: SCDO:0000664 SCDO:0000262 ! treated with Cognitive Therapy relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000303 "Suggest update to description in HPO." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0001510 xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000466 name: Haptoglobin Blood Test def: "A bioassay to measure haptoglobin, which is produced by the liver and transports hemoglobin to the liver for recycling." [] xref: phenX:10801 is_a: SCDO:0000133 ! Blood Test relationship: SCDO:1000194 CMO:0002520 ! measures Serum Haptoglobin Level property_value: SCDO:0000303 "Suggest update to label in PhenX (from \"Haptoglobin Level\")." xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/810801 property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0000487 name: Health Behaviour def: "Individual lifestyle and behavior which may or may not enhance or maintain good health." [] synonym: "Health Behavior" EXACT [] xref: APAONTO:Health_Behavior is_a: SCDO:0000435 ! Environmental Disease Modifier property_value: SCDO:0000303 "Suggest the NCIT updates their description for this term to include negative /risk inreasing behaviour?\n\nInclude: \n-- gaining better control of your diabetes \n-- lowering cholesterol\n-- lowering blood pressure \n-- maintaining a healthy body weight \n-- eating a balanced diet \n\n-- Include these from MESH: \n-- Treatment Refusal \n-- Vaccination Refusal" xsd:string property_value: SCDO:0000340 APAONTO?p=classes&conceptid=http%3A%2F%2Fontology.apa.org%2Fapaonto%2FtermsonlyOUT%2520(5).owl%23Health:Behavior property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000487 xsd:string [Term] id: SCDO:0000488 name: Health Beliefs def: "People's beliefs about health problems, perceived benefits of action and barriers to action, and self-efficacy." [] comment: The health belief model suggests that health beliefs explain engagement (or lack of engagement) in health-promoting behaviour. is_a: SCDO:0000299 ! Culture property_value: http://purl.org/dc/elements/1.1/source "Health-Belief Model" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://en.wikipedia.org/wiki/Health_belief_model property_value: SCDO:0000340 https://en.wikipedia.org/wiki/Health_belief_model property_value: SCDO:1000288 "Not relevant to context of sickle cell" xsd:string [Term] id: SCDO:0000489 name: Health Financing def: "Health financing is concerned with how financial resources are generated, allocated and used in health systems. Health financing policy focuses on how to move closer to universal coverage with issues related to: (i) how and from where to raise sufficient funds for health; (ii) how to overcome financial barriers that exclude many poor from accessing health services; or (iii) how to provide an equitable and efficient mix of health services." [] synonym: "Health Care Resources" EXACT [] synonym: "Healthcare Resources" EXACT [] is_a: SCDO:0000494 ! Health System property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 https://multimedia.wpro.who.int/galleries/189/health-financing/35 property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000490 name: Health Insurance Coverage def: "Whether the respondent is covered by health insurance or some other form of health care coverage at the time of the interview." [] comment: Also applicable to a population not just to an individual. is_a: NCIT:C16495 ! Demographic Factor is_a: SCDO:0000496 ! Healthcare Access relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age property_value: SCDO:0000303 "Suggest inclusion into MESH.\n\nThe phenX term is actually referring to a protocol for collecting data on Health Insurance Coverage.\n\nThe protocol is somewhat U.S. specific. Should probably be modified to be more relevant to the African setting." xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/11502 property_value: SCDO:0000479 "PhenX protocol: Health Insurance Coverage #11502" xsd:string property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:0000491 name: Health Literacy def: "Degree to which individuals have the capacity to obtain, process and understand basic health information and services needed to make appropriate health decisions." [] synonym: "Genetic Counseling" NARROW [] synonym: "Knowledge about Sickle Cell Disease" EXACT [] xref: MESH:D057220 is_a: SCDO:0000286 ! Coping Skill property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D057220 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000491 xsd:string [Term] id: SCDO:0000492 name: Health Records def: "Health data accessible to the patient and others." [] synonym: "Health Records, Personal" EXACT [] synonym: "Personal Health Information" EXACT [] synonym: "Personal Health Record" EXACT [] synonym: "Personal Health Records" EXACT [] synonym: "Personal Medical Record" EXACT [] synonym: "Personal Medical Records" EXACT [] xref: MESH:D055991 is_a: SCDO:0000738 ! Medical Records property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D055991 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000492 xsd:string [Term] id: SCDO:0000493 name: Health Service Utilization def: "The measure of the population's use of the health care services available to them. This includes the utilization of hospital resources, Personal Care Home (PCH) resources, and physician resources. Health care utilization and health status are used to examine how efficiently a health care system produces health in a population." [] synonym: "Health Care Service Utilization" EXACT [] synonym: "Health Care Utitlization" EXACT [] synonym: "Healthcare Utitlization" EXACT [] is_a: SCDO:0000948 ! Quality of Health Care property_value: http://purl.org/dc/elements/1.1/source http://mchp-appserv.cpe.umanitoba.ca/viewDefinition.php?definitionID=102752 property_value: SCDO:0000340 http://mchp-appserv.cpe.umanitoba.ca/viewDefinition.php?definitionID=102752 property_value: SCDO:1000288 "Few but definitions not specific enough" xsd:string [Term] id: SCDO:0000494 name: Health System def: "A system responsible for delivering services that improve, maintain or restore the health of individuals and their communities. This includes the care provided by hospitals and family doctors, but also less visible tasks such as the prevention and control of communicable disease, health promotion, health workforce planning and improving the social, economic or environmental conditions in which people live." [] synonym: "Health Care Delivery" EXACT [] synonym: "Health Care System" EXACT [] synonym: "Health Care Systems" EXACT [] is_a: SCDO:0000948 ! Quality of Health Care property_value: SCDO:0000303 "Suggest update to description in Medline Plus Health Topics" xsd:string property_value: SCDO:0000340 http://www.euro.who.int/en/health-topics/Health-systems/pages/health-systems xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000495 name: Health Utility def: "Utility measures of health related quality of life are preference values that patients attach to their overall health status. In clinical trials, utility measures summarize both positive and negative effects of an intervention into one value between 0 (equal to death) and 1 (equal to perfect health). These measures allow for comparison of patient outcomes of different diseases, and for comparison between various health care interventions. There are 2 different approaches to utility measurement." [] synonym: "Health Utility Index" EXACT [] synonym: "Health Utility Measure" EXACT [] is_a: SCDO:0000948 ! Quality of Health Care property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://www.ncbi.nlm.nih.gov/pubmed/7674256 xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000496 name: Healthcare Access def: "The ease with which an individual can obtain needed medical services." [] comment: The WHO Constitution envisages "...the highest attainable standard of health as a fundamental right of every human being." The right to health includes access to timely, acceptable, and affordable health care of appropriate quality. synonym: "Access to Healthcare" EXACT [] synonym: "Health Care Access" EXACT [] is_a: SCDO:0000948 ! Quality of Health Care property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: http://purl.org/dc/elements/1.1/source http://www.rand.org/topics/health-care-access.html property_value: http://purl.org/dc/elements/1.1/source http://www.who.int/mediacentre/factsheets/fs323/en/ property_value: SCDO:0000303 "Additional WG note:\norganization of health system [insurance]; electronic (portable) health records; special issues related to pain and pain medications; levels of care (primary, secondary, tertiary) (Location – [rural/urban; mobile units]; hours; affordability; timeliness). Availability of personnel. Equipment treatments other resources" xsd:string property_value: SCDO:0000340 https://www.rand.org/topics/health-care-access.html property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:0000497 name: Healthy Diet def: "Dietary patterns which have been found to be important in reducing disease risk." [] synonym: "Healthy Eating" EXACT [] xref: MESH:D000072001 is_a: NCIT:C15900 ! Lifestyle Therapy is_a: SCDO:0000487 ! Health Behaviour relationship: SCDO:1000018 HP:0000819 ! treats Diabetes Mellitus relationship: SCDO:1000018 HP:0000855 ! treats Insulin Resistance relationship: SCDO:1000018 HP:0000938 ! treats Osteopenia relationship: SCDO:1000018 HP:0001513 ! treats Obesity relationship: SCDO:1000018 HP:0002076 ! treats Migraine relationship: SCDO:1000018 HP:0002138 ! treats Subarachnoid Hemorrhage relationship: SCDO:1000018 HP:0003611 ! treats Dyslipidemia relationship: SCDO:1000018 SCDO:0001168 ! treats Transient Monocular Blindness property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D000072001 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000497 xsd:string [Term] id: SCDO:0000498 name: Healthy Lifestyle def: "A pattern of behavior involving lifestyle choices which ensure optimum health. Examples are eating right; maintaining physical, emotional, and spiritual wellness, and taking preemptive steps against communicable diseases." [] synonym: "Healthy Life Style" EXACT [] xref: MESH:D000070497 is_a: SCDO:0000689 ! Lifestyle relationship: SCDO:1000018 HP:0000855 ! treats Insulin Resistance relationship: SCDO:1000018 HP:0000938 ! treats Osteopenia relationship: SCDO:1000018 HP:0002870 ! treats Obstructive Sleep Apnea relationship: SCDO:1000018 HP:0003611 ! treats Dyslipidemia relationship: SCDO:1000018 SCDO:0001168 ! treats Transient Monocular Blindness property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D000070497 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000498 xsd:string [Term] id: SCDO:0000500 name: Heart Function Test def: "Examinations used to diagnose and treat heart conditions." [] synonym: "Heart Function Tests" EXACT [] synonym: "Pulmonary Function Test" EXACT [] xref: MESH:D006334 is_a: SCDO:0000902 ! Physiological Assay property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D006334 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000500 xsd:string [Term] id: SCDO:0000501 name: Heart Rate def: "The number of times the heart ventricles contract per unit of time, usually per minute." [] synonym: "Heart Beat" EXACT [] synonym: "Pulse" EXACT [] synonym: "Pulse Rate" EXACT [] xref: EFO:0004326 is_a: SCDO:1000317 ! Heart Measurement relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://www.ebi.ac.uk/efo/EFO_0004326 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000501 xsd:string [Term] id: SCDO:0000502 name: Heart Valve Measurement def: "Any value resulting from the quantification of a morphological or physiological parameter pertaining to the heart valves." [] is_a: SCDO:1000317 ! Heart Measurement relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:1000190 SCDO:0000409 ! obtained via diagnostic tool Echocardiogram relationship: SCDO:1000193 SCDO:0000410 ! output of diagnostic device Echocardiography Machine property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology. Perhaps below \"Heart Measurement\" in the CMO. \n\nCan add sub-classes as per the measurements given in the Diagnostic Criteria below the Protocol section in PhenX for \"Heart Valve Function\".\n\nSub-classes that are also morphological measurements can be included below \"Body Morphological Measurement\"" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000504 name: Hematology Analyzer def: "A measurement device used to perform complete blood counts, erythrocyte sedimentation rates (ESRs), or coagulation tests." [] synonym: "Haematology Analyser" EXACT [] xref: ERO:0000494 is_a: SCDO:0000376 ! Diagnostic Device relationship: SCDO:0000474 CMO:0000025 ! has output measurement Red Blood Cell Count relationship: SCDO:0000474 CMO:0000027 ! has output measurement White Blood Cell Count relationship: SCDO:0000474 CMO:0000029 ! has output measurement Platelet Count property_value: SCDO:0000340 http://purl.obolibrary.org/obo/ERO_0000494 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000504 xsd:string [Term] id: SCDO:0000505 name: Hematology Screening Test def: "A test to detect potential blood disorders or diseases in people who do not have any symptoms of disease." [] synonym: "Haematology Screening Test" EXACT [] is_a: SCDO:0000133 ! Blood Test property_value: SCDO:0000303 "Request inclusion into relevant ontology." xsd:string property_value: SCDO:0000340 https://www.hopkinsmedicine.org/healthlibrary/conditions/pathology/screening_tests_for_common_diseases_85,P00965 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000506 name: Hematopoietic Stem Cell Transplantation def: "Transfer of hematopoietic stem cells from bone marrow or blood between individuals within the same species (transplantation, homologous) or transfer within the same individual (transplantation, autologous). Hematopoietic stem cell transplantation has been used as an alternative to bone marrow transplantation in the treatment of a variety of neoplasms." [] synonym: "BMT" EXACT [] synonym: "Bone Marrow Transplant" EXACT [] synonym: "Hematopoietic SCT" EXACT [] xref: MESH:D018380 is_a: SCDO:0000301 ! Curative Therapeutics relationship: SCDO:1000018 DOID:1584 ! treats Acute Chest Syndrome relationship: SCDO:1000018 EUPATH:0000215 ! treats Severe Anemia relationship: SCDO:1000018 HP:0002665 ! treats Lymphoma relationship: SCDO:1000018 NCIT:C155310 ! treats Sickle Cell Disease-SD relationship: SCDO:1000018 NCIT:C98835 ! treats Sickle Cell Disease-S Beta Zero Thalassemia relationship: SCDO:1000018 SCDO:0000518 ! treats Hemoglobin Barts Hydrops Fetalis relationship: SCDO:1000018 SCDO:0000519 ! treats Hemoglobin C Disease relationship: SCDO:1000018 SCDO:1000077 ! treats Moderate Sickle Cell Disease-S Beta Minus Thalassemia relationship: SCDO:1000018 SCDO:1000078 ! treats Severe Sickle Cell Disease-S Beta Minus Thalassemia relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D018380 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000506 xsd:string [Term] id: SCDO:0000507 name: deprecated Hematopoietic System def: "The blood-making organs and tissues, principally the bone marrow and lymph nodes." [] xref: MESH:D006413 is_a: SCDO:0000511 ! obsolete Hemic and Immune Systems property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D006413 xsd:string is_obsolete: true replaced_by: SCDO:1000264 [Term] id: SCDO:0000508 name: Hematuria def: "Presence of blood in the urine." [] synonym: "Blood in Urine" EXACT [] synonym: "Hematurias" EXACT [] xref: MESH:D006417 is_a: HP:0000077 ! Abnormality of the Kidney relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D006417 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000508 xsd:string [Term] id: SCDO:0000510 name: HMOX1 def: "This gene encodes the enzyme, heme oxygenase 1, an essential enzyme in heme catabolism and cellular homeostasis." [] synonym: "Heat Shock Protein, 32-kD Gene" EXACT [] synonym: "Heme Oxygenase (Decycling) 1 Gene" EXACT [] synonym: "Heme Oxygenase 1 gene" EXACT [] synonym: "Hemeoxygenase 1 Gene" EXACT [] synonym: "Hemoxygenase-1 Gene" EXACT [] synonym: "HMOX1 Gene" EXACT [] synonym: "HO-1" EXACT [] synonym: "HO1 Gene" EXACT [] is_a: SCDO:0000810 ! Non-Globin Gene property_value: SCDO:0000303 "Suggest update to description in NCIT (for \"HMOX1 Gene\")" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C43314 property_value: SCDO:0000340 http://www.ncbi.nlm.nih.gov/gene/3162 xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000511 name: obsolete Hemic and Immune Systems def: "Organs involved in the production of BLOOD, including the cellular and the molecular components essential in providing defense against foreign organisms or substances." [] is_a: SCDO:0001336 ! from phenotype is_obsolete: true [Term] id: SCDO:0000513 name: Hemoglobin C def: "A commonly occurring abnormal hemoglobin in which lysine replaces a glutamic acid residue at the sixth position of the beta chains. It results in reduced plasticity of erythrocytes." [] synonym: "Hb C" EXACT [] synonym: "HbC" EXACT [] synonym: "HbC Hemoglobin" EXACT [] xref: MESH:D006444 is_a: SCDO:0000007 ! Abnormal Hemoglobin in SCD is_a: SCDO:0003807 ! Abnormal Hemoglobin relationship: SCDO:1000210 SCDO:1000041 ! has causal or contributing genetic variation HBB, GLU6LYS property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D006444 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000513 xsd:string [Term] id: SCDO:0000514 name: Hemoglobin S def: "An abnormal hemoglobin resulting from the substitution of valine for glutamic acid at position 6 of the beta chain of the globin moiety. The heterozygous state results in sickle cell trait, the homozygous in sickle cell anemia." [] synonym: "Haemoglobin S" EXACT [] synonym: "Hb S" EXACT [] synonym: "HbS" EXACT [] synonym: "HbS Haemoglobin" EXACT [] synonym: "HbS Hemoglobin" EXACT [] synonym: "Sickle Haemoglobin" EXACT [] synonym: "Sickle Hemoglobin" EXACT [] xref: MESH:D006451 is_a: SCDO:0000007 ! Abnormal Hemoglobin in SCD is_a: SCDO:0003807 ! Abnormal Hemoglobin relationship: SCDO:1000210 SCDO:1000039 ! has causal or contributing genetic variation HBB, GLU6VAL property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D006451 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000514 xsd:string [Term] id: SCDO:0000515 name: Hemoglobin H def: "An abnormal hemoglobin composed of four beta chains. It is caused by the reduced synthesis of the alpha chain. This abnormality results in alpha-thalassemia." [] synonym: "Hb H" EXACT [] synonym: "HbH" EXACT [] synonym: "HbH Hemoglobin" EXACT [] xref: MESH:D006447 is_a: SCDO:0003807 ! Abnormal Hemoglobin relationship: SCDO:1000210 SCDO:0001386 ! has causal or contributing genetic variation Alpha-Globin Locus Deletion property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D006447 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000515 xsd:string [Term] id: SCDO:0000516 name: deprecated Hemoglobin A2 Profile is_a: SCDO:0000359 ! deprecated terms property_value: SCDO:1000288 "None" xsd:string is_obsolete: true replaced_by: SCDO:1000698 [Term] id: SCDO:0000517 name: Hemoglobin Barts def: "An abnormal hemoglobin, composed of four gamma globin chains, causing it to have an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues." [] synonym: "Haemoglobin Bart's" EXACT [] synonym: "Haemoglobin Barts" EXACT [] synonym: "Hb Bart's" EXACT [] synonym: "Hb Barts" EXACT [] synonym: "Hemoglobin Bart's" EXACT [] xref: HP:0005507 is_a: SCDO:0003807 ! Abnormal Hemoglobin relationship: SCDO:1000210 SCDO:0001387 ! has causal or contributing genetic variation Homozygous Deletion of HBA1 and HBA2 property_value: SCDO:0000303 "Additional info from the definition in HPO: \"Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues.\"" xsd:string property_value: SCDO:0000303 "Suggest update to description in HP as we have done." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0005507 xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000518 name: Hemoglobin Barts Hydrops Fetalis def: "The most severe form of alpha-thalassemia and is almost always lethal, and characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia. It is caused by the presence of Hemoglobin Barts, a hemoglobin with four gamma chains, which has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues" [] synonym: "Alpha-Thalassemia Hydrops Fetalis" EXACT [] synonym: "Alpha-Thalassemia Major" EXACT [] synonym: "Haemoglobin Barts Hydrops Fetalis" EXACT [] synonym: "Hb Barts" EXACT [] synonym: "Hb Barts Syndrome" EXACT [] synonym: "Hemoglobin Bart's Hydrops Fetalis" EXACT [] synonym: "Hemoglobin Barts Hydrops Fetalis Syndrome" EXACT [] synonym: "Homozygous Alpha 0-Thalassemia" EXACT [] xref: Orphanet:163596 is_a: SCDO:0000042 ! Alpha Thalassemia relationship: SCDO:0000663 SCDO:0000424 ! diagnosed using tool Electrophoresis relationship: SCDO:0000663 SCDO:0003894 ! diagnosed using tool Gap PCR relationship: SCDO:0000663 SCDO:0006589 ! diagnosed using tool Cordocentesis relationship: SCDO:0000664 NCIT:C15238 ! treated with Gene Therapy relationship: SCDO:0000664 SCDO:0000506 ! treated with Hematopoietic Stem Cell Transplantation relationship: SCDO:0000664 SCDO:0008888 ! treated with Iron Chelation Therapy relationship: SCDO:0001364 HP:0000007 ! has mode of inheritance Autosomal Recessive relationship: SCDO:1000172 SCDO:0001387 ! has causal genotype Homozygous Deletion of HBA1 and HBA2 relationship: SCDO:1000210 SCDO:0001387 ! has causal or contributing genetic variation Homozygous Deletion of HBA1 and HBA2 relationship: SCDO:1000223 SCDO:1000241 ! has causal molecular phenotype Absent Hemoglobin A property_value: SCDO:0000303 "Suggest update to description in ORDO as we have done." xsd:string property_value: SCDO:0000340 http://www.orpha.net/ORDO/Orphanet_163596 xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000519 name: Hemoglobin C Disease def: "An autosomal recessive disorder resulting from the production of hemoglobin C, secondary to an amino acid substitution of lysine for glutamic acid in the sixth position of the beta chain (E6K), and characterized by mild hemolytic anemia and occasionally jaundice, though most patients are asymptomatic." [] synonym: "Haemoglobin C Disease" EXACT [] synonym: "Hb C-Disease" EXACT [] xref: NCIT:C34675 is_a: SCDO:0008262 ! Structural Hemoglobinopathy relationship: SCDO:0000663 CHMO:0001009 ! diagnosed using tool High-Performance Liquid Chromatography relationship: SCDO:0000663 CMO:0000364 ! diagnosed using tool Complete Blood Count relationship: SCDO:0000663 NCIT:C79903 ! diagnosed using tool Blood Smear relationship: SCDO:0000663 SCDO:0000424 ! diagnosed using tool Electrophoresis relationship: SCDO:0000664 SCDO:0000147 ! treated with Blood Transfusion relationship: SCDO:0000664 SCDO:0000506 ! treated with Hematopoietic Stem Cell Transplantation relationship: SCDO:0000664 SCDO:0000580 ! treated with Hydroxyurea relationship: SCDO:0000664 SCDO:0001329 ! treated with Folic Acid relationship: SCDO:0001364 SCDO:1000242 ! has mode of inheritance Autosomal Recessive Homozygous relationship: SCDO:1000172 SCDO:1000232 ! has causal genotype Hemoglobin Genotype CC relationship: SCDO:1000210 SCDO:1000041 ! has causal or contributing genetic variation HBB, GLU6LYS relationship: SCDO:1000218 HP:0001744 ! has manifestation Splenomegaly relationship: SCDO:1000218 HP:0001878 ! has manifestation Hemolytic Anemia relationship: SCDO:1000223 SCDO:0000513 ! has causal molecular phenotype Hemoglobin C property_value: SCDO:0000303 "Suggest update to description in NCIT" xsd:string property_value: SCDO:0000340 http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/Hb-F-C xsd:string property_value: SCDO:0000340 NCIT:C34675 property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000520 name: Hemoglobin C Trait def: "The inheritance of the gene for hemoglobin C from one parent and a gene for normal adult hemoglobin (hemoglobin A) from the other parent." [] synonym: "Haemoglobin C-A Disorder" EXACT [] synonym: "Hb AC" EXACT [] synonym: "Hemoglobin C-A Disorder" EXACT [] synonym: "Heterozygous for Hb C" EXACT [] is_a: NCIT:C95534 ! Hemoglobin Trait relationship: SCDO:1000172 SCDO:1000225 ! has causal genotype Hemoglobin Genotype AC relationship: SCDO:1000210 SCDO:1000041 ! has causal or contributing genetic variation HBB, GLU6LYS relationship: SCDO:1000218 NCIT:C3833 ! has manifestation Asymptomatic property_value: http://purl.org/dc/elements/1.1/source http://www.sickle-thal.nwlh.nhs.uk/blood/haemoglobinc.aspx property_value: SCDO:0000303 "Request inclusion into NCIT below \"Hemoglobin Trait\"." xsd:string property_value: SCDO:0000340 http://www.sickle-thal.nwlh.nhs.uk/blood/haemoglobinc.aspx xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000521 name: deprecated Hemoglobin C-Beta Thalassemia def: "'A form of beta-thalassemia with a phenotype of mild to moderate hemolytic anemia. Patients are often asymptomatic but if present symptoms include anemia and enlarged spleen.'" [] synonym: "Hb C-Beta Thalassemia Syndrome" EXACT [] synonym: "Hemoglobin C Beta-Thalassemia" EXACT [] is_a: SCDO:0000272 ! obsolete Compound Heterozygous Hemoglobinopathy property_value: SCDO:0000303 "The description could be more detailed." xsd:string property_value: SCDO:0000340 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=231242 xsd:string is_obsolete: true [Term] id: SCDO:0000522 name: Hemoglobin Variant Test def: "A test to measure the presence and amount of a variant of hemoglobin in the blood." [] synonym: "Haemoglobin Variant Observation" EXACT [] synonym: "Haemoglobin Variant Test" EXACT [] synonym: "Haemoglobinopathy Screen" EXACT [] synonym: "Hemoglobin Variant Measurement" EXACT [] synonym: "Hemoglobin Variant Observation" EXACT [] synonym: "Hemoglobinopathy Screen" EXACT [] xref: NCIT:C103845 is_a: SCDO:0000133 ! Blood Test property_value: SCDO:0000303 "Many terms below \"Hemoglobin Variant Test\" in SNOMED CT could be added." xsd:string property_value: SCDO:0000303 "Suggest update to label and description in NCIT (from \"Hemoglobin Variant Measurement\" and \"A test to measure the variants of hemoglobin.\")\nIt is not clear whether this term was is in fact a synonym of \"Hemoglobin Profile Assay\". We assumed it wasn't. If it actually is, we need to address the ambiguity caused." xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C103845 xsd:string property_value: SCDO:1000288 "Suggest update to label and description" xsd:string [Term] id: SCDO:0000524 name: Hemoglobin D Disease def: "An autosomal recessive hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia)." [] synonym: "Hb DD" EXACT [] synonym: "Homozygous Hemoglobin D" EXACT [] xref: DOID:5378 is_a: SCDO:0008262 ! Structural Hemoglobinopathy relationship: SCDO:0001364 HP:0000007 ! has mode of inheritance Autosomal Recessive relationship: SCDO:1000172 SCDO:1000230 ! has causal genotype Hemoglobin Genotype DD relationship: SCDO:1000210 SCDO:1000108 ! has causal or contributing genetic variation HBB, SER9TYR relationship: SCDO:1000210 SCDO:1000109 ! has causal or contributing genetic variation HBB, GLU121GLN relationship: SCDO:1000210 SCDO:1000110 ! has causal or contributing genetic variation HBB, GLY16ARG relationship: SCDO:1000210 SCDO:1000111 ! has causal or contributing genetic variation HBB, ASN19LYS relationship: SCDO:1000210 SCDO:1000112 ! has causal or contributing genetic variation HBB, GLU22GLN relationship: SCDO:1000210 SCDO:1000113 ! has causal or contributing genetic variation HBB, GLU22VAL relationship: SCDO:1000210 SCDO:1000114 ! has causal or contributing genetic variation HBB, THR87LYS relationship: SCDO:1000210 SCDO:1000115 ! has causal or contributing genetic variation HBB, GLU121ALA relationship: SCDO:1000223 SCDO:1000007 ! has causal molecular phenotype Hemoglobin D property_value: SCDO:0000303 "Suggest update to description in ORDO" xsd:string property_value: SCDO:0000340 http://www.doh.wa.gov/Portals/1/Documents/5220/HbDFactSheet.pdf xsd:string property_value: SCDO:0000340 Orphanet:90039 property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000525 name: Hemoglobin D Trait def: "The inheritance of the gene for hemoglobin D from one parent and a gene for normal adult hemoglobin (hemoglobin A) from the other parent." [] synonym: "Hb AD" EXACT [] is_a: NCIT:C95534 ! Hemoglobin Trait relationship: SCDO:1000172 SCDO:1000226 ! has causal genotype Hemoglobin Genotype AD relationship: SCDO:1000210 SCDO:1000108 ! has causal or contributing genetic variation HBB, SER9TYR relationship: SCDO:1000210 SCDO:1000109 ! has causal or contributing genetic variation HBB, GLU121GLN relationship: SCDO:1000210 SCDO:1000110 ! has causal or contributing genetic variation HBB, GLY16ARG relationship: SCDO:1000210 SCDO:1000111 ! has causal or contributing genetic variation HBB, ASN19LYS relationship: SCDO:1000210 SCDO:1000112 ! has causal or contributing genetic variation HBB, GLU22GLN relationship: SCDO:1000210 SCDO:1000113 ! has causal or contributing genetic variation HBB, GLU22VAL relationship: SCDO:1000210 SCDO:1000114 ! has causal or contributing genetic variation HBB, THR87LYS relationship: SCDO:1000210 SCDO:1000115 ! has causal or contributing genetic variation HBB, GLU121ALA property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into NCIT below \"Hemoglobin Trait\"." xsd:string property_value: SCDO:0000340 http://www.doh.wa.gov/Portals/1/Documents/5220/HbDFactSheet.pdf xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000526 name: deprecated Hemoglobin D-Beta Thalassemia def: "'Hemoglobin D/xcexb2xc2xb0 thalassemia is a form of beta-thalassemia which results in a mild to moderate clinical picture. The severity of the condition depends on the degree of thalassemia and how it affects production of Hemoglobin A, however this condition is often considered fairly benign.'" [] synonym: "HbD - BT" EXACT [] synonym: "Hemoglobin D Beta-Thalassemia" EXACT [] is_a: SCDO:0000272 ! obsolete Compound Heterozygous Hemoglobinopathy property_value: SCDO:0000340 http://www.doh.wa.gov/Portals/1/Documents/5220/HbDFactSheet.pdf xsd:string is_obsolete: true [Term] id: SCDO:0000527 name: Hemoglobin D-Ibadan def: "An unusual hemoglobin that shows all the electrophoretic features of Hb D, but has no inherited disability. This hemoglobin has a beta 87 Thr > Lys mutation." [] synonym: "Hemoglobin D (badan)" EXACT [] is_a: SCDO:1000259 ! Unusual Hemoglobin property_value: SCDO:0000303 "Request inclusion into NCIT below \"Hemoglobin\"/\"Hemoglobin Variant\"/\"Unusual Hemoglobin\"." xsd:string property_value: SCDO:0000340 "0062" property_value: SCDO:0000340 http://dx.doi.org/10.1038/2051273a0 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000528 name: Hemoglobin D-Punjab def: "An abnormal hemoglobin (one of the types of hemoglobin D) in which glutamine replaces glutamic acid at codon 121 of beta globin." [] synonym: "Haemoglobin D-Punjab" EXACT [] synonym: "Hb D-Los Angelese" EXACT [] synonym: "Hb D-Punjab" EXACT [] synonym: "Hemoglobin D (Chicago)" EXACT [] synonym: "Hemoglobin D (Los Angeles)" EXACT [] synonym: "Hemoglobin D (North Carolina)" EXACT [] synonym: "Hemoglobin D (Portugal)" EXACT [] synonym: "Hemoglobin D (Punjab)" EXACT [] synonym: "Hemoglobin Oak Ridge" EXACT [] is_a: SCDO:0000007 ! Abnormal Hemoglobin in SCD is_a: SCDO:1000007 ! Hemoglobin D relationship: SCDO:1000210 SCDO:1000109 ! has causal or contributing genetic variation HBB, GLU121GLN property_value: SCDO:0000303 "Request inclusion in the HPO, below \"Abnormal Hemoglobin\"/\"Hemoglobin D\"." xsd:string property_value: SCDO:0000340 http://health.utah.gov/nsp/Disorders/HB/Hb_D_Disease_DD/FactSheet_Provider_HbDD_En.pdf xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000529 name: deprecated Hemoglobin Disease Other than C,D,E,F,H,O-Arab,S def: "A disease caused by atypical hemoglobins molecules other than hemoglobin C,D,E, F, H, O-Arab and S." [] is_a: SCDO:0001336 ! from phenotype property_value: SCDO:0000303 "adapted from description under ID SCDO:0001065" xsd:string property_value: SCDO:0000340 http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/Hb-F-and-other-than-A-C-D-E-F-H-O-Arab-S xsd:string property_value: SCDO:0000340 SCDO:0001065 xsd:string is_obsolete: true [Term] id: SCDO:0000530 name: Hemoglobin E Disease def: "An autosomal recessive haemoglobinopathy characterized by an abnormal form of haemoglobin called haemoglobin E, which disrupts the oxygen-carrying ability of red blood cells. The condition can lead to mild or moderate hemolytic anemia; however, this condition often has no clinical manifestations.\nwith a generally benign, asymptomatic presentation." [] synonym: "Haemoglobin E Disease" EXACT [] synonym: "Hb E-Disease" EXACT [] xref: ORPHA:2133 is_a: SCDO:0008262 ! Structural Hemoglobinopathy relationship: SCDO:0000663 CHMO:0001009 ! diagnosed using tool High-Performance Liquid Chromatography relationship: SCDO:0000663 NCIT:C79903 ! diagnosed using tool Blood Smear relationship: SCDO:0000663 SCDO:0000424 ! diagnosed using tool Electrophoresis relationship: SCDO:0000664 SCDO:0000147 ! treated with Blood Transfusion relationship: SCDO:0000664 SCDO:0000580 ! treated with Hydroxyurea relationship: SCDO:0000664 SCDO:0001329 ! treated with Folic Acid relationship: SCDO:0001364 SCDO:1000242 ! has mode of inheritance Autosomal Recessive Homozygous relationship: SCDO:1000172 SCDO:1000229 ! has causal genotype Hemoglobin Genotype EE relationship: SCDO:1000218 NCIT:C3833 ! has manifestation Asymptomatic relationship: SCDO:1000223 SCDO:1000009 ! has causal molecular phenotype Hemoglobin E property_value: SCDO:0000340 http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/Hb-F-E xsd:string property_value: SCDO:0000340 https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=3654&Disease_Disease_Search_diseaseGroup=hemoglobin-E-disease&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Hemoglobin-E-disease&title=Hemoglobin%20E%20disease&search=Disease_Search_Simple property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000530 xsd:string [Term] id: SCDO:0000531 name: Hemoglobin E Trait def: "The inheritance of the gene for hemoglobin E from one parent and a gene for normal adult hemoglobin (hemoglobin A) from the other parent." [] comment: Hb E-carriers generally do not have any signs or symptoms related to abnormal hemoglobin. synonym: "Hb AE" EXACT [] synonym: "Hb E Trait" EXACT [] is_a: NCIT:C95534 ! Hemoglobin Trait relationship: SCDO:1000172 SCDO:1000227 ! has causal genotype Hemoglobin Genotype AE relationship: SCDO:1000210 SCDO:1000042 ! has causal or contributing genetic variation HBB, GLU26LYS property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: http://purl.org/dc/elements/1.1/source http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/Hb-F-A-E property_value: SCDO:0000303 "Request inclusion into NCIT below \"Hemoglobin Trait\"." xsd:string property_value: SCDO:0000340 http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/Hb-F-A-E xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000532 name: deprecated Hemoglobin E-Beta Thalassemia def: "'Hemoglobin E/xcexb2+ thalassemia is a form of beta-thalassemia that is often, but not always, milder than hemoglobin E/xcexb2xc2xb0 thalassemia. This condition shows a marked clinically diverse picture whereby abnormalities of xcexb2-globin chain synthesis result almost asymptomatic anemia to more severe transfusion-dependant anemia (Vichinsky, 2007).'" [] synonym: "Haemoglobin E-Beta Thalassemia" EXACT [] synonym: "Hemoglobin E Beta-Thalassemia" EXACT [] is_a: SCDO:0000272 ! obsolete Compound Heterozygous Hemoglobinopathy property_value: SCDO:0000340 http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=19177&Disease_Disease_Search_diseaseGroup=Hemoglobin-D-Beta-Thalassemia&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Hemoglobin-E-beta-thalassemia-syndrome&title=Hemoglobin-E-beta-thalassemia-syndrome&search=Disease_Search_Simple xsd:string is_obsolete: true [Term] id: SCDO:0000533 name: deprecated Hemoglobin F Profile def: "The score of fetal hemoglobin (Hb F) in the blood of an individual." [] is_a: SCDO:0000359 ! deprecated terms property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Gaston K Mazandu)" xsd:string property_value: SCDO:0000303 "Description not clear enough." xsd:string property_value: SCDO:1000288 "None" xsd:string is_obsolete: true replaced_by: SCDO:1000707 [Term] id: SCDO:0000535 name: obsolete Hemoglobin Lepore Baltimore def: "A variant of Hemoglobin Lepore Syndrome." [] synonym: "Hb Lepore Baltimore" EXACT [] is_a: SCDO:0001336 ! from phenotype property_value: SCDO:0000340 http://en.wikipedia.org/wiki/Hemoglobin_Lepore_syndrome xsd:string is_obsolete: true [Term] id: SCDO:0000536 name: Hemoglobin Lepore Boston Disease def: "A variant of Hemoglobin Lepore Syndrome. Crossover occurs between glutamine at position 87 of delta chain and histidine at position 116 of beta chain. It is associated with unusual high levels of Hb F. This is the only one of the three variants of described in association with HbS." [] synonym: "Hb Lepore Boston Syndrome" EXACT [] synonym: "Hb Lepore Washington Syndrome" EXACT [] synonym: "Hb Lepore Washington-Boston Syndrome" EXACT [] synonym: "Hemoglobin Lepore Boston-Washington" EXACT [] synonym: "Hemoglobin Lepore Washington Syndrome" EXACT [] synonym: "Hemoglobin Lepore Washington-Boston Syndrome" EXACT [] is_a: NCIT:C141366 ! Hemoglobin Lepore Syndrome relationship: SCDO:0000663 CHMO:0001009 ! diagnosed using tool High-Performance Liquid Chromatography relationship: SCDO:0000663 NCIT:C15709 ! diagnosed using tool Genetic Testing relationship: SCDO:0000663 SCDO:0000666 ! diagnosed using tool Isoelectric Focusing relationship: SCDO:0001364 HP:0000007 ! has mode of inheritance Autosomal Recessive relationship: SCDO:1000172 SCDO:1000236 ! has causal genotype Hemoglobin Lepore Boston Genotype relationship: SCDO:1000210 SCDO:1000209 ! has causal or contributing genetic variation Crossover between delta (HBD) and beta globin (HBB) gene loci relationship: SCDO:1000223 SCDO:1000089 ! has causal molecular phenotype Hemoglobin Lepore Boston property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://en.wikipedia.org/wiki/Hemoglobin_Lepore_syndrome xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/C039800 property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000537 name: obsolete Hemoglobin Lepore Hollandia def: "A variant of Hemoglobin Lepore Syndrome." [] synonym: "Hb Hollandia" EXACT [] is_a: SCDO:0001336 ! from phenotype property_value: SCDO:0000340 http://en.wikipedia.org/wiki/Hemoglobin_Lepore_syndrome xsd:string is_obsolete: true [Term] id: SCDO:0000539 name: Hemoglobin Lepore Trait def: "The inheritance of the gene for hemoglobin Lepore from one parent and a gene for normal adult hemoglobin (hemoglobin A) from the other parent." [] synonym: "Heterozygous Hb Lepore" EXACT [] is_a: SCDO:0000551 ! Thalassemia Trait relationship: SCDO:1000218 NCIT:C3833 ! has manifestation Asymptomatic property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://en.wikipedia.org/wiki/Hemoglobin_Lepore_syndrome xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000540 name: deprecated Hemoglobin Lepore-Beta Thalassaemia def: "'A form of beta-thalassemia in which the patient is compound heterozygous for hemoglobin lepore and beta-thalassemia, which results in beta-thalassemia intermedia to beta-thalassemia major. [Curator team: []]'" [] synonym: "Hb Lepore-B-Thalassaemia" EXACT [] synonym: "Hemoglobin Lepore-B-Thalassaemia" EXACT [] synonym: "Hemoglobin Lepore-Beta Thalassaemia Syndrome" EXACT [] is_a: SCDO:0000272 ! obsolete Compound Heterozygous Hemoglobinopathy property_value: SCDO:0000303 "Add HBD to Disease Modifiers (below Gene Product)? And link to it." xsd:string is_obsolete: true [Term] id: SCDO:0000541 name: Hemoglobin M Disease def: "A type of dominant hereditary methemoglobinemia resulting from the production of hemoglobin M, which is readily oxidised to yield excess methemoglobin which leads to cyanosis." [] synonym: "Autosomal Dominant Congenital Methemoglobinemia Type II" EXACT [] synonym: "Autosomal Dominant Hereditary Methemoglobinemia Type II" EXACT [] synonym: "Hereditary MetHb Type II" EXACT [] synonym: "Hereditary Methemoglobinemia Type II" EXACT [] synonym: "M Hemoglobinopathy" EXACT [] synonym: "Second Form of Inherited MetHb" EXACT [] is_a: SCDO:0000559 ! Hereditary Methemoglobinemia is_a: SCDO:0008262 ! Structural Hemoglobinopathy relationship: SCDO:0000663 SCDO:0000424 ! diagnosed using tool Electrophoresis relationship: SCDO:0000663 SCDO:0000436 ! diagnosed using tool Enzymatic Assay relationship: SCDO:0001364 HP:0000006 ! has mode of inheritance Autosomal Dominant relationship: SCDO:1000172 SCDO:1000233 ! has causal genotype Hemoglobin Genotype M relationship: SCDO:1000223 SCDO:1000008 ! has causal molecular phenotype Hemoglobin M property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Suggest update to description in MESH" xsd:string property_value: SCDO:0000340 "a3" property_value: SCDO:0000340 http://medlineplus.gov/ency/article/000562.htm xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D006449 property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:0000542 name: obsolete - Hemoglobin M Trait is_a: SCDO:0000359 ! deprecated terms property_value: SCDO:0000303 "Hemoglobin M Disease is autosomal dominant, thus does not seem to have a \"trait\" condition." xsd:string property_value: SCDO:0000303 "Requires definition and source." xsd:string property_value: SCDO:1000288 "None" xsd:string is_obsolete: true [Term] id: SCDO:0000544 name: Hemoglobin O-Arab Disease def: "A very rare autosomal recessive hemoglobinopathy characterized by an abnormal form of hemoglobin called hemoglobin O-Arab. It is associated with a mild to moderate anemia." [] synonym: "Hb O-Arab Disease" EXACT [] synonym: "Homozygous Hb O-Arab" EXACT [] synonym: "Homozygous Hemoglobin O-Arab" EXACT [] is_a: SCDO:0008262 ! Structural Hemoglobinopathy relationship: SCDO:0000663 SCDO:0000424 ! diagnosed using tool Electrophoresis relationship: SCDO:0001364 SCDO:1000242 ! has mode of inheritance Autosomal Recessive Homozygous relationship: SCDO:1000172 SCDO:1000231 ! has causal genotype Hemoglobin Genotype O-Arab relationship: SCDO:1000210 SCDO:1000040 ! has causal or contributing genetic variation HBB, GLU121LYS relationship: SCDO:1000223 SCDO:0000514 ! has causal molecular phenotype Hemoglobin S relationship: SCDO:1000223 SCDO:1000016 ! has causal molecular phenotype Hemoglobin O-Arab property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://onlinelibrary.wiley.com/doi/10.1002/pbc.24414/pdf xsd:string property_value: SCDO:0000340 http://www.wardelab.com/14-3.html property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000545 name: Hemoglobin O-Arab Trait def: "The inheritance of hemoglobin O-Arab from one parent and a gene for normal adult hemoglobin (hemoglobin A) from the other parent." [] synonym: "Hb A/O-Arab" EXACT [] synonym: "Hb AO-Arab" EXACT [] synonym: "Heterozygous Hb O-Arab" EXACT [] synonym: "Heterozygous Hemoglobin O-Arab" EXACT [] is_a: NCIT:C95534 ! Hemoglobin Trait relationship: SCDO:0000663 SCDO:0000424 ! diagnosed using tool Electrophoresis relationship: SCDO:1000172 SCDO:1000228 ! has causal genotype Hemoglobin Genotype AO-Arab relationship: SCDO:1000210 SCDO:1000040 ! has causal or contributing genetic variation HBB, GLU121LYS property_value: SCDO:0000303 "Request inclusion into NCIT below \"Hemoglobin Trait\"." xsd:string property_value: SCDO:0000340 http://onlinelibrary.wiley.com/doi/10.1002/pbc.24414/pdf xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000546 name: Hemoglobin Profile def: "The type and relative amounts of various normal and abnormal hemoglobin types." [] is_a: CMO:0000508 ! Hemoglobin Measurement relationship: SCDO:1000190 SCDO:0000547 ! obtained via diagnostic tool Hemoglobin Profile Assay property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology." xsd:string property_value: SCDO:0000340 http://labtestsonline.org/understanding/analytes/sickle/tab/test/ xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000547 name: Hemoglobin Profile Assay def: "A bioassay that measures and identifies the different types of hemoglobin in the bloodstream. It can be used to identify and characterize the different variants in structure and synthesis of hemoglobin that cause sickle cell disease." [] synonym: "Haemoglobin Characterization" EXACT [] synonym: "Haemoglobinopathy Screen" EXACT [] synonym: "Hb Electrophoresis Plus Solubility" EXACT [] synonym: "Hemoglobin Characterization" EXACT [] synonym: "Hemoglobin Electrophoresis" EXACT [] synonym: "Hemoglobin Electrophoresis plus Solubility" EXACT [] synonym: "Hemoglobin Fractionation" EXACT [] synonym: "Hemoglobinopathy Evaluation" EXACT [] synonym: "Hemoglobinopathy Evaluation Profile Blood Test" EXACT [] synonym: "Hemoglobinopathy Fractionation Profile Blood Test" EXACT [] synonym: "Hemoglobinopathy Screen" EXACT [] xref: phenX:830301 is_a: SCDO:0000133 ! Blood Test relationship: SCDO:0001297 CMO:0000364 ! has essential measure Complete Blood Count relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:0001297 SCDO:0000740 ! has essential measure Medication Inventory relationship: SCDO:0001297 SCDO:1000342 ! has essential measure History of Transfusion Diagnostic Instrument property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/830301 property_value: SCDO:0000479 "PhenX protocol: Hemoglobin Characterization #830301" xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000547 xsd:string [Term] id: SCDO:0000548 name: Hemoglobin S Test def: "A test to quantify the presence of hemoglobin S in the blood and therefore determine whether a person has sickle cell trait or sickle cell disease." [] synonym: "Hemoglobin S Measurement" EXACT [] synonym: "Sickle Cell Identification" EXACT [] is_a: SCDO:0000522 ! Hemoglobin Variant Test property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Clair Ingram)" xsd:string property_value: SCDO:0000303 "In SNOMED CT this term is \"Sickle cell identification\".\nRequest inclusion into relevant ontology." xsd:string property_value: SCDO:0000340 http://www.questdiagnostics.com/testcenter/TestDetail.action?ntc=31852 xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000551 name: Thalassemia Trait def: "The inheritance of one of the faulty genes that causes thalassemia." [] is_a: NCIT:C95534 ! Hemoglobin Trait property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 https://www.nhs.uk/conditions/thalassaemia/carriers/ property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000552 name: Hemoglobinopathy def: "An inherited disorder of the structure and/or synthesis of hemoglobin, with a variable phenotype expression ranging from benign to severe." [] xref: NCIT:C3092 is_a: SCDO:0001000 ! SCDO property_value: SCDO:0000303 "Suggest update to description in NCIT" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C3092 property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000553 name: obsolete Hemoglobinopathy Toms River def: "Hemoglobinopathy Toms River, is also known as transient neonatal cyanosis and anemia due to toms river hemoglobin. An important gene associated with Hemoglobinopathy Toms River is HBG2 (Hemoglobin Subunit Gamma 2." [] synonym: "Anemia due to Toms River Hemoglobin" EXACT [] synonym: "Transient Neonatal Cyanosis" EXACT [] is_a: SCDO:0001336 ! from phenotype is_obsolete: true [Term] id: SCDO:0000556 name: Hepatic Span def: "The distance between the lower border of the liver in the mid-clavicular line, and the upper border of the liver in the mid-clavicular line." [] synonym: "Liver Span" EXACT [] is_a: CMO:0000021 ! Body Morphological Measurement relationship: SCDO:1000190 SCDO:0000864 ! obtained via diagnostic tool Palpation of Liver relationship: SCDO:1000190 SCDO:0000882 ! obtained via diagnostic tool Percussion of Liver property_value: SCDO:0000303 "The description needs to be reviewed by an expert. \nRequest inclusion into Clinical Measurement Ontology, below \"liver size measurement\"." xsd:string property_value: SCDO:0000340 http://en.wikipedia.org/wiki/Liver_span xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000557 name: obsolete Hepatitis B Test def: "A test for Hepatitis B Virus." [] synonym: "HBV Test" EXACT [] synonym: "Hepatitis B Virus Test" EXACT [] is_a: SCDO:1000034 ! from diagnostics property_value: SCDO:0000303 "Which Hepatitis B Test is to be referred to here? (There are various different types below \"Immunology Test\" in the \"Sage Bionetworks Synapse Ontology\")" xsd:string is_obsolete: true [Term] id: SCDO:0000558 name: obsolete Hepatitis C Test def: "A test for Hepatitis C Virus." [] is_a: SCDO:1000034 ! from diagnostics property_value: SCDO:0000303 "Is this test for viral load measurement or or antibody measurement? (See terms below \"Immunology Test\" in the \"Sage Bionetworks Synapse Ontology\")" xsd:string is_obsolete: true [Term] id: SCDO:0000559 name: Hereditary Methemoglobinemia def: "A rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinemia types I and II (RCM/RHM type 1; RCM/RHM type 2)." [] synonym: "Congenital Methemoglobinemia" EXACT [] synonym: "Hereditary MetHb" EXACT [] synonym: "HM" EXACT [] xref: ORPHA:621 is_a: SCDO:0000753 ! Methemoglobinemia property_value: SCDO:0000340 http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=3290&disease=Hereditary-methemoglobinemia&search=Disease_Search_Simple xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000559 xsd:string [Term] id: SCDO:0000564 name: Hip Replacement Arthroplasty def: "Replacement of the hip joint." [] synonym: "Hip Prosthesis Implantation" EXACT [] synonym: "Hip Replacement Arthroplasty" EXACT [] synonym: "Hip Replacements, Total" EXACT [] synonym: "Replacement Arthroplasties, Hip" EXACT [] synonym: "Total Hip Replacement" EXACT [] xref: MESH:D019644 is_a: SCDO:0001129 ! Supportive Therapeutics is_a: SCDO:0001133 ! Symptomatic Therapeutics property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D019644 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000564 xsd:string [Term] id: SCDO:0000565 name: Historically Controlled Study def: "A study that compares a group of participants receiving an intervention with a similar group from the past who did not." [] xref: MESH:D065386 is_a: SCDO:0000437 ! Epidemiologic Studies property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D065386 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000565 xsd:string [Term] id: SCDO:0000566 name: History of Head Trauma Diagnostic Instrument def: "A questionnaire to determine whether an individual has had a traumatic brain injury (TBI)." [] synonym: "History of Head Trauma Questionnaire" EXACT [] xref: phenX:130600 is_a: NCIT:C91105 ! Clinical or Research Assessment Questionnaire is_a: SCDO:1000033 ! Diagnostic Instrument property_value: SCDO:0000303 "Suggest update to label as we have done. We are using \"History of Head Trauma\" below Personal Attribute." xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/PHENX?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FphenX%2F130600 property_value: SCDO:0000479 "PhenX protocol: History of Head Trauma #130601" xsd:string property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0000567 name: History of Kidney Failure Diagnostic Instrument def: "A questionnaire to determine if the respondent has a history of kidney failure." [] synonym: "History of Kidney Failure Questionnaire" EXACT [] xref: phenX:140600 is_a: NCIT:C91105 ! Clinical or Research Assessment Questionnaire is_a: SCDO:1000033 ! Diagnostic Instrument relationship: SCDO:0001297 CMO:0000003 ! has essential measure Blood Pressure Measurement relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:0001297 SCDO:0000570 ! has essential measure History of Type I and Type 2 Diabetes Diagnostic Instrument property_value: SCDO:0000303 "Link to? \n-- Kidney Failure \n-- Personal Attribute---> Personal medical history --> History of Kidney Failure" xsd:string property_value: SCDO:0000303 "Suggest update to label as we have done. We are using \"History of Kidney Failure\" below Personal Attribute." xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/140601 property_value: SCDO:0000479 "PhenX protocol: Personal History of Kidney Failure #140601" xsd:string property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0000568 name: History of Stroke - Ischemic Infarction and Hemorrhage - Diagnostic Instrument def: "A questionnaire to determine if the respondent has had an ischemic infarction (i.e. stroke) and/or any symptoms related to this event." [] synonym: "History of Stroke - Ischemic Infarction and Hemorrhage - Questionnaire" EXACT [] xref: phenX:130300 is_a: NCIT:C91105 ! Clinical or Research Assessment Questionnaire is_a: SCDO:1000033 ! Diagnostic Instrument property_value: SCDO:0000303 "Suggest update to label as we have done. We are using \"History of Stroke\" below Personal Attribute." xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/PHENX?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FphenX%2F130300 property_value: SCDO:0000479 "PhenX protocol: History of Stroke - Ischemic Infarction and Hemorrhage #130301" xsd:string property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0000570 name: History of Type I and Type 2 Diabetes Diagnostic Instrument def: "A questionnaire to determine a respondent's history of type 1 or type 2 diabetes." [] xref: phenX:140500 is_a: NCIT:C91105 ! Clinical or Research Assessment Questionnaire is_a: SCDO:1000033 ! Diagnostic Instrument relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:0001297 SCDO:0000987 ! has essential measure Reproductive History Diagnostic Instrument property_value: SCDO:0000303 "Link to? -- Personal Attribute---> Personal medical history --> History of Type I and Type 2 Diabetes" xsd:string property_value: SCDO:0000303 "Suggest update to label as we have done. We are using \"History of Type I and Type 2 Diabetes\" below Personal Attribute." xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/PHENX?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FphenX%2F140500 property_value: SCDO:0000479 "PhenX protocol: Personal History of Type 1 and Type 2 Diabetes #140501" xsd:string property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0000571 name: HIV Test def: "A bioassay to measure human immunodeficiency virus (HIV) antibodies and/or HIV antigens in order to determine whether an individual has an HIV infection." [] synonym: "HIV Assay" EXACT [] synonym: "Human Immunodeficiency Virus Assay" EXACT [] synonym: "Human Immunodeficiency Virus Test" EXACT [] is_a: SCDO:0000133 ! Blood Test relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000303 "Also below \"Immunochemical Assay\"?" xsd:string property_value: SCDO:0000340 https://aidsinfo.nih.gov/understanding-hiv-aids/fact-sheets/19/47/hiv-testing property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/160901 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000572 name: Hospital Anxiety and Depression Scale (HADS) def: "The HADS consists of 2 subscales each with 7 items for measuring anxiety, and 7 items for depression rated from 0 - 3. Anxiety and depression scores are obtained by adding up the ratings of the items on each subscale. A score above 8 in any of the subscales indicates that the patient has experienced clinically significant anxiety or depression over the past week." [] synonym: "HADS" EXACT [] synonym: "HADS Questionnaire" EXACT [] synonym: "HADS01" EXACT [] synonym: "Hospital Anxiety and Depression Scale" EXACT [] synonym: "Hospital Anxiety and Depression Scale Questionnaire" EXACT [] synonym: "Hospital Anxiety and Depression Scale Questionnaire (HADS)" EXACT [] xref: NCIT:C103520 is_a: SCDO:0000951 ! Quality of Life and Care Measure is_a: SCDO:1000297 ! Quality of Life and Care Diagnostic Instrument property_value: http://purl.org/dc/elements/1.1/source http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C103520 property_value: SCDO:0000340 "Zigmond A.S. and Snaith R.P. (1983). The hospital anxiety and depression scale. Acta Psychiatry Scandinavia, 67, 361-370. Anie, K.A.; Green, J.; Tata, P.; Fotopoulos, C. E.; Oni, L. and Davies, S. C. (2002) Self-help manual-assisted cognitive behavioural therapy for sickle cell disease. Behavioural and Cognitive Psychotherapies, 30, 451-458" xsd:string property_value: SCDO:0000470 "multiple" xsd:string property_value: SCDO:0000481 "Patient Reported Outcome" xsd:string property_value: SCDO:0000482 "Clinic Patients" xsd:string property_value: SCDO:0001033 "Widely used around the world, also used in SCD" xsd:string property_value: SCDO:0001222 "Adults (18 to 91 years)" xsd:string property_value: SCDO:1000288 "Few but definitions not specific enough" xsd:string [Term] id: SCDO:0000573 name: Hospitalization def: "The confinement of a patient in a hospital." [] synonym: "Hospital Admission" EXACT [] synonym: "Hospitalisation" EXACT [] synonym: "Hospitalisations" EXACT [] synonym: "Hospitalizations" EXACT [] xref: MESH:D006760 is_a: SCDO:0000493 ! Health Service Utilization property_value: SCDO:0000303 "Perhaps \"Hospital Utilization\" would be better here?" xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D006760 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000573 xsd:string [Term] id: SCDO:0000574 name: Household Roster-Relationships def: "A record of those living in the respondent's household and about his or her relationship with them." [] xref: phenX:11400 is_a: NCIT:C16495 ! Demographic Factor is_a: SCDO:0001090 ! Socioeconomic Factors is_a: SCDO:1000157 ! Quality of Life Related Personal Attribute relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:0001297 SCDO:0000307 ! has essential measure Current Marital Status property_value: SCDO:0000303 "Request inclusion into MESH below \"Social Conditions\"?" xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/11402 property_value: SCDO:0000479 "PhenX protocol: Household Roster-Relationships #11402" xsd:string property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:0000576 name: Hydration Therapy def: "A unique treatment that administers electrolyte-packed IV fluids directly into a patient's bloodstream. Depending on the patient's needs, the fluid may be enhanced with additives such as calcium, magnesium sulfate or a Vitamin B complex. It is a far more efficient method of absorption when compared to the traditional method of drinking liquids/electrolytes." [] xref: NCIT:C66896 is_a: NCIT:C15900 ! Lifestyle Therapy is_a: SCDO:0000922 ! Preventative Therapeutics relationship: SCDO:1000018 DOID:1584 ! treats Acute Chest Syndrome relationship: SCDO:1000018 HP:0001953 ! treats Diabetic Ketoacidosis relationship: SCDO:1000018 SCDO:0000812 ! treats Non-specific Acute Lower Respiratory Tract Episode relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: http://purl.org/dc/elements/1.1/source http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C66896 property_value: SCDO:0000303 "Suggest update to description in NCIT (currently no description)" xsd:string property_value: SCDO:0000340 https://recoveryhydrationtherapy.com/what-is-hydration-therapy/ property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000580 name: Hydroxyurea def: "An antineoplastic agent that inhibits DNA synthesis through the inhibition of ribonucleoside diphosphate reductase." [] synonym: "Hydrea" EXACT [] synonym: "Hydroxycarbamide" EXACT [] synonym: "Oncocarbide" EXACT [] xref: MESH:D006918 is_a: CHEBI:23888 ! Drug is_a: SCDO:0000922 ! Preventative Therapeutics relationship: SCDO:1000015 SCDO:0000251 ! modifies Clinical Phenotype of Beta Thalassemia relationship: SCDO:1000015 SCDO:0000895 ! modifies Phenotype of Sickle Cell Disease relationship: SCDO:1000015 SCDO:1000707 ! modifies Hemoglobin F Level relationship: SCDO:1000018 DOID:1584 ! treats Acute Chest Syndrome relationship: SCDO:1000018 EUPATH:0000215 ! treats Severe Anemia relationship: SCDO:1000018 HP:0000112 ! treats Nephropathy relationship: SCDO:1000018 NCIT:C129072 ! treats Hereditary Persistence of Fetal Hemoglobin relationship: SCDO:1000018 NCIT:C155310 ! treats Sickle Cell Disease-SD relationship: SCDO:1000018 NCIT:C155312 ! treats Sickle Cell Chronic Lung Disease relationship: SCDO:1000018 SCDO:0000519 ! treats Hemoglobin C Disease relationship: SCDO:1000018 SCDO:0000530 ! treats Hemoglobin E Disease relationship: SCDO:1000018 SCDO:0000972 ! treats Recurrent Wheeze in Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D006918 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000580 xsd:string [Term] id: SCDO:0000581 name: Hydroxyurea-Induced Adverse Event def: "A causal adverse drug event that is induced by hydroxyurea." [] is_a: SCDO:0000191 ! Causal Adverse Drug Event relationship: SCDO:1000199 SCDO:0000580 ! induced by Hydroxyurea property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into OAE below \"Causal Adverse Drug Event\"." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000582 name: Hydroxyurea-Induced Cutaneous Adverse Event def: "A hydroxyurea-induced adverse event that has an outcome relating to or affecting the skin." [] is_a: SCDO:0000581 ! Hydroxyurea-Induced Adverse Event relationship: SCDO:1000199 SCDO:0000580 ! induced by Hydroxyurea property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into OAE below \"Hydroxyurea-Induced Adverse Event\" (also suggested by us for inclusion).\nOr \nObsolete and use an object property (has adverse events) to link Hydroxyea to Cutaneous." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000583 name: Hydroxyurea-Induced Splenomegaly Adverse Event def: "A hydroxyurea-induced adverse event that has the outcome of splenomegaly." [] is_a: SCDO:0000581 ! Hydroxyurea-Induced Adverse Event relationship: SCDO:1000199 SCDO:0000580 ! induced by Hydroxyurea property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into OAE below \"Hydroxyurea-Induced Adverse Event\" (also suggested by us for inclusion).\nOr\nDelete and use an object property (has adverse events) to link Hydroxyea to Splenomegaly." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000588 name: Hyperkalemia def: "Abnormally high potassium concentration in the blood, most often due to defective renal excretion. It is characterized clinically by electrocardiographic abnormalities (elevated T waves and depressed P waves, and eventually by atrial asystole). In severe cases, weakness and flaccid paralysis may occur. (Dorland, 27th ed)." [] synonym: "High Blood Potassium Levels" EXACT [] synonym: "Hyperkalemias" EXACT [] synonym: "Hyperpotassemia" EXACT [] synonym: "Hyperpotassemias" EXACT [] xref: MESH:D006947 is_a: SCDO:0002674 ! Abnormality of Metabolism/Homeostasis relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D006947 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000588 xsd:string [Term] id: SCDO:0000593 name: Hyperpigmentation def: "Excessive pigmentation of the skin, usually as a result of increased epidermal or dermal melanin pigmentation, hypermelanosis. Hyperpigmentation can be localized or generalized. The condition may arise from exposure to light, chemicals or other substances, or from a primary metabolic imbalance." [] synonym: "Hypermelanoses" EXACT [] synonym: "Hypermelanosis" EXACT [] synonym: "Hyperpigmentation of the skin" EXACT [] synonym: "Skin Hyperpigmentation" EXACT [] xref: MESH:D017495 is_a: HP:0011121 ! Abnormality of Skin Morphology property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D017495 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000593 xsd:string [Term] id: SCDO:0000598 name: Hypnotics and Sedatives def: "Drugs used to induce drowsiness or sleep or to reduce psychological excitement or anxiety." [] synonym: "Hypnotics" EXACT [] synonym: "Sedatives" EXACT [] synonym: "Sedatives and Hypnotics" EXACT [] xref: MESH:D006993 is_a: CHEBI:23888 ! Drug is_a: SCDO:0001129 ! Supportive Therapeutics property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D006993 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000598 xsd:string [Term] id: SCDO:0000607 name: ICD-10-CM Diagnosis Codes def: "The ICD-10-CM diagnosis classification system developed by the Centers for Disease Control and Prevention for use in all U.S. health care treatment settings. Diagnosis coding under this system uses a different number of digits and some other changes, but the format is very much the same as ICD-9-CM. The National Center for Health Statistics (NCHS), the Federal agency responsible for use of the International Statistical Classification of Diseases and Related Health Problems, 10th revision (ICD-10) in the United States, has developed a clinical modification of the classification for morbidity purposes. The ICD-10 is used to code and classify mortality data from death certificates, having replaced ICD-9 for this purpose as of January 1, 1999. ICD-10-CM is the replacement for ICD-9-CM, volumes 1 and 2, effective October 1, 2015." [] is_a: SCDO:0000245 ! Clinical Coding property_value: SCDO:0000303 "Request inclusion into relevant ontology, perhaps below \"Clinical Coding\" in MESH." xsd:string property_value: SCDO:0000340 https://www.cdc.gov/nchs/icd/icd10cm.htm xsd:string property_value: SCDO:0000340 https://www.findacode.com/icd-10-cm/icd-10-cm-diagnosis-codes-set.html xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000611 name: Illness Perception Questionnaire Revised (IPQ-R) def: "The IPQ-R is an 84-item self-completed instrument developed to provide a quantitative measurement of the components of illness representations, as described by Leventhal's Common-Sense Model (CSM) of selfregulation it is divided into 3 sections: identity subscale (14 symptoms), causal subscale (18 causes), and a third section which contains 7 subscales, including consequences, timeline acute/chronic and cyclical, personal and treatment control/cure, illness coherence, and emotional representations. The questionnaire wording can be adapted to the specific illness by replacing the word illness with the name of the condition. For the identity subscale, respondents are asked if they have experienced a number of symptoms since their illness, and if they feel the symptoms are related to their current illness. Response is by circling 'yes' or 'no' to each question. Responses are then summed to give an overall score. For the causal subscale, respondents are asked what they perceive to be the cause of their illness and are asked to respond to each of the listed causes using a 5-point Likert style scale, ranging from strongly disagree to strongly agree. Respondents are also asked to rank the 3 most important factors believed to be the cause of their illness. The third section (7 subscales) is scored by summing responses to each item is on a 5-point Likert style scale, ranging from strongly disagree to strongly agree. All items for each of the subscales are summed to give an overall score. High scores on the identity, consequences, timeline acute/chronic and cyclical subscales represent strongly held beliefs about the number of symptoms attributed, the negative consequences, and the chronicity and cyclical nature of the illness. High scores on the personal and treatment control and coherence subscales represent positive beliefs about controllability and a personal understanding of the illness." [] synonym: "Illness Perception Questionnaire Revised" EXACT [] synonym: "IPQ-R" EXACT [] is_a: SCDO:0000951 ! Quality of Life and Care Measure property_value: http://purl.org/dc/elements/1.1/source "Moss-Morris R, Weinman J, Petrie KJ, Horne R, Cameron LD, Buick D (2002). The Revised Illness Perception Questionnaire (IPQ-R). Psychol Health 17:1-16." xsd:string property_value: SCDO:0000303 "Request inclusion into NCIT below \"Research or Clinical Assessment Tool\"." xsd:string property_value: SCDO:0000340 "Moss-Morris R, Weinman J, Petrie KJ, Horne R, Cameron LD, Buick D (2002). The Revised Illness Perception Questionnaire (IPQ-R). Psychol Health 17:1-16." xsd:string property_value: SCDO:0000470 "multiple" xsd:string property_value: SCDO:0000481 "Patient Reported Outcome" xsd:string property_value: SCDO:0000482 "Clinic Patients" xsd:string property_value: SCDO:0000484 "many" xsd:string property_value: SCDO:0001033 "Good psychometric properties, widely used around the world, has been translated into several languages." xsd:string property_value: SCDO:0001222 "Adults" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000615 name: deprecated Immune System def: "The body's defense mechanism against foreign organisms or substances and deviant native cells. It includes the humoral immune response and the cell-mediated response and consists of a complex of interrelated cellular, molecular, and genetic components." [] xref: MESH:D007107 is_a: SCDO:0000511 ! obsolete Hemic and Immune Systems property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D007107 xsd:string is_obsolete: true replaced_by: SCDO:1000273 [Term] id: SCDO:0000616 name: Immunochemical Assay def: "An assay that identifies a substance (especially a protein) by its action as an antigen." [] is_a: NCIT:C16723 ! Immunological Assay property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 https://www.thefreedictionary.com/immunochemical+assay property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000618 name: Immunosuppressant Drug Level Decreased AE def: "A drug adverse event that has an outcome of decreased levels of immunosuppressant drugs in the patient's body." [] xref: OAE:0001071 is_a: SCDO:0000028 ! Adverse Drug Event property_value: SCDO:0000340 http://purl.obolibrary.org/obo/OAE_0001071 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000618 xsd:string [Term] id: SCDO:0000619 name: Immunoturbidimetry Assay def: "An assay that employs immunoturbidimetry, a method that measures the absorbance of light from a sample which is used for quantifying an amount of analyte based on the level of turbidity produced by the formation and precipitation of an immune complex containing the analyte." [] synonym: "Immunoturbidimetry Test" EXACT [] is_a: NCIT:C16723 ! Immunological Assay property_value: SCDO:0000303 "Request inclusion into relevant ontology. NCIT contains \"Immunoturbidimetry\", but not \"Immunoturbidimetry Assay\". Do we rather want to have this term as \"Immunoturbidimetry\"?" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C106536 xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000643 name: Insect Repellents def: "Substances causing insects to turn away from them or reject them as food." [] xref: MESH:D007302 is_a: SCDO:0000709 ! Malaria Prophylaxis property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D007302 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000643 xsd:string [Term] id: SCDO:0000649 name: Intelligence Scale - Birth to 3.5 years def: "A standardized tool designed to assess a child's development as compared to same-age peers. It has components that involve both direct observation and interaction with a child as well as caregiver questionnaires. It consists of five domains (cognitive, motor, language, social-emotional, and adaptive behavior)." [] synonym: "Bayley Scale of Infant Development III" EXACT [] synonym: "Bayley Scales of Infant and Toddler Development, Third Edition" EXACT [] synonym: "Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III)" EXACT [] synonym: "Bayley-III" EXACT [] xref: NCIT:C99150 is_a: NCIT:C122920 ! Intelligence Scale property_value: SCDO:0000303 "Life stage: Infant, Toddler, Child" xsd:string property_value: SCDO:0000303 "Suggest update to description in NCIT (we're not using their description, but their description says \"from one to twenty-four months of age\")" xsd:string property_value: SCDO:0000303 "The Sickle Cell Disease Neurology, Quality of Life, and Health Services Working Group recognizes that there is an age overlap between the Bayley-III and the Wechsler Preschool and Primary Scale of Intelligence-Fourth Edition (WPPSI - IV). The Working Group recommends that providers use their clinical judgment, consider the purpose of testing participants, and refer to the frequently asked questions section of the Pearson website for Bayley-III and the WPPSI-IV for guidance on selecting an age-appropriate test." xsd:string property_value: SCDO:0000340 http://www.phenxtoolkit.org/index.php?pageLink=browse.protocoldetails&id=820504 xsd:string property_value: SCDO:0000479 "PhenX protocol: Intelligence Scale - Birth to 3.5 years #820504" xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000650 name: Intentional Drug Misuse AE def: "An adverse drug event that results in the intentional use of a drug in the wrong way (recreationally etc)." [] xref: OAE:0001093 is_a: SCDO:0000028 ! Adverse Drug Event property_value: SCDO:0000340 http://purl.obolibrary.org/obo/OAE_0001093 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000650 xsd:string [Term] id: SCDO:0000651 name: Interrupted Time Series Analysis def: "A study that uses observations at multiple time points before and after an intervention (the interruption), in an attempt to detect whether the intervention has had an effect significantly greater than any underlying trend over time." [] synonym: "ITS Studies" EXACT [] xref: MESH:D065186 is_a: SCDO:0000437 ! Epidemiologic Studies property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D065186 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000651 xsd:string [Term] id: SCDO:0000653 name: deprecated-Intracerebral Haemorrhage def: "Intracerebral hemorrhage (ICH) is when blood suddenly bursts into brain tissue, causing damage to the brain." [] synonym: "Intracerebral Bleeding" EXACT [] is_a: SCDO:0001336 ! from phenotype property_value: SCDO:0000303 "Should this term be merged with \"Cerebral Hemorrhage\" and \"Intracerebral Haemorrhage\" made a synonym of \"Cerebral Hemorrhage\"? -- -- Specify description source and source for additional info." xsd:string is_obsolete: true replaced_by: SCDO:0000209 [Term] id: SCDO:0000656 name: Intracranial Hypotension def: "CSF pressure less than 6 cm of H2O in patients with clinical presentation compatible with intracranial hypotension, which are postural headache, nausea, vomiting, neck pain, visual and hearing disturbances, and vertigo. It most commonly results from CSF leaks somewhere along the neuraxis." [] synonym: "Craniospinal Hypotension" EXACT [] synonym: "Decreased Intracranial Pressure" EXACT [] xref: DOID:4723 is_a: HP:0012638 ! Abnormal Nervous System Physiology relationship: SCDO:0000664 SCDO:1000017 ! treated with Surgery property_value: http://purl.org/dc/elements/1.1/source http://radiopaedia.org/articles/intracranial-hypotension-1 property_value: SCDO:0000303 "Suggest update to description in DOID (currently no description)" xsd:string property_value: SCDO:0000340 https://radiopaedia.org/articles/intracranial-hypotension-1 property_value: SCDO:0000468 "Spontaneous intracranial hypotension is typically encountered in middle age (30-50 years of age) and has a predilection for women (F:M 2:1). Of interest, this is a similar demographic to pseudotumour cerebri, which is believed to be an unrecognised predisposing factor. Epidemiology of secondary intracranial hypotension is variable and matches that of the underlying cause." xsd:string property_value: SCDO:0000472 "Intracranial hypotension can broadly be divided into: 1.Primary: usually referred to as spontaneous intracranial hypotension. 2. Secondary: iatrogenic (LP or surgery), over shunting due to diversion devices or traumatic." xsd:string property_value: SCDO:0000662 "Generally, there are no localising symptoms forms directly from the leak, as CSF is absorbed into tissues. The condition often presents as a positional headache which is relieved by a recumbent position, usually within 15-30min. It is confirmed by assessing opening pressure on LP (less than 7 cm CSF). Note that when this is done fluoroscopically, it should be performed in a lateral position to allow for accurate measurement of pressure. Occasionally presentation is more sinister, with even decreased level of consciousness and coma reported." xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000657 name: Intraosseous Pressure def: "The hydrostatic pressure of venous blood in the marrow of bones." [] synonym: "IOP" EXACT [] is_a: SCDO:0000728 ! Diagnostic Measurement relationship: SCDO:1000193 SCDO:0000710 ! output of diagnostic device Manometer property_value: SCDO:0000303 "Term should be requested for inclusion into the \"Ontology of Biological Attributes\", perhaps in an appropriate location under \"organ system trait\". Or perhaps below \"bone measurement\" or \"bone marrow measurement\" in the CMO?" xsd:string property_value: SCDO:0000340 http://medical-dictionary.thefreedictionary.com/intraosseous xsd:string property_value: SCDO:0000340 http://www.ncbi.nlm.nih.gov/pubmed/6456552 xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000665 name: Ischemia def: "A hypoperfusion of the blood through an organ or tissue caused by a pathologic constriction or obstruction of its blood vessels, or an absence of blood circulation." [] synonym: "Ischemias" EXACT [] xref: MESH:D007511 is_a: HP:0001626 ! Abnormality of Cardiovascular System relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000303 "Should this be under \"Abnormal Cardiovascular System Morphology\" or \"\"Abnormal Cardiovascular System Physiology\"?" xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D007511 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000665 xsd:string [Term] id: SCDO:0000666 name: Isoelectric Focusing def: "Electrophoresis in which a pH gradient is established in a gel medium and proteins migrate until they reach the site (or focus) at which the pH is equal to their isoelectric point." [] synonym: "Electrofocusing" EXACT [] synonym: "IEF" EXACT [] xref: MESH:D007525 is_a: SCDO:0000424 ! Electrophoresis is_a: SCDO:1000577 ! Type of SCD Test property_value: http://purl.org/dc/elements/1.1/source http://labtestsonline.org/understanding/analytes/hemoglobin-var/tab/test/ property_value: SCDO:0000303 "Perhaps change label to \"Hemoglobin Isoeletcric Focusing\"? Exactsynonym \"Hb IEF\". See dc:source provided." xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D007525 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000666 xsd:string [Term] id: SCDO:0000676 name: Kidney Function Test def: "Laboratory tests used to evaluate how well the kidneys are working through examination of blood and urine." [] synonym: "Kidney Function Tests" EXACT [] synonym: "Renal Function Test" EXACT [] synonym: "Renal Function Tests" EXACT [] xref: MESH:D007677 is_a: SCDO:0000902 ! Physiological Assay property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D007677 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000676 xsd:string [Term] id: SCDO:0000677 name: Kinesiotherapy def: "A specialized area of medicine in which exercise and movement are used as the primary form of rehabilitation." [] is_a: SCDO:0000978 ! Rehabilitation property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://medical-dictionary.thefreedictionary.com/kinesiotherapy xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000678 name: Knowledge about Sickle Cell Disease def: "Collections of facts, assumptions, beliefs and practices that health professionals hold about the aetiology, pathophysiology, quality management of SCD and related social support systems based on global standards." [] is_a: SCDO:0000246 ! Clinical Competence property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Probably too specific to SCD to be included in other ontologies." xsd:string property_value: SCDO:0000340 https://www.ncbi.nlm.nih.gov/mesh/?term=base%2C+knowledge; xsd:string property_value: SCDO:0000340 https://www.ncbi.nlm.nih.gov/pubmed/20353928 xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000682 name: Lactate Dehydrogenase Level def: "The level of lactate dehydrogenase, an enzyme released during tissue damage and injury, found in a specified biological specimen." [] comment: Normal and abnormal ranges given here: https://www.healthline.com/health/lactate-dehydrogenase-test#results synonym: "Lactate Dehydrogenase Levels" EXACT [] synonym: "Lactic Acid Dehydrogenase Level" EXACT [] synonym: "LD Level" EXACT [] synonym: "LDH Level" EXACT [] is_a: CMO:0000023 ! Blood Chemistry Measurement relationship: SCDO:0001297 NCIT:C16564 ! has essential measure Ethnic Group relationship: SCDO:0001297 NCIT:C17049 ! has essential measure Race relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:1000190 SCDO:0000683 ! obtained via diagnostic tool Lactate Dehydrogenase Test relationship: SCDO:1000190 SCDO:0001230 ! obtained via diagnostic tool Venipuncture relationship: SCDO:1000772 HP:0025435 ! has possible finding Increased Lactate Dehydrogenase Level relationship: SCDO:1000772 SCDO:1000684 ! has possible finding Reduced Lactate Dehydrogenase Level relationship: SCDO:1000772 SCDO:1000833 ! has possible finding Normal Lactate Dehydrogenase Level property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology\nShould this term's name be changed to \"L-Lactate Dehydrogenase Level\"?" xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000683 name: Lactate Dehydrogenase Test def: "A bioassay to measure levels of lactate dehydrogenase, an enzyme released during tissue damage and injury." [] synonym: "Lactate Dehydrogenase Level Test" EXACT [] synonym: "Lactic Acid Dehydrogenase Test" EXACT [] synonym: "LDH Test" EXACT [] xref: phenX:811001 is_a: SCDO:0000133 ! Blood Test relationship: SCDO:0001297 NCIT:C16564 ! has essential measure Ethnic Group relationship: SCDO:0001297 NCIT:C17049 ! has essential measure Race relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:1000194 SCDO:0000682 ! measures Lactate Dehydrogenase Level property_value: SCDO:0000303 "Suggest update to label in PhenX (from \"Lactate Dehydrogenase Level\")." xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/811001 property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0000685 name: Leg Ulcer def: "Ulceration of the skin and underlying structures of the lower extremity. About 90% of the cases are due to venous insufficiency (varicose ulcer), 5% to arterial disease, and the remaining 5% to other causes." [] synonym: "Leg Ulcers" EXACT [] xref: MESH:D007871 is_a: HP:0200042 ! Skin Ulcer relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D007871 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000685 xsd:string [Term] id: SCDO:0000689 name: Lifestyle def: "Typical way of life or manner of living characteristic of an individual or group. (From APA, Thesaurus of Psychological Index Terms, 8th ed)." [] synonym: "Life Style" EXACT [] xref: MESH:D008019 is_a: SCDO:0000487 ! Health Behaviour property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D008019 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000689 xsd:string [Term] id: SCDO:0000691 name: Light Coagulation def: "The coagulation of tissue by an intense beam of light, including laser (laser coagulation). In the eye it is used in the treatment of retinal detachments, retinal holes, aneurysms, hemorrhages, and malignant and benign neoplasms. (Dictionary of Visual Science, 3d ed)" [] synonym: "Light Coagulations" EXACT [] synonym: "Photocoagulation" EXACT [] synonym: "Photocoagulations" EXACT [] xref: MESH:D008028 is_a: SCDO:0000833 ! Ophthalmologic Surgical Procedure property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D008028 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000691 xsd:string [Term] id: SCDO:0000694 name: Liver Examination def: "Any process carried out to determine the condition of a patient's liver." [] xref: IDODEN:0003652 is_a: SCDO:0000898 ! Physical Examination relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/IDODEN?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FIDODEN_0003652 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000694 xsd:string [Term] id: SCDO:0000698 name: Locus of Control def: "Personality construct referring to an individual's perception of the locus of events as determined internally by his or her own behaviour versus fate, luck, or external forces." [] synonym: "Control Locus" EXACT [] synonym: "External-Internal Control" EXACT [] synonym: "Health Locus of Control" EXACT [] synonym: "Internal-External Control" EXACT [] synonym: "Sense of Control" EXACT [] xref: MESH:D007389 is_a: SCDO:0000488 ! Health Beliefs property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D007389 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000698 xsd:string [Term] id: SCDO:0000699 name: Longitudinal Studies def: "Studies in which variables relating to an individual or group of individuals are assessed over a period of time." [] synonym: "Heart Study, Jackson" EXACT [] xref: MESH:D008137 is_a: SCDO:0000437 ! Epidemiologic Studies property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D008137 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000699 xsd:string [Term] id: SCDO:0000702 name: Lot Quality Assurance Sampling def: "A sampling methodology using small sample sizes when conducting surveys in small geographical or population-based areas or lots." [] synonym: "LQAS" EXACT [] xref: MESH:D055810 is_a: SCDO:0300004 ! Epidemiologic Study Characteristics property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D055810 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000702 xsd:string [Term] id: SCDO:0000704 name: Lung Volume Measurement def: "Measurement of the amount of air that the lungs may contain at various points in the respiratory cycle." [] synonym: "Lung Capacities" EXACT [] synonym: "Lung Capacity" EXACT [] synonym: "Lung Volume" EXACT [] synonym: "Lung Volume Measurements" EXACT [] xref: MESH:D008176 is_a: CMO:0000094 ! Respiratory System Measurement relationship: SCDO:0001297 NCIT:C16564 ! has essential measure Ethnic Group relationship: SCDO:0001297 NCIT:C17049 ! has essential measure Race relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000149 ! has essential measure Body Height relationship: SCDO:0001297 SCDO:0000152 ! has essential measure Body Weight relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:1000190 NCIT:C85397 ! obtained via diagnostic tool Spirometry relationship: SCDO:1000190 SCDO:0000705 ! obtained via diagnostic tool Lung Volume Test relationship: SCDO:1000193 SCDO:0001099 ! output of diagnostic device Spirometer relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada property_value: SCDO:0000303 "Perhaps use the \"DEFINITIONS AND SUBDIVISIONS OF LUNG VOLUME\" section in the \"Lung Function - Lung Volume #810401\" protocol source in PhenX to include types of lung volume as subclasses. Can also use subclasses of Experimental Factor Ontology -- (EFO) term \"pulmonary function measurement or sub-classes of \"Lung Volume Measurements\" in MESH." xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D008176 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000704 xsd:string [Term] id: SCDO:0000705 name: Lung Volume Test def: "Clinical assessment to determine the volume of gas within an individual's lung." [] synonym: "Lung Function - Lung Volume" EXACT [] synonym: "Lung Volume Assay" EXACT [] synonym: "Pulmonary Volume Assay" EXACT [] synonym: "Pulmonary Volume Test" EXACT [] xref: phenX:810401 is_a: SCDO:0000942 ! Pulmonary Function Test relationship: SCDO:0001297 NCIT:C16564 ! has essential measure Ethnic Group relationship: SCDO:0001297 NCIT:C17049 ! has essential measure Race relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000149 ! has essential measure Body Height relationship: SCDO:0001297 SCDO:0000152 ! has essential measure Body Weight relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:1000192 SCDO:0001099 ! uses diagnostic device Spirometer relationship: SCDO:1000194 SCDO:0000704 ! measures Lung Volume Measurement property_value: SCDO:0000303 "Suggest update to label in PhenX (from \"Lung Function - Lung Volume\")\n\nPerhaps use the protocol source in PhenX to include different ways of measuring FRC (functional residual capacity) as subclasses (e.g. Measurement of FRC using body plethysmography, Measurement of FRC using nitrogen washout, Measurement of FRC using helium dilution, Measurement of lung volume using imaging techniques).\n\nSNOMED has more terms below \"Lung Volume Test\"\n\nLink to necessary medical device." xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/810401 property_value: SCDO:0000479 "PhenX protocol: Protocol - Lung Function - Lung Volume #810401" xsd:string property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0000706 name: obsolete Lymphoid System def: "'The lymphatic system in vertebrates is a network of conduits that carry a clear fluid called lymph. It also includes the lymphoid tissue through which the lymph travels. Lymphoid tissue is found in many organs, particularly the lymph nodes, and in the lymphoid follicles associated with the digestive system such as the tonsils. The system also includes all the structures dedicated to the circulation and production of lymphocytes, which includes the spleen, thymus, bone marrow and the lymphoid tissue associated with the digestive system. [Curator team: []]'" [] xref: UBERON:0002465 is_a: SCDO:0001336 ! from phenotype property_value: SCDO:0000340 http://purl.obolibrary.org/obo/UBERON_0002465 xsd:string is_obsolete: true [Term] id: SCDO:0000709 name: Malaria Prophylaxis def: "The use of drugs or other agents to prevent malarial infection. Examples: Proguanil, mefloquine, artesunate, insect repellant, insecticide-treated-bednet." [] synonym: "Malaria Prevention" EXACT [] is_a: SCDO:0000930 ! Infection Prophylaxis relationship: SCDO:1000018 HP:0002725 ! treats Systemic Lupus Erythematosus relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://www.cdc.gov/malaria/travelers/drugs.html xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000710 name: Manometer def: "An instrument that is used for measuring the pressure of liquids and gases." [] is_a: SCDO:0000376 ! Diagnostic Device relationship: SCDO:0000474 SCDO:0000657 ! has output measurement Intraosseous Pressure property_value: SCDO:0000303 "Request inclusion into \"Eagle-I Research Resource Ontology\", below the \"instrument\" term.\n\nPerhaps the specific manometer used for measuring \"Intraosseous Pressure\" should be added as a sub-class and linked to directly." xsd:string property_value: SCDO:0000340 http://www.dictionary.com/browse/manometer xsd:string property_value: SCDO:0000340 "The American Heritage Science Dictionary. Retrieved October 20, 2016 from Dictionary.com website" xsd:string property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:0000711 name: Marital Status of Primary Caregiver def: "The current marital status of the respondent's caregiver (i.e. family member or another individual who takes primary responsibility for the respondent)." [] xref: phenX:840101 is_a: NCIT:C19332 ! Personal Attribute is_a: SCDO:0001090 ! Socioeconomic Factors is_a: SCDO:1000157 ! Quality of Life Related Personal Attribute relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age property_value: SCDO:0000303 "Request inclusion into MESH below \"Family Characteristics\"." xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/840101 property_value: SCDO:0000479 "PhenX protocol: Marital Status of Primary Caregiver #840101" xsd:string property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:0000725 name: Measure of Frequency of Sickle Cell Pain Episodes def: "A questionnaire to capture the frequency of acute pain episodes within a defined time frame due to sickle cell disease (SCD). It includes three self-administered questions from the Cooperative Study of Sickle Cell Disease (CSSCD) that capture number of painful episodes that required visits to the emergency room or hospital or interfered with daily activities." [] xref: phenX:830100 is_a: NCIT:C91105 ! Clinical or Research Assessment Questionnaire is_a: SCDO:0000953 ! Quality of Life Measure is_a: SCDO:1000033 ! Diagnostic Instrument relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age property_value: SCDO:0000303 "Suggest update to label in PhenX as we have done here because we have used \"Frequency of Sickle Cell Pain Episodes Per Year\" for the Diagnostic Instrument Measurement." xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/830101 property_value: SCDO:0000479 "PhenX protocol: Frequency of Sickle Cell Pain Episodes Per Year #830101" xsd:string property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0000726 name: Measure of Sickle Cell Stigma (MoSCS) def: "Measure of disease specific stigma based on patient reported outcome measurements that assesses 4 MoSCS factors: Social exclusion, Internalized Stigma, Expected Discrimination and Disclosure concerns. Measure includes stigma scores; perceived disease severity, acute care service utilization, hospital admission levels. N=262." [] synonym: "Measure of Sickle Cell Stigma" EXACT [] synonym: "MoSCS" EXACT [] is_a: SCDO:0000951 ! Quality of Life and Care Measure property_value: http://purl.org/dc/elements/1.1/source "Bediako, Shawn M et al. “The Measure of Sickle Cell Stigma: Initial Findings from the Improving Patient Outcomes through Respect and Trust Study.” Journal of health psychology (2014): 1359105314539530. PMC. Web. 13 Mar. 2016. PMCID: PMC4627860" xsd:string property_value: SCDO:0000303 "Request inclusion into NCIT below \"Research or Clinical Assessment Tool\"." xsd:string property_value: SCDO:0000340 "J Health Psychol. 2016 May; 21(5): 808–820." xsd:string property_value: SCDO:0000470 "African-Americans" xsd:string property_value: SCDO:0000481 "Patient Reported Outcome" xsd:string property_value: SCDO:0000482 "Adults with Sickle Cell Disease" xsd:string property_value: SCDO:0001222 "Adults 18 years and older" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000727 name: Measured Weight def: "The weight of the participant in kilograms." [] is_a: SCDO:0000152 ! Body Weight property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000728 name: Diagnostic Measurement def: "An information entity used in the diagnosis of medical conditions. It could be the recording of the output of a diagnostic device or the outcome of a diagnostic tool." [] synonym: "Diagnostic Quantitative Measurement" EXACT [] is_a: SCDO:0000379 ! Diagnostics property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000737 name: Medical Outcomes Study (MOS) Social Support Survey def: "The MOS Social Support Survey is a self-administered questionnaire that includes 19 items across four functional support subscales: emotional/informational support (8 items), tangible/instrumental support (4 items), affectionate support (3 items), and positive social interaction (3 items). Each item is scored on a 5-point Likert style scale (1 = None of the Time; 5 = All of the Time) to indicate how often that type of support is available to them. A score for each social support subscale can be computed by averaging across the individual items or by adding scores individual items together. Higher scores indicate more support." [] synonym: "Medical Outcomes Study Social Support Survey" EXACT [] synonym: "MOS Social Support Survey" EXACT [] xref: NCIT:C110969 is_a: SCDO:0000951 ! Quality of Life and Care Measure property_value: http://purl.org/dc/elements/1.1/source http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C110969 property_value: http://purl.org/dc/elements/1.1/source http://www.rand.org/pubs/reprints/RP218.html property_value: SCDO:0000303 "Check and show which source was used for the description and whether the description was adapted from the source." xsd:string property_value: SCDO:0000303 "Suggest update to description in NCIT for \"Medical Outcomes Study Social Support Survey\"." xsd:string property_value: SCDO:0000340 "Sherbourne CD, Stewart A. The MOS Social Support Survey. Social Science and Medicine, v. 32, 1991, pp. 705-714." xsd:string property_value: SCDO:0000340 "Sherbourne, Cathy D. and Anita Stewart. The MOS Social Support Survey. Santa Monica, CA: RAND Corporation, 1993." xsd:string property_value: SCDO:0000470 "Multiple countries and cultural groups" xsd:string property_value: SCDO:0000481 "Self" xsd:string property_value: SCDO:0000482 "Clinic patients" xsd:string property_value: SCDO:0001222 "Adults 18 years and older" xsd:string property_value: SCDO:0001335 "no" xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000738 name: Medical Records def: "Recording of pertinent information concerning patient's illness or illnesses." [] xref: MESH:D008499 is_a: SCDO:0000948 ! Quality of Health Care property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D008499 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000738 xsd:string [Term] id: SCDO:0000739 name: Medication Adherence def: "Voluntary cooperation of the patient in taking drugs or medicine as prescribed. This includes timing, dosage, and frequency." [] xref: MESH:D055118 is_a: SCDO:0000869 ! Patient Compliance property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D055118 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000739 xsd:string [Term] id: SCDO:0000740 name: Medication Inventory def: "A record of the type and dosage of all prescription and over-the-counter medications as well as dietary supplements currently being taken by the individual." [] is_a: NCIT:C19332 ! Personal Attribute is_a: SCDO:1000157 ! Quality of Life Related Personal Attribute relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.phenxtoolkit.org/protocols/view/140301 property_value: SCDO:0000303 "Request inclusion into relevant ontology\n\nWould it also be appropriate to add this to \"Diagnostic Instrument\" below \"Diagnostics\"?" xsd:string property_value: SCDO:0000479 "PhenX protocol: Medication Inventory #140301" xsd:string property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:0000741 name: Meditation def: "A state of consciousness in which the individual eliminates environmental stimuli from awareness so that the mind can focus on a single thing, producing a state of relaxation and relief from stress. A wide variety of techniques are used to clear the mind of stressful outside interferences. It includes meditation therapy. (Mosby's Medical, Nursing, and Allied Health Dictionary, 4th ed)" [] synonym: "Transcendental Meditation" EXACT [] xref: MESH:D019122 is_a: SCDO:0001284 ! Behaviour Therapy property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D019122 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000741 xsd:string [Term] id: SCDO:0000742 name: Mefloquine def: "A phospholipid-interacting antimalarial drug (antimalarials). It is very effective against plasmodium falciparum with very few side effects." [] synonym: "Lariam" EXACT [] synonym: "Mephloquine" EXACT [] synonym: "WR142,490" EXACT [] xref: MESH:D015767 is_a: IDOMAL:0000122 ! Malaria Chemoprophylaxis relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D015767 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000742 xsd:string [Term] id: SCDO:0000743 name: Membranous Nephropathy def: "A type of glomerulonephropathy characterized by histology with thickening of the basement membrane and deposition of immune complexes in the subepithelial space." [] synonym: "Membranous Glomerulopathy" EXACT [] synonym: "MN" EXACT [] xref: HP:0012578 is_a: HP:0000112 ! Nephropathy is_a: HP:0002715 ! Abnormality of the Immune System relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors property_value: SCDO:0000303 "Suggest update to description in HPO" xsd:string property_value: SCDO:0000340 HP:0012578 property_value: SCDO:0000468 "Typically seen in adult population; rare in children." xsd:string property_value: SCDO:0000661 "Idiopathic - may be related to M-type phosplipase A2 receptor antibodies; secondary forms may be related to autoimmune disease, underlying maligancies, drugs or infections. Has been reported in patients with sickle cell disease." xsd:string property_value: SCDO:0000662 "Nephrotic syndrome with histologic features specific to membranous nephropathy." xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000746 name: Mental Health def: "Emotional, psychological, and social well-being of an individual or group." [] synonym: "Emotional Health" EXACT [] synonym: "Mental Hygiene" EXACT [] xref: MESH:D008603 is_a: NCIT:C17047 ! Quality of Life relationship: SCDO:1000015 NCIT:C17047 ! modifies Quality of Life property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D008603 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000746 xsd:string [Term] id: SCDO:0000747 name: Meta-Analysis def: "Works consisting of studies using a quantitative method of combining the results of independent studies (usually drawn from the published literature) and synthesizing summaries and conclusions which may be used to evaluate therapeutic effectiveness, plan new studies, etc. It is often an overview of clinical trials. It is usually called a meta-analysis by the author or sponsoring body and should be differentiated from reviews of literature." [] xref: MESH:D017418 is_a: SCDO:0000437 ! Epidemiologic Studies property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D017418 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000747 xsd:string [Term] id: SCDO:0000748 name: Metabolic State def: "The state of the chemical reactions that occur within the cells, tissues, or an organism. These processes include both the biosynthesis (anabolism) and the breakdown (catabolism) of organic materials utilized by the living organism." [] synonym: "Metabolic Function" EXACT [] xref: MESH:D008660 is_a: SCDO:0000122 ! Biological Disease Modifier property_value: SCDO:0000303 "Request inclusion into relevant ontology.\n\nAdd as sub-classes: Metabolic Function Normal and Metabolic Function Abnormal? (from SNOMED CT)" xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D008660 xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000753 name: Methemoglobinemia def: "The presence of methemoglobin in the blood, resulting in cyanosis. A small amount of methemoglobin is present in the blood normally, but injury or toxic agents convert a larger proportion of hemoglobin into methemoglobin, which does not function reversibly as an oxygen carrier. Methemoglobinemia may be due to a defect in the enzyme NADH methemoglobin reductase (an autosomal recessive trait) or to an abnormality in hemoglobin M (an autosomal dominant trait). (Dorland, 27th ed)" [] synonym: "MetHb" EXACT [] xref: MESH:D008708 is_a: OGMS:0000047 ! Genetic Disorder property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D008708 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000753 xsd:string [Term] id: SCDO:0000754 name: deprecated Diagnostic Method def: "'Any procedure or test to diagnose a disease or disorder. [Curator team: []]'" [] synonym: "Diagnostic Procedure" EXACT [] xref: NCIT:C18020 is_a: SCDO:1000034 ! from diagnostics property_value: SCDO:0000303 "Perhaps move other sibling classes below this class? (Imaging Test/Diagnostic Imaging, -- -- Include sub-class \"Biopsy\" and include specific types below that?" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C18020 xsd:string is_obsolete: true replaced_by: SCDO:0000082 [Term] id: SCDO:0000760 name: Migraine Questionnaire def: "A questionnaire to assess migraines and headaches." [] synonym: "Headache Disability Questionnaire" EXACT [] xref: phenX:130500 is_a: NCIT:C91105 ! Clinical or Research Assessment Questionnaire is_a: SCDO:1000033 ! Diagnostic Instrument property_value: SCDO:0000303 "Suggest update to label in PhenX (from \"Migraine\") as we have done." xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/PHENX/?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FphenX%2F130500&jump_to_nav=true property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0000762 name: Mobile Radiographic Unit def: "Transportable radiographic equipment allowing imaging services to be brought to the patient." [] is_a: OBI:0001138 ! X-Ray Machine property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://www.who.int/medical_devices/innovation/hospt_equip_26.pdf xsd:string property_value: SCDO:0000340 https://radiologykey.com/mobile-radiography/ xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000763 name: Mobility Limitation def: "Difficulty moving from place to place or from one position to another without assistance." [] synonym: "Ambulation Difficulty" EXACT [] synonym: "Ambulatory Difficulty" EXACT [] synonym: "Difficulty Ambulation" EXACT [] synonym: "Difficulty Walking" EXACT [] synonym: "Mobility Limitations" EXACT [] xref: MESH:D051346 is_a: SCDO:0000900 ! Physical Functioning property_value: SCDO:0000303 "Suggest update to description in MESH." xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D051346 xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000765 name: Genetic Phenomena def: "The biological processes, properties, and objects that are involved in maintaining, expressing, and transmitting from one organism to another, genetically encoded traits." [] synonym: "Concepts, Genetic" EXACT [] xref: MESH:D055614 is_a: SCDO:0001000 ! SCDO property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D055614 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000765 xsd:string [Term] id: SCDO:0000766 name: obsolete Modifying the Home Environment and Making it Safer For the Patient is_a: SCDO:1000035 ! from therapeutics property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/ADO/?p=classes&conceptid=http%3A%2F%2Fscai.fraunhofer.de%2FAlzheimerOntology%23Modifying_the_home_enviornment_and_make_it_safer_for_the_patient xsd:string is_obsolete: true [Term] id: SCDO:0000771 name: Morphine def: "The principal alkaloid in opium and the prototype opiate analgesic and narcotic. Morphine has widespread effects in the central nervous system and on smooth muscle." [] synonym: "17-methyl-7,8-didehydro-4,5alpha-epoxymorphinan-17-ium-3,6alpha-diol" EXACT [] synonym: "Morphia" EXACT [] synonym: "Morphium" EXACT [] xref: MESH:D009020 is_a: CHEBI:35482 ! Opioid relationship: SCDO:1000018 EUPATH:0000215 ! treats Severe Anemia relationship: SCDO:1000018 NCIT:C155310 ! treats Sickle Cell Disease-SD relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D009020 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000771 xsd:string [Term] id: SCDO:0000774 name: obsolete Multicenter Study def: "'A work that reports on a study executed by several cooperating institutions. [Curator team: []]'" [] xref: MESH:D016448 is_a: SCDO:0000941 ! obsolete Publication Type property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D016448 xsd:string is_obsolete: true [Term] id: SCDO:0000775 name: Multicenter Studies as Topic def: "Works about controlled studies which are planned and carried out by several cooperating institutions to assess certain variables and outcomes in specific patient populations, for example, a multicenter study of congenital anomalies in children." [] synonym: "Multicenter Trial" EXACT [] synonym: "Multicenter Trials" EXACT [] synonym: "Multicentre Studies as Topic" EXACT [] synonym: "Multicentre Trial" EXACT [] synonym: "Multicentre Trials" EXACT [] xref: MESH:D015337 is_a: SCDO:0300005 ! Research Characteristics property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D015337 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000775 xsd:string [Term] id: SCDO:0000776 name: Multidimensional Health Locus of Control Scales (MHLC) def: "The multidimensional health locus of control (MHLC) scale is a widely used measure of the factors that people believe exert some measures of control over their health. The MHLC originally developed by Wallston and colleagues contained 3 subscales describing various types of control-related cognitions an individual may have about the current state of his or her health. These were: Internal Health Locus of Control (IHLC), Powerful Others Health Locus of Control (PHLC) and Chance Health Locus of Control (CHLC). Subsequently, a fourth subscale, the God Locus of Health Control (G LHC) scale was developed to assess the extent of an individual's belief that God controls his or her health status was added to the measure. Thus, the expanded MHLC Consists of 4 sub-scales: one Internal and 3 external subscales namely, powerful others, chance and God. Each of the 4 sub-scales has 6 items making a total of 24 items. The two original versions of the MHLC (forms A & B) deal with the general health status whereas the third version (Form C) assesses control-related cognitions about a specific disease state." [] synonym: "MHLC" EXACT [] synonym: "MHLC Scales" EXACT [] synonym: "Multidimensional Health Locus of Control Scales" EXACT [] is_a: SCDO:0000951 ! Quality of Life and Care Measure property_value: http://purl.org/dc/elements/1.1/source "Wallston K., Wallston B. and De Vellis R. (1978). Development of the multidimensional health locus of control (MHLC) scales. Health Education Monographs, 6, 160-169." xsd:string property_value: http://purl.org/dc/elements/1.1/source "Wallston KA, Malcarne VL, Flores L, Hansdottir I, Smith CA, Stein MJ, Weisman MH, Clements PJ. Does God Determine Your Health? The God Locus of Health Control Scale. Cognitive Therapy and Research . April 1999, Volume 23 (2):131-142." xsd:string property_value: SCDO:0000303 "Request inclusion into NCIT below \"Research or Clinical Assessment Tool\"." xsd:string property_value: SCDO:0000470 "Multiple countries and cultural groups" xsd:string property_value: SCDO:0000481 "Self" xsd:string property_value: SCDO:0000482 "Healthy population and patients with specific medical conditions" xsd:string property_value: SCDO:0000484 "Spanish; Chinese; Persian" xsd:string property_value: SCDO:0001033 "Has adequate construct validity and acceptable metric properties" xsd:string property_value: SCDO:0001222 "15 years and above" xsd:string property_value: SCDO:0001335 "no" xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000777 name: Muscle Atrophy def: "The presence of skeletal muscular atrophy, reduction in the muscle bulk." [] synonym: "Amyotrophy" EXACT [] synonym: "Muscle Wasting" EXACT [] synonym: "Muscular Atrophy" EXACT [] synonym: "Neurogenic Muscle Atrophy" EXACT [] synonym: "Skeletal Muscle Atrophy" EXACT [] xref: HP:0003202 is_a: SCDO:1000268 ! Abnormality of the Musculature property_value: SCDO:0000303 "Suggest update to description in HPO.\n\nProvide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0003202 xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000780 name: deprecated Musculoskeletal System def: "Anatomical system that consists of the muscular and skeletal systems." [] synonym: "Musculo-Skeletal System" EXACT [] xref: UBERON:0002204 is_a: SCDO:0001336 ! from phenotype property_value: SCDO:0000340 http://purl.obolibrary.org/obo/UBERON_0002204 xsd:string is_obsolete: true replaced_by: SCDO:0006301 replaced_by: SCDO:1000268 [Term] id: SCDO:0000781 name: Mutation Carrier Screening def: "The process of identifying carriers/heterozygotes of a genetic mutation that can result in a severe recessive condition. Carrier screening is done using various laboratory techniques." [] comment: This term is very similar to but different (more specific) from the term "Genetic Carrier Screening" in MESH. synonym: "Mutation Carrier Detection" EXACT [] xref: MESH:D006580 is_a: NCIT:C92803 ! Genetic Screening property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Clair Ingram)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology (MESH) or suggest inclusion of description in NCIT." xsd:string property_value: SCDO:0000340 "Alswaidi, F.M. and O'brien, S.J., 2009. Premarital screening programmes for haemoglobinopathies, HIV and hepatitis viruses: review and factors affecting their success. Journal of medical screening, 16(1), pp.22-28." xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000782 name: MYB def: "This gene encodes a protein with three HTH DNA-binding domains that functions as a transcription regulator. This protein plays an essential role in the regulation of hematopoiesis. This gene may be aberrently expressed or rearranged or undergo translocation in leukemias and lymphomas, and is considered to be an oncogene. Alternative splicing results in multiple transcript variants." [] synonym: "MYB Gene" EXACT [] synonym: "MYB Proto-Oncogene, Transcription Factor" EXACT [] synonym: "MYB-HSP1" EXACT [] is_a: SCDO:0000810 ! Non-Globin Gene property_value: SCDO:0000303 "Exists in other ontologies but we have provided a description more relevant to its relationship with SCD." xsd:string property_value: SCDO:0000303 "Link to \"Hereditary Persistence of fetal hemoglobin\"." xsd:string property_value: SCDO:0000340 http://www.ncbi.nlm.nih.gov/gene/4602 xsd:string property_value: SCDO:1000288 "Not relevant to context of sickle cell" xsd:string [Term] id: SCDO:0000787 name: N-terminal Pro-brain Natriuretic Peptide Test def: "A bioassay to determine an individual's level of N-terminal pro-brain natriuretic peptide (NT-proBNP)." [] comment: Equipment needed: Phlebotomy supplies, centrifuge for serum separation, and freezer for sample storage is required. synonym: "NT-proBNP Test" EXACT [] xref: phenX:810501 is_a: SCDO:0000133 ! Blood Test relationship: SCDO:0001297 NCIT:C16564 ! has essential measure Ethnic Group relationship: SCDO:0001297 NCIT:C17049 ! has essential measure Race relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:1000194 CMO:0002876 ! measures N-Terminal Pro-Brain Natriuretic Peptide Level property_value: SCDO:0000303 "Label different from source's \"N-terminal Pro-brain Natriuretic Peptide (NT-proBNP)\"" xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/810501 property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0000789 name: Naloxone def: "A specific opiate antagonist that has no agonist activity. It is a competitive antagonist at mu, delta, and kappa opioid receptors." [] synonym: "1-N-Allyl-14-hydroxynordihydromorphinone" EXACT [] synonym: "17-allyl-3,14-dihydroxy-4,5α-epoxymorphinan-6-one" EXACT [] synonym: "MRZ-2593" EXACT [] xref: MESH:D009270 is_a: CHEBI:35482 ! Opioid relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: SCDO:0000303 "Are the synonyms included relevant to SCD? Should other synonyms from the description source be included?" xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D009270 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000789 xsd:string [Term] id: SCDO:0000791 name: Nasal Decongestants def: "Drugs designed to treat inflammation of the nasal passages, generally the result of an infection (more often than not the common cold) or an allergy related condition, e.g., hay fever. The inflammation involves swelling of the mucous membrane that lines the nasal passages and results in inordinate mucus production. The primary class of nasal decongestants are vasoconstrictor agents. (From PharmAssist, The Family Guide to Health and Medicine, 1993)" [] synonym: "Nasal Vasoconstrictor Agents" EXACT [] synonym: "Nasal Vasoconstrictors" EXACT [] xref: MESH:D014663 is_a: CHEBI:23888 ! Drug is_a: SCDO:0001129 ! Supportive Therapeutics property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D014663 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000791 xsd:string [Term] id: SCDO:0000794 name: obsolete Nephrology def: "'A subspecialty of internal medicine concerned with the anatomy, physiology, and pathology of the kidney. [Curator team: []]'" [] xref: MESH:D009398 is_a: SCDO:0001208 ! deprecated Urinary System property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D009398 xsd:string is_obsolete: true [Term] id: SCDO:0000796 name: Nephrotic Syndrome def: "Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria >3.5 g per 24 hours (in children, >40 mg/m2/hr or PCR >2000 mg/g [>200 mg/mmol] or >300 mg/dl or 3+ on urine dipstick) plus hypoalbuminemia (<3gm/dl) and edema." [] synonym: "Nephrosis" EXACT [] xref: HP:0000100 is_a: HP:0000112 ! Nephropathy relationship: SCDO:0000663 SCDO:0001205 ! diagnosed using tool Urinary Albumin Test relationship: SCDO:0000663 SCDO:0001206 ! diagnosed using tool Urinary Creatinine Test relationship: SCDO:0000664 SCDO:0000055 ! treated with Angiotensin-Converting Enzyme Inhibitors relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors relationship: SCDO:1000220 SCDO:0001207 ! diagnosed using measurement Urinary Protein Measurement relationship: SCDO:1000220 SCDO:0001210 ! diagnosed using measurement Urine Albumin Excretion Rate relationship: SCDO:1000220 SCDO:0001212 ! diagnosed using measurement Urine Albumin-Creatinine Ratio relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000303 "Suggest update to description in the HPO" xsd:string property_value: SCDO:0000340 HP:0000100 property_value: SCDO:0000468 "Nephrotic syndrome related to sickle cell disease typically occurs in adulthood and preceded by lesser degree of proteinuria, other forms may occur at any age with different histologic lesions occurring at different ages." xsd:string property_value: SCDO:0000661 "Variety of causes - in sickle cell disease, most common lesion is focal segmental glomerulosclerosis (FSGS). Other causes may be other forms of primary glomerular disease including membranous nephropathy, minimmal change disease, membranoproliferative glomerulonephritis. Secondary forms may result from diabetes, amyloidosis." xsd:string property_value: SCDO:0000662 "Heavy proteinuria, edema, hyperlipidemia. May also be associated with hypertension and increased risk of venous thrombosis." xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000797 name: Nephrotic Range Proteinuria def: "Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children, or urine protein to creatinine ratio >2000 mg/g [>200 mg/mmol] in children." [] comment: Is diagnosed by assessment of proteinuria (see Proteinuria) by 24hr urine collection or by urine protein-creatinine ratio on spot urine sample [KDIGO 2012]. synonym: "Nephrotic-Range Proteinuria" EXACT [] xref: HP:0012593 is_a: SCDO:0000932 ! Proteinuria relationship: SCDO:0000663 SCDO:0001205 ! diagnosed using tool Urinary Albumin Test relationship: SCDO:0000663 SCDO:0001206 ! diagnosed using tool Urinary Creatinine Test relationship: SCDO:0000664 SCDO:0000055 ! treated with Angiotensin-Converting Enzyme Inhibitors relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors relationship: SCDO:1000220 SCDO:0001207 ! diagnosed using measurement Urinary Protein Measurement relationship: SCDO:1000220 SCDO:0001210 ! diagnosed using measurement Urine Albumin Excretion Rate relationship: SCDO:1000220 SCDO:0001212 ! diagnosed using measurement Urine Albumin-Creatinine Ratio property_value: http://purl.org/dc/elements/1.1/source HP:0012593 property_value: http://purl.org/dc/elements/1.1/source http://www.kdigo.org/clinical_practice_guidelines/pdf/KDIGO-GN-Guideline.pdf property_value: SCDO:0000303 "Suggest update to description in HPO." xsd:string property_value: SCDO:0000340 HP:0012593 property_value: SCDO:0000340 http://www.kdigo.org/clinical_practice_guidelines/pdf/KDIGO-GN-Guideline.pdf property_value: SCDO:0000468 "In sickle cell disease, seen primarily in adult population but may develop in childhood if secondary cause occurs." xsd:string property_value: SCDO:0000661 "Glomerular diseases that lead to protein loss in the urine (See Nephrotic Syndrome)." xsd:string property_value: SCDO:0000662 "Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children, or urine protein to creatinine ratio >2000 mg/g [>200 mg/mmol] in children." xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000798 name: deprecated Nervous System def: "The nervous system is an organ system containing predominantly neuron and glial cells. In bilaterally symmetrical organism, it is arranged in a network of tree-like structures connected to a central body. The main functions of the nervous system are to regulate and control body functions, and to receive sensory input, process this information, and generate behavior." [] synonym: "Neurological System" EXACT [] xref: UBERON:0001016 is_a: SCDO:0001336 ! from phenotype property_value: SCDO:0000340 http://purl.obolibrary.org/obo/UBERON_0001016 xsd:string is_obsolete: true replaced_by: SCDO:0009698 [Term] id: SCDO:0000799 name: Neurocognitive Impairment def: "An invisible complication of sickle cell anemia (SSA) that defies detection by imaging and other routine diagnostic methods. Impaired neurocognitive function in seemingly neurologically intact patients is not related to vasoocclusion or hemolysis. It is detected by neuropsychiatric and neurobehavioral testing and is associated with anemia and age." [] is_a: HP:0012638 ! Abnormal Nervous System Physiology is_a: SCDO:0000895 ! Phenotype of Sickle Cell Disease property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3415156/ xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000801 name: Neurological Rehabilitation def: "Physician-supervised programs designed to rehabilitate people with diseases, trauma, or disorders of the nervous system." [] synonym: "Neurologic Rehabilitation" EXACT [] synonym: "Neurorehabilitation" EXACT [] synonym: "Rehabilitation, Neurologic" EXACT [] synonym: "Rehabilitation, Neurological" EXACT [] xref: MESH:D000066530 is_a: SCDO:0000978 ! Rehabilitation property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D000066530 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000801 xsd:string [Term] id: SCDO:0000803 name: Neonatal Screening for Sickle Cell def: "Testing of neonates to identify those with major sickling diseases." [] synonym: "Newborn Infant Screening for Sickle Cell" EXACT [] is_a: SCDO:0001049 ! Sickle Cell Disease Screening Test property_value: SCDO:0000303 "Link to \"Hb isoelectric focusing\" and \"HPLC fractionation\" ?\n\nRequest inclusion into relevant ontology. Perhaps in SNOMED CT below \"Screening for sickle cell disease\"?" xsd:string property_value: SCDO:0000340 "Newborn Screening for Sickle Cell Disease and Other Hemoglobinopathies. JAMA. 1987;258(9):1205–1209. doi:10.1001/jama.1987.03400090089040" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000804 name: NIH Stroke Scale (NIHSS) def: "A physical assessment of the various symptoms associated with a stroke, consisting of 11 categories. For each category, the test administrator asks the respondent to perform an activity or respond to stimuli. Respondents receive a score for each category based upon their ability to complete the activity or respond to the action. Each score typically ranges from 0 to 3. Each category of the NIHSS is designed to determine the respondent's level of consciousness (LOC), visual, motor, or language ability." [] synonym: "NIH Stroke Scale" EXACT [] synonym: "NIHSS" EXACT [] xref: phenX:820801 is_a: SCDO:0001112 ! Stroke Impact Measure relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age property_value: SCDO:0000340 http://www.phenxtoolkit.org/index.php?pageLink=browse.protocoldetails&id=820801 xsd:string property_value: SCDO:0000479 "PhenX protocol: NIH Stroke Scale (NIHSS) #820801" xsd:string property_value: SCDO:0001222 "18 years and older" xsd:string property_value: SCDO:0001335 "Examiners must be trained to administer, score, and interpret the NIH Stroke Scale (NIHSS). The National Institute of Neurological Disorders and Stroke (NINDS) provides a comprehensive interactive training DVD for the NIHSS. Information and purchasing details for this training are available on the NINDS website." xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000807 name: No-Show Patient def: "Patients who do not turn up for scheduled healthcare appointments." [] synonym: "No Show Patient" EXACT [] synonym: "Patient No Show" EXACT [] synonym: "Patient No-Show" EXACT [] xref: MESH:D000067455 is_a: SCDO:0000869 ! Patient Compliance property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D000067455 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000807 xsd:string [Term] id: SCDO:0000808 name: Nocturia def: "Frequent urination at night that interrupts sleep. It is often associated with outflow obstruction, diabetes mellitus, or bladder inflammation (cystitis)." [] comment: Often occuring as a result of heart insufficiency. synonym: "Nycturia" EXACT [] xref: MESH:D053158 is_a: HP:0000079 ! Abnormality of the Urinary System relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D053158 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000808 xsd:string [Term] id: SCDO:0000809 name: Non Opioid def: "A subclass of analgesic agents that typically do not bind to opioid receptors and are not addictive. Many non-narcotic analgesics are offered as nonprescription drugs." [] synonym: "Non-Narcotic" EXACT [] synonym: "Nonnarcotic" EXACT [] synonym: "Nonnarcotic Analgesic" EXACT [] synonym: "Nonnarcotic Opioid" EXACT [] synonym: "Nonopioid" EXACT [] xref: MESH:D018712 is_a: SCDO:0000050 ! Analgesic relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D018712 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000809 xsd:string [Term] id: SCDO:0000810 name: Non-Globin Gene def: "A gene that does not encode a globin family protein." [] is_a: NCIT:C16612 ! Gene property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Perhaps too specific to the SCDO to be included in other ontologies?" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000811 name: Non-Proliferative Sickle Retinopathy def: "Sickle retinopathy caused by direct damage or remodeling of the small blood vessels supplying the retina secondary to vaso-occlusion and local ischemia." [] is_a: SCDO:0001067 ! Sickle Retinopathy relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into HPO below \"Retinopathy/Sickle Retinopathy\"." xsd:string property_value: SCDO:0000340 http://en.wikipedia.org/wiki/Retinopathy xsd:string property_value: SCDO:0000340 http://eyewiki.aao.org/Sickle_Cell_Retinopathy xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000812 name: Non-specific Acute Lower Respiratory Tract Episode def: "Includes acute respiratory episodes with lower respiratory tract signs that do not meet the criteria for other diagnoses. May include episodes which would have been diagnosed as ACS were radiographic facilities available." [] is_a: HP:0002086 ! Abnormality of the Respiratory System relationship: SCDO:0000663 NCIT:C18772 ! diagnosed using tool Personal Medical History relationship: SCDO:0000663 SCDO:0000898 ! diagnosed using tool Physical Examination relationship: SCDO:0000664 NCIT:C258 ! treated with Antibiotic relationship: SCDO:0000664 SCDO:0000147 ! treated with Blood Transfusion relationship: SCDO:0000664 SCDO:0000576 ! treated with Hydration Therapy relationship: SCDO:0000664 SCDO:0000903 ! treated with Physiotherapy property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology\n\nProvide source for additional info." xsd:string property_value: SCDO:0000661 "Several possible etiologies including infections by various classes of microorganisms, pulmonary fat emobolism, infarction and pulmonary embolism." xsd:string property_value: SCDO:0000662 "Acute onset of respiratory symptoms and signs including cough, coryza +/- fever." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000818 name: obsolete Observational Study def: "'A work that reports on the results of a clinical study in which participants may receive diagnostic, therapeutic, or other types of interventions, but the investigator does not assign participants to specific interventions (as in an interventional study). [Curator team: []]'" [] xref: MESH:D064888 is_a: SCDO:0000252 ! obsolete Clinical Study property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D064888 xsd:string is_obsolete: true [Term] id: SCDO:0000819 name: Observational Studies as Topic def: "Works about clinical studies in which participants may receive diagnostic, therapeutic, or other types of interventions, but the investigator does not assign participants to specific interventions (as in an interventional study)." [] xref: MESH:D064887 is_a: SCDO:0000253 ! Clinical Studies as Topic property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D064887 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000819 xsd:string [Term] id: SCDO:0000822 name: Occupational Therapy def: "Skilled treatment that helps individuals achieve independence in all facets of their lives. It assists in the development of skills needed for independent living." [] synonym: "Occupational Therapies" EXACT [] synonym: "Therapies, Occupational" EXACT [] synonym: "Therapy, Occupational" EXACT [] xref: MESH:D009788 is_a: SCDO:0000978 ! Rehabilitation relationship: SCDO:1000018 DOID:1188 ! treats Mononeuropathy relationship: SCDO:1000018 HP:0001271 ! treats Polyneuropathy relationship: SCDO:1000018 HP:0001342 ! treats Cerebral Hemorrhage relationship: SCDO:1000018 HP:0001370 ! treats Rheumatoid Arthritis relationship: SCDO:1000018 HP:0010628 ! treats Facial Nerve Palsy relationship: SCDO:1000018 NCIT:C26702 ! treats Ataxia relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D009788 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000822 xsd:string [Term] id: SCDO:0000828 name: Oliguria def: "Low output of urine, defined as an output below 5mL/kg/hr over 6 hours." [] synonym: "Reduced Urine Output" EXACT [] xref: HP:0100520 is_a: HP:0000077 ! Abnormality of the Kidney relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors relationship: SCDO:1000220 CMO:0000256 ! diagnosed using measurement Urine Measurement relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000303 "Suggest update to description in HPO" xsd:string property_value: SCDO:0000340 HP:0100520 property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000833 name: Ophthalmologic Surgical Procedure def: "Surgery performed on the eye or any of its parts." [] synonym: "Ophthalmologic Surgical Procedures" EXACT [] synonym: "Ophthalmological Surgical Procedure" EXACT [] xref: MESH:D013508 is_a: SCDO:0001133 ! Symptomatic Therapeutics property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D013508 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000833 xsd:string [Term] id: SCDO:0000834 name: Ophthalmoscope def: "Device for examining the interior of the eye, permitting the clear visualization of the structures of the eye at any depth." [] synonym: "Funduscope" EXACT [] synonym: "Ophthalmoscopes" EXACT [] xref: MESH:D019721 is_a: SCDO:0000376 ! Diagnostic Device relationship: SCDO:1000191 NCIT:C101217 ! used by diagnostic tool Retinal Examination relationship: SCDO:1000191 SCDO:0000835 ! used by diagnostic tool Ophthalmoscopy property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D019721 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000834 xsd:string [Term] id: SCDO:0000835 name: Ophthalmoscopy def: "Examination of the interior of the eye with an ophthalmoscope." [] xref: MESH:D009887 is_a: NCIT:C38060 ! Eye Examination relationship: SCDO:1000192 SCDO:0000834 ! uses diagnostic device Ophthalmoscope property_value: SCDO:0000303 "Include \"Direct Ophthalmoscopy\" and \"Indirect Ophthalmoscopy\" from NCIT as sub-classes? (Direct could be used to diagnose \"Conjunctival Comma Sign\")" xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D009887 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000835 xsd:string [Term] id: SCDO:0000839 name: Osteomalacia def: "A general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets." [] synonym: "Adult Rickets" EXACT [] xref: HP:0002749 is_a: HP:0000924 ! Abnormality of the Skeletal System relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada property_value: SCDO:0000303 "Suggest update to description in HPO. (remove \"Osteomalacia\" from start of definitiion)\n\nProvide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0002749 xsd:string property_value: SCDO:0000661 "Abnormal vitamin D metabolism: 1) Deficient intake or absorption;2) Defective 25-hydroxylation due to biliary cirrhosis- alcoholic cirrhosis- anticonvulsants; 3) Loss of vitamin D binding protein- nephrotic syndrome; 4) Defective 1-alpha 25-hydroxylation: Hypoparathyroidism, Renal failure, Vitamin D-dependent rickets type 1; 5) Defective target organ response to calcitriol: Vitamin D-dependent rickets, type II (Hereditary vitamin D resistant rickets, HVDRR). Mineralization defects: 1) Abnormal matrix: Chronic renal failure, Osteogenesis imperfecta, Fibrogenesis imperfecta, Axial osteomalacia; 2) Enzyme deficiency: Hypophosphatasia; 3) Mineralization inhibitors: bisphosphonates, Aluminum, fluoride. Phosphate deficiency: 1) Decreased intake ( antiacids); 2) Impaired renal reabsorption, that can be Primary defects = X-linked hypophosphatemic rickets (vitamin D resistant rickets, VDRR), Hereditary hypophosphatemic rickets with hypercalciuria, Sporadic acquired hypophosphatemic rickets, Fanconi syndrome, Wilson disease, cystinosis, multiple myeloma; or can be Secondary defects = 2) Secondary hyperparathyroidism (renal tubular acidosis, type 1 and disorders of vitamin D metabolism), 2) Oncogenic osteomalacia." xsd:string property_value: SCDO:0000662 "May be asymptomatic and present radiologically as osteopenia. Or it may present as diffuse bone and joint pain, muscle weakness, and difficulty walking, Fractures, Muscle spasms, cramps." xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000840 name: Osteomyelitis def: "An inflammatory process accompanied by bone destruction and caused by an infecting microorganism." [] comment: Osteomyelitis can be acute or chronic and can be caused by a variety of microbial agents. synonym: "Bone Infection" EXACT [] xref: HP:0002754 is_a: HP:0000924 ! Abnormality of the Skeletal System is_a: IDO:0000586 ! Infection relationship: SCDO:0000664 NCIT:C258 ! treated with Antibiotic relationship: SCDO:0000664 SCDO:1000017 ! treated with Surgery relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000303 "Suggest update to description in HPO (remove \"Osteomyelitis is\" from the start of the definition.\n\nProvide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0002754 xsd:string property_value: SCDO:0000661 "Bacteria, blunt trauma, fracture, bone surgery." xsd:string property_value: SCDO:0000662 "Tenderness, redness, and warmth in the area of infection, fever, fatigue, bone pain, swelling around the affected bone, lost range of motion." xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000849 name: Arterial Oxygen Saturation def: "The amount of oxygen bound to hemoglobin in arterial blood expressed as a percentage of the maximal binding capacity, as determined by an arterial blood gas test." [] synonym: "Arterial HbO2" EXACT [] synonym: "Arterial Oxyhemoglobin Saturation" EXACT [] synonym: "Arterial SaO2" EXACT [] synonym: "Arterial Sats" EXACT [] synonym: "HBOXHGB" EXACT [] synonym: "Oxygen Saturation of Arterial Blood" EXACT [] synonym: "Oxyhemoglobin to Total Hemoglobin Ratio Measurement" EXACT [] synonym: "Oxyhemoglobin/Total Hemoglobin" EXACT [] is_a: CMO:0000225 ! Arterial Blood Gas Measurement is_a: CMO:0001324 ! Oxygen Saturation relationship: SCDO:1000190 SCDO:0000071 ! obtained via diagnostic tool Arterial Blood Gas Test relationship: SCDO:1000772 SCDO:1000808 ! has possible finding Decreased Arterial Oxygen Saturation relationship: SCDO:1000772 SCDO:1000813 ! has possible finding Normal Arterial Oxygen Saturation property_value: SCDO:0000303 "Request inclusion into CMO below \"Oxygen Saturation\"" xsd:string property_value: SCDO:0000340 CMO:0001324 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000851 name: Pain def: "An unpleasant sensory and emotional experience triggered in the nervous system, associated with actual or potential tissue damage, or described in terms of such damage." [] xref: HP:0012531 is_a: HP:0025142 ! Constitutional Symptom relationship: SCDO:0000664 SCDO:0001167 ! treated with Transcutaneous Electrical Nerve Stimulation relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000303 "Suggest update to description in HPO.\n\nProvide source for additional info." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0012531 xsd:string property_value: SCDO:0000661 "Somatic pain is caused by injury to skin, muscles, bone, joint, and connective tissues. Deep somatic pain is usually described as dull or aching, and localized in one area. Visceral pain refers to pain that originates from ongoing injury to the internal organs or the tissues that support them. Somatic pain from injury to the skin or the tissues just below it often is sharper and may have a burning or pricking quality." xsd:string property_value: SCDO:0000662 "Nociceptive pain is believed to be caused by the ongoing activation of pain receptors in either the surface or deep tissues of the body. There are two types: \"somatic\" pain and \"visceral\" pain. Neuropathic pain is believed to be caused by changes in the nervous system that sustain pain even after an injury heals. \"Psychogenic\" pain is a simple label for all kinds of pain that can be best explained by psychological problems." xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000852 name: Pain Status def: "The impact of sickle cell pain on the daily activities of patients. The degree to which pain interferes with their quality of life. This pain is related to the unique features of Sickle Cell Disease." [] synonym: "Pain Burden" EXACT [] synonym: "Pain Disability" EXACT [] synonym: "Pain Impact" EXACT [] synonym: "Pain Interference" EXACT [] is_a: SCDO:0000900 ! Physical Functioning property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000864 name: Palpation of Liver def: "A method of determining the shape and consistency of the liver by feeling with the fingers or hands." [] synonym: "Liver Palpation" EXACT [] is_a: SCDO:0000694 ! Liver Examination property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000866 name: Parasite def: "Invertebrate organisms that live on or in another organism (the host), and benefit at the expense of the other. Traditionally excluded from definition of parasites are pathogenic bacteria; fungi; viruses; and plants; though they may live parasitically." [] synonym: "Parasites" EXACT [] xref: MESH:D010271 is_a: OBI:0000925 ! Infectious Agent property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D010271 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000866 xsd:string [Term] id: SCDO:0000869 name: Patient Compliance def: "Voluntary cooperation of the patient in following a prescribed regimen." [] synonym: "Adherence" EXACT [] synonym: "Patient Adherence" EXACT [] synonym: "Patient Cooperation" EXACT [] xref: MESH:D010349 is_a: SCDO:0000487 ! Health Behaviour is_a: SCDO:0000746 ! Mental Health relationship: SCDO:1000015 NCIT:C39547 ! modifies Treatment Efficacy property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D010349 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000869 xsd:string [Term] id: SCDO:0000873 name: Pediatric Migraine Disability Assessment def: "A headache disability questionnaire which is completed by the patient and his/her parent and is reviewed with the clinician or study staff. It captures the impact of headaches on school performance (three questions), activities at home (one question on homework or chores), and social and/or sports functions (two questions). It is scored by summing the answers across the six questions. If a range is provided as an answer, either use the high end of the range or prompt for a single answer. The frequency and severity are not scored but can be used for clinical reference." [] synonym: "Pediatric Migraine Questionnaire" EXACT [] synonym: "PedMIDAS" EXACT [] xref: phenX:130502 is_a: SCDO:0000760 ! Migraine Questionnaire property_value: SCDO:0000303 "Suggest update to label in PhenX (from \"Migraine - Children\") as we have done." xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/130502 property_value: SCDO:0000479 "PhenX protocol: Migraine - Children #130502" xsd:string property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0000874 name: Pediatric NIH Stroke Scale (PedNIHSS) def: "A physical assessment of the various symptoms associated with a stroke, consisting of eleven categories. The PedNIHSS was developed by a panel of pediatric and adult stroke experts and is a modification of the adult NIH stroke scale (NIHSS). Modifications were made to allow individuals age 18 or younger to be assessed and are identified in the PedNIHSS by bold italic text." [] comment: For each category of the PedNIHSS, the examiner asks the respondent to perform an activity or respond to an action by the provider. Respondents receive a score for each category based upon their ability to complete the activity or respond to the action. Each score typically ranges from 0 to 3. Each category of the PedNIHSS is designed to determine the respondent’s level of consciousness (LOC), visual, motor, or language ability. synonym: "Pediatric NIH Stroke Scale" EXACT [] synonym: "PedNIHSS" EXACT [] xref: phenX:820802 is_a: SCDO:0001112 ! Stroke Impact Measure relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age property_value: SCDO:0000340 http://www.phenxtoolkit.org/index.php?pageLink=browse.protocoldetails&id=820802 xsd:string property_value: SCDO:0000479 "PhenX protocol: Pediatric NIH Stroke Scale (PedNIHSS) #820802" xsd:string property_value: SCDO:0001222 "2-18 years old" xsd:string property_value: SCDO:0001335 "Examiners must be trained to administer, score, and interpret the NIHSS. The National Institute of Neurological Disorders and Stroke (NINDS) provides a comprehensive interactive training DVD for the National Institutes of Health Stroke Scale (NIHSS). Information and purchasing details for this training is available on the NINDS website." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000876 name: Pediatric School Performance Measure def: "A questionnaire to assess educational performance and learning accommodations." [] xref: phenX:840200 is_a: SCDO:0000951 ! Quality of Life and Care Measure is_a: SCDO:1000297 ! Quality of Life and Care Diagnostic Instrument relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age property_value: http://purl.org/dc/elements/1.1/source https://www.phenxtoolkit.org/protocols/view/840201 property_value: SCDO:0000303 "Suggest update to label in PhenX as we have done." xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/PHENX?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FphenX%2F840200 property_value: SCDO:0000479 "PhenX protocol: Pediatric School Performance #840201" xsd:string property_value: SCDO:0000486 "Many rare genetic conditions (e.g., sickle cell disease) and other diseases are associated with developmental delays, damage to the central nervous system, and frequent absences from school due to illness, all of which can impact school performance." xsd:string property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0000877 name: PedsQL Multidimensional Fatigue Scale def: "A generic symptom-specific instrument to measure fatigue across pediatric populations." [] comment: The 18-item PedsQL Multidimensional Fatigue Scale encompasses three domains: 1) General Fatigue, 2) Sleep/Rest Fatigue and 3) Cognitive Fatigue. The format, instructions, Likert response scale, and scoring method are identical to the PedsQL 4.0 Generic Core Scales [16], with higher scores indicating better HRQOL (lower fatigue symptoms). The instructions ask how much of a problem each item has been during the past one month. is_a: NCIT:C78652 ! Pediatric Quality of Life Inventory (PedsQL) property_value: SCDO:0000303 "Request inclusion into NCIT below \"Pediatric Quality of Life Inventory\"." xsd:string property_value: SCDO:0000340 "Panepinto JA, Torres S, Bendo CB, McCavit TL, Dinu B, Sherman-Bien S, Bemrich-Stolz C, Varni JW (2014). PedsQL Multidimensional Fatigue Scale in sickle cell disease: feasibility, reliability, and validity. Pediatric Blood & Cancer, 61,171-177" xsd:string property_value: SCDO:0000481 "Self; Proxy (Parent report)" xsd:string property_value: SCDO:0000482 "Clinic patients" xsd:string property_value: SCDO:0001033 "Validation study in SCD" xsd:string property_value: SCDO:0001222 "Children 2 - 18 (child report ages 5 - 18 years; parent proxy report of children ages 2 - 18 years)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000878 name: PedsQL Sickle Cell Disease Module def: "The PedsQL Sickle Cell Disease Module includes 43 items from 9 subscales: Pain and Hurt (9 items); Pain Impact (10 items); Pain Management and Control (2 items); Worry (5 items); Worry II (2 items); Emotions (2 items); Treatment (7 items); Communication I (3 items); and Communication II (3 items). For all ages, each item asks how much of a problem there has been in the past month. There are self- or parent-reported forms for ages 8 to 18, and responses are scored on a 5-point Likert-style scale (0 = never a problem; 1 = almost never a problem; 2 = sometimes a problem; 3 = often a problem; 4 = almost always a problem). Forms for children ages 5 to 7 are interviewer-administered, and responses include a 3-point Likert-style scale (0 = not at all a problem; 2 = sometimes a problem; 4 = a lot of a problem). Items are reversed-scored and converted to a 100-point scale (0 = 100, 1 = 75, 2 = 50, 3 = 25, 4 = 0) with higher scores indicating better quality of life. Scores for individual subscales are the sum of items divided by the total number or items answered. The total score for the PedsQL Sickle Cell Disease Module is the sum of the items divided by the number of items answered." [] is_a: NCIT:C78652 ! Pediatric Quality of Life Inventory (PedsQL) relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age property_value: http://purl.org/dc/elements/1.1/source "Panepinto JA, Torres S, Bendo CB, McCavit TL, Dinu B, Sherman-Bien S, Bemrich-Stolz C, Varni JW (2013).PedsQL sickle cell disease module: feasibility, reliability, and validity.Pediatric Blood & Cancer, 60,1338-1344." xsd:string property_value: SCDO:0000303 "Request inclusion into NCIT below \"Pediatric Quality of Life Inventory\"." xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/820202 property_value: SCDO:0000479 "PhenX protocol: PedsQL Sickle Cell Disease Module #820202" xsd:string property_value: SCDO:0000481 "Self; Proxy (Parent report)" xsd:string property_value: SCDO:0000482 "Clinic Patients (Children with SCD)" xsd:string property_value: SCDO:0001222 "Ages 2 to 18" xsd:string property_value: SCDO:0001335 "No. The PedsQ Sickle Cell Disease Module is a proprietary instrument and administration requires permission and a license from the MAPI Research Trust." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000881 name: Penicillin Prophylaxis def: "Use of penicillin for the prevention of infections with penicillin-susceptible organisms, e.g. Streptococcus pneumoniae." [] is_a: NCIT:C51993 ! Antibiotic Prophylaxis relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000882 name: Percussion of Liver def: "A method of determining the size of the liver by tapping on the surface of the abdomen." [] is_a: SCDO:0000694 ! Liver Examination property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "To be requested for inclusion into SNOMED CT, below \"Diagnostic procedure on liver\"." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000885 name: Peripheral Oxygen Saturation def: "An estimation of the oxygen saturation level usually measured with a pulse oximeter device." [] synonym: "Oxygen Saturation of Peripheral Blood" EXACT [] synonym: "Peripheral SaO2" EXACT [] synonym: "Peripheral Sats" EXACT [] synonym: "Peripheral HbO2" EXACT [] synonym: "Peripheral Oxyhemoglobin Saturation" EXACT [] synonym: "SpO2" EXACT [] xref: SNOMEDCT:431314004 is_a: CMO:0001324 ! Oxygen Saturation relationship: SCDO:1000190 SCDO:0000945 ! obtained via diagnostic tool Pulse Oximetry (Rest) relationship: SCDO:1000193 SCDO:0000944 ! output of diagnostic device Pulse Oximeter property_value: SCDO:0000303 "Request inclusion into CMO below \"Oxygen Saturation\"" xsd:string property_value: SCDO:0000340 http://en.wikipedia.org/wiki/Oxygen_saturation_(medicine) xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000895 name: Phenotype of Sickle Cell Disease def: "A (combination of) quality(ies) of some or all sickle cell disease individuals, determined by the interaction of the genetic make-up of these individuals (with regard to sickle cell disease) and their environment." [] xref: OGMS:0000023 is_a: HP:0000118 ! Abnormal Phenotype is_a: OGMS:0000028 ! Disease Phenotype relationship: SCDO:1000005 HP:0011904 ! modified by Increased Hemoglobin F relationship: SCDO:1000005 SCDO:0000042 ! modified by Alpha Thalassemia relationship: SCDO:1000005 SCDO:0000580 ! modified by Hydroxyurea relationship: SCDO:1000005 SCDO:0001386 ! modified by Alpha-Globin Locus Deletion relationship: SCDO:1000005 SCDO:0008713 ! modified by Sickle Cell Anemia Associated with Alpha Thalassemia relationship: SCDO:1000005 SCDO:1000060 ! modified by SCD Molecular Phenotype relationship: SCDO:1000005 SCDO:1000061 ! modified by Altered Level of Normal Hemoglobin in SCD relationship: SCDO:1000005 SCDO:1000707 ! modified by Hemoglobin F Level relationship: SCDO:1000015 SCDO:0000952 ! modifies Quality of Life in Sickle Cell Disease Measure relationship: SCDO:1000202 SCDO:1000060 ! caused by SCD Molecular Phenotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Probably too specific to warrant inclusion into anther ontology.\n\nMake sure complications as described in \"Definitions of the Phenotypic Manifestations of Sickle Cell Disease\" (Ballas, 2010) are included in Phenotype." xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/OGMS?p=classes&conceptid=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FOGMS_0000023 xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000896 name: Physical Detection Method def: "The physical method (technology) used to measure / readout the effect caused by a perturbagen in the assay environment." [] xref: BAO:0000035 is_a: SCDO:0000082 ! Diagnostic Technique, Method, Test or Assay property_value: SCDO:0000340 BAO?p=classes&conceptid=http%3A%2F%2Fwww.bioassayontology.org%2Fbao%23BAO:0000035 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000896 xsd:string [Term] id: SCDO:0000897 name: Physical Environment def: "The part of the human environment that consists of purely physical factors, including the natural environment (such as soil, climate, water supply) and the built environment." [] is_a: SCDO:0000435 ! Environmental Disease Modifier property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "Physical Environment. Merriam-Webster.com. Merriam-Webster, n.d. Web. 9 Nov. 2016." xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000898 name: Physical Examination def: "Systematic and thorough inspection of the patient for physical signs of disease or abnormality." [] synonym: "Physical Assessment" EXACT [] xref: MESH:D010808 is_a: SCDO:0000082 ! Diagnostic Technique, Method, Test or Assay property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D010808 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000898 xsd:string [Term] id: SCDO:0000900 name: Physical Functioning def: "One's ability to carry out activities that require physical actions, ranging from self-care (activities of daily living) to more complex activities that require a combination of skills, often within a social context. Physical function is inclusive of the term disability and includes the full spectrum of physical functioning from severe impairment to exceptional physical abilities." [] synonym: "Mobility" EXACT [] synonym: "Motor Function" EXACT [] synonym: "Physical Function" EXACT [] synonym: "Physical Health" EXACT [] is_a: NCIT:C17047 ! Quality of Life relationship: SCDO:1000015 NCIT:C17047 ! modifies Quality of Life property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Determine and specify the description source. -- -- Include a term to do with level of independence?" xsd:string property_value: SCDO:0000340 https://www.gem-measures.org/Public/MeasureDetail.aspx?mid=2177&cat=2 property_value: SCDO:1000288 "Few but definitions not specific enough" xsd:string [Term] id: SCDO:0000902 name: Physiological Assay def: "An organismal assay designed to capture information pertaining to the organic processes and phenomena of an organism or any of its parts or of a particular bodily process." [] xref: ERO:0001292 is_a: SCDO:0000082 ! Diagnostic Technique, Method, Test or Assay property_value: SCDO:0000340 http://purl.obolibrary.org/obo/ERO_0001292 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000902 xsd:string [Term] id: SCDO:0000903 name: Physiotherapy def: "A therapeutic intervention that remediates impairments and promotes mobility, function, and quality of life through examination, diagnosis, and physical intervention." [] synonym: "Physical Therapy" EXACT [] xref: OAE:0002476 is_a: SCDO:0000978 ! Rehabilitation relationship: SCDO:1000018 DOID:1188 ! treats Mononeuropathy relationship: SCDO:1000018 DOID:1584 ! treats Acute Chest Syndrome relationship: SCDO:1000018 HP:0001271 ! treats Polyneuropathy relationship: SCDO:1000018 HP:0001342 ! treats Cerebral Hemorrhage relationship: SCDO:1000018 HP:0001369 ! treats Arthritis relationship: SCDO:1000018 HP:0001370 ! treats Rheumatoid Arthritis relationship: SCDO:1000018 HP:0002341 ! treats Cervical Cord Compression relationship: SCDO:1000018 HP:0002650 ! treats Scoliosis relationship: SCDO:1000018 HP:0003302 ! treats Spondylolisthesis relationship: SCDO:1000018 HP:0010628 ! treats Facial Nerve Palsy relationship: SCDO:1000018 HP:0011868 ! treats Sciatica relationship: SCDO:1000018 HP:0100774 ! treats Hyperostosis relationship: SCDO:1000018 NCIT:C26702 ! treats Ataxia relationship: SCDO:1000018 SCDO:0000032 ! treats Agenesis of Corpus Callosum relationship: SCDO:1000018 SCDO:0000812 ! treats Non-specific Acute Lower Respiratory Tract Episode relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care property_value: SCDO:0000340 http://purl.obolibrary.org/obo/OAE_0002476 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000903 xsd:string [Term] id: SCDO:0000905 name: Pilot Projects def: "Small-scale tests of methods and procedures to be used on a larger scale if the pilot study demonstrates that these methods and procedures can work." [] synonym: "Pilot Study" EXACT [] xref: MESH:D010865 is_a: SCDO:0300004 ! Epidemiologic Study Characteristics property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D010865 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000905 xsd:string [Term] id: SCDO:0000908 name: Pneumatic Retinopexy def: "A nonincisional procedure that has become a well-accepted alternative to scleral buckling and vitrectomy for the repair of selected cases of rhegmatogenous retinal detachment." [] is_a: SCDO:0000833 ! Ophthalmologic Surgical Procedure property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://emedicine.medscape.com/article/1844217-overview xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000913 name: Polymerase Chain Reaction def: "The process in which a DNA polymerase is used to amplify a piece of DNA by in vitro enzymatic replication. As the process progresses, the DNA thus generated is itself used as a template for replication. This sets in motion a chain reaction in which the DNA template is exponentially amplified." [] synonym: "PCR" EXACT [] xref: OBI:0000415 is_a: SCDO:0000448 ! Genetic Technique property_value: SCDO:0000303 "Suggest update to description in OBI" xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/OBI_0000415 xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000917 name: Pragmatic Clinical Trial def: "'Works about randomized clinical trials that compare interventions in clinical settings and which look at a range of effectiveness outcomes and impacts. [Curator team: []]'" [] xref: MESH:D065007 is_a: SCDO:0000965 ! obsolete Randomized Controlled Trial property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D065007 xsd:string is_obsolete: true [Term] id: SCDO:0000919 name: Prenatal Screening for Sickle Cell def: "Prenatal detection of a fetus affected with Sickle Cell Disease using appropriate laboratory techniques. Detection of affected fetuses allows couples to make informed decisions regarding the pregnancy." [] is_a: SCDO:0001049 ! Sickle Cell Disease Screening Test property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Clair Ingram)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology. Perhaps in SNOMED CT below \"Screening for sickle cell disease\"." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000922 name: Preventative Therapeutics def: "Activities to prevent Sickle Cell Disease or its complications." [] synonym: "Preventive Therapeutics" EXACT [] synonym: "Prophylactic Therapeutics" EXACT [] is_a: SCDO:0001152 ! Therapeutics property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Probably too specific to SCD to be included in other ontologies.\n\nConsider making the description more generic (e.g. \"Activities to prevent a disease or its complications.\")" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000923 name: Priapism def: "A prolonged painful erection that may last hours and is not associated with sexual activity. It is seen in patients with sickle cell anemia, advanced malignancy, spinal trauma, and certain drug treatments." [] xref: MESH:D011317 is_a: HP:0000080 ! Abnormality of Reproductive System Physiology is_a: SCDO:0000016 ! Acute Complications of Sickle Cell Disease is_a: SCDO:0000954 ! Quality of Life Related SCD Symptoms and Complications relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D011317 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000923 xsd:string [Term] id: SCDO:0000924 name: Primary Healthcare def: "Care which provides integrated, accessible health care services by clinicians who are accountable for addressing a large majority of personal health care needs, developing a sustained partnership with patients, and practicing in the context of family and community." [] synonym: "Primary Care" EXACT [] synonym: "Primary Health Care" EXACT [] xref: MESH:D011320 is_a: SCDO:0000494 ! Health System property_value: SCDO:0000303 "This term is not below Quality of Health Care in MESH, but below \"Health Services Administration\" ---> \"Patient Care Management\" ---> \"Comprehensive Health Care" xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D011320 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000924 xsd:string [Term] id: SCDO:0000925 name: Proguanil def: "A biguanide compound which metabolizes in the body to form cycloguanil, an anti-malaria agent. Cycloguanil stops the malaria parasite, Plasmodium falciparum and Plasmodium vivax, from reproducing once it is in the red blood cells. It does this by inhibiting the enzyme, dihydrofolate reductase, which is involved in the reproduction of the parasite." [] synonym: "1-(P-Chlorophenyl)-5-isopropylbiguanide" EXACT [] synonym: "Chlorguanid" EXACT [] synonym: "Chlorguanide" EXACT [] synonym: "Chloroguanide" EXACT [] synonym: "N-(4-Chlorophenyl)-n'-(isopropyl)-imidodicarbonimidic diamide" EXACT [] xref: MESH:D002727 is_a: IDOMAL:0000122 ! Malaria Chemoprophylaxis relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania property_value: SCDO:0000303 "Suggest update to description in MESH" xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D002727 property_value: SCDO:0000340 https://www.drugbank.ca/drugs/DB01131 property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000926 name: Proliferative Sickle Retinopathy def: "Sickle retinopathy that involves the upregulation of vascular growth factors due to chronic changes of local hypoxia and ischemia." [] synonym: "Retinopathy due to SCD Characterized by Neovascularization" EXACT [] synonym: "Sickle Cell Proliferative Retinopathy" EXACT [] is_a: SCDO:0001067 ! Sickle Retinopathy relationship: SCDO:0000663 NCIT:C101217 ! diagnosed using tool Retinal Examination relationship: SCDO:0000663 NCIT:C75583 ! diagnosed using tool Slit-Lamp Examination relationship: SCDO:0000663 SCDO:0001327 ! diagnosed using tool Fluorescein Angiography relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into HPO below \"Retinopathy/Sickle Retinopathy\"." xsd:string property_value: SCDO:0000340 http://eyewiki.aao.org/Sickle_Cell_Retinopathy xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000927 name: PROMIS Adult Profile 29 def: "This protocol includes 29 self-administered quality of life-type questions from the PROMIS Profile 29 for adults. The quality of life questions include physical function, anxiety, depression, fatigue, sleep disturbance, ability to participate in social roles and activities, and pain intensity over the past 7 days. Each question, except for the pain intensity question, is measured on a 5-point scale." [] synonym: "PROMIS 25 Profie v2.0" EXACT [] is_a: NCIT:C102988 ! Patient Reported Outcomes Measurement Information System (PROMIS) relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age property_value: SCDO:0000303 "Suggest update to label in PhenX as we have done." xsd:string property_value: SCDO:0000340 http://www.phenxtoolkit.org/index.php?pageLink=browse.protocoldetails&id=221302 xsd:string property_value: SCDO:0000479 "PhenX protocol: Quality of Life - Adult #221302" xsd:string property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0000928 name: PROMIS Pediatric Profile 25 def: "This protocol includes 25 quality of life-type questions relating to physical function mobility, anxiety, depressive symptoms, fatigue, peer relationships, pain interference, and pain intensity over the past 7 days." [] synonym: "PROMIS 25" EXACT [] synonym: "PROMIS 25 Profie" EXACT [] is_a: NCIT:C102988 ! Patient Reported Outcomes Measurement Information System (PROMIS) relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age property_value: SCDO:0000303 "Suggest update to label in PhenX as we have done." xsd:string property_value: SCDO:0000340 http://www.phenxtoolkit.org/index.php?pageLink=browse.protocoldetails&id=221301 xsd:string property_value: SCDO:0000479 "PhenX protocol: Quality of Life - Pediatric #221301" xsd:string property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0000930 name: Infection Prophylaxis def: "A planned process that has the objective to reduce the risk of acquiring one or more infections." [] synonym: "Disease Prevention" EXACT [] is_a: CHEBI:23888 ! Drug is_a: SCDO:0000922 ! Preventative Therapeutics relationship: SCDO:1000018 MP:0002412 ! treats Increased Susceptibility to Bacterial Infection relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: http://purl.org/dc/elements/1.1/source http://purl.obolibrary.org/obo/OGMS_0000103 xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0000931 name: Prospective Studies def: "Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group." [] synonym: "Prospective Study" EXACT [] xref: MESH:D011446 is_a: SCDO:0000263 ! Cohort Studies property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D011446 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000931 xsd:string [Term] id: SCDO:0000932 name: Proteinuria def: "Increased amounts of any protein (including albumin) in the urine - typically more than 300mg in a 24hr period." [] comment: Screening Recommendations: Screen all individuals with SCD, beginning by age 10, for proteinuria. If the result is negative, repeat screening annually. If the result is positive, perform a first morning void urine albumin-creatinine ratio and if abnormal, consult with or refer to a renal specialist. synonym: "High Urine Protein Levels" EXACT [] xref: HP:0000093 is_a: HP:0003110 ! Abnormal Urine Homeostasis relationship: SCDO:0000664 SCDO:0000055 ! treated with Angiotensin-Converting Enzyme Inhibitors relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors relationship: SCDO:1000220 CMO:0000057 ! diagnosed using measurement Serum Creatinine Level relationship: SCDO:1000220 SCDO:0001207 ! diagnosed using measurement Urinary Protein Measurement relationship: SCDO:1000220 SCDO:0001209 ! diagnosed using measurement Urine Albumin Concentration relationship: SCDO:1000220 SCDO:0001210 ! diagnosed using measurement Urine Albumin Excretion Rate relationship: SCDO:1000220 SCDO:0001212 ! diagnosed using measurement Urine Albumin-Creatinine Ratio relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives property_value: http://purl.org/dc/elements/1.1/source http://www.nhlbi.nih.gov/health-pro/guidelines/sickle-cell-disease-guidelines property_value: SCDO:0000303 "Suggest update to description in HPO." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0000093 xsd:string property_value: SCDO:0000468 "In sickle cell disease, overt proteinuria (distinguised from albuminuria) may be noted in childhood although less common (4.5% in ages 2-21 [Wigfall 2000] v. 26% in adults [Guasch 2006])." xsd:string property_value: SCDO:0000472 "At most severe form - lead to nephrotic syndrome." xsd:string property_value: SCDO:0000661 "Caused by a variety of kidney diseases, including sickle cell disease, diabetes, glomerular disease, arteriosclerosis." xsd:string property_value: SCDO:0000662 "Elevated amounts of protein in the urine - typically greater than 300mg in 24 hrs." xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000934 name: Provider Attitudes Toward Patients with Sickle Cell Disease def: "This is a 17-item scale, separated into 4 subscales with good psychometric properties. Negative Attitudes Scale comprises six items grouped together (Mean=36.5, SD=21.9, Potential range = 0 to 100). Higher scores on this scale indicate an endorsement of more negative views about SCD patients. Positive Attitudes Scale comprises four items grouped together (Mean=45.7, SD=24.3, Potential range = 0 to 100). Higher scores indicate an endorsement of more positive views about SCD patients. Concern Raising Behaviors Scale comprises four items grouped together (Mean = 53.7, SD = 22.0, Potential range = 0 to 100). Higher scores indicate greater endorsement of the belief that certain SCD patient behaviors raise clinician concern that the patient is inappropriately drug-seeking. Red-Flag Behaviors Scale comprises three items grouped together (Mean = 58.7, SD = 22.7, Potential range = 0 to 100). Higher scores on this scale indicate greater endorsement of the belief that certain SCD patient behaviors raise clinician concern about patient drug-seeking." [] is_a: SCDO:0000947 ! Quality of Care Measure property_value: http://purl.org/dc/elements/1.1/source "Haywood, Jr., C., Lanzkron, S., Hughes, MD3, Brown, R., Massa, M., Ratanawongsa, N., and Beach, MC. (2010). A Video-Intervention to Improve Clinician Attitudes Toward Patients with Sickle Cell Disease: The Results of a Randomized Experiment. J Gen Intern Med 26(5):518–23." xsd:string property_value: SCDO:0000303 "Request inclusion into NCIT below \"Research or Clinical Assessment Tool\"." xsd:string property_value: SCDO:0000340 "Haywood, Jr., C., Lanzkron, S., Hughes, MD3, Brown, R., Massa, M., Ratanawongsa, N., and Beach, MC. (2010). A Video-Intervention to Improve Clinician Attitudes Toward Patients with Sickle Cell Disease: The Results of a Randomized Experiment. J Gen Intern Med 26(5):518–23." xsd:string property_value: SCDO:0000470 "African Americans" xsd:string property_value: SCDO:0000481 "Self" xsd:string property_value: SCDO:0000482 "Heath care providers" xsd:string property_value: SCDO:0001033 "Demonstrated validity with SCD populations in the US" xsd:string property_value: SCDO:0001222 "Adults" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000935 name: Pruritus def: "Pruritus, or itch, is defined as an unpleasant sensation that provokes the desire to scratch." [] synonym: "Itchy Skin" EXACT [] synonym: "Skin Itching" EXACT [] xref: HP:0000989 is_a: HP:0000961 ! Cyanosis relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada property_value: SCDO:0000303 "Suggest update to description. The current description seems to be describing two different things in the same description." xsd:string property_value: SCDO:0000340 HP:0000989 property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000937 name: Psychological Stress def: "Stress wherein emotional factors predominate." [] synonym: "Emotional Stress" EXACT [] synonym: "Life Stress" EXACT [] synonym: "Psychological Suffering" EXACT [] xref: MESH:D013315 is_a: SCDO:0000746 ! Mental Health relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D013315 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000937 xsd:string [Term] id: SCDO:0000938 name: Psychosocial Deprivation def: "The absence of appropriate stimuli in the physical or social environment which are necessary for the emotional, social, and intellectual development of the individual." [] synonym: "Psychosocial Deprivations" EXACT [] xref: MESH:D011610 is_a: SCDO:0000299 ! Culture is_a: SCDO:0000746 ! Mental Health property_value: SCDO:0000303 "This term is placed below \"Culture\" in MESH." xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D011610 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000938 xsd:string [Term] id: SCDO:0000940 name: Psychotherapy def: "A generic term for the treatment of mental illness or emotional disturbances primarily by verbal or nonverbal communication." [] synonym: "Logotherapy" EXACT [] synonym: "Psycho-Therapy" EXACT [] xref: MESH:D011613 is_a: SCDO:0001129 ! Supportive Therapeutics relationship: SCDO:1000018 SCDO:0000360 ! treats Depression relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D011613 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000940 xsd:string [Term] id: SCDO:0000941 name: obsolete Publication Type def: "'Describes the type of material the article represents (e.g., Review, Clinical Trial, Retracted Publication, Letter); see the PubMed Publication Types, e.g., review[pt]. Publication Types are arranged hierarchically with more specific terms arranged beneath broader terms. [Curator team: []]'" [] is_a: SCDO:1000023 ! obsolete Evidence Code property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/EDDA_PT?p=classes&conceptid=http%3A%2F%2Fontologies.dbmi.pitt.edu%2Fedda%2FPublicationType.owl%23publication_type xsd:string is_obsolete: true [Term] id: SCDO:0000942 name: Pulmonary Function Test def: "Measurement of the various processes involved in the act of respiration: inspiration, expiration, oxygen and carbon dioxide exchange, lung volume and compliance, etc." [] synonym: "Lung Function Test" EXACT [] synonym: "PFT" EXACT [] synonym: "Respiratory Function Test" EXACT [] xref: MESH:D012129 is_a: SCDO:0000902 ! Physiological Assay property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D012129 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000942 xsd:string [Term] id: SCDO:0000943 name: Pulmonary Hypertension def: "An elevation of mean pulmonary arterial systolic pressure (mPASP) (>20 mmHg at rest or >30 mmHg with exercise). The 6th World Symposium on PH reduced it from >25mmHg to >20mmHg for at rest, but did not adjust the definition for PH with exercise." [] comment: Pulmonary hypertension can be secondary to known cardiac, pulmonary, or hepatic disease. If no cause is identifiable, the term primary pulmonary hypertension is used. synonym: "Increased Blood Pressure in Blood Vessels of Lungs" EXACT [] synonym: "Pulmonary Arterial Hypertension" EXACT [] is_a: HP:0000822 ! Hypertension relationship: SCDO:0000663 NCIT:C18772 ! diagnosed using tool Personal Medical History relationship: SCDO:0000663 SCDO:0000787 ! diagnosed using tool N-terminal Pro-brain Natriuretic Peptide Test relationship: SCDO:0000663 SCDO:0000898 ! diagnosed using tool Physical Examination relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: http://purl.org/dc/elements/1.1/source https://erj.ersjournals.com/content/53/1/1802148 property_value: SCDO:0000340 "Br J Haematol. 2006 Jul;134(1):109-15." xsd:string property_value: SCDO:0000340 "Simonneau et al 2013 J Am Coll Cardiol; Ataga et al." xsd:string property_value: SCDO:0000661 "Multifactorial, including chronic thromboembolism, splenectomy, high cardiac output, left-heart disease, and hyperviscosity; the role of an inactivation of nitric oxide by free plasma hemoglobin due to chronic hemolysis is controversial." xsd:string property_value: SCDO:1000288 "Few but definitions not specific enough" xsd:string [Term] id: SCDO:0000944 name: Pulse Oximeter def: "A measurement device, usually attached to the earlobe or fingertip, that measures the oxygen saturation of arterial blood." [] synonym: "Blood Oxygen Monitor" EXACT [] synonym: "Oxygen Monitor" EXACT [] xref: ERO:0000876 is_a: SCDO:0000376 ! Diagnostic Device relationship: SCDO:0000474 SCDO:0000885 ! has output measurement Peripheral Oxygen Saturation relationship: SCDO:1000191 SCDO:0000945 ! used by diagnostic tool Pulse Oximetry (Rest) property_value: SCDO:0000303 "This consists of 2 parts, the \"pulse oximeter monitor\" and the \"pulse oximeter probe\". Perhaps can be included as sub-classes or siblings? See \"Pulse Oximetry (Rest)\" in PhenX." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/ERO_0000876 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000944 xsd:string [Term] id: SCDO:0000945 name: Pulse Oximetry (Rest) def: "The application of pulse oximetry to measure a patient's saturation of oxyhemoglobin when the patient is at rest." [] xref: phenX:91102 is_a: NCIT:C38085 ! Pulse Oximetry relationship: SCDO:1000192 SCDO:0000944 ! uses diagnostic device Pulse Oximeter relationship: SCDO:1000194 SCDO:0000885 ! measures Peripheral Oxygen Saturation property_value: SCDO:0000303 "Suggest update to description in PhenX\n\nSuggest inclusion of term below \"Pulse Oximetry\" in the CMO." xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/91102 property_value: SCDO:0000479 "PhenX protocol: Pulse Oximetry (Rest) #91102" xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000947 name: Quality of Care Measure def: "The systemic measurement of the quality of health care that includes a broad set of perfomance measures such as the quality of services and the outcomes analysis for particular diseases and conditions, mortality and morbidity, patient safety, data on maternal and child health, as well as evaluation of quality of diagnosis, care accessibility, implementation of proven evidence-based practices, quality of reporting systems for errors and adverse events, reliability and accessibility of health and health care-related information, and health care organizations infrastructure." [] synonym: "Health Care Quality Assessment" EXACT [] synonym: "Quality of Health Care Assessment" EXACT [] xref: EDDA:health_care_quality_assessment is_a: SCDO:0000951 ! Quality of Life and Care Measure property_value: SCDO:0000303 "Suggest update to description in EDDA (replace \"excessability\" with \"accessibility\"." xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/EDDA?p=classes&conceptid=http%3A%2F%2Fontologies.dbmi.pitt.edu%2Fedda%2FStudyDesigns.owl%23health_care_quality_assessment property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000948 name: Quality of Health Care def: "The levels of excellence which characterize the health service or health care provided based on accepted standards of quality." [] synonym: "Health Care Quality" EXACT [] synonym: "Healthcare Quality" EXACT [] synonym: "Quality of Healthcare" EXACT [] xref: MESH:D011787 is_a: SCDO:0000950 ! Quality of Life and Care relationship: SCDO:1000015 NCIT:C17047 ! modifies Quality of Life property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D011787 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000948 xsd:string [Term] id: SCDO:0000950 name: Quality of Life and Care def: "The subjective measurement of an individual's sense of well-being and ability to enjoy life, and the levels of excellence which characterize the health service or health care provided to individuals based on accepted standards of quality." [] is_a: SCDO:0001000 ! SCDO property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: http://purl.org/dc/elements/1.1/source http://pediatrics.aappublications.org/content/130/5/926 property_value: SCDO:0000303 "Request inclusion into relevant ontology.\n\nInclude the term \"Transition from pediatric care\" somewhere...see the source provided here." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000951 name: Quality of Life and Care Measure def: "A measurement tool that is useful in aiding routine clinical practice with regard to quality of life and/or quality of care." [] synonym: "Quality of Life and Care Measurement Scales" EXACT [] is_a: SCDO:0000950 ! Quality of Life and Care property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000952 name: Quality of Life in Sickle Cell Disease Measure def: "A questionnaire to assess the physical, emotional, and social impact of chronic conditions, such as sickle cell disease (SCD)." [] synonym: "Quality of Life in SCD" EXACT [] xref: phenX:820200 is_a: SCDO:0000953 ! Quality of Life Measure is_a: SCDO:1000297 ! Quality of Life and Care Diagnostic Instrument relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:1000005 SCDO:0000234 ! modified by Chronic Sickle Cell Pain Management relationship: SCDO:1000005 SCDO:0000895 ! modified by Phenotype of Sickle Cell Disease relationship: SCDO:1000005 SCDO:0001023 ! modified by SCD Related Pain relationship: SCDO:1000005 SCDO:0001052 ! modified by Sickle Cell Pain Management property_value: SCDO:0000303 "Suggest update to label in PhenX." xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/PHENX?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FphenX%2F820200 property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0000953 name: Quality of Life Measure def: "A measurement tool with eight potential uses in aiding routine clinical practice. It can be used to prioritise problems, facilitate communication, screen for potential problems, identify preferences, monitor changes or response to treatment, and train new staff. It can also be used in clinical audit and in clinical governance. The first five of these can be used in the clinical encounter, while the last three contribute to training, reviewing care, and improving care in the future." [] is_a: SCDO:0000951 ! Quality of Life and Care Measure relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1120388/ property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000954 name: Quality of Life Related SCD Symptoms and Complications def: "Sickle cell symptoms where there is evidence of some relation with quality of life." [] is_a: NCIT:C17047 ! Quality of Life property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Probably too specific to be included in other ontologies." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000955 name: Quality-Adjusted Life Year (QALY) def: "QALYs are used primarily to correct a person's life expectancy based on the levels of health-related quality of life they are predicted to experience throughout the course of their life, or part of it." [] comment: The number of QALYs lived by an individual in one year is simply: QALYs lived in one year = 1 * Q with Q <= 1; where Q is the health-related quality of life weight attached to the relevant year of life. I.e. QALY assumes a utility value (quality of life) of 1 = perfect health and a utility value of 0 = dead: Years of Life x Utility Value = Number of QALYs. E.g. If a person lives in perfect health for one year, that person will have 1 QALY (1 Year of Life x 1 Utility Value = 1 QALY), If a person lives in perfect health but only for half a year, that person will have 0.5 QALYs (0.5 Years of Life x 1 Utility Value = 0.5 QALYs) OR if a person lives for 1 year in a situation with 0.5 utility (half of perfect health), that person will also have 0.5 QALYs (1 Year of Life x 0.5 Utility Value = 0.5 QALYs). In cost-effectiveness evaluations the QALY is used to quantify the effectiveness of, for instance, a new medication versus the current one. In other words, the current standard of care is taken as the baseline, and the QALYs gained from the new (improved) intervention are counted in addition. synonym: "QALY" EXACT [] synonym: "Quality-Adjusted Life Year" EXACT [] is_a: SCDO:0000495 ! Health Utility is_a: SCDO:0000951 ! Quality of Life and Care Measure property_value: SCDO:0000470 "Multiple countries and cultural groups" xsd:string property_value: SCDO:0000481 "Self; Proxy" xsd:string property_value: SCDO:0000482 "All" xsd:string property_value: SCDO:0001033 "Standard global assessment of health interventions, also used in SCD studies" xsd:string property_value: SCDO:0001222 "Children and adults" xsd:string property_value: SCDO:0001335 "no" xsd:string property_value: SCDO:1000288 "Few but definitions not specific enough" xsd:string [Term] id: SCDO:0000957 name: obsolete Questionnaire def: "'Collection of data obtained from voluntary subjects. The information usually takes the form of answers to questions, or suggestions. Predetermined sets of questions used to collect data - clinical data, social status, occupational group, etc. [Curator team: []]'" [] xref: MESH:D011795 is_a: SCDO:1000034 ! from diagnostics property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/MESH?p=classes&conceptid=D011795 xsd:string is_obsolete: true [Term] id: SCDO:0000963 name: Radiography def: "Examination of any part of the body for diagnostic purposes by means of x-rays or gamma rays, recording the image on a sensitized surface (such as photographic film)." [] synonym: "Imaging by X-Ray" EXACT [] synonym: "X-Ray" EXACT [] xref: MESH:D011859 is_a: OBI:0000185 ! Imaging Assay relationship: SCDO:1000192 OBI:0001138 ! uses diagnostic device X-Ray Machine relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D011859 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000963 xsd:string [Term] id: SCDO:0000964 name: Radionuclide Imaging def: "The production of an image obtained by cameras that detect the radioactive emissions of an injected radionuclide as it has distributed differentially throughout tissues in the body. The image obtained from a moving detector is called a scan, while the image obtained from a stationary camera device is called a scintiphotograph." [] synonym: "Imaging by Radionuclide" EXACT [] synonym: "Scintigraphy" EXACT [] xref: MESH:D011877 is_a: OBI:0000185 ! Imaging Assay property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D011877 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000964 xsd:string [Term] id: SCDO:0000965 name: obsolete Randomized Controlled Trial def: "'A work that reports on a clinical trial that involves at least one test treatment and one control treatment, concurrent enrollment and follow-up of the test- and control-treated groups, and in which the treatments to be administered are selected by a random process, such as the use of a random-numbers table. [Curator team: []]'" [] xref: MESH:D016449 is_a: SCDO:0000283 ! obsolete Controlled Clinical Trial property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D016449 xsd:string is_obsolete: true [Term] id: SCDO:0000966 name: Rapid Estimate of Adolescent Literacy in Medicine (REALM-Teen) def: "The Rapid Estimate of Adolescent Literacy or REALM-Teen is a valid, reliable, easy-to-administer tool that will allow health professionals to screen youth in grades 6-12 for below-grade reading. The REALM-Teen is a reading recognition instrument, modeled after the Rapid Estimate of Adult Literacy in Medicine (REALM), the most commonly used tool to screen adults for low literacy in health care settings. The REALM-Teen is a reading recognition instrument which measures an individual's ability to pronounce words in ascending order of difficulty. All test words are commonly used adolescent health terms." [] synonym: "Rapid Estimate of Adolescent Literacy in Medicine" EXACT [] synonym: "REALM-Teen" EXACT [] is_a: SCDO:0000953 ! Quality of Life Measure property_value: http://purl.org/dc/elements/1.1/source "Davis TC, Wolf MS, Arnold CL, Byrd RS, Long SW, Springer T, Kennen E, Bocchini JA. (2006). Development and validation of the Rapid Estimate of Adolescent Literacy in Medicine (REALM-Teen): a tool to screen adolescents for below-grade reading in health care settings. Pediatrics 118(6):e1707-14." xsd:string property_value: SCDO:0000303 "Request inclusion into NCIT below \"Research or Clinical Assessment Tool\".\n\nAdd these annotation properties: -- has cross-cultural adaptation -- freely available -- has translations" xsd:string property_value: SCDO:0000340 "Davis TC, Wolf MS, Arnold CL, Byrd RS, Long SW, Springer T, Kennen E, Bocchini JA. (2006). Development and validation of the Rapid Estimate of Adolescent Literacy in Medicine (REALM-Teen): a tool to screen adolescents for below-grade reading in health care settings. Pediatrics 118(6):e1707-14." xsd:string property_value: SCDO:0000481 "Self" xsd:string property_value: SCDO:0000482 "Adolescents with SCD" xsd:string property_value: SCDO:0001033 "Used in SCD studies" xsd:string property_value: SCDO:0001222 "Adolescents" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000970 name: Recovery and Recurrence Questionnaire (RRQ) def: "A questionnaire that assesses recovery and recurrence of stroke in children. It is completed by a parent about their child." [] synonym: "Recovery and Recurrence Questionnaire (RRQ) - Pediatrics" EXACT [] synonym: "RRQ" EXACT [] xref: phenX:820702 is_a: SCDO:0001339 ! Functionality After Stroke Measure relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age property_value: SCDO:0000303 "Suggest update to description in PhenX." xsd:string property_value: SCDO:0000340 http://www.phenxtoolkit.org/index.php?pageLink=browse.protocoldetails&id=820702 xsd:string property_value: SCDO:0000479 "PhenX protocol: Recovery and Recurrence Questionnaire (RRQ) - Pediatrics #820702" xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000972 name: Recurrent Wheeze in Sickle Cell Disease def: "Recurrent episodes of wheezing in persons with SCD who have no co-morbid asthma." [] synonym: "RWIS" EXACT [] is_a: SCDO:0000895 ! Phenotype of Sickle Cell Disease relationship: SCDO:0000664 SCDO:0000147 ! treated with Blood Transfusion relationship: SCDO:0000664 SCDO:0000580 ! treated with Hydroxyurea property_value: SCDO:0000303 "Probably too specific to warrant inclusion into anther ontology." xsd:string property_value: SCDO:0000340 "Glassberg et al 2014 Curr Opin Pediatr." xsd:string property_value: SCDO:0000340 "Knight-Madden et al 2014 Ped Resp Rev" xsd:string property_value: SCDO:0000661 "Likely related to inflammation of SCD." xsd:string property_value: SCDO:0000662 "Other markers of severity of SCD- eg complications of SCD, high LDH." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000975 name: Red Blood Cell Microparticles Level def: "The amount of red blood cell derived microparticles in a specific volume of blood." [] synonym: "Cell-Derived Microparticles" BROAD [] synonym: "EMP Level" EXACT [] synonym: "Erythrocyte-Derived Microparticles Level" EXACT [] synonym: "Level of Red Blood Cell Microparticles" EXACT [] synonym: "RBC Microparticles Level" EXACT [] synonym: "Red Blood Cell Derived Microparticles Level" EXACT [] is_a: CMO:0000023 ! Blood Chemistry Measurement relationship: SCDO:1000190 SCDO:0001326 ! obtained via diagnostic tool Flow Cytometry relationship: SCDO:1000190 SCDO:1000314 ! obtained via diagnostic tool Red Blood Cell Microparticles Assay property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3678264/ property_value: SCDO:0000303 "Request inclusion into relevant ontology\n\nMore info can be taken from the dc:source provided.\n\nPerhaps add MeSH term \"Cell-Derived Microparticles\" as a superclass of this term?" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000976 name: Reduced Hemoglobin A def: "Hemoglobin A (HbA) contains two alpha-globin chains and two beta-globin chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decrease in the proportion of HbA below this limit, and can be seen in various forms of thalassemia." [] xref: HP:0011905 is_a: HP:0020062 ! Decreased Hemoglobin Concentration is_a: SCDO:1000061 ! Altered Level of Normal Hemoglobin in SCD relationship: SCDO:1000202 SCDO:0000042 ! caused by Alpha Thalassemia relationship: SCDO:1000210 SCDO:0000042 ! has causal or contributing genetic variation Alpha Thalassemia relationship: SCDO:1000210 SCDO:0009731 ! has causal or contributing genetic variation Beta Thalassemia Mutation property_value: SCDO:0000303 "Suggest update to description in HPO." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0011905 xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000978 name: Rehabilitation def: "Restoration of human functions to the maximum degree possible in a person or persons suffering from disease or injury." [] synonym: "Habilitation" EXACT [] xref: MESH:D012046 is_a: SCDO:0001129 ! Supportive Therapeutics property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D012046 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000978 xsd:string [Term] id: SCDO:0000979 name: Reincarnation def: "Reincarnation is the philosophical or religious concept that an aspect of a living being starts a new life in a different physical body or form after each biological death." [] synonym: "Rebirth" EXACT [] synonym: "Transmigration" EXACT [] is_a: SCDO:0000107 ! Beliefs About Causes of Illness property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://en.wikipedia.org/wiki/Reincarnation xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0000981 name: Religion def: "A set of beliefs concerning the nature, cause, and purpose of the universe, especially when considered as the creation of a superhuman agency. It usually involves devotional and ritual observances and often a moral code for the conduct of human affairs." [] synonym: "Religious Beliefs" EXACT [] synonym: "Religious Ethics" EXACT [] xref: MESH:D012067 is_a: NCIT:C19332 ! Personal Attribute is_a: SCDO:0000299 ! Culture property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D012067 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000981 xsd:string [Term] id: SCDO:0000983 name: Renal Dialysis def: "Therapy for the insufficient cleansing of the BLOOD by the kidneys based on dialysis and including hemodialysis, peritoneal dialysis, and hemodiafiltration." [] synonym: "Dialyses, Renal" EXACT [] synonym: "Extracorporeal Dialyses" EXACT [] synonym: "Extracorporeal Dialysis" EXACT [] synonym: "Haemodialysis" EXACT [] synonym: "Hemodialyses" EXACT [] synonym: "Renal Dialyses" EXACT [] xref: MESH:D006435 is_a: SCDO:1000004 ! Renal Replacement Therapy relationship: SCDO:1000018 HP:0001298 ! treats Encephalopathy relationship: SCDO:1000018 HP:0001919 ! treats Acute Kidney Injury relationship: SCDO:1000018 HP:0002157 ! treats Azotaemia relationship: SCDO:1000018 HP:0002913 ! treats Myoglobinuria relationship: SCDO:1000018 HP:0003774 ! treats End Stage Kidney Disease relationship: SCDO:1000018 HP:0008682 ! treats Acute Tubular Necrosis relationship: SCDO:1000018 SCDO:0000226 ! treats Chronic Kidney Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000303 "Include types of renal dialysis as sub-classes: -- Peritoneal dialysis -- Hemodialysis -- Pediatric dialysis? -- Hemofiltration -- Hemodiafiltration" xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D006435 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000983 xsd:string [Term] id: SCDO:0000984 name: Renal Ischemia def: "Inadequate blood flow to one or both kidneys, or nephrons, usually due to functional constriction or actual obstruction of blood vessels." [] synonym: "Kidney Ischaemia" EXACT [] synonym: "Kidney Ischemia" EXACT [] synonym: "Nephric Ischaemia" EXACT [] synonym: "Nephric Ischemia" EXACT [] synonym: "Renal Ischaemia" EXACT [] xref: MP:0011758 is_a: HP:0000077 ! Abnormality of the Kidney is_a: SCDO:0000665 ! Ischemia is_a: SCDO:1000383 ! Renal Complication relationship: SCDO:0000663 NCIT:C18772 ! diagnosed using tool Personal Medical History relationship: SCDO:0000664 SCDO:0001129 ! treated with Supportive Therapeutics relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada property_value: SCDO:0000303 "Suggest update to description in Mammalian Phenotype ontology.\n\nProvide source for additional info." xsd:string property_value: SCDO:0000340 MP:0011758 property_value: SCDO:0000661 "Loss of adequate blood flow may be due to obstruction of blood vessels - large or small or due to low flow states such as prolonged hypotension." xsd:string property_value: SCDO:0000662 "Usually associated with kidney injury as noted by decrease in urine output and/or elevation in serum creatinine." xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000985 name: Renal Transplant def: "The transference of a kidney from one human or animal to another." [] synonym: "Kidney Grafting" EXACT [] synonym: "Kidney Transplant" EXACT [] synonym: "Kidney Transplantation" EXACT [] synonym: "Kidney Transplantations" EXACT [] synonym: "Renal Transplantation" EXACT [] synonym: "Renal Transplantations" EXACT [] xref: MESH:D016030 is_a: SCDO:1000004 ! Renal Replacement Therapy relationship: SCDO:1000018 HP:0003774 ! treats End Stage Kidney Disease relationship: SCDO:1000018 SCDO:0000226 ! treats Chronic Kidney Disease property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D016030 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000985 xsd:string [Term] id: SCDO:0000986 name: Renal Tubular Acidosis def: "Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia." [] synonym: "Accumulation of Acid in Body Due to Kidney Problem" EXACT [] synonym: "RTA" EXACT [] xref: HP:0001947 is_a: HP:0000077 ! Abnormality of the Kidney relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada property_value: SCDO:0000303 "Suggest update to description in HPO.\n\nProvide source for additional info." xsd:string property_value: SCDO:0000340 HP:0001947 property_value: SCDO:0000472 "Has multiple types - Type 1 (Distal RTA), Type 2 (Proximal RTA), Type 4 (Hyperkalemic RTA). Sickle cell disease may demonstrate a voltage dependent Type 1 RTA." xsd:string property_value: SCDO:0000661 "Defects in the kidneys in reabsorption of bicarbonate (HCO3), the excretion of hydrogen ions (H+), or both." xsd:string property_value: SCDO:0000662 "A relatively normal GFR and a metabolic acidosis accompanied by hyperchloremia and a normal plasma anion gap." xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0000987 name: Reproductive History Diagnostic Instrument def: "A questionnaire to assess either male or females' pregnancy history. Females are asked about the number of pregnancies, description of pregnancies and smoking during pregnancy. Males are asked whether they have ever fathered a pregnancy and, if so, the description of the pregnancy." [] xref: phenX:101300 is_a: NCIT:C91105 ! Clinical or Research Assessment Questionnaire is_a: SCDO:1000033 ! Diagnostic Instrument relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender property_value: SCDO:0000303 "Suggest update to labels of as we have done. We are using \"Reproductive History\" below Personal Attribute.\nAlso suggest update to description as we have done." xsd:string property_value: SCDO:0000340 "details" property_value: SCDO:1000288 "Suggest update to label and description" xsd:string [Term] id: SCDO:0000988 name: deprecated Reproductive System def: "'Anatomical system that has as its parts the organs concerned with reproduction. [Curator team: []]'" [] xref: UBERON:0000990 is_a: SCDO:0001336 ! from phenotype property_value: SCDO:0000340 http://purl.obolibrary.org/obo/UBERON_0000990 xsd:string is_obsolete: true replaced_by: SCDO:1000263 [Term] id: SCDO:0000990 name: obsolete Research Activity def: "'Systematic investigation into a subject in order to discover facts, establish or revise a theory, or develop a plan of action based on the facts discovered. [Curator team: []]'" [] xref: NCIT:C15429 is_a: SCDO:1000031 ! from personal attribute property_value: SCDO:0000303 "Consider other sub-classes of this in NCIT." xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C15429 xsd:string is_obsolete: true [Term] id: SCDO:0000993 name: Respiratory Rate def: "The number of times an organism breathes with the lungs (respiration) per unit time, usually per minute." [] synonym: "Breathing Frequency" EXACT [] synonym: "Pulmonary Ventilation Rate" EXACT [] synonym: "Respiration Rate" EXACT [] xref: MESH:D056152 is_a: CMO:0000094 ! Respiratory System Measurement relationship: SCDO:1000772 NCIT:C50474 ! has possible finding Bradypnea relationship: SCDO:1000772 NCIT:C50767 ! has possible finding Tachypnea property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D056152 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000993 xsd:string [Term] id: SCDO:0000994 name: deprecated Respiratory System def: "Lungs and respiratory system of the body." [] synonym: "Pulmonary System" EXACT [] is_a: SCDO:0001336 ! from phenotype is_obsolete: true replaced_by: SCDO:0004899 [Term] id: SCDO:0001000 name: SCDO def: "Root of all terms in the Sickle Cell Disease Ontology, an effort of unambiguously describing all concepts and unifying up-to-date knowledge in sickle cell disease." [] synonym: "Sickle Cell Disease Ontology" EXACT [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Gaston K. Mazandu)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001002 name: Restriction Fragment Length Polymorphism PCR def: "PCR-restriction fragment length polymorphism (RFLP)-based analysis, also known as cleaved amplified polymorphic sequence (CAPS), is a popular technique for genetic analysis. It has been applied for the detection of intraspecies as well as interspecies variation. There exist several techniques that are related with PCR-RFLP and also involve gel electrophoresis including techniques for DNA fingerprinting and expression profiling." [] synonym: "PCR-RFLP" EXACT [] synonym: "Restriction Fragment Length Polymorphism - Polymerase Chain Reaction" EXACT [] is_a: SCDO:0000913 ! Polymerase Chain Reaction property_value: SCDO:0000303 "Request inclusion into relevant ontology." xsd:string property_value: SCDO:0000340 "Henrik Berg Rasmussen (April 4th 2012). Restriction Fragment Length Polymorphism Analysis of PCR-Amplified Fragments (PCR-RFLP) and Gel Electrophoresis - Valuable Tool for Genotyping and Genetic Fingerprinting, Gel Electrophoresis Sameh Magdeldin, IntechOpen, DOI: 10.5772/37724. Available from: https://www.intechopen.com/books/gel-electrophoresis-principles-and-basics/restriction-fragment-length-polymorphism-analysis-of-pcr-amplified-fragments-pcr-rflp-and-related-te" xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0001004 name: Reticulocyte Count def: "The number of reticulocytes per unit volume of blood. The values are expressed as a percentage of the erythrocyte count or in the form of an index (\"corrected reticulocyte index\"), which attempts to account for the number of circulating erythrocytes." [] synonym: "Reticulocyte Number" EXACT [] xref: MESH:D017701 is_a: CMO:0000025 ! Red Blood Cell Count relationship: SCDO:0001297 NCIT:C16564 ! has essential measure Ethnic Group relationship: SCDO:0001297 NCIT:C17049 ! has essential measure Race relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:1000190 SCDO:1000686 ! obtained via diagnostic tool Reticulocyte Count Assay relationship: SCDO:1000772 HP:0001896 ! has possible finding Reticulocytopenia relationship: SCDO:1000772 HP:0001923 ! has possible finding Reticulocytosis relationship: SCDO:1000772 SCDO:1000834 ! has possible finding Normal Reticulocyte Count relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D017701 property_value: SCDO:0000479 "PhenX protocol: Reticulocyte Count #810601" xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001004 xsd:string [Term] id: SCDO:0001005 name: Reticulocyte Count by Hematology Analyzer def: "A reticulocyte count that was performed with an electronic haematology analyzer." [] is_a: SCDO:0001004 ! Reticulocyte Count property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001006 name: Reticulocyte Count by Microsocopy def: "A reticulocyte count that was performed with microscopy." [] is_a: SCDO:0001004 ! Reticulocyte Count property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001007 name: Retinal Cryopexy def: "A procedure that uses intense cold to induce a chorioretinal scar and to destroy retinal or choroidal tissue." [] synonym: "Retinal Cryotherapy" EXACT [] is_a: SCDO:0000833 ! Ophthalmologic Surgical Procedure property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://www.surgeryencyclopedia.com/Pa-St/Retinal-Cryopexy.html xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001008 name: Retinal Detachment def: "Separation of the retina from the choroid and eye wall due to holes in the retina and traction on the retina by vitreous bands and condensed preretinal membranes (usually as sequelae of proliferative sickle retinopathy). Retinal detachment is the most severe complication (Stage V) of proliferative sickle retinopathy." [] is_a: HP:0000478 ! Abnormality of the Eye is_a: NCIT:C115319 ! Ophthalmologic Complication relationship: SCDO:0000663 NCIT:C101217 ! diagnosed using tool Retinal Examination relationship: SCDO:0000663 NCIT:C75583 ! diagnosed using tool Slit-Lamp Examination relationship: SCDO:0000663 SCDO:0000835 ! diagnosed using tool Ophthalmoscopy relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000303 "We provided a more SCD specific description than the generic descriptions provided in existing ontologies." xsd:string property_value: SCDO:0000340 "Ballas et al 2010 Am J Hematol" xsd:string property_value: SCDO:1000288 "Not relevant to context of sickle cell" xsd:string [Term] id: SCDO:0001010 name: Retrospective Studies def: "Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons." [] synonym: "Retrospective Study" EXACT [] xref: MESH:D012189 is_a: SCDO:0000263 ! Cohort Studies property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D012189 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001010 xsd:string [Term] id: SCDO:0001017 name: Rural Location def: "An open swath of land that has few homes or other buildings, and not very many people." [] synonym: "Rural" EXACT [] synonym: "Rural Area" EXACT [] synonym: "Rural Setting" EXACT [] is_a: GAZ:00000448 ! Geographic Location is_a: SCDO:0000496 ! Healthcare Access property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 https://www.nationalgeographic.org/encyclopedia/rural-area/ property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001019 name: Salmon Patch Hemorrhage def: "Round or oval-shaped intraretinal accumulation of erythrocytes that may be up to 2 mm in diameter. This small intraretinal hematoma is initially red and becomes salmon colored with time." [] synonym: "Salmon Patch Hemorrhages" EXACT [] is_a: HP:0000478 ! Abnormality of the Eye is_a: NCIT:C115319 ! Ophthalmologic Complication relationship: SCDO:0000663 NCIT:C75583 ! diagnosed using tool Slit-Lamp Examination relationship: SCDO:0000663 SCDO:0000835 ! diagnosed using tool Ophthalmoscopy relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: SCDO:0000303 "Request inclusion into relevant ontology." xsd:string property_value: SCDO:0000340 "Ballas et al 2010 Am J Hematol" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001020 name: Sampling Studies def: "Studies in which a number of subjects are selected from all subjects in a defined population. Conclusions based on sample results may be attributed only to the population sampled." [] synonym: "Probability Sample" EXACT [] synonym: "Probability Samples" EXACT [] synonym: "Sampling Study" EXACT [] xref: MESH:D012494 is_a: SCDO:0000437 ! Epidemiologic Studies property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D012494 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001020 xsd:string [Term] id: SCDO:0001023 name: SCD Related Pain def: "Pain resulting from the presence of Sickle Cell Disease (SCD). Such pain can be acute, chronic or a mixture of the two." [] synonym: "SCD Pain" EXACT [] synonym: "SCD-Related Pain" EXACT [] is_a: SCDO:0000851 ! Pain is_a: SCDO:0000895 ! Phenotype of Sickle Cell Disease is_a: SCDO:0000954 ! Quality of Life Related SCD Symptoms and Complications relationship: SCDO:1000015 SCDO:0000952 ! modifies Quality of Life in Sickle Cell Disease Measure relationship: SCDO:1000202 SCDO:1000106 ! caused by Sickle Cell Disease property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: http://purl.org/dc/elements/1.1/source "Okpala I., Tawil A. Management of pain in sickle-cell disease. Journal of the Royal Society of Medicine. 2002;95(9):456-458. doi: 10.1258/jrsm.95.9.456" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001025 name: Scleral Buckling def: "An operation for retinal detachment which reduces the size of the globe by indenting the sclera so that it approximates the retina." [] synonym: "Scleral Buckle Surgery" EXACT [] synonym: "Scleral Bucklings" EXACT [] xref: MESH:D012591 is_a: SCDO:0000833 ! Ophthalmologic Surgical Procedure property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D012591 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001025 xsd:string [Term] id: SCDO:0001027 name: Secondary Healthcare def: "Specialized healthcare delivered as a follow-up or referral from a primary care provider." [] synonym: "Secondary Care" EXACT [] synonym: "Secondary Health Care" EXACT [] xref: MESH:D063127 is_a: SCDO:0000494 ! Health System property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D063127 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001027 xsd:string [Term] id: SCDO:0001029 name: Sedentary Lifestyle def: "Usual level of physical activity that is less than 30 minutes of moderate-intensity activity on most days of the week." [] xref: MESH:D057185 is_a: SCDO:0000689 ! Lifestyle property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D057185 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001029 xsd:string [Term] id: SCDO:0001034 name: Self Care def: "Caring for self when ill or positive actions and adopting behaviors to prevent illness." [] synonym: "Self Management" EXACT [] synonym: "Self-Care" EXACT [] synonym: "Self-Management" EXACT [] xref: MESH:D012648 is_a: SCDO:0000978 ! Rehabilitation property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D012648 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001034 xsd:string [Term] id: SCDO:0001035 name: Self Efficacy def: "Cognitive mechanism based on expectations or beliefs about one's ability to perform actions necessary to produce a given effect." [] synonym: "Self-Concept" EXACT [] xref: MESH:D020377 is_a: SCDO:0000286 ! Coping Skill property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D020377 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001035 xsd:string [Term] id: SCDO:0001037 name: Self-Reported Weight def: "The weight in kilograms or pounds as reported by the participant." [] is_a: SCDO:0000152 ! Body Weight property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001041 name: Seroepidemiologic Studies def: "Epidemiologic studies based on the detection through serological testing of characteristic change in the serum level of specific antibodies. Latent subclinical infections and carrier states can thus be detected in addition to clinically overt cases." [] synonym: "Seroprevalences" EXACT [] xref: MESH:D016036 is_a: SCDO:0000437 ! Epidemiologic Studies property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D016036 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001041 xsd:string [Term] id: SCDO:0001043 name: Serum HDL Cholesterol Level def: "The amount of the HDL cholesterol, the small lipoprotein:cholesterol complex that transports cholesterol out of the arteries and to the liver for reprocessing or excretion, in a specified volume of serum." [] synonym: "Blood HDL Cholesterol Amount" EXACT [] synonym: "Blood High Density Lipoprotein Cholesterol Amount" EXACT [] synonym: "Circulating HDL Cholesterol Amount" EXACT [] synonym: "Circulating HDL Cholesterol Level" EXACT [] synonym: "HDL Cholesterol Level" EXACT [] synonym: "HDL Level" EXACT [] is_a: CMO:0000023 ! Blood Chemistry Measurement relationship: SCDO:1000190 SCDO:1000315 ! obtained via diagnostic tool Serum HDL Cholesterol Test property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 VT:0000184 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0001044 name: SF-36v2 Health Survey def: "A 36-item instrument for measuring health status and outcomes via patient self-report. It is designed for use in surveys of general and specific populations, health policy evaluations, and clinical practice and research. The SF-36v2 measures the following eight health concepts, which are relevant across age, disease, and treatment groups: physical functioning, role limitations due to physical health problems, bodily pain, general health, vitality (energy/fatigue), social functioning, role limitations due to emotional problems, and mental health (psychological distress and psychological well-being). Both standard (4-week) and acute (1-week) recall versions are available. The survey's standardized scoring system yields a profile of eight health scores and two summary measures (physical and mental health) and a self-evaluated change in health status." [] is_a: SCDO:0000953 ! Quality of Life Measure property_value: SCDO:0000303 "Add these annotation properties: -- has cross-cultural adaptation -- freely available -- has translations" xsd:string property_value: SCDO:0000303 "Suggest update to label in PhenX (from \"Physical, Social, and Mental Health Functioning (SF-36V2)\")" xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/191201 property_value: SCDO:0000479 "PhenX protocol: #191201" xsd:string property_value: SCDO:0000481 "Self" xsd:string property_value: SCDO:0000482 "Healthy people; Clinic patients" xsd:string property_value: SCDO:0001033 "Demonstrated validity with SCD populations; multiple publications using the measure in SCD; very widely used with healthy populations and those with chronic conditions" xsd:string property_value: SCDO:0001222 "Adults 18 years and older" xsd:string property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0001047 name: Sickle Cell Disease Health-Related Stigma Scale (SCD-HRSS) def: "A measure of stigma among adults living with Sickle Cell disease. Focus on; depressive symptoms, pain, assertive communication, satisfaction with pain management experience, and health-related stigma." [] synonym: "SCD-HRSS" EXACT [] synonym: "Sickle Cell Disease Health-Related Stigma Scale" EXACT [] is_a: SCDO:0000953 ! Quality of Life Measure property_value: http://purl.org/dc/elements/1.1/source "Jenerette C, Brewer CA, Crandell J, Ataga KI. Preliminary validity and reliability of the Sickle Cell Disease Health-Related Stigma Scale.Issues Ment Health Nurs.2012 Jun;33(6):363-9." xsd:string property_value: SCDO:0000303 "Request inclusion into NCIT below \"Research or Clinical Assessment Tool\".\n\nAdd these annotation properties: -- has respondents -- has target population -- selection criteria met -- validated for age ranges -- has cross-cultural adaptation -- freely available -- has translations" xsd:string property_value: SCDO:0000340 "Jenerette C, Brewer CA, Crandell J, Ataga KI. Preliminary validity and reliability of the Sickle Cell Disease Health-Related Stigma Scale.Issues Ment Health Nurs.2012 Jun;33(6):363-9." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001048 name: Sickle Cell Disease Pain Burden Interview - Youth def: "The SCPBI-Y is a brief clinical interview designed to assess pain burden for children and adolescents with SCD." [] synonym: "SCPBI-Y" EXACT [] is_a: SCDO:0000953 ! Quality of Life Measure property_value: SCDO:0000303 "Request inclusion into NCIT below \"Research or Clinical Assessment Tool\".\n\nAdd these annotation properties: -- has respondents -- has target population -- selection criteria met -- validated for age ranges -- has cross-cultural adaptation -- freely available -- has translations" xsd:string property_value: SCDO:0000340 "Zempsky WT, O'Hara EA, Santanelli JP, Palermo TM, New T, Smith-Whitley K, Casella JF. Validation of the sickle cell disease pain burden interview-youth. J Pain. 2013 Sep;14(9):975-82." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001049 name: Sickle Cell Disease Screening Test def: "Sickle cell tests are used to help diagnose sickle cell anemia (also called sickle cell disease) and to identify those who may have sickle cell trait. Sickle cell anemia is an inherited disorder that leads to the production of an abnormal hemoglobin called hemoglobin S (Hb S or Hgb S). Sickle cell tests determine the presence and relative amount of hemoglobin S in a blood sample." [] synonym: "Screening for Sickle Cell Disease" EXACT [] is_a: SCDO:0000781 ! Mutation Carrier Screening property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 https://labtestsonline.org/tests/sickle-cell-tests xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0001050 name: Sickle Cell Disease Self-Efficacy Scale def: "A nine-item self-administered questionnaire that measures disease-specific perceptions of the ability to manage day-to-day issues resulting from sickle cell disease (SCD). Items are scores according to a five-point scale ranging from 1 - Not sure at all to 5 - Very sure. Responses from individual items are summed to give an overall score with higher scores indicating greater self-efficacy." [] synonym: "Scale of Self-efficacy in Sickle Cell Disease" EXACT [] is_a: SCDO:0000953 ! Quality of Life Measure is_a: SCDO:1000297 ! Quality of Life and Care Diagnostic Instrument relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age property_value: http://purl.org/dc/elements/1.1/source https://www.phenxtoolkit.org/protocols/view/820401?pageLink=browse.protocoldetails&id=820401 property_value: SCDO:0000303 "Suggest update to label in PhenX as we have done." xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/820401?pageLink=browse.protocoldetails&id=820401 property_value: SCDO:0000479 "PhenX protocol: Self-efficacy in Sickle Cell Disease #820401" xsd:string property_value: SCDO:0000481 "Self" xsd:string property_value: SCDO:0000482 "Clinic Patients (Adults with SCD)" xsd:string property_value: SCDO:0000486 "Self-efficacy, or one’s perceptions that they can exercise control over their behaviors and environment, may play an important role in determining the ability to adjust to chronic conditions such as sickle cell disease (SCD)." xsd:string property_value: SCDO:0001222 "18 and older" xsd:string property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0001051 name: Variant Sickle Cell Syndrome def: "A variant form of sickle cell disease that results from inheriting the sickle mutation in combination with another beta-globin gene mutation. These hemoglobinopathies may have different clinical severity compared to the homozygous form of sickle cell disease (HbSS)." [] synonym: "SCD Variant" EXACT [] synonym: "Sickle Cell Disease Variant" EXACT [] synonym: "Variant Sickle Cell Syndromes" EXACT [] is_a: SCDO:1000106 ! Sickle Cell Disease relationship: SCDO:0000663 NCIT:C15709 ! diagnosed using tool Genetic Testing relationship: SCDO:0000663 NCIT:C79903 ! diagnosed using tool Blood Smear relationship: SCDO:0000663 SCDO:0000547 ! diagnosed using tool Hemoglobin Profile Assay property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://www.uptodate.com/contents/overview-of-variant-sickle-cell-syndromes xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001052 name: Sickle Cell Pain Management def: "A form of therapy that employs a coordinated and interdisciplinary approach for easing the suffering and improving the quality of life of those experiencing sickle cell related pain." [] synonym: "Sickle Cell Pain Managements" EXACT [] is_a: SCDO:0001133 ! Symptomatic Therapeutics relationship: SCDO:1000015 SCDO:0000952 ! modifies Quality of Life in Sickle Cell Disease Measure property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into MESH below \"Pain Management\"." xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D059408 xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001053 name: Sickle Cell Painful Event def: "Pain lasting at least two hours that requires an unscheduled emergency room visit or hospitalization or that disrupts daily activities." [] synonym: "Pain Episode" EXACT [] synonym: "Painful Crisis" EXACT [] synonym: "Painful Event" EXACT [] synonym: "Sickle Cell Acute Pain Episode" EXACT [] synonym: "Sickle Cell Pain Episode" EXACT [] is_a: SCDO:0001023 ! SCD Related Pain property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: http://purl.org/dc/elements/1.1/source http://www.phenxtoolkit.org/index.php?pageLink=browse.protocoldetails&id=830101 xsd:string property_value: SCDO:0000303 "Could be categorised as a phenotype \"Finding\"." xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001054 name: Sickle Cell Related Cancer def: "A cancer that is almost exclusively associated with sickle cell trait and/or sickle cell disease." [] synonym: "Sickle Cell Associated Cancer" EXACT [] is_a: OBI:1110053 ! Cancer property_value: http://purl.org/dc/elements/1.1/source "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001055 name: Sickle Cell Trait def: "The condition of being heterozygous for hemoglobin S." [] synonym: "AS Genotype" EXACT [] synonym: "Haemoglobin Genotype AS" EXACT [] synonym: "Hemoglobin Genotype AS" EXACT [] xref: MESH:D012805 is_a: NCIT:C95534 ! Hemoglobin Trait relationship: SCDO:0000469 SCDO:0000322 ! has clinical code D57.3 Sickle-cell trait relationship: SCDO:1000172 SCDO:1000161 ! has causal genotype Hemoglobin Genotype AS relationship: SCDO:1000210 SCDO:1000039 ! has causal or contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000218 HP:0003158 ! has manifestation Hyposthenuria relationship: SCDO:1000218 MP:0013305 ! has manifestation Isosthenuria relationship: SCDO:1000218 SCDO:0000508 ! has manifestation Hematuria relationship: SCDO:1000218 SCDO:0001511 ! has manifestation Renal Medullary Carcinoma relationship: SCDO:1000218 SCDO:0002106 ! has manifestation Splenic Infarction relationship: SCDO:1000218 SCDO:0009445 ! has manifestation Renal Papillary Necrosis relationship: SCDO:1000223 SCDO:0004139 ! has causal molecular phenotype Adult Hemoglobin property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D012805 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001055 xsd:string [Term] id: SCDO:0001056 name: Sickle Cell Disease-S Beta Minus Thalassemia def: "A mild form of sickle cell thalassemia characterized by the presence of hemoglobin S and a reduced amount of hemoglobin A in the red blood cells. It is characterized by the presence of small red blood cells and mild anemia." [] synonym: "S beta-minus" EXACT [] synonym: "Sickle B- Thalassemia" EXACT [] synonym: "Sickle Beta Minus Thalassemia" EXACT [] synonym: "Sickle Cell Disease-S Beta Minus Thalassemia" EXACT [] synonym: "Sickle Cell-B- Thalassemia" EXACT [] synonym: "Sickle Cell-Beta Minus Thalassemia" EXACT [] xref: NCIT:C98837 is_a: NCIT:C95539 ! Sickle Beta Thalassemia relationship: SCDO:0000663 NCIT:C15709 ! diagnosed using tool Genetic Testing relationship: SCDO:0000663 NCIT:C79903 ! diagnosed using tool Blood Smear relationship: SCDO:0000663 SCDO:0000547 ! diagnosed using tool Hemoglobin Profile Assay relationship: SCDO:0000664 NCIT:C561 ! treated with Ibuprofen relationship: SCDO:0000664 SCDO:0000010 ! treated with Acetaminophen relationship: SCDO:0001364 SCDO:1000243 ! has mode of inheritance Autosomal Recessive Compound Heterozygous relationship: SCDO:1000172 SCDO:1000159 ! has causal genotype Hemoglobin Genotype S/Beta Minus Thalassaemia relationship: SCDO:1000210 SCDO:0001765 ! has causal or contributing genetic variation Beta-Minus Thalassemia Mutation relationship: SCDO:1000210 SCDO:1000039 ! has causal or contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000218 DOID:1584 ! has manifestation Acute Chest Syndrome relationship: SCDO:1000218 HP:0001744 ! has manifestation Splenomegaly relationship: SCDO:1000218 SCDO:0001111 ! has manifestation Stroke relationship: SCDO:1000218 SCDO:0002106 ! has manifestation Splenic Infarction relationship: SCDO:1000218 SCDO:0006905 ! has manifestation Hypersplenism relationship: SCDO:1000218 SCDO:0009350 ! has manifestation Splenic Sequestration relationship: SCDO:1000223 HP:0011906 ! has causal molecular phenotype Reduced Beta/Alpha Synthesis Ratio relationship: SCDO:1000223 SCDO:0000514 ! has causal molecular phenotype Hemoglobin S relationship: SCDO:1000223 SCDO:0000976 ! has causal molecular phenotype Reduced Hemoglobin A relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives property_value: SCDO:0000303 "Suggest update to label in NCIT from \"Sickle Beta Plus Thalassemia\" to \"Sickle Beta Minus Thalassemia\"" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C98837 xsd:string property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0001059 name: Sickle Cell Disease-SC def: "One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia." [] synonym: "Hb SC-disease" EXACT [] synonym: "Hemoglobin S / Hemoglobin C Disease" EXACT [] synonym: "Hemoglobin SC Disease" EXACT [] synonym: "SC Disease" EXACT [] synonym: "Sickle Cell Disease SC" EXACT [] synonym: "Sickle Cell Hemoglobin C Disease" EXACT [] synonym: "Sickle Cell-Haemoglobin C Disease" EXACT [] synonym: "Sickle Cell-Hemoglobin C Disease" EXACT [] synonym: "Sickle-Cell/Hb-C Disease" EXACT [] xref: MESH:D006450 is_a: SCDO:0008262 ! Structural Hemoglobinopathy is_a: SCDO:1000163 ! Compound Heterozygous Sickle Cell Disease relationship: SCDO:0000469 SCDO:0000316 ! has clinical code D57.2 Sickle-cell/Hb-C disease relationship: SCDO:0000663 NCIT:C15709 ! diagnosed using tool Genetic Testing relationship: SCDO:0000663 NCIT:C79903 ! diagnosed using tool Blood Smear relationship: SCDO:0000663 SCDO:0000547 ! diagnosed using tool Hemoglobin Profile Assay relationship: SCDO:0001364 SCDO:1000243 ! has mode of inheritance Autosomal Recessive Compound Heterozygous relationship: SCDO:1000172 SCDO:1000049 ! has causal genotype Hemoglobin Genotype SC relationship: SCDO:1000210 SCDO:1000039 ! has causal or contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000210 SCDO:1000041 ! has causal or contributing genetic variation HBB, GLU6LYS relationship: SCDO:1000218 EUPATH:0000215 ! has manifestation Severe Anemia relationship: SCDO:1000223 SCDO:0000513 ! has causal molecular phenotype Hemoglobin C relationship: SCDO:1000223 SCDO:0000514 ! has causal molecular phenotype Hemoglobin S relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D006450 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001059 xsd:string [Term] id: SCDO:0001061 name: Sickle Cell Disease-S/D-Punjab def: "A rare compound heterozygous hemoglobinopathy characterised by the presence of two beta globin gene variants: that of hemoglobin S (beta-6(GAG-->GTG)) and that of hemoglobin D-Punjab (beta-121(GAA-->CAA))." [] synonym: "Haemoglobin S/D-Punjab" EXACT [] synonym: "Hemoglobin S/D-Punjab" EXACT [] synonym: "Sickle Cell-Haemoglobin D-Punjab" EXACT [] synonym: "Sickle Cell-Hemoglobin D-Punjab Disease" EXACT [] is_a: NCIT:C155310 ! Sickle Cell Disease-SD relationship: SCDO:0000663 NCIT:C15709 ! diagnosed using tool Genetic Testing relationship: SCDO:0000663 NCIT:C79903 ! diagnosed using tool Blood Smear relationship: SCDO:0000663 SCDO:0000547 ! diagnosed using tool Hemoglobin Profile Assay relationship: SCDO:0001364 SCDO:1000243 ! has mode of inheritance Autosomal Recessive Compound Heterozygous relationship: SCDO:1000172 SCDO:1000050 ! has causal genotype Hemoglobin Genotype S/D-Punjab relationship: SCDO:1000210 SCDO:1000039 ! has causal or contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000210 SCDO:1000109 ! has causal or contributing genetic variation HBB, GLU121GLN relationship: SCDO:1000223 SCDO:0000514 ! has causal molecular phenotype Hemoglobin S relationship: SCDO:1000223 SCDO:0000528 ! has causal molecular phenotype Hemoglobin D-Punjab property_value: http://purl.org/dc/elements/1.1/source http://purl.bioontology.org/ontology/RCD/D1064 property_value: SCDO:0000303 "Request inclusion into relevant ontology. Perhaps as sub-class of \"Sickle Cell-Hemoglobin D Disease\" in the NCIT." xsd:string property_value: SCDO:0000340 "Rahimah Ahmad*, Syahira Lazira Omar*, Siti Hida H M Arif*, Faidatul Syazlin A Hamid*, Nur Aisyah Aziz*, Nik Hafidzah N Mustapha**, Zubaidah Zakaria*Haemoglobin Sickle D Punjab: - A Case Report. Med J Malaysia. 2014. Vol 69 No 1." xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0001062 name: Sickle Cell Disease-SE def: "A variant of sickle cell disease due to heterozygosity for hemoglobin S and hemoglobin E mutations, which can cause mild hemolytic anemia." [] synonym: "Hb SE-Disease" EXACT [] synonym: "Hemoglobin SE Disease" EXACT [] synonym: "Hemoglobin SE-Disease" EXACT [] synonym: "Sickle Cell Disease SE" EXACT [] synonym: "Sickle Cell-Haemoglobin E Disease" EXACT [] synonym: "Sickle Cell-Hemoglobin E Disease" EXACT [] is_a: SCDO:0008262 ! Structural Hemoglobinopathy is_a: SCDO:1000163 ! Compound Heterozygous Sickle Cell Disease relationship: SCDO:0000663 NCIT:C15709 ! diagnosed using tool Genetic Testing relationship: SCDO:0000663 SCDO:0000424 ! diagnosed using tool Electrophoresis relationship: SCDO:0001364 SCDO:1000243 ! has mode of inheritance Autosomal Recessive Compound Heterozygous relationship: SCDO:1000172 SCDO:1000052 ! has causal genotype Hemoglobin Genotype SE relationship: SCDO:1000210 SCDO:1000039 ! has causal or contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000210 SCDO:1000042 ! has causal or contributing genetic variation HBB, GLU26LYS relationship: SCDO:1000218 DOID:1584 ! has manifestation Acute Chest Syndrome relationship: SCDO:1000218 HP:0001081 ! has manifestation Cholelithiasis relationship: SCDO:1000218 HP:0001744 ! has manifestation Splenomegaly relationship: SCDO:1000218 HP:0001903 ! has manifestation Anemia relationship: SCDO:1000218 HP:0010885 ! has manifestation Osteonecrosis relationship: SCDO:1000218 NCIT:C35447 ! has manifestation Osteonecrosis of the Femoral Head relationship: SCDO:1000218 SCDO:0000508 ! has manifestation Hematuria relationship: SCDO:1000218 SCDO:0000851 ! has manifestation Pain relationship: SCDO:1000218 SCDO:0001067 ! has manifestation Sickle Retinopathy relationship: SCDO:1000218 SCDO:0002106 ! has manifestation Splenic Infarction relationship: SCDO:1000218 SCDO:0009350 ! has manifestation Splenic Sequestration relationship: SCDO:1000223 SCDO:0000514 ! has causal molecular phenotype Hemoglobin S relationship: SCDO:1000223 SCDO:1000009 ! has causal molecular phenotype Hemoglobin E property_value: SCDO:0000303 "Suggest update to description of \"Sickle Cell-Hemoglobin D Disease\" in the NCIT." xsd:string property_value: SCDO:0000340 http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/Hb-F-S-E xsd:string property_value: SCDO:1000288 "Few but definitions not specific enough" xsd:string [Term] id: SCDO:0001063 name: Sickle Cell Disease-S/Lepore Boston def: "Sickle cell-Hb Lepore Boston syndrome is a type of sickle cell disease that differs from homozygous sickle cell disease where both parents carry sickle hemoglobin. In this variant one parent has the sickle cell hemoglobin the second parent has Hb Lepore Boston, the only one of the three Hb Lepore variants described in association with HbS." [] comment: Hb Lepore Washington, also known as Hb Lepore Boston or Hb Lepore Washington-Boston; most common in Italians from Southern Italy. synonym: "SCD-S/Lepore Boston" EXACT [] synonym: "Sickle Cell Disease-S/Lepore" EXACT [] synonym: "Sickle Cell-Hb Lepore Boston Syndrome" EXACT [] synonym: "Sickle Cell-Hemoglobin Lepore Boston Syndrome" EXACT [] is_a: NCIT:C95539 ! Sickle Beta Thalassemia relationship: SCDO:0000663 CMO:0000364 ! diagnosed using tool Complete Blood Count relationship: SCDO:0000663 SCDO:0000547 ! diagnosed using tool Hemoglobin Profile Assay relationship: SCDO:0001364 SCDO:1000243 ! has mode of inheritance Autosomal Recessive Compound Heterozygous relationship: SCDO:1000172 SCDO:1000070 ! has causal genotype Hemoglobin Genotype S/Lepore Boston relationship: SCDO:1000210 SCDO:1000039 ! has causal or contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000210 SCDO:1000209 ! has causal or contributing genetic variation Crossover between delta (HBD) and beta globin (HBB) gene loci relationship: SCDO:1000218 HP:0001744 ! has manifestation Splenomegaly relationship: SCDO:1000223 SCDO:0000514 ! has causal molecular phenotype Hemoglobin S relationship: SCDO:1000223 SCDO:1000089 ! has causal molecular phenotype Hemoglobin Lepore Boston property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source http://en.wikipedia.org/wiki/Hemoglobin_Lepore_syndrome property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://en.wikipedia.org/wiki/Hemoglobin_Lepore_syndrome property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001064 name: Sickle Cell Disease-S/O-Arab def: "One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin O-Arab. It can cause anemia, repeated infections, and periodic episodes of pain and organ damage." [] synonym: "Hb F,S,O-Arab" EXACT [] synonym: "Hb S O-Arab disease" EXACT [] synonym: "Hb S,O-Arab" EXACT [] synonym: "Hemoglobin S O-Arab Disease" EXACT [] synonym: "Sickle Cell-Haemoglobin O-Arab Disease" EXACT [] synonym: "Sickle Cell-Hemoglobin O-Arab Disease" EXACT [] synonym: "SO(Arab) disease" EXACT [] is_a: SCDO:0008262 ! Structural Hemoglobinopathy is_a: SCDO:1000163 ! Compound Heterozygous Sickle Cell Disease relationship: SCDO:0000663 NCIT:C15709 ! diagnosed using tool Genetic Testing relationship: SCDO:0000663 SCDO:0000424 ! diagnosed using tool Electrophoresis relationship: SCDO:0000663 SCDO:0000547 ! diagnosed using tool Hemoglobin Profile Assay relationship: SCDO:0000664 SCDO:0000147 ! treated with Blood Transfusion relationship: SCDO:0001364 SCDO:1000243 ! has mode of inheritance Autosomal Recessive Compound Heterozygous relationship: SCDO:1000172 SCDO:1000051 ! has causal genotype Hemoglobin Genotype S/O-Arab relationship: SCDO:1000210 SCDO:1000039 ! has causal or contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000210 SCDO:1000040 ! has causal or contributing genetic variation HBB, GLU121LYS relationship: SCDO:1000218 EUPATH:0000215 ! has manifestation Severe Anemia relationship: SCDO:1000223 SCDO:0000514 ! has causal molecular phenotype Hemoglobin S relationship: SCDO:1000223 SCDO:1000016 ! has causal molecular phenotype Hemoglobin O-Arab property_value: http://purl.org/dc/elements/1.1/source https://www.cancertherapyadvisor.com/labmed/anemia-associated-with-hemoglobin-s-o-arab/article/612377/ property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/Hb-F-S-O-Arab xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0001065 name: obsolete Sickle Cell-Hemoglobin Other than A,C,D,E,O-Arab def: "'A variant of sickle cell disease in which individuals have atypical hemoglobin molecules called hemoglobin S together with another form of abnormal hemoglobin, other than hemoglobin C,D,E and O-Arab. [Curator team: []]'" [] synonym: "Hb S Other than A,C,D,E,O-Arab" EXACT [] is_a: SCDO:0001336 ! from phenotype property_value: SCDO:0000340 http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/Hb-F-S-and-other-than-A-C-D-E-O-Arab xsd:string is_obsolete: true [Term] id: SCDO:0001067 name: Sickle Retinopathy def: "Retinal changes of sickle cell disease that can be either proliferative or non-proliferative. In both cases, the changes are caused by erythrostasis secondary to sickling." [] synonym: "Retinopathy due to SCD" EXACT [] synonym: "Sickle Cell Retinopathy" EXACT [] is_a: HP:0000478 ! Abnormality of the Eye is_a: NCIT:C115319 ! Ophthalmologic Complication relationship: SCDO:1000202 SCDO:0008623 ! caused by Vaso-Occlusion relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives property_value: SCDO:0000303 "Request inclusion into HPO below \"Retinopathy\".\n\nUse the scielo source to add info on diagnosis and treatment." xsd:string property_value: SCDO:0000340 "Bonanomi et al 2013 Arq Bras Oftalmol" xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0001068 name: Sickling Test def: "A qualitative screening test for sickling haemoglobins, especially HbS. In the SCT, sodium metabisulfite or sodium dithionate is used to desolubilise haemoglobin S to the crystallised deoxygenated form, which causes the abnormal RBCs to sickle, as detected by light microscopy." [] synonym: "Sickle Cell Identification, Slide Method" EXACT [] is_a: SCDO:0000548 ! Hemoglobin S Test is_a: SCDO:1000577 ! Type of SCD Test property_value: SCDO:0000303 "In SNOMED CT this term seems to be both \"Sickle cell identification, slide method\" and \"Sickling Test\". Request they merge these terms?" xsd:string property_value: SCDO:0000340 "Segen's Medical Dictionary. © 2012 Farlex, Inc." xsd:string property_value: SCDO:1000288 "Few but definitions not freely available." xsd:string [Term] id: SCDO:0001069 name: Sickness Impact Profile (SIP) def: "A generic measure used to evaluate the impact of SCD on both physical and emotional functioning of an affected person. SIP is designed to measure perceived health status and to be used as an outcome measure for evaluation, program planning, and policy formation related to health care. It is designed in such a way as to reflect sensitivity to changes and/or differences in health status and to be applicable across a broad range of types and severities of the SCD illness, as well as different demographic and cultural groups." [] synonym: "Sickness Impact Profile" EXACT [] synonym: "SIP" EXACT [] is_a: SCDO:0000953 ! Quality of Life Measure property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: http://purl.org/dc/elements/1.1/source "Bergner M., Bobbitt R.A., Carter W.B. and Gilson B.S. (1981). The Sickness Impact Profile: development and final revision of a health status measure. Medical Care 19,787-805." xsd:string property_value: SCDO:0000303 "Too specific to SCD to be included in other ontologies.\n\nThese annotation properties still required: -- has respondents -- has target population -- selection criteria met -- validated for age ranges -- has cross-cultural adaptation -- freely available -- has translations" xsd:string property_value: SCDO:0000340 http://link.springer.com/referenceworkentry/10.1007%2F978-0-387-79948-3_1833 xsd:string property_value: SCDO:0000340 http://qol.thoracic.org/sections/instruments/pt/pages/sick.html xsd:string property_value: SCDO:1000288 "Few but definitions not specific enough" xsd:string [Term] id: SCDO:0001070 name: deprecated Skin def: "'The bodily system consisting of the skin and its associated structures, such as the hair, nails, sweat glands, and sebaceous glands. [Curator team: []]'" [] synonym: "Dermatologic System" EXACT [] synonym: "Integumentary System" EXACT [] is_a: SCDO:0001336 ! from phenotype property_value: SCDO:0000340 "integumentary system. (n.d.) The American Heritage Medical Dictionary. (2007). Retrieved December 14 2016" xsd:string is_obsolete: true replaced_by: SCDO:0008348 [Term] id: SCDO:0001073 name: Skin Rash def: "An abnormal change in skin color, appearance, or texture." [] synonym: "Exanthem" EXACT [] xref: HP:0000988 is_a: HP:0011122 ! Abnormality of Skin Physiology relationship: SCDO:0000664 NCIT:C258 ! treated with Antibiotic relationship: SCDO:0000664 SCDO:0000066 ! treated with Antihistamine relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: SCDO:0000303 "Suggest update to description in HPO." xsd:string property_value: SCDO:0000340 HP:0000988 property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0001075 name: Sleep Breathing Disorder def: "An intrinsic sleep disorder characterized by breathing abnormalities." [] synonym: "SBD" EXACT [] xref: NBO:0000494 is_a: HP:0000708 ! Behavioural Abnormality relationship: SCDO:0000663 SCDO:0001076 ! diagnosed using tool Sleep Disorders Screener - Adult relationship: SCDO:0000663 SCDO:1000338 ! diagnosed using tool Sleep Disorders Screener - Children relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NBO_0000494 xsd:string property_value: SCDO:1000288 "Suffcient" xsd:string [Term] id: SCDO:0001076 name: Sleep Disorders Screener - Adult def: "An interviewer-administered questionnaire which captures routine sleep schedule, sleep deprivation, morningness-eveningness, insomnia, narcolepsy, cataplexy and associated distress." [] synonym: "National Institute of Mental Health (NIMH) Sleep Patterns and Problems Instrument" EXACT [] xref: phenX:121001 is_a: SCDO:1000348 ! Sleep Disorders Screener property_value: SCDO:0000303 "Suggest update to label in PhenX (from \"Suggest update to label\") as we have done." xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/121001 property_value: SCDO:0000479 "PhenX protocol: Sleep Disorders Screener #121001" xsd:string property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0001077 name: Slit Lamp def: "A microscope with a light source that can be projected into a linear beam. It allows cross-sectional viewing of the aqueous humor; conjuncteiva; cornea; eyelids; iris; and lens of the eye." [] xref: MESH:D066167 is_a: SCDO:0000376 ! Diagnostic Device relationship: SCDO:1000191 NCIT:C75583 ! used by diagnostic tool Slit-Lamp Examination property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D066167 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001077 xsd:string [Term] id: SCDO:0001079 name: Smoking def: "Inhaling and exhaling the smoke of burning tobacco (Cigar, Cigarette, Hookah, Pipe, Smoking, Waterpipe)." [] xref: MESH:D012907 is_a: SCDO:0000487 ! Health Behaviour property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D012907 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001079 xsd:string [Term] id: SCDO:0001080 name: Smoking Cessation def: "Discontinuing the habit of smoking." [] synonym: "Quit Smoking" EXACT [] xref: MESH:D016540 is_a: SCDO:0001159 ! Tobacco Use Cessation property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D016540 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001080 xsd:string [Term] id: SCDO:0001082 name: Social Environment def: "The aggregate of social and cultural institutions, forms, patterns, and processes that influence the life of an individual or community." [] synonym: "Social Ecology" EXACT [] xref: MESH:D012931 is_a: SCDO:0000435 ! Environmental Disease Modifier property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D012931 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001082 xsd:string [Term] id: SCDO:0001083 name: Social Functioning def: "Social functioning defines an individual's interactions with their environment and the ability to fulfill their role within such environments as work, social activities, and relationships with partners and family." [] is_a: NCIT:C17047 ! Quality of Life property_value: http://purl.org/dc/elements/1.1/source "PROMIS Domain Frameworks/Definitions nih.promis.org" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology\n\nInclude terms for social relationships; social activities?" xsd:string property_value: SCDO:0000340 "Compr Psychiatry. 2000 Jan-Feb;41(1):63-9. Assessment of social functioning in depression." xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0001084 name: Social Isolation def: "The separation of individuals or groups resulting in the lack of or minimizing of social contact and/or communication. This separation may be accomplished by physical separation, by social barriers and by psychological mechanisms. In the latter, there may be interaction but no real communication." [] synonym: "Social Isolations" EXACT [] xref: MESH:D012934 is_a: SCDO:0001083 ! Social Functioning property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D012934 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001084 xsd:string [Term] id: SCDO:0001085 name: Social Role def: "A role that is ascribed to individuals in a community." [] synonym: "Social Function" EXACT [] xref: SIO:000676 is_a: SCDO:0001083 ! Social Functioning property_value: SCDO:0000340 http://semanticscience.org/resource/SIO_000676 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001085 xsd:string [Term] id: SCDO:0001086 name: Social Role Fulfillment def: "An extent/ degree to which an individual fulfills the expectations of his/her social role." [] is_a: SCDO:0001083 ! Social Functioning property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001087 name: Social Skill def: "The personal set of abilities required to successfully interact and communicate with others, both verbally and non-verbally through gestures, body language and personal appearance." [] synonym: "Interpersonal Skill" EXACT [] synonym: "Social Ability" EXACT [] synonym: "Social Competence" EXACT [] synonym: "Social Skills" EXACT [] xref: MESH:D066107 is_a: SCDO:0001083 ! Social Functioning property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D066107 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001087 xsd:string [Term] id: SCDO:0001088 name: Social Support def: "Support systems that provide assistance and encouragement to individuals with physical or emotional disabilities in order that they may better cope. Informal social support is usually provided by friends, relatives, or peers, while formal assistance is provided by churches, groups, etc." [] synonym: "Psychosocial Support System" EXACT [] synonym: "Social Network" EXACT [] xref: MESH:D012944 is_a: SCDO:0001083 ! Social Functioning property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D012944 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001088 xsd:string [Term] id: SCDO:0001089 name: Social Values def: "Abstract standards or empirical variables in social life which are believed to be important and/or desirable." [] synonym: "Value Orientation" EXACT [] synonym: "Value Orientations" EXACT [] xref: MESH:D012945 is_a: SCDO:0000299 ! Culture property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D012945 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001089 xsd:string [Term] id: SCDO:0001090 name: Socioeconomic Factors def: "Social and economic factors that characterize the individual or group within the social structure." [] xref: MESH:D012959 is_a: SCDO:0001082 ! Social Environment property_value: SCDO:0000303 "Maybe include some sub-classes of this term in MESH? There would be overlap with terms in QOL, so would need to work around that." xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D012959 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001090 xsd:string [Term] id: SCDO:0001091 name: Socioeconomic Status def: "The combination of one's social class and income level. Includes socioeconomic differences between individuals or groups." [] xref: APAONTO:Socioeconomic_Status is_a: SCDO:0001090 ! Socioeconomic Factors property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/APAONTO/?p=classes&conceptid=http%3A%2F%2Fontology.apa.org%2Fapaonto%2FtermsonlyOUT%2520%285%29.owl%23Socioeconomic_Status xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001091 xsd:string [Term] id: SCDO:0001092 name: Solubility Test def: "A basic first line test that looks for the presence of abnormal Hemoglobin S in a blood sample. Sodium metabisulfite is added to the blood sample which causes Hb S polymerisation and sickling of red blood cells if Hb S is present. A positive result means that a person has either Sickle Cell Disease or Sickle Cell Trait. Confirmatory tests are needed to distinguish which form of SCD the patient has." [] synonym: "Hemoglobin S Solubility Test" EXACT [] is_a: SCDO:0000548 ! Hemoglobin S Test is_a: SCDO:1000577 ! Type of SCD Test property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Clair Ingram)" xsd:string property_value: SCDO:0000303 "In SNOMED CT this term is \"Hemoglobin S Solubility Test\"\n\nCommonly used tests include hemoglobin electrophoresis, isoelectric focusing (IEF), high performance liquid chromatography (HPLC), and DNA analysis." xsd:string property_value: SCDO:1000288 "Few but definitions not freely available." xsd:string [Term] id: SCDO:0001097 name: Sphygmomanometer def: "Instruments for measuring arterial blood pressure consisting of an inflatable cuff, inflating bulb, and a gauge showing the blood pressure." [] xref: MESH:D019722 is_a: SCDO:0000710 ! Manometer property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D019722 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001097 xsd:string [Term] id: SCDO:0001098 name: Spirituality def: "Sensitivity or attachment to religious values, or to things of the spirit as opposed to material or worldly interests." [] synonym: "Spiritual Beliefs" EXACT [] synonym: "Spiritualities" EXACT [] xref: MESH:D029181 is_a: SCDO:0000299 ! Culture property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D029181 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001098 xsd:string [Term] id: SCDO:0001099 name: Spirometer def: "A spirometer is an apparatus for measuring the volume of air inspired and expired by the lungs. It is a precision differential pressure transducer for the measurements of respiration flow rates. The spirometer records the amount of air and the rate of air that is breathed in and out over a specified period of time." [] xref: ERO:0000452 is_a: SCDO:0000376 ! Diagnostic Device relationship: SCDO:0000474 SCDO:0000704 ! has output measurement Lung Volume Measurement relationship: SCDO:1000191 NCIT:C85397 ! used by diagnostic tool Spirometry relationship: SCDO:1000191 SCDO:0000705 ! used by diagnostic tool Lung Volume Test property_value: SCDO:0000340 http://purl.obolibrary.org/obo/ERO_0000452 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001099 xsd:string [Term] id: SCDO:0001105 name: Steroid-Resistant Nephrotic Syndrome def: "A form of nephrotic syndrome that does not respond to treatment with steroid medication after 8 weeks, specifically in children." [] xref: HP:0012588 is_a: SCDO:0000796 ! Nephrotic Syndrome relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors relationship: SCDO:1000219 SCDO:0000796 ! diagnosed by Nephrotic Syndrome property_value: SCDO:0000303 "Suggest update to description in HPO\n\nProvide source for additional info." xsd:string property_value: SCDO:0000340 HP:0012588 property_value: SCDO:0000661 "May represent underlying focal segmental glomerulosclerosis, minimal change disease, or other underlying cause. Can be subseqeunt to known mutations." xsd:string property_value: SCDO:0000662 "Persistence of nephrotic syndrome despite appropriate treatment with corticosteroids." xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0001107 name: Stigma def: "A perceived attribute that is deeply discrediting and is considered to be a violation of social norms." [] synonym: "Social Stigma" EXACT [] synonym: "Social Stigmas" EXACT [] synonym: "Stigmas" EXACT [] xref: MESH:D057545 is_a: NCIT:C17047 ! Quality of Life property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D057545 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001107 xsd:string [Term] id: SCDO:0001108 name: Stigmatization def: "An oversimplified perception or conception, especially or persons, social groups, etc." [] synonym: "Stereotyping" EXACT [] xref: MESH:D013240 is_a: NCIT:C17047 ! Quality of Life property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D013240 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001108 xsd:string [Term] id: SCDO:0001111 name: Stroke def: "A group of pathological conditions characterized by sudden loss of neurological function due to brain ischemia or intracranial hemorrhages. Stroke is classified by the type of tissue necrosis, such as the anatomic location, vasculature involved, etiology, age of the affected individual, and hemorrhagic vs. non-hemorrhagic nature." [] synonym: "Brain Vascular Accident" EXACT [] synonym: "Cerebral Infarction" EXACT [] synonym: "Cerebral Vascular Event" EXACT [] synonym: "Cerebrovascular Accident" EXACT [] synonym: "Cerebrovascular Stroke" EXACT [] synonym: "CVA" EXACT [] xref: MESH:D020521 is_a: SCDO:0000954 ! Quality of Life Related SCD Symptoms and Complications is_a: SCDO:1000037 ! Abnormality of the Cerebral Vasculature relationship: SCDO:0000664 SCDO:0001166 ! treated with Transcranial Doppler Ultrasonography relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000303 "Types of stroke relevant to SCD to be added as children of this class." xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D020521 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001111 xsd:string [Term] id: SCDO:0001112 name: Stroke Impact Measure def: "This measure is a physical assessment to determine neurological deficits due to a stroke." [] synonym: "Stroke Impact/Outcome Measure" EXACT [] synonym: "Stroke Outcome Measure" EXACT [] xref: phenX:820800 is_a: SCDO:0000953 ! Quality of Life Measure is_a: SCDO:1000297 ! Quality of Life and Care Diagnostic Instrument relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age property_value: SCDO:0000303 "Suggest update to label in PhenX" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/PHENX/?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FphenX%2F820800 property_value: SCDO:0000486 "This measure is used to describe the consequences of a stroke and to monitor the effects of treatment and recovery." xsd:string property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0001113 name: Stroke Impact Scale (SIS) def: "This questionnaire includes 59 proxy- or self-report items in 8 domains that assess multidimensional stroke outcomes in adults." [] synonym: "Stroke Impact Scale (SIS) - Adults" EXACT [] xref: phenX:820701 is_a: SCDO:0001339 ! Functionality After Stroke Measure relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age property_value: SCDO:0000303 "Suggest update to description in PhenX." xsd:string property_value: SCDO:0000340 http://www.phenxtoolkit.org/index.php?pageLink=browse.protocoldetails&id=820701 xsd:string property_value: SCDO:0000479 "PhenX protocol: Stroke Impact Scale (SIS) - Adults #820701" xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0001114 name: Stroke Risk Test in Children with Sickle Cell Disease def: "A clinical test to measure the blood flow velocities in intracranial arteries. Elevated intracranial arterial blood flow rates are indicative of expanding vessel lesions and a subsequent increased risk of stroke." [] xref: phenX:821001 is_a: NCIT:C154865 ! Cerebral Blood Flow Assay relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:1000192 SCDO:0000396 ! uses diagnostic device Doppler Ultrasound Machine - 2 Megahertz relationship: SCDO:1000194 NCIT:C173396 ! measures Cerebral Blood Flow Velocity property_value: SCDO:0000303 "Include below \"Cerebral Flow Test\"? -- Include below \"Vascular Endothelial Function Test\"?" xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/821001 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001114 xsd:string [Term] id: SCDO:0001117 name: Stuttering Priapism def: "The occurrence of multiple self-limited episodes of unwanted, often painful erections lasting <4 hours." [] synonym: "Recurrent Priapism" EXACT [] is_a: SCDO:0000923 ! Priapism relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology, perhaps below \"Priapism\" in MESH." xsd:string property_value: SCDO:0000340 "Evidence-Based Management of Sickle Cell Disease, Expert Panel Report, 2014" xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0001120 name: Substance Use History def: "Assessment with the goal to obtain a relevant drug and alcohol history and perform a physical examination in order to establish whether there is a diagnosis of a substance use disorder." [] comment: If substance use disorder diagnosed, the patient’s readiness to change should be categorized and information from the assessment should be used to formulate a management plan based on the individual’s needs. is_a: NCIT:C18772 ! Personal Medical History property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:1000288 "Few but definitions not specific enough" xsd:string [Term] id: SCDO:0001121 name: Substances - Lifetime Use def: "An indication of whether the respondent has ever used a drug during his or her entire life." [] is_a: SCDO:0001120 ! Substance Use History is_a: SCDO:1000318 ! Diagnostic Instrument Measurement relationship: SCDO:1000190 SCDO:1000337 ! obtained via diagnostic tool Substances - Lifetime Use Diagnostic Instrument property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "Not relevant to context of sickle cell" xsd:string [Term] id: SCDO:0001122 name: Suicidal Thoughts def: "Frequent thinking about or preoccupation with killing oneself." [] synonym: "Suicidal Ideation" EXACT [] xref: HP:0031589 is_a: SCDO:0000360 ! Depression relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: SCDO:0000303 "Suggest update to description in HPO (correct typo in \"oneself\")" xsd:string property_value: SCDO:0000340 HP:0031589 property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0001123 name: Support Group def: "Organizations which provide an environment encouraging social interactions through group activities or individual relationships especially for the purpose of rehabilitating or supporting patients, individuals with common health problems, or the elderly. They include therapeutic social clubs." [] synonym: "Self Help Group" EXACT [] synonym: "Self-Help Group" EXACT [] synonym: "Self-Help Groups" EXACT [] synonym: "Therapeutic Social Club" EXACT [] xref: MESH:D012657 is_a: SCDO:0001083 ! Social Functioning property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D012657 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001123 xsd:string [Term] id: SCDO:0001129 name: Supportive Therapeutics def: "Measures aimed at providing appropriate supportive and rehabilitative services to minimize morbidity and maximize quality of life after a long-term disease or injury is present." [] synonym: "Supportive Therapy" EXACT [] synonym: "Tertiary Prevention" EXACT [] xref: MESH:D055512 is_a: SCDO:0001152 ! Therapeutics relationship: SCDO:1000018 HP:0001919 ! treats Acute Kidney Injury relationship: SCDO:1000018 HP:0002913 ! treats Myoglobinuria relationship: SCDO:1000018 HP:0003198 ! treats Myopathy relationship: SCDO:1000018 HP:0003641 ! treats Hemoglobinuria relationship: SCDO:1000018 HP:0008682 ! treats Acute Tubular Necrosis relationship: SCDO:1000018 HP:0009045 ! treats Exercise-Induced Rhabdomyolysis relationship: SCDO:1000018 NCIT:C26702 ! treats Ataxia relationship: SCDO:1000018 SCDO:0000032 ! treats Agenesis of Corpus Callosum relationship: SCDO:1000018 SCDO:0000984 ! treats Renal Ischemia property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D055512 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001129 xsd:string [Term] id: SCDO:0001132 name: Sustained and Selective Attention Diagnostic Instrument def: "A computerized test for the assessment of visual attention problems in individuals ages 8 years old and older." [] synonym: "Conners Continuous Performance Test 3rd Edition" EXACT [] synonym: "Conners Continuous Performance Test 3rd Edition (Conners CPT 3)" EXACT [] synonym: "Conners CPT 3" EXACT [] xref: phenX:821201 is_a: NCIT:C91105 ! Clinical or Research Assessment Questionnaire is_a: SCDO:1000033 ! Diagnostic Instrument relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age property_value: SCDO:0000303 "Suggest update to label in PhenX as we have done." xsd:string property_value: SCDO:0000340 http://www.phenxtoolkit.org/index.php?pageLink=browse.protocoldetails&id=821201 xsd:string property_value: SCDO:0000479 "PhenX protocol: Sustained and Selective Attention #821201" xsd:string property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0001133 name: Symptomatic Therapeutics def: "Therapeutics that ease the symptoms without addressing the basic cause of the disease." [] synonym: "Symptomatic Treatment" EXACT [] is_a: SCDO:0001152 ! Therapeutics relationship: SCDO:1000018 SCDO:0000021 ! treats Acute Upper Respiratory Tract Infection relationship: SCDO:1000018 SCDO:0000032 ! treats Agenesis of Corpus Callosum property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://www.medicinenet.com/script/main/art.asp?articlekey=10701 xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001135 name: Acute Sickle Cell Crisis def: "Refers to a worsening, over a short period of time, of the symptoms and signs of SCD; usually associated with pain and/or shortage of blood (anaemia). Can be suspected in a person with sickle cell disease who presents with a sudden onset of pain, infection, anemia or other symptoms such as stroke or priapism. Acute pain frequently occurs spontaneously, but may be precipitated by infections, skin cooling, dehydration or stress." [] is_a: SCDO:0000895 ! Phenotype of Sickle Cell Disease is_a: SCDO:1000000 ! Acute Phenotype relationship: SCDO:1000202 SCDO:0008623 ! caused by Vaso-Occlusion relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000303 "This is a difficult one to describe, as I think it can also be referred to as an 'acute painful crisis' (this is not clear from the literature). Have tried to merge descriptions from different sources - please review." xsd:string property_value: SCDO:0000340 !scenario:1 property_value: SCDO:0000340 "Rees, D. C., Olujohungbe, A. D., Parker, N. E., Stephens, A. D., Telfer, P. and Wright, J. (2003), Guidelines for the management of the acute painful crisis in sickle cell disease. British Journal of Haematology, 120: 744-752. doi:10.1046/j.1365-2141.2003.04193.x" xsd:string property_value: SCDO:0000340 "SCD Management guidelines - Nigeria" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001136 name: deprecated Systemic def: "'Affecting a number of tissues relating to the entire organism as distinguished from and of its individual parts. [Curator team: []]'" [] is_a: SCDO:0001336 ! from phenotype property_value: SCDO:0000340 http://medical-dictionary.thefreedictionary.com/systemic xsd:string is_obsolete: true replaced_by: SCDO:1000269 [Term] id: SCDO:0001140 name: Tertiary Healthcare def: "Care of a highly technical and specialized nature, provided in a medical center, usually one affiliated with a university, for patients with unusually severe, complex, or uncommon health problems." [] synonym: "Tertiary Care" EXACT [] synonym: "Tertiary Health Care" EXACT [] xref: MESH:D063128 is_a: SCDO:0000494 ! Health System property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D063128 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001140 xsd:string [Term] id: SCDO:0001141 name: Test of Functional Health Literacy in Adults (TOFHLA) def: "The Test of Functional Health Literacy Assessment (TOFHLA) assesses a patient's level of comprehension of health-related material. It is available in a full-format (a 22-minute test, with 50 reading comprehension items in three passages and 17 numeracy items), an abbreviated format (a 12-minute test, with 36 reading comprehension items in two passages and four numeracy items) and a shortened version (the S-TOFHLA, a 7-minute test, with 36 reading comprehension items in 2 passages.). The passages on the S-TOFHLA use a modified Cloze procedure where every fifth to seventh word is omitted and subjects select the correct word from among a set of four options. The passages contain information about an upper gastrointestinal tract x-ray procedure, and the \"Rights and Responsibilities\" section from a Medicaid application, and have Gunning-Fox readability indices of fourth and tenth grade, respectively. In early developmental studies, the reading comprehension passages in the S-TOFHLA had a reliability coefficient (Cronbach's alpha) of 0.97 and correlation with the Rapid Estimate of Adult Literacy in Medicine (REALM) of 0.81. Each selection is scored a \"1\" for correct or a \"0\" for incorrect and scores are summed over items to create a total score. The 36-point scale of the S-TOFHLA is divided into three categories of functional literacy: inadequate (0-16), adequate (17-22) and functional (23-36)." [] synonym: "Test of Functional Health Literacy in Adults" EXACT [] synonym: "TOFHLA" EXACT [] is_a: SCDO:0000951 ! Quality of Life and Care Measure property_value: http://purl.org/dc/elements/1.1/source "Parker RM, Baker DW, Williams MV, Nurss JR. The test of functional health literacy in adults: a new instrument for measuring patients' literacy skills. Journal of General Internal Medicine. 1995;10(10):537-41." xsd:string property_value: SCDO:0000303 "Request inclusion into NCIT below \"Research or Clinical Assessment Tool\".\n\nStill must add these annotation properties: -- has respondents -- has target population -- selection criteria met -- validated for age ranges -- has cross-cultural adaptation -- freely available" xsd:string property_value: SCDO:0000340 "Parker RM, Baker DW, Williams MV, Nurss JR. The test of functional health literacy in adults: a new instrument for measuring patients' literacy skills. Journal of General Internal Medicine. 1995;10(10):537-41." xsd:string property_value: SCDO:0000484 "Spanish" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001146 name: The Duke Religion Index (DUREL) def: "The Duke Religion Index (DUREL) is a five item scale which measures religiosity in three areas: organizational religiosity (OR), non-organizational religiosity (NOR), and intrinsic religiosity. Two of the questions were derived from large epidemiologic studies and have been shown to have a strong predictive value for many health outcomes. OR has been related to less depression, more social support, better physical health, lower resource utilization, and lower mortality. NOR has been shown to be related to poorer physical health, and greater social support. The other three items were taken from the Hoge 10- item religiosity scale (Hodge et al 1972). The DUREL has high test-retest reliability (intra-class correlation = 0.91), high internal consistency (Cronbach's alpha's = 0.78--0.91)." [] synonym: "DUREL" EXACT [] synonym: "The Duke Religion Index" EXACT [] is_a: SCDO:0000953 ! Quality of Life Measure property_value: http://purl.org/dc/elements/1.1/source "Koenig, HG and Büssing A. (2010). The Duke University Religion Index (DUREL): A Five-Item Measure for Use in Epidemological Studies. Religions, 1, 78-85." xsd:string property_value: SCDO:0000303 "Request inclusion into NCIT below \"Research or Clinical Assessment Tool\".\n\nAlso requires these properties: -- has cross-cultural adaptation -- has translations" xsd:string property_value: SCDO:0000340 "Koenig, HG and Büssing A. (2010). The Duke University Religion Index (DUREL): A Five-Item Measure for Use in Epidemological Studies. Religions, 1, 78-85." xsd:string property_value: SCDO:0000481 "Self" xsd:string property_value: SCDO:0000482 "Adults with SCD" xsd:string property_value: SCDO:0001033 "Used in at least one SCD study" xsd:string property_value: SCDO:0001222 "Adults" xsd:string property_value: SCDO:0001335 "no" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001150 name: Therapeutic Device def: "A medical device used to prevent and treat medical conditions, or to alleviate pain or injury." [] is_a: SCDO:0001152 ! Therapeutics property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:0001151 name: Therapeutic Irrigation def: "The washing of a body cavity or surface by flowing water or solution for therapy or diagnosis." [] synonym: "Lavage" EXACT [] synonym: "Lavages" EXACT [] synonym: "Therapeutic Irrigations" EXACT [] xref: MESH:D007507 is_a: SCDO:0001129 ! Supportive Therapeutics property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D007507 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001151 xsd:string [Term] id: SCDO:0001152 name: Therapeutics def: "Procedures, agents or devices concerned with the remedial treatment or prevention of diseases." [] synonym: "Therapy" EXACT [] synonym: "Treatment" EXACT [] xref: MESH:D013812 is_a: SCDO:0001000 ! SCDO property_value: SCDO:0000303 "Chemotherapy to be added in this class? If so, would have to be specific types of chemotherapy relevant to the type of therapeutics class." xsd:string property_value: SCDO:0000303 "Include as subclasses: -- Prosthesis -- Phototherapy (therapy for Jaundice) -- Risk Reduction? Copy relevant disease modifiers below this." xsd:string property_value: SCDO:0000303 "Suggest update to description in MESH" xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D013812 property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0001158 name: Indel Mutation def: "A mutation named with the blend of insertion and deletion. It refers to a length difference between two alleles where it is unknowable if the difference was originally caused by a sequence insertion or by a sequence deletion. If the number of nucleotides in the insertion/deletion is not divisible by three, and it occurs in a protein coding region, it is also a frameshift mutation." [] synonym: "Insertion-Deletion Mutation" EXACT [] xref: MESH:D054643 is_a: IDOMAL:50000026 ! Mutation property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D054643 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001158 xsd:string [Term] id: SCDO:0001159 name: Tobacco Use Cessation def: "Ending the tobacco habits of smoking, chewing, or snuff use." [] synonym: "Tobacco Cessation" EXACT [] xref: MESH:D020340 is_a: SCDO:0000487 ! Health Behaviour relationship: SCDO:1000018 HP:0002138 ! treats Subarachnoid Hemorrhage property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D020340 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001159 xsd:string [Term] id: SCDO:0001164 name: Traditional Healer def: "A person who practices the art of healing using traditional medicine, a system of medicine based on cultural beliefs and practices handed down from generation to generation. The concept includes mystical and magical rituals (spiritual therapies); phytotherapy (plant therapy) and other treatments which may not be explained by modern medicine." [] synonym: "Faith Healer" EXACT [] synonym: "Folk Healer" EXACT [] synonym: "Healer" EXACT [] synonym: "Sangoma" EXACT [] synonym: "Shaman" EXACT [] is_a: SCDO:0000108 ! Beliefs About Remedies and Treatment property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: http://purl.org/dc/elements/1.1/source http://purl.bioontology.org/ontology/MESH/D008519 property_value: SCDO:0000303 "Request inclusion into relevant ontology, perhaps MESH." xsd:string property_value: SCDO:1000288 "Few but definitions not specific enough" xsd:string [Term] id: SCDO:0001165 name: Trail Making Test def: "An interviewer-administered, two-part test that requires the respondent to organize numerical and alphabetical sequences that are randomly distributed on a piece of paper. The protocol includes instructions for correcting mistakes and instructions for scoring based on speed and accuracy." [] synonym: "Executive Function - Adult" EXACT [] xref: phenX:131101 is_a: SCDO:0001304 ! Executive Function Measure property_value: SCDO:0000303 "Suggest update to label in PhenX." xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/131101 property_value: SCDO:0000479 "PhenX protocol: #131101" xsd:string property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0001166 name: Transcranial Doppler Ultrasonography def: "A non-invasive technique using ultrasound for the measurement of cerebrovascular hemodynamics, particularly cerebral blood flow velocity and cerebral collateral flow. With a high-intensity, low-frequency pulse probe, the intracranial arteries may be studied transtemporally, transorbitally, or from below the foramen magnum." [] synonym: "TCD" EXACT [] synonym: "Transcranial Doppler" EXACT [] synonym: "Ultrasonography, Doppler, Transcranial" EXACT [] xref: MESH:D017585 is_a: NCIT:C154865 ! Cerebral Blood Flow Assay is_a: NCIT:C17230 ! Ultrasound Test is_a: SCDO:0001129 ! Supportive Therapeutics relationship: SCDO:1000018 SCDO:0001111 ! treats Stroke relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D017585 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001166 xsd:string [Term] id: SCDO:0001167 name: Transcutaneous Electrical Nerve Stimulation def: "The use of specifically placed small electrodes to deliver electrical impulses across the skin to relieve pain. It is used less frequently to produce anesthesia." [] synonym: "Analgesic Cutaneous Electrostimulation" EXACT [] synonym: "Electroanalgesia" EXACT [] synonym: "Electroanalgesias" EXACT [] synonym: "Percutaneous Electrical Nerve Stimulation" EXACT [] synonym: "Percutaneous Electrical Neuromodulations" EXACT [] synonym: "Percutaneous Neuromodulation Therapies" EXACT [] synonym: "Percutaneous Neuromodulation Therapy" EXACT [] synonym: "TENS" EXACT [] synonym: "Transcutaneous Electric Stimulation" EXACT [] synonym: "Transcutaneous Electrical Stimulation" EXACT [] synonym: "Transcutaneous Nerve Stimulation" EXACT [] synonym: "Transdermal Electrostimulation" EXACT [] xref: MESH:D004561 is_a: SCDO:0000049 ! Analgesia relationship: SCDO:1000018 SCDO:0000851 ! treats Pain property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D004561 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001167 xsd:string [Term] id: SCDO:0001168 name: Transient Monocular Blindness def: "Temporary loss of vision in one eye due to a lack of blood flow to the retina." [] synonym: "Amaurosis Fugax" EXACT [] synonym: "Temporary Blindness" EXACT [] synonym: "TMB" EXACT [] is_a: HP:0000618 ! Blindness relationship: SCDO:0000663 NCIT:C38060 ! diagnosed using tool Eye Examination relationship: SCDO:0000663 SCDO:0000133 ! diagnosed using tool Blood Test relationship: SCDO:0000663 SCDO:0000417 ! diagnosed using tool Electrocardiography relationship: SCDO:0000664 NCIT:C16567 ! treated with Exercise relationship: SCDO:0000664 SCDO:0000497 ! treated with Healthy Diet relationship: SCDO:0000664 SCDO:0000498 ! treated with Healthy Lifestyle relationship: SCDO:0000664 SCDO:1000017 ! treated with Surgery relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.ncbi.nlm.nih.gov/pubmed/2261177 property_value: SCDO:0000303 "Request inclusion into HP below \"Blindness\"." xsd:string property_value: SCDO:0000340 https://www.healthshare.com.au/factsheets/6399-amaurosis-fugax-transient-monocular-visual-loss/6520.pdf property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001197 name: obsolete Twin Study def: "'Work consisting of reporting using a method of detecting genetic causes in human traits and genetic factors in behavior using sets of twins. [Curator team: []]'" [] xref: MESH:D018486 is_a: SCDO:0000941 ! obsolete Publication Type property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D018486 xsd:string is_obsolete: true [Term] id: SCDO:0001198 name: Twin Studies as Topic def: "Works about methods of detecting genetic etiology in human traits. The basic premise of twin studies is that monozygotic twins carry identical genes, while zygotic twins are genetically no more similar than two siblings born after separate pregnancies. (Last, J.M., A Dictionary of Epidemiology, 2d ed)" [] xref: MESH:D018433 is_a: SCDO:0300004 ! Epidemiologic Study Characteristics property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D018433 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001198 xsd:string [Term] id: SCDO:0001200 name: UGT1A1 def: "This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The preferred substrate of this enzyme is bilirubin, although it also has moderate activity with simple phenols, flavones, and C18 steroids. Mutations in this gene result in Crigler-Najjar syndromes types I and II and in Gilbert syndrome." [] synonym: "GNT1" EXACT [] synonym: "UDP Glucuronosyltransferase Family 1 Member A1" EXACT [] synonym: "UGT1" EXACT [] synonym: "UGT1A1 Gene" EXACT [] is_a: SCDO:0000810 ! Non-Globin Gene property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 https://www.ncbi.nlm.nih.gov/gene/54658 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0001204 name: Urban Location def: "The region surrounding a city. Most inhabitants of urban areas have nonagricultural jobs. Urban areas are very developed, meaning there is a density of human structures such as houses, commercial buildings, roads, bridges, and railways." [] synonym: "Urban" EXACT [] synonym: "Urban Area" EXACT [] synonym: "Urban Environment" EXACT [] synonym: "Urban Setting" EXACT [] is_a: GAZ:00000448 ! Geographic Location is_a: SCDO:0000496 ! Healthcare Access property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 https://www.nationalgeographic.org/encyclopedia/urban-area/ property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001205 name: Urinary Albumin Test def: "A bioassay to measure urine concentration of albumin, which is produced by the liver and is the most abundant protein in the blood." [] comment: In the protocol provided, albumin concentration is measured according to a fluorescent immunoassay (FIA). The protocol also lists reference ranges for healthy adults.\n\nThe criteria for clinically significant proteinuria have been changed from an albumin-creatinine ratio (ACR) of 30 mg/mmol or more to 3 mg/mmol or more. This is because there is evidence that the risk of adverse outcomes is a continuum and starts at an ACR well below 30 mg/mmol.\n\nThe Sickle Cell Disease Research and Scientific Panel notes that the terms "microalbuminuria" and "macroalbuminuria" have been used clinically to describe different levels of abnormal albumin excretion rate: 30-299 mg/g urine creatinine, and >300 mg/gr urine creatinine, for microalbuminuria and macroalbuminuria, respectively. Recently, a new terminology has been proposed: "low level albuminuria" instead of microalbuminuia, and "high level albuminuria" for macroalbuminuria, since the older terminology could be interpreted as measuring different molecular forms of albumin. \n\nBecause albuminuria may be affected by non-pathological factors (exercise, menstruation contamination, biological variability, etc.), abnormal values should be confirmed within 1-2 months. is_a: NCIT:C17241 ! Urine Test is_a: SCDO:0000676 ! Kidney Function Test relationship: SCDO:0001297 CMO:0000003 ! has essential measure Blood Pressure Measurement relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:0001297 SCDO:0000567 ! has essential measure History of Kidney Failure Diagnostic Instrument relationship: SCDO:0001297 SCDO:0000570 ! has essential measure History of Type I and Type 2 Diabetes Diagnostic Instrument relationship: SCDO:1000194 SCDO:0001209 ! measures Urine Albumin Concentration relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK property_value: http://purl.org/dc/elements/1.1/source http://patient.info/doctor/microalbuminuria property_value: SCDO:0000303 "Label different from source's \"Urinary Microalbumin - Assay\"" xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/141501 property_value: SCDO:0000479 https://wwwn.cdc.gov/nchs/data/nhanes/2017-2018/labmethods/ALB-CR-J-MET-Urine-Albumin-508.pdf property_value: SCDO:0000479 "PhenX protocol: Urinary Microalbumin Assay #141501" xsd:string property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0001206 name: Urinary Creatinine Test def: "A bioassay to measure urine concentration of creatinine, a muscle metabolite that is filtered out of blood by the kidneys." [] synonym: "Urinary Creatinine Assay" EXACT [] synonym: "Urine Creatinine Analysis" EXACT [] xref: phenX:141601 is_a: NCIT:C17241 ! Urine Test is_a: SCDO:0000676 ! Kidney Function Test relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:1000194 SCDO:0001213 ! measures Urine Creatinine Concentration relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/141601 property_value: SCDO:0000479 https://wwwn.cdc.gov/nchs/data/nhanes/2017-2018/labmethods/ALB-CR-J-MET-Urine-Creatinine-508.pdf property_value: SCDO:0000479 "PhenX protocol: Urinary Creatinine - Assay #141601" xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001206 xsd:string [Term] id: SCDO:0001207 name: Urinary Protein Measurement def: "Any measurement of protein present in urine." [] xref: CMO:0000770 is_a: CMO:0000256 ! Urine Measurement relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK property_value: SCDO:0000303 "Suggest update to description in CMO." xsd:string property_value: SCDO:0000340 CMO:0000770 property_value: SCDO:1000288 "Suggest update to description (currently no description provided)." xsd:string [Term] id: SCDO:0001208 name: deprecated Urinary System def: "The organs and passageways concerned with the production and excretion of urine, including the kidneys, ureters, urinary bladder, and urethra." [] xref: BTO:0003092 is_a: SCDO:0001336 ! from phenotype property_value: SCDO:0000340 http://purl.obolibrary.org/obo/BTO_0003092 xsd:string is_obsolete: true replaced_by: SCDO:0001347 [Term] id: SCDO:0001209 name: Urine Albumin Concentration def: "The amount of albumin in a specified volume of urine." [] comment: Urine albumin levels which are above normal but not detectable with routine protein testing are referred to as low level albuminuria (the old term is microalbuminuria).\nBecause albuminuria may be affected by non-pathological factors (exercise, menstruation contamination, biological variability, etc.), abnormal values should be confirmed within 1-2 months. synonym: "Urinary Albumin Concentration" EXACT [] synonym: "Urinary Albumin Level" EXACT [] synonym: "Urine Albumin Level" EXACT [] xref: CMO:0000130 is_a: SCDO:0001207 ! Urinary Protein Measurement relationship: SCDO:0001297 CMO:0000003 ! has essential measure Blood Pressure Measurement relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:0001297 SCDO:0000567 ! has essential measure History of Kidney Failure Diagnostic Instrument relationship: SCDO:0001297 SCDO:0000570 ! has essential measure History of Type I and Type 2 Diabetes Diagnostic Instrument relationship: SCDO:1000190 SCDO:0001205 ! obtained via diagnostic tool Urinary Albumin Test relationship: SCDO:1000772 HP:0012594 ! has possible finding Low Level Albuminuria relationship: SCDO:1000772 SCDO:1000201 ! has possible finding High Level Albuminuria relationship: SCDO:1000772 SCDO:1000836 ! has possible finding Normal Urine Albumin Concentration relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK property_value: http://purl.org/dc/elements/1.1/source https://www.phenxtoolkit.org/protocols/view/141501 property_value: SCDO:0000303 "Suggest that the CMO removes the second part of the definition and puts as comment, as we have done. Also suggest the change to this second part." xsd:string property_value: SCDO:0000340 CMO:0000130 property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0001210 name: Urine Albumin Excretion Rate def: "The amount of albumin excreted into the urine within a specified period of time." [] comment: If the level of albumin in the urine is above normal but not high enough to be detectable with routine protein testing it is referred to as low level albuminuria (the old term is microalbuminuria). synonym: "Urinary Albumin Excretion Rate" EXACT [] xref: CMO:0000757 is_a: SCDO:0001207 ! Urinary Protein Measurement property_value: SCDO:0000303 "Suggest that the CMO removes the second part of the definition and puts as comment, as we have done. Also suggest the change to this second part." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CMO_0000757 xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0001212 name: Urine Albumin-Creatinine Ratio def: "A comparison of urine microalbumin, that is, a level of albumin in the urine which is above normal but not detectable with routine protein testing, to the amount of creatinine in a specified volume of urine. Often expressed as albumin concentration divided by creatinine concentration times 1000 mg per gram." [] synonym: "ACR" EXACT [] synonym: "ALBCREAT" EXACT [] synonym: "Albumin To Creatinine Protein Ratio Measurement" EXACT [] synonym: "Albumin-Creatinine Ratio" EXACT [] synonym: "Albumin/Creatinine Ratio" EXACT [] synonym: "Microalbumin/Creatinine Ratio" EXACT [] synonym: "UACR" EXACT [] synonym: "Urinary Albumin-Creatinine Ratio" EXACT [] synonym: "Urine Albumin Level to Urine Creatinine Level Ratio" EXACT [] synonym: "Urine Microalbumin-Creatinine Ratio" EXACT [] xref: CMO:0000384 is_a: SCDO:0001207 ! Urinary Protein Measurement property_value: SCDO:0000303 "Suggest update to description as we have done." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CMO_0000384 xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0001213 name: Urine Creatinine Concentration def: "The concentration of creatinine in a urine specimen." [] synonym: "Urinary Creatinine Concentration" EXACT [] synonym: "Urine Creatinine Amount" EXACT [] synonym: "Urine Creatinine Concentration Measurement Datum" EXACT [] synonym: "Urine Creatinine Level" EXACT [] is_a: CMO:0000256 ! Urine Measurement relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:1000190 SCDO:0001206 ! obtained via diagnostic tool Urinary Creatinine Test relationship: SCDO:1000772 MP:0011470 ! has possible finding Increased Urine Creatinine Level relationship: SCDO:1000772 MP:0011471 ! has possible finding Decreased Urine Creatinine Level relationship: SCDO:1000772 SCDO:1000837 ! has possible finding Normal Urine Creatinine Level property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source ONSTR?p=classes&conceptid=http%3A%2F%2Fonstr.googlecode.com%2Fsvn%2Ftags%2FcurrentRelease%2F2014-09-03%2FONSTR.owl%23ONSTR:9965048 property_value: SCDO:0000303 "Request inclusion below \"urine creatinine measurement\" in the CMO." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001215 name: Urine Protein Sulfosalicylic Acid Precipitation Test def: "A method in which sulfosalicylic acid (that is, the SSA reagent) is added to a small and equal volume of clear urine. The acidification causes precipitation of protein in the sample (seen as increasing turbidity), which can be subjectively quantitated visually or more precisely quantitated using photometry." [] synonym: "SSA Protein Precipitation Test" EXACT [] synonym: "Urine SSA Turbidimetry" EXACT [] synonym: "Urine Sulfosalicylic Acid Turbidimetry" EXACT [] synonym: "Urine Turbidimetry with Sulfosalicylic Acid" EXACT [] xref: MMO:0000504 is_a: SCDO:0000120 ! Biochemical Assay property_value: SCDO:0000340 http://purl.obolibrary.org/obo/MMO_0000504 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001215 xsd:string [Term] id: SCDO:0001218 name: obsolete Urology def: "The medical specialty concerned with the study, diagnosis, and treatment of diseases of the genitourinary tract." [] xref: NCIT:C17243 is_a: SCDO:0001208 ! deprecated Urinary System property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C17243 xsd:string is_obsolete: true [Term] id: SCDO:0001223 name: Validation Studies def: "Works consisting of research using processes by which the reliability and relevance of a procedure for a specific purpose are established." [] xref: MESH:D023361 is_a: SCDO:0300005 ! Research Characteristics property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D023361 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001223 xsd:string [Term] id: SCDO:0001224 name: Vaping def: "Smoking vapors produced from electronic nicotene delivery systems." [] synonym: "Electronic Cigarrete Use" EXACT [] xref: MESH:D000072137 is_a: SCDO:0001079 ! Smoking property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D000072137 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001224 xsd:string [Term] id: SCDO:0001228 name: Endothelial Function Test def: "A measure of vascular endothelial cell response to stimulation, for example, by vasoactive substances released by or those that interact with the vascular endothelium." [] synonym: "Assessment of Endothelial Cell Function" EXACT [] synonym: "Endothelium Dysfunction Test" EXACT [] synonym: "Vascular Endothelial Function Test" EXACT [] is_a: SCDO:0000902 ! Physiological Assay property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://circ.ahajournals.org/content/108/17/2054 xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001229 name: Vaso-Occlusive Crisis def: "Pain resulting from tissue ischemia as a result of blockage of blood vessels, occurring in a variety of vascular beds, but most commonly in the bone or bone marrow and requiring analgesic medication." [] synonym: "Acute Pain Crisis" EXACT [] synonym: "Sickle Crisis" EXACT [] synonym: "Vaso-Occlusive Crisis" EXACT [] synonym: "Vaso-Occlusive Episodes" EXACT [] synonym: "VOC" EXACT [] is_a: SCDO:0001023 ! SCD Related Pain relationship: SCDO:1000202 SCDO:0008623 ! caused by Vaso-Occlusion relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "Evidence-Based Management of Sickle Cell Disease: Expert Panel Report (EPR), 2014" xsd:string property_value: SCDO:1000288 "Few but definitions not specific enough" xsd:string [Term] id: SCDO:0001230 name: Venipuncture def: "Extraction of blood from a vein using a needle. In human, the basilic, cephalic and median cubital veins are most commonly used as well as the femoral vein." [] xref: MMO:0000090 is_a: SCDO:0000082 ! Diagnostic Technique, Method, Test or Assay property_value: SCDO:0000340 http://purl.obolibrary.org/obo/MMO_0000090 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001230 xsd:string [Term] id: SCDO:0001232 name: Vineland Adaptive Behavior Scales, Second Edition (Vineland-II) def: "A parent or caregiver questionnaire administered as part of a structured interview that measures day-to-day performance on communication, daily living, socialization, and motor skills. Standard scores can be derived for communication, daily living, socialization, and motor skills subtests or combined to create an Adaptive Behavior Composite (ABC)." [] synonym: "VABS" EXACT [] synonym: "Vineland Adaptive Behavior Scales" EXACT [] synonym: "Vineland-II" EXACT [] xref: phenX:820601 is_a: SCDO:0000953 ! Quality of Life Measure is_a: SCDO:1000297 ! Quality of Life and Care Diagnostic Instrument relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age property_value: SCDO:0000303 "Suggest update to label in PhenX as we have done." xsd:string property_value: SCDO:0000340 http://www.phenxtoolkit.org/index.php?pageLink=browse.protocoldetails&id=820601 xsd:string property_value: SCDO:0000479 "PhenX protocol: Adaptive Behavior/Adaptive Function #820601" xsd:string property_value: SCDO:0000481 "Proxy" xsd:string property_value: SCDO:0000486 "This measure can be used to identify individuals with developmental disabilities or delays, perform diagnostic evaluations, monitor progress, and develop programs." xsd:string property_value: SCDO:0001222 "All ages from birth through age 90" xsd:string property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0001234 name: Virus def: "Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells." [] synonym: "Viruses" EXACT [] xref: MESH:D014780 is_a: OBI:0000925 ! Infectious Agent property_value: SCDO:0000303 "Add sub-classes:\nHepatitis C Virus (term in NCIT)\nHepatitis B Virus (term not found in other ontologies)" xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D014780 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001234 xsd:string [Term] id: SCDO:0001237 name: Vitrectomy def: "Removal of the whole or part of the vitreous body in treating endophthalmitis, diabetic retinopathy, retinal detachment, intraocular foreign bodies, and some types of glaucoma." [] synonym: "Vitrectomies" EXACT [] xref: MESH:D014821 is_a: SCDO:0000833 ! Ophthalmologic Surgical Procedure relationship: SCDO:1000018 HP:0007902 ! treats Vitreous Hemorrhage property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D014821 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001237 xsd:string [Term] id: SCDO:0001240 name: Western Blot def: "Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes." [] synonym: "Western Immunoblot" EXACT [] xref: MESH:D015153 is_a: SCDO:0000424 ! Electrophoresis property_value: SCDO:0000303 "Can this term also be below \"Immunological Assay\"?" xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D015153 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001240 xsd:string [Term] id: SCDO:0001241 name: Wheezing Episode with Co-Morbid Asthma def: "An acute onset of wheezing in a person with SCD and co-morbid asthma." [] synonym: "Asthma Attack" EXACT [] is_a: SCDO:0000895 ! Phenotype of Sickle Cell Disease relationship: SCDO:0000663 NCIT:C18772 ! diagnosed using tool Personal Medical History relationship: SCDO:0000663 SCDO:0000166 ! diagnosed using tool Bronchodilator Responsiveness Test relationship: SCDO:0000663 SCDO:0000898 ! diagnosed using tool Physical Examination relationship: SCDO:0000663 SCDO:0000942 ! diagnosed using tool Pulmonary Function Test property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: http://purl.org/dc/elements/1.1/source "Glassberg, Jeffrey A., Robert Strunk, and Michael R. DeBaun. “Wheezing in Children with Sickle Cell Disease.” Current opinion in pediatrics 26.1 (2014): 9–18. PMC. Web. 2 Aug. 2017." xsd:string property_value: http://purl.org/dc/elements/1.1/source "Paediatr Respir Rev. 2014 Mar;15(1):13-6. doi: 10.1016/j.prrv.2013.10.005. Epub 2013 Oct 31." xsd:string property_value: SCDO:0000340 "Glassberg, Jeffrey A., Robert Strunk, and Michael R. DeBaun. “Wheezing in Children with Sickle Cell Disease.” Current opinion in pediatrics 26.1 (2014): 9–18. PMC. Web. 2 Aug. 2017." xsd:string property_value: SCDO:0000340 "Paediatr Respir Rev. 2014 Mar;15(1):13-6. doi: 10.1016/j.prrv.2013.10.005. Epub 2013 Oct 31." xsd:string property_value: SCDO:0000661 "Synergistic inflammatory response due to both SCD and asthma." xsd:string property_value: SCDO:0000662 "Increased severity of episodes." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001246 name: Witchcraft def: "An act of employing sorcery (the use of power gained from the assistance or control of spirits), especially with malevolent intent, and the exercise of supernatural powers and alleged intercourse with the devil or a familiar. (From Webster, 3rd Ed)." [] synonym: "Sorceries" EXACT [] synonym: "Sorcery" EXACT [] xref: MESH:D018599 is_a: SCDO:0000107 ! Beliefs About Causes of Illness property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D018599 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001246 xsd:string [Term] id: SCDO:0001247 name: World Health Organisation Quality of Life Instrument (WHOQOL) def: "The WHOQOL is a quality of life assessment developed by the WHOQOL Group with fifteen international field centres, simultaneously, in an attempt to develop a quality of life assessment that would be applicable cross-culturally." [] synonym: "WHOQOL" EXACT [] synonym: "World Health Organisation Quality of Life Instrument" EXACT [] is_a: SCDO:0000953 ! Quality of Life Measure property_value: http://purl.org/dc/elements/1.1/source "WHOQOL Group (1993). Measuring quality of life: The development of the World Health Organisation quality of life instrument (WHOQOL). Geneva: WHO." xsd:string property_value: SCDO:0000303 "Request inclusion into NCIT below \"Research or Clinical Assessment Tool\".\n\nStill must add these annotation properties: -- validated for age ranges -- has cross-cultural adaptation -- freely available -- has translations" xsd:string property_value: SCDO:0000481 "Self" xsd:string property_value: SCDO:0000482 "Healthy people; Clinic patients" xsd:string property_value: SCDO:0001033 "Demonstrated validity with SCD populations; at least two publications using the measure" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001249 name: X-Ray Image def: "The visual output that an X-ray machine produces." [] is_a: SCDO:1000313 ! Diagnostic Device Visual Output relationship: SCDO:1000190 SCDO:0000963 ! obtained via diagnostic tool Radiography relationship: SCDO:1000193 OBI:0001138 ! output of diagnostic device X-Ray Machine relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology." xsd:string property_value: SCDO:1000288 "Not relevant to context of sickle cell" xsd:string [Term] id: SCDO:0001250 name: X-Ray Image of Chest def: "The visual output that an X-ray machine produces when imaging the chest." [] synonym: "Chest X-Ray Image" EXACT [] is_a: SCDO:0001249 ! X-Ray Image relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:1000190 SCDO:0000217 ! obtained via diagnostic tool Chest X-Ray relationship: SCDO:1000193 OBI:0001138 ! output of diagnostic device X-Ray Machine relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology." xsd:string property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:0001252 name: X-Ray Therapy def: "Medical treatment involving the use of controlled amounts of X-Rays." [] synonym: "Roentgenotherapy" EXACT [] synonym: "X Ray Therapy" EXACT [] synonym: "X-ray Beam Therapy" EXACT [] synonym: "Xray Therapy" EXACT [] xref: MESH:D014964 is_a: SCDO:0001129 ! Supportive Therapeutics relationship: SCDO:1000018 OBI:1110053 ! treats Cancer property_value: http://purl.org/dc/elements/1.1/source http://www.freethesaurus.com/x-ray+therapy property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D014964 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001252 xsd:string [Term] id: SCDO:0001253 name: X-Rays def: "Penetrating, high-energy electromagnetic radiation emitted when the inner orbital electrons of an atom are excited and release radiant energy. X-ray wavelengths range from 1 pm to 10 nm. Hard X-rays are the higher energy, shorter wavelength X-rays. Soft x-rays or Grenz rays are less energetic and longer in wavelength. The short wavelength end of the X-ray spectrum overlaps the gamma rays wavelength range. The distinction between gamma rays and X-rays is based on their radiation source." [] synonym: "X-Radiation" EXACT [] synonym: "X-Ray Electromagnetic Radiation" EXACT [] xref: MESH:D014965 is_a: OBI:0001138 ! X-Ray Machine relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000303 "This should probably be removed." xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D014965 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001253 xsd:string [Term] id: SCDO:0001267 name: EuroQol Five Dimensions Questionnaire (EQ-5D) def: "The EQ-5D is a widely-used generic instrument for describing health-related quality of life states in five dimensions scored from 1 to 3 or 1 to 5, and a visual analogue scale to record self-rated health state from 0 to100. These provide a simple descriptive profile and a single index value for health status. The EQ-5D can also be used to calculate health utilities and determine the quality-adjusted life years associated with a health state. There is also a youth version (EQ-5D-Y)." [] synonym: "EQ-5D" EXACT [] synonym: "European Quality of Life Five Dimension Five Level Scale Questionnaire" EXACT [] synonym: "EuroQol Five Dimension Self-Report Questionnaire" EXACT [] synonym: "EuroQol Five Dimensions Questionnaire" EXACT [] synonym: "EuroQol Five-Dimensional Questionnaire" EXACT [] is_a: SCDO:0000951 ! Quality of Life and Care Measure property_value: http://purl.org/dc/elements/1.1/source "Anie KA, Grocott H, White L, Dzingina M, Rogers G, Cho G (2012). Patient self-assessment of hospital pain, mood and health-related quality of life in adults with sickle cell disease. BMJ Open, 2, e001274. doi:10.1136/bmjopen-2012-001274." xsd:string property_value: http://purl.org/dc/elements/1.1/source "Howard, J, Malfroy, M, Llewelyn, C et al. The Transfusion Alternatives Preoperatively in Sickle Cell Disease (TAPS) study: a randomised, controlled, multicentre clinical trial. Lancet. 2013; 381(9870):930–938." xsd:string property_value: http://purl.org/dc/elements/1.1/source "The EuroQol Group. EuroQol-a new facility for the measurement of health-related quality of life. Health Policy. 1990; 16(3):199-208." xsd:string property_value: SCDO:0000340 "The EuroQol Group. EuroQol-a new facility for the measurement of health-related quality of life. Health Policy. 1990; 16(3):199-208." xsd:string property_value: SCDO:0000470 "Multiple countries and cultural groups" xsd:string property_value: SCDO:0000481 "Self" xsd:string property_value: SCDO:0000482 "Healthy People; Clinic Patients" xsd:string property_value: SCDO:0001033 "Widely used around the world, also used in SCD" xsd:string property_value: SCDO:0001222 "Adults and Youth (8 to 18 years)" xsd:string property_value: SCDO:1000288 "Few but definitions not specific enough" xsd:string [Term] id: SCDO:0001268 name: Functional Assessment of Chronic Illness Therapy-Spirituality (FACIT-Sp) Scale def: "The FACIT-Sp is a 12-item measure that asks participants to indicate how true various statements are about them on a Likert scale of 0 (\"not at all\") to 4 (\"very much\"). Responses on the FACIT-Sp are summed to create a total score, ranging from 0 to 48, with higher scores representing higher levels of spirituality." [] synonym: "FACIT-Sp Scale" EXACT [] synonym: "Functional Assessment of Chronic Illness Therapy-Spirituality Scale" EXACT [] is_a: SCDO:0000953 ! Quality of Life Measure property_value: http://purl.org/dc/elements/1.1/source "Peterman AH, Fitchett G, Brady MJ, et al. Measuring spiritual well-being in people with cancer: the functional assessment of chronic illness therapy—Spiritual Well-being Scale (FACIT- Sp). Ann Behav Med. 2002;24:49–58." xsd:string property_value: SCDO:0000303 "Request inclusion into NCIT below \"Research or Clinical Assessment Tool\"." xsd:string property_value: SCDO:0000340 "Peterman AH, Fitchett G, Brady MJ, et al. Measuring spiritual well-being in people with cancer: the functional assessment of chronic illness therapy—Spiritual Well-being Scale (FACIT- Sp). Ann Behav Med. 2002;24:49–58." xsd:string property_value: SCDO:0000481 "Self; Proxy (Parent report)" xsd:string property_value: SCDO:0000482 "Children with SCD and their parents" xsd:string property_value: SCDO:0001033 "Demonstrated validity in SCD studies." xsd:string property_value: SCDO:0001222 "Children and adults" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001284 name: Behaviour Therapy def: "The application of modern theories of learning and conditioning in the treatment of behavior disorders." [] synonym: "Behavior Modification" EXACT [] synonym: "Behavior Modifications" EXACT [] synonym: "Behavior Therapies" EXACT [] synonym: "Behavior Therapy" EXACT [] synonym: "Conditioning Therapies" EXACT [] synonym: "Conditioning Therapy" EXACT [] xref: MESH:D001521 is_a: SCDO:0000940 ! Psychotherapy relationship: SCDO:1000015 SCDO:0000106 ! modifies Behaviour relationship: SCDO:1000018 HP:0001513 ! treats Obesity property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D001521 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001284 xsd:string [Term] id: SCDO:0001288 name: Cluster Headache def: "A primary headache disorder that is characterized by severe, strictly unilateral pain which is orbital, supraorbital, temporal or in any combination of these sites, lasting 15-180 min. occurring 1 to 8 times a day. The attacks are associated with one or more of the following, all of which are ipsilateral: conjunctival injection, lacrimation, nasal congestion, rhinorrhea, facial sweating, eyelid edema, and miosis." [] synonym: "Acute Severe Headache" EXACT [] synonym: "Cluster Headaches" EXACT [] synonym: "Migraine, Neuralgic" EXACT [] xref: MESH:D003027 is_a: HP:0012638 ! Abnormal Nervous System Physiology is_a: SCDO:0000851 ! Pain is_a: SCDO:1000000 ! Acute Phenotype relationship: SCDO:0000663 OGMS:0000088 ! diagnosed using tool Patient Symptom Report relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D003027 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001288 xsd:string [Term] id: SCDO:0001292 name: D57.00 Hb-SS disease with crisis, unspecified def: "Broad term used to describe several different acute conditions occurring with sickle cell disease, including aplastic crisis, hemolytic crisis, and vasoocclusive crisis." [] synonym: "D57.00" EXACT [] synonym: "Hb-SS disease with (painful) crisis NOS" EXACT [] synonym: "Hb-SS disease with crisis, unspecified" EXACT [] synonym: "Hb-SS disease with vasoocclusive pain NOS" EXACT [] synonym: "Hemoglobin S sickling disorder with crisis" EXACT [] synonym: "Sickle cell anemia, crisis" EXACT [] xref: ICD10CM:D57.00 is_a: SCDO:0000312 ! D57.0 Hb-SS disease with crisis relationship: SCDO:1000785 NCIT:C131682 ! code requires phenotype Sickle Cell Disease-SS relationship: SCDO:1000785 SCDO:0001053 ! code requires phenotype Sickle Cell Painful Event property_value: http://purl.org/dc/elements/1.1/source http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.00 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001292 xsd:string [Term] id: SCDO:0001295 name: Electrocardiograph def: "An instrument used in the detection and diagnosis of heart abnormalities that measures electrical potentials on the body surface and generates a record of the electrical currents associated with heart muscle activity." [] synonym: "Cardiograph" EXACT [] synonym: "Electrocardiographic Instrument" EXACT [] is_a: SCDO:0000376 ! Diagnostic Device relationship: SCDO:1000191 SCDO:0000417 ! used by diagnostic tool Electrocardiography property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://en.wiktionary.org/wiki/electrocardiograph xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0001296 name: Erythrocyte Transfusion def: "The transfer of erythrocytes from a donor to a recipient or reinfusion to the donor." [] synonym: "Erythrocyte Transfusions" EXACT [] synonym: "Red Blood Cell Transfusion" EXACT [] synonym: "Red Blood Cell Transfusions" EXACT [] synonym: "Transfusion, Erythrocyte" EXACT [] synonym: "Transfusions, Erythrocyte" EXACT [] xref: MESH:D017707 is_a: SCDO:0000138 ! Blood Component Transfusion relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D017707 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001296 xsd:string [Term] id: SCDO:0001299 name: Evaluation Studies def: "Works consisting of studies determining the effectiveness or utility of processes, personnel, and equipment." [] xref: MESH:D023362 is_a: SCDO:0300005 ! Research Characteristics property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D023362 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001299 xsd:string [Term] id: SCDO:0001303 name: Exchange Transfusion, Whole Blood def: "Repetitive withdrawal of small amounts of blood and replacement with donor blood until a large proportion of the blood volume has been exchanged. Used in treatment of fetal erythroblastosis, hepatic coma, sickle cell anemia, disseminated intravascular coagulation, septicemia, burns, thrombotic thrombopenic purpura, and fulminant malaria." [] synonym: "Exchange Blood Transfusion" EXACT [] xref: MESH:D005078 is_a: SCDO:0000147 ! Blood Transfusion relationship: SCDO:1000018 HP:0001789 ! treats Hydrops Fetalis property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D005078 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001303 xsd:string [Term] id: SCDO:0001304 name: Executive Function Measure def: "An interviewer-administered test to measure a respondent's system of high-level cognitive functions such as abstract thinking, rule acquisition, cognitive flexibility, and goal-oriented behavior." [] xref: phenX:131100 is_a: NCIT:C91105 ! Clinical or Research Assessment Questionnaire is_a: SCDO:1000033 ! Diagnostic Instrument property_value: SCDO:0000340 http://purl.bioontology.org/ontology/phenX/131100 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001304 xsd:string [Term] id: SCDO:0001312 name: deprecated Eye def: "The organ of vision that consists of the eyeball and the optic nerve." [] synonym: "Oculus" EXACT [] is_a: SCDO:0001336 ! from phenotype property_value: SCDO:0000340 http://medical-dictionary.thefreedictionary.com/eye xsd:string is_obsolete: true replaced_by: SCDO:1000294 [Term] id: SCDO:0001316 name: obsolete Facial Paralysis def: "Facial paralysis is loss of facial movement because of nerve damage." [] xref: DOID:13934 is_a: SCDO:0000359 ! deprecated terms property_value: SCDO:0000303 "Is this not the same thing as \"Facial Nerve Palsy\"?" xsd:string is_obsolete: true replaced_by: SCDO:0001315 [Term] id: SCDO:0001319 name: Fatigue def: "Inability to function due to tiredness related to sickle cell disease." [] synonym: "Fatigability" EXACT [] synonym: "Fatigable" EXACT [] synonym: "Lassitude" EXACT [] synonym: "Tiredness" EXACT [] is_a: HP:0025142 ! Constitutional Symptom is_a: SCDO:0000954 ! Quality of Life Related SCD Symptoms and Complications relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000303 "Use the literature cited here to link to other phenotypes." xsd:string property_value: SCDO:1000288 "Not relevant to context of sickle cell" xsd:string property_value: seeAlso http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3076611/ [Term] id: SCDO:0001320 name: Feasibility Studies def: "Studies to determine the advantages or disadvantages, practicability, or capability of accomplishing a projected plan, study, or project." [] xref: MESH:D005240 is_a: SCDO:0300004 ! Epidemiologic Study Characteristics property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D005240 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001320 xsd:string [Term] id: SCDO:0001321 name: Fentanyl def: "A potent narcotic analgesic, abuse of which leads to habituation or addiction. It is primarily a mu-opioid agonist. Fentanyl is also used as an adjunct to general anesthetics, and as an anesthetic for induction and maintenance." [] synonym: "Duragesic" EXACT [] synonym: "Durogesic" EXACT [] synonym: "N-phenyl-N-[1-(2-phenylethyl)piperidin-4-yl]propanamide" EXACT [] synonym: "Phentanyl" EXACT [] xref: MESH:D005283 is_a: CHEBI:35482 ! Opioid relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: SCDO:0000303 "Were these specific synonyms selected form the long list in the description source because of specific relevance to SCD?" xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D005283 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001321 xsd:string [Term] id: SCDO:0001322 name: Serum Ferritin Test def: "A bioassay to measure the serum concentration of ferritin (i.e., iron)." [] synonym: "Ferritin Blood Test" EXACT [] synonym: "Ferritin Measurement" EXACT [] synonym: "Plasma Ferritin Assay" EXACT [] synonym: "Plasma Ferritin Test" EXACT [] synonym: "Serum Ferritin Assay" EXACT [] xref: phenX:811301 is_a: SCDO:0000133 ! Blood Test relationship: SCDO:0001297 NCIT:C16564 ! has essential measure Ethnic Group relationship: SCDO:0001297 NCIT:C17049 ! has essential measure Race relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:1000194 SCDO:0001323 ! measures Serum Ferritin Level relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania property_value: SCDO:0000303 "Suggest update to label in PhenX (from \"Serum or Plasma Ferritin\")" xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/811301 property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:0001323 name: Serum Ferritin Level def: "The amount of ferritin found in a specified volume of serum." [] synonym: "Blood Serum Ferritin Concentration" EXACT [] synonym: "Blood Serum Ferritin Concentration Measurement Datum" EXACT [] is_a: CMO:0000023 ! Blood Chemistry Measurement relationship: SCDO:0001297 NCIT:C16564 ! has essential measure Ethnic Group relationship: SCDO:0001297 NCIT:C17049 ! has essential measure Race relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:1000190 SCDO:0001322 ! obtained via diagnostic tool Serum Ferritin Test relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Suggest update to description and label of \"ferritin measurement\" in the EFO." xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0001325 name: Flow Cytometer def: "An instrument which is used to count and sort microscopic particles suspended in a buffer. This instrument consists of a flow cell, at least one lamp or laser, a variable number of emission detectors or photomultipliers, a system that converts analog signals to digital, and a computer to run the system and collect and analyze the data output." [] xref: NPO:1769 is_a: SCDO:0000376 ! Diagnostic Device relationship: SCDO:1000191 SCDO:0001326 ! used by diagnostic tool Flow Cytometry property_value: SCDO:0000303 "Not sure whether this can be classified as a \"Medical Device\"." xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/npo#NPO_1769 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001325 xsd:string [Term] id: SCDO:0001326 name: Flow Cytometry def: "Flow cytometry uses the principles of light scattering and fluorescence from fluorochrome molecules to generate specific multi-parameter data from particles and cells in the size range of 0.5um to 40um diameter." [] xref: BAO:0000005 is_a: SCDO:0000896 ! Physical Detection Method relationship: SCDO:1000192 SCDO:0001325 ! uses diagnostic device Flow Cytometer relationship: SCDO:1000194 SCDO:0000975 ! measures Red Blood Cell Microparticles Level property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/BAO/?p=classes&conceptid=http%3A%2F%2Fwww.bioassayontology.org%2Fbao%23BAO_0000005&jump_to_nav=true property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001326 xsd:string [Term] id: SCDO:0001327 name: Fluorescein Angiography def: "Visualization of a vascular system after intravenous injection of a fluorescein solution. The images may be photographed or televised. It is used especially in studying the retinal and uveal vasculature." [] synonym: "Fluorescence Angiography" EXACT [] xref: MESH:D005451 is_a: OBI:0000185 ! Imaging Assay relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D005451 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001327 xsd:string [Term] id: SCDO:0001328 name: Focal Dystonia def: "A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." [] xref: ORPHA:1866 is_a: HP:0012638 ! Abnormal Nervous System Physiology property_value: SCDO:0000340 Orphanet:1866 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001328 xsd:string [Term] id: SCDO:0001329 name: Folic Acid def: "A member of the vitamin B family that stimulates the hematopoietic system. It is present in the liver and kidney and is found in mushrooms, spinach, yeast, green leaves, and grasses (poaceae). Folic acid is used in the treatment and prevention of folate deficiencies and megaloblastic anemia." [] synonym: "Folacin" EXACT [] synonym: "Folate" EXACT [] synonym: "Folvite" EXACT [] synonym: "L-Glutamic acid, N-(4-(((2-amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-" EXACT [] synonym: "Pteroylglutamic Acid" EXACT [] synonym: "Vitamin B9" EXACT [] synonym: "Vitamin M" EXACT [] xref: MESH:D005492 is_a: CHEBI:23888 ! Drug is_a: SCDO:0000922 ! Preventative Therapeutics is_a: SCDO:0001133 ! Symptomatic Therapeutics relationship: SCDO:1000018 EUPATH:0000215 ! treats Severe Anemia relationship: SCDO:1000018 NCIT:C155310 ! treats Sickle Cell Disease-SD relationship: SCDO:1000018 SCDO:0000115 ! treats Beta Zero Thalassemia relationship: SCDO:1000018 SCDO:0000519 ! treats Hemoglobin C Disease relationship: SCDO:1000018 SCDO:0000530 ! treats Hemoglobin E Disease relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D005492 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001329 xsd:string [Term] id: SCDO:0001330 name: Follow-Up Studies def: "Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease." [] synonym: "Follow Up Studies" EXACT [] synonym: "Follow-Up Study" EXACT [] synonym: "Followup Studies" EXACT [] xref: MESH:D005500 is_a: SCDO:0000263 ! Cohort Studies property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D005500 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001330 xsd:string [Term] id: SCDO:0001334 name: Chronic Phenotype def: "An observable characteristic of disease that is persistent and long standing." [] xref: NCIT:C14141 xref: SIO:010056 is_a: HP:0000118 ! Abnormal Phenotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Clair Ingram)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C14141 xsd:string property_value: SCDO:0000340 http://semanticscience.org/resource/SIO_010056 xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001336 name: from phenotype def: "Terms deprecated in the \"Phenotype\" class." [] is_a: SCDO:0000359 ! deprecated terms [Term] id: SCDO:0001339 name: Functionality After Stroke Measure def: "A questionnaire to measure the health status of individuals who had a stroke." [] synonym: "Functionality After Stroke Diagnostic Instrument" EXACT [] xref: phenX:820700 is_a: SCDO:0000953 ! Quality of Life Measure is_a: SCDO:1000297 ! Quality of Life and Care Diagnostic Instrument relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/PHENX?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FphenX%2F820700 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001339 xsd:string [Term] id: SCDO:0001340 name: deprecated Gastrointestinal System def: "'The system concerned with the function and disorders of the gastrointestinal tract, including stomach, intestines, and associated organs including liver, pancreas and gall bladder. [Curator team: []]'" [] synonym: "gastrointestinal tract" EXACT [] is_a: SCDO:0001336 ! from phenotype property_value: SCDO:0000340 http://medical-dictionary.thefreedictionary.com/gastroenterology xsd:string is_obsolete: true replaced_by: SCDO:0000335 [Term] id: SCDO:0001342 name: Gene-Environment Interaction def: "Combined effects of genotypes and environmental factors together to affect phenotypic characteristics." [] xref: MESH:D059647 is_a: SCDO:0000391 ! Disease Modifier property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D059647 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001342 xsd:string [Term] id: SCDO:0001369 name: Genetic Variation def: "Deviation(s) in the nucleotide sequence of the genetic material of an individual from that typical of the group to which the individual belongs, or deviation(s) in the nucleotide sequence of the genetic material of offspring from that of its parents." [] xref: NCIT:C17248 is_a: SCDO:0000765 ! Genetic Phenomena relationship: SCDO:1000015 OGMS:0000023 ! modifies Phenotype property_value: SCDO:0000303 "Suggest update to description in NCIT" xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C17248 xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0001373 name: deprecated beta C mutation def: "'To be defined by an expert [Curator team: []]'" [] is_a: SCDO:0000359 ! deprecated terms property_value: SCDO:0000303 "made a synonym of HBB, GLU6LYS" xsd:string is_obsolete: true replaced_by: SCDO:1000041 [Term] id: SCDO:0001374 name: obsolete heterozygous beta c mutation is_a: SCDO:0000359 ! deprecated terms is_obsolete: true [Term] id: SCDO:0001375 name: obsolete homozygous beta c mutation is_a: SCDO:0000359 ! deprecated terms is_obsolete: true [Term] id: SCDO:0001376 name: deprecated beta E mutation def: "'To be defined by an expert [Curator team: []]'" [] is_a: SCDO:0000359 ! deprecated terms property_value: SCDO:0000303 "Made a synonym of \"HBB, GLU26LYS\"" xsd:string is_obsolete: true replaced_by: SCDO:1000042 [Term] id: SCDO:0001377 name: deprecated beta S mutation def: "'To be defined by an expert [Curator team: []]'" [] is_a: SCDO:0000359 ! deprecated terms property_value: SCDO:0000303 "Made a synonym of HBB, GLU6VAL" xsd:string is_obsolete: true replaced_by: SCDO:1000039 [Term] id: SCDO:0001378 name: HBA1 def: "This gene provides instructions for making a protein called alpha-globin, which is involved in oxygen transport. This protein is also produced from a nearly identical gene called HBA2." [] synonym: "HBA1 Gene" EXACT [] synonym: "Hemoglobin Subunit Alpha 1 Gene" EXACT [] synonym: "Hemoglobin, Alpha 1 Gene" EXACT [] xref: NCIT:C75429 is_a: SCDO:1000361 ! Alpha-Globin Gene property_value: SCDO:0000303 "Suggest update to description in NCIT." xsd:string property_value: SCDO:0000340 http://www.ontobee.org/ontology/NCIT?iri=http://purl.obolibrary.org/obo/NCIT_C75429 xsd:string property_value: SCDO:0000340 "synonyms" property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0001379 name: HBA2 def: "This gene provides instructions for making a protein called alpha-globin, which is involved in oxygen transport. This protein is also produced from a nearly identical gene called HBA1." [] synonym: "HBA2 Gene" EXACT [] synonym: "Hemoglobin Subunit Alpha 2 Gene" EXACT [] synonym: "Hemoglobin, Alpha 2 Gene" EXACT [] is_a: SCDO:1000361 ! Alpha-Globin Gene property_value: SCDO:0000303 "Suggest update to description in NCIT." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C75432 xsd:string property_value: SCDO:0000340 "synonyms" property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0001382 name: Hemoglobin Subunit Gamma def: "Gamma Globin is a type of polypeptide chain that when in combination with alpha globin chains forms fetal hemoglobin. Beta-Hemoglobin subunits gamma-1 (147 aa, ~16 kDa) and gamma-2 (147 aa, ~16 kDa) are encoded by the human HBG1 and HBG2 gene respectively, in the beta-globin gene cluster. These proteins play a role in the transport of oxygen to tissues of the fetal body." [] synonym: "Gamma-Globin" EXACT [] synonym: "Haemoglobin Gamma Chain" EXACT [] synonym: "Haemoglobin Subunit Gamma" EXACT [] synonym: "Hemoglobin Gamma Chain" EXACT [] is_a: SCDO:1000012 ! Beta-Globin Family Members property_value: http://purl.org/dc/elements/1.1/source http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C84982 property_value: SCDO:0000303 "Request inclusion into relevant ontology." xsd:string property_value: SCDO:0000340 https://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG1 xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001384 name: Reduced Alpha/Gamma Synthesis Ratio def: "A reduction in the ratio of production of alpha globin to that of gamma globin." [] synonym: "Increased Gamma/Alpha Synthesis Ratio" EXACT [] is_a: HP:0005560 ! Imbalanced Hemoglobin Synthesis relationship: SCDO:1000210 SCDO:0001386 ! has causal or contributing genetic variation Alpha-Globin Locus Deletion property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Nicole Vasilevsky)" xsd:string property_value: SCDO:0000303 "Request inclusion into the HPO below \"Imbalanced Hemoglobin Synthesis\"." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001385 name: Absence of Alpha Globin Synthesis with Gamma Globin Synthesis def: "The state, in utero or shortly after birth, in which all four alpha globin genes are deleted or inactivated resulting in absent alpha globin synthesis. If gamma globin synthesis persists, then the resulting phenotype is hemoglobin Barts (four gamma chains) and hemoglobin Bart hydrops fetalis." [] is_a: SCDO:0001384 ! Reduced Alpha/Gamma Synthesis Ratio relationship: SCDO:1000210 SCDO:0001387 ! has causal or contributing genetic variation Homozygous Deletion of HBA1 and HBA2 property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Clair Ingram)" xsd:string property_value: SCDO:0000303 "Request inclusion into HPO below \"Reduced Alpha/Gamma Synthesis Ratio\" (also requested for inclusion)." xsd:string property_value: SCDO:0000340 "Marengo-Rowe, A.J., 2007, January. The thalassemias and related disorders. In Baylor university medical center proceedings (Vol. 20, No. 1, pp. 27-31). Taylor & Francis." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001386 name: Alpha-Globin Locus Deletion def: "A deletion in or of the HBA1 or HBA2 gene that can result in some form of alpha thalassemia." [] synonym: "Alpha-Globin Cluster Deletion" EXACT [] synonym: "Alpha-Globin Gene Cluster Deletion" EXACT [] synonym: "HBA Locus Deletion" EXACT [] is_a: NCIT:C19296 ! Deletion Mutation relationship: SCDO:1000015 SCDO:0000251 ! modifies Clinical Phenotype of Beta Thalassemia relationship: SCDO:1000015 SCDO:0000895 ! modifies Phenotype of Sickle Cell Disease property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Clair Ingram)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000303 "Still need to add one sub-class:\nthe complete deletion of the HBA1 and HBA2 genes on one chromosome 16, combined with a defect (deletional or nondeletional) in either the HBA1 or HBA2 gene on the other chromosome 16, leaving one functioning gene present (https://www.snpedia.com/index.php/Alpha_Thalassemia)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001387 name: Homozygous Deletion of HBA1 and HBA2 def: "Deletion of all four alpha-globin genes resulting in the most severe form of alpha thalassemia, Hemoglobin Barts Hydrops Fetalis." [] is_a: SCDO:0001386 ! Alpha-Globin Locus Deletion relationship: RO:0003303 SCDO:0000518 ! causes condition Hemoglobin Barts Hydrops Fetalis property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Clair Ingram)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001388 name: Insertion def: "Mutagenesis where the mutation is caused by the introduction of foreign DNA sequences into a gene or extragenic sequence. This may occur spontaneously in vivo or be experimentally induced in vivo or in vitro. Proviral DNA insertions into or adjacent to a cellular proto-oncogene can interrupt genetic translation of the coding sequences or interfere with recognition of regulatory elements and cause unregulated expression of the proto-oncogene resulting in tumor formation." [] synonym: "Gene Insertion" EXACT [] synonym: "Insertion Mutation" EXACT [] xref: MESH:D016254 is_a: IDOMAL:50000026 ! Mutation property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D016254 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001388 xsd:string [Term] id: SCDO:0001436 name: Oxygen Therapy def: "The administration of oxygen to an individual. It is of paramount importance in the peri-operative care of SCD patients as hypoxaemia predisposes to sickling." [] synonym: "Supplemental Oxygen Therapy" EXACT [] is_a: SCDO:0001133 ! Symptomatic Therapeutics relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care property_value: SCDO:0000340 NCIT:C94624 property_value: SCDO:0000340 SCDO:1000145 property_value: SCDO:1000288 "Few but definitions not specific enough" xsd:string [Term] id: SCDO:0001511 name: Renal Medullary Carcinoma def: "Renal medullary carcinoma is a rare, aggressive subtype of renal cell carcinoma characterized by a large, white or tan, firm, infiltrative tumor with microabscess-like foci centered in the renal medulla, typically presenting with hematuria, abdominal/flank pain, weight loss and fever. It is associated with sickle cell trait and disease and metastasis to the bones and lungs is common at time of diagnosis." [] synonym: "Kidney Medullary Carcinoma" EXACT [] synonym: "Renal Medullary Cancer" EXACT [] synonym: "RMC" EXACT [] xref: ORPHA:319319 is_a: HP:0000077 ! Abnormality of the Kidney is_a: SCDO:0001054 ! Sickle Cell Related Cancer relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: http://purl.org/dc/elements/1.1/source "Shetty A, Matrana MR. Renal medullary carcinoma: a case report and brief review of the literature. Ochsner J. 2014;14(2):270-5." xsd:string property_value: SCDO:0000340 http://www.orpha.net/ORDO/Orphanet_319319 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001511 xsd:string [Term] id: SCDO:0001551 name: Ethnolinguistics def: "A part of anthropological linguistics concerned with the interrelation between a language and the cultural behavior of those who speak it." [] xref: APAONTO:Ethnolinguistics is_a: NCIT:C16495 ! Demographic Factor property_value: http://purl.org/dc/elements/1.1/source https://en.wikipedia.org/wiki/Ethnolinguistics property_value: SCDO:0000340 "details" property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001551 xsd:string [Term] id: SCDO:0001604 name: Steady State def: "That period when the patient with sickle cell anaemia is free of infection, pain, or other disease processes." [] synonym: "SCD Steady State" EXACT [] is_a: SCDO:0000895 ! Phenotype of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000303 "Request inclusion into relevant ontology." xsd:string property_value: SCDO:0000340 "Juwah, A. I., Nlemadim, E. U., & Kaine, W. (2004). Types of anaemic crises in paediatric patients with sickle cell anaemia seen in Enugu, Nigeria. Archives of disease in childhood, 89(6), 572-576." xsd:string property_value: SCDO:1000288 "Not relevant to context of sickle cell" xsd:string [Term] id: SCDO:0001611 name: deprecated-Renal Insufficiency def: "A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism." [] is_a: SCDO:0001336 ! from phenotype is_obsolete: true replaced_by: SCDO:0000674 [Term] id: SCDO:0001624 name: Non-Anemic def: "Not anemic, i.e. no reduction in erythrocytes volume and/or hemoglobin concentration." [] synonym: "Nonanemic" EXACT [] is_a: NCIT:C3833 ! Asymptomatic property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001626 name: Nonsense Codon def: "An amino acid-specifying codon that has been converted to a stop codon by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon." [] xref: MESH:D018389 is_a: SCDO:0004623 ! Codon property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D018389 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001626 xsd:string [Term] id: SCDO:0001715 name: deprecated-Neuropathic Pain def: "Chronic pain caused by damage to nerve fibers. It is usually associated with tissue injury. This pain is usually described as burning, numb, tingling, lancinating, shooting, or paroxysmal in nature and is associated with a sensation of pins and needles. Its severity is also enhanced by exposure to either cold or heat." [] is_a: SCDO:0001336 ! from phenotype property_value: SCDO:0000303 "This term already exists in the ontology as 'Chronic Neuropathic Pain' (SCDO:0000228), however when searching other ontologies, the term 'chronic' is included in the definition. I have therefore edited the definition to include the term 'chronic'. Please review as to whether we need to change the label that currently exists in SCDO. Is treated with: amitriptyline, duloxetine, gabapentin, or pregabalin." xsd:string is_obsolete: true replaced_by: SCDO:0000228 [Term] id: SCDO:0001751 name: Homozygous Deletion of HBA2 def: "Deletion of both HBA2 genes, which results in an alpha-thal-2 (alpha-/alpha-) form of alpha thalassemia trait. With this deletion there is nearly normal production of red blood cells, but there may be a mild anemia." [] synonym: "Trans Deletion of HBA2" EXACT [] is_a: SCDO:0001386 ! Alpha-Globin Locus Deletion property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 Alpha:Thalassemia property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001765 name: Beta-Minus Thalassemia Mutation def: "A mutation in the beta-globin gene, HBB, that results in reduced beta globin synthesis." [] is_a: SCDO:0009731 ! Beta Thalassemia Mutation relationship: RO:0003303 SCDO:0000110 ! causes condition Beta Minus Thalassemia relationship: SCDO:1000184 SCDO:1000159 ! contributes to genotype Hemoglobin Genotype S/Beta Minus Thalassaemia property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0001851 name: Tachycardia def: "A rapid heartrate that exceeds the range of the normal resting heartrate for age, gender or patient population." [] synonym: "Fast Heart Rate" EXACT [] synonym: "Heart Racing" EXACT [] synonym: "Racing Heart" EXACT [] xref: HP:0001649 is_a: HP:0011025 ! Abnormal Cardiovascular System Physiology relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada property_value: SCDO:0000303 "Suggest update to description in HPO.\nThe original description stated 'A rapid heartrate that exceeds the range of the normal resting heartrate for age', however I think it should be recommended that gender and patient population be included." xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/HP_0001649 xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0001997 name: Crystallisation of Hemoglobin def: "The process whereby a mutation in a hemoglobin molecule causes conformational changes in the hemoglobin molecule, which cause increased hydrophobicity of the molecule, which result in the formation of crystals consisting of the mutated hemoglobin molecules. This type of crystallisation is observed in hemoglobins with the HbC mutation." [] synonym: "Crystallisation of Haemoglobin" EXACT [] synonym: "Crystallization of Haemoglobin" EXACT [] synonym: "Crystallization of Hemoglobin" EXACT [] synonym: "Haemoglobin Crystallisation" EXACT [] synonym: "Haemoglobin Crystallization" EXACT [] synonym: "Hemoglobin Crystallisation" EXACT [] synonym: "Hemoglobin Crystallization" EXACT [] is_a: SCDO:1000253 ! Abnormal Biological Process relationship: SCDO:1000210 SCDO:1000041 ! has causal or contributing genetic variation HBB, GLU6LYS property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0002039 name: Zinc Deficiency def: "A deficiency of the essential metal Zinc; an essential cofactor for many enzymes. Zinc deficiency is caused by a lack of zinc in the diet, loss of zinc after absorption, for example through loss through burns, inability to absorb Zinc, or increased loss through exercise." [] xref: EFO:1000003 is_a: SCDO:1000261 ! Avitaminosis property_value: SCDO:0000340 EFO:1000003 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0002039 xsd:string [Term] id: SCDO:0002106 name: Splenic Infarction def: "Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis." [] xref: EFO:1001190 is_a: HP:0001743 ! Abnormality of the Spleen relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://www.ebi.ac.uk/efo/EFO_1001190 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0002106 xsd:string [Term] id: SCDO:0002107 name: deprecated-Nature of Mutations def: "This represents the phenotypic feature of mutational effects on a given property of an organism biological system [Gaston K. Mazandu, []]." [] is_a: SCDO:0000359 ! deprecated terms is_obsolete: true [Term] id: SCDO:0002125 name: Confidentiality def: "The privacy of information and its protection against unauthorized disclosure." [] synonym: "Privileged Communications" EXACT [] xref: MESH:D003219 is_a: SCDO:0300005 ! Research Characteristics property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D003219 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0002125 xsd:string [Term] id: SCDO:0002130 name: Transcriptome def: "The pattern of gene expression at the level of genetic transcription in a specific organism or under specific circumstances in specific cells." [] synonym: "Gene Expression Levels" EXACT [] synonym: "Gene Expression Profile" EXACT [] synonym: "Gene Expression Profiles" EXACT [] xref: MESH:D059467 is_a: SCDO:0005722 ! Genetic Structure property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D059467 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0002130 xsd:string [Term] id: SCDO:0002240 name: Disease Severity def: "The presence and extensiveness of a disease in the body. It is objectively evaluated through diagnostic testing and physiological examination of the impaired biological organs or tissues, in cases in which disease severity can be distinguished from other realms of health, as in heart disease." [] synonym: "Severity" EXACT [] is_a: NCIT:C43646 ! Association property_value: SCDO:0000303 "Request inclusion into relevant ontology.\nThis exists in the Influenza Ontology, but their definition is not ideal." xsd:string property_value: SCDO:0000340 https://www.ncbi.nlm.nih.gov/pubmed/15152704 property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:0002243 name: Research Participant Compensation def: "Reimbursement of research participants for costs directly incurred during the research, such as travel costs and reasonable compensation for their inconvenience and time spent. Compensation can be monetary or non-monetary." [] comment: Research participants should be reasonably reimbursed for costs directly incurred during the research, such as travel costs, and compensated reasonably for their inconvenience and time spent. Compensation can be monetary or non-monetary. Compensation must not be so large as to induce potential participants to consent to participate in the research against their better judgment ("undue inducement"). A local research ethics committee must approve reimbursement and compensation for research participants. synonym: "Study Participant Compensation" EXACT [] is_a: NCIT:C19332 ! Personal Attribute property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology\n\nThe label for this term has been changed to be more specific than the original \"Compensation\"." xsd:string property_value: SCDO:0000340 "International Ethical Guidelines for Health-related Research Involving Humans, Fourth Edition. Geneva, Council for International Organizations of Medical Sciences (CIOMS); 2016." xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0002305 name: Hemoglobin D Disease Causal Mutation def: "A mutation wholly or partly responsible for causing Hemoglobin D Disease." [] is_a: IDOMAL:50000026 ! Mutation property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0002337 name: Ethical Conduct def: "The abiding by applicable principles such as 1. compliance by research institutions; 2. obtaining and documenting informed consent; 3. Research Ethics Committee membership function, operations, review of research, and record keeping; 4. additional protection for certain vulnerable research subjects - pregnant women, prisoners, and children" [] is_a: SCDO:1000430 ! Ethics Related Concept property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "National Commission for the Protection of Human Subjects of Biomedical and Behavioral Research. The Belmont Report: Ethical Principles and Guidelines for the Protection of Human Subjects of Research. [Bethesda, Md.]" xsd:string property_value: SCDO:0000340 "Research ethics committees: Basic concepts for capacity building. International Ethical Guidelines for Health-related Research Involving Humans, Fourth Edition. Geneva. Council for International Organizations of Medical Sciences (CIOMS); 2016." xsd:string property_value: SCDO:0000340 "The Commission, 1978. World Health Organization. Geneva: WHO Document Production Services; 2009." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0002475 name: Beta-Zero Thalassemia Mutation def: "A mutation in the beta-globin gene, HBB, that results in absent beta globin synthesis." [] synonym: "Beta Null Mutation" EXACT [] is_a: SCDO:0009731 ! Beta Thalassemia Mutation relationship: RO:0003303 SCDO:0000115 ! causes condition Beta Zero Thalassemia relationship: SCDO:1000184 SCDO:1000067 ! contributes to genotype Hemoglobin Genotype S/Beta Zero Thalassaemia property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0002674 name: Abnormality of Metabolism/Homeostasis def: "An abnormality of the body's metabolism or homeostasis." [] synonym: "Homeostasis Abnormality" EXACT [] synonym: "Metabolism Abnormality" EXACT [] xref: HP:0001939 is_a: HP:0000118 ! Abnormal Phenotype is_a: MP:0005376 ! Metabolism/Homeostasis Phenotype property_value: SCDO:0000303 "Suggest update to description in HPO. Currenlty the HPO does not have a description." xsd:string property_value: SCDO:0000340 HP:0001939 property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0002798 name: Pharmacogenomic Variants def: "Naturally occurring genetic variations associated with drug response. While these variants are not markers for genetic predisposition to disease, they influence pharmacokinetics and pharmacodynamics and often occur on genes encoding drug metabolism enzymes and transporters (e.g., angiotensin converting enzyme; cytochrome P-450 CYP2D6)." [] xref: MESH:D000071184 is_a: NCIT:C17004 ! Genetic Polymorphism property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D000071184 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0002798 xsd:string [Term] id: SCDO:0002814 name: deprecated Globin Gene def: "'The hemoglobin molecule that transports oxygen in the blood is made up of a number of components. Human hemoglobin is a tetramer: in adults it is made up of two alpha globins and two beta globins; in the fetus, of two alpha and two g globins; and in the embryo, two e and two z globins. The sequences of these five globin types are similar and the genes that code for them occur in clusters on the chromosomes. In humans, there are two main clusters of globin genes: the alpha globin cluster on chromosome 16 and the beta globin cluster on chromosome 11. [Curator team: []]'" [] is_a: SCDO:0000359 ! deprecated terms property_value: SCDO:0000340 http://www2.nau.edu/~bio372-c/class/evolution/glbgnclst.htm xsd:string is_obsolete: true replaced_by: SCDO:0000456 [Term] id: SCDO:0002829 name: Sample def: "A sample is a limited quantity of something (e.g. an individual or set of individuals from a population, or a portion of a material) to be used for testing, analysis, inspection, investigation, demonstration, or trial use." [] xref: SIO:001050 is_a: NCIT:C19332 ! Personal Attribute property_value: SCDO:0000340 SIO:001050.rdf property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0002829 xsd:string [Term] id: SCDO:0002939 name: Polymerised Hemoglobin def: "Deoxygenated malfunctioning or mutated hemoglobins which clump together and form a long polymer in a process called polymerisation." [] synonym: "Hemoglobin Polymer" EXACT [] synonym: "Polymerised Haemoglobin" EXACT [] synonym: "Polymerized Hemoglobin" EXACT [] synonym: "Sickle Hemoglobin Polymer" EXACT [] synonym: "Sickling Hemoglobin" EXACT [] is_a: SCDO:0003807 ! Abnormal Hemoglobin relationship: SCDO:1000210 SCDO:1000039 ! has causal or contributing genetic variation HBB, GLU6VAL property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Khuthala Mnika)" xsd:string property_value: SCDO:0000303 "Request inclusion in the HPO, below \"Abnormal Hemoglobin\".\n\nDescription still needs work." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0003028 name: Ethnic Status def: "A person's ethnic status, whether conserved or mixed ethnicity." [] synonym: "Tribe" EXACT [] is_a: SCDO:0001551 ! Ethnolinguistics property_value: http://purl.org/dc/elements/1.1/creator "SCDO (curators)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0003065 name: obsolete Non-SCD Structural Variants def: "Genetic variation in the structure leading to the abnomality of protein structure in non-sickle cell disease hemoglobin." [] is_a: SCDO:0000359 ! deprecated terms property_value: SCDO:0000303 "Curation completed by the SCDO curator team: Clair." xsd:string is_obsolete: true [Term] id: SCDO:0003572 name: Consent Form def: "Documents describing a medical treatment or research project, including proposed procedures, risks, and alternatives, that are to be signed by an individual, or the individual's proxy, to indicate his/her understanding of the document and a willingness to undergo the treatment or to participate in the research." [] synonym: "Consent Forms" EXACT [] xref: MESH:D032962 is_a: SCDO:0007597 ! Descriptor of Consent property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D032962 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0003572 xsd:string [Term] id: SCDO:0003675 name: Single Nucleotide Polymorphism def: "A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population." [] xref: MESH:D020641 is_a: NCIT:C17004 ! Genetic Polymorphism property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D020641 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0003675 xsd:string [Term] id: SCDO:0003696 name: Peripheral Blood Film def: "A procedure in which a sample of peripheral blood is viewed under a microscope to count different circulating blood cells (red blood cells, white blood cells, platelets, etc.) and see whether the cells look normal." [] synonym: "Peripheral Blood Film Examination" EXACT [] synonym: "Peripheral Blood Smear" EXACT [] is_a: NCIT:C79903 ! Blood Smear property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 https://www.cancer.gov/publications/dictionaries/cancer-terms/def/peripheral-blood-smear property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0003712 name: Proxy Consent def: "A legal representation or family member of the participant gives consent on behalf of the patient." [] synonym: "Third-Party Consent" EXACT [] is_a: NCIT:C25460 ! Consent property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Victoria Nembaware)" xsd:string property_value: SCDO:0000303 "Request inclusion into the Informed Consent Ontology.\nMESH has the term Third-party consent, but the description's not suitable." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0003736 name: Dynamic Consent def: "Dynamic consent is a personalised, communication interface to enable greater participant engagement in clinical and research activities.The interface facilitates two-way communication to stimulate a more engaged, informed and scientifically literate participant population where individuals can tailor and manage their own consent preferences. It has the potential to be applied more broadly to situations where there are multiple and varied uses of data requiring different kinds of consent over a period of time." [] is_a: SCDO:0007087 ! Informed Consent property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into ICO below \"Informed Consent\"." xsd:string property_value: SCDO:0000340 https://www.nature.com/articles/ejhg201471 xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0003742 name: Splenectomy def: "Surgical procedure involving either partial or entire removal of the spleen." [] synonym: "Splenectomies" EXACT [] xref: MESH:D013156 is_a: SCDO:0001133 ! Symptomatic Therapeutics property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D013156 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0003742 xsd:string [Term] id: SCDO:0003807 name: Abnormal Hemoglobin def: "Hemoglobin characterized by structural alterations within the molecule that confer an inherited health condition phenotype. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains." [] synonym: "Abnormal Hemoglobin Variant" EXACT [] synonym: "Abnormal Hemoglobins" EXACT [] synonym: "Abnormal Variant of Hemoglobin" EXACT [] is_a: HP:0001877 ! Abnormal Erythrocyte Morphology is_a: SCDO:0006921 ! Hemoglobin Variant property_value: http://purl.org/dc/elements/1.1/source HP:0011902 property_value: SCDO:0000303 "Suggest HPO to update their term description and to move terms related to hemoglobin concentration below \"Abnormal Hemoglobin Concentration\".\n\nInclude as a sub-class \"Hemoglobin S-Providence\"?" xsd:string property_value: SCDO:0000340 http://www.reference.md/files/D006/mD006455.html property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0003894 name: Gap PCR def: "The polymerase chain reaction (PCR) is the most common method to detect the deletional thalassaemias. Gap-PCR amplifies the deleted DNA sequence using the primers flanking the deleted region 10. Three primers are designed for each deletion to amplify the normal (undeleted) and deleted gene sequences." [] is_a: SCDO:0000913 ! Polymerase Chain Reaction property_value: SCDO:0000303 "Request inclusion into relevant ontology." xsd:string property_value: SCDO:0000340 "Kho SL, Chua KH, George E, Tan JA. A novel gap-PCR with high resolution melting analysis for the detection of α-thalassaemia Southeast Asian and Filipino β°-thalassaemia deletion. Sci Rep. 2015;5:13937. Published 2015 Sep 14. doi:10.1038/srep13937" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0004061 name: Genotype def: "The genetic constitution of the individual, comprising the alleles present at each genetic locus." [] xref: MESH:D005838 is_a: SCDO:0000765 ! Genetic Phenomena property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D005838 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0004061 xsd:string [Term] id: SCDO:0004078 name: Girdle Syndrome def: "Characterized by an established ileus, with vomiting, a silent distended abdomen and distended bowel loops and fluid levels on abdominal x-ray. Some hepatic enlargement is common, and it is often associated with bilateral basal lung consolidation (chest syndrome)." [] synonym: "Mesenteric Syndrome" EXACT [] is_a: HP:0000118 ! Abnormal Phenotype relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology\n\nCan be treated with analgesia, IV fluids, and antibiotics if patient is febrile." xsd:string property_value: SCDO:0000340 http://www.sickle-thal.nwlh.nhs.uk/Documents/Sickle_Cell_Disease_Paediatric_Guideline_ICHT_v1.0_Oct%202015.pdf property_value: SCDO:0000340 "SCD Management guidelines - Tanzania" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0004139 name: Adult Hemoglobin def: "The most common and normal adult human hemoglobin tetramer, comprising over 97% of the total red blood cell hemoglobin and consisting of two alpha chains and two beta chains." [] synonym: "Adult Haemoglobin" EXACT [] synonym: "alpha2beta2" EXACT [] synonym: "Haemoglobin A" EXACT [] synonym: "Haemoglobin A1" EXACT [] synonym: "Hb A" EXACT [] synonym: "HbA" EXACT [] synonym: "Hemoglobin A" EXACT [] synonym: "Hemoglobin A1" EXACT [] xref: MESH:D006441 is_a: SCDO:0006835 ! Normal Hemoglobin property_value: SCDO:0000303 "Request inclusion into NCIT below \"Hemoglobin\"/\"Normal Hemoglobin\".\nSuggest update to description in MESH." xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D006441 property_value: SCDO:1000288 "Few but definitions not specific enough" xsd:string [Term] id: SCDO:0004187 name: Hemolytic Crisis def: "May be caused by an acute VOC, malarial infection or oxidant drug exposure in individuals with concomitant glucose-6-phosphate dehydrogenase (G6PD) deficiency. Haemolytic crisis may be distinguished from aplastic crisis by the finding of a reticulocytosis as opposed to a reticulocytopenia." [] is_a: HP:0001871 ! Abnormality of Blood and Blood-Forming Tissues relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "SCD Management guidelines - South Africa" xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0004277 name: Assent def: "A term used to express willingness to participate in research by persons who are by definition too young to give informed consent but who are old enough to understand the proposed research in general, its expected risks and possible benefits, and the activities expected of them as subjects." [] xref: ICO:0000143 is_a: SCDO:0007597 ! Descriptor of Consent property_value: SCDO:0000303 "The source term seems to be deprecated in the ICO." xsd:string property_value: SCDO:0000340 ICO:0000143 property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0004444 name: Delta Beta Globin Fusion Chain def: "The protein product of the fusion of the gene products of the HBD and HBB genes that causes the mutation which causes the Hemoglobin Lepore Trait." [] synonym: "Crossover between delta and beta globin gene loci" EXACT [] synonym: "Delta Beta Globin Chain Fusion Product" EXACT [] is_a: SCDO:1000012 ! Beta-Globin Family Members property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 https://en.wikipedia.org/wiki/Hemoglobin_Lepore_syndrome property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0004576 name: Chronic Hypersplenism def: "Chronic splenic sequestration associated with enlarged spleen and cytopaenia with anaemia and reduction in white blood cells and platelets. The anaemia is usually chronic in nature and patients rarely present with signs of heart failure." [] is_a: SCDO:0001334 ! Chronic Phenotype is_a: SCDO:0006905 ! Hypersplenism relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into the HPO below \"Hypersplenism\"." xsd:string property_value: SCDO:0000340 "Management of Sickle Cell Disease - The United Republic of Tanzania (By Ministry of Health)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0004598 name: Anticodon def: "The sequential set of three nucleotides in transfer RNA that interacts with its complement in messenger RNA, the Codon, during translation in the ribosome." [] xref: MESH:D000926 is_a: SCDO:0005593 ! Genetic Code property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D000926 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0004598 xsd:string [Term] id: SCDO:0004623 name: Codon def: "Also known as sense codon, a set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (terminator codon). Most codons are universal, but some organisms do not produce the transfer RNAs complementary to all codons. These codons are referred to as unassigned codons (nonsense codons)." [] xref: MESH:D003062 is_a: SCDO:0005593 ! Genetic Code property_value: SCDO:0000303 "Add \"Terminator Codon\" as a parent of \"Nonsense Codon\" as in MESH?" xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D003062 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0004623 xsd:string [Term] id: SCDO:0004716 name: Initiator Codon def: "A codon that directs initiation of protein translation (Translation, Genetic) by stimulating the binding of initiator tRNA (RNA, TRANSFER, MET). In prokaryotes, the codons AUG or GUG can act as initiators while in eukaryotes, AUG is the only initiator codon." [] synonym: "Codon, Initiation" EXACT [] synonym: "Codon, Initiator" EXACT [] synonym: "Initiation Codon" EXACT [] synonym: "Initiation Codons" EXACT [] synonym: "Initiator Codons" EXACT [] synonym: "Start Codon" EXACT [] synonym: "Start Codons" EXACT [] xref: MESH:D018387 is_a: SCDO:0004623 ! Codon property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D018387 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0004716 xsd:string [Term] id: SCDO:0004829 name: Transient Ischemic Attack def: "Brief reversible episodes of focal, nonconvulsive ischemic dysfunction of the brain having a duration of less than 24 hours, and usually less than one hour, caused by transient thrombotic or embolic blood vessel occlusion or stenosis. Events may be classified by arterial distribution, temporal pattern, or etiology (e.g., embolic vs. thrombotic)." [] synonym: "Mini Stroke" EXACT [] synonym: "TIA" EXACT [] synonym: "Transient Ischemic Attacks" EXACT [] xref: EFO:0003764 is_a: HP:0030680 ! Abnormal Cardiovascular System Morphology relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://www.ebi.ac.uk/efo/EFO_0003764 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0004829 xsd:string [Term] id: SCDO:0004836 name: Angina def: "A chest pain that is caused when your heart muscle doesn't get enough oxygen-rich blood." [] xref: OAE:0002122 is_a: HP:0011025 ! Abnormal Cardiovascular System Physiology property_value: SCDO:0000340 OAE:0002122 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0004836 xsd:string [Term] id: SCDO:0004847 name: Acute Hepatic Sequestration def: "A rarely recognized complication of vaso-occlusive crisis. It is characterized by a presentation of right upper quadrant pain in the liver. A smooth, tender, enlarged liver is noted on physical exam. The lab values show a decrease in the hemoglobin/hematocrit. An increase in reticulocyte count is also seen." [] is_a: HP:0001392 ! Abnormality of the Liver is_a: NCIT:C115224 ! Hepatic Complication relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "Norris, W. E. (2004). Acute hepatic sequestration in sickle cell disease. Journal of the National Medical Association, 96(9), 1235-1239. The Management of Sickle Cell Disease. 1984. (Revised June 2002). NIH publication 02-2117. Available at http:/www.nhlbi.nih.gov/health/prof/blood/sickle/sc." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0004860 name: deprecated-Amoxicillin def: "'A penicillin in which the substituent at position 6 of the penam ring is a 2-amino-2-(4-hydroxyphenyl)acetamido group. [Curator team: []]'" [] xref: CHEBI:2676 is_a: SCDO:1000035 ! from therapeutics property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CHEBI_2676 xsd:string is_obsolete: true replaced_by: SCDO:0002381 [Term] id: SCDO:0004888 name: Functional Hyposplenism def: "An acquired disorder caused by several hematological and immunological diseases and characterized by impairment of splenic function." [] synonym: "FH" EXACT [] is_a: HP:0001743 ! Abnormality of the Spleen relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: http://purl.org/dc/elements/1.1/source "Kirkineska L, Perifanis V, Vasiliadis T. Functional hyposplenism. Hippokratia. 2014;18(1):7–11." xsd:string property_value: http://purl.org/dc/elements/1.1/source "Vijay, V., Cavenagh, J.D. and Yate, P., 1998. The anaesthetist's role in acute sickle cell crisis. British journal of anaesthesia, 80(6), pp.820-828." xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology, perhaps below \"Abnormality of the Spleen\" in the HPO." xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0004905 name: Beta-Globin Locus Deletion def: "Deletion of a part of the beta-globin locus." [] synonym: "Beta-Globin Cluster Deletion" EXACT [] synonym: "Beta-Globin Gene Cluster Deletion" EXACT [] synonym: "Hemaglobin Beta Gene Deletion" EXACT [] is_a: NCIT:C19296 ! Deletion Mutation property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: http://purl.org/dc/elements/1.1/source http://www.bloodjournal.org/content/126/23/3374?sso-checked=true property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "0538" property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0005167 name: Chronic Anemia def: "Long lasting form of anemia." [] is_a: HP:0001903 ! Anemia is_a: SCDO:0001334 ! Chronic Phenotype relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology\n\nNo online description for this term exists, would it be sufficient to say 'Long lasting form of anemia'? or is there a better definition specific for sickle cell anemia?" xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0005191 name: Hyperhemolysis def: "An increase in the rate of hemolysis, in conjunction with specific clinical complications of sickle cell disease." [] is_a: HP:0001392 ! Abnormality of the Liver is_a: MP:0010163 ! Hemolysis is_a: NCIT:C115224 ! Hepatic Complication is_a: SCDO:0000895 ! Phenotype of Sickle Cell Disease property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into Mammalian Phenotype ontology below \"Hemolysis\".\n\nInfo also provided by the definition source: 'Hyperhemolysis should be typified by an acute reduction in hemoglobin level associated with higher than usual reticulocyte counts and perhaps an unaccountable and sudden increase in LDH.'" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management. Martin H. Steinberg, Bernard G. Forget, Douglas R. Higgs, David J. Weatherall. Cambridge University Press, 17 Aug 2009" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0005243 name: Comparative Genomic Hybridisation def: "A method for comparing two sets of chromosomal DNA by analyzing differences in the copy number and location of specific sequences. It is used to look for large sequence changes such as deletions, duplications, amplifications, or translocations." [] synonym: "CGH" EXACT [] synonym: "Comparative Genome Hybridization" EXACT [] synonym: "Comparative Genomic Analysis" EXACT [] synonym: "Comparative Genomic Hybridizations" EXACT [] xref: MESH:D055028 is_a: SCDO:0000448 ! Genetic Technique property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D055028 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0005243 xsd:string [Term] id: SCDO:0005279 name: deprecated High Reticulocyte Count def: "An abnormally high number of reticulocytes per unit volume of blood. The normal fraction of reticulocytes in the blood depends on the clinical situation but is usually 0.5% to 2.5% in adults and 2% to 6% in infants." [] synonym: "Reticulocyte Count High" EXACT [] is_a: SCDO:0000359 ! deprecated terms property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology\n\nSymptom of splenic sequestration, or increased haemolysis." xsd:string property_value: SCDO:0000340 https://en.wikipedia.org/wiki/Reticulocyte property_value: SCDO:1000288 "Negligable" xsd:string is_obsolete: true replaced_by: SCDO:0001272 [Term] id: SCDO:0005339 name: Globin Phenotype def: "The physical characteristics of the globin polypeptides that form hemoglobins." [] synonym: "Globin Chain Phenotype" EXACT [] is_a: SCDO:0009613 ! Protein Phenotype property_value: SCDO:0000303 "Request inclusion into relevant ontology." xsd:string property_value: SCDO:0000340 https://www.ncbi.nlm.nih.gov/pubmed/20339107 xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0005379 name: Database def: "Work consisting of a structured file of information or a set of logically related data stored and retrieved using computer-based means." [] synonym: "Data Base" EXACT [] xref: MESH:D019991 is_a: SCDO:0300003 ! Publication Formats property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D019991 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0005379 xsd:string [Term] id: SCDO:0005446 name: Fetal Hemoglobin def: "The major component of hemoglobin in the fetus. This hemoglobin has two alpha and two gamma polypeptide subunits in comparison to normal adult hemoglobin, which has two alpha and two beta polypeptide subunits. Fetal hemoglobin concentrations can be elevated (usually above 0.5%) in children and adults affected by leukemia and several types of anemia." [] synonym: "Fetal Haemoglobin" EXACT [] synonym: "Foetal Haemoglobin" EXACT [] synonym: "Haemoglobin F" EXACT [] synonym: "Hb F" EXACT [] synonym: "HbF" EXACT [] synonym: "Hemoglobin F" EXACT [] xref: MESH:D005319 is_a: SCDO:0006835 ! Normal Hemoglobin property_value: SCDO:0000303 "Request inclusion into NCIT below \"Hemoglobin\"/\"Normal Hemoglobin\", for completion sake." xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D005319 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0005446 xsd:string [Term] id: SCDO:0005464 name: Myocardial Ischemia def: "A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (coronary artery disease), to obstruction by a thrombus (coronary thrombosis), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (myocardial infarction)." [] xref: EFO:1001375 is_a: SCDO:0000665 ! Ischemia relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada property_value: SCDO:0000340 http://www.ebi.ac.uk/efo/EFO_1001375 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0005464 xsd:string [Term] id: SCDO:0005580 name: deprecated-Avascular Necrosis of the Femoral Head def: "Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty." [] synonym: "ANFH" EXACT [] xref: Orphanet:86820 is_a: NCIT:C118385 ! deprecated-Avascular Necrosis property_value: SCDO:0000340 http://www.orpha.net/ORDO/Orphanet_86820 xsd:string is_obsolete: true replaced_by: SCDO:0000842 [Term] id: SCDO:0005593 name: Genetic Code def: "The meaning ascribed to the base sequence with respect to how it is translated into amino acid sequence. The start, stop, and order of amino acids of a protein is specified by consecutive triplets of nucleotides called codons." [] xref: MESH:D005815 is_a: SCDO:0005722 ! Genetic Structure property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D005815 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0005593 xsd:string [Term] id: SCDO:0005671 name: HBB and HBD Deletion def: "Deletion of the HBB and HBD genes that results in delta-beta thalassemia." [] is_a: SCDO:0004905 ! Beta-Globin Locus Deletion is_a: SCDO:1000366 ! Delta Beta Thalassemia Mutation relationship: RO:0003303 SCDO:0000343 ! causes condition Delta Beta Thalassemia property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0005722 name: Genetic Structure def: "A biological object that contains genetic information and that is involved in transmitting genetically encoded traits from one organism to another." [] synonym: "Genetic Structures" EXACT [] xref: MESH:D040342 is_a: SCDO:0000765 ! Genetic Phenomena property_value: SCDO:0000340 https://purl.bioontology.org/ontology/MESH/D040342 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0005722 xsd:string [Term] id: SCDO:0005927 name: Justice def: "An ethical principle that obligates one to treat people fairly. Distributive justice refers to allocating benefits and harms fairly; procedural justice refers to using fair processes to make decisions that affect people; formal justice refers to treating similar cases in the same way. In human subjects research, the principle of justice implies that subjects should be selected equitably." [] is_a: GSSO:003239 ! Ethical Principle property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 https://www.niehs.nih.gov/research/resources/bioethics/glossary/index.cfm#human-subjects-research xsd:string property_value: SCDO:1000288 "Few but definitions not specific enough" xsd:string [Term] id: SCDO:0006000 name: Fever def: "Elevated body temperature due to failed thermoregulation, or inflammation or immune responses." [] synonym: "Pyrexia" EXACT [] synonym: "Pyrogenic Reaction" EXACT [] xref: HP:0001945 xref: NCIT:C3038 is_a: SCDO:0002674 ! Abnormality of Metabolism/Homeostasis relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000303 "Merged the two descriptions from NCIT and HP\n\nSuggest update to description in NCIT and HP." xsd:string property_value: SCDO:0000340 HP:0001945 property_value: SCDO:0000340 NCIT:C3038 property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0006036 name: Minor def: "A person who has not attained the age at which full civil rights are accorded." [] xref: MESH:D033242 is_a: SCDO:0002125 ! Confidentiality property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D033242 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0006036 xsd:string [Term] id: SCDO:0006070 name: Mixed Ethnicity def: "An ethnic group that includes persons with significant ethnic contributions from more than one group." [] xref: ERO:0002032 is_a: SCDO:0003028 ! Ethnic Status property_value: SCDO:0000340 http://purl.obolibrary.org/obo/ERO_0002032 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0006070 xsd:string [Term] id: SCDO:0006339 name: Research def: "Critical and exhaustive investigation or experimentation, having for its aim the discovery of new facts and their correct interpretation, the revision of accepted conclusions, theories, or laws in the light of newly discovered facts, or the practical application of such new or revised conclusions, theories, or laws." [] xref: MESH:D012106 is_a: SCDO:0001000 ! SCDO property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D012106 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0006339 xsd:string [Term] id: SCDO:0006429 name: Gallbladder Empyema def: "An uncommon complication of cholecystitis and refers to a situation where the gallbladder lumen is filled and distended by purulent material (pus)." [] is_a: HP:0025031 ! Abnormality of the Digestive System property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 https://radiopaedia.org/articles/gallbladder-empyema xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0006461 name: Acutely Severe Anemia def: "Aplasia or hemolysis may be precipitated by another illness/infection in sickle cell disease patients. Acutely severe anemia is defined as Hb < 5g/dl or a recent acute drop in HB > 2g/dl below the individual's steady state value. If no steady state value is available, it can be detected by the presence of acutely symptomatic anemia (i.e. tachycardia, cardiac failure, shock)." [] is_a: HP:0001903 ! Anemia is_a: SCDO:1000000 ! Acute Phenotype relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology.\n\nPlease check with the working group as to how they feel about the label for this term." xsd:string property_value: SCDO:0000340 "SCD Management guidelines - Tanzania" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0006517 name: Human Subject Research def: "Research involving the collection, storage, or use of private data or biological samples from living individuals by means of interactions, interventions, surveys, or other research methods or procedures." [] is_a: SCDO:0300005 ! Research Characteristics property_value: SCDO:0000340 https://www.niehs.nih.gov/research/resources/bioethics/glossary/index.cfm#human-subjects-research xsd:string property_value: SCDO:1000288 "Not relevant to context of sickle cell" xsd:string [Term] id: SCDO:0006589 name: Cordocentesis def: "The collecting of fetal blood samples typically via endoscopic ultrasound guided fine needle aspiration from the umbilical vein, followed by examination of the blood to detect fetal abnormalities." [] synonym: "Fetal Blood Sampling" EXACT [] synonym: "Percutaneous Umbilical Cord Blood Sampling" EXACT [] synonym: "PUBS" EXACT [] synonym: "Umbilical Vein Sampling" EXACT [] xref: MESH:D017218 is_a: SCDO:0000505 ! Hematology Screening Test is_a: SCDO:0000919 ! Prenatal Screening for Sickle Cell property_value: SCDO:0000303 "Suggest update to description in MESH." xsd:string property_value: SCDO:0000340 http://americanpregnancy.org/prenatal-testing/cordocentesis/ property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D017218 property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0006613 name: Material Transfer Agreement def: "A material transfer agreement (MTA) is a type of legally enforceable contract employed by research institutions and companies to set the terms under which their materials and associated data may be obtained and used by others." [] synonym: "MTA" EXACT [] is_a: SCDO:0300006 ! Information Disclosure property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "Henderson J (2007) Counterpoint: MTAs are a practical necessity. Nat Biotechnol 25: 722–724." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0006706 name: Bioethics def: "A branch of applied ethics that studies the value implications of practices and developments in life sciences, medicine, and health care." [] synonym: "Biomedical Ethics" EXACT [] synonym: "Health Care Ethics" EXACT [] xref: MESH:D001675 is_a: NCIT:C39796 ! Ethics property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D001675 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0006706 xsd:string [Term] id: SCDO:0006832 name: Ascorbic Acid Deficiency def: "A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into SCURVY in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177)" [] synonym: "Ascorbic Acid Deficiencies" EXACT [] synonym: "Vitamin C Deficiencies" EXACT [] synonym: "Vitamin C Deficiency" EXACT [] xref: MESH:D001206 is_a: SCDO:1000261 ! Avitaminosis property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D001206 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0006832 xsd:string [Term] id: SCDO:0006833 name: Moyamoya Disease def: "A rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes." [] synonym: "MMD" EXACT [] xref: ORPHA:2573 is_a: SCDO:0000267 ! Comorbid Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://www.orpha.net/ORDO/Orphanet_2573 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0006833 xsd:string [Term] id: SCDO:0006835 name: Normal Hemoglobin def: "Hemoglobin that presents no inherited health condition phenotype." [] synonym: "Hemoglobin Normal" EXACT [] synonym: "Hemoglobin Normal Variant" EXACT [] is_a: NCIT:C16676 ! Hemoglobin is_a: SCDO:0009613 ! Protein Phenotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into NCIT below \"Hemoglobin\"." xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0006847 name: Aplastic Crisis def: "An acute form of acquired red cell aplasia. A significant change in blood picture is observed, characterised by a precipitous fall in the haemoglobin level (>20 g/l beyond steady state level) and reduced (<1%) or absent reticulocytes in the peripheral blood. The total white blood cell or platelet counts may or may not be affected. In addition, there is no significant increase in the unconjugated fraction of serum bilirubin.The most common cause is infection by parvovirus B19, a DNA virus that replicates inside immature red blood cells in the bone marrow, resulting in severe anaemia (hemoglobin levels well below steady state) and low reticulocyte count. It is rarely recurrent." [] synonym: "Aplastic Crises" EXACT [] is_a: SCDO:1000000 ! Acute Phenotype relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "Juwah, A. I., Nlemadim, E. U., & Kaine, W. (2004). Types of anaemic crises in paediatric patients with sickle cell anaemia seen in Enugu, Nigeria. Archives of disease in childhood, 89(6), 572-576." xsd:string property_value: SCDO:0000340 "SCD Management guidelines - Jamaica" xsd:string property_value: SCDO:0000340 "SCD Management guidelines - Nigeria" xsd:string property_value: SCDO:0000340 "SCD Management guidelines - South Africa" xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0006860 name: HBG1 and/or HBG2 Mutations def: "Mutations in the HBG1 and/or HBG2 genes. Such mutations can lead to variably increased levels of fetal hemoglobin (Hb) (Hb F, alpha2gamma2) in the syndrome of hereditary persistence of fetal Hb (HPFH)." [] is_a: IDOMAL:50000026 ! Mutation relationship: SCDO:1000184 SCDO:1000235 ! contributes to genotype Hereditary Persistence of Fetal Hemoglobin Genotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.ncbi.nlm.nih.gov/pubmed/24144231 property_value: SCDO:0000303 "Request inclusion into relevant ontology.\n\nPerhaps add sub-classes of specific mutations as in the dc:source." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0006905 name: Hypersplenism def: "Condition characterized by splenomegaly, some reduction in the number of circulating blood cells in the presence of a normal or hyperactive bone marrow, and the potential for reversal by splenectomy." [] synonym: "Hypersplenia" EXACT [] xref: EFO:1000975 is_a: HP:0001743 ! Abnormality of the Spleen relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: http://purl.org/dc/elements/1.1/source "Al-Salem, A. H. (2011). Splenic Complications of Sickle Cell Anemia and the Role of Splenectomy. ISRN Hematology, 2011, 864257. http://doi.org/10.5402/2011/864257" xsd:string property_value: SCDO:0000340 http://www.ebi.ac.uk/efo/EFO_1000975 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0006905 xsd:string [Term] id: SCDO:0006909 name: Hyper-Hemolytic Crisis def: "Significant change in blood picture characterised by a precipitous fall in the haemoglobin level associated with jaundice, marked reticulocytosis, and polychromasia on the blood smear, increased unconju- gated hyperbilirubinaemia, and increased urobilinogen content in urine above the steady state level for each individual patient." [] is_a: SCDO:0004187 ! Hemolytic Crisis relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "Juwah, A. I., Nlemadim, E. U., & Kaine, W. (2004). Types of anaemic crises in paediatric patients with sickle cell anaemia seen in Enugu, Nigeria. Archives of disease in childhood, 89(6), 572-576." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0006911 name: Conserved Ethnicity def: "An ethnic group that includes persons with ethnic contributions from only one ethnic group." [] is_a: SCDO:0003028 ! Ethnic Status property_value: http://purl.org/dc/elements/1.1/creator "SCDO (curators)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0006921 name: Hemoglobin Variant def: "Hemoglobin with altered structural and biochemical properties." [] is_a: NCIT:C16676 ! Hemoglobin is_a: SCDO:0009613 ! Protein Phenotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Clair Ingram)" xsd:string property_value: SCDO:0000303 "Request inclusion into NCIT below \"Hemoglobin\"." xsd:string property_value: SCDO:0000340 https://www.ncbi.nlm.nih.gov/pubmed/23388674 xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0007087 name: Informed Consent def: "Voluntary authorization, by a patient or research subject, with full comprehension of the risks involved, for diagnostic or investigative procedures, and for medical and surgical treatment." [] xref: MESH:D007258 is_a: NCIT:C25460 ! Consent property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D007258 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0007087 xsd:string [Term] id: SCDO:0007161 name: Acute Splenic Sequestration Crisis def: "Significant change in blood picture characterised by a precipitous fall in the haemoglobin level of at least 20 g/l and accompanied by a rapidly enlarging spleen or liver (greater than 2 cm from the steady state level) and reticulocytosis above the steady state level for each individual patient. Signs of acute circulatory insufficiency such tachypnoea, tachycardia, and hypotension may or may not be present. It is the earliest life-threatening complication seen in patients with SCD besides pneumococcal infections." [] synonym: "Acute Crisis Splenic Sequestration" EXACT [] is_a: SCDO:0000895 ! Phenotype of Sickle Cell Disease is_a: SCDO:1000000 ! Acute Phenotype relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "Vijay, V., Cavenagh, J.D. and Yate, P., 1998. The anaesthetist's role in acute sickle cell crisis. British journal of anaesthesia, 80(6), pp.820-828." xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0007192 name: Quantitative Hemoglobinopathy def: "A hemoglobinopathy caused by a reduced or imbalanced synthesis of a normal globin chain or by a defect in the switch between synthesis of different types of normal hemoglobin." [] synonym: "Abnormal Hemoglobin Synthesis" EXACT [] synonym: "Abnormal Synthesis Hemoglobinopathy" EXACT [] synonym: "Synthesis Hemoglobinopathy" EXACT [] is_a: SCDO:0000552 ! Hemoglobinopathy property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.diagnostics.eu.tosohbioscience.com/solutions/pathologies/haemoglobinopathies property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0007212 name: obsolete Other Molecules def: "'Other molecules are complexes which do not contain protein or RNA, including lipids, carbohydrates, etc.'" [] is_a: SCDO:0000359 ! deprecated terms is_obsolete: true [Term] id: SCDO:0007281 name: Adrenal Insufficiency def: "Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves." [] synonym: "Hypoadrenalism" EXACT [] xref: HP:0000846 is_a: HP:0000834 ! Abnormality of the Adrenal Glands property_value: SCDO:0000303 "Suggest update to description. Not sure if they changed their description or if we adapted it." xsd:string property_value: SCDO:0000340 HP:0000846 property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0007495 name: Risk def: "The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome." [] xref: MESH:D012306 is_a: SCDO:0006339 ! Research property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D012306 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0007495 xsd:string [Term] id: SCDO:0007519 name: Community Engagement def: "A process of inclusive participation that supports mutual respect of values, strategies, and actions for authentic partnership of people affiliated by geographic location, shared interest, or similar circumstances to address issues affecting community wellbeing." [] is_a: SCDO:0300005 ! Research Characteristics property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "Holzer et al 2014 Doi:10.1097/JIM.0000000000000097" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:0007565 name: deprecated Major Area def: "Distinct geographical area." [] is_a: SCDO:0000359 ! deprecated terms property_value: SCDO:0000303 "This term was too general. Was replaced by \"Geographic Area\"." xsd:string is_obsolete: true replaced_by: SCDO:1000367 [Term] id: SCDO:0007597 name: Descriptor of Consent def: "Information or a description of consent (hypothetical or obtained) or any aspect involved in or captured in the consent process." [] is_a: SCDO:0006339 ! Research property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology, perhaps the ICO." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0007618 name: deprecated-Avascular necrosis of the humeral head def: "In situ death of bone within the humeral head due to disruption of blood supply." [] is_a: NCIT:C118385 ! deprecated-Avascular Necrosis property_value: SCDO:0000303 "Has synonym: Osteonecrosis of the humeral head" xsd:string property_value: SCDO:0000340 http://www.wheelessonline.com/ortho/Humeral_Head_Osteonecrosis xsd:string is_obsolete: true replaced_by: SCDO:1000376 [Term] id: SCDO:0007623 name: Molecular Phenotype def: "The molecular characteristics of a cell of tissue including expressed coding and non-coding RNAs, proteins and their post-translational modifications, lipids, carbohydrates and small molecules that characterize the state in a cell or tissue and that result from the interaction of its genotype and the environment." [] xref: BAO:0170001 is_a: OGMS:0000023 ! Phenotype property_value: SCDO:0000340 BAO?p=classes&conceptid=http%3A%2F%2Fwww.bioassayontology.org%2Fbao%23BAO:0170001 property_value: SCDO:0000340 http://www.bioassayontology.org/bao#BAO_0170001 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0007623 xsd:string [Term] id: SCDO:0007624 name: Beta Thalassemia Genotype def: "HBB genetic variants that result in reduced or absent hemoglobin subunit beta production." [] is_a: SCDO:0004061 ! Genotype relationship: RO:0003303 SCDO:0000111 ! causes condition Beta Thalassemia relationship: SCDO:1000184 SCDO:1000107 ! contributes to genotype Hemoglobin Genotype S/Beta Thalassemia relationship: SCDO:1000222 SCDO:1000240 ! causes molecular phenotype Reduced or Absent Hemoglobin A property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "PMID: 20301599" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0007656 name: Sickle Cell Thalassemia def: "Hemolytic anemia, in which patients are compound or double heterozygous for both the sickle cell gene and a thalassemia gene." [] synonym: "Sickle Cell-Thalassemia" EXACT [] xref: NCIT:C61237 is_a: SCDO:1000163 ! Compound Heterozygous Sickle Cell Disease is_a: SCDO:1000215 ! Structural and Quantitative Hemoglobinopathy relationship: SCDO:0000663 NCIT:C15709 ! diagnosed using tool Genetic Testing relationship: SCDO:0000663 NCIT:C79903 ! diagnosed using tool Blood Smear relationship: SCDO:0000663 SCDO:0000547 ! diagnosed using tool Hemoglobin Profile Assay relationship: SCDO:1000210 SCDO:0009731 ! has causal or contributing genetic variation Beta Thalassemia Mutation relationship: SCDO:1000210 SCDO:1000039 ! has causal or contributing genetic variation HBB, GLU6VAL relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives property_value: SCDO:0000303 "Suggest update to description in NCIT" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C61237 property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0007897 name: Ethics Approval def: "A document containing the determination of the Research Ethics Committee (REC) that the clinical study with human subject participation has been reviewed and may be conducted at a particular study site within the constraints set forth by the REC and other institutional and federal requirements. The regulations require that an REC conduct continuing review of research at intervals appropriate to the degree of risk, but not less than once a year." [] is_a: SCDO:0300005 ! Research Characteristics is_a: SCDO:1000430 ! Ethics Related Concept property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0007900 name: Embryonic Hemoglobin def: "Hemoglobin produced in the blood islands in the embryonic yolk sac during the mesoblastic stage of gestation. There are four different embryonic hemoglobins, Hemoglobin Gower 1, Hemoglobin Gower 2, Hemoglobin Portland 1 and Hemoglobin Portland 2." [] synonym: "Hemoglobin Epsilon" EXACT [] is_a: SCDO:0006835 ! Normal Hemoglobin property_value: SCDO:0000303 "Request inclusion into NCIT below \"Hemoglobin\"/\"Normal Hemoglobin\".\n\nAdd sub-classes:\nHemoglobin Gower 1\nHemoglobin Gower 2\nHemoglobin Portland 1\nHemoglobin Portland 2" xsd:string property_value: SCDO:0000340 Embryonic:hemoglobin property_value: SCDO:0000340 "R Al-Mufti, H Hambley, F Farzaneh, KH Nicolaides\nHaematologica Jan 2000, 85 (7) 690-693;" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0008037 name: Acute Symptomatic Seizure def: "A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed. It is often associated with infections, infarctions, and severe metabolic or sickle cell complications." [] synonym: "Provoked Seizures" EXACT [] synonym: "Situation-Related Seizures" EXACT [] xref: HP:0011145 is_a: SCDO:1000000 ! Acute Phenotype relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: SCDO:0000303 "Suggest update to description in HPO." xsd:string property_value: SCDO:0000340 HP:0011145 property_value: SCDO:0000340 "SCD Management guidelines - Jamaica" xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0008251 name: Homozygous Deletion of HBA1 def: "Deletion of both HBA1 genes, which results in an alpha-thal-2 (alpha-/alpha-) form of alpha thalassemia trait. With this deletion there is nearly normal production of red blood cells, but there may be a mild anemia." [] synonym: "Trans Deletion of HBA1" EXACT [] is_a: SCDO:0001386 ! Alpha-Globin Locus Deletion property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 Alpha:Thalassemia property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0008262 name: Structural Hemoglobinopathy def: "A hemoglobinopathy caused by the presence of structurally abnormal hemoglobins." [] synonym: "Qualitative Hemoglobinopathy" EXACT [] is_a: SCDO:0000552 ! Hemoglobinopathy property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0008595 name: Chronic Arthritis def: "Persistence of an inflammatory event in the articulation overtime." [] is_a: HP:0001369 ! Arthritis is_a: SCDO:0001334 ! Chronic Phenotype relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0008623 name: Vaso-Occlusion def: "The obstruction of blood vessels by altered erythrocytes that can result in pain, anemia and tissue ischemia." [] is_a: HP:0030680 ! Abnormal Cardiovascular System Morphology property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0008625 name: Right Upper Quadrant Syndrome def: "Characterized by pain and discomfort in the right upper quadrant (RUQ) of the abdomen caused by a number of possible aetiologies in sickle cell disease. Causes of RUQ pain may be divided into pain originating from the liver or gall bladder versus other origins of abdominal pain in that region." [] synonym: "Right Upper Quadrant Pain" EXACT [] synonym: "RUQ Pain" EXACT [] is_a: SCDO:0000895 ! Phenotype of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "SCD Management guidelines - Jamaica" xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0008688 name: Biobank def: "A biobank is a collections of samples of biological substances (e.g. tissue, blood, DNA) which are linked to data about the samples and their donors. They have a dual nature as collections of samples and data and usually require investigators or institutions to agree to certain conditions as a condition for sharing samples or data with them." [] xref: OMIABIS:0000000 is_a: SCDO:0300003 ! Publication Formats property_value: SCDO:0000303 "Suggest update to description in OMIABIS" xsd:string property_value: SCDO:0000340 https://www.niehs.nih.gov/research/resources/bioethics/glossary/index.cfm property_value: SCDO:0000340 OMIABIS:0000000 property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0008713 name: Sickle Cell Anemia Associated with Alpha Thalassemia def: "The concurrence of sickle cell anemia and alpha-thalassemia. This condition is thought to result in less severe hemolytic anemia due to reduced concentration of hemoglobin S and its polymerization within red blood cells." [] synonym: "Co-Inheritance of Alpha-Thalassemia and Sickle Cell Anemia" EXACT [] synonym: "Co-Inheritance of Sickle Cell Anemia and Alpha-Thalassemia" EXACT [] synonym: "Sickle Cell Anemia Associated with Coexistent Alpha Thalassemia" EXACT [] is_a: SCDO:1000106 ! Sickle Cell Disease relationship: SCDO:0000663 SCDO:0003894 ! diagnosed using tool Gap PCR relationship: SCDO:1000015 SCDO:0000895 ! modifies Phenotype of Sickle Cell Disease property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Clair Ingram)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4076272/ property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0008778 name: Dental Radiograph def: "A radiograph of dental structures made on x-ray film or stored as a digital image. The radiographs may be extraoral or intraoral. Three common types of intraoral dental images are periapical, interproximal, and occlusal radiographs." [] synonym: "Radiologic Examination, Teeth" EXACT [] is_a: SCDO:0000963 ! Radiography property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "\"dental radiograph.\" Mosby's Medical Dictionary, 8th edition. 2009. Elsevier 7 Nov. 2018 https://medical-dictionary.thefreedictionary.com/dental+radiograph" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0008888 name: Iron Chelation Therapy def: "The removal of excess iron from the body with special drugs." [] is_a: SCDO:0001133 ! Symptomatic Therapeutics relationship: SCDO:1000018 EUPATH:0000215 ! treats Severe Anemia relationship: SCDO:1000018 NCIT:C155310 ! treats Sickle Cell Disease-SD relationship: SCDO:1000018 NCIT:C95504 ! treats Hemoglobin H Disease relationship: SCDO:1000018 SCDO:0000115 ! treats Beta Zero Thalassemia relationship: SCDO:1000018 SCDO:0000518 ! treats Hemoglobin Barts Hydrops Fetalis property_value: SCDO:0000303 "Request inclusion into MESH below \"Chelation Therapy\"" xsd:string property_value: SCDO:0000340 http://www.irondisorders.org/chelation-therapy property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0008925 name: Autonomy def: "The capacity for self-governance, i.e. the ability to make reasonable decisions." [] is_a: GSSO:003239 ! Ethical Principle property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.hhs.gov/ohrp/sites/default/files/the-belmont-report-508c_FINAL.pdf xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 https://www.niehs.nih.gov/research/resources/bioethics/glossary/index.cfm property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0008937 name: Central Retinal Artery Occlusion def: "Blockage of blood flow in the central retinal artery. Results in sudden painless loss of vision and occurs in children and young adults. Thrombus formation in the retinal artery occurs spontaneously or in association with hyphema, Moyamoya and acute chest sydrome. There is no associated pain and it may be unilateral or bilateral." [] xref: HP:0025342 is_a: HP:0030680 ! Abnormal Cardiovascular System Morphology relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000303 "Suggest update to description in HPO" xsd:string property_value: SCDO:0000340 HP:0025342 property_value: SCDO:0000340 "SCD Management guidelines - Jamaica" xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0008990 name: Vertebral Collapse def: "Occurs where there is infarction of vertebral bone marrow, leading to collapse of the vertebrae with a typical 'fish mouth' appearance. It is often asymptomatic, but may cause acute and/or long term pain requiring analgesia and mechanical support such as a brace. Can be an acute or chronic bone problem in SCD." [] synonym: "Compression Fracture" EXACT [] synonym: "Fractures of Vertebral Bodies" EXACT [] synonym: "Vertebral Body Compression" EXACT [] synonym: "Vertebral Compression" EXACT [] synonym: "Vertebral Compression Fractures" EXACT [] synonym: "Vertebral Compression or Collapse" EXACT [] xref: HP:0002953 is_a: HP:0000924 ! Abnormality of the Skeletal System relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Suggest update to description in HPO (currently no description)." xsd:string property_value: SCDO:0000340 HP:0002953 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0009089 name: Non-Maleficience def: "Principle dictating that harm should not come to individuals as a result of their participation in a research project." [] is_a: GSSO:003239 ! Ethical Principle property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "Shamoo AE and Resnik DB, Responsible Conduct of Research, 3rd ed. (New York: Oxford University Press, 2015)." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0009117 name: Folate Deficiency def: "A nutritional condition produced by a deficiency of folic acid in the diet." [] synonym: "Deficiency of Folic Acid" EXACT [] synonym: "Deficiency of Folic Acid (Disorder)" EXACT [] synonym: "Folic Acid Deficiencies" EXACT [] synonym: "Folic Acid Deficiency" EXACT [] xref: EFO:0001070 is_a: SCDO:1000261 ! Avitaminosis property_value: http://purl.org/dc/elements/1.1/source EFO:0001070 property_value: SCDO:0000340 EFO:0001070 property_value: SCDO:0000661 "Alcohol interferes with its intermediate metabolism and absorption. Folic acid deficiency may develop in long-term anticonvulsant therapy or with use of oral contraceptives." xsd:string property_value: SCDO:0000662 "This deficiency causes anemia, macrocytic anemia, and megaloblastic anemia. It is indistinguishable from vitamin B 12 deficiency in peripheral blood and bone marrow findings, but the neurologic lesions seen in B 12 deficiency do not occur. (Merck Manual, 16th ed)" xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0009117 xsd:string [Term] id: SCDO:0009169 name: obsolete Sickle Plus Structural Variant def: "A hemoglobinopathy caused by compound heterozygous inheritance of one hemoglobin S allele and one hemoglobin allele that produces structurally abnormal hemoglobin." [] is_a: SCDO:0000359 ! deprecated terms property_value: SCDO:0000340 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3552344/ is_obsolete: true [Term] id: SCDO:0009279 name: Unstable Hemoglobin def: "Hemoglobin with decreased solubility in the red cell due to substitutions in the primary sequence of globin which alters the tertiary or quaternary structure of the molecule and results in a globin polypeptide/hemoglobin tetramer that is unstable and precipitates intracellularly, reducing the red blood cell lifespan." [] is_a: SCDO:0003807 ! Abnormal Hemoglobin property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion in the HPO, below \"Abnormal Hemoglobin\"." xsd:string property_value: SCDO:0000340 https://www.uptodate.com/contents/unstable-hemoglobin-variants property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:0009350 name: Splenic Sequestration def: "An acute condition of intrasplenic pooling of large amounts of blood." [] comment: Can cause severely acute anemia. synonym: "Blood Trapped in the Spleen" EXACT [] is_a: HP:0001743 ! Abnormality of the Spleen relationship: SCDO:1000202 SCDO:0008623 ! caused by Vaso-Occlusion relationship: SCDO:1000218 HP:0001923 ! has manifestation Reticulocytosis relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Suggest update to description in the Radiology Lexicon, or use their description \"Splenic sequestration occurs in sickle cell disease when sickled red blood cells become trapped in the spleen, causing it to enlarge.\"" xsd:string property_value: SCDO:0000340 http://www.ihtc.org/patient/blood-disorders/sickle-cell-disease/splenic-sequestration/ property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0009445 name: Renal Papillary Necrosis def: "A complication of kidney diseases characterized by cell death involving kidney papilla in the kidney medulla. Damages to this area may hinder the kidney to concentrate urine resulting in polyuria. Sloughed off necrotic tissue may block kidney pelvis or ureter. Necrosis of multiple renal papillae can lead to kidney failure." [] synonym: "Kidney Papillary Necrosis" EXACT [] synonym: "Necrotising Renal Papillitis" EXACT [] synonym: "Necrotizing Renal Papillitis" EXACT [] synonym: "Papillary Necrosis" EXACT [] synonym: "Papillary Necrosis (Disorder)" EXACT [] synonym: "Renal Papillitis Necrotizing" EXACT [] xref: EFO:1001004 is_a: HP:0000077 ! Abnormality of the Kidney relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000340 http://www.ebi.ac.uk/efo/EFO_1001004 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0009445 xsd:string [Term] id: SCDO:0009488 name: obsolete Molecule def: "'Any single chemical entity that is an electrically neutral entity consisting of more than one atom. Each atom carries a certain number of electrons that orbit around the nucleus.[Curator team: []]'" [] xref: CHEBI:25367 is_a: SCDO:0000359 ! deprecated terms property_value: SCDO:0000340 http://purl.obolibrary.org/obo/CHEBI_25367 xsd:string is_obsolete: true [Term] id: SCDO:0009532 name: Beneficence def: "Effort made to secure the well-being of persons, maximizing possible benefits and minimizing possible harms." [] xref: MESH:D026686 is_a: GSSO:003239 ! Ethical Principle property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000340 https://www.hhs.gov/ohrp/sites/default/files/the-belmont-report-508c_FINAL.pdf xsd:string property_value: SCDO:1000288 "Few but definitions not specific enough" xsd:string [Term] id: SCDO:0009613 name: Protein Phenotype def: "The physical characteristics and levels of proteins that characterize the state in a cell or tissue and that result from the interaction of its genotype and the environment." [] is_a: SCDO:0009884 ! Biochemical Phenotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into BioAssay Ontology below \"biochemical phenotype\".\n\nCan all sub-classes of the \"Gene Product\" class not be included here?\n\nCan this class not be removed but its sub-classes kept?" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0009620 name: deprecated Low Reticulocyte Count def: "An abnormally low number of reticulocytes per unit volume of blood." [] is_a: SCDO:0000359 ! deprecated terms property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://en.wikipedia.org/wiki/Reticulocyte property_value: SCDO:0000303 "Request inclusion into relevant ontology\n\nSymptom of aplastic crisis, possibly due to parvovirus B19 infection. Is there a certain value below which is considered a low reticulocyte count?" xsd:string property_value: SCDO:1000288 "Negligable" xsd:string is_obsolete: true replaced_by: SCDO:0001423 [Term] id: SCDO:0009635 name: deprecated Aplastic Crises def: "'The aplastic crisis is temporary cessation of red cell production. This usually affect sickle cell patients, because of the markedly shortened red cell survival time in patients with sickle cell disease, a precipitous drop in hemoglobin occurs in the absence of adequate reticulocytosis. [Curator team: []]'" [] is_a: SCDO:0001336 ! from phenotype property_value: SCDO:0000340 http://www.ihtc.org/medical-professionals/blood-disorders/sickle-cell-disease/aplastic-crisis-intervention/ xsd:string is_obsolete: true replaced_by: SCDO:0006847 [Term] id: SCDO:0009664 name: Abdominal Vaso-Occlusive Crisis def: "Pain resulting from tissue ischemia as a result of blockage of mesenteric blood vessels." [] is_a: SCDO:0001229 ! Vaso-Occlusive Crisis relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000153 ! in guideline Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "Akingbola TS, Kolude B, Aneni EC, et al. ABDOMINAL PAIN IN ADULT SICKLE CELL DISEASE PATIENTS: A NIGERIAN EXPERIENCE. Annals of Ibadan Postgraduate Medicine. 2011;9(2):100-104." xsd:string property_value: SCDO:0000340 "SCD Management guidelines - Tanzania" xsd:string property_value: SCDO:0000662 "Abdominal distension with generalised abdominal tenderness (no rebound tenderness) and reduced bowel sounds. Abdomen moves with respiration. Vomiting/diarrhoea are not common." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0009731 name: Beta Thalassemia Mutation def: "A mutation in the beta-globin gene, HBB, that causes decreased or absent beta-globin synthesis." [] is_a: IDOMAL:50000026 ! Mutation relationship: RO:0003303 SCDO:0000114 ! causes condition Beta Thalassemia Trait property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0009786 name: Other HBB Variants def: "A genetic mutation in the HBB gene that results in absent or decreased hemoglobin subunit beta or an abnormal hemoglobin other than Hb S." [] is_a: SCDO:1000038 ! SCD Causal Mutation property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Too specific to SCD to be included in other ontologies." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0009884 name: Biochemical Phenotype def: "The proteins and their post-translational modifications, lipids, carbohydrates and small molecules that characterize the state in a cell or tissue and that result from the interaction of its genotype and the environment." [] xref: BAO:0170003 is_a: SCDO:0007623 ! Molecular Phenotype property_value: SCDO:0000340 "details" property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0009884 xsd:string [Term] id: SCDO:0010000 name: obsolete Other Genotypes def: "'Genotypes which are not specific to sickle cell trait.'" [] is_a: SCDO:0000359 ! deprecated terms is_obsolete: true [Term] id: SCDO:0300002 name: Research Ethics def: "The moral obligations governing the conduct of research. Used for discussions of research ethics as a general topic." [] xref: MESH:D032984 is_a: NCIT:C39796 ! Ethics is_a: SCDO:0300005 ! Research Characteristics property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D032984 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0300002 xsd:string [Term] id: SCDO:0300003 name: Publication Formats def: "Specific genre of publication." [] xref: MESH:D052180 is_a: SCDO:0006339 ! Research property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D052180 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0300003 xsd:string [Term] id: SCDO:0300004 name: Epidemiologic Study Characteristics def: "Types and formulations of studies used in epidemiological and clinical research." [] xref: MESH:D016020 is_a: SCDO:0000437 ! Epidemiologic Studies property_value: SCDO:0000303 "Suggest update to description in MESH" xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D016020 xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:0300005 name: Research Characteristics def: "Elements, types, descriptions and formulations of a research study." [] is_a: SCDO:0006339 ! Research property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Gaston K. Mazandu)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:0300006 name: Information Disclosure def: "Revealing of information, by oral or written communication." [] xref: MESH:D030881 is_a: SCDO:0002125 ! Confidentiality property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D030881 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0300006 xsd:string [Term] id: SCDO:0300007 name: Parental Notification def: "Reporting to parents or guardians about care to be provided to a minor (minors)." [] xref: MESH:D035622 is_a: SCDO:0300006 ! Information Disclosure property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D035622 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0300007 xsd:string [Term] id: SCDO:0300008 name: Mandatory Reporting def: "A legal requirement that designated types of information acquired by professionals or institutions in the course of their work be reported to appropriate authorities." [] xref: MESH:D019221 is_a: SCDO:0300006 ! Information Disclosure property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D019221 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0300008 xsd:string [Term] id: SCDO:0300009 name: Data Anonymization def: "Making information permanently non-identifiable that is associated with the identity of specific entities via encryption or other methods." [] synonym: "Data De-Identification" EXACT [] synonym: "Data Masking" EXACT [] synonym: "De-Identification" EXACT [] xref: MESH:D000068240 is_a: SCDO:0002125 ! Confidentiality property_value: SCDO:0000303 "Suggest update to description in MESH" xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D000068240 xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:1000000 name: Acute Phenotype def: "An observable characteristic of disease that has a severe and rapid onset of symptoms with short duration." [] is_a: HP:0000118 ! Abnormal Phenotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Clair Ingram)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C14140 xsd:string property_value: SCDO:0000340 http://semanticscience.org/resource/SIO_010056 xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000001 name: deprecated Research Subject ID def: "A unique identifier generated either manually or electronically when adding a subject to a study." [] is_a: SCDO:0000359 ! deprecated terms is_obsolete: true replaced_by: SCDO:1000469 [Term] id: SCDO:1000004 name: Renal Replacement Therapy def: "Procedures which temporarily or permanently remedy insufficient cleansing of body fluids by the kidneys." [] xref: MESH:D017582 is_a: SCDO:0001129 ! Supportive Therapeutics relationship: SCDO:1000018 HP:0000084 ! treats Kidney Failure relationship: SCDO:1000018 HP:0009045 ! treats Exercise-Induced Rhabdomyolysis property_value: SCDO:0000303 "Could this and it's sub-classes not fall below any of the other main Therapeutics classes? Symptomatic?" xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D017582 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000004 xsd:string [Term] id: SCDO:1000007 name: Hemoglobin D def: "An abnormal hemoglobin caused by various point mutations within the HBB gene. This form of hemoglobin prevents red blood cells from carrying oxygen effectively. There are at least 8 different types of hemoglobin D." [] synonym: "Haemoglobin D" EXACT [] synonym: "Hb D" EXACT [] synonym: "HbD" EXACT [] is_a: SCDO:0003807 ! Abnormal Hemoglobin relationship: SCDO:1000210 SCDO:1000108 ! has causal or contributing genetic variation HBB, SER9TYR relationship: SCDO:1000210 SCDO:1000109 ! has causal or contributing genetic variation HBB, GLU121GLN relationship: SCDO:1000210 SCDO:1000110 ! has causal or contributing genetic variation HBB, GLY16ARG relationship: SCDO:1000210 SCDO:1000111 ! has causal or contributing genetic variation HBB, ASN19LYS relationship: SCDO:1000210 SCDO:1000112 ! has causal or contributing genetic variation HBB, GLU22GLN relationship: SCDO:1000210 SCDO:1000113 ! has causal or contributing genetic variation HBB, GLU22VAL relationship: SCDO:1000210 SCDO:1000114 ! has causal or contributing genetic variation HBB, THR87LYS relationship: SCDO:1000210 SCDO:1000115 ! has causal or contributing genetic variation HBB, GLU121ALA property_value: SCDO:0000303 "Request inclusion in the HPO, below \"Abnormal Hemoglobin\"." xsd:string property_value: SCDO:0000340 https://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/Hb-F-S-D property_value: SCDO:0000340 https://www.sciencedirect.com/science/article/pii/S1516848415000316 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000008 name: Hemoglobin M def: "A group of abnormal hemoglobins in which amino acid substitutions take place in either the alpha, beta or gamma chains but near the heme iron. This results in facilitated oxidation of the hemoglobin to yield excess methemoglobin which leads to cyanosis." [] synonym: "Hb M" EXACT [] synonym: "HbM Hemoglobin" EXACT [] xref: MESH:D006449 is_a: SCDO:0003807 ! Abnormal Hemoglobin property_value: SCDO:0000303 "Suggest update to description in MESH (to include \"gamma chains\")\nSuggest this term replaces \"Methemoglobinemia\" below \"Abnormal Hemoglobin\" in the HPO." xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D006449 xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:1000009 name: Hemoglobin E def: "An abnormal hemoglobin that results from the substitution of lysine for glutamic acid at position 26 of the beta chain. It is most frequently observed in southeast Asian populations." [] synonym: "Hb E" EXACT [] xref: MESH:D006446 is_a: SCDO:0000007 ! Abnormal Hemoglobin in SCD is_a: SCDO:0003807 ! Abnormal Hemoglobin relationship: SCDO:1000210 SCDO:1000042 ! has causal or contributing genetic variation HBB, GLU26LYS property_value: SCDO:0000303 "Request inclusion in the HPO, below \"Abnormal Hemoglobin\", for the sake of completion." xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D006446 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000009 xsd:string [Term] id: SCDO:1000010 name: Sickle Cell Disease-S/HPFH def: "A group of disorders caused by large deletions of the beta-globin gene complex; typically 30% fetal haemoglobin." [] synonym: "Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome" EXACT [] synonym: "HPFH-Sickle Cell Disease Syndrome" EXACT [] synonym: "Sickle Cell Disease Syndrome-Hereditary Persistence of Fetal Hemoglobin" EXACT [] synonym: "Sickle Cell Disease-S/Persistence of Fetal Hemoglobin" EXACT [] synonym: "Sickle Cell-Hereditary Persistence of Fetal Hemoglobin" EXACT [] is_a: SCDO:1000163 ! Compound Heterozygous Sickle Cell Disease is_a: SCDO:1000215 ! Structural and Quantitative Hemoglobinopathy relationship: SCDO:0000663 NCIT:C15709 ! diagnosed using tool Genetic Testing relationship: SCDO:0000663 SCDO:0003894 ! diagnosed using tool Gap PCR relationship: SCDO:1000172 SCDO:1000069 ! has causal genotype Hemoglobin Genotype S/HPFH relationship: SCDO:1000210 SCDO:0006860 ! has causal or contributing genetic variation HBG1 and/or HBG2 Mutations relationship: SCDO:1000210 SCDO:1000039 ! has causal or contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000210 SCDO:1000063 ! has causal or contributing genetic variation HBB, 106-KB DEL relationship: SCDO:1000218 HP:0001744 ! has manifestation Splenomegaly relationship: SCDO:1000218 HP:0010885 ! has manifestation Osteonecrosis relationship: SCDO:1000223 HP:0011904 ! has causal molecular phenotype Increased Hemoglobin F relationship: SCDO:1000223 SCDO:0000514 ! has causal molecular phenotype Hemoglobin S property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://ac.els-cdn.com/S014067361061029X/1-s2.0-S014067361061029X-main.pdf?_tid=691c25c0-5826-11e7-b704-00000aacb35e&acdnat=1498230953_4d1264c47385275daf8fc2a1e1de62e3 xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000012 name: Beta-Globin Family Members def: "Members of the beta-globin family. In humans, they are encoded in a gene cluster on chromosome 11. They include hemoglobin subunit epsilon, hemoglobin subunit gamma, hemoglobin subunit delta and hemoglobin subunit beta. There is also a pseudogene of beta (theta-beta) in the gene cluster. Adult hemoglobin is comprised of two alpha globin chains and two beta-globin chains." [] synonym: "Beta-Globins" EXACT [] xref: MESH:D055544 is_a: SCDO:0005339 ! Globin Phenotype is_a: SCDO:1000104 ! Hemoglobin Subunits property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D055544 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000012 xsd:string [Term] id: SCDO:1000013 name: HBB def: "This gene encodes the hemoglobin subunit beta and is located on chromosome 11 mapped at 11p15.5." [] synonym: "Beta-Globin Gene" EXACT [] synonym: "HBB Gene" EXACT [] synonym: "HBB1" EXACT [] synonym: "Hemoglobin Beta Gene" EXACT [] synonym: "Hemoglobin Beta Locus" EXACT [] synonym: "Hemoglobin Subunit Beta Gene" EXACT [] xref: NCBIGene:3043 is_a: SCDO:1000362 ! Beta-Globin Gene property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/GEXO?p=classes&conceptid=http%3A%2F%2Fidentifiers.org%2Fncbigene%2F3043 property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:1000014 name: HBD def: "This gene encodes the hemoglobin subunit delta, which is a component of hemoglobin A2, which plays a role in the transport of oxygen to tissues of the adult body, but exists only in small amounts in all adult humans (1.5-3.1% of all hemoglobin molecules)." [] synonym: "HBD Gene" EXACT [] synonym: "Hemoglobin Delta Gene" EXACT [] synonym: "Hemoglobin Subunit Delta Gene" EXACT [] xref: NCIT:C84961 is_a: SCDO:1000362 ! Beta-Globin Gene property_value: SCDO:0000303 "Suggest update to description in NCIT" xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/NCIT_C84961 xsd:string property_value: SCDO:0000340 https://en.wikipedia.org/wiki/HBD property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:1000016 name: Hemoglobin O-Arab def: "An abnormal hemoglobin that results from the substitution of glutamic acid with lysine at position 121 of the beta chain." [] synonym: "Hb O-Arab" EXACT [] synonym: "Hb-Arab" EXACT [] synonym: "Hemoglobin-Arab" EXACT [] is_a: SCDO:0000007 ! Abnormal Hemoglobin in SCD is_a: SCDO:0003807 ! Abnormal Hemoglobin relationship: SCDO:1000210 SCDO:1000040 ! has causal or contributing genetic variation HBB, GLU121LYS property_value: SCDO:0000303 "Request inclusion in the HPO, below \"Abnormal Hemoglobin\"." xsd:string property_value: SCDO:0000340 "MESH and Zimmerman SA. Am J Hematol. 1999 Apr; 60(4) 279-84" xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000017 name: Surgery def: "A material processing technique that uses operative manual and instrumental techniques on a patient to investigate and/or treat a pathological condition such as disease or injury or to help improve bodily function or appearance." [] xref: ERO:0000378 is_a: SCDO:0001133 ! Symptomatic Therapeutics relationship: SCDO:1000018 DOID:1188 ! treats Mononeuropathy relationship: SCDO:1000018 HP:0000815 ! treats Hypergonadotropic Hypogonadism relationship: SCDO:1000018 HP:0000962 ! treats Hyperkeratosis relationship: SCDO:1000018 HP:0001260 ! treats Dysarthria relationship: SCDO:1000018 HP:0001342 ! treats Cerebral Hemorrhage relationship: SCDO:1000018 HP:0001920 ! treats Renal Artery Stenosis relationship: SCDO:1000018 HP:0002138 ! treats Subarachnoid Hemorrhage relationship: SCDO:1000018 HP:0002164 ! treats Nail Dysplasia relationship: SCDO:1000018 HP:0002170 ! treats Intracranial Hemorrhage relationship: SCDO:1000018 HP:0002341 ! treats Cervical Cord Compression relationship: SCDO:1000018 HP:0002650 ! treats Scoliosis relationship: SCDO:1000018 HP:0002653 ! treats Bone Pain relationship: SCDO:1000018 HP:0002665 ! treats Lymphoma relationship: SCDO:1000018 HP:0002808 ! treats Kyphosis relationship: SCDO:1000018 HP:0003302 ! treats Spondylolisthesis relationship: SCDO:1000018 HP:0003418 ! treats Back Pain relationship: SCDO:1000018 HP:0009830 ! treats Peripheral Neuropathy relationship: SCDO:1000018 HP:0010628 ! treats Facial Nerve Palsy relationship: SCDO:1000018 HP:0010885 ! treats Osteonecrosis relationship: SCDO:1000018 HP:0011868 ! treats Sciatica relationship: SCDO:1000018 HP:0011886 ! treats Hyphema relationship: SCDO:1000018 HP:0012203 ! treats Onychomycosis relationship: SCDO:1000018 HP:0030049 ! treats Brain Abscess relationship: SCDO:1000018 HP:0030127 ! treats Endometriosis relationship: SCDO:1000018 HP:0100774 ! treats Hyperostosis relationship: SCDO:1000018 NCIT:C115319 ! treats Ophthalmologic Complication relationship: SCDO:1000018 OBI:1110053 ! treats Cancer relationship: SCDO:1000018 SCDO:0000454 ! treats Glaucoma (Secondary to Presence of Blood in the Anterior Chamber of the Eye) relationship: SCDO:1000018 SCDO:0000656 ! treats Intracranial Hypotension relationship: SCDO:1000018 SCDO:0000840 ! treats Osteomyelitis relationship: SCDO:1000018 SCDO:0001168 ! treats Transient Monocular Blindness property_value: SCDO:0000340 http://purl.obolibrary.org/obo/ERO_0000378 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000017 xsd:string [Term] id: SCDO:1000020 name: Treatment of Precipitating Factors def: "Treatment of factors associated with the definitive onset of a disease, illness, accident, behavioral response, or course of action. Usually one factor is more important or more obviously recognizable than others, if several are involved, and one may often be regarded as necessary. Examples include exposure to specific disease; amount or level of an infectious organism, drug, or noxious agent, etc." [] synonym: "Management of Precipitating Factors" EXACT [] synonym: "Management of Underlying Cause" EXACT [] synonym: "Treatment of Underlying Cause" EXACT [] is_a: SCDO:0001152 ! Therapeutics relationship: SCDO:1000018 DOID:1188 ! treats Mononeuropathy relationship: SCDO:1000018 HP:0000084 ! treats Kidney Failure relationship: SCDO:1000018 HP:0000096 ! treats Glomerulosclerosis relationship: SCDO:1000018 HP:0000099 ! treats Glomerulonephritis relationship: SCDO:1000018 HP:0000123 ! treats Nephritis relationship: SCDO:1000018 HP:0000815 ! treats Hypergonadotropic Hypogonadism relationship: SCDO:1000018 HP:0000823 ! treats Delayed Puberty relationship: SCDO:1000018 HP:0000843 ! treats Hyperparathyroidism relationship: SCDO:1000018 HP:0000952 ! treats Jaundice relationship: SCDO:1000018 HP:0000961 ! treats Cyanosis relationship: SCDO:1000018 HP:0000967 ! treats Petechiae relationship: SCDO:1000018 HP:0000980 ! treats Pallor relationship: SCDO:1000018 HP:0001271 ! treats Polyneuropathy relationship: SCDO:1000018 HP:0001298 ! treats Encephalopathy relationship: SCDO:1000018 HP:0001511 ! treats Intrauterine Growth Restriction relationship: SCDO:1000018 HP:0001789 ! treats Hydrops Fetalis relationship: SCDO:1000018 HP:0001970 ! treats Interstitial Nephritis relationship: SCDO:1000018 HP:0002007 ! treats Frontal Bossing relationship: SCDO:1000018 HP:0002157 ! treats Azotaemia relationship: SCDO:1000018 HP:0002829 ! treats Arthralgia relationship: SCDO:1000018 HP:0002955 ! treats Granulomatosis relationship: SCDO:1000018 HP:0003198 ! treats Myopathy relationship: SCDO:1000018 HP:0003418 ! treats Back Pain relationship: SCDO:1000018 HP:0003641 ! treats Hemoglobinuria relationship: SCDO:1000018 HP:0007340 ! treats Leg Weakness relationship: SCDO:1000018 HP:0009830 ! treats Peripheral Neuropathy relationship: SCDO:1000018 HP:0010628 ! treats Facial Nerve Palsy relationship: SCDO:1000018 HP:0011001 ! treats Increased Bone Mineral Density relationship: SCDO:1000018 HP:0012282 ! treats Morbilliform Rash relationship: SCDO:1000018 MP:0001762 ! treats Diuresis relationship: SCDO:1000018 MP:0001792 ! treats Impaired Wound Healing relationship: SCDO:1000018 NCIT:C115319 ! treats Ophthalmologic Complication relationship: SCDO:1000018 NCIT:C26702 ! treats Ataxia relationship: SCDO:1000018 SCDO:0000037 ! treats Albuminuria relationship: SCDO:1000018 SCDO:0000265 ! treats Coma relationship: SCDO:1000018 SCDO:0000465 ! treats Growth Delay relationship: SCDO:1000018 SCDO:0000743 ! treats Membranous Nephropathy relationship: SCDO:1000018 SCDO:0000796 ! treats Nephrotic Syndrome relationship: SCDO:1000018 SCDO:0000797 ! treats Nephrotic Range Proteinuria relationship: SCDO:1000018 SCDO:0000828 ! treats Oliguria relationship: SCDO:1000018 SCDO:0000839 ! treats Osteomalacia relationship: SCDO:1000018 SCDO:0000851 ! treats Pain relationship: SCDO:1000018 SCDO:0000932 ! treats Proteinuria relationship: SCDO:1000018 SCDO:0000986 ! treats Renal Tubular Acidosis relationship: SCDO:1000018 SCDO:0001105 ! treats Steroid-Resistant Nephrotic Syndrome relationship: SCDO:1000018 SCDO:0001168 ! treats Transient Monocular Blindness relationship: SCDO:1000018 SCDO:1000224 ! treats Easy Bruisability relationship: SCDO:1000018 SYMP:0019161 ! treats Muscle Pain property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D015985 xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000023 name: obsolete Evidence Code def: "'Every annotation must be attributed to a source, which may be a literature reference, another database or a computational analysis. The annotation must indicate what kind of evidence is found in the cited source to support the association between the gene product and the GO term. A simple controlled vocabulary is used to record evidence; and the evidence codes are simply the three-letter codes used to signify the type of evidence cited. [Curator team: Exact []]'" [] is_a: SCDO:0000359 ! deprecated terms property_value: SCDO:0000303 "The information in this class and its sub-classes will be migrated to evidence code properties." xsd:string property_value: SCDO:0000340 http://www.geneontology.org/faq/what-evidence-code xsd:string is_obsolete: true [Term] id: SCDO:1000024 name: obsolete IEA (inferred from electronic annotation) def: "'Used for annotations that depend directly on computation or automated transfer of annotations from a database, particularly when the analysis is performed internally and not published. A key feature that distinguishes this evidence code from others is that it is not made by a curator; use IEA when no curator has checked the specific annotation to verify its accuracy. [Curator team: Exact []]'" [] is_a: SCDO:1000023 ! obsolete Evidence Code property_value: SCDO:0000340 http://geneontology.org/page/automatically-assigned-evidence-codes xsd:string is_obsolete: true [Term] id: SCDO:1000025 name: obsolete PCS (published clinical study) def: "'This should be used for information extracted from articles in the medical literature. [Curator team: []]'" [] is_a: SCDO:1000023 ! obsolete Evidence Code is_obsolete: true [Term] id: SCDO:1000026 name: obsolete ICE (individual clinical experience) def: "'Can be used for annotations based on individual clinical experience. [Curator team: []]'" [] is_a: SCDO:1000023 ! obsolete Evidence Code is_obsolete: true [Term] id: SCDO:1000027 name: obsolete ITM (inferred by text-mining) def: "'Not described [Curator team: []]'" [] is_a: SCDO:1000023 ! obsolete Evidence Code is_obsolete: true [Term] id: SCDO:1000028 name: obsolete TAS (traceable author statement) def: "'Usually reviews or disease entries (e.g. OMIM) that only refers to the original publication. [Curator team: []]'" [] is_a: SCDO:1000023 ! obsolete Evidence Code is_obsolete: true [Term] id: SCDO:1000029 name: obsolete NAS (non-traceable author statement) def: "'used in all cases where the author makes a statement that a curator wants to capture but for which there are neither results presented nor a specific reference cited in the source used to make the annotation. [Curator team: []]'" [] is_a: SCDO:1000023 ! obsolete Evidence Code property_value: SCDO:0000340 http://www.geneontology.org/page/nas-non-traceable-author-statement xsd:string is_obsolete: true [Term] id: SCDO:1000030 name: obsolete IC (inferred by curator) def: "'Used for those cases where an annotation is not supported by any direct evidence, but can be reasonably inferred by a curator from other annotations, for which evidence is available. [Curator team: []]'" [] is_a: SCDO:1000023 ! obsolete Evidence Code property_value: SCDO:0000340 http://www.geneontology.org/page/ic-inferred-curator xsd:string is_obsolete: true [Term] id: SCDO:1000031 name: from personal attribute def: "Terms deprecated in the \"Personal Attribute\" class." [] is_a: SCDO:0000359 ! deprecated terms [Term] id: SCDO:1000032 name: Diagnostic Tool def: "A diagnostic instrument, technique, laboratory assay or test, or method of patient examination used for differential diagnosis." [] is_a: SCDO:0000379 ! Diagnostics property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000033 name: Diagnostic Instrument def: "A research instrument consisting of a series of questions and other prompts for the purpose of gathering information from respondents to assist with differential diagnosis." [] synonym: "Diagnostic Questionnaire" EXACT [] is_a: SCDO:1000032 ! Diagnostic Tool property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://en.wikipedia.org/wiki/Questionnaire xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000034 name: from diagnostics def: "Terms deprecated in the \"Diagnostics\" class." [] is_a: SCDO:0000359 ! deprecated terms [Term] id: SCDO:1000035 name: from therapeutics def: "Terms deprecated in the \"Therapeutics\" class." [] is_a: SCDO:0000359 ! deprecated terms [Term] id: SCDO:1000036 name: Hemoglobin C Present def: "When the abnormal hemoglobin, hemoglobin C (HbC), has been detected in a blood sample." [] synonym: "Haemoglobin C in Blood" EXACT [] synonym: "Haemoglobin C Present" EXACT [] synonym: "HbC in Blood" EXACT [] synonym: "HbC Present" EXACT [] synonym: "Hemoglobin C in Blood" EXACT [] is_a: HP:0020061 ! Abnormal Hemoglobin Concentration property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000037 name: Abnormality of the Cerebral Vasculature def: "An abnormality of the cerebral vasculature." [] synonym: "Abnormality of the Cerebral Blood Vessels" EXACT [] synonym: "Cerebrovascular Disorder" EXACT [] xref: HP:0100659 is_a: HP:0002597 ! Abnormality of the Vasculature property_value: SCDO:0000340 HP:0100659 property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000038 name: SCD Causal Mutation def: "A mutation wholly or partly responsible for causing a sickle cell disease." [] is_a: IDOMAL:50000026 ! Mutation property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology\n\nB-Thal mutations: -- http://onlinelibrary.wiley.com/doi/10.1111/j.1582-4934.2004.tb00278.x/pdf -- https://www.ncbi.nlm.nih.gov/pubmed/15153712" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000039 name: HBB, GLU6VAL def: "The glutamic acid in position 6 in the primary sequence of a beta-chain produced by the HBB gene is replaced by valine." [] synonym: "Beta S Mutation" EXACT [] synonym: "E6V" EXACT [] synonym: "Glu6Val" EXACT [] synonym: "Sickle Cell Mutation" EXACT [] is_a: SCDO:1000038 ! SCD Causal Mutation relationship: RO:0003302 NCIT:C131682 ! causes or contributes to condition Sickle Cell Disease-SS relationship: RO:0003302 SCDO:0001055 ! causes or contributes to condition Sickle Cell Trait relationship: RO:0003302 SCDO:0001059 ! causes or contributes to condition Sickle Cell Disease-SC relationship: RO:0003302 SCDO:0001061 ! causes or contributes to condition Sickle Cell Disease-S/D-Punjab relationship: RO:0003302 SCDO:0001062 ! causes or contributes to condition Sickle Cell Disease-SE relationship: RO:0003302 SCDO:0001063 ! causes or contributes to condition Sickle Cell Disease-S/Lepore Boston relationship: RO:0003302 SCDO:0001064 ! causes or contributes to condition Sickle Cell Disease-S/O-Arab relationship: RO:0003302 SCDO:1000010 ! causes or contributes to condition Sickle Cell Disease-S/HPFH relationship: RO:0003302 SCDO:1000062 ! causes or contributes to condition Sickle Cell Disease-S/C-Harlem relationship: RO:0003302 SCDO:1000086 ! causes or contributes to condition Sickle Cell Disease-S/Quebec Chori relationship: RO:0003302 SCDO:1000090 ! causes or contributes to condition Sickle Cell Disease-S/S-South End relationship: RO:0003302 SCDO:1000164 ! causes or contributes to condition Sickle Cell Disease A/Jamaica Plain relationship: RO:0003302 SCDO:1000165 ! causes or contributes to condition Sickle Cell Disease A/S-Oman relationship: RO:0003302 SCDO:1000166 ! causes or contributes to condition Sickle Cell Disease C/S Antilles relationship: RO:0003302 SCDO:1000205 ! causes or contributes to condition Hemoglobin C-Harlem Disease relationship: SCDO:1000184 SCDO:1000049 ! contributes to genotype Hemoglobin Genotype SC relationship: SCDO:1000184 SCDO:1000050 ! contributes to genotype Hemoglobin Genotype S/D-Punjab relationship: SCDO:1000184 SCDO:1000051 ! contributes to genotype Hemoglobin Genotype S/O-Arab relationship: SCDO:1000184 SCDO:1000052 ! contributes to genotype Hemoglobin Genotype SE relationship: SCDO:1000184 SCDO:1000053 ! contributes to genotype Hemoglobin Genotype SS relationship: SCDO:1000184 SCDO:1000054 ! contributes to genotype Hemoglobin Genotype SD relationship: SCDO:1000184 SCDO:1000056 ! contributes to genotype Hemoglobin Genotype S/C-Harlem relationship: SCDO:1000184 SCDO:1000067 ! contributes to genotype Hemoglobin Genotype S/Beta Zero Thalassaemia relationship: SCDO:1000184 SCDO:1000069 ! contributes to genotype Hemoglobin Genotype S/HPFH relationship: SCDO:1000184 SCDO:1000070 ! contributes to genotype Hemoglobin Genotype S/Lepore Boston relationship: SCDO:1000184 SCDO:1000071 ! contributes to genotype Hemoglobin Genotype A/Jamaica Plain relationship: SCDO:1000184 SCDO:1000075 ! contributes to genotype Hemoglobin Genotype A/S-Oman relationship: SCDO:1000184 SCDO:1000081 ! contributes to genotype Hemoglobin Genotype C/S Antilles relationship: SCDO:1000184 SCDO:1000084 ! contributes to genotype Hemoglobin Genotype S/Quebec-Chori relationship: SCDO:1000184 SCDO:1000088 ! contributes to genotype Hemoglobin Genotype S/S-South End relationship: SCDO:1000184 SCDO:1000107 ! contributes to genotype Hemoglobin Genotype S/Beta Thalassemia relationship: SCDO:1000184 SCDO:1000159 ! contributes to genotype Hemoglobin Genotype S/Beta Minus Thalassaemia relationship: SCDO:1000184 SCDO:1000161 ! contributes to genotype Hemoglobin Genotype AS relationship: SCDO:1000217 SCDO:0000514 ! causes or contributes to molecular phenotype Hemoglobin S relationship: SCDO:1000217 SCDO:1000058 ! causes or contributes to molecular phenotype Hemoglobin C-Harlem relationship: SCDO:1000217 SCDO:1000072 ! causes or contributes to molecular phenotype Hemoglobin Jamaica Plain relationship: SCDO:1000217 SCDO:1000073 ! causes or contributes to molecular phenotype Hemoglobin S-Antilles relationship: SCDO:1000217 SCDO:1000074 ! causes or contributes to molecular phenotype Hemoglobin S-Oman relationship: SCDO:1000217 SCDO:1000083 ! causes or contributes to molecular phenotype Hemoglobin S-South End property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://www.bloodjournal.org/content/bloodjournal/46/3/363.full.pdf?sso-checked=true xsd:string property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:1000040 name: HBB, GLU121LYS def: "A mutation where the glutamic acid in position 121 in the primary sequence of a beta-chain produced by the HBB gene is replaced by lysine. This mutation is found as a single alteration in Hemoglobin O-Arab and is one of the two contributing mutations to the production of Hemoglobin S-Oman." [] synonym: "Beta O-Arab Mutation" EXACT [] synonym: "Contributing Beta S-Oman Mutation" EXACT [] synonym: "Glu121Lys" EXACT [] is_a: SCDO:0009786 ! Other HBB Variants relationship: RO:0003302 SCDO:0000544 ! causes or contributes to condition Hemoglobin O-Arab Disease relationship: RO:0003302 SCDO:0000545 ! causes or contributes to condition Hemoglobin O-Arab Trait relationship: RO:0003302 SCDO:0001064 ! causes or contributes to condition Sickle Cell Disease-S/O-Arab relationship: RO:0003302 SCDO:1000165 ! causes or contributes to condition Sickle Cell Disease A/S-Oman relationship: SCDO:1000184 SCDO:1000051 ! contributes to genotype Hemoglobin Genotype S/O-Arab relationship: SCDO:1000184 SCDO:1000075 ! contributes to genotype Hemoglobin Genotype A/S-Oman relationship: SCDO:1000184 SCDO:1000228 ! contributes to genotype Hemoglobin Genotype AO-Arab relationship: SCDO:1000184 SCDO:1000231 ! contributes to genotype Hemoglobin Genotype O-Arab relationship: SCDO:1000217 SCDO:1000016 ! causes or contributes to molecular phenotype Hemoglobin O-Arab relationship: SCDO:1000217 SCDO:1000074 ! causes or contributes to molecular phenotype Hemoglobin S-Oman property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "0202" property_value: SCDO:0000340 "0245" property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:1000041 name: HBB, GLU6LYS def: "A mutation where the glutamic acid in position 6 in the primary sequence of a beta-chain produced by the HBB gene is replaced by lysine. This mutation results in the production of Hemoglobin C and confers resistance to malaria." [] synonym: "Beta C mutation" EXACT [] synonym: "HbC Mutation" EXACT [] is_a: SCDO:0009786 ! Other HBB Variants relationship: RO:0003302 SCDO:0000519 ! causes or contributes to condition Hemoglobin C Disease relationship: RO:0003302 SCDO:0000520 ! causes or contributes to condition Hemoglobin C Trait relationship: RO:0003302 SCDO:0001059 ! causes or contributes to condition Sickle Cell Disease-SC relationship: RO:0003302 SCDO:1000166 ! causes or contributes to condition Sickle Cell Disease C/S Antilles relationship: SCDO:1000184 SCDO:1000049 ! contributes to genotype Hemoglobin Genotype SC relationship: SCDO:1000184 SCDO:1000081 ! contributes to genotype Hemoglobin Genotype C/S Antilles relationship: SCDO:1000184 SCDO:1000225 ! contributes to genotype Hemoglobin Genotype AC relationship: SCDO:1000184 SCDO:1000232 ! contributes to genotype Hemoglobin Genotype CC relationship: SCDO:1000217 SCDO:0000513 ! causes or contributes to molecular phenotype Hemoglobin C property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "0038" property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:1000042 name: HBB, GLU26LYS def: "A mutation in the HBB gene causing substitution of glutamic acid for lysine at the 26th position of the beta-globin chain." [] synonym: "Beta E Mutation" EXACT [] synonym: "HbE Mutation" EXACT [] is_a: SCDO:0001765 ! Beta-Minus Thalassemia Mutation is_a: SCDO:0009786 ! Other HBB Variants relationship: RO:0003302 SCDO:0000531 ! causes or contributes to condition Hemoglobin E Trait relationship: RO:0003302 SCDO:0001062 ! causes or contributes to condition Sickle Cell Disease-SE relationship: SCDO:1000184 SCDO:1000052 ! contributes to genotype Hemoglobin Genotype SE relationship: SCDO:1000184 SCDO:1000227 ! contributes to genotype Hemoglobin Genotype AE relationship: SCDO:1000184 SCDO:1000229 ! contributes to genotype Hemoglobin Genotype EE relationship: SCDO:1000217 SCDO:1000009 ! causes or contributes to molecular phenotype Hemoglobin E property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "0071" property_value: SCDO:0000340 http://www.orpha.net/data/patho/GB/uk-HbE.pdf property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:1000043 name: Gender Identity def: "A person's concept of self as being male and masculine or female and feminine, or ambivalent, based in part on physical characteristics, parental responses, and psychological and social pressures. It is the internal experience of gender role." [] xref: MESH:D005783 is_a: NCIT:C19332 ! Personal Attribute property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D005783 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000043 xsd:string [Term] id: SCDO:1000044 name: HBB, ASP73ASN def: "A mutation where the aspartic acid in position 73 in the primary sequence of a beta-chain produced by the HBB gene is replaced by asparagine. This mutation is found as a single alteration in Hemoglobin Korle Bu and is one of the two contributing mutations to the production of Hemoglobin C-Harlem." [] synonym: "Asp73Asn" EXACT [] synonym: "D73N" EXACT [] is_a: SCDO:0009786 ! Other HBB Variants relationship: RO:0003302 SCDO:1000062 ! causes or contributes to condition Sickle Cell Disease-S/C-Harlem relationship: RO:0003302 SCDO:1000205 ! causes or contributes to condition Hemoglobin C-Harlem Disease relationship: SCDO:1000184 SCDO:1000056 ! contributes to genotype Hemoglobin Genotype S/C-Harlem relationship: SCDO:1000217 SCDO:1000058 ! causes or contributes to molecular phenotype Hemoglobin C-Harlem property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://www.bloodjournal.org/content/bloodjournal/46/3/363.full.pdf?sso-checked=true xsd:string property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:1000045 name: HBB, VAL23ILE def: "A mutation where the valine in position 23 in the primary sequence of a beta-chain produced by the HBB gene is replaced by isoleucine. When compounded with the HbS mutation in the same gene, the sickling Hemoglobin S-Antilles is produced." [] synonym: "Contributing Beta S-Antilles Mutation" EXACT [] synonym: "Contributing Hb S-Antilles Mutation" EXACT [] is_a: SCDO:0009786 ! Other HBB Variants relationship: RO:0003302 SCDO:1000166 ! causes or contributes to condition Sickle Cell Disease C/S Antilles relationship: SCDO:1000184 SCDO:1000081 ! contributes to genotype Hemoglobin Genotype C/S Antilles relationship: SCDO:1000217 SCDO:1000073 ! causes or contributes to molecular phenotype Hemoglobin S-Antilles property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "0244" property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:1000046 name: HBB, THR87ILE def: "A mutation where the threonine in position 87 in the primary sequence of a beta-chain produced by the HBB gene is replaced by isoleucine. This mutation is found as a single alteration in Hemoglobin Quebec-Chori. Compound heterozygosity for Hb Quebec-chori and Hb S results in sickle cell disease." [] synonym: "Hb Quebec-Chori Mutation" EXACT [] is_a: SCDO:0009786 ! Other HBB Variants relationship: RO:0003302 SCDO:1000086 ! causes or contributes to condition Sickle Cell Disease-S/Quebec Chori relationship: SCDO:1000184 SCDO:1000084 ! contributes to genotype Hemoglobin Genotype S/Quebec-Chori relationship: SCDO:1000217 SCDO:1000085 ! causes or contributes to molecular phenotype Hemoglobin Quebec Chori property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "0403" property_value: SCDO:0000340 "Witkowska, H. E., Lubin, B. H., Beuzard, Y., Baruchel, S., Esseltine, D. W., Vichinsky, E. P., Kleman, K. M., Bardakdjian-Michau, J., Pinkoski, L., Cahn, S., Roitman, E., Green, B. N., Falick, A. M., Shackleton, C. H. L. Sickle cell disease in a patient with sickle cell trait and compound heterozygosity for hemoglobin S and hemoglobin Quebec-Chori. New Eng. J. Med. 325: 1150-1154, 1991." xsd:string property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:1000047 name: HBB, LEU68PHE def: "A mutation where the leusine residue in position 6 in the primary sequence of a beta-chain produced by the HBB gene is replaced by phenylalanine. This mutation on its own produces a stable hemoglobin that does not result in hemolysis (Hb Rockford), but when in combination with the Hb S mutation (HBB, GLU6VAL), the symptomatic Hb Jamaica Plain is produced." [] synonym: "Contributing Hb Jamaica Plain Mutation" EXACT [] is_a: SCDO:0009786 ! Other HBB Variants relationship: RO:0003302 SCDO:1000164 ! causes or contributes to condition Sickle Cell Disease A/Jamaica Plain relationship: SCDO:1000184 SCDO:1000071 ! contributes to genotype Hemoglobin Genotype A/Jamaica Plain relationship: SCDO:1000217 SCDO:1000072 ! causes or contributes to molecular phenotype Hemoglobin Jamaica Plain property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "0524" property_value: SCDO:0000340 "Perrault, J., Fairbanks, V. F., McCormick, D. J., Kubik, K., Madden, B. J., Holmes, M. W., Hoyer, J. D. Hemoglobin Rockford, beta68(E12)leu-to-phe: a new HB variant associated with mild anemia. (Abstract) Blood 90 (Suppl. 1): 30b, 1997." xsd:string property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:1000048 name: SCD Genotype def: "The alleles, or variant forms of the HBB gene, that are carried by an SCD sufferer." [] synonym: "Sickle Cell Disease Genotype" EXACT [] synonym: "Sickle Genotype" EXACT [] is_a: SCDO:0004061 ! Genotype relationship: SCDO:1000015 SCDO:0000895 ! modifies Phenotype of Sickle Cell Disease property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4459467/ property_value: SCDO:0000303 "Probably too specific to be included in other ontologies.\n\nPaper mentioning haplotypes and severity: -- https://www.nature.com/scitable/topicpage/sickle-cell-anemia-a-look-at-global-8756219 -- -- Table of SCD Genotypes: -- http://onlinelibrary.wiley.com/doi/10.1111/j.1582-4934.2004.tb00278.x/pdf -- -- HBB allelic variants: -- https://www.omim.org/entry/141900#0243 -- -- Perhaps have parent class Hemoglobinopathy Genotype, with Hemoglobinopathy Trait below that?" xsd:string property_value: SCDO:0000340 http://www.nature.com/scitable/definition/genotype-234 xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000049 name: Hemoglobin Genotype SC def: "The genotype when an individual has the Hb C gene from one parent and the Hb S gene from the other. Individuals with Hb SC have similar symptoms to individuals with Hb SS, however, the anemia is less severe." [] synonym: "beta6Glu>Val/beta6Glu>Lys" EXACT [] synonym: "Haemoglobin Genotype SC" EXACT [] synonym: "SC Genotype" EXACT [] is_a: SCDO:1000048 ! SCD Genotype relationship: RO:0003303 SCDO:0001059 ! causes condition Sickle Cell Disease-SC relationship: SCDO:1000196 SCDO:1000039 ! has contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000196 SCDO:1000041 ! has contributing genetic variation HBB, GLU6LYS relationship: SCDO:1000222 SCDO:0000513 ! causes molecular phenotype Hemoglobin C relationship: SCDO:1000222 SCDO:0000514 ! causes molecular phenotype Hemoglobin S property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source http://purl.bioontology.org/ontology/MESH/D006450 property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000050 name: Hemoglobin Genotype S/D-Punjab def: "Compound heterozygosity for the hemoglobin S (HBB Glu6Val) and hemoglobin D-Punjab (HBB Glu121Gln) variants." [] synonym: "beta6Glu>Val/beta121Glu>Gln" EXACT [] synonym: "Haemoglobin Genotype S/D-Punjab" EXACT [] synonym: "S/D-Punjab Genotype" EXACT [] is_a: SCDO:1000054 ! Hemoglobin Genotype SD relationship: RO:0003303 SCDO:0001061 ! causes condition Sickle Cell Disease-S/D-Punjab relationship: SCDO:1000196 SCDO:1000039 ! has contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000196 SCDO:1000109 ! has contributing genetic variation HBB, GLU121GLN relationship: SCDO:1000222 SCDO:0000514 ! causes molecular phenotype Hemoglobin S relationship: SCDO:1000222 SCDO:0000528 ! causes molecular phenotype Hemoglobin D-Punjab property_value: SCDO:0000303 "Hemoglobin Genotype S/D-Punjab" xsd:string property_value: SCDO:0000340 "Torres LS, Okumura JV, Silva DG, Bonini-Domingos CR. Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis. Rev Bras Hematol Hemoter. 2015;37(2): 120–126. pmid:25818823" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000051 name: Hemoglobin Genotype S/O-Arab def: "Compound heterozygosity for the hemoglobin S (HBB Glu6Val) and hemoglobin O-Arab (HBB GluU121Lys) variants." [] synonym: "beta6Glu>Val/beta121Glu>Lys" EXACT [] synonym: "Haemoglobin Genotype S/OArab" EXACT [] synonym: "S/O-Arab Genotype" EXACT [] is_a: SCDO:1000048 ! SCD Genotype relationship: RO:0003303 SCDO:0001064 ! causes condition Sickle Cell Disease-S/O-Arab relationship: SCDO:1000196 SCDO:1000039 ! has contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000196 SCDO:1000040 ! has contributing genetic variation HBB, GLU121LYS relationship: SCDO:1000222 SCDO:0000514 ! causes molecular phenotype Hemoglobin S relationship: SCDO:1000222 SCDO:1000016 ! causes molecular phenotype Hemoglobin O-Arab property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "Lancet. 2010 Dec 11;376(9757):2018-31. doi: 10.1016/S0140-6736(10)61029-X. Epub 2010 Dec 3." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000052 name: Hemoglobin Genotype SE def: "Compound heterozygosity for the hemoglobin S (HBB Glu6Val) and hemoglobin E (HBB Glu26Lys) variants." [] synonym: "beta6Glu>Val/beta26Glu>Lys" EXACT [] synonym: "Haemoglobin Genotype SE" EXACT [] synonym: "SE Genotype" EXACT [] synonym: "SE Hemoglobin Genotype" EXACT [] is_a: SCDO:1000048 ! SCD Genotype relationship: RO:0003303 SCDO:0001062 ! causes condition Sickle Cell Disease-SE relationship: SCDO:1000196 SCDO:1000039 ! has contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000196 SCDO:1000042 ! has contributing genetic variation HBB, GLU26LYS relationship: SCDO:1000222 SCDO:0000514 ! causes molecular phenotype Hemoglobin S relationship: SCDO:1000222 SCDO:1000009 ! causes molecular phenotype Hemoglobin E property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "Lancet. 2010 Dec 11;376(9757):2018-31. doi: 10.1016/S0140-6736(10)61029-X. Epub 2010 Dec 3." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000053 name: Hemoglobin Genotype SS def: "The homozygous genotype that involves a substitution of glutamic acid for a valine at position 6 of beta-globin chains produced by both beta-globin gene (HBB) alleles." [] synonym: "beta6Glu>Val/beta6Glu>Val" EXACT [] synonym: "Haemoglobin Genotype SS" EXACT [] synonym: "Hemoglobin S Genotype" EXACT [] synonym: "SS Genotype" EXACT [] is_a: SCDO:1000048 ! SCD Genotype relationship: RO:0003303 NCIT:C131682 ! causes condition Sickle Cell Disease-SS relationship: SCDO:1000196 SCDO:1000039 ! has contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000222 SCDO:0000514 ! causes molecular phenotype Hemoglobin S property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "Few but definitions not specific enough" xsd:string [Term] id: SCDO:1000054 name: Hemoglobin Genotype SD def: "Compound heterozygous inheritance of Hb S and Hb D mutations. Hb S occurs from substitution of valine for glutamic acid in the beta-6 position (beta6Glu>Val). Hb D generally results from substitution of glutamic acid for glutamine at beta-121 (beta121Glu>Gln); such as the Hb D-Punjab/Hb D-Los Angeles variants. There are several other Hb D variants, including Hb D-Iband where threonine is substituted by lysine at beta-87 (beta87Thr>Lys) and Hb D-Iran where glutamic acid is substituted by glutamine at beta-22 (beta22Glu>Gln)." [] synonym: "Haemoglobin Genotype SD" EXACT [] synonym: "SD Genotype" EXACT [] is_a: SCDO:1000048 ! SCD Genotype relationship: RO:0003303 NCIT:C155310 ! causes condition Sickle Cell Disease-SD relationship: SCDO:1000196 SCDO:1000039 ! has contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000196 SCDO:1000108 ! has contributing genetic variation HBB, SER9TYR relationship: SCDO:1000196 SCDO:1000109 ! has contributing genetic variation HBB, GLU121GLN relationship: SCDO:1000196 SCDO:1000110 ! has contributing genetic variation HBB, GLY16ARG relationship: SCDO:1000196 SCDO:1000111 ! has contributing genetic variation HBB, ASN19LYS relationship: SCDO:1000196 SCDO:1000112 ! has contributing genetic variation HBB, GLU22GLN relationship: SCDO:1000196 SCDO:1000113 ! has contributing genetic variation HBB, GLU22VAL relationship: SCDO:1000196 SCDO:1000114 ! has contributing genetic variation HBB, THR87LYS relationship: SCDO:1000196 SCDO:1000115 ! has contributing genetic variation HBB, GLU121ALA relationship: SCDO:1000222 SCDO:0000514 ! causes molecular phenotype Hemoglobin S relationship: SCDO:1000222 SCDO:1000007 ! causes molecular phenotype Hemoglobin D property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 https://health.utah.gov/newbornscreening/Disorders/HB/Hb_SD_Disease_SD/FactSheet_Provider_HbSD_En.pdf property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000056 name: Hemoglobin Genotype S/C-Harlem def: "Compound heterozygous inheritance of Hb S and Hb C-Harlem mutations. Hb S occurs from substitution of valine for glutamic acid in the beta-6 position (beta6Glu>Val). Hb C-Harlem involves two substitutions in each beta-chain: the first being identical to that found in Hb S, and the second being a substitution of aspartic acid at position 73 by asparagine (beta73Asp>Asn)." [] synonym: "beta6Glu>Val/beta6Glu>Val, beta73Asp>Asn" EXACT [] synonym: "Haemoglobin Genotype S/C-Harlem" EXACT [] synonym: "S/C-Harlem Genotype" EXACT [] is_a: SCDO:1000048 ! SCD Genotype relationship: RO:0003303 SCDO:1000062 ! causes condition Sickle Cell Disease-S/C-Harlem relationship: SCDO:1000196 SCDO:1000039 ! has contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000196 SCDO:1000044 ! has contributing genetic variation HBB, ASP73ASN relationship: SCDO:1000222 SCDO:0000514 ! causes molecular phenotype Hemoglobin S relationship: SCDO:1000222 SCDO:1000058 ! causes molecular phenotype Hemoglobin C-Harlem property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "PMID: 1148394" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000058 name: Hemoglobin C-Harlem def: "An abnormal hemoglobin in which two mutations occur in its beta-chains results in the sickling of red blood cells containing this hemoglobin. The sickling is the result of the mutation in which glutamic acid in position 6 is replaced by valine, which is not counteracted by the second mutation, in which the aspartic acid in position 73 is replaced by asparagine." [] synonym: "HbS-HBC-Harlem" EXACT [] synonym: "Hemoglobin C-Georgetown" EXACT [] synonym: "Hemoglobin S-Hemoglobin C-Harlem" EXACT [] is_a: SCDO:1000082 ! Sickling Hemoglobin with Two Beta-Globin Gene Substitutions relationship: SCDO:1000210 SCDO:1000039 ! has causal or contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000210 SCDO:1000044 ! has causal or contributing genetic variation HBB, ASP73ASN property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into the HPO, below \"Abnormal Hemoglobin\"/\"Sickling Hemoglobin with Two Beta-Globin Gene Substitutions\"." xsd:string property_value: SCDO:0000340 https://www.omim.org/entry/141900#0243 xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000059 name: Hemoglobin D-Punjab Trait def: "The inheritance of the gene for hemoglobin D-Punjab from one parent and a gene for normal adult hemoglobin (hemoglobin A) from the other parent." [] comment: Hemoglobin D-Punjab Trait causes no clinical or hematological alterations synonym: "Hb AD-Punjab" EXACT [] is_a: SCDO:0000525 ! Hemoglobin D Trait relationship: SCDO:1000210 SCDO:1000109 ! has causal or contributing genetic variation HBB, GLU121GLN property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382585/ property_value: SCDO:0000303 "Request inclusion into NCIT below \"Hemoglobin Trait\"." xsd:string property_value: SCDO:0000340 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382585/ property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000060 name: SCD Molecular Phenotype def: "The underlying molecular makeup resulting in sickle cell disease." [] is_a: SCDO:0007623 ! Molecular Phenotype relationship: SCDO:1000015 SCDO:0000895 ! modifies Phenotype of Sickle Cell Disease property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Clair Ingram)" xsd:string property_value: SCDO:0000303 "Probably too specific to warrant inclusion into anther ontology.\n\nConsider inclusion of other sub-classes of this term in the Human Phenotype Ontology. -- - Elevated hemoglobin A1c -- - Imbalanced Hemoglobin Synthesis (and the 2 terms below this) -- Methemoglobina -- Others from MESH?: -- J, M, Methemoglobin?" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000061 name: Altered Level of Normal Hemoglobin in SCD def: "An altered level of normal hemoglobin (Hemoglobin A (Hb A), Hemoglobin A2 (Hb A2) or Hemoglobin F (Hb F, fetal hemoglobin) in the blood, which may be seen in those suffering with Sickle Cell Disease (SCD)." [] is_a: SCDO:1000276 ! Abnormal Hemoglobin Level in SCD relationship: SCDO:1000015 SCDO:0000895 ! modifies Phenotype of Sickle Cell Disease property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Probably too specific to SCD be included in other ontologies." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000062 name: Sickle Cell Disease-S/C-Harlem def: "A rare type of sickle cell disease with the compound heterozygous genotype involving the mutations for Hemoglobin S and Hemoglobin C-Harlem. This condition is described to have a clinical course similar to sickle cell anemia." [] synonym: "SC(Harlem) Disease" EXACT [] synonym: "Sickle Cell-Hemoglobin C-Harlem Disease" EXACT [] is_a: SCDO:0008262 ! Structural Hemoglobinopathy is_a: SCDO:1000163 ! Compound Heterozygous Sickle Cell Disease relationship: SCDO:0000663 NCIT:C15709 ! diagnosed using tool Genetic Testing relationship: SCDO:0001364 HP:0000006 ! has mode of inheritance Autosomal Dominant relationship: SCDO:1000172 SCDO:1000056 ! has causal genotype Hemoglobin Genotype S/C-Harlem relationship: SCDO:1000210 SCDO:1000039 ! has causal or contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000210 SCDO:1000044 ! has causal or contributing genetic variation HBB, ASP73ASN relationship: SCDO:1000223 SCDO:0000514 ! has causal molecular phenotype Hemoglobin S relationship: SCDO:1000223 SCDO:1000058 ! has causal molecular phenotype Hemoglobin C-Harlem property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Clair Ingram)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "Moo-Penn, W., Bechtel, K., Jue, D., Chan, M.S., Hopkins, G., Schneider, N.J., Wright, J. and Schmidt, R.M., 1975. The presence of hemoglobin S and C Harlem in an individual in the United States. Blood, 46(3), pp.363-367." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000063 name: HBB, 106-KB DEL def: "A 106-kb deletion of the beta globin gene cluster." [] synonym: "HPFH1" EXACT [] is_a: SCDO:0004905 ! Beta-Globin Locus Deletion is_a: SCDO:0009786 ! Other HBB Variants relationship: RO:0003302 NCIT:C129072 ! causes or contributes to condition Hereditary Persistence of Fetal Hemoglobin relationship: RO:0003302 SCDO:1000010 ! causes or contributes to condition Sickle Cell Disease-S/HPFH relationship: SCDO:1000015 SCDO:1000707 ! modifies Hemoglobin F Level relationship: SCDO:1000184 SCDO:1000069 ! contributes to genotype Hemoglobin Genotype S/HPFH relationship: SCDO:1000184 SCDO:1000235 ! contributes to genotype Hereditary Persistence of Fetal Hemoglobin Genotype relationship: SCDO:1000217 HP:0011904 ! causes or contributes to molecular phenotype Increased Hemoglobin F property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "0538" property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:1000064 name: Tiered Consent def: "A consent model in which participants are given a set of options allowing them to select how they want to participate in the research." [] is_a: NCIT:C25460 ! Consent property_value: SCDO:0000303 "Request inclusion into the Informed Consent Ontology." xsd:string property_value: SCDO:0000340 https://www.genome.gov/27559022/informed-consent-glossary/ xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000065 name: Specific Consent def: "Requires that consent to the use of human samples be specific to the 'purpose' for which the sample is to be used and that where previously collected samples are to be used for a different 'research purpose' further consent should generally be obtained." [] is_a: SCDO:0007087 ! Informed Consent property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into the ICO below \"Informed Consent\"." xsd:string property_value: SCDO:0000340 https://www.alrc.gov.au/publications/15-human-genetic-research-and-consent/specific-consent xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000066 name: Hemoglobin F Test def: "The determination of the amount of hemoglobin F present in a sample." [] synonym: "Fetal Hemoglobin Test" EXACT [] synonym: "HGBF Test" EXACT [] xref: NCIT:C92262 is_a: SCDO:0000522 ! Hemoglobin Variant Test property_value: SCDO:0000303 "Suggest update to label in NCIT (from \"Hemoglobin F Measurement\")\n\nAdd sub-classes of \"Fetal hemoglobin determination\" in SNOMED CT?" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C92262 property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:1000067 name: Hemoglobin Genotype S/Beta Zero Thalassaemia def: "When one beta-globin gene carries the hemoglobin S mutation (beta6Glu>Val) whereas the other carries a null mutation, called beta-zero, because of the resulting inability to synthesize any beta-globin chain." [] synonym: "S/Beta-Zero-Thal Genotype" EXACT [] synonym: "S/Beta-Zero-Thalassaemia Genotype" EXACT [] synonym: "S/Beta-Zero-Thalassemia" EXACT [] is_a: SCDO:1000107 ! Hemoglobin Genotype S/Beta Thalassemia relationship: RO:0003303 NCIT:C98835 ! causes condition Sickle Cell Disease-S Beta Zero Thalassemia relationship: SCDO:1000196 SCDO:0002475 ! has contributing genetic variation Beta-Zero Thalassemia Mutation relationship: SCDO:1000196 SCDO:1000039 ! has contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000222 SCDO:0000514 ! causes molecular phenotype Hemoglobin S relationship: SCDO:1000222 SCDO:1000241 ! causes molecular phenotype Absent Hemoglobin A property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "ref_8020" property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000068 name: deprecated Severe S/Beta-Plus-Thal def: "'Genotype where a person is a compound heterozygote for the hemoglobin S mutation and a severe beta plus thalassemia mutation. Source: CLAIR [Curator team: []]'" [] synonym: "Severe S/Beta-Plus-Thal" EXACT [] synonym: "Severe S/Beta-Plus-Thal Genotype" EXACT [] synonym: "Severe S/Beta-Plus-Thalassaemia Genotype" EXACT [] is_a: SCDO:1000091 ! deprecated Sickle beta plus thalassemia property_value: SCDO:0000340 "Rees, D.C., Williams, T.N. and Gladwin, M.T., 2010. Sickle-cell disease. The Lancet, 376(9757), pp.2018-2031." xsd:string is_obsolete: true replaced_by: SCDO:1000078 [Term] id: SCDO:1000069 name: Hemoglobin Genotype S/HPFH def: "Genotype whereby a person is heterozygous for a hemoglobin S mutation and heterozygous for a mutation that causes persistant fetal hemoglobin production into adulthood. HPFH causative mutations are largely due to deletions in the beta-globin locus, but also by point mutations in the gamma-globin gene promoters." [] synonym: "Haemoglobin Genotype S/HPFH" EXACT [] synonym: "S/HPFH Genotype" EXACT [] is_a: SCDO:1000048 ! SCD Genotype relationship: RO:0003303 SCDO:1000010 ! causes condition Sickle Cell Disease-S/HPFH relationship: SCDO:1000196 SCDO:0006860 ! has contributing genetic variation HBG1 and/or HBG2 Mutations relationship: SCDO:1000196 SCDO:1000039 ! has contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000196 SCDO:1000063 ! has contributing genetic variation HBB, 106-KB DEL relationship: SCDO:1000222 HP:0011904 ! causes molecular phenotype Increased Hemoglobin F relationship: SCDO:1000222 SCDO:0000514 ! causes molecular phenotype Hemoglobin S property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Clair Ingram)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "Stamatoyannopoulos, G. (2005). Control of globin gene expression during development and erythroid differentiation. Experimental Hematology, 33(3), 259. http://doi.org/10.1016/j.exphem.2004.11.007" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000070 name: Hemoglobin Genotype S/Lepore Boston def: "A compound heterozygous genotype, involving the mutations for Hemoglobin S (beta6Glu>Val) and Hemoglobin Lepore Boston." [] synonym: "Haemoglobin Genotype S/Lepore" EXACT [] synonym: "S/Lepore" EXACT [] synonym: "S/Lepore Boston Genotype" EXACT [] synonym: "S/Lepore Genotype" EXACT [] is_a: SCDO:1000107 ! Hemoglobin Genotype S/Beta Thalassemia relationship: RO:0003303 SCDO:0001063 ! causes condition Sickle Cell Disease-S/Lepore Boston relationship: SCDO:1000196 SCDO:1000039 ! has contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000196 SCDO:1000209 ! has contributing genetic variation Crossover between delta (HBD) and beta globin (HBB) gene loci relationship: SCDO:1000222 SCDO:0000514 ! causes molecular phenotype Hemoglobin S relationship: SCDO:1000222 SCDO:1000089 ! causes molecular phenotype Hemoglobin Lepore Boston property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "PMID: 7055103" xsd:string property_value: SCDO:0000340 "Stevens MC, Lehmann H, Mason KP, Serjeant BE, Serjeant GR. 1982. Sickle cell Hb Lepore Boston syndrome. Uncommon differential diagnosis to homozygous sickle cell disease. Am J Dis Child. 136(1):19-22." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000071 name: Hemoglobin Genotype A/Jamaica Plain def: "A genotype that involves a double mutation in one beta-globin gene that results in hemoglobin with low oxygen affinity, which results in the polymerisation of the hemoglobin variant (hemoglobin Jamaica Plain) and thus sickling of erythorcytes." [] synonym: "A/Jamaica Plain Genotype" EXACT [] synonym: "A/Jamaica Plain Haemoglobin Genotype" EXACT [] synonym: "A/Jamaica Plain Hemoglobin Genotype" EXACT [] synonym: "Haemoglobin Genotype A/Jamaica Plain" EXACT [] is_a: SCDO:1000048 ! SCD Genotype relationship: RO:0003303 SCDO:1000164 ! causes condition Sickle Cell Disease A/Jamaica Plain relationship: SCDO:1000196 SCDO:1000039 ! has contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000196 SCDO:1000047 ! has contributing genetic variation HBB, LEU68PHE relationship: SCDO:1000222 SCDO:1000072 ! causes molecular phenotype Hemoglobin Jamaica Plain property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://ac.els-cdn.com/S014067361061029X/1-s2.0-S014067361061029X-main.pdf?_tid=691c25c0-5826-11e7-b704-00000aacb35e&acdnat=1498230953_4d1264c47385275daf8fc2a1e1de62e3 xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000072 name: Hemoglobin Jamaica Plain def: "A sickling hemoglobin with reduced oxygen affinity that causes severe hemolytic anemia and sickling of erythrocytes." [] synonym: "Hb Jamaica Plain" EXACT [] synonym: "Hb JP" EXACT [] synonym: "Hemoglobin JP" EXACT [] is_a: SCDO:1000082 ! Sickling Hemoglobin with Two Beta-Globin Gene Substitutions relationship: SCDO:1000210 SCDO:1000039 ! has causal or contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000210 SCDO:1000047 ! has causal or contributing genetic variation HBB, LEU68PHE property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into the HPO, below \"Abnormal Hemoglobin\"/\"Sickling Hemoglobin with Two Beta-Globin Gene Substitutions\"." xsd:string property_value: SCDO:0000340 http://www.nejm.org/doi/full/10.1056/NEJMoa040771#t=article xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000073 name: Hemoglobin S-Antilles def: "A form of hemoglobin caused by two mutations in its beta-chains, the classic beta S mutation (beta 6 Glu>Val) and beta 23 Val>Ile. Hemoglobin S-Antilles has the same electrophoretic mobility as Hemoglobin S but a distinct isoelectric focus and produces sickling in the carriers of the Hb A/S Antilles trait." [] is_a: SCDO:1000082 ! Sickling Hemoglobin with Two Beta-Globin Gene Substitutions relationship: SCDO:1000210 SCDO:1000039 ! has causal or contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000210 SCDO:1000045 ! has causal or contributing genetic variation HBB, VAL23ILE property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into the HPO, below \"Abnormal Hemoglobin\"/\"Sickling Hemoglobin with Two Beta-Globin Gene Substitutions\"." xsd:string property_value: SCDO:0000340 "0244" property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000074 name: Hemoglobin S-Oman def: "A form of hemoglobin caused by two mutations in a beta-globin chain, the classic beta S mutation (beta6 Glu> Val) and a beta121 Glu > Lys mutation identical to that of Hb-O Arab. The hemoglobin variant has reduced solubility and there is an apparent increase in red cell sickling tendency. It is reported to cause a rare dominant form of sickle cell disease, Sickle Cell Disease A/S-Oman." [] synonym: "Hb S-Oman" EXACT [] synonym: "Hemoglobin S (Oman)" EXACT [] is_a: SCDO:1000082 ! Sickling Hemoglobin with Two Beta-Globin Gene Substitutions relationship: SCDO:1000210 SCDO:1000039 ! has causal or contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000210 SCDO:1000040 ! has causal or contributing genetic variation HBB, GLU121LYS property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into the HPO, below \"Abnormal Hemoglobin\"/\"Sickling Hemoglobin with Two Beta-Globin Gene Substitutions\"." xsd:string property_value: SCDO:0000340 "0245" property_value: SCDO:0000340 "Nagel, R.L., Daar, S., Romero, J.R., Suzuka, S.M., Gravell, D., Bouhassira, E., Schwartz, R.S., Fabry, M.E. and Krishnamoorthy, R., 1998. HbS-Oman heterozygote: a new dominant sickle syndrome. Blood, 92(11), pp.4375-4382." xsd:string property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:1000075 name: Hemoglobin Genotype A/S-Oman def: "Dominant heterozygosity for the double HBB Glu6Val and Glu121Lys mutation." [] synonym: "A/S-Oman Genotype" EXACT [] synonym: "A/S-Oman Haemoglobin Genotype" EXACT [] synonym: "A/S-Oman Hemoglobin Genotype" EXACT [] synonym: "Haemoglobin Genotype A/S-Oman" EXACT [] is_a: SCDO:1000048 ! SCD Genotype relationship: RO:0003303 SCDO:1000165 ! causes condition Sickle Cell Disease A/S-Oman relationship: SCDO:1000196 SCDO:1000039 ! has contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000196 SCDO:1000040 ! has contributing genetic variation HBB, GLU121LYS relationship: SCDO:1000222 SCDO:1000074 ! causes molecular phenotype Hemoglobin S-Oman property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 https://www.sciencedirect.com/science/article/pii/S014067361061029X property_value: SCDO:0000340 "PMID: 9834244" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000076 name: Mild Sickle Cell Disease-S Beta Minus Thalassemia def: "A form of sickle cell thalassemia, with a mild clinical phenotype, characterized by the presence of hemoglobin S and a small amount of hemoglobin A in the red blood cells." [] synonym: "Mild Sickle Cell Disease-S Beta Minus Thalassaemia" EXACT [] synonym: "Mild Sickle Cell-Beta Minus Thalassaemia" EXACT [] synonym: "Mild Sickle Cell-Beta Minus Thalassemia" EXACT [] is_a: SCDO:0001056 ! Sickle Cell Disease-S Beta Minus Thalassemia relationship: SCDO:1000210 SCDO:0001765 ! has causal or contributing genetic variation Beta-Minus Thalassemia Mutation relationship: SCDO:1000210 SCDO:1000039 ! has causal or contributing genetic variation HBB, GLU6VAL property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Clair Ingram)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C98837 property_value: SCDO:0000340 "Rees, D.C., Williams, T.N. and Gladwin, M.T., 2010. Sickle-cell disease. The Lancet, 376(9757), pp.2018-2031." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000077 name: Moderate Sickle Cell Disease-S Beta Minus Thalassemia def: "A form of sickle cell thalassemia, with a moderate clinical phenotype, characterized by the presence of hemoglobin S and a small amount of hemoglobin A in the red blood cells." [] synonym: "Moderate Sickle Cell Disease-S Beta Minus Thalassaemia" EXACT [] synonym: "Moderate Sickle Cell-Beta Minus Thalassaemia" EXACT [] synonym: "Moderate Sickle Cell-Beta Minus Thalassemia" EXACT [] is_a: SCDO:0001056 ! Sickle Cell Disease-S Beta Minus Thalassemia relationship: SCDO:0000664 SCDO:0000147 ! treated with Blood Transfusion relationship: SCDO:0000664 SCDO:0000506 ! treated with Hematopoietic Stem Cell Transplantation relationship: SCDO:1000210 SCDO:0001765 ! has causal or contributing genetic variation Beta-Minus Thalassemia Mutation relationship: SCDO:1000210 SCDO:1000039 ! has causal or contributing genetic variation HBB, GLU6VAL property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Clair Ingram)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C98837 property_value: SCDO:0000340 "Rees, D.C., Williams, T.N. and Gladwin, M.T., 2010. Sickle-cell disease. The Lancet, 376(9757), pp.2018-2031." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000078 name: Severe Sickle Cell Disease-S Beta Minus Thalassemia def: "A form of sickle cell thalassemia, with a severe clinical phenotype, characterized by the presence of hemoglobin S and a small amount of hemoglobin A in the red blood cells." [] synonym: "Severe Sickle Cell Disease-S Beta Minus Thalassaemia" EXACT [] synonym: "Severe Sickle Cell-Beta Minus Thalassaemia" EXACT [] synonym: "Severe Sickle Cell-Beta Minus Thalassemia" EXACT [] is_a: SCDO:0001056 ! Sickle Cell Disease-S Beta Minus Thalassemia relationship: SCDO:0000664 SCDO:0000147 ! treated with Blood Transfusion relationship: SCDO:0000664 SCDO:0000506 ! treated with Hematopoietic Stem Cell Transplantation relationship: SCDO:1000210 SCDO:0001765 ! has causal or contributing genetic variation Beta-Minus Thalassemia Mutation relationship: SCDO:1000210 SCDO:1000039 ! has causal or contributing genetic variation HBB, GLU6VAL property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Clair Ingram)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C98837 property_value: SCDO:0000340 "Rees, D.C., Williams, T.N. and Gladwin, M.T., 2010. Sickle-cell disease. The Lancet, 376(9757), pp.2018-2031." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000079 name: deprecated Moderate S/Beta-Plus-Thal def: "'Genotype where a person is a compound heterozygote for the hemoglobin S mutation and a moderate beta plus thalassemia mutation. Source: CLAIR [Curator team: []]'" [] synonym: "Moderate S/Beta-Plus-Thalassaemia" EXACT [] is_a: SCDO:1000091 ! deprecated Sickle beta plus thalassemia property_value: SCDO:0000340 "Rees, D.C., Williams, T.N. and Gladwin, M.T., 2010. Sickle-cell disease. The Lancet, 376(9757), pp.2018-2031." xsd:string is_obsolete: true replaced_by: SCDO:1000077 [Term] id: SCDO:1000080 name: deprecated Mild S/Beta-Plus-Thal def: "'Not described [Curator team: []]'" [] synonym: "Mild S/Beta-Plus-Thalassaemia" EXACT [] is_a: SCDO:1000091 ! deprecated Sickle beta plus thalassemia is_obsolete: true replaced_by: SCDO:1000076 [Term] id: SCDO:1000081 name: Hemoglobin Genotype C/S Antilles def: "Compound heterozygosity for the hemoglobin C (HBB Glu6Lys) mutation and the double HBB Glu6Val, Val23Ile mutation of hemoglobin S-Antilles." [] synonym: "beta6Glu>Lys/beta6Glu>Val, beta23Val>Ile" EXACT [] synonym: "C/S Antilles Genotype" EXACT [] synonym: "C/S Antilles Haemoglobin Genotype" EXACT [] synonym: "C/S Antilles Hemoglobin Genotype" EXACT [] synonym: "Haemoglobin Genotype C/S Antilles" EXACT [] is_a: SCDO:1000048 ! SCD Genotype relationship: RO:0003303 SCDO:1000166 ! causes condition Sickle Cell Disease C/S Antilles relationship: SCDO:1000196 SCDO:1000039 ! has contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000196 SCDO:1000041 ! has contributing genetic variation HBB, GLU6LYS relationship: SCDO:1000196 SCDO:1000045 ! has contributing genetic variation HBB, VAL23ILE relationship: SCDO:1000222 SCDO:0000513 ! causes molecular phenotype Hemoglobin C relationship: SCDO:1000222 SCDO:1000073 ! causes molecular phenotype Hemoglobin S-Antilles property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "DOI: 10.1016/S0140-6736(10)61029-X" xsd:string property_value: SCDO:0000340 "PMID: 21131035" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000082 name: Sickling Hemoglobin with Two Beta-Globin Gene Substitutions def: "A hemoglobin that sickles due to the presence of two beta-globin gene mutations within the same HBB gene." [] synonym: "Doubly Substituted Sickling Hemoglobin" EXACT [] is_a: SCDO:0000007 ! Abnormal Hemoglobin in SCD is_a: SCDO:0003807 ! Abnormal Hemoglobin property_value: http://purl.org/dc/elements/1.1/source "0245" property_value: http://purl.org/dc/elements/1.1/source https://www.nejm.org/doi/full/10.1056/NEJMoa040771 property_value: http://purl.org/dc/elements/1.1/source "v=onepage&q=HbA%2FJamaica%20Plain&f=false" property_value: SCDO:0000303 "Request inclusion into the HPO, below \"Abnormal Hemoglobin\"." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000083 name: Hemoglobin S-South End def: "An abnormal hemoglobin in which two mutations occurring in its beta-chains results in the sickling of red blood cells containing this hemoglobin. The sickling is the result of the mutation in which glutamic acid in position 6 is replaced by valine, which is not counteracted by the second mutation, in which the lysine in position 132 is replaced by asparagine." [] is_a: SCDO:1000082 ! Sickling Hemoglobin with Two Beta-Globin Gene Substitutions relationship: SCDO:1000210 SCDO:1000039 ! has causal or contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000210 SCDO:1000087 ! has causal or contributing genetic variation HBB, LYS132ASN property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into the HPO, below \"Abnormal Hemoglobin\"/\"Sickling Hemoglobin with Two Beta-Globin Gene Substitutions\"." xsd:string property_value: SCDO:0000340 "Luo, H.Y., Adewoye, A.H., Eung, S.H., Skelton, T.P., Quillen, K., McMahon, L., Steinberg, M.H. and Chui, D.H., 2004. A novel sickle hemoglobin: Hemoglobin S-South End. Journal of pediatric hematology/oncology, 26(11), pp.773-776." xsd:string property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:1000084 name: Hemoglobin Genotype S/Quebec-Chori def: "A compound heterozygous genotype, involving the mutations for Hemoglobin S and Hemoglobin Quebec Chori, which shows an electrophoretic pattern similar to that of the Hb A/S Genotype, but shows sickling." [] synonym: "beta6Glu>Val/beta87Thr>Ile" EXACT [] synonym: "Haemoglobin Genotype S/Quebec-Chori" EXACT [] synonym: "S/Quebec-Chori Genotype" EXACT [] is_a: SCDO:1000048 ! SCD Genotype relationship: RO:0003303 SCDO:1000086 ! causes condition Sickle Cell Disease-S/Quebec Chori relationship: SCDO:1000196 SCDO:1000039 ! has contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000196 SCDO:1000046 ! has contributing genetic variation HBB, THR87ILE relationship: SCDO:1000222 SCDO:0000514 ! causes molecular phenotype Hemoglobin S relationship: SCDO:1000222 SCDO:1000085 ! causes molecular phenotype Hemoglobin Quebec Chori property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "Pediatr Blood Cancer. 2007 Aug;49(2):207-10." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000085 name: Hemoglobin Quebec Chori def: "An abnormal hemoglobin in which a threonine is replaced by an isoleucine residue at the eighty-seventh position of beta chains. It migrates like HbA but promotes sickling." [] synonym: "Hb Quebec-Chori" EXACT [] xref: MESH:C070823 is_a: SCDO:0000007 ! Abnormal Hemoglobin in SCD is_a: SCDO:0003807 ! Abnormal Hemoglobin relationship: SCDO:1000210 SCDO:1000046 ! has causal or contributing genetic variation HBB, THR87ILE property_value: http://purl.org/dc/elements/1.1/source http://ac.els-cdn.com/S014067361061029X/1-s2.0-S014067361061029X-main.pdf?_tid=691c25c0-5826-11e7-b704-00000aacb35e&acdnat=1498230953_4d1264c47385275daf8fc2a1e1de62e3 xsd:string property_value: http://purl.org/dc/elements/1.1/source http://purl.bioontology.org/ontology/MESH/C070823 property_value: SCDO:0000303 "Suggest update to description in MESH (the term in MESH doesn't currently have a description).\nAlso request inclusion in the HPO, below \"Abnormal Hemoglobin\", for the sake of completion." xsd:string property_value: SCDO:0000340 https://allaboutblood.com/2012/05/14/sickle-haemoglobin-and-varients/ property_value: SCDO:0000340 "Witkowska, H.E., Lubin, B.H., Beuzard, Y., Baruchel, S., Esseltine, D.W., Vichinsky, E.P. et al. Sickle cell disease in a patient with sickle cell trait and compound heterozygosity for hemoglobin S and hemoglobin Quebec-Chori. N Engl J Med. 1991; 325: 1150–1154" xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:1000086 name: Sickle Cell Disease-S/Quebec Chori def: "A severe compound heterozygous sickling disorder characterized by the presence of both hemoglobin S and hemoglobin Quebec Chori." [] synonym: "Sickle Cell-Hemoglobin Quebec Chori Disease" EXACT [] is_a: SCDO:1000163 ! Compound Heterozygous Sickle Cell Disease relationship: SCDO:0000663 CHMO:0001009 ! diagnosed using tool High-Performance Liquid Chromatography relationship: SCDO:0000663 NCIT:C15709 ! diagnosed using tool Genetic Testing relationship: SCDO:0001364 SCDO:1000243 ! has mode of inheritance Autosomal Recessive Compound Heterozygous relationship: SCDO:1000172 SCDO:1000084 ! has causal genotype Hemoglobin Genotype S/Quebec-Chori relationship: SCDO:1000210 SCDO:1000039 ! has causal or contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000210 SCDO:1000046 ! has causal or contributing genetic variation HBB, THR87ILE relationship: SCDO:1000223 SCDO:0000514 ! has causal molecular phenotype Hemoglobin S relationship: SCDO:1000223 SCDO:1000085 ! has causal molecular phenotype Hemoglobin Quebec Chori property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 https://www.ncbi.nlm.nih.gov/pubmed/17551985 property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000087 name: HBB, LYS132ASN def: "A mutation where the lysine residue in position 132 in the primary sequence of a beta-chain produced by the HBB gene is replaced by asparagine. This mutation on its own produces Hb Yamagata which has reduced oxygen affinity, but no distinctive clinical abnormalities. However, when present in the same gene as the Hb S mutation (HBB, GLU6VAL), the sickling HbS-South End is produced." [] synonym: "Contributing Beta S-South End Mutation" EXACT [] synonym: "Contributing Hb S-South End Mutation" EXACT [] synonym: "Hb Yamagata Mutation" EXACT [] synonym: "LYS132ASN" EXACT [] is_a: SCDO:0009786 ! Other HBB Variants relationship: RO:0003302 SCDO:1000090 ! causes or contributes to condition Sickle Cell Disease-S/S-South End relationship: SCDO:1000184 SCDO:1000088 ! contributes to genotype Hemoglobin Genotype S/S-South End relationship: SCDO:1000217 SCDO:1000083 ! causes or contributes to molecular phenotype Hemoglobin S-South End property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "0302" property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:1000088 name: Hemoglobin Genotype S/S-South End def: "A compound heterozygous genotype, involving the mutations for hemoglobin S and hemoglobin S-South End." [] synonym: "beta Glu6Val, GAG>GTG/beta Glu6Val, GAG>GTG; beta Lys132Asn, AAA>AAC" EXACT [] synonym: "beta6Glu>Val/beta132Lys>Asn" EXACT [] synonym: "Haemoglobin Genotype S/S-South End" EXACT [] synonym: "S/S-South End Genotype" EXACT [] is_a: SCDO:1000048 ! SCD Genotype relationship: RO:0003303 SCDO:1000090 ! causes condition Sickle Cell Disease-S/S-South End relationship: SCDO:1000196 SCDO:1000039 ! has contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000196 SCDO:1000087 ! has contributing genetic variation HBB, LYS132ASN relationship: SCDO:1000222 SCDO:0000514 ! causes molecular phenotype Hemoglobin S relationship: SCDO:1000222 SCDO:1000083 ! causes molecular phenotype Hemoglobin S-South End property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 https://www.ncbi.nlm.nih.gov/pubmed/15543018 property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000089 name: Hemoglobin Lepore Boston def: "The most common Hemoglobin Lepore type and the only type of the three known variants described in association with HbS. This abnormal hemoglobin consists of two normal alpha globin chains (HBA) and two deltabeta globin fusion chains which occur due to a crossover between the delta (HBD) and beta globin (HBB) gene loci during meiosis." [] synonym: "Hb Lepore Boston-Washington" EXACT [] synonym: "Hb Lepore-B-W" EXACT [] synonym: "Hb Lepore-Boston-Washington" EXACT [] synonym: "Hb Lepore-Washington-Boston" EXACT [] synonym: "Hb Lepore-WB" EXACT [] synonym: "Hemoglobin Lepore Boston-Washington" EXACT [] synonym: "Hemoglobin Lepore-Boston-Washington" EXACT [] is_a: SCDO:0000007 ! Abnormal Hemoglobin in SCD is_a: SCDO:0003807 ! Abnormal Hemoglobin property_value: SCDO:0000303 "Suggest inclusion in the HPO, below \"Abnormal Hemoglobin\".\n\nHb Lepore is produced at a reduced rate and this is why the disease is related to the Β-thalassemic syndromes.\n\nQuantity in heterozygotes 7-13%; found in combination with Hb S, Hb C, beta+-thal, and in the homozygous state.\n\nThe most common Hb Lepore type; found mainly in Italian families; it has also been observed in families from Rumania, Yugoslavia, Turkey, Cyprus, Jamaica, Cuba, Greece, England, Australia, Mexico, etc" xsd:string property_value: SCDO:0000340 http://en.wikipedia.org/wiki/Hemoglobin_Lepore_syndrome#Homozygous_Hb_Lepore xsd:string property_value: SCDO:0000340 http://globin.cse.psu.edu/html/huisman/variants/hybrid/Lepore-Boston-Washington.html xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000090 name: Sickle Cell Disease-S/S-South End def: "A rare, reported severe, type of sickle cell disease with the compound heterozygous genotype involving the mutations for Hemoglobin S and Hemoglobin S-South End." [] synonym: "Sickle Cell-Hemoglobin S-South End Disease" EXACT [] is_a: SCDO:0008262 ! Structural Hemoglobinopathy is_a: SCDO:1000163 ! Compound Heterozygous Sickle Cell Disease relationship: SCDO:0000663 NCIT:C15709 ! diagnosed using tool Genetic Testing relationship: SCDO:0000663 SCDO:0000547 ! diagnosed using tool Hemoglobin Profile Assay relationship: SCDO:0001364 SCDO:1000243 ! has mode of inheritance Autosomal Recessive Compound Heterozygous relationship: SCDO:1000172 SCDO:1000088 ! has causal genotype Hemoglobin Genotype S/S-South End relationship: SCDO:1000210 SCDO:1000039 ! has causal or contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000210 SCDO:1000087 ! has causal or contributing genetic variation HBB, LYS132ASN relationship: SCDO:1000218 EUPATH:0000215 ! has manifestation Severe Anemia relationship: SCDO:1000223 SCDO:0000514 ! has causal molecular phenotype Hemoglobin S relationship: SCDO:1000223 SCDO:1000083 ! has causal molecular phenotype Hemoglobin S-South End property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Clair Ingram)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "Luo, H.Y., Adewoye, A.H., Eung, S.H., Skelton, T.P., Quillen, K., McMahon, L., Steinberg, M.H. and Chui, D.H., 2004. A novel sickle hemoglobin: Hemoglobin S-South End. Journal of pediatric hematology/oncology, 26(11), pp.773-776." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000091 name: deprecated Sickle beta plus thalassemia def: "'Sb+ thalassemia is an inherited condition. Hemoglobin S comes from one parent and Beta plus thalassemia comes from the other parent. Instead of appearing round (like donuts), red blood cells are somewhat small, pale and misshapen. [Curator team: []]'" [] is_a: SCDO:0000359 ! deprecated terms is_obsolete: true replaced_by: SCDO:0001056 [Term] id: SCDO:1000092 name: deprecated-Acute Severe Headache def: "A primary headache disorder that is characterized by severe, strictly unilateral PAIN which is orbital, supraorbital, temporal or in any combination of these sites, lasting 15-180 min. occurring 1 to 8 times a day. The attacks are associated with one or more of the following, all of which are ipsilateral: conjunctival injection, lacrimation, nasal congestion, rhinorrhea, facial SWEATING, eyelid EDEMA, and miosis." [] xref: MESH:D003027 is_a: SCDO:0001336 ! from phenotype property_value: SCDO:0000303 "Ask a clinician if this is different to a cluster headache?" xsd:string property_value: SCDO:0000340 https://meshb.nlm.nih.gov/record/ui?ui=D003027 xsd:string is_obsolete: true replaced_by: SCDO:0001288 [Term] id: SCDO:1000093 name: Adverse Event (AE) def: "A medically undesirable event occurring in a research subject, such as an abnormal sign, symptom, worsening of a disease, injury, etc. A serious adverse event (SAE) results in death, hospitalization (or increased hospital stay), persistent disability, birth defect, or any other outcome that seriously jeopardizes the subject's health." [] synonym: "Adverse Reaction" EXACT [] xref: OAE:0000001 is_a: SCDO:0000391 ! Disease Modifier property_value: SCDO:0000340 OAE:0000001 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000093 xsd:string [Term] id: SCDO:1000094 name: Research Benefit def: "A desirable research outcome or state of affairs, such as medical treatment, clinically useful information, or self-esteem. In the oversight of human subjects research, money is usually not treated as a benefit." [] is_a: SCDO:0300005 ! Research Characteristics property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "Shamoo AE and Resnik DB, Responsible Conduct of Research, 3rd ed. (New York: Oxford University Press, 2015)." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000095 name: Conflict of Interest def: "A situation in which an individual or their close associates might benefit personally from official or professional actions. It includes a conflict between a person's private interests and official responsibilities in a position of trust.The concept refers both to actual conflict of interest and the appearance or perception of conflict." [] synonym: "Interest Conflict" EXACT [] xref: MESH:D016265 is_a: SCDO:0300005 ! Research Characteristics is_a: SCDO:1000430 ! Ethics Related Concept property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D016265 xsd:string property_value: SCDO:1000288 "Few but definitions not specific enough" xsd:string [Term] id: SCDO:1000097 name: Human Subject def: "An homo sapiens that bears an experimental subject role which is realized through his/her participation in a scientific technique as the subject of interest (ie as the subject about which data is generated in an assay or study, or the entity that is transformed or modified in a material processing technique)." [] xref: ERO:0001964 is_a: SCDO:0300005 ! Research Characteristics property_value: SCDO:0000340 ERO:0001964 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000097 xsd:string [Term] id: SCDO:1000098 name: Case Report Form (CRF) def: "A paper or electronic questionnaire specifically used in research by the sponsor of the research to collect data from each research participant. All data on each participant in the study are held and/or documented in the CRF, including adverse events." [] is_a: SCDO:0300003 ! Publication Formats property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology, perhaps as parent of \"electronic case report form\" in the Ontology for Biomedical Investigations (OBI)" xsd:string property_value: SCDO:0000340 "Debbie Kennedy, CRF Designer, Canary Publications, ISBN 0-9531174-7-2" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000099 name: Modifier Gene def: "Genes with alleles that affect the phenotype associated with a nonallelic gene." [] synonym: "Gene, Modifier" EXACT [] xref: MESH:D060045 is_a: SCDO:0000444 ! Genetic Disease Modifier property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D060045 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000099 xsd:string [Term] id: SCDO:1000100 name: ICD-10-CM Code Type def: "The type of ICD-10-CM code, in terms of a code's usability for reimbursement purposes." [] is_a: SCDO:0000245 ! Clinical Coding property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000103 name: Genetic Locus def: "A specific region that is mapped within a genome. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or hereditary disease." [] synonym: "Genetic Loci" EXACT [] synonym: "Loci, Genetic" EXACT [] synonym: "Locus, Genetic" EXACT [] xref: MESH:D056426 is_a: SCDO:0005722 ! Genetic Structure property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D056426 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000103 xsd:string [Term] id: SCDO:1000104 name: Hemoglobin Subunits def: "The protein subunits that comprise multimeric hemoglobins." [] xref: MESH:D055554 is_a: NCIT:C26548 ! Gene Product property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D055554 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000104 xsd:string [Term] id: SCDO:1000105 name: Alpha-Globin Family Members def: "Members of the alpha-globin family. In humans, they are encoded in a gene cluster on chromosome 16. They include hemoglobin subunit zeta and hemoglobin subunit alpha. There are also pseudogenes of zeta (theta-zeta) and alpha (theta-alpha) in the cluster. Adult hemoglobin is comprised of 2 alpha-globin chains and 2 beta-globin chains." [] synonym: "Alpha-Globins" EXACT [] xref: MESH:D055542 is_a: SCDO:0005339 ! Globin Phenotype is_a: SCDO:1000104 ! Hemoglobin Subunits property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D055542 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000105 xsd:string [Term] id: SCDO:1000106 name: Sickle Cell Disease def: "Sickle cell disease (SCD) is a pleiotropic inherited disorder of the blood, characterised by the appearance of sickle-shaped red blood cells and anemia. It results from homozygosity for the sickle beta-globin gene mutation at position 6 (glu > val), or compound heterozygosity for the sickle gene and either another mutation for a different hemoglobin variant or one of numerous beta-thalassemia\n mutations." [] synonym: "Banana Cell Disease" EXACT [] synonym: "Drepanocytosis" EXACT [] synonym: "SCD" EXACT [] synonym: "Sickle Cell Disorder" EXACT [] synonym: "Sickle Cell Hemoglobinopathy" EXACT [] synonym: "Sickle Hemoglobinopathy" EXACT [] synonym: "Sickle-Cell Disorder" EXACT [] is_a: SCDO:0000552 ! Hemoglobinopathy relationship: SCDO:0000469 SCDO:0000311 ! has clinical code D57 Sickle-Cell Disorders relationship: SCDO:1000210 SCDO:0009786 ! has causal or contributing genetic variation Other HBB Variants relationship: SCDO:1000210 SCDO:1000039 ! has causal or contributing genetic variation HBB, GLU6VAL property_value: http://purl.org/dc/elements/1.1/source https://en.wikipedia.org/wiki/Sickle_cell_disease property_value: SCDO:0000303 "Suggest update to description in NCIT.\n\nSickle cell diseases include inheritance of the gene for sickle hemoglobin from one parent and one of the following:\nA gene for sickle hemoglobin from the other parent (Hb SS),\nA gene for another abnormal hemoglobin from the other parent (Hb SC, HbSD Punjab, HbSO Arab, HbS Leopore, or Hb SE),\nA gene that limits hemoglobin production from the other parent (sickle beta +/0 thalassemia). In S beta (+) thalassemia there is some production of beta globin, and in S beta (0) thalassemia there is no production of beta globin." xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C34383 property_value: SCDO:0000340 https://www.ncbi.nlm.nih.gov/pubmed/19902523 property_value: SCDO:1000288 "Few but definitions not specific enough" xsd:string [Term] id: SCDO:1000107 name: Hemoglobin Genotype S/Beta Thalassemia def: "The combination of the hemoglobin S mutation (beta6Glu>Val) and a beta-thalassemia mutation." [] synonym: "Hemoglobin Genotype S/Beta Thalassaemia" EXACT [] synonym: "S/Beta -Thal Genotype" EXACT [] synonym: "S/Beta -Thalassaemia Genotype" EXACT [] is_a: SCDO:1000048 ! SCD Genotype relationship: RO:0003303 NCIT:C95539 ! causes condition Sickle Beta Thalassemia relationship: SCDO:1000196 SCDO:0007624 ! has contributing genetic variation Beta Thalassemia Genotype relationship: SCDO:1000196 SCDO:1000039 ! has contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000222 SCDO:0000514 ! causes molecular phenotype Hemoglobin S relationship: SCDO:1000222 SCDO:1000240 ! causes molecular phenotype Reduced or Absent Hemoglobin A property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4459467/ property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000108 name: HBB, SER9TYR def: "A mutation where the serine in position 9 in the primary sequence of a beta-chain produced by the HBB gene is replaced by tyrosine. This mutation is one of 2 amino acid substitutions in the same beta chain that produces the asymptomatic Hemoglobin D-Agri, the other mutation being HBB, GLU121GLN, which on its own produces Hemoglobin D-Punjab." [] synonym: "Beta D-Agri Mutation" EXACT [] is_a: SCDO:0002305 ! Hemoglobin D Disease Causal Mutation relationship: SCDO:1000184 SCDO:1000054 ! contributes to genotype Hemoglobin Genotype SD relationship: SCDO:1000184 SCDO:1000226 ! contributes to genotype Hemoglobin Genotype AD relationship: SCDO:1000184 SCDO:1000230 ! contributes to genotype Hemoglobin Genotype DD relationship: SCDO:1000217 SCDO:1000007 ! causes or contributes to molecular phenotype Hemoglobin D property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source "0502" property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:1000109 name: HBB, GLU121GLN def: "A mutation where the glutamic acid in position 121 in the primary sequence of a beta-chain produced by the HBB gene is replaced by glutamine." [] comment: Derived from a point mutation in the beta-globin gene (HBB: c.364G>C; rs33946267). synonym: "Beta 121Glu>Gln" EXACT [] synonym: "Beta D-Punjab Mutation" EXACT [] is_a: SCDO:0002305 ! Hemoglobin D Disease Causal Mutation is_a: SCDO:0009786 ! Other HBB Variants relationship: RO:0003302 SCDO:0001061 ! causes or contributes to condition Sickle Cell Disease-S/D-Punjab relationship: RO:0003302 SCDO:1000059 ! causes or contributes to condition Hemoglobin D-Punjab Trait relationship: SCDO:1000184 SCDO:1000050 ! contributes to genotype Hemoglobin Genotype S/D-Punjab relationship: SCDO:1000184 SCDO:1000054 ! contributes to genotype Hemoglobin Genotype SD relationship: SCDO:1000184 SCDO:1000226 ! contributes to genotype Hemoglobin Genotype AD relationship: SCDO:1000184 SCDO:1000230 ! contributes to genotype Hemoglobin Genotype DD relationship: SCDO:1000217 SCDO:0000528 ! causes or contributes to molecular phenotype Hemoglobin D-Punjab property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source "0065" property_value: http://purl.org/dc/elements/1.1/source https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382585/ property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:1000110 name: HBB, GLY16ARG def: "A mutation where the glycine in position 16 in the primary sequence of a beta-chain produced by the HBB gene is replaced by arginine." [] synonym: "Beta D-Bushman Mutation" EXACT [] is_a: SCDO:0002305 ! Hemoglobin D Disease Causal Mutation relationship: SCDO:1000184 SCDO:1000054 ! contributes to genotype Hemoglobin Genotype SD relationship: SCDO:1000184 SCDO:1000226 ! contributes to genotype Hemoglobin Genotype AD relationship: SCDO:1000184 SCDO:1000230 ! contributes to genotype Hemoglobin Genotype DD relationship: SCDO:1000217 SCDO:1000007 ! causes or contributes to molecular phenotype Hemoglobin D property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source "0060" property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:1000111 name: HBB, ASN19LYS def: "A mutation where the asparargine acid in position 19 in the primary sequence of a beta-chain produced by the HBB gene is replaced by lysine." [] synonym: "Beta D-Ouled Rabah Mutation" EXACT [] is_a: SCDO:0002305 ! Hemoglobin D Disease Causal Mutation relationship: SCDO:1000184 SCDO:1000054 ! contributes to genotype Hemoglobin Genotype SD relationship: SCDO:1000184 SCDO:1000226 ! contributes to genotype Hemoglobin Genotype AD relationship: SCDO:1000184 SCDO:1000230 ! contributes to genotype Hemoglobin Genotype DD relationship: SCDO:1000217 SCDO:1000007 ! causes or contributes to molecular phenotype Hemoglobin D property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source "0064" property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:1000112 name: HBB, GLU22GLN def: "A mutation where the glutamic acid in position 22 in the primary sequence of a beta-chain produced by the HBB gene is replaced by glutamine." [] synonym: "Beta D-Iran Mutation" EXACT [] is_a: SCDO:0002305 ! Hemoglobin D Disease Causal Mutation relationship: SCDO:1000184 SCDO:1000054 ! contributes to genotype Hemoglobin Genotype SD relationship: SCDO:1000184 SCDO:1000226 ! contributes to genotype Hemoglobin Genotype AD relationship: SCDO:1000184 SCDO:1000230 ! contributes to genotype Hemoglobin Genotype DD relationship: SCDO:1000217 SCDO:1000007 ! causes or contributes to molecular phenotype Hemoglobin D property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source "0063" property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:1000113 name: HBB, GLU22VAL def: "A mutation where the glutamic acid in position 22 in the primary sequence of a beta-chain produced by the HBB gene is replaced by valine." [] synonym: "Beta D-Granada Mutation" EXACT [] is_a: SCDO:0002305 ! Hemoglobin D Disease Causal Mutation relationship: SCDO:1000184 SCDO:1000054 ! contributes to genotype Hemoglobin Genotype SD relationship: SCDO:1000184 SCDO:1000226 ! contributes to genotype Hemoglobin Genotype AD relationship: SCDO:1000184 SCDO:1000230 ! contributes to genotype Hemoglobin Genotype DD relationship: SCDO:1000217 SCDO:1000007 ! causes or contributes to molecular phenotype Hemoglobin D property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source "0061" property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:1000114 name: HBB, THR87LYS def: "A mutation where the threonine in position 87 in the primary sequence of a beta-chain produced by the HBB gene is replaced by lysine." [] synonym: "Beta D-Ibadan Mutation" EXACT [] is_a: SCDO:0002305 ! Hemoglobin D Disease Causal Mutation relationship: SCDO:1000184 SCDO:1000054 ! contributes to genotype Hemoglobin Genotype SD relationship: SCDO:1000184 SCDO:1000226 ! contributes to genotype Hemoglobin Genotype AD relationship: SCDO:1000184 SCDO:1000230 ! contributes to genotype Hemoglobin Genotype DD relationship: SCDO:1000217 SCDO:1000007 ! causes or contributes to molecular phenotype Hemoglobin D property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source "0062" property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:1000115 name: HBB, GLU121ALA def: "A mutation where the glutamic acid in position 121 in the primary sequence of a beta-chain produced by the HBB gene is replaced by alanine." [] synonym: "Beta D-Neath Mutation" EXACT [] is_a: SCDO:0002305 ! Hemoglobin D Disease Causal Mutation relationship: SCDO:1000184 SCDO:1000054 ! contributes to genotype Hemoglobin Genotype SD relationship: SCDO:1000184 SCDO:1000226 ! contributes to genotype Hemoglobin Genotype AD relationship: SCDO:1000184 SCDO:1000230 ! contributes to genotype Hemoglobin Genotype DD relationship: SCDO:1000217 SCDO:1000007 ! causes or contributes to molecular phenotype Hemoglobin D property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source "0445" property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:1000116 name: Adja def: "The Adja ethnic group are mostly farmers and live in the southern part of Benin Republic. They make up 15% of the general country population. This group of people migrated into Benin between the 12th and 13th centuries from River Mono. The primary language is Aja-Gbe with a majority of the people being trilingual." [] synonym: "Adja Ethnic Group" EXACT [] is_a: NCIT:C16564 ! Ethnic Group property_value: http://purl.org/dc/elements/1.1/source "Demographic and Health Surveys Program (2011-2012)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology, possibly below \"Ethnic Group\" in NCIT?" xsd:string property_value: SCDO:0000340 https://www.worldatlas.com/articles/major-ethnic-groups-of-benin.html property_value: SCDO:1000288 "Negigable" xsd:string [Term] id: SCDO:1000117 name: Bariba def: "Bariba is the ethnic group dominating the northern side of Benin, who constitute 9% of the population. They are the first inhabitants of Benin and are concentrated in the capital city, Nikki. One of their leading practices is horse riding, which is a practice that has been enjoyed from generation to generation. With agriculture being their dominant occupation, Bariba people have a diverse range of produce such as corn, rice and palm oil." [] synonym: "Bariba Ethnic Group" EXACT [] is_a: NCIT:C16564 ! Ethnic Group property_value: http://purl.org/dc/elements/1.1/source "Demographic and Health Surveys Program (2011-2012)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology, possibly below \"Ethnic Group\" in NCIT?" xsd:string property_value: SCDO:0000340 https://www.worldatlas.com/articles/major-ethnic-groups-of-benin.html property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:1000118 name: Dendi synonym: "Dendi Ethnic Group" EXACT [] is_a: NCIT:C16564 ! Ethnic Group property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:1000119 name: Fon def: "The largest ethnic group in Benin is Fon/Dahomey which constitutes 39% of the total population. Established in 1600 by the Fon, a group that came about through the intermarriage between the Adja and local Gedevi." [] synonym: "Fon Ethnic Group" EXACT [] is_a: NCIT:C16564 ! Ethnic Group property_value: http://purl.org/dc/elements/1.1/source "Demographic and Health Surveys Program (2011-2012)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology, possibly below \"Ethnic Group\" in NCIT?" xsd:string property_value: SCDO:0000340 https://www.worldatlas.com/articles/major-ethnic-groups-of-benin.html property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000120 name: Yoa synonym: "Yoa Ethnic Group" EXACT [] is_a: NCIT:C16564 ! Ethnic Group property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000121 name: Betamaribe synonym: "Betamaribe Ethnic Group" EXACT [] is_a: NCIT:C16564 ! Ethnic Group property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000122 name: Embu def: "The Embu are a Bantu-speaking people who are closely related to the Gikuyu of Ndia and Gicugu to the west, the Mbeere and the Kamba to the southeast, and the Chuka and the Meru to the north in Kenya." [] synonym: "Embu Ethnic Group" EXACT [] is_a: NCIT:C16564 ! Ethnic Group property_value: http://purl.org/dc/elements/1.1/source "Demographic and Health Surveys Program (2015)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology, possibly below \"Ethnic Group\" in NCIT?" xsd:string property_value: SCDO:0000340 https://www.encyclopedia.com/humanities/encyclopedias-almanacs-transcripts-and-maps/embu-0 property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:1000123 name: Kalenjin def: "The Kalenjin ethnic group are one of the five largest ethnic groups in Kenya. They are a Nilotic ethnic group and they are mainly farmers." [] synonym: "Kalenjin Ethnic Group" EXACT [] is_a: NCIT:C16564 ! Ethnic Group property_value: http://purl.org/dc/elements/1.1/source "Demographic and Health Surveys Program (2015)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology, possibly below \"Ethnic Group\" in NCIT?" xsd:string property_value: SCDO:0000340 https://www.africa.upenn.edu/NEH/kethnic.htm property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000124 name: Kamba def: "The Kamba ethnic group, also known as Akamba is one of the five largest ethnic groups in Kenya. They are Bantu-speaking people and primarily agriculturists." [] synonym: "Kamba Ethnic Group" EXACT [] is_a: NCIT:C16564 ! Ethnic Group property_value: http://purl.org/dc/elements/1.1/source "Demographic and Health Surveys Program (2015)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology, possibly below \"Ethnic Group\" in NCIT?" xsd:string property_value: SCDO:0000340 https://www.africa.upenn.edu/NEH/kethnic.htm property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000125 name: Kikuyu def: "The Kikuyu are the largest single ethnic tribe in Kenya, making up 22% of the country's population. It is believed that the Kikuyu people migrated from Lake Chad to East Africa in 1000 AD, settling in the fertile central highlands of Kenya and engaging in farming." [] synonym: "Kikuyu Ethnic Group" EXACT [] is_a: NCIT:C16564 ! Ethnic Group property_value: http://purl.org/dc/elements/1.1/source "Demographic and Health Surveys Program (2015)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology, possibly below \"Ethnic Group\" in NCIT?" xsd:string property_value: SCDO:0000340 https://www.worldatlas.com/articles/who-are-the-kikuyu.html property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000126 name: Kisii def: "The Kisii tribe (also known as the Gusii tribe) is a Bantu ethnic group who occupy the Kisii highlands in Nyanza, Western Kenya. The Kisiis constitute the sixth largest ethnic group, comprising about seven percent of the national population. Kisii, which is their ethnic language, is also traditionally known as Ekegusii." [] synonym: "Gusii" EXACT [] synonym: "Kisii Ethnic Group" EXACT [] is_a: NCIT:C16564 ! Ethnic Group property_value: http://purl.org/dc/elements/1.1/source "Demographic and Health Surveys Program (2015)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology, possibly below \"Ethnic Group\" in NCIT?" xsd:string property_value: SCDO:0000340 http://www.kenya-information-guide.com/kisii-tribe.html property_value: SCDO:1000288 "Few but definitions not specific enough" xsd:string [Term] id: SCDO:1000127 name: Luhya def: "The Luhya ethnic group, also known as the Abaluhya, Baluhya, or Abaluyia, is a Bantu tribe living in Kenya's agriculturally fertile western region. They are the second largest tribe in Kenya and neighbors to some of the Nilotic tribes, including the Luo, Kalenjin, Maasai and Teso (Iteso)." [] synonym: "Luhya Ethnic Group" EXACT [] is_a: NCIT:C16564 ! Ethnic Group property_value: http://purl.org/dc/elements/1.1/source "Demographic and Health Surveys Program (2015)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology, possibly below \"Ethnic Group\" in NCIT?" xsd:string property_value: SCDO:0000340 http://www.kenya-information-guide.com/luhya-tribe.html property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000128 name: Luo def: "Luo, also called Joluo or Kavirondo constitute the fourth largest ethnic group in Kenya. The Luo speak a Nilotic language of the Nilo-Saharan language family." [] synonym: "Luo Ethnic Group" EXACT [] is_a: NCIT:C16564 ! Ethnic Group property_value: http://purl.org/dc/elements/1.1/source "Demographic and Health Surveys Program (2015)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology, possibly below \"Ethnic Group\" in NCIT?" xsd:string property_value: SCDO:0000340 https://www.britannica.com/topic/Luo-people property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000129 name: Maasai def: "A smaller ethnic group, accounting for only about 0.7 percent of Kenya's population, with a similar number living in Tanzania. Maasais speak Maa, a Nilotic ethnic language from their origin in the Nile region of North Africa." [] synonym: "Maasai Ethnic Group" EXACT [] is_a: NCIT:C16564 ! Ethnic Group property_value: http://purl.org/dc/elements/1.1/source "Demographic and Health Surveys Program (2015)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology, possibly below \"Ethnic Group\" in NCIT?" xsd:string property_value: SCDO:0000340 http://www.kenya-information-guide.com/maasai-tribe.html property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000130 name: Peulh synonym: "Peulh Ethnic Group" EXACT [] is_a: NCIT:C16564 ! Ethnic Group property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000131 name: Yoruba def: "Yoruba is an ethnic group coming from Nigeria and well settled along the eastern boundary of Benin. They are more than 18% of the population. The majority of the Yoruba people in Benin are descendants of the Ife tribe, and the Yoruba people are predominantly of the Muslim religion." [] synonym: "Yoruba Ethnic Group" EXACT [] is_a: NCIT:C16564 ! Ethnic Group property_value: http://purl.org/dc/elements/1.1/source "Demographic and Health Surveys Program (2011-2012)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology, possibly below \"Ethnic Group\" in NCIT?" xsd:string property_value: SCDO:0000340 https://www.worldatlas.com/articles/major-ethnic-groups-of-benin.html property_value: SCDO:1000288 "Few but definitions not specific enough" xsd:string [Term] id: SCDO:1000132 name: Meru def: "The Meru tribe or Merus is a Bantu ethnic group. They reside on Mount Kenya's agriculturally rich northeastern slopes, in Kenya's Eastern Province. The name Meru refers to both the people and the location. Merus are primarily agrarian, raising a few domestic animals." [] synonym: "Meru Ethnic Group" EXACT [] is_a: NCIT:C16564 ! Ethnic Group property_value: http://purl.org/dc/elements/1.1/source "Demographic and Health Surveys Program (2015)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology, possibly below \"Ethnic Group\" in NCIT?" xsd:string property_value: SCDO:0000340 http://www.kenya-information-guide.com/meru-tribe.html property_value: SCDO:1000288 "Not relevant to context of sickle cell" xsd:string [Term] id: SCDO:1000133 name: Mijikenda/Swahili def: "The Mijikenda tribe is a Kenyan coastal Bantu tribe that consists of nine closely related sub-tribes. \"Mijikenda\" literally means nine homes or nine homesteads (in Swahili), referring to the common ancestry of the Mijikenda people. The nine Mijikenda sub-tribes are believed to be nine different homes of the same tribe. Each sub-tribe speaks its own dialect of the Mijikenda language." [] synonym: "Mijikenda" EXACT [] synonym: "Mijikenda Ethnic Group" EXACT [] is_a: NCIT:C16564 ! Ethnic Group property_value: http://purl.org/dc/elements/1.1/source "Demographic and Health Surveys Program (2015)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology, possibly below \"Ethnic Group\" in NCIT?" xsd:string property_value: SCDO:0000340 http://www.kenya-information-guide.com/mijikenda-tribe.html property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:1000134 name: Somali def: "A Cushitic speaking people comprising a small minority of Kenya's population. The Somali tend large herds of cattle, goats, sheep, and camels in the dry, arid lands of Northern Kenya. They are politically well organized and are united by both family allegiances and political treaties. The Somali also produce exquisitely carved headrests and woven artifacts." [] synonym: "Somali Ethnic Group" EXACT [] is_a: NCIT:C16564 ! Ethnic Group property_value: http://purl.org/dc/elements/1.1/source "Demographic and Health Surveys Program (2015)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology, possibly below \"Ethnic Group\" in NCIT?" xsd:string property_value: SCDO:0000340 https://www.africa.upenn.edu/NEH/kethnic.htm property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000135 name: Taita/Taveta def: "The Taita people are a Bantu tribe living in the Taita Hills on Kenya's southwest, near the Tanzania border and surrounding plains. Taita tribe actually consists of three separate but closely-related tribes: Wadawida (or Taita), Wasaghala (Sagalla) and Wataveta (Taveta)." [] synonym: "Taita/Taveta Ethnic Group" EXACT [] synonym: "Taveta Ethnic Group" EXACT [] is_a: NCIT:C16564 ! Ethnic Group property_value: http://purl.org/dc/elements/1.1/source "Demographic Health and Surveys Program (2015)" xsd:string property_value: SCDO:0000303 "Perhaps change label to \"Taveta\"?\nInclude the Wadawida (or Taita), Wasaghala (Sagalla) and Wataveta (Taveta) as sub-classes?\nRequest inclusion into relevant ontology, possibly below \"Ethnic Group\" in NCIT?" xsd:string property_value: SCDO:0000340 http://www.kenya-information-guide.com/taita-tribe.html property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:1000136 name: Borana def: "The Borana are a branch of the populous Oromo people found in southern Ethiopia and northern Kenya." [] synonym: "Borana Ethnic Group" EXACT [] is_a: NCIT:C16564 ! Ethnic Group property_value: http://purl.org/dc/elements/1.1/source "Demographic and Health Surveys Program (2015)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology, possibly below \"Ethnic Group\" in NCIT?" xsd:string property_value: SCDO:0000340 https://www.tandfonline.com/doi/pdf/10.1080/17531050701452598 property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:1000137 name: Maragoli def: "It is the second largest sub-tribe of the Luhya ethnic group in Kenya." [] synonym: "Maragoli Ethnic Group" EXACT [] is_a: NCIT:C16564 ! Ethnic Group property_value: http://purl.org/dc/elements/1.1/source "Demographic and Health Surveys Program (2015)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology, possibly below \"Ethnic Group\" in NCIT?" xsd:string property_value: SCDO:0000340 http://www.kenya-information-guide.com/luhya-tribe.html property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000138 name: Pokot def: "The Pokot are a Kalenjin-speaking people whose language incorporates words from the neighboring Karamojong and Turkana. The Pokot live in an ecologically complex region that extends from the plains of eastern Uganda across the highlands of northwestern Kenya to the plains of Lake Baringo." [] synonym: "Pokot Ethnic Group" EXACT [] is_a: NCIT:C16564 ! Ethnic Group property_value: http://purl.org/dc/elements/1.1/source "Demographic Health and Surveys Program (2015)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology, possibly below \"Ethnic Group\" in NCIT?" xsd:string property_value: SCDO:0000340 https://www.encyclopedia.com/humanities/encyclopedias-almanacs-transcripts-and-maps/pokot property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000139 name: Turkana def: "The Turkana tribe is a nomadic pastoralist people that inhabit the Turkana district in Kenya's Rift Valley Province. Turkana tribe is part of the Nilotic tribes and constitutes the second largest pastoralist community in Kenya after the Maasais. They speak the Turkana language, which is Nilotic and similar to the Maasai language." [] synonym: "Turkana Ethnic Group" EXACT [] is_a: NCIT:C16564 ! Ethnic Group property_value: http://purl.org/dc/elements/1.1/source "Demographic and Health Surveys Program (2015)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology, possibly below \"Ethnic Group\" in NCIT?" xsd:string property_value: SCDO:0000340 http://www.kenya-information-guide.com/turkana-tribe.html property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000141 name: Bassa def: "Bassa is a Niger-Congo Kru language. Historians have traced the Bassa's origins back to Egypt nearly six thousand years ago. Due to their migration from Egypt to other parts of Africa, the Bassa in Liberia share a similar history with Bassa groups in other parts of the continent such as Nigeria (Bassa Nge), The Democratic Republic of the Congo (Bassaa la Mpasu), Togo (Basa'r), Senegal (Bassa-Ri), and Cameroon (Basaa Mpoo)." [] synonym: "Bassa Ethnic Group" EXACT [] is_a: NCIT:C16564 ! Ethnic Group property_value: http://purl.org/dc/elements/1.1/source "Demographic and Health Surveys Program (2013)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology, possibly below \"Ethnic Group\" in NCIT?" xsd:string property_value: SCDO:0000340 http://nalrc.indiana.edu/brochures/new-broch/Bassa.pdf property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:1000142 name: Spectrophotometry def: "Spectrophotometry involves the use of a spectrophotometer to measure the amount of light that a sample absorbs. The instrument operates by passing a beam of light through a sample and measuring the intensity of light reaching a detector." [] synonym: "Spectrophotometry Method" EXACT [] xref: BAO:0000049 is_a: SCDO:0000896 ! Physical Detection Method property_value: SCDO:0000340 ?p=classes&conceptid=http%3A%2F%2Fwww.bioassayontology.org%2Fbao%23BAO:0000049 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000142 xsd:string [Term] id: SCDO:1000143 name: Disease Management Guideline def: "A recommendation on the appropriate treatment and care of people with a specific disease or condition, based on the best available evidence, designed to help healthcare professionals in their work." [] synonym: "Clinical Guideline" EXACT [] xref: FaBiO:d4e2515 is_a: SCDO:1000160 ! Guideline property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000340 "d4e2515" property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000143 xsd:string [Term] id: SCDO:1000144 name: Recommendations for the Management of Sickle Cell Disease in South Africa def: "Management protocols for the purposes of consistency and standardisation, which could also facilitate sharing of resources between centers for maximal utility. These recommendations have been developed for the South African setting, and it is intended to update them regularly to meet new demands and challenges." [] comment: South African Management Guidelines is_a: SCDO:1000143 ! Disease Management Guideline property_value: SCDO:0000303 "Probably not necessary to include in other ontologies." xsd:string property_value: SCDO:0000340 "N A Alli, M Patel, H D Alli, et al. Recommendations for the management of sickle cell disease in South Africa. SAMJ. 2014, Vol. 104, No. 11." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000145 name: National Guideline for the Control and Management of Sickle Cell Disease def: "Guidelines for the management of specific clinical problems and protocols for various therapeutic procedures for patients with sickle cell disease and thalassaemia; to facilitate uniformity and standardization of care across different disciplines." [] comment: A Nigerian document. is_a: SCDO:1000143 ! Disease Management Guideline property_value: SCDO:0000303 "Probably not necessary to include in other ontologies." xsd:string property_value: SCDO:0000340 "National guideline for the control and management of sickle cell disease. 2014." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000146 name: Management of Sickle Cell Disease - The United Republic of Tanzania def: "Guidelines for health care professionals for management of sickle cell disease in patients in the Tanzanian context." [] comment: Tanzania Management Guidelines is_a: SCDO:1000143 ! Disease Management Guideline property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Probably not necessary to include in other ontologies." xsd:string property_value: SCDO:0000340 "Management of Sickle Cell Disease - The United Republic of Tanzania" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000147 name: A Parental Guide to Managing Sickle Cell Disease def: "A booklet with information and standard guidelines to help parents learn about sickle cell disease and how to take care of their children with sickle cell disease." [] comment: A UK document.(for parents) is_a: SCDO:1000143 ! Disease Management Guideline property_value: SCDO:0000303 "Probably not necessary to include in other ontologies." xsd:string property_value: SCDO:0000340 "A parent's guide to managing sickle cell disease. Brent Sickle Cell and Thalassaemia Centre. 3rd Edition 2012." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000148 name: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK def: "A document that includes standards and guidelines for clinical care and recommendations for how care for adults with sickle cell disease should be delivered." [] comment: A UK document (for adults with SCD) is_a: SCDO:1000143 ! Disease Management Guideline property_value: SCDO:0000303 "Probably not necessary to include in other ontologies." xsd:string property_value: SCDO:0000340 "Standards for Clinical Care of Adults with Sickle Cell Disease in the UK, 2nd Edition. 2018, Sickle Cell Society." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000149 name: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit def: "The second edition of the Clinical Care Guidelines of the Sickle Cell Unit, containing revised and expanded guidelines for the management of sickle cell disease. It outlines a standard of care that is informed by best practice, taking into account resource limitations locally and regionally. It also contains patient information leaflets." [] comment: Jamaican Management Guidelines is_a: SCDO:1000143 ! Disease Management Guideline property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Probably not necessary to include in other ontologies." xsd:string property_value: SCDO:0000340 "Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit, 2015" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000150 name: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada def: "Standard of care guidelines that promote excellence in sickle cell care, and that lead to improved patient experiences around care and treatment." [] comment: A Canadian document. is_a: SCDO:1000143 ! Disease Management Guideline property_value: SCDO:0000303 "Probably not necessary to include in other ontologies." xsd:string property_value: SCDO:0000340 "Segbefia C, Pendergrast J, Amid A, et al. 2015. Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada. The Canadian Haemoglobinopathy Association." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000151 name: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care def: "A document that include standards and guidelines for clinical care and recommendations for how care for children with sickle cell disease should be delivered." [] comment: A UK document (for children with SCD) is_a: SCDO:1000143 ! Disease Management Guideline property_value: SCDO:0000303 "Probably not necessary to include in other ontologies." xsd:string property_value: SCDO:0000340 "Sickle cell disease in children, standards and guidelines for clinic care. 2nd edition. October 2010" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000152 name: Evidence-Based Management of Sickle Cell Disease def: "Guidelines providing the best science-based recommendations to guide practice decisions for primary care providers and other clinicians, nurses, and staff who provide emergency or continuity care to individuals with sickle cell disease (SCD). They assist health care professionals in the management of common issues, including routine health maintenance, the recognition and treatment of common acute and chronic complications and comorbidities of SCD, as well as the indications for and monitoring of hydroxyurea and blood transfusion therapy. The guidelines address the care of infants, children, adolescents, and adults with SCD, with the goal of facilitating high-quality and appropriate care for all individuals with this disease." [] comment: USA Management Guidelines Children is_a: SCDO:1000143 ! Disease Management Guideline property_value: SCDO:0000303 "Probably not necessary to include in other ontologies." xsd:string property_value: SCDO:0000340 "Evidence-Based Management of Sickle Cell Disease: Expert Panel Report, 2014" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000153 name: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives def: "A review of service delivery across Europe to children with sickle cell disease (SCD), reporting on the available minimum standards of care and future perspectives." [] comment: European document (Colombatti) is_a: SCDO:1000143 ! Disease Management Guideline property_value: http://purl.org/dc/elements/1.1/source "Colombatti R and Sainati L. Management of children with sickle cell disease in Europe: current situation and future perspectives. EMJ Hematol. 2016;4[1]:129-135." xsd:string property_value: SCDO:0000303 "Probably not necessary to include in other ontologies." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000154 name: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children def: "A document that describes various ways in which sickle cell disease can be managed and its complications can be prevented in children." [] comment: European document for children with SCD (Montalambert) is_a: SCDO:1000143 ! Disease Management Guideline property_value: http://purl.org/dc/elements/1.1/source "Am J Hematol. 2011 Jan;86(1):72-5. doi: 10.1002/ajh.21865." xsd:string property_value: SCDO:0000303 "Probably not necessary to include in other ontologies." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000155 name: Family Study def: "Research conducted on members of families, examining the affects of genetics, the environment, or twin offspring." [] synonym: "Familial Studies" EXACT [] synonym: "Familial Study" EXACT [] synonym: "Family Based Study" EXACT [] synonym: "Family Study" EXACT [] xref: EDDA:familial_study is_a: SCDO:0000437 ! Epidemiologic Studies property_value: SCDO:0000340 https://bioportal.bioontology.org/ontologies/EDDA/?p=classes&conceptid=http%3A%2F%2Fontologies.dbmi.pitt.edu%2Fedda%2FStudyDesigns.owl%23familial_study&jump_to_nav=true property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000155 xsd:string [Term] id: SCDO:1000157 name: Quality of Life Related Personal Attribute def: "The distinguishing qualities or prominent aspects of an individual person that have some relation with quality of life." [] is_a: NCIT:C17047 ! Quality of Life property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Probably too specific to SCDO to be included in other ontologies?" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000158 name: Crystallised Hemoglobin def: "Hemoglobin that has undergone conformational changes resulting in increased hydrophobicity that results in the formation of solid crystals consisting of hemoglobin particles." [] synonym: "Crystallised Haemoglobin" EXACT [] synonym: "Crystallized Haemoglobin" EXACT [] synonym: "Crystallized Hemoglobin" EXACT [] synonym: "Haemoglobin Crystals" EXACT [] synonym: "Hemoglobin Crystals" EXACT [] is_a: SCDO:0003807 ! Abnormal Hemoglobin property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into the HPO, below \"Abnormal Hemoglobin\"." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000159 name: Hemoglobin Genotype S/Beta Minus Thalassaemia def: "When one beta-globin gene carries the hemoglobin S mutation (beta6Glu>Val) whereas the other carries a mutation that reduces the amount of beta-globin chain synthesised." [] is_a: SCDO:1000107 ! Hemoglobin Genotype S/Beta Thalassemia relationship: RO:0003303 SCDO:0001056 ! causes condition Sickle Cell Disease-S Beta Minus Thalassemia relationship: SCDO:1000196 SCDO:0001765 ! has contributing genetic variation Beta-Minus Thalassemia Mutation relationship: SCDO:1000196 SCDO:1000039 ! has contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000222 SCDO:0000514 ! causes molecular phenotype Hemoglobin S relationship: SCDO:1000222 SCDO:0000976 ! causes molecular phenotype Reduced Hemoglobin A property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000160 name: Guideline def: "Work consisting of a set of statements, directions, or principles presenting current or future rules or policy. Guidelines may be developed by government agencies at any level, institutions, organizations such as professional societies or governing boards, or by the convening of expert panels. The text may be cursive or in outline form, but it is generally a comprehensive guide to problems and approaches in any discipline or activity. This concept relates to the general conduct and administration of health care activities rather than to specific decisions for a particular clinical condition." [] xref: MESH:D016431 is_a: SCDO:0001000 ! SCDO property_value: SCDO:0000303 "Do we rather want to use the more specific MESH term \"Practice Guideline\"?" xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D016431 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000160 xsd:string [Term] id: SCDO:1000161 name: Hemoglobin Genotype AS def: "A genotype whereby one HBB allele produces hemoglobin beta chains for normal adult hemoglobin and the other produces the abnormal hemoglobin beta chains of hemoglobin S. Individuals with this genotype are known to be carriers of the sickle cell trait." [] synonym: "Haemoglobin Genotype AS" EXACT [] synonym: "Sickle Cell Trait Genotype" EXACT [] is_a: SCDO:1000048 ! SCD Genotype relationship: RO:0003303 SCDO:0001055 ! causes condition Sickle Cell Trait relationship: SCDO:1000196 SCDO:1000039 ! has contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000222 SCDO:0000514 ! causes molecular phenotype Hemoglobin S property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000162 name: deprecated-Symptomatic Sickle Cell Trait def: "The condition in which an individual with sickle cell trait shows symptoms of sickle cell disease such as anemia or acute chest syndrome." [] comment: Often these individuals have co-inherited another hemoglobin mutation that decreases hemoglobin solubility (eg, HbS-Antilles; Hb-Quebec-Chori; HbS-Oman; Hb Jamaica Plain).\n\nOther rare causes of symptomatic sickle cell trait include: mosaicism for cells in which only the sickle mutation was expressed due to post-zygotic uniparental disomy, and when sickle cell trait coexists with pyruvate kinase deficiency, which lowers the hemoglobin oxygen affinity, resulting in hemoglobin S polymerization and sickling. synonym: "Clinical Sickle Cell Disease in the Heterozygous State" EXACT [] synonym: "Dominant Sickle Cell Disease" EXACT [] is_a: SCDO:0000359 ! deprecated terms property_value: http://purl.org/dc/elements/1.1/source "H7649235" property_value: SCDO:0000340 "H7649235" is_obsolete: true replaced_by: SCDO:1000211 [Term] id: SCDO:1000163 name: Compound Heterozygous Sickle Cell Disease def: "A hemoglobinopathy in which the sickle mutation (HBB, Glu6Val) is inherited in combination with another beta-globin gene mutation, other thanHBB, Glu6Val." [] synonym: "Compound Heterozygous Sickling Disorder" EXACT [] is_a: SCDO:0001051 ! Variant Sickle Cell Syndrome property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000164 name: Sickle Cell Disease A/Jamaica Plain def: "Sickle cell disease caused by two mutations in the same beta globin allele, specifically the sickle cell mutation beta6 Glu > Val and a second beta68 Leu > Phe mutation.The other beta globin allele produces normal beta globin chains." [] is_a: SCDO:0008262 ! Structural Hemoglobinopathy is_a: SCDO:1000211 ! Dominant Sickle Cell Disease relationship: SCDO:0001364 HP:0000006 ! has mode of inheritance Autosomal Dominant relationship: SCDO:1000172 SCDO:1000071 ! has causal genotype Hemoglobin Genotype A/Jamaica Plain relationship: SCDO:1000210 SCDO:1000039 ! has causal or contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000210 SCDO:1000047 ! has causal or contributing genetic variation HBB, LEU68PHE relationship: SCDO:1000218 HP:0001878 ! has manifestation Hemolytic Anemia relationship: SCDO:1000218 NCIT:C3890 ! has manifestation Hypoxia relationship: SCDO:1000223 SCDO:1000072 ! has causal molecular phenotype Hemoglobin Jamaica Plain property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source "t=article" property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000165 name: Sickle Cell Disease A/S-Oman def: "Sickle cell disease caused by two mutations in the same beta globin allele, specifically the sickle cell mutation (beta6 Glu > Val) and the hemoglobin O-Arab mutation (beta121 Glu > Lys). The other beta globin allele produces normal beta globin chains." [] is_a: SCDO:0008262 ! Structural Hemoglobinopathy is_a: SCDO:1000211 ! Dominant Sickle Cell Disease relationship: SCDO:0001364 HP:0000006 ! has mode of inheritance Autosomal Dominant relationship: SCDO:1000172 SCDO:1000075 ! has causal genotype Hemoglobin Genotype A/S-Oman relationship: SCDO:1000210 SCDO:1000039 ! has causal or contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000210 SCDO:1000040 ! has causal or contributing genetic variation HBB, GLU121LYS relationship: SCDO:1000223 SCDO:1000074 ! has causal molecular phenotype Hemoglobin S-Oman property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "0245" property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000166 name: Sickle Cell Disease C/S Antilles def: "Sickle cell disease caused by two mutations in the same beta globin allele, specifically the sickle cell mutation beta6 Glu > Val and a second beta 23 Val>Ile mutation. The other beta globin allele produces normal beta globin chains." [] is_a: SCDO:0008262 ! Structural Hemoglobinopathy is_a: SCDO:1000211 ! Dominant Sickle Cell Disease relationship: SCDO:0000663 NCIT:C15709 ! diagnosed using tool Genetic Testing relationship: SCDO:0000663 SCDO:0000547 ! diagnosed using tool Hemoglobin Profile Assay relationship: SCDO:0000663 SCDO:0000666 ! diagnosed using tool Isoelectric Focusing relationship: SCDO:0001364 SCDO:1000243 ! has mode of inheritance Autosomal Recessive Compound Heterozygous relationship: SCDO:1000172 SCDO:1000081 ! has causal genotype Hemoglobin Genotype C/S Antilles relationship: SCDO:1000210 SCDO:1000039 ! has causal or contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000210 SCDO:1000041 ! has causal or contributing genetic variation HBB, GLU6LYS relationship: SCDO:1000210 SCDO:1000045 ! has causal or contributing genetic variation HBB, VAL23ILE relationship: SCDO:1000223 SCDO:0000513 ! has causal molecular phenotype Hemoglobin C relationship: SCDO:1000223 SCDO:1000073 ! has causal molecular phenotype Hemoglobin S-Antilles property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "0244" property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000170 name: Diagnosis Guideline def: "A directive information entity that specifies how to establish a diagnosis based on clinical findings." [] xref: AERO:0000001 is_a: SCDO:1000160 ! Guideline property_value: SCDO:0000340 AERO:0000001 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000170 xsd:string [Term] id: SCDO:1000173 name: Billable ICD-10-CM Code def: "An ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes as there are no codes with a greater level of specificity under each code." [] synonym: "Specific ICD-10-CM Code" EXACT [] is_a: SCDO:1000100 ! ICD-10-CM Code Type property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.icd10data.com/ICD10CM/Codes/Rules/Billable_Specific_Codes property_value: http://purl.org/dc/elements/1.1/source https://www.unboundmedicine.com/icd/view/ICD-10-CM/860000/all/About_ICD_10_CM_Coding_Guide property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000174 name: Non-Billable ICD-10-CM Code def: "An ICD-10-CM diagnosis code that is not billable as there are more specific codes below it that contain a greater level of detail." [] synonym: "Non-specific ICD-10-CM Code" EXACT [] is_a: SCDO:1000100 ! ICD-10-CM Code Type property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.unboundmedicine.com/icd/view/ICD-10-CM/860000/all/About_ICD_10_CM_Coding_Guide property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000177 name: N48.32 Priapism due to disease classified elsewhere def: "-" [] synonym: "N48.32" EXACT [] synonym: "Priapism due to disease classified elsewhere" EXACT [] xref: ICD10CM:N48.32 is_a: SCDO:0000607 ! ICD-10-CM Diagnosis Codes relationship: SCDO:1000785 SCDO:0000923 ! code requires phenotype Priapism property_value: http://purl.org/dc/elements/1.1/source https://www.icd10data.com/ICD10CM/Codes/N00-N99/N40-N53/N48-/N48.32 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000178 name: SickleInAfrica Extended Demographics Data Element def: "A data element in the SickleInAfrica Extended Demographics data capture instrument." [] synonym: "SickleInAfrica Extended Demographics DE" EXACT [] is_a: SCDO:1000508 ! SickleInAfrica Data Element property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000179 name: Absent Hemoglobin E def: "A lack of production of hemoglobin E." [] synonym: "Absent Haemoglobin E" EXACT [] synonym: "Haemoglobin E Absent" EXACT [] synonym: "Hemoglobin E Absent" EXACT [] synonym: "Normal Haemoglobin E Level" EXACT [] synonym: "Normal Hemoglobin E Level" EXACT [] is_a: SCDO:1000783 ! Normal Hemoglobin Concentration property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000181 name: Hemoglobin E Present def: "When the abnormal hemoglobin, hemoglobin E (HbE), has been detected in a blood sample." [] synonym: "Haemoglobin E in Blood" EXACT [] synonym: "Haemoglobin E Present" EXACT [] synonym: "HbE in Blood" EXACT [] synonym: "HbE Present" EXACT [] synonym: "Hemoglobin E in Blood" EXACT [] is_a: HP:0020061 ! Abnormal Hemoglobin Concentration property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000187 name: Normal Hemoglobin A2 Level def: "When the level of hemoglobin A2 detected in a sample of blood falls in the normal range for HbA2." [] synonym: "Normal Haemoglobin A2 Level" EXACT [] synonym: "Normal HbA2 Level" EXACT [] synonym: "Normal Hemoglobin A2 Concentration" EXACT [] is_a: SCDO:1000783 ! Normal Hemoglobin Concentration property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000197 name: HIV Combination Test def: "A test to detect both HIV antibodies and HIV antigens (a part of the virus) in blood." [] comment: It can take 2 to 6 weeks for a person’s body to make enough antigens and antibodies for a combination test to detect HIV infection. synonym: "Antibody/Antigen Tests" EXACT [] is_a: SCDO:0000571 ! HIV Test property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Khuthala Mnika)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology." xsd:string property_value: SCDO:0000340 https://aidsinfo.nih.gov/understanding-hiv-aids/fact-sheets/19/47/hiv-testing property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000198 name: HIV Nucleic Acid Test def: "A test to detect HIV in a person's blood." [] comment: NATS can detect HIV infection about 7 to 28 days after a person has been infected with HIV.\nNATs are very expensive and not routinely used for HIV screening unless the person had a high-risk exposure or a possible exposure with early symptoms of HIV infection. synonym: "NAT" EXACT [] {synonymtypedef="abbreviation"} is_a: SCDO:0000571 ! HIV Test property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Khuthala Mnika)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology. The more specific term \"HIV-1 nucleic acid testing\" is found in the OBI." xsd:string property_value: SCDO:0000340 https://aidsinfo.nih.gov/understanding-hiv-aids/fact-sheets/19/47/hiv-testing property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000201 name: High Level Albuminuria def: "An abnormal albumin excretion rate of more than 300 mg/g urine creatinine." [] synonym: "Macro-albuminuria" EXACT [] synonym: "Macroalbuminuria" EXACT [] is_a: SCDO:0000037 ! Albuminuria property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/141501 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000205 name: Hemoglobin C-Harlem Disease def: "A clinically severe form of sickle cell disease resulting when a person is homozygous for Hemoglobin C-Harlem." [] is_a: SCDO:0008262 ! Structural Hemoglobinopathy relationship: SCDO:0001364 HP:0000007 ! has mode of inheritance Autosomal Recessive relationship: SCDO:1000210 SCDO:1000039 ! has causal or contributing genetic variation HBB, GLU6VAL relationship: SCDO:1000210 SCDO:1000044 ! has causal or contributing genetic variation HBB, ASP73ASN relationship: SCDO:1000223 SCDO:1000058 ! has causal molecular phenotype Hemoglobin C-Harlem property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source http://clinchem.aaccjnls.org/content/55/6/1228 property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000206 name: Genetic Recombination def: "Production of new arrangements of DNA by various mechanisms such as assortment and segregation, crossing over; gene conversion; genetic transformation; genetic conjugation; genetic transduction; or mixed infection of viruses." [] synonym: "Recombination" EXACT [] synonym: "Recombination, Genetic" EXACT [] xref: MESH:D011995 is_a: SCDO:0001369 ! Genetic Variation property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D011995 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000206 xsd:string [Term] id: SCDO:1000207 name: Homologous Recombination def: "An exchange of DNA between matching or similar sequences." [] synonym: "Homologous Recombinations" EXACT [] xref: MESH:D059765 is_a: SCDO:1000206 ! Genetic Recombination property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D059765 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000207 xsd:string [Term] id: SCDO:1000208 name: Genetic Crossing Over def: "The reciprocal exchange of segments at corresponding positions along pairs of homologous chromosomes by symmetrical breakage and crosswise rejoining forming cross-over sites (Holliday junctions) that are resolved during chromosome segregation. Crossing-over typically occurs during meiosis but it may also occur in the absence of meiosis, for example, with bacterial chromosomes, organelle chromosomes, or somatic cell nuclear chromosomes." [] synonym: "Crossing Over, Genetic" EXACT [] xref: MESH:D003434 is_a: SCDO:1000207 ! Homologous Recombination property_value: SCDO:0000303 "link this term to" xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D003434 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000208 xsd:string [Term] id: SCDO:1000209 name: Crossover between delta (HBD) and beta globin (HBB) gene loci def: "The homologous recombination event that occurs during meiosis and results in the delta beta globin fusion chains that replace hemoglobin subunit beta chains in the abnormal hemoglobin, Hemoglobin Lepore." [] is_a: SCDO:1000208 ! Genetic Crossing Over relationship: RO:0003302 SCDO:0000343 ! causes or contributes to condition Delta Beta Thalassemia relationship: RO:0003302 SCDO:0000536 ! causes or contributes to condition Hemoglobin Lepore Boston Disease relationship: RO:0003302 SCDO:0001063 ! causes or contributes to condition Sickle Cell Disease-S/Lepore Boston relationship: RO:0003303 NCIT:C141366 ! causes condition Hemoglobin Lepore Syndrome relationship: SCDO:1000184 SCDO:1000070 ! contributes to genotype Hemoglobin Genotype S/Lepore Boston relationship: SCDO:1000184 SCDO:1000236 ! contributes to genotype Hemoglobin Lepore Boston Genotype relationship: SCDO:1000217 SCDO:1000089 ! causes or contributes to molecular phenotype Hemoglobin Lepore Boston property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 https://en.wikipedia.org/wiki/Hemoglobin_Lepore_syndrome property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000211 name: Dominant Sickle Cell Disease def: "Clinical sickle cell disease in the heterozygous state due to an additional mutation on the same allele as the beta S mutation." [] comment: Often these individuals have co-inherited another hemoglobin mutation that decreases hemoglobin solubility (eg, HbS-Antilles; Hb-Quebec-Chori; HbS-Oman; Hb Jamaica Plain).\n\nOther rare causes of symptomatic sickle cell trait include: mosaicism for cells in which only the sickle mutation was expressed due to post-zygotic uniparental disomy, and when sickle cell trait coexists with pyruvate kinase deficiency, which lowers the hemoglobin oxygen affinity, resulting in hemoglobin S polymerization and sickling. synonym: "Dominant Sickle Cell Syndrome" EXACT [] synonym: "Dominant Sickle Syndrome" EXACT [] is_a: NCIT:C95534 ! Hemoglobin Trait is_a: SCDO:0001051 ! Variant Sickle Cell Syndrome property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source http://wwwuptodatecom.uptodate.sdsl.yuntsg.cn:2222/contents/overview-of-variant-sickle-cell-syndromes property_value: SCDO:0000303 "Hemoglobin Jamaica Plain is an example of an abnormal hemoglobin structure caused by a double mutation in 1 Hb allele." xsd:string property_value: SCDO:0000340 http://wwwuptodatecom.uptodate.sdsl.yuntsg.cn:2222/contents/overview-of-variant-sickle-cell-syndromes property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000212 name: deprecated Disease Caused by A/Jamaica Plain Genotype is_a: SCDO:0000359 ! deprecated terms is_obsolete: true replaced_by: SCDO:1000164 [Term] id: SCDO:1000213 name: deprecated Disease Caused by A/S-Oman Genotype is_a: SCDO:0000359 ! deprecated terms property_value: http://purl.org/dc/elements/1.1/source "0245" is_obsolete: true replaced_by: SCDO:1000165 [Term] id: SCDO:1000214 name: deprecated Disease Caused by C/S Antilles Genotype is_a: SCDO:0000359 ! deprecated terms is_obsolete: true replaced_by: SCDO:1000166 [Term] id: SCDO:1000215 name: Structural and Quantitative Hemoglobinopathy def: "A hemoglobinopathy involving the presence of structurally abnormal hemoglobins and defects in the quantity of hemoglobins synthesised." [] is_a: SCDO:0000552 ! Hemoglobinopathy property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Probably too specific to the SCDO to be included in other ontologies." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000221 name: Alpha Thalassemia Silent Genotype def: "A genotype whereby one of the four alpha-globin genes is faulty, either as a result of a single nucleotide variant (SNP) or of a deletion." [] synonym: "-/alpha alpha/alpha" EXACT [] is_a: EUPATH:0000034 ! Alpha Thalassemia Genotype relationship: RO:0003303 NCIT:C95536 ! causes condition Alpha Thalassemia Silent Carrier relationship: SCDO:1000196 SCDO:1000239 ! has contributing genetic variation Heterozygous Deletion of HBA1 or HBA2 relationship: SCDO:1000222 HP:0011907 ! causes molecular phenotype Reduced Alpha/Beta Synthesis Ratio property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 Alpha:Thalassemia property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000224 name: Easy Bruisability def: "Increased susceptibility to bruising." [] synonym: "Bruisability, Bruising susceptibility, Easy bruising" EXACT [] synonym: "Bruise Easily" EXACT [] synonym: "Bruising Susceptibility" EXACT [] synonym: "Easy Bruising" EXACT [] is_a: HP:0002597 ! Abnormality of the Vasculature relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Suggest update to label of HPO's \"Bruising Susceptibility\". \n\"Bruising Susceptibility\" and \"Easy Bruisability\" are not actually the same thing." xsd:string property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:1000225 name: Hemoglobin Genotype AC def: "A genotype whereby one HBB allele produces hemoglobin beta chains for normal adult hemoglobin and the other produces the abnormal hemoglobin beta chains for hemoglobin C. Individuals with this genotype are known to be carriers of the hemoglobin C trait." [] synonym: "AC Genotype" EXACT [] synonym: "AC Hemoglobin Genotype" EXACT [] synonym: "beta / beta6Glu>Lys" EXACT [] synonym: "Haemoglobin Genotype AC" EXACT [] synonym: "Hemoglobin C Trait Genotype" EXACT [] is_a: SCDO:0004061 ! Genotype relationship: RO:0003303 SCDO:0000520 ! causes condition Hemoglobin C Trait relationship: SCDO:1000196 SCDO:1000041 ! has contributing genetic variation HBB, GLU6LYS relationship: SCDO:1000222 SCDO:0000513 ! causes molecular phenotype Hemoglobin C property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Clair Ingram)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000226 name: Hemoglobin Genotype AD def: "A genotype whereby one HBB allele produces hemoglobin beta chains for normal adult hemoglobin and the other produces the abnormal hemoglobin beta chains for hemoglobin D. Individuals with this genotype are known to be carriers of the hemoglobin D trait." [] synonym: "AD Genotype" EXACT [] synonym: "AD Hemoglobin Genotype" EXACT [] synonym: "Haemoglobin Genotype AD" EXACT [] synonym: "Hemoglobin D Trait Genotype" EXACT [] is_a: SCDO:0004061 ! Genotype relationship: RO:0003303 SCDO:0000525 ! causes condition Hemoglobin D Trait relationship: SCDO:1000196 SCDO:1000108 ! has contributing genetic variation HBB, SER9TYR relationship: SCDO:1000196 SCDO:1000109 ! has contributing genetic variation HBB, GLU121GLN relationship: SCDO:1000196 SCDO:1000110 ! has contributing genetic variation HBB, GLY16ARG relationship: SCDO:1000196 SCDO:1000111 ! has contributing genetic variation HBB, ASN19LYS relationship: SCDO:1000196 SCDO:1000112 ! has contributing genetic variation HBB, GLU22GLN relationship: SCDO:1000196 SCDO:1000113 ! has contributing genetic variation HBB, GLU22VAL relationship: SCDO:1000196 SCDO:1000114 ! has contributing genetic variation HBB, THR87LYS relationship: SCDO:1000196 SCDO:1000115 ! has contributing genetic variation HBB, GLU121ALA relationship: SCDO:1000222 SCDO:1000007 ! causes molecular phenotype Hemoglobin D property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Clair Ingram)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000227 name: Hemoglobin Genotype AE def: "A genotype whereby one HBB allele produces hemoglobin beta chains for normal adult hemoglobin and the other produces the abnormal hemoglobin beta chains for hemoglobin E. Individuals with this genotype are known to be carriers of the hemoglobin E trait." [] synonym: "AE Genotype" EXACT [] synonym: "AE Hemoglobin Genotype" EXACT [] synonym: "beta / beta26Glu>Lys" EXACT [] synonym: "Haemoglobin Genotype AE" EXACT [] synonym: "Hemoglobin E Trait Genotype" EXACT [] is_a: SCDO:0004061 ! Genotype relationship: RO:0003303 SCDO:0000531 ! causes condition Hemoglobin E Trait relationship: SCDO:1000196 SCDO:1000042 ! has contributing genetic variation HBB, GLU26LYS relationship: SCDO:1000222 SCDO:1000009 ! causes molecular phenotype Hemoglobin E property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Clair Ingram)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000228 name: Hemoglobin Genotype AO-Arab def: "A genotype whereby one HBB allele produces hemoglobin beta chains for normal adult hemoglobin and the other produces the abnormal hemoglobin beta chains for hemoglobin O-Arab. Individuals with this genotype are known to be carriers of the hemoglobin O-Arab trait." [] synonym: "AO-Arab Genotype" EXACT [] synonym: "AO-Arab Hemoglobin Genotype" EXACT [] synonym: "beta / beta121Glu>Lys" EXACT [] synonym: "Haemoglobin Genotype AO-Arab" EXACT [] is_a: SCDO:0004061 ! Genotype relationship: RO:0003303 SCDO:0000545 ! causes condition Hemoglobin O-Arab Trait relationship: SCDO:1000196 SCDO:1000040 ! has contributing genetic variation HBB, GLU121LYS relationship: SCDO:1000222 SCDO:1000016 ! causes molecular phenotype Hemoglobin O-Arab property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000229 name: Hemoglobin Genotype EE def: "The homozygous genotype that involves a substitution of glutamic acid for a lysine at position 26 of beta-globin chains (hemoglobin E mutation) produced by both beta-globin gene (HBB) alleles." [] synonym: "beta6Glu>Lys / beta26Glu>Lys" EXACT [] synonym: "EE Genotype" EXACT [] synonym: "EE Hemoglobin Genotype" EXACT [] synonym: "Haemoglobin Genotype EE" EXACT [] synonym: "Hemoglobin E Genotype" EXACT [] is_a: SCDO:0004061 ! Genotype relationship: RO:0003303 SCDO:0000530 ! causes condition Hemoglobin E Disease relationship: SCDO:1000196 SCDO:1000042 ! has contributing genetic variation HBB, GLU26LYS relationship: SCDO:1000222 SCDO:1000009 ! causes molecular phenotype Hemoglobin E property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000230 name: Hemoglobin Genotype DD def: "The homozygous genotype that involves a hemoglobin D mutation in both beta-globin gene (HBB) alleles." [] synonym: "DD Genotype" EXACT [] synonym: "DD Hemoglobin Genotype" EXACT [] synonym: "Haemoglobin Genotype DD" EXACT [] synonym: "Hemoglobin C Genotype" EXACT [] is_a: SCDO:0004061 ! Genotype relationship: RO:0003303 SCDO:0000524 ! causes condition Hemoglobin D Disease relationship: SCDO:1000196 SCDO:1000108 ! has contributing genetic variation HBB, SER9TYR relationship: SCDO:1000196 SCDO:1000109 ! has contributing genetic variation HBB, GLU121GLN relationship: SCDO:1000196 SCDO:1000110 ! has contributing genetic variation HBB, GLY16ARG relationship: SCDO:1000196 SCDO:1000111 ! has contributing genetic variation HBB, ASN19LYS relationship: SCDO:1000196 SCDO:1000112 ! has contributing genetic variation HBB, GLU22GLN relationship: SCDO:1000196 SCDO:1000113 ! has contributing genetic variation HBB, GLU22VAL relationship: SCDO:1000196 SCDO:1000114 ! has contributing genetic variation HBB, THR87LYS relationship: SCDO:1000196 SCDO:1000115 ! has contributing genetic variation HBB, GLU121ALA relationship: SCDO:1000222 SCDO:1000007 ! causes molecular phenotype Hemoglobin D property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000231 name: Hemoglobin Genotype O-Arab def: "The homozygous genotype that involves a substitution of glutamic acid for a lysine at position 121 of beta-globin chains (hemoglobin O-Arab mutation) produced by both beta-globin gene (HBB) alleles." [] synonym: "beta121Glu>Lys / beta121Glu>Lys" EXACT [] synonym: "Haemoglobin Genotype O-Arab" EXACT [] synonym: "O-Arab Genotype" EXACT [] synonym: "O-Arab Hemoglobin Genotype" EXACT [] is_a: SCDO:0004061 ! Genotype relationship: RO:0003303 SCDO:0000544 ! causes condition Hemoglobin O-Arab Disease relationship: SCDO:1000196 SCDO:1000040 ! has contributing genetic variation HBB, GLU121LYS relationship: SCDO:1000222 SCDO:1000016 ! causes molecular phenotype Hemoglobin O-Arab property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Probably not necessary to include in other ontologies." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000232 name: Hemoglobin Genotype CC def: "The homozygous genotype that involves a substitution of glutamic acid for a lysine at position 6 of beta-globin chains (hemoglobin C mutation) produced by both beta-globin gene (HBB) alleles." [] synonym: "beta6Glu>Lys / beta6Glu>Lys" EXACT [] synonym: "CC Genotype" EXACT [] synonym: "CC Hemoglobin Genotype" EXACT [] synonym: "Haemoglobin Genotype CC" EXACT [] synonym: "Hemoglobin C Genotype" EXACT [] is_a: SCDO:0004061 ! Genotype relationship: RO:0003303 SCDO:0000519 ! causes condition Hemoglobin C Disease relationship: SCDO:1000196 SCDO:1000041 ! has contributing genetic variation HBB, GLU6LYS relationship: SCDO:1000222 SCDO:0000513 ! causes molecular phenotype Hemoglobin C property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000233 name: Hemoglobin Genotype M def: "The presence of an amino acid substitution in either an alpha-, beta-, or gamma-globin chain such that its proximity to the heme iron in the hemoglobin molecule results in facilitated oxidation of the hemoglobin to yield excess methemoglobin. This can occur in either one or both alleles of the effected gene." [] synonym: "Haemoglobin Genotype M" EXACT [] synonym: "Hemoglobin M Genotype" EXACT [] is_a: SCDO:0004061 ! Genotype relationship: RO:0003303 SCDO:0000541 ! causes condition Hemoglobin M Disease relationship: SCDO:1000196 SCDO:1000238 ! has contributing genetic variation CYB5R3 Mutation property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 "a3" property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D006449 property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000234 name: obsolete - Hemoglobin M trait Genotype is_a: SCDO:0000359 ! deprecated terms property_value: SCDO:0000303 "Hemoglobin M Disease is autosomal dominant, thus does not seem to have a \"trait\" condition." xsd:string is_obsolete: true [Term] id: SCDO:1000235 name: Hereditary Persistence of Fetal Hemoglobin Genotype def: "Either homozygosity or heterozygosity for the HPFH1 mutation, a 106-KB deletion in the beta globin gene cluster." [] is_a: SCDO:0004061 ! Genotype relationship: RO:0003303 NCIT:C129072 ! causes condition Hereditary Persistence of Fetal Hemoglobin relationship: SCDO:1000196 SCDO:0006860 ! has contributing genetic variation HBG1 and/or HBG2 Mutations relationship: SCDO:1000196 SCDO:1000063 ! has contributing genetic variation HBB, 106-KB DEL relationship: SCDO:1000222 HP:0011904 ! causes molecular phenotype Increased Hemoglobin F property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 https://www.ncbi.nlm.nih.gov/pubmed/603615 property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000236 name: Hemoglobin Lepore Boston Genotype def: "The homozygous genotype for Hemoglobin Lepore Boston that involves a crossover between both sets of delta (HBD) and beta globin (HBB) gene loci during meiosis." [] is_a: SCDO:0007624 ! Beta Thalassemia Genotype relationship: RO:0003303 SCDO:0000536 ! causes condition Hemoglobin Lepore Boston Disease relationship: SCDO:1000196 SCDO:1000209 ! has contributing genetic variation Crossover between delta (HBD) and beta globin (HBB) gene loci property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000237 name: Hemoglobin C-Harlem Trait def: "The inheritance of one normal HBB gene along with an abnormal HBB gene that contains two amino acid substitutions, namely Glu6Val (HbS) and Asp73Asn." [] comment: Erythrocytes from persons with Hb CH trait show some sickling in hypertonic saline without deoxygenation; this finding and the renal functional abnormalities are similar to those seen in persons with sickle cell trait and suggest that the renal concentrating defects in the two disorders have similar pathogeneses. synonym: "Hb CH-Trait" EXACT [] is_a: NCIT:C95534 ! Hemoglobin Trait property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://annals.org/aim/article-abstract/681956/clinical-features-hemoglobin-c-harlem-new-sickling-hemoglobin-variant property_value: SCDO:0000303 "Request inclusion into NCIT below \"Hemoglobin Trait\"." xsd:string property_value: SCDO:0000340 https://annals.org/aim/article-abstract/681956/clinical-features-hemoglobin-c-harlem-new-sickling-hemoglobin-variant property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000238 name: CYB5R3 Mutation def: "A mutation in the NADH-Cytochrome b5 Reductase 3 gene, CYB5R3, that contributes to the presence of methemoglobinemia (type I or II)." [] synonym: "DIA 1 Mutation" EXACT [] synonym: "Diaphorase Mutation" EXACT [] synonym: "Methemoglobinemia Mutation" EXACT [] synonym: "NADH-Cytochrome b5 Reductase 3 Mutation" EXACT [] is_a: IDOMAL:50000026 ! Mutation relationship: SCDO:1000184 SCDO:1000233 ! contributes to genotype Hemoglobin Genotype M property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000239 name: Heterozygous Deletion of HBA1 or HBA2 def: "Deletion of one alpha-globin gene, either an HBA1 or HBA2 gene, which results in Alpha Thalassemia Silent (the person with the mutation is a silent carrier)." [] is_a: SCDO:0001386 ! Alpha-Globin Locus Deletion relationship: SCDO:1000184 SCDO:1000221 ! contributes to genotype Alpha Thalassemia Silent Genotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000240 name: Reduced or Absent Hemoglobin A def: "Either a decrease in the proportion of hemoglobin A to below 96-98% of all hemoglobin, or a complete lack of hemoglobin A production." [] is_a: SCDO:1000061 ! Altered Level of Normal Hemoglobin in SCD property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Probably too specific to be added to existing ontologies?" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000241 name: Absent Hemoglobin A def: "A lack of production of normal adult hemoglobin." [] synonym: "Hemoglobin A Absent" EXACT [] is_a: HP:0020061 ! Abnormal Hemoglobin Concentration is_a: SCDO:1000061 ! Altered Level of Normal Hemoglobin in SCD property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into HPO below \"Abnormal Hemoglobin Concentration\"." xsd:string property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:1000242 name: Autosomal Recessive Homozygous def: "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals that are homozygotes (having two copies of the same mutant allele)." [] synonym: "Autosomal Homozygous Recessive Inheritance" EXACT [] is_a: HP:0000007 ! Autosomal Recessive property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000243 name: Autosomal Recessive Compound Heterozygous def: "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals that are compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [] synonym: "Autosomal Recessive Compound Heterozygous Inheritance" EXACT [] is_a: HP:0000007 ! Autosomal Recessive property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000244 name: Sickle Cell Trait with a Severe Pyruvate Kinase Deficiency def: "A sickle cell disease phenotype in which an individual heterozygous for hemoglobin S also has a severe pyruvate kinase deficiency, which lowers the hemoglobin oxygen affinity, resulting in hemoglobin S polymerization and sickling." [] is_a: SCDO:1000211 ! Dominant Sickle Cell Disease property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.ncbi.nlm.nih.gov/pubmed/19758413/ property_value: http://purl.org/dc/elements/1.1/source https://www.ncbi.nlm.nih.gov/pubmed/9886305 property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000247 name: L-Glutamine Oral Powder def: "A powder form of the optically active form of glutamine having L-configuration; to be administered orally." [] comment: Oral administration of L-glutamine oral powder is approved by the FDA to reduce the acute complications of sickle cell disease and sickle beta zero-thalassemia in adult and pediatric patients. synonym: "Glutamine Oral Powder" EXACT [] synonym: "Glutamine Oral Powder Product" EXACT [] synonym: "Glutamine Powder" EXACT [] synonym: "L-Glutamine Powder" EXACT [] synonym: "Oral Glutamine" EXACT [] is_a: CHEBI:23888 ! Drug is_a: SCDO:0001133 ! Symptomatic Therapeutics property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.fda.gov/Drugs/InformationOnDrugs/ApprovedDrugs/ucm566097.htm property_value: SCDO:0000303 "Suggest update to description in the Drug Ontology (DRON) for \"Glutamine Oral Powder\" (currently no description provided)." xsd:string property_value: SCDO:0000340 CHEBI:18050 property_value: SCDO:0000340 https://www.fda.gov/Drugs/InformationOnDrugs/ApprovedDrugs/ucm566097.htm property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000250 name: deprecated Abnormal Molecular Function def: "A phenotype in which a specific molecular function is abnormal." [] xref: FYPO:0000707 is_a: SCDO:0000359 ! deprecated terms property_value: SCDO:0000340 FYPO:0000707 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000250 xsd:string is_obsolete: true [Term] id: SCDO:1000251 name: Increased Red Cell Osmotic Fragility def: "An increase in red blood cell sensitivity to change in osmotic pressure. More specifically, the degree or proportion of hemolysis that occurs when a sample of red blood cells are subjected to osmotic stress by being placed in a hypotonic solution." [] synonym: "Increased Erythrocyte Osmotic Fragility" EXACT [] synonym: "Increased Red Cell Fragility" EXACT [] xref: HP:0005502 is_a: HP:0020054 ! Abnormal Erythrocyte Physiology property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "What is normal osmotic fragility? Perhaps this can be included in the description.\n\nSuggest update to description in the HPO. Currently no description given.\n\nInclude \"Osmotic Fragility Test\" in an appropriate location below \"Diagnostics Tools\" and link to this term." xsd:string property_value: SCDO:0000340 Erythrocyte:fragility property_value: SCDO:0000340 HP:0005502 property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/MESH?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD009996 property_value: SCDO:1000288 "Suggest update to description." xsd:string [Term] id: SCDO:1000252 name: Increased Red Cell Osmotic Resistance xref: HP:0005546 is_a: HP:0020054 ! Abnormal Erythrocyte Physiology property_value: http://purl.org/dc/elements/1.1/source https://www.ncbi.nlm.nih.gov/pmc/articles/PMC439273/?page=1 property_value: SCDO:0000303 "Is this not the same as \"Increased Red Cell Osmotic Fragility\"? See dc:source provided.\n\nWhat is normal osmotic resistance? Perhaps this can be included in the description.\n\nSuggest update to description in the HPO. Currently no description given.\n\nInclude \"Osmotic Fragility Test\" in an appropriate location below \"Diagnostics Tools\" and link to this term." xsd:string property_value: SCDO:0000340 HP:0005546 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000253 name: Abnormal Biological Process def: "A situation in which a specific biological process within an organism is abnormal." [] xref: FYPO:0005447 is_a: HP:0000118 ! Abnormal Phenotype property_value: SCDO:0000303 "Include here \"Intrahepatic Sinusoidal\nSickling\"? See paper \"Liver involvement in sickle cell disease\" by Emel GÜRKAN et al." xsd:string property_value: SCDO:0000340 FYPO:0005447 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000253 xsd:string [Term] id: SCDO:1000254 name: Polymerisation of Hemoglobin def: "When deoxygenated, malfunctioning or mutated hemoglobins clump together and form a long polymer." [] synonym: "Hemoglobin Polymerisation" EXACT [] is_a: SCDO:1000253 ! Abnormal Biological Process property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000340 scd:background.html property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000255 name: Guidelines on Red Cell Transfusion in Sickle Cell Disease - Part II: Indications for Transfusion def: "Guidelines that examine current available evidence on indications for transfusion in sickle cell disease." [] is_a: SCDO:1000143 ! Disease Management Guideline property_value: SCDO:0000303 "Probably not necessary to include in other ontologies." xsd:string property_value: SCDO:0000340 "Br J Haematol. 2017 Jan;176(2):192-209. doi: 10.1111/bjh.14383. Epub 2016 Nov 18." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000256 name: Sickle Cell Acute Painful Episode - Management of an Acute Painful Sickle Cell Episode in Hospital def: "This guideline addresses the management of an acute painful sickle cell episode in patients presenting to hospital until discharge. This includes the use of pharmacological and non-pharmacological interventions, identifying the signs and symptoms of acute complications, skills and settings for managing an acute painful episode, and the information and support needs of patients." [] is_a: SCDO:1000143 ! Disease Management Guideline property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.bmj.com/content/344/bmj.e4063.full property_value: SCDO:0000303 "Probably not necessary to include in other ontologies." xsd:string property_value: SCDO:0000340 https://www.ncbi.nlm.nih.gov/pubmed/23534086 property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000257 name: Three Tips About Sickle Cell Disease Every Emergency Provider Needs to Know def: "A factsheet that shares steps to improve care in emergency departments (ED) of hospitals and clinics for people with sickle cell disease (SCD). It was created to help improve healthcare in the ED for patients with SCD." [] is_a: SCDO:1000143 ! Disease Management Guideline property_value: SCDO:0000303 "Probably not necessary to include in other ontologies." xsd:string property_value: SCDO:0000340 https://f2fmichigan.org/resource/three-tips-about-sickle-cell-disease-every-emergency-provider-needs-to-know/ property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000258 name: Practice Guidelines: Management of Pain in Sickle Cell Disease def: "A comprehensive guideline to aid physicians and other health care professionals in the management of patients with acute and chronic pain associated with sickle cell disease (SCD). The guideline covers the following information: an overview of the disease, the types and characteristics of pain associated with the disease, recommendations for pain assessment, methods for treatment of pain and a discussion of pain in the various developmental stages. It also includes discussions of pain assessment instruments." [] is_a: SCDO:1000143 ! Disease Management Guideline property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Probably not necessary to include in other ontologies." xsd:string property_value: SCDO:0000340 "Am Fam Physician. 2000 Mar 1;61(5):1544-1550." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000259 name: Unusual Hemoglobin def: "A hemoglobin that shows characteristics of an abnormal hemoglobin, but its inheritance does not accompany any disability." [] synonym: "Unusual Hemoglobin Variant" EXACT [] is_a: SCDO:0006921 ! Hemoglobin Variant property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into NCIT below \"Hemoglobin\"/\"Hemoglobin Variant\"." xsd:string property_value: SCDO:0000340 https://www.cabdirect.org/cabdirect/abstract/19652901458 property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000260 name: Symptom Induced by Strenuous Exercise def: "Any feeling of illness or physical or mental change that results from strenuous exercise." [] xref: OMIM:MTHU024836 is_a: HP:0000118 ! Abnormal Phenotype property_value: http://purl.org/dc/elements/1.1/source http://purl.bioontology.org/ontology/OMIM/MTHU024836 property_value: http://purl.org/dc/elements/1.1/source https://dictionary.cambridge.org/dictionary/english/symptom property_value: SCDO:0000303 "Suggest update to description in OMIM (currently no description provided)." xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000261 name: Avitaminosis def: "A condition due to a deficiency of one or more essential vitamins. (Dorland, 27th ed)" [] synonym: "Vitamin Deficiencies" EXACT [] synonym: "Vitamin Deficiency" EXACT [] xref: MESH:D001361 is_a: HP:0000118 ! Abnormal Phenotype property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D001361 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000261 xsd:string [Term] id: SCDO:1000268 name: Abnormality of the Musculature def: "Abnormality originating in one or more muscles of the set of muscles in the body." [] xref: HP:0003011 is_a: HP:0000118 ! Abnormal Phenotype property_value: SCDO:0000340 HP:0003011 property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:1000276 name: Abnormal Hemoglobin Level in SCD def: "An abnormal level of hemoglobin that occurs in one or more forms of Sickle Cell Disease (SCD)." [] is_a: SCDO:1000060 ! SCD Molecular Phenotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Probably too specific to SCD be included in other ontologies." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000280 name: Transfusion Hemochromatosis def: "Hemochromatosis that results from repeated blood transfusions." [] synonym: "Transfusion Haemochromatosis" EXACT [] synonym: "Transfusion-Induced Iron Overload" EXACT [] is_a: SCDO:1000281 ! Secondary Hemochromatosis property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000281 name: Secondary Hemochromatosis def: "An acquired metabolic disorder characterized by iron accumulation in the tissues." [] is_a: NCIT:C78393 ! Iron Overload property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Suggest inclusion into existing ontology." xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000289 name: Hemoglobin D-Punjab Present def: "When the abnormal hemoglobin, hemoglobin D-Punjab (Hb D-Punjab), has been detected in a blood sample." [] synonym: "Haemoglobin D-Punjab in Blood" EXACT [] synonym: "Haemoglobin D-Punjab Present" EXACT [] synonym: "Hb D-Punjab in Blood" EXACT [] synonym: "Hb D-Punjab Present" EXACT [] synonym: "Hemoglobin D-Punjab in Blood" EXACT [] is_a: HP:0020061 ! Abnormal Hemoglobin Concentration property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000290 name: Hemoglobin G-Philadelphia Present def: "When the abnormal hemoglobin, hemoglobin G-Philadelphia (Hb G-Philadelphia), has been detected in a blood sample." [] synonym: "Haemoglobin G-Philadelphia in Blood" EXACT [] synonym: "Haemoglobin G-Philadelphia Present" EXACT [] synonym: "Hb G-Philadelphia in Blood" EXACT [] synonym: "Hb G-Philadelphia Present" EXACT [] synonym: "Hemoglobin G-Philadelphia in Blood" EXACT [] is_a: HP:0020061 ! Abnormal Hemoglobin Concentration property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000291 name: Hemoglobin O-Arab Present def: "When the abnormal hemoglobin, hemoglobin O-Arab (Hb O-Arab), has been detected in a blood sample." [] synonym: "Haemoglobin O-Arab in Blood" EXACT [] synonym: "Haemoglobin O-Arab Present" EXACT [] synonym: "Hb O-Arab in Blood" EXACT [] synonym: "Hb O-Arab Present" EXACT [] synonym: "Hemoglobin O-Arab in Blood" EXACT [] is_a: HP:0020061 ! Abnormal Hemoglobin Concentration property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000292 name: Normal Hemoglobin F Level def: "When the level of hemoglobin F detected in a sample of blood falls in the normal range for HbF." [] synonym: "Normal Haemoglobin F Level" EXACT [] synonym: "Normal HbF Level" EXACT [] synonym: "Normal Hemoglobin F Concentration" EXACT [] is_a: SCDO:1000783 ! Normal Hemoglobin Concentration property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000295 name: Quality of Life Assessment Score def: "The score obtained from a quality of life-related diagnostic instrument." [] synonym: "Quality of Life Score" EXACT [] is_a: SCDO:1000318 ! Diagnostic Instrument Measurement property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:1000296 name: ASCQ-Me Score def: "The score obtained from the Adult Sickle Cell Quality-of-Life Measurement Information System (ASCQ-Me) diagnostic instrument." [] synonym: "ASCQ-Me - Quality of Life in SCD Score" EXACT [] synonym: "Sickle Cell Disease Adult Quality of Life Questionnaire Assessment Score" EXACT [] is_a: SCDO:1000295 ! Quality of Life Assessment Score property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source http://www.phenxtoolkit.org/index.php?pageLink=browse.protocoldetails&id=820201 property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000297 name: Quality of Life and Care Diagnostic Instrument def: "A diagnostic instrument that involves an assessment of quality of life- and/or quality of care-related elements." [] is_a: SCDO:1000033 ! Diagnostic Instrument property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000298 name: Hepatitis B Virus Surface Antigen Test def: "A deteremination of the presence of hepatitis B virus surface antigen." [] comment: If a person tests “positive,” then further testing is needed to determine if this is a new “acute” infection or a “chronic” hepatitis B infection. \n\nA positive HBsAg test result means that you are infected and can spread the hepatitis B virus to others through your blood. synonym: "HBSAG Test" EXACT [] synonym: "HBsAg Test" EXACT [] synonym: "Hepatitis B Surface Antigen Test" EXACT [] synonym: "Hepatitis B Virus Surface Antigen Measurement" EXACT [] xref: NCIT:C64850 is_a: SCDO:0000616 ! Immunochemical Assay property_value: http://purl.org/dc/elements/1.1/source http://www.hepb.org/prevention-and-diagnosis/diagnosis/hbv-blood-tests/ property_value: SCDO:0000303 "Suggest update to label in NCIT (from \"Hepatitis B Virus Surface Antigen Measurement\")" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C64850&jump_to_nav=true property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:1000299 name: Hepatitis B Surface Antibody Test def: "The determination of the surface antibody reaction of a sample to the Hepatitis B virus." [] comment: http://www.hepb.org/prevention-and-diagnosis/diagnosis/hbv-blood-tests/ synonym: "anti-HBs Test" EXACT [] synonym: "HBSAB Test" EXACT [] synonym: "HBsAb Test" EXACT [] synonym: "Hepatitis B Virus Surface Antibody Test" EXACT [] xref: NCIT:C74711 is_a: SCDO:1000302 ! Hepatitis B Virus Antibody Test property_value: SCDO:0000303 "Suggest update to label in NCIT (from \"Hepatitis B Surface Antibody Measurement\")" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C74711 property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:1000300 name: Hepatitis B Core Antibody Test def: "The determination of the amount of Hepatitis B virus core antibody present in a sample." [] comment: A "positive" or "reactive" anti-HBc (or HBcAb) test result indicates a past or current hepatitis B infection. \n\nThe core antibody does not provide any protection against the hepatitis B virus (unlike the surface antibod). This test can only be fully understood by knowing the results of the HBsAg and anti-HBs tests.\n\nA positive anti-HBc (or HBcAb) test result requires talking to your health care provider for a complete explanation of your hepatitis B status. synonym: "Anti-HBc Test" EXACT [] synonym: "HBCAB Test" EXACT [] synonym: "HBcAB Test" EXACT [] synonym: "Hepatitis B Virus Core Antibody Test" EXACT [] xref: NCIT:C96660 is_a: SCDO:1000302 ! Hepatitis B Virus Antibody Test property_value: http://purl.org/dc/elements/1.1/source http://www.hepb.org/prevention-and-diagnosis/diagnosis/hbv-blood-tests/ property_value: SCDO:0000303 "Suggest update to label in nCIT (from \"Hepatitis B Virus Core Antibody Measurement\")" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C96660&jump_to_nav=true property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:1000301 name: Hepatitis B Blood Panel def: "A set of three blood tests (Hepatitis B Core Antibody Test, Hepatitis B Surface Antibody Test, and Hepatitis B Virus Surface Antigen Test) needed to fully understand whether a person is infected with Hepatitis B or not." [] synonym: "Hepatitis B Panel" EXACT [] synonym: "Hepatitis B Panel of Blood Tests" EXACT [] is_a: SCDO:0000616 ! Immunochemical Assay property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 http://www.hepb.org/prevention-and-diagnosis/diagnosis/hbv-blood-tests/ property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000302 name: Hepatitis B Virus Antibody Test def: "The determination of the amount of hepatitis B virus antibody present in a sample." [] synonym: "HBAB Test" EXACT [] synonym: "Hepatitis B Antibody Test" EXACT [] xref: NCIT:C125944 is_a: SCDO:0000616 ! Immunochemical Assay property_value: SCDO:0000303 "Suggest update to label in NCIT (from \"Hepatitis B Virus Antibody Measurement\")" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C125944 property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:1000303 name: Hepatitis B Core IgG Antibody Test def: "The determination of the amount of hepatitis B virus core IgG antibody in a biological specimen." [] synonym: "HBCIGGAB Test" EXACT [] synonym: "Hepatitis B Virus Core IgG Antibody Test" EXACT [] xref: NCIT:C119280 is_a: SCDO:1000300 ! Hepatitis B Core Antibody Test property_value: SCDO:0000303 "Suggest update to label in NCIT (from \"Hepatitis B Virus Core IgG Antibody Measurement\")" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C119280 property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:1000304 name: Hepatitis B Core IgM Antibody Test def: "The determination of the amount of Hepatitis B virus core IgM antibody present in a sample." [] synonym: "HBCIGMAB Test" EXACT [] synonym: "Hepatitis B Virus Core IgM Antibody Test" EXACT [] xref: NCIT:C96661 is_a: SCDO:1000300 ! Hepatitis B Core Antibody Test property_value: SCDO:0000303 "Suggest update to label in NCIT (from \"Hepatitis B Virus Core IgM Antibody Measurement\")" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C96661 property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:1000305 name: Pulse Oximetry (Exercise) def: "Exercise testing for evaluation of hypoxemia and/or desaturation that occurs on exertion." [] xref: phenX:91001 is_a: NCIT:C38085 ! Pulse Oximetry property_value: SCDO:0000303 "Suggest inclusion of term below \"Pulse Oximetry\" in the CMO." xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/91001 property_value: SCDO:0000479 "PhenX protocol: Pulse Oximetry (Exercise) #91001" xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000305 xsd:string [Term] id: SCDO:1000306 name: Hepatitis C Virus Antigen Test def: "The determination of the amount of hepatitis C virus antigen present in a sample." [] synonym: "HCAG Test" EXACT [] synonym: "Hepatitis C Virus Antigen Measurement" EXACT [] xref: NCIT:C116196 is_a: SCDO:0000616 ! Immunochemical Assay property_value: SCDO:0000303 "Suggest update to label in NCIT (from \"Hepatitis C Virus Antigen Measurement\"" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C116196 property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:1000307 name: Hepatitis C Antibody Test def: "A determination of the presence of the hepatitis C virus antibody in a biological specimen." [] synonym: "HCAB Test" EXACT [] synonym: "Hepatitis C Antibody Measurement" EXACT [] synonym: "Hepatitis C Virus Antibody Test" EXACT [] xref: NCIT:C92535 is_a: SCDO:0000616 ! Immunochemical Assay property_value: SCDO:0000303 "Suggest update to label and description in NCIT (from \"Hepatitis C Antibody Measurement\")" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C92535 property_value: SCDO:1000288 "Suggest update to label and description" xsd:string [Term] id: SCDO:1000308 name: Hepatitis C Virus Core Antigen Test def: "The determination of the amount of hepatitis C virus core antigen in a biological sample." [] synonym: "HCCAG Test" EXACT [] synonym: "HCV Core Antigen Measurement" EXACT [] synonym: "HCV Core Antigen Test" EXACT [] synonym: "Hepatitis C Core Antigen Test" EXACT [] synonym: "Hepatitis C Virus Core Antigen Measurement" EXACT [] xref: NCIT:C135424 is_a: SCDO:1000306 ! Hepatitis C Virus Antigen Test property_value: SCDO:0000303 "Suggest update to label in NCIT (from \"Hepatitis C Virus Core Antigen Measurement\")" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C135424&jump_to_nav=true property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:1000309 name: Hepatitis C Surface Antibody Test def: "The determination of the surface antibody reaction of a sample to the Hepatitis C virus." [] synonym: "Hepatitis C Surface Antibody Measurement" EXACT [] xref: NCIT:C74712 is_a: SCDO:1000307 ! Hepatitis C Antibody Test property_value: SCDO:0000303 "Suggest update to label in NCIT (from \"Hepatitis C Surface Antibody Measurement\")" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C74712&jump_to_nav=true property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:1000310 name: Cystatin C Blood Test def: "The determination of the amount of cystatin C present in a sample." [] synonym: "CYSTATC Blood Test" EXACT [] xref: NCIT:C92290 is_a: SCDO:0000133 ! Blood Test is_a: SCDO:0000676 ! Kidney Function Test relationship: SCDO:1000194 SCDO:0000310 ! measures Blood Cystatin C Level property_value: SCDO:0000303 "Suggest update to label in NCIT (from \"Cystatin C Measurement\")" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C92290 property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:1000313 name: Diagnostic Device Visual Output def: "The visual output that a specific diagnostic device produces." [] synonym: "Visual Output of a Diagnostic Device" EXACT [] is_a: SCDO:0000379 ! Diagnostics property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000314 name: Red Blood Cell Microparticles Assay def: "A bioassay to measure levels of red blood cell microparticles." [] is_a: SCDO:0000133 ! Blood Test relationship: SCDO:1000194 SCDO:0000975 ! measures Red Blood Cell Microparticles Level property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000315 name: Serum HDL Cholesterol Test def: "A quantitative measurement of the amount of HDL cholesterol present in a sample of serum." [] synonym: "Serum HDL Cholesterol Measurement" EXACT [] xref: NCIT:C61041 is_a: SCDO:0000133 ! Blood Test relationship: SCDO:1000194 SCDO:0001043 ! measures Serum HDL Cholesterol Level property_value: SCDO:0000303 "Suggest update to label in NCIT (from \"Serum HDL Cholesterol Measurement\")" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C61041 property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:1000316 name: Blood Flow Test def: "A technique used to measure velocity and amount of blood flow and circulation in the living system." [] is_a: SCDO:0000902 ! Physiological Assay property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000317 name: Heart Measurement def: "Any value resulting from the quantification of a morphological or physiological parameter pertaining to the heart." [] xref: CMO:0000670 is_a: CMO:0000001 ! Cardiovascular Measurement property_value: SCDO:0000303 "Suggest this description for this term in the CMO (it was recently described separately from another similar term\" but's it's definition has not yet been ascribed)." xsd:string property_value: SCDO:0000340 CMO:0000670 property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:1000318 name: Diagnostic Instrument Measurement def: "An information entity, used in the diagnosis of medical conditions, that is a recording of the output of a diagnostic instrument." [] synonym: "Diagnostic Instrument Outcome" EXACT [] is_a: SCDO:0000728 ! Diagnostic Measurement property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology\n\nAdd terms/Variables obtained from:\nHistory of Head Trauma Diagnostic Instrument" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000319 name: Cigarette Smoking Status Diagnostic Instrument def: "Questions asking the respondent about smoking status in his or her entire life." [] is_a: SCDO:1000033 ! Diagnostic Instrument property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/30604 property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000320 name: Cigarette Smoking Status Diagnostic Instrument - Adult def: "Questions asking an adult respondent about smoking status in his or her entire life." [] is_a: SCDO:1000319 ! Cigarette Smoking Status Diagnostic Instrument relationship: SCDO:1000194 SCDO:0000235 ! measures Cigarette Smoking Status property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.phenxtoolkit.org/protocols/view/30604 property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000479 "PhenX protocol: Cigarette Smoking Status - Adult #30604" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000321 name: Cigarette Smoking Status Diagnostic Instrument - Adolescent def: "Questions asking an adolescentt respondent about smoking status in his or her entire life." [] is_a: SCDO:1000319 ! Cigarette Smoking Status Diagnostic Instrument relationship: SCDO:1000194 SCDO:0000235 ! measures Cigarette Smoking Status property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.phenxtoolkit.org/protocols/view/30603 property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:0000479 "PhenX protocol: Cigarette Smoking Status - Adolescent #30603" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000322 name: Never Smoker def: "A person who has never smoked a cigarette, not even one or two puffs." [] is_a: SCDO:0000235 ! Cigarette Smoking Status property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.phenxtoolkit.org/protocols/view/30604 property_value: SCDO:0000303 "Other ontologies define this as \"A person who was not smoking at the time of the interview and has smoked less than 100 cigarettes in their life.\"" xsd:string property_value: SCDO:1000288 "Not relevant to context of sickle cell" xsd:string [Term] id: SCDO:1000323 name: Current Every-Day Smoker def: "A person who was smoking on a daily basis at the time of the interview." [] is_a: SCDO:0000235 ! Cigarette Smoking Status property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.phenxtoolkit.org/protocols/view/30604 property_value: SCDO:0000303 "Other ontologies define this as \"Indicates a person who has smoked at least 100 cigarettes in his or her lifetime and who currently smokes every day.\"" xsd:string property_value: SCDO:1000288 "Not relevant to context of sickle cell" xsd:string [Term] id: SCDO:1000324 name: Current Some-Day Smoker def: "A person who had smoked a cigarette in the past, and was smoking on some days, but not daily, at the time of the interview." [] is_a: SCDO:0000235 ! Cigarette Smoking Status property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.phenxtoolkit.org/protocols/view/30604 property_value: SCDO:0000303 "Other ontologies define this as \"Indicates a person who has smoked at least 100 cigarettes in his or her lifetime, who smokes now, but does not smoke every day.\"" xsd:string property_value: SCDO:1000288 "Not relevant to context of sickle cell" xsd:string [Term] id: SCDO:1000325 name: Former Smoker def: "A person who was not smoking at the time of the interview but has smoked a cigarette in the past, even if just one or two puffs" [] is_a: SCDO:0000235 ! Cigarette Smoking Status property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.phenxtoolkit.org/protocols/view/30604 property_value: SCDO:0000303 "Other ontologies define this as \"A person who was not smoking at the time of the interview but has smoked at least 100 cigarettes in their life.\"" xsd:string property_value: SCDO:1000288 "Not relevant to context of sickle cell" xsd:string [Term] id: SCDO:1000326 name: Ever-Smoker def: "A person who has smoked a cigarette in the past, even if just one or two puffs, but was unable to or refused to answer when asked when the last time was that they smoked a cigarette, even one or two puffs." [] is_a: SCDO:0000235 ! Cigarette Smoking Status property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.phenxtoolkit.org/protocols/view/30603 property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000327 name: Past 30-Day Smoker def: "A person who had smoked in the past 30 days at the time of the interview, but who had not smoked every day of the past 30 days." [] is_a: SCDO:0000235 ! Cigarette Smoking Status property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.phenxtoolkit.org/protocols/view/30603 property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000328 name: Past 30-Day Every-Day Smoker def: "A person who had smoked every day of the past 30 days at the time of the interview." [] is_a: SCDO:0000235 ! Cigarette Smoking Status property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.phenxtoolkit.org/protocols/view/30603 property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000329 name: Alcohol - Lifetime Use Diagnostic Instrument def: "Question asking the respondent if s/he has ever consumed any alcoholic beverage during his or her entire life." [] xref: phenX:030100 is_a: SCDO:1000474 ! Clinical or Research Assessment Data Element relationship: SCDO:1000194 SCDO:0000038 ! measures Alcohol - Lifetime Use property_value: SCDO:0000303 "Suggest update to label in PhenX" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/PHENX?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FphenX%2F030100 property_value: SCDO:0000479 "PhenX protocol: #30101" xsd:string property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:1000330 name: Epilepsy Screener - Adult def: "A nine-item, interviewer-administered questionnaire to screen for the presence of epilepsy in adults." [] synonym: "Epilepsy Screener for Adults" EXACT [] xref: phenX:130401 is_a: SCDO:0000440 ! Epilepsy Screener property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into \"PhenX Phenotypic Terms\".\nThis is in the PhenX toolkit but not in the ontology in BioPortal. It should probably be included there." xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/130401 property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000331 name: Epilepsy Screener - Child/Proxy def: "A nine-item, interviewer-administered questionnaire to screen for the presence of epilepsy in family members, including children and those who are deceased." [] synonym: "Family History of Epilepsy Screening Interview" EXACT [] synonym: "Ottman Brief Epilepsy Screener - Proxy-reported Version" EXACT [] xref: phenX:130402 is_a: SCDO:0000440 ! Epilepsy Screener property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into \"PhenX Phenotypic Terms\".\nThis is in the PhenX toolkit but not in the ontology in BioPortal. It should probably be included there." xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/130402 property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000332 name: Executive Dysfunction def: "A disruption to the efficacy of the executive functions, which is a group of cognitive processes that regulate, control, and manage other cognitive processes." [] synonym: "Defects in Executive Function" EXACT [] synonym: "Executive Function Deficit" EXACT [] is_a: HP:0000708 ! Behavioural Abnormality relationship: SCDO:0000663 SCDO:0001304 ! diagnosed using tool Executive Function Measure property_value: SCDO:0000303 "Request inclusion into relevant ontology. Perhaps below \"Behavioral Abnormality\" in the HPO." xsd:string property_value: SCDO:0000340 Executive:dysfunction property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000333 name: Global Mental Status Screener - Child def: "A series of 21 age-specific questionnaires and scoring sheets designed to screen a child's skills in five developmental areas: fine motor, gross motor, problem solving, communication, and personal-social. A child's scores for each area are compared to cut-off scores to determine a need for monitoring or further assessment." [] synonym: "The Ages & Stages Questionnaires, Third Edition (ASQ-3)" EXACT [] is_a: SCDO:0000455 ! Global Mental Status Screener property_value: SCDO:0000303 "Request inclusion into relevant ontology. Maybe below \"Clinical or Research Assessment Questionnaire\" in the NCIT." xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/130702 property_value: SCDO:0000479 "Global Mental Status Screener - Child #130702" xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000336 name: Frequency of Sickle Cell Pain Episodes def: "The frequency of acute pain episodes due to sickle cell disease (SCD)." [] is_a: SCDO:1000318 ! Diagnostic Instrument Measurement relationship: SCDO:1000190 SCDO:0000725 ! obtained via diagnostic tool Measure of Frequency of Sickle Cell Pain Episodes property_value: SCDO:0000303 "Request inclusion into relevant ontology\n\nAdd as sub-classes: (from protocol questions)\n- a term for the number of times an emergency room was visited because of a sickle cell painful event in the last 6 months\n- a term for the number of times the person was admitted to a hospital because of a sickle cell painful event in the last 12 months" xsd:string property_value: SCDO:1000288 "Not relevant to context of sickle cell. This term in PhenX currently refers to a diagnostic instrument." xsd:string [Term] id: SCDO:1000337 name: Substances - Lifetime Use Diagnostic Instrument def: "Questions from the National Epidemiologic Survey on Alcohol and Related Conditions-III (NESARC-III) related to their lifetime use of illicit and prescribed substances." [] is_a: NCIT:C91105 ! Clinical or Research Assessment Questionnaire is_a: SCDO:1000033 ! Diagnostic Instrument relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age relationship: SCDO:1000194 SCDO:0001121 ! measures Substances - Lifetime Use property_value: SCDO:0000303 "Suggest update to label in PhenX" xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/31102 property_value: SCDO:0000479 "PhenX protocol: Substances - Lifetime Use #31102" xsd:string property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:1000338 name: Sleep Disorders Screener - Children def: "A 26-item, self-administered scale completed by the parent that assesses the child's sleep behaviors in the past 6 months. The scale includes six subscales: disorders of initiating and maintaining sleep (items 1, 2, 3, 4, 5, 10, 11); sleep breathing disorders (items 13, 14, 15); disorders of arousal (items 17, 20, 21); sleep-wake transition disorders (items 6, 7, 8, 12, 18, 19); disorders of excessive somnolence (items 22, 23, 24, 25, 26); and sleep hyperhidrosis (score of the items 9, 16). Each item is rated on a 5-point, Likert-type scale (1 = Never; 5 = Always [daily]). Scores from individual items of each subscale are added together to give a subscale score, with higher scores indicating greater symptoms. Scores from the individual subscales can be added together to give a total score." [] synonym: "Sleep Disturbances Scale for Children" EXACT [] xref: phenX:121002 is_a: SCDO:1000348 ! Sleep Disorders Screener property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology. \nSeparate adult vs children instruments not shown in \"PhenX Phenotypic Terms\"." xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/121002 property_value: SCDO:0000479 "PhenX protocol: Sleep Disorders Screener - Children #121002" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000339 name: History of Head Trauma def: "A record of an individual's background in regard to head trauma." [] is_a: NCIT:C18772 ! Personal Medical History property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology. Perhaps as a sub-class of \"History of Trauma\" in \"The Stroke Ontology\"?\n\nPhenX uses this as their label for a questionnaire, but we're going to suggest they change that. Otherwise, don't see it in other ontologies." xsd:string property_value: SCDO:1000288 "Not relevant to context of sickle cell" xsd:string [Term] id: SCDO:1000340 name: History of Stroke def: "A record of an individual's history of stroke(s) and associated symptoms such as slurred speech, double vision, loss of vision, and paralysis." [] is_a: NCIT:C18772 ! Personal Medical History property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into NCIT below \"Personal Medical History\". Note: Is present in The Stroke Ontology." xsd:string property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000341 name: History of Kidney Failure def: "A record of an individual's history of kidney failure." [] is_a: NCIT:C18772 ! Personal Medical History property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into NCIT as a sub-class of \"Personal Medical History\".\n\nPhenX uses this as their label for a questionnaire, but we're going to suggest they change that. Otherwise, don't see it in other ontologies." xsd:string property_value: SCDO:1000288 "Not relevant to context of sickle cell" xsd:string [Term] id: SCDO:1000342 name: History of Transfusion Diagnostic Instrument def: "A questionnaire to assess history of transfusion." [] xref: phenX:830200 is_a: NCIT:C91105 ! Clinical or Research Assessment Questionnaire is_a: SCDO:1000033 ! Diagnostic Instrument relationship: SCDO:0001297 NCIT:C17357 ! has essential measure Gender relationship: SCDO:0001297 SCDO:0000304 ! has essential measure Current Age property_value: SCDO:0000303 "Suggest update to label as we have done. We are using \"History of Transfusion\" below Personal Attribute." xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/PHENX?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FphenX%2F830200 property_value: SCDO:0000479 "PhenX protocol: History of Transfusion #830201" xsd:string property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:1000343 name: History of Type 1 and Type 2 Diabetes def: "A record of an individual's history of type 1 and type 2 diabetes." [] is_a: NCIT:C18772 ! Personal Medical History property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into NCIT as a sub-class of \"Personal Medical History\".\n\nPhenX uses this as their label for a questionnaire, but we're going to suggest they change that. Otherwise, don't see it in other ontologies." xsd:string property_value: SCDO:1000288 "Not relevant to context of sickle cell" xsd:string [Term] id: SCDO:1000344 name: Reproductive History Diagnostic Instrument - Male def: "A questionnaire to assess males' pregnancy history." [] is_a: SCDO:0000987 ! Reproductive History Diagnostic Instrument property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.phenxtoolkit.org/protocols/view/101302 property_value: SCDO:0000303 "Suggest update to label and description in PhenX as we have done. We are using \"Reproductive History\" below Personal Attribute." xsd:string property_value: SCDO:0000479 "PhenX protocol: Reproductive History - Male #101302" xsd:string property_value: SCDO:1000288 "Suggest update to label and description." xsd:string [Term] id: SCDO:1000345 name: Reproductive History Diagnostic Instrument - Female def: "A questionnaire to assess females' pregnancy history." [] is_a: SCDO:0000987 ! Reproductive History Diagnostic Instrument property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.phenxtoolkit.org/protocols/view/101301 property_value: SCDO:0000303 "Suggest update to label and description in PhenX as we have done. We are using \"Reproductive History\" below Personal Attribute." xsd:string property_value: SCDO:0000479 "PhenX protocol: Reproductive History - Female #101301" xsd:string property_value: SCDO:1000288 "Suggest update to label and description." xsd:string [Term] id: SCDO:1000348 name: Sleep Disorders Screener def: "A questionnaire to assess sleep disorders, a broad group of disorders that can be caused by endogenous disturbances in the sleep-wake or timing cycles (American Psychiatric Association, 2000)." [] xref: phenX:121000 is_a: NCIT:C91105 ! Clinical or Research Assessment Questionnaire is_a: SCDO:1000033 ! Diagnostic Instrument property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/PHENX/?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FphenX%2F121000&jump_to_nav=true property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000348 xsd:string [Term] id: SCDO:1000350 name: Heart Valve Function Test def: "A test to assess the structure and function of the heart valves." [] xref: phenX:40501 is_a: SCDO:0000500 ! Heart Function Test relationship: SCDO:1000194 SCDO:0000502 ! measures Heart Valve Measurement property_value: SCDO:0000303 "Suggest update to label in PhenX (from \"Heart Valve Function\")" xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/40501 property_value: SCDO:0000479 "PhenX protocol: Heart Valve Function #40501" xsd:string property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:1000352 name: Spirometry - Adult def: "Measurement of the breathing capacity of an adult's lung by means of a spirometer." [] is_a: NCIT:C85397 ! Spirometry property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.phenxtoolkit.org/protocols/view/91601 property_value: SCDO:0000303 "Suggest update to description in PhenX (currently the same for both adult and child protocols)" xsd:string property_value: SCDO:0000479 "PhenX protocol: Spirometry - Adult #91601" xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:1000353 name: Spirometry - Child def: "Measurement of the breathing capacity of a child's lung by means of a spirometer." [] is_a: NCIT:C85397 ! Spirometry property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.phenxtoolkit.org/protocols/view/91602 property_value: SCDO:0000303 "Suggest update to description in PhenX (currently the same for both adult and child protocols)" xsd:string property_value: SCDO:0000479 "PhenX protocol: Spirometry - Child #91602" xsd:string property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:1000354 name: Health Risk Behavior def: "Pattern of behavior which predisposes certain individuals to increased risk for contracting disease or sustaining personal injury. These behaviors may cluster into a risky lifestyle." [] synonym: "Health Risk Behaviors" EXACT [] synonym: "Risky Health Behavior" EXACT [] synonym: "Risky Health Behaviors" EXACT [] xref: MESH:D000073599 is_a: SCDO:0000487 ! Health Behaviour property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D000073599 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000354 xsd:string [Term] id: SCDO:1000355 name: Health Facility Environment def: "Physical surroundings or conditions of a hospital or other health facility and influence of these factors on patients and staff." [] xref: MESH:D006272 is_a: ExO:0000048 ! Built Environment property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D006272 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000355 xsd:string [Term] id: SCDO:1000356 name: Altitude def: "Height above sea level or above the earth's surface." [] xref: CSP:1035-6505 is_a: SCDO:0000897 ! Physical Environment property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/CRISP/?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1035-6505&jump_to_nav=true property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000356 xsd:string [Term] id: SCDO:1000357 name: Self Reported Educational Attainment def: "A measure of educational progress reported using a questionnaire based approach, often used as a proxy for cognitive performance as the two are correlated." [] xref: EFO:0004784 is_a: SCDO:0000305 ! Current Educational Attainment property_value: SCDO:0000340 http://www.ebi.ac.uk/efo/EFO:0004784 property_value: SCDO:0000479 "PhenX protocol: Current Educational Attainment #11001" xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000357 xsd:string [Term] id: SCDO:1000360 name: Globin Gene def: "A gene that encodes one of the globin family proteins, which are globular heme-containing proteins and include androglobin, cryoglobin, hemoglobin subunits, myoglobin and neuroglobin." [] synonym: "Globin Gene Family" EXACT [] synonym: "Globin Genes" EXACT [] xref: NCIT:C142196 is_a: NCIT:C16612 ! Gene property_value: SCDO:0000303 "Suggest update to description in NCIT." xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C142196 property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:1000361 name: Alpha-Globin Gene def: "A gene that provides instructions for making a protein called alpha-globin." [] is_a: SCDO:1000360 ! Globin Gene property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:1000362 name: Beta-Globin Gene def: "A gene located in the beta-globin locus (or gene cluster) on chromosome 11." [] is_a: SCDO:1000360 ! Globin Gene property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Include sub-classes?:\nHBE1 (encodes hemoglobin subunit epsilon)\nHBG1\nHBG2\nHBM\nHBQ1\nHBZ" xsd:string property_value: SCDO:0000303 "Should this perhaps rather be something like \"Beta-Globin Locus Gene\"? To prevent confusion with the HBB Gene.\n\nRequest inclusion into relevant ontology." xsd:string property_value: SCDO:1000288 "Negligable" xsd:string [Term] id: SCDO:1000363 name: Hemoglobin Subunit Zeta def: "A member of the alpha-globin family. In humans, it is encoded in the alpha-globin gene cluster or locus, located on chromosome 16. Two hemoglobin subunit zeta chains combine with two hemoglobin subunit epsilon chains to form the embryonic Hemoglobin Gower 1." [] synonym: "Haemoglobin Subunit Zeta" EXACT [] synonym: "Haemoglobin Zeta Chain" EXACT [] synonym: "HBAZ" EXACT [] synonym: "Hemoglobin Zeta Chain" EXACT [] synonym: "Zeta Globin" EXACT [] synonym: "Zeta-Globin" EXACT [] xref: MESH:D055543 is_a: SCDO:1000105 ! Alpha-Globin Family Members property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D055543 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000363 xsd:string [Term] id: SCDO:1000364 name: Hemoglobin A2 def: "An adult hemoglobin component normally present in hemolysates from human erythrocytes in concentrations of about 3%. The hemoglobin is composed of two alpha chains and two delta chains. The percentage of HbA2 varies in some hematologic disorders, but is about double in beta-thalassemia." [] synonym: "A2, Hemoglobin" EXACT [] synonym: "alpha2delta2" EXACT [] synonym: "HbA2" EXACT [] synonym: "Normal Variant of Hemoglobin A" EXACT [] xref: MESH:D006443 is_a: SCDO:0006835 ! Normal Hemoglobin property_value: SCDO:0000303 "Request inclusion into NCIT below \"Hemoglobin\"/\"Normal Hemoglobin\"." xsd:string property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D006443 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000364 xsd:string [Term] id: SCDO:1000366 name: Delta Beta Thalassemia Mutation def: "A mutation that contributes to decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis." [] synonym: "Delta Beta Thalassaemia Mutation" EXACT [] is_a: SCDO:0009731 ! Beta Thalassemia Mutation property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000371 name: Prenatal Maternal Abnormality def: "A health abnormality in a woman during pregnancy." [] synonym: "Maternal Health Problem" EXACT [] xref: HP:0002686 is_a: HP:0001197 ! Abnormality of Prenatal Development or Birth property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Suggest update to description in HP. Currently no description." xsd:string property_value: SCDO:0000340 HP:0002686 property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:1000376 name: Osteonecrosis of the Humeral Head def: "In situ death of bone within the humeral head due to disruption of blood supply." [] synonym: "Aseptic Necrosis of the Humeral Head" EXACT [] synonym: "Avascular Necrosis of the Humeral Head" EXACT [] is_a: HP:0010885 ! Osteonecrosis relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into NCIT as sub-class of \"Avascular Necrosis of Humerus\"." xsd:string property_value: SCDO:0000340 http://www.wheelessonline.com/ortho/Humeral_Head_Osteonecrosis property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000379 name: Culturally Competent Care def: "Health care services that are respectful of and responsive to the health beliefs, practices and cultural and linguistic needs of diverse patients. The provider and the patient each bring their individual learned patterns of language and culture to the health care experience which must be transcended to achieve equal access and quality health care." [] synonym: "Care, Culturally Congruent" EXACT [] synonym: "Culturally Congruent Care" EXACT [] xref: MESH:D065246 is_a: SCDO:0000246 ! Clinical Competence property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D065246 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000379 xsd:string [Term] id: SCDO:1000383 name: Renal Complication def: "Any kidney disorder occurring as a consequence of injury to the kidney." [] synonym: "Kidney Complication" EXACT [] is_a: NCIT:C2959 ! Complication property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000392 name: Sp1 Transcription Factor def: "Promoter-specific RNA polymerase II transcription factor that binds to the GC box, one of the upstream promoter elements, in mammalian cells. The binding of Sp1 is necessary for the initiation of transcription in the promoters of a variety of cellular and viral GENES." [] synonym: "Transcription Factor, Sp1" EXACT [] xref: MESH:D016329 is_a: NCIT:C26548 ! Gene Product property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D016329 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000392 xsd:string [Term] id: SCDO:1000394 name: Gene Component def: "A gene component is a component of a gene." [] xref: SIO:010444 is_a: SCDO:0005722 ! Genetic Structure property_value: SCDO:0000340 SIO:010444 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000394 xsd:string [Term] id: SCDO:1000395 name: Gene Regulatory Component def: "A gene regulatory component is a gene component that exerts a regulatory function." [] xref: SIO:010085 is_a: SCDO:1000394 ! Gene Component property_value: SCDO:0000340 SIO:010085 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000395 xsd:string [Term] id: SCDO:1000396 name: Gene Enhancer def: "A gene enhancer is a short region of DNA that can be bound with proteins to enhance transcription levels of genes in a gene cluster." [] xref: SIO:010086 is_a: SCDO:1000395 ! Gene Regulatory Component property_value: SCDO:0000340 SIO:010086 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000396 xsd:string [Term] id: SCDO:1000397 name: Gene Promoter def: "A gene promoter is a region of DNA that initiates transcription of a particular gene." [] xref: SIO:010446 is_a: SCDO:1000395 ! Gene Regulatory Component property_value: SCDO:0000340 SIO:010446 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000397 xsd:string [Term] id: SCDO:1000398 name: BCL11A Erythroid Enhancer synonym: "Erythroid Specific Enhancer of Bcl11A" EXACT [] is_a: SCDO:1000396 ! Gene Enhancer property_value: http://purl.org/dc/elements/1.1/source https://ash.confex.com/ash/2015/webprogramscheduler/Paper83338.html property_value: http://purl.org/dc/elements/1.1/source https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6120587/ property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000401 name: Data Descriptor def: "A characteristic that further describes the nature of data." [] is_a: SCDO:0006339 ! Research property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000402 name: Journal Article def: "The predominant publication type for articles and other items indexed for NLM databases." [] xref: MESH:D016428 is_a: SCDO:0300003 ! Publication Formats property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D016428 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000402 xsd:string [Term] id: SCDO:1000406 name: Data Sharing Descriptor def: "A characteristic or directive that further describes the nature of data sharing." [] is_a: SCDO:0006339 ! Research property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000408 name: Data Use Requirements def: "Requirements indicate additional conditions set for use of data." [] xref: DUO:0000017 is_a: SCDO:0006339 ! Research property_value: SCDO:0000303 "Suggest update to description in DUO" xsd:string property_value: SCDO:0000340 DUO:0000017 property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:1000421 name: Participant Feedback Policy def: "The standard method of providing feedback to study participants regarding their information (data, biological samples, genetic material) that has been shared." [] synonym: "Policy for Feedback to Participant" EXACT [] synonym: "Policy for Returning Results" EXACT [] synonym: "Policy for Returning Results to Participant" EXACT [] is_a: SCDO:1000422 ! Basic Element of a Consent Form is_a: SCDO:1000424 ! Study Policy property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000422 name: Basic Element of a Consent Form def: "An element or information entity that is required to be provided in consent forms." [] is_a: SCDO:0007597 ! Descriptor of Consent property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000423 name: Participant Withdrawal Policy def: "The policy regarding participants' right to withdraw their participation in a study." [] is_a: SCDO:1000422 ! Basic Element of a Consent Form is_a: SCDO:1000424 ! Study Policy property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000424 name: Study Policy def: "A course or principle of action adopted or proposed by a study." [] is_a: SCDO:0300005 ! Research Characteristics property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000425 name: Study Focus Statement def: "A statement of what the key investigational purpose of the study is." [] is_a: SCDO:1000422 ! Basic Element of a Consent Form property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000426 name: Communicable Disease - Report by Law Statement def: "A statement about how the researcher is obligated by law to report if the participant is found to have a communicable disease." [] is_a: SCDO:1000422 ! Basic Element of a Consent Form property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000429 name: Medical Ethics def: "The principles of professional conduct concerning the rights and duties of the physician, relations with patients and fellow practitioners, as well as actions of the physician in patient care and interpersonal relations with patient families." [] xref: MESH:D004992 is_a: SCDO:0006706 ! Bioethics property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D004992 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000429 xsd:string [Term] id: SCDO:1000430 name: Ethics Related Concept def: "Concepts related to ethics, excluding types of ethics." [] is_a: SCDO:0006339 ! Research property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000431 name: Intestinal Fatty-Acid Binding Protein def: "A protein expressed in enterocytes of the small intestine and released into the systemic circulation when there is intestinal damage. This protein plays a role in binding to saturated long-chain fatty acids with a high affinity and to unsaturated long-chain fatty acids with less affinity." [] synonym: "FABPI" EXACT [] synonym: "Fatty Acid-Binding Protein, Intestinal" EXACT [] synonym: "I-FABP" EXACT [] synonym: "iFABP" EXACT [] synonym: "Intestinal-Type Fatty Acid-Binding Protein" EXACT [] xref: NCIT:C29616 is_a: NCIT:C26548 ! Gene Product property_value: http://purl.org/dc/elements/1.1/source https://www.ncbi.nlm.nih.gov/pubmed/31146745 property_value: SCDO:0000303 "Suggest update to description in NCIT" xsd:string property_value: SCDO:0000340 http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C29616 property_value: SCDO:0000340 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6543649/ property_value: SCDO:1000288 "Few but definitions not specific enough" xsd:string [Term] id: SCDO:1000432 name: Serum iFABP Level def: "The level of intestinal fatty-acid binding protein in the systemic circulation (serum)." [] comment: Measured in ng/ml synonym: "Serum Intestinal Fatty-Acid Binding Protein Level" EXACT [] is_a: CMO:0000023 ! Blood Chemistry Measurement property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6543649/ property_value: SCDO:0000486 "Used to provide the evidence for intestinal injury due to VOC affecting the splanchnic vasculature." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000433 name: Intestinal Injury def: "Damage inflicted on the intestine." [] synonym: "Intestinal Damage" EXACT [] is_a: HP:0025031 ! Abnormality of the Digestive System is_a: NCIT:C3671 ! Injury property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.ncbi.nlm.nih.gov/pubmed/31146745 property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000436 name: Hypoxia-Reperfusion Injury def: "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the tissue (reperfusion), including swelling; hemorrhage; necrosis; and damage from free radicals. The most common instance is myocardial reperfusion injury." [] synonym: "Hypoxia-Reoxygenation Injury" EXACT [] synonym: "Hypoxia/Reperfusion Injury" EXACT [] synonym: "IRI" EXACT [] synonym: "Ischaemia Reperfusion Injury" EXACT [] synonym: "Ischemia Reperfusion Injury" EXACT [] synonym: "Reoxygenation Injury" EXACT [] xref: EFO:0002687 is_a: NCIT:C3671 ! Injury property_value: http://purl.org/dc/elements/1.1/source https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6543649/ property_value: SCDO:0000340 EFO:0002687 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000436 xsd:string [Term] id: SCDO:1000439 name: Elevated Serum iFABP Level def: "An increased circulating blood concentration of the intestinal fatty-acid binding protein." [] comment: Significantly high serum iFABP levels is evidence of intestinal injury. is_a: HP:0010876 ! Abnormal Circulating Protein Level property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6543649/ property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000444 name: Serum L-Selectin Level def: "The level of L-selectin in the systemic circulation (serum)." [] synonym: "Serum CD62L Level" EXACT [] synonym: "Soluble CD62L" EXACT [] is_a: CMO:0000023 ! Blood Chemistry Measurement property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000445 name: Aged Neutrophil Count def: "The number of aged neutrophils in a specified volume of blood, usually 1 cubic millimeter." [] synonym: "Activated Neutrophil Count" EXACT [] is_a: CMO:0000030 ! Blood Neutrophil Count property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6543649/ property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000448 name: Adjunct Analgesic Agent def: "A medication that is typically used for indications other than pain control but provides control of pain in some painful diseases." [] synonym: "Adjuvant Analgesic Agent" EXACT [] is_a: SCDO:0001133 ! Symptomatic Therapeutics property_value: http://purl.org/dc/elements/1.1/source Analgesic:adjuvant property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000449 name: Low-Dose Ketamine Infusion def: "An infusion of ketamine at a low dose (up to 5 µg/kg/min)." [] comment: Low-dose ketamine infusion may be considered as an adjunct analgesic agent in patients with vaso-occlusive episodes who report continued severe pain despite high-dose opioid therapy, particularly those experiencing opioid-induced adverse effects. is_a: SCDO:1000448 ! Adjunct Analgesic Agent property_value: http://purl.org/dc/elements/1.1/source https://www.ncbi.nlm.nih.gov/pubmed/29791238 property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000452 name: Cancer Pain def: "Pain that may be caused by or related to cellular, tissue, and systemic changes that occur during neoplasm growth, tissue invasion, and metastasis." [] synonym: "Cancer-Related Pain" EXACT [] synonym: "Pains, Neoplasm-Related" EXACT [] xref: MESH:D000072716 is_a: SCDO:0000851 ! Pain property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D000072716 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000452 xsd:string [Term] id: SCDO:1000455 name: Calculated Current Age (Years) def: "The current age of a patient, calculated using the current date and the patient's date of birth and provided in years." [] synonym: "Calculated Current Age in Years" EXACT [] is_a: SCDO:1000527 ! Calculated Current Age property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000457 name: Temporal Consent Concept def: "A type of consent that includes an aspect of timing (i.e. an indication of when consent was acquired)." [] is_a: NCIT:C25460 ! Consent property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into ICO below \"Informed Consent\"." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000458 name: Prospective Consent def: "Consent given prior to enrollment." [] is_a: SCDO:1000457 ! Temporal Consent Concept property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into the Informed Consent Ontology." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000459 name: Deferred Consent def: "Consent that is taken later after enrollment into study especially in emergency situations." [] is_a: SCDO:1000457 ! Temporal Consent Concept property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Victoria Nembaware)" xsd:string property_value: SCDO:0000303 "Request inclusion into the Informed Consent Ontology." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000460 name: Prospective Informed Consent def: "Informed consent given prior to enrollment." [] is_a: SCDO:0007087 ! Informed Consent is_a: SCDO:1000458 ! Prospective Consent property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Victoria Nembaware)" xsd:string property_value: SCDO:0000303 "Request inclusion into ICO below \"Informed Consent\"." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000461 name: Waived Consent def: "Consent obtained at a population level through public/community engagement where individual consenting is not feasible. This is normally done for low risk studies and/or in case of emergencies." [] is_a: NCIT:C25460 ! Consent property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Victoria Nembaware)" xsd:string property_value: SCDO:0000303 "Request inclusion into the Informed Consent Ontology." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000462 name: Research Ethics Committee Decision def: "A decision made by a research ethics committee." [] is_a: SCDO:1000430 ! Ethics Related Concept property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into the Informed Consent Ontology." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000463 name: Approval of Ethics def: "When a research ethics committee approves a study's application for approval of their proposed research." [] is_a: SCDO:1000462 ! Research Ethics Committee Decision property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into the Informed Consent Ontology." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000464 name: Disapproval of Ethics def: "When a research ethics committee declines a study's application for approval of their proposed research." [] is_a: SCDO:1000462 ! Research Ethics Committee Decision property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into the Informed Consent Ontology." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000465 name: Mode of Providing Consent def: "A method in which a patient or their legal representative provides consent." [] is_a: SCDO:0007597 ! Descriptor of Consent property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into the Informed Consent Ontology." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000466 name: Written Consent def: "When the participant or a legal representative or family member provides consent by filling out and/or signing a written form." [] is_a: SCDO:1000465 ! Mode of Providing Consent property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into the Informed Consent Ontology." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000467 name: Verbal Consent def: "When the participant communicates consent orally rather than by filling out and signing a written form. Normally a witness is present when verbal consent is given." [] is_a: SCDO:1000465 ! Mode of Providing Consent property_value: http://purl.org/dc/elements/1.1/creator "SCDO" xsd:string property_value: SCDO:0000303 "Request inclusion into the Informed Consent Ontology." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000470 name: SickleInAfrica Participant Number def: "A unique identifier assigned to a study participant's data when it is registered in the SickleInAfrica data registry." [] is_a: NCIT:C69256 ! Subject Unique Identifier property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000471 name: Country of Data Collection def: "The name of the country where the sample or data was collected." [] xref: FLU:0000831 is_a: SCDO:1000401 ! Data Descriptor property_value: SCDO:0000340 FLU:0000831 property_value: SCDO:1000288 "Few but definitions not specific enough" xsd:string [Term] id: SCDO:1000472 name: Data Standards def: "The rules by which data are described and recorded." [] is_a: SCDO:0001000 ! SCDO property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000340 https://www.usgs.gov/products/data-and-tools/data-management/data-standards property_value: SCDO:1000288 "Not relevant to context of sickle cell" xsd:string [Term] id: SCDO:1000474 name: Clinical or Research Assessment Data Element def: "A data element used to capture or facilitate the capture of data in a clinical or research assessment." [] is_a: SCDO:1000472 ! Data Standards property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000475 name: Clinical or Research Assessment Question Type def: "A type of question pertaining to a clinical or research assessment data element." [] is_a: SCDO:1000472 ! Data Standards property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000477 name: deprecated Field Type is_a: SCDO:0000359 ! deprecated terms is_obsolete: true [Term] id: SCDO:1000479 name: deprecated Calculation Field Type is_a: SCDO:1000477 ! deprecated Field Type is_obsolete: true [Term] id: SCDO:1000480 name: deprecated Checkbox Field Type is_a: SCDO:1000477 ! deprecated Field Type is_obsolete: true [Term] id: SCDO:1000481 name: deprecated Descriptive Field Type is_a: SCDO:1000477 ! deprecated Field Type is_obsolete: true [Term] id: SCDO:1000482 name: deprecated Dropdown Field Type is_a: SCDO:1000477 ! deprecated Field Type is_obsolete: true [Term] id: SCDO:1000483 name: deprecated Dropdown Multiple Choice Field Type is_a: SCDO:1000477 ! deprecated Field Type is_obsolete: true [Term] id: SCDO:1000484 name: deprecated Dropdown Single Choice Field Type is_a: SCDO:1000477 ! deprecated Field Type is_obsolete: true [Term] id: SCDO:1000485 name: deprecated File Upload Field Type is_a: SCDO:1000477 ! deprecated Field Type is_obsolete: true [Term] id: SCDO:1000486 name: deprecated Radio Field Type is_a: SCDO:1000477 ! deprecated Field Type is_obsolete: true [Term] id: SCDO:1000487 name: deprecated Text Box Field Type is_a: SCDO:1000477 ! deprecated Field Type is_obsolete: true [Term] id: SCDO:1000488 name: deprecated Notes Box Field Type is_a: SCDO:1000477 ! deprecated Field Type is_obsolete: true [Term] id: SCDO:1000489 name: deprecated Slider - Visual Analog Scale is_a: SCDO:1000477 ! deprecated Field Type is_obsolete: true [Term] id: SCDO:1000490 name: Consent Status def: "The situation, with regard to obtaining consent from a respondent, at a particular stage during a process." [] is_a: SCDO:0007597 ! Descriptor of Consent property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000492 name: Close-Ended Question def: "A question that provides the respondent with specific answer options to choose from." [] is_a: SCDO:1000475 ! Clinical or Research Assessment Question Type property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000493 name: Open-Ended Question def: "A question that allows the respondent to give their own answer instead of selecting an answer from answer options." [] is_a: SCDO:1000475 ! Clinical or Research Assessment Question Type property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000494 name: Dichotomous Question def: "A close-ended question that provides two possible answers." [] is_a: SCDO:1000492 ! Close-Ended Question property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000340 dichotomous:question property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000495 name: Multiple Choice Multiple Selection Question def: "A close-ended question that provides multiple answers for respondents to select from and allows for the selection of multiple options." [] is_a: SCDO:1000492 ! Close-Ended Question property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000496 name: Multiple Choice Single Selection Question def: "A close-ended question that provides multiple answers for respondents to select from but allows for the selection of only one option." [] is_a: SCDO:1000492 ! Close-Ended Question property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000497 name: True-False Question def: "A dichotomous question that has answer options \"true\" and \"false\"." [] is_a: SCDO:1000494 ! Dichotomous Question property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000498 name: Yes-No Question def: "A dichotomous question that has answer options \"yes\" and \"no\"." [] is_a: SCDO:1000494 ! Dichotomous Question property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000501 name: Open-Ended Question - Restricted def: "A open ended question that restricts the nature of the text answer that can be provided by the respondent." [] is_a: SCDO:1000493 ! Open-Ended Question property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000502 name: Open-Ended Question - Free Text def: "A open ended question that allows the respondent to respond in free text, without any restrictions on the nature of the text answer provided." [] is_a: SCDO:1000493 ! Open-Ended Question property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000508 name: SickleInAfrica Data Element def: "A data element in a SickleInAfrica data capture instrument." [] synonym: "SickleInAfrica DE" EXACT [] is_a: SCDO:1000474 ! Clinical or Research Assessment Data Element property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000509 name: SickleInAfrica Core Data Element def: "A data element in the SickleInAfrica core data capture instrument." [] synonym: "SickleInAfrica Core DE" EXACT [] is_a: SCDO:1000508 ! SickleInAfrica Data Element property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000510 name: SickleInAfrica CDE - Urinary Albumin Concentration Question def: "The Sickle in Africa core data element that collects the concentration of albumin in the respondent's urine." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 SCDO:0001209 ! collects Urine Albumin Concentration relationship: SCDO:1000771 NCIT:C64572 ! has answer standard unit microgram per millilitre property_value: SCDO:1000518 "Urinary albumin concentration" xsd:string property_value: SCDO:1000519 "urinary_microalbumin_conc" xsd:string property_value: SCDO:1000735 "Kidney Function Assay (Phenx protocols PX141401, PX141501 and PX141601 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "µg/mL; PX141501" xsd:string property_value: SCDO:1000739 "3" xsd:integer property_value: SCDO:1000741 "Number" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000512 name: SickleInAfrica CDE - Informed Consent Obtained Question def: "The Sickle in Africa core data element that records whether the respondent has consented as necessary." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000496 ! is question type Multiple Choice Single Selection Question relationship: SCDO:1000526 OPMI:0000023 ! has answer option Yes relationship: SCDO:1000526 OPMI:0000024 ! has answer option No relationship: SCDO:1000526 OPMI:0000025 ! has answer option Do Not Know relationship: SCDO:1000526 OPMI:0000027 ! has answer option Refused relationship: SCDO:1000528 SCDO:1000513 ! collects Informed Consent Obtained property_value: SCDO:1000517 "1, Yes\n2, No\n-7, Refused\n-9, Don't Know" xsd:string property_value: SCDO:1000518 "Has the patient consented?" xsd:string property_value: SCDO:1000519 "consent_obtained" xsd:string property_value: SCDO:1000735 "Consent" xsd:string property_value: SCDO:1000739 "1" xsd:integer property_value: SCDO:1000749 "radio" xsd:string [Term] id: SCDO:1000513 name: Informed Consent Obtained def: "An indication of whether informed consent was obtained from the respondent and/or their proxy." [] is_a: SCDO:1000490 ! Consent Status property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000514 name: Study Enrollment Consent def: "Voluntary authorization given by a respondent and/or their proxy to be enrolled into a study as a research subject." [] is_a: SCDO:0007087 ! Informed Consent property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology, perhaps the ICO." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000515 name: Specimen Storage Consent def: "Voluntary authorization given by a study respondent and/or their proxy to have their specimen(s) stored." [] is_a: SCDO:0007087 ! Informed Consent property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology, perhaps the ICO." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000516 name: Genetic Material Storage Consent def: "Voluntary authorization given by a study paticipant to have their genetic material stored." [] is_a: SCDO:0007087 ! Informed Consent property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "Request inclusion into relevant ontology, perhaps the ICO." xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000520 name: SickleInAfrica CDE - Type of Informed Consent Obtained Question def: "The Sickle in Africa core data element that records the type(s) of informed consent obtained from the participant." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000495 ! is question type Multiple Choice Multiple Selection Question relationship: SCDO:1000526 ICO:0000179 ! has answer option Broad Consent relationship: SCDO:1000526 SCDO:1000514 ! has answer option Study Enrollment Consent relationship: SCDO:1000526 SCDO:1000515 ! has answer option Specimen Storage Consent relationship: SCDO:1000526 SCDO:1000516 ! has answer option Genetic Material Storage Consent relationship: SCDO:1000528 SCDO:1000521 ! collects Type of Informed Consent Obtained property_value: SCDO:1000517 "1, Study Enrollment Consent\n2, Specimen Storage Consent\n3, Genetic Material Storage Consent\n4, Broad Consent" xsd:string property_value: SCDO:1000518 "Type(s) of informed consent obtained" xsd:string property_value: SCDO:1000519 "consent_type" xsd:string property_value: SCDO:1000735 "Consent" xsd:string property_value: SCDO:1000739 "2" xsd:integer property_value: SCDO:1000749 "checkbox" xsd:string [Term] id: SCDO:1000521 name: Type of Informed Consent Obtained def: "An indication of the type of informed consent that was obtained from the respondent and/or their proxies." [] is_a: SCDO:1000490 ! Consent Status property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000522 name: Temporal Observable of Consent def: "Time-related information that can be observed and is related to consent." [] is_a: SCDO:0007597 ! Descriptor of Consent is_a: SCDO:1000537 ! Temporal Observable property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000527 name: Calculated Current Age def: "The current age of a patient, calculated using the current date and the patient's date of birth." [] is_a: SCDO:0000304 ! Current Age property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000532 name: SickleInAfrica CDE - Date of Signing Consent Question def: "The Sickle in Africa core data element that records the date on which the respondent signed the consent form for the relevant study." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 ICO:0000036 ! collects Date of Signing Consent property_value: SCDO:1000518 "Date subject signed consent (dd/mm/yyyy)" xsd:string property_value: SCDO:1000519 "consent_date" xsd:string property_value: SCDO:1000735 "Consent" xsd:string property_value: SCDO:1000739 "3" xsd:integer property_value: SCDO:1000741 "date_dmy" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000533 name: SickleInAfrica CDE - Consented By Question def: "The Sickle in Africa core data element that records the name of the person who managed the process of consenting the respondent." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000502 ! is question type Open-Ended Question - Free Text relationship: SCDO:1000528 SCDO:1000536 ! collects Consented By property_value: SCDO:1000518 "Consented by:" xsd:string property_value: SCDO:1000519 "consented_by" xsd:string property_value: SCDO:1000735 "Consent" xsd:string property_value: SCDO:1000739 "4" xsd:integer property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000534 name: Blood Transfusion Since Last Visit def: "An indication of whether the respondent has had a blood transfusion since their last hospital visit. This is any transfusion before enrolment if it is the patient's first hospital visit." [] is_a: SCDO:1000318 ! Diagnostic Instrument Measurement property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000535 name: Consent Form Uploaded def: "An indication of whether the consent form used for obtaining informed consent from the respondent has been uploaded to the relevant electronic system." [] is_a: SCDO:1000490 ! Consent Status property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000536 name: Consented By def: "The name of the person who conducted consenting of the respondent." [] is_a: SCDO:0007597 ! Descriptor of Consent property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000537 name: Temporal Observable def: "Time-related information that can be observed." [] is_a: SCDO:0001000 ! SCDO property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source http://purl.bioontology.org/ontology/SNOMEDCT/364713004 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000538 name: Diagnosis Temporal Observable def: "Time-related information that can be observed and is related to a diagnosis." [] is_a: SCDO:1000537 ! Temporal Observable is_a: SCDO:1000553 ! Diagnosis Descriptor property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000539 name: SickleInAfrica CDE - Visit Date Question def: "The Sickle in Africa core data element that records the visit date, in the format dd/mm/yyyy." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 NCIT:C83031 ! collects Visit Date property_value: SCDO:1000518 "Visit date (dd/mm/yyyy)" xsd:string property_value: SCDO:1000519 "date_today" xsd:string property_value: SCDO:1000735 "Demographics" xsd:string property_value: SCDO:1000739 "1" xsd:integer property_value: SCDO:1000741 "date_dmy" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000542 name: SickleInAfrica CDE - Site Participant Number Question def: "The Sickle in Africa core data element that records the site-specific unique identifier that was assigned to the study participant by the data collectors at the data collection site." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000502 ! is question type Open-Ended Question - Free Text relationship: SCDO:1000528 SCDO:1000730 ! collects Site Participant Number property_value: SCDO:1000518 "Site participant number" xsd:string property_value: SCDO:1000519 "participant_number" xsd:string property_value: SCDO:1000735 "Demographics" xsd:string property_value: SCDO:1000737 "Site-specific ID eg. GH20181234 for Ghana, NG20184321 for Nigeria or TZ20180001 for Tanzania" xsd:string property_value: SCDO:1000739 "3" xsd:integer property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000543 name: SickleInAfrica CDE - Date of Birth Question def: "The Sickle in Africa core data element that records the respondent's date of birth in the format dd/mm/yyyy." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 NCIT:C68615 ! collects Birth Date property_value: SCDO:1000518 "Date of birth (dd/mm/yyyy)" xsd:string property_value: SCDO:1000519 "date_of_birth" xsd:string property_value: SCDO:1000735 "Demographics" xsd:string property_value: SCDO:1000739 "9" xsd:integer property_value: SCDO:1000741 "date_dmy" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000545 name: Calculated Current Age (Months) def: "The current age of a patient, calculated using the current date and the patient's date of birth and provided in months." [] synonym: "Calculated Current Age in Months" EXACT [] is_a: SCDO:1000527 ! Calculated Current Age property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000546 name: Self-Reported Current Age (Years) def: "The length of time that a person has lived since their birth up until the current day, as reported in years by the respondent." [] synonym: "Self-Reported Age in Years" EXACT [] synonym: "Self-Reported Current Age in Years" EXACT [] is_a: SCDO:0000304 ! Current Age property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000547 name: SickleInAfrica CDE - Self-Reported Age Question def: "The Sickle in Africa core data element that records the respondent's age, as reported by the respondent in years." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 SCDO:1000546 ! collects Self-Reported Current Age (Years) property_value: SCDO:1000518 "Self-reported age (in years)" xsd:string property_value: SCDO:1000519 "age_on_day_of_visit" xsd:string property_value: SCDO:1000735 "Demographics" xsd:string property_value: SCDO:1000737 "Age on day of visit" xsd:string property_value: SCDO:1000739 "11" xsd:integer property_value: SCDO:1000741 "Number" xsd:string property_value: SCDO:1000743 "0" xsd:integer property_value: SCDO:1000744 "125" xsd:integer property_value: SCDO:1000748 "RH" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000548 name: SickleInAfrica CDE - Current Marital Status Question def: "The Sickle in Africa core data element that records the respondent's current marital status." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000496 ! is question type Multiple Choice Single Selection Question relationship: SCDO:1000526 NCIT:C156541 ! has answer option Separated relationship: SCDO:1000526 NCIT:C51773 ! has answer option Married relationship: SCDO:1000526 NCIT:C51774 ! has answer option Never Been Married relationship: SCDO:1000526 NCIT:C51775 ! has answer option Widowed relationship: SCDO:1000526 NCIT:C51776 ! has answer option Divorced relationship: SCDO:1000528 SCDO:0000307 ! collects Current Marital Status property_value: SCDO:1000517 "1, Married\n2, Widowed\n3, Divorced\n4, Separated\n5, Never been married/Annulled" xsd:string property_value: SCDO:1000518 "Current marital status" xsd:string property_value: SCDO:1000519 "marital_status" xsd:string property_value: SCDO:1000735 "Demographics" xsd:string property_value: SCDO:1000739 "15" xsd:integer property_value: SCDO:1000749 "radio" xsd:string [Term] id: SCDO:1000549 name: SickleInAfrica CDE - Date of Transfusion Question def: "The Sickle in Africa core data element that records the date on which the respondent last received a blood transfusion." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 SCDO:1000566 ! collects Date of Blood Transfusion property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000518 "Date of blood transfusion" xsd:string property_value: SCDO:1000519 "transfusion_date" xsd:string property_value: SCDO:1000735 "Management Details" xsd:string property_value: SCDO:1000739 "8" xsd:integer property_value: SCDO:1000741 "date_dmy" xsd:string property_value: SCDO:1000742 "[blood_transfusion] = \"Yes\"" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000550 name: SickleInAfrica CDE - SCD Other Test Question def: "The Sickle in Africa core data element that records the type of SCD test that was used to diagnose the respondent, in the case where the type of test was not listed as an answer option in a previous data element." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000502 ! is question type Open-Ended Question - Free Text relationship: SCDO:1000528 SCDO:1000577 ! collects Type of SCD Test property_value: SCDO:1000518 "If other test, please specify:" xsd:string property_value: SCDO:1000519 "other_test" xsd:string property_value: SCDO:1000735 "SCD Diagnosis Details" xsd:string property_value: SCDO:1000739 "6" xsd:integer property_value: SCDO:1000742 "[type_of_test] = '6'" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000551 name: SickleInAfrica CDE - Sex Question def: "The Sickle in Africa core data element that records the respondent's sex." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000496 ! is question type Multiple Choice Single Selection Question relationship: SCDO:1000526 GSSO:000109 ! has answer option Intersex relationship: SCDO:1000526 NCIT:C16576 ! has answer option Female relationship: SCDO:1000526 NCIT:C20197 ! has answer option Male relationship: SCDO:1000526 OPMI:0000027 ! has answer option Refused relationship: SCDO:1000528 NCIT:C28421 ! collects Sex property_value: SCDO:1000517 "1, Male\n2, Female\n3, Intersex\n-7, Refused" xsd:string property_value: SCDO:1000518 "Respondent's sex" xsd:string property_value: SCDO:1000519 "respondent_sex" xsd:string property_value: SCDO:1000735 "Demographics" xsd:string property_value: SCDO:1000739 "14" xsd:integer property_value: SCDO:1000749 "radio" xsd:string [Term] id: SCDO:1000552 name: SickleInAfrica CDE - Date of Diagnosis Known Question def: "The Sickle in Africa core data element that records whether the respondent knows the date of their SCD diagnosis." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000498 ! is question type Yes-No Question relationship: SCDO:1000526 OPMI:0000023 ! has answer option Yes relationship: SCDO:1000526 OPMI:0000024 ! has answer option No relationship: SCDO:1000528 SCDO:1000555 ! collects Date of SCD Diagnosis Known property_value: SCDO:1000517 "1, Yes\n0, No" xsd:string property_value: SCDO:1000518 "Is date of SCD diagnosis known?" xsd:string property_value: SCDO:1000519 "diagnosis_date_known" xsd:string property_value: SCDO:1000735 "SCD Diagnosis Details" xsd:string property_value: SCDO:1000739 "1" xsd:integer property_value: SCDO:1000749 "yesno" xsd:string [Term] id: SCDO:1000553 name: Diagnosis Descriptor def: "Information or a description that further describes a diagnosis." [] is_a: SCDO:0000379 ! Diagnostics property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000554 name: Date of Diagnosis Known def: "An indication of whether the date of the respondent's diagnosis of a disease is known by the respondent or the respondent's guardian." [] is_a: SCDO:1000538 ! Diagnosis Temporal Observable property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000555 name: Date of SCD Diagnosis Known def: "An indication of whether the date of the respondent's SCD diagnosis is known by the respondent or the respondent's guardian." [] is_a: SCDO:1000554 ! Date of Diagnosis Known property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000556 name: SickleInAfrica CDE - Date of Diagnosis Question def: "The Sickle in Africa core data element that records the respondent's date of diagnosis in the format dd/mm/yyyy." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 SCDO:1000558 ! collects Date of SCD Diagnosis property_value: SCDO:1000518 "Date of SCD diagnosis (dd/mm/yyyy)" xsd:string property_value: SCDO:1000519 "exact_diagnosis_date" xsd:string property_value: SCDO:1000735 "SCD Diagnosis Details" xsd:string property_value: SCDO:1000739 "2" xsd:integer property_value: SCDO:1000741 "date_dmy" xsd:string property_value: SCDO:1000742 "[diagnosis_date_known] = '1'" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000558 name: Date of SCD Diagnosis def: "The date on which a diagnosis of sickle cell disease was made." [] is_a: NCIT:C164339 ! Date of Diagnosis property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000566 name: Date of Blood Transfusion def: "The date on which a patient received a blood transfusion." [] is_a: SCDO:1000537 ! Temporal Observable is_a: SCDO:1000590 ! SCD Management Details property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000568 name: Year of SCD Diagnosis def: "The year in which a sickle cell disease diagnosis was made." [] is_a: NCIT:C168823 ! Year of Diagnosis property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000569 name: Month of Diagnosis def: "The month when a diagnosis was assigned to an individual's condition." [] is_a: SCDO:1000538 ! Diagnosis Temporal Observable property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000570 name: Month of SCD Diagnosis def: "The month when a sickle cell disease diagnosis was made." [] is_a: SCDO:1000569 ! Month of Diagnosis property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000571 name: SickleInAfrica CDE - Month of Diagnosis Question def: "The Sickle in Africa core data element that records the month of the year in which the respondent was diagnosed with SCD." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element property_value: SCDO:1000517 "-9, Don't know\n1, 1\n2, 2\n3, 3\n4, 4\n5, 5\n6, 6\n7, 7\n8, 8\n9, 9\n10, 10\n11, 11\n12, 12" xsd:string property_value: SCDO:1000518 "Month of SCD diagnosis" xsd:string property_value: SCDO:1000519 "month_of_diagnosis" xsd:string property_value: SCDO:1000735 "SCD Diagnosis Details" xsd:string property_value: SCDO:1000739 "4" xsd:integer property_value: SCDO:1000742 "[diagnosis_date_known] = '0'" xsd:string property_value: SCDO:1000749 "dropdown" xsd:string [Term] id: SCDO:1000572 name: Diagnosis def: "A diagnosis is the result of a medical investigation to identify a disorder from its signs and symptoms." [] xref: SIO:001331 is_a: NCIT:C18772 ! Personal Medical History property_value: SCDO:0000340 SIO:001331 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000572 xsd:string [Term] id: SCDO:1000573 name: SickleInAfrica CDE - SCD Test Result Question def: "The Sickle in Africa core data element that records the respondent's SCD test result." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000496 ! is question type Multiple Choice Single Selection Question relationship: SCDO:1000526 NCIT:C131682 ! has answer option Sickle Cell Disease-SS relationship: SCDO:1000526 NCIT:C95539 ! has answer option Sickle Beta Thalassemia relationship: SCDO:1000526 OPMI:0000028 ! has answer option Other relationship: SCDO:1000526 SCDO:0001055 ! has answer option Sickle Cell Trait relationship: SCDO:1000526 SCDO:0001059 ! has answer option Sickle Cell Disease-SC relationship: SCDO:1000528 SCDO:1000574 ! collects SCD Test Result property_value: SCDO:1000517 "1, SS\n2, SBThal\n3, SC\n4, AS\n5, Other" xsd:string property_value: SCDO:1000518 "SCD test result" xsd:string property_value: SCDO:1000519 "scd_test_result" xsd:string property_value: SCDO:1000735 "SCD Diagnosis Details" xsd:string property_value: SCDO:1000737 "SS = Sickle Cell Disease-SS | SBThal = Sickle Beta Thalassemia | SC = Sickle Cell Disease-SC | AS = Sickle Cell Trait" xsd:string property_value: SCDO:1000739 "3" xsd:integer property_value: SCDO:1000748 "RH" xsd:string property_value: SCDO:1000749 "dropdown" xsd:string [Term] id: SCDO:1000574 name: SCD Test Result def: "The result of a medical investigation to identify the type of sickle cell disease that a person has." [] is_a: CMO:0000508 ! Hemoglobin Measurement is_a: SCDO:1000572 ! Diagnosis property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000575 name: SickleInAfrica CDE - Type of SCD Test Question def: "The Sickle in Africa core data element that records the type of SCD test that was used to diagnose the respondent." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000496 ! is question type Multiple Choice Single Selection Question relationship: SCDO:1000526 CHMO:0001009 ! has answer option High-Performance Liquid Chromatography relationship: SCDO:1000526 OPMI:0000028 ! has answer option Other relationship: SCDO:1000526 SCDO:0000666 ! has answer option Isoelectric Focusing relationship: SCDO:1000526 SCDO:1000580 ! has answer option Hemoglobin Electrophoresis relationship: SCDO:1000526 SCDO:1000669 ! has answer option Sickle SCAN Rapid Test relationship: SCDO:1000526 SCDO:1000768 ! has answer option Acide relationship: SCDO:1000526 SCDO:1000769 ! has answer option Basique relationship: SCDO:1000528 SCDO:1000577 ! collects Type of SCD Test property_value: SCDO:1000517 "1, HPLC\n2, HBE\n3, IEF\n4, Basique\n5, Acide\n6, Sickle SCAN rapid test\n7, Other" xsd:string property_value: SCDO:1000518 "Type of test?" xsd:string property_value: SCDO:1000519 "type_of_test" xsd:string property_value: SCDO:1000735 "SCD Diagnosis Details" xsd:string property_value: SCDO:1000737 "HPLC = High-Performance Liquid Chromatography| HBE = Hemoglobin Electrophoresis | IEF = Isoelectric Focusing| Basique = Basique SCD Test | Acide = Acide SCD Test" xsd:string property_value: SCDO:1000739 "5" xsd:integer property_value: SCDO:1000749 "dropdown" xsd:string [Term] id: SCDO:1000576 name: Diagnostic Measurement Descriptor def: "A piece of information that further describes a diagnostic measurement." [] is_a: SCDO:0000379 ! Diagnostics property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000577 name: Type of SCD Test def: "The type of test that was used to obtain a sickle cell disease diagnosis." [] is_a: SCDO:1000576 ! Diagnostic Measurement Descriptor property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000578 name: SickleInAfrica CDE - SCD Test Other Result Question def: "The Sickle in Africa core data element that records the respondent's SCD test result, in the case where the specific result was not listed as an answer option in a previous data element." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000502 ! is question type Open-Ended Question - Free Text relationship: SCDO:1000528 SCDO:1000574 ! collects SCD Test Result property_value: SCDO:1000518 "If other SCD test result, please specify:" xsd:string property_value: SCDO:1000519 "other_scd_test_result" xsd:string property_value: SCDO:1000735 "SCD Diagnosis Details" xsd:string property_value: SCDO:1000739 "4" xsd:integer property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000579 name: SickleInAfrica CDE - Blood Group Question def: "The Sickle in Africa core data element that records the respondent's ABO Blood Group." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000496 ! is question type Multiple Choice Single Selection Question relationship: SCDO:1000526 SCDO:1000582 ! has answer option Blood Type A Positive relationship: SCDO:1000526 SCDO:1000583 ! has answer option Blood Type A Negative relationship: SCDO:1000526 SCDO:1000584 ! has answer option Blood Type B Positive relationship: SCDO:1000526 SCDO:1000585 ! has answer option Blood Type B Negative relationship: SCDO:1000526 SCDO:1000586 ! has answer option Blood Type O Positive relationship: SCDO:1000526 SCDO:1000587 ! has answer option Blood Type O Negative relationship: SCDO:1000526 SCDO:1000588 ! has answer option Blood Type AB Positive relationship: SCDO:1000526 SCDO:1000589 ! has answer option Blood Type AB Negative relationship: SCDO:1000528 HP:0032224 ! collects ABO Blood Group property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000517 "1, A+\n2, A-\n3, B+\n4, B-\n5, O+\n6, O-\n7, AB+\n8, AB-" xsd:string property_value: SCDO:1000518 "ABO blood group" xsd:string property_value: SCDO:1000519 "abo_blood_group" xsd:string property_value: SCDO:1000735 "SCD Diagnosis Details" xsd:string property_value: SCDO:1000739 "7" xsd:integer property_value: SCDO:1000749 "dropdown" xsd:string [Term] id: SCDO:1000580 name: Hemoglobin Electrophoresis def: "A blood test that uses the principles of gel electrophoresis to separate out the various types of hemoglobin in order to determine the level of different types of hemoglobin in the blood." [] synonym: "Electrophoresis - hemoglobin" EXACT [] synonym: "Haemoglobin Electrophoresis" EXACT [] synonym: "Hb electrophoresis" EXACT [] synonym: "HBE" EXACT [] synonym: "Hemoglobinopathy - electrophoresis" EXACT [] synonym: "Hgb electrophoresis" EXACT [] synonym: "Sickle cell - electrophoresis" EXACT [] synonym: "Thalassemia Screening" EXACT [] synonym: "Thallasemia - electrophoresis" EXACT [] is_a: SCDO:0000424 ! Electrophoresis is_a: SCDO:0000522 ! Hemoglobin Variant Test is_a: SCDO:1000577 ! Type of SCD Test property_value: http://purl.org/dc/elements/1.1/source Hemoglobin:electrophoresis property_value: http://purl.org/dc/elements/1.1/source https://medlineplus.gov/ency/article/003639.htm property_value: SCDO:0000303 "Placed as sub-class here according to position in the \"Read Codes, Clinical Terms Version 3 (CTV3)\" Ontology" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000582 name: Blood Type A Positive def: "A blood type containing type A red blood cell surface markers, with the presence of a protein called rhesus (Rh) factor." [] synonym: "A+" EXACT [] synonym: "Blood group A Rh(D) positive" EXACT [] synonym: "Type A blood, Rh positive" EXACT [] is_a: HP:0032224 ! ABO Blood Group property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Kambe Banda)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000583 name: Blood Type A Negative def: "A blood type containing type A red blood cell surface markers, with the absence of a protein called rhesus (Rh) factor." [] def: "SCDO (Kambe Banda)" [] synonym: "A-" EXACT [] synonym: "Blood group A Rh(D) negative" EXACT [] synonym: "Type A blood, Rh negative" EXACT [] is_a: HP:0032224 ! ABO Blood Group property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000584 name: Blood Type B Positive def: "A blood type containing type B red blood cell surface markers, with the presence of a protein called rhesus (Rh) factor." [] synonym: "B+" EXACT [] synonym: "Blood group B Rh(D) positive" EXACT [] synonym: "Type B blood, Rh positive" EXACT [] is_a: HP:0032224 ! ABO Blood Group property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Kambe Banda)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000585 name: Blood Type B Negative def: "A blood type containing type B red blood cell surface markers, with the absence of a protein called rhesus (Rh) factor." [] synonym: "B-" EXACT [] synonym: "Blood group B Rh(D) negative" EXACT [] synonym: "Type B blood, Rh negative" EXACT [] is_a: HP:0032224 ! ABO Blood Group property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Kambe Banda)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000586 name: Blood Type O Positive def: "A blood type containing no surface markers on red blood cells, with the presence of a protein called rhesus (Rh) factor." [] synonym: "Blood group O Rh(D) positive" EXACT [] synonym: "O+" EXACT [] synonym: "Type O blood, Rh positive" EXACT [] is_a: HP:0032224 ! ABO Blood Group property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Kambe Banda)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000587 name: Blood Type O Negative def: "A blood type containing no surface markers on red blood cells, with the absence of a protein called rhesus (Rh) factor." [] synonym: "Blood group O Rh(D) negative" EXACT [] synonym: "O-" EXACT [] synonym: "Type O blood, Rh negative" EXACT [] is_a: HP:0032224 ! ABO Blood Group property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Kambe Banda)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000588 name: Blood Type AB Positive def: "A blood type containing both type A and B red blood cell surface markers, with the presence of a protein called rhesus (Rh) factor." [] synonym: "AB+" EXACT [] synonym: "Blood group AB Rh(D) positive" EXACT [] synonym: "Type AB blood, Rh positive" EXACT [] is_a: HP:0032224 ! ABO Blood Group property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Kambe Banda)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000589 name: Blood Type AB Negative def: "A blood type containing both type A and B red blood cell surface markers, with the absence of a protein called rhesus (Rh) factor" [] synonym: "AB-" EXACT [] synonym: "Blood group AB Rh(D) negative" EXACT [] synonym: "Type AB blood, Rh negative" EXACT [] is_a: HP:0032224 ! ABO Blood Group property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Kambe Banda)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000590 name: SCD Management Details def: "Information about how a patient's SCD is being managed." [] is_a: NCIT:C19332 ! Personal Attribute is_a: SCDO:0001152 ! Therapeutics property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000591 name: SickleInAfrica CDE - Hydroxyurea Use Question def: "The Sickle in Africa core data element that records the respondent's hydroxyurea use status (i.e. an indication of whether the respondent is using hydroxyurea)." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000498 ! is question type Yes-No Question relationship: SCDO:1000526 OPMI:0000023 ! has answer option Yes relationship: SCDO:1000526 OPMI:0000024 ! has answer option No relationship: SCDO:1000528 SCDO:1000592 ! collects Hydroxyurea Use Status property_value: SCDO:1000517 "1, Yes\n0, No" xsd:string property_value: SCDO:1000518 "Using hydroxyurea" xsd:string property_value: SCDO:1000519 "using_hydroxyurea" xsd:string property_value: SCDO:1000735 "Management Details" xsd:string property_value: SCDO:1000739 "1" xsd:integer property_value: SCDO:1000748 "RH" xsd:string property_value: SCDO:1000749 "yesno" xsd:string [Term] id: SCDO:1000592 name: Hydroxyurea Use Status def: "An indication of whether the respondent is using hydroxyurea." [] is_a: SCDO:1000318 ! Diagnostic Instrument Measurement is_a: SCDO:1000590 ! SCD Management Details property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000593 name: SickleInAfrica CDE - Hydroxyurea Initiation Date Question def: "The Sickle in Africa core data element that records the date on which the respondent started hydroxyurea therapy, in the format dd/mm/yyyy." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 SCDO:1000594 ! collects Date of Hydroxyurea Therapy Initiation property_value: SCDO:1000518 "Date of initiation of hydroxyurea therapy (dd/mm/yyyy)" xsd:string property_value: SCDO:1000519 "date_of_initiation_of_hydr" xsd:string property_value: SCDO:1000735 "Management Details" xsd:string property_value: SCDO:1000739 "2" xsd:integer property_value: SCDO:1000741 "date_dmy" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000594 name: Date of Hydroxyurea Therapy Initiation def: "The date on which hydroxyurea therapy was initiated." [] is_a: SCDO:1000537 ! Temporal Observable property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000595 name: SickleInAfrica CDE - Penicillin V Use Question def: "The Sickle in Africa core data element that records whether the respondent is using penicillin V as a prophylaxis against bacterial infections." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000496 ! is question type Multiple Choice Single Selection Question relationship: SCDO:1000526 NCIT:C48660 ! has answer option NA relationship: SCDO:1000526 OPMI:0000023 ! has answer option Yes relationship: SCDO:1000526 OPMI:0000024 ! has answer option No relationship: SCDO:1000528 SCDO:1000596 ! collects Penicillin V Prophylaxis Use Status property_value: SCDO:1000517 "1, Yes\n2, No\n-6, NA" xsd:string property_value: SCDO:1000518 "Using penicillin V (prophylaxis)" xsd:string property_value: SCDO:1000519 "penicillin_v_prophylaxis" xsd:string property_value: SCDO:1000735 "Management Details" xsd:string property_value: SCDO:1000739 "3" xsd:integer property_value: SCDO:1000748 "RH" xsd:string property_value: SCDO:1000749 "radio" xsd:string [Term] id: SCDO:1000596 name: Penicillin V Prophylaxis Use Status def: "An indication of whether the respondent is using penicillin V prophylaxis." [] is_a: SCDO:1000318 ! Diagnostic Instrument Measurement is_a: SCDO:1000590 ! SCD Management Details property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000597 name: SickleInAfrica CDE - Folic Acid Use Question def: "The Sickle in Africa core data element that records the respondent's folic acid use status (i.e. an indication of whether the respondent is using folic acid)." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000498 ! is question type Yes-No Question relationship: SCDO:1000526 OPMI:0000023 ! has answer option Yes relationship: SCDO:1000526 OPMI:0000024 ! has answer option No relationship: SCDO:1000528 SCDO:1000598 ! collects Folic Acid Use Status property_value: SCDO:1000517 "1, Yes\n0, No" xsd:string property_value: SCDO:1000518 "Using folic acid" xsd:string property_value: SCDO:1000519 "folic_acid" xsd:string property_value: SCDO:1000735 "Management Details" xsd:string property_value: SCDO:1000739 "5" xsd:integer property_value: SCDO:1000748 "RH" xsd:string property_value: SCDO:1000749 "yesno" xsd:string [Term] id: SCDO:1000598 name: Folic Acid Use Status def: "An indication of whether the respondent is using folic acid." [] is_a: SCDO:1000318 ! Diagnostic Instrument Measurement is_a: SCDO:1000590 ! SCD Management Details property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000599 name: Malaria Prophylaxis Status def: "An indication of whether the respondent is using malaria prophylaxis." [] is_a: SCDO:1000318 ! Diagnostic Instrument Measurement is_a: SCDO:1000590 ! SCD Management Details property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000600 name: SickleInAfrica CDE - Malaria Prophylaxis Question def: "The Sickle in Africa core data element that records whether the respondent is using malaria chemoprophylaxis (drugs that prevent malaria)." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000496 ! is question type Multiple Choice Single Selection Question relationship: SCDO:1000526 NCIT:C48660 ! has answer option NA relationship: SCDO:1000526 OPMI:0000023 ! has answer option Yes relationship: SCDO:1000526 OPMI:0000024 ! has answer option No relationship: SCDO:1000528 SCDO:1000599 ! collects Malaria Prophylaxis Status property_value: SCDO:1000517 "1, Yes\n2, No\n-6, NA" xsd:string property_value: SCDO:1000518 "Using malaria chemoprophylaxis" xsd:string property_value: SCDO:1000519 "antimalaria_prophylaxis" xsd:string property_value: SCDO:1000735 "Management Details" xsd:string property_value: SCDO:1000739 "4" xsd:integer property_value: SCDO:1000749 "radio" xsd:string [Term] id: SCDO:1000601 name: SickleInAfrica CDE - Pneumococcal Vaccination Question def: "The Sickle in Africa core data element that records whether the respondent's pneumococcal vaccination is up to date." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000498 ! is question type Yes-No Question relationship: SCDO:1000526 OPMI:0000023 ! has answer option Yes relationship: SCDO:1000526 OPMI:0000024 ! has answer option No relationship: SCDO:1000528 SCDO:1000602 ! collects Pneumococcal Vaccination Status property_value: SCDO:1000517 "1, Yes\n0, No" xsd:string property_value: SCDO:1000518 "Pneumococcal vaccination up to date" xsd:string property_value: SCDO:1000519 "pneumococcal_vacc_uptodate" xsd:string property_value: SCDO:1000735 "Management Details" xsd:string property_value: SCDO:1000739 "6" xsd:integer property_value: SCDO:1000748 "RH" xsd:string property_value: SCDO:1000749 "yesno" xsd:string [Term] id: SCDO:1000602 name: Pneumococcal Vaccination Status def: "An indication of whether the respondent is up to date with their pneumococcal vaccinations." [] is_a: SCDO:1000590 ! SCD Management Details property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000604 name: Management Details Added By def: "The person who recorded the information about how a patient's condition is being managed." [] is_a: SCDO:1000590 ! SCD Management Details property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000605 name: Blood Urea Analysis def: "Any assay which measures the amount, level or concentration of urea in whole blood." [] xref: MMO:0000272 is_a: SCDO:0000133 ! Blood Test relationship: SCDO:1000194 EUPATH:0021227 ! measures Blood Urea Concentration property_value: SCDO:0000340 MMO:0000272 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000605 xsd:string [Term] id: SCDO:1000606 name: Management Details Add Date def: "The date on which the respondent's management details were added/recorded." [] is_a: SCDO:1000537 ! Temporal Observable is_a: SCDO:1000590 ! SCD Management Details property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000607 name: SickleInAfrica CDE - Red Blood Cell Count Question def: "The Sickle in Africa core data element that collects the red blood cell count in the respondent's blood, as measured by a complete blood count." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 CMO:0000025 ! collects Red Blood Cell Count relationship: SCDO:1000771 NCIT:C67251 ! has answer standard unit million cells per microliter property_value: SCDO:1000518 "Red blood cell count (RBC)" xsd:string property_value: SCDO:1000519 "cbc_redbloodcount" xsd:string property_value: SCDO:1000735 "Laboratory Results: Complete Blood Count (PhenX protocol PX220501 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "million cells/µL" xsd:string property_value: SCDO:1000739 "1" xsd:integer property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000611 name: SickleInAfrica CDE - White Blood Cell Count Question def: "The Sickle in Africa core data element that collects the white blood cell count in the respondent's blood, as measured by a complete blood count." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 CMO:0000027 ! collects White Blood Cell Count relationship: SCDO:1000771 NCIT:C67244 ! has answer standard unit thousand cells per microliter property_value: SCDO:1000518 "White blood cell count (WBC)" xsd:string property_value: SCDO:1000519 "cbc_whitebloodcount" xsd:string property_value: SCDO:1000735 "Laboratory Results: Complete Blood Count (PhenX protocol PX220501 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "1000 cells/µL" xsd:string property_value: SCDO:1000739 "2" xsd:integer property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000612 name: Abnormal Leukocyte Morphology def: "Any structural abnormality of leukocytes (nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue)." [] xref: HP:0001881 is_a: HP:0001871 ! Abnormality of Blood and Blood-Forming Tissues is_a: HP:0002715 ! Abnormality of the Immune System property_value: SCDO:0000303 "Suggest the HPO update their definition. Theirs currently is \"An abnormality of leukocytes.\"" xsd:string property_value: SCDO:0000340 HP:0001881 property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:1000615 name: SickleInAfrica CDE - Platelet Count Question def: "The Sickle in Africa core data element that collects the platelet count in the respondent's blood, as measured by a complete blood count." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 CMO:0000029 ! collects Platelet Count relationship: SCDO:1000771 NCIT:C67244 ! has answer standard unit thousand cells per microliter property_value: SCDO:1000518 "Platelet count" xsd:string property_value: SCDO:1000519 "cbc_platelet_count" xsd:string property_value: SCDO:1000735 "Laboratory Results: Complete Blood Count (PhenX protocol PX220501 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "1000 cells/µL" xsd:string property_value: SCDO:1000739 "3" xsd:integer property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000619 name: SickleInAfrica CDE - Hemoglobin - CBC Question def: "The Sickle in Africa core data element that collects the concentration of hemoglobin in the respondent's blood, as measured by a complete blood count." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 CMO:0000506 ! collects Hemoglobin Concentration relationship: SCDO:1000771 NCIT:C64783 ! has answer standard unit g/dL property_value: SCDO:1000518 "Hemoglobin" xsd:string property_value: SCDO:1000519 "cbc_hemoglobin" xsd:string property_value: SCDO:1000735 "Laboratory Results: Complete Blood Count (PhenX protocol PX220501 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "g/dL" xsd:string property_value: SCDO:1000739 "4" xsd:integer property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000621 name: SickleInAfrica CDE - Mean Cell Volume Question def: "The Sickle in Africa core data element that collects the respondent's mean cell volume (MCV), as measured by a complete blood count." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 CMO:0000038 ! collects Mean Corpuscular Volume relationship: SCDO:1000771 UO:0000104 ! has answer standard unit fL property_value: SCDO:1000518 "Mean cell volume (MCV)" xsd:string property_value: SCDO:1000519 "cbc_mean_cell_volume" xsd:string property_value: SCDO:1000735 "Laboratory Results: Complete Blood Count (PhenX protocol PX220501 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "fL" xsd:string property_value: SCDO:1000739 "5" xsd:integer property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000627 name: SickleInAfrica CDE - Mean Cell Hemoglobin Question def: "The Sickle in Africa core data element that collects the respondent's mean cell hemoglobin (MCH), as measured by a complete blood count." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 CMO:0000290 ! collects Mean Corpuscular Hemoglobin Level relationship: SCDO:1000771 UO:0000025 ! has answer standard unit pg property_value: SCDO:1000518 "Mean cell hemoglobin (MCH)" xsd:string property_value: SCDO:1000519 "cbc_mean_cell_hemoglobin" xsd:string property_value: SCDO:1000735 "Laboratory Results: Complete Blood Count (PhenX protocol PX220501 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "pg" xsd:string property_value: SCDO:1000739 "6" xsd:integer property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000630 name: SickleInAfrica CDE - Mean Cell Hemoglobin Concentration Question def: "The Sickle in Africa core data element that collects the respondent's mean cell hemoglobin concentration (MCHC), as measured by a complete blood count." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 CMO:0000291 ! collects Mean Corpuscular Hemoglobin Concentration relationship: SCDO:1000771 NCIT:C64783 ! has answer standard unit g/dL property_value: SCDO:1000518 "Mean cell hemoglobin concentration (MCHC)" xsd:string property_value: SCDO:1000519 "cbc_mchc" xsd:string property_value: SCDO:1000735 "Laboratory Results: Complete Blood Count (PhenX protocol PX220501 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "g/dL" xsd:string property_value: SCDO:1000739 "7" xsd:integer property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000637 name: SickleInAfrica CDE - Red Cell Distribution Width Question def: "The Sickle in Africa core data element that collects the respondent's red cell distribution width, as measured by a complete blood count." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 SCDO:1000638 ! collects Red Blood Cell Distribution Width relationship: SCDO:1000771 UO:0000187 ! has answer standard unit Percent property_value: SCDO:1000518 "Red cell distribution width (RDW)" xsd:string property_value: SCDO:1000519 "cbc_redcelldistributionwidth" xsd:string property_value: SCDO:1000735 "Laboratory Results: Complete Blood Count (PhenX protocol PX220501 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "%" xsd:string property_value: SCDO:1000739 "8" xsd:integer property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000638 name: Red Blood Cell Distribution Width def: "Red blood cell distribution width (RDW or RDW-CV or RCDW and RDW-SD) is a measure of the range of variation of red blood cell (RBC) volume that is reported as part of a standard complete blood count. Usually red blood cells are a standard size of about 6-8 μm in diameter. Certain disorders, however, cause a significant variation in cell size. Higher RDW values indicate greater variation in size. Normal reference range of RDW-CV in human red blood cells is 11.5-14.5%.[1] If anemia is observed, RDW test results are often used together with mean corpuscular volume (MCV) results to determine the possible causes of the anemia. It is mainly used to differentiate an anemia of mixed causes from an anemia of a single cause." [] synonym: "RCDW" EXACT [] synonym: "RDW" EXACT [] synonym: "Red Cell Distribution Width" EXACT [] xref: EFO:0009188 is_a: CMO:0001356 ! Red Blood Cell Measurement relationship: SCDO:1000190 CMO:0000364 ! obtained via diagnostic tool Complete Blood Count relationship: SCDO:1000772 MP:0010067 ! has possible finding Increased Red Blood Cell Distribution Width relationship: SCDO:1000772 MP:0010068 ! has possible finding Decreased Red Blood Cell Distribution Width relationship: SCDO:1000772 SCDO:1000828 ! has possible finding Normal Red Blood Cell Distribution Width property_value: SCDO:0000340 EFO:0009188 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000638 xsd:string [Term] id: SCDO:1000645 name: SickleInAfrica CDE - Serum Creatinine Concentration Question def: "The Sickle in Africa core data element that collects the level of serum creatinine in the respondent's blood." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 CMO:0000057 ! collects Serum Creatinine Level relationship: SCDO:1000771 NCIT:C67015 ! has answer standard unit mg/dL property_value: SCDO:1000518 "Serum creatinine concentration" xsd:string property_value: SCDO:1000519 "serum_creatinine_conc" xsd:string property_value: SCDO:1000735 "Kidney Function Assay (Phenx protocols PX141401, PX141501 and PX141601 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "mg/dL; PX141401" xsd:string property_value: SCDO:1000739 "1" xsd:integer property_value: SCDO:1000741 "Number" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000649 name: Elevated Serum Creatinine def: "An abnormally increased amount of creatinine in the blood." [] synonym: "Elevated Creatinine" EXACT [] synonym: "High Blood Creatinine Level" EXACT [] synonym: "Increased Creatinine" EXACT [] synonym: "Increased Serum Creatinine" EXACT [] xref: HP:0003259 is_a: HP:0002157 ! Azotaemia is_a: HP:0012100 ! Abnormal Circulating Creatinine Level property_value: SCDO:0000303 "Suggest update to description in HPO (include the word \"abnormally\")" xsd:string property_value: SCDO:0000340 HP:0003259 property_value: SCDO:1000288 "Suggest update to description" xsd:string [Term] id: SCDO:1000650 name: SickleInAfrica CDE - Urinary Creatinine Concentration Question def: "The Sickle in Africa core data element that collects the concentration of creatinine in the respondent's urine." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 SCDO:0001213 ! collects Urine Creatinine Concentration relationship: SCDO:1000771 NCIT:C67015 ! has answer standard unit mg/dL property_value: SCDO:1000518 "Urinary creatinine concentration" xsd:string property_value: SCDO:1000519 "urinary_creatinine_conc" xsd:string property_value: SCDO:1000735 "Kidney Function Assay (Phenx protocols PX141401, PX141501 and PX141601 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "mg/dL; PX141601" xsd:string property_value: SCDO:1000739 "4" xsd:integer property_value: SCDO:1000741 "Number" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000657 name: SickleInAfrica CDE - Alanine Aminotransferase Level Question def: "The Sickle in Africa core data element that collects the level of alanine aminotransferase in the respondent's blood." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 SCDO:0000035 ! collects Alanine Aminotransferase Level relationship: SCDO:1000771 NCIT:C67376 ! has answer standard unit IU/L property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000518 "Alanine aminotransferase level" xsd:string property_value: SCDO:1000519 "results_of_alanine_at_assay" xsd:string property_value: SCDO:1000735 "Liver Function Assay (PhenX protocol PX190801 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "IU/L" xsd:string property_value: SCDO:1000739 "1" xsd:integer property_value: SCDO:1000741 "Number" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000660 name: SickleInAfrica CDE - Aspartate Aminotransferase Level Question def: "The Sickle in Africa core data element that collects the level of aspartate aminotransferase in the respondent's blood." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 SCDO:0000080 ! collects Aspartate Aminotransferase Level relationship: SCDO:1000771 NCIT:C67376 ! has answer standard unit IU/L property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000518 "Aspartate aminotransferase level" xsd:string property_value: SCDO:1000519 "results_of_aspartate_at_assay" xsd:string property_value: SCDO:1000735 "Liver Function Assay (PhenX protocol PX190801 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "IU/L" xsd:string property_value: SCDO:1000739 "2" xsd:integer property_value: SCDO:1000741 "Number" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000662 name: SickleInAfrica CDE - Alkaline Phosphatase Level Question def: "The Sickle in Africa core data element that collects the level of alkaline phosphatase in the respondent's blood." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 VT:0000202 ! collects Alkaline Phosphatase Level relationship: SCDO:1000771 NCIT:C67376 ! has answer standard unit IU/L property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000518 "Alkaline phosphatase level" xsd:string property_value: SCDO:1000519 "results_of_alkaline_phosphatase_assay" xsd:string property_value: SCDO:1000735 "Liver Function Assay (PhenX protocol PX190801 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "IU/L" xsd:string property_value: SCDO:1000739 "3" xsd:integer property_value: SCDO:1000741 "Number" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000663 name: Alkaline Phosphatase Blood Test def: "A quantitative measurement of alkaline phosphatase present in a blood sample." [] synonym: "Alkaline Phosphatase Test" EXACT [] is_a: NCIT:C74954 ! Liver Function Test is_a: SCDO:0000133 ! Blood Test property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000669 name: Sickle SCAN Rapid Test def: "A multiplexed qualitative point-of-care immunoassay used for the rapid diagnosis of sickle cell disorders. The test is made up of three indicators which detect the presence of hemoglobins A, S, and C, allowing the user to rapidly distinguish between normal, carrier, and sickle cell samples." [] is_a: SCDO:0000522 ! Hemoglobin Variant Test is_a: SCDO:1000577 ! Type of SCD Test property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: http://purl.org/dc/elements/1.1/source https://www.sicklescan.com/ property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000673 name: Current Partner Status def: "An indication of a person's current status in terms of living with a person as though married (in a romantic relationship and living together but not married)." [] is_a: NCIT:C16495 ! Demographic Factor property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000679 name: Past Partner Status def: "An indication of whether a person has previously lived with someone as though married (in a romantic relationship and lived together but were not married)." [] is_a: NCIT:C16495 ! Demographic Factor property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000680 name: SickleInAfrica CDE - Total Bilirubin Concentration Question def: "The Sickle in Africa core data element that collects the level of billirubin in the respondent's blood." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 CMO:0000376 ! collects Total Serum Bilirubin Level relationship: SCDO:1000771 NCIT:C67015 ! has answer standard unit mg/dL property_value: SCDO:1000518 "Total billirubin concentration" xsd:string property_value: SCDO:1000519 "billirubin_total_billirubin_conc" xsd:string property_value: SCDO:1000735 "Laboratory Results: Bilirubin Level (PhenX protocol PX0810901 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "mg/dL" xsd:string property_value: SCDO:1000739 "1" xsd:integer property_value: SCDO:1000741 "Number" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000682 name: SickleInAfrica CDE - Lactate Dehydrogenase Level Question def: "The Sickle in Africa core data element that collects the level of lactate dehydrogenase in the respondent's blood." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 SCDO:0000682 ! collects Lactate Dehydrogenase Level relationship: SCDO:1000771 NCIT:C67376 ! has answer standard unit IU/L property_value: SCDO:1000518 "Lactate dehydrogenase level" xsd:string property_value: SCDO:1000519 "lactate_dehydrogenase_conc" xsd:string property_value: SCDO:1000735 "Laboratory Results: Lactate Dehydrogenase Level (PhenX protocol PX0811001 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "IU/L" xsd:string property_value: SCDO:1000739 "1" xsd:integer property_value: SCDO:1000741 "Number" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000684 name: Reduced Lactate Dehydrogenase Level def: "A decreased or reduced level of the enzyme lactate dehydrogenase in serum." [] synonym: "Decreased Lactate Dehydrogenase Level" EXACT [] xref: HP:0045041 is_a: HP:0045040 ! Abnormal Lactate Dehydrogenase Level property_value: SCDO:0000303 "The current label in HPO is \"Reduced lactate dehydrogenase B level\". Seems the \"B\" in the label and the comment that refers to the B subunit should be removed." xsd:string property_value: SCDO:0000340 HP:0045041 property_value: SCDO:1000288 "Suggest update to label" xsd:string [Term] id: SCDO:1000685 name: SickleInAfrica CDE - Reticulocyte Count Question def: "The Sickle in Africa core data element that collects the reticulocyte count in the respondent's blood, as measured by a complete blood count." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 SCDO:0001004 ! collects Reticulocyte Count relationship: SCDO:1000771 NCIT:C67244 ! has answer standard unit thousand cells per microliter property_value: SCDO:1000518 "Number of reticulocytes" xsd:string property_value: SCDO:1000519 "reticulocyte_amount" xsd:string property_value: SCDO:1000735 "Laboratory Results: Reticulocyte Count (PhenX protocol PX0810601 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "1000 cells/µL" xsd:string property_value: SCDO:1000739 "1" xsd:integer property_value: SCDO:1000741 "Number" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000686 name: Reticulocyte Count Assay def: "A test used to measure the reticulocyte count (number of reticulocytes in a given volume of blood)." [] synonym: "Retic Count" EXACT [] synonym: "Reticulocyte Count Test" EXACT [] is_a: SCDO:0000133 ! Blood Test property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/810601 property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000687 name: SickleInAfrica CDE - Hb Assay Results Recorded Question def: "The Sickle in Africa core data element that records the hemoglobins for which assay results were recorded." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000495 ! is question type Multiple Choice Multiple Selection Question relationship: SCDO:1000526 SCDO:0000513 ! has answer option Hemoglobin C relationship: SCDO:1000526 SCDO:0000514 ! has answer option Hemoglobin S relationship: SCDO:1000526 SCDO:0000528 ! has answer option Hemoglobin D-Punjab relationship: SCDO:1000526 SCDO:0004139 ! has answer option Adult Hemoglobin relationship: SCDO:1000526 SCDO:0005446 ! has answer option Fetal Hemoglobin relationship: SCDO:1000526 SCDO:1000009 ! has answer option Hemoglobin E relationship: SCDO:1000526 SCDO:1000016 ! has answer option Hemoglobin O-Arab relationship: SCDO:1000526 SCDO:1000364 ! has answer option Hemoglobin A2 relationship: SCDO:1000526 SCDO:1000689 ! has answer option Hemoglobin G-Philadelphia relationship: SCDO:1000528 SCDO:1000688 ! collects Hemoglobin Assay Results Recorded property_value: SCDO:1000517 "1, Hb A\n2, Hb F\n3, Hb S\n4, Hb C\n5, Hb E\n6, Hb A2\n7, Hb D-Punjab\n8, Hb G-Philadelphia\n9, Hb O-Arab" xsd:string property_value: SCDO:1000518 "For which hemoglobins were assay results recorded?" xsd:string property_value: SCDO:1000519 "scd_hemoglobin_assay_results" xsd:string property_value: SCDO:1000735 "Laboratory Results: Hemoglobin Characterisation (PhenX protocol PX0830301 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "Select all relevant options" xsd:string property_value: SCDO:1000739 "1" xsd:integer property_value: SCDO:1000748 "LH" xsd:string property_value: SCDO:1000749 "checkbox" xsd:string [Term] id: SCDO:1000688 name: Hemoglobin Assay Results Recorded def: "The hemoglobins for which assay results were recorded." [] is_a: SCDO:1000576 ! Diagnostic Measurement Descriptor property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000689 name: Hemoglobin G-Philadelphia def: "Hemoglobin G Philadelphia (HbG Phil) is a structural variant of the hemoglobin molecule that involves the alpha chain rather than the beta chain. It has a frequency of about 1 in 5,000 African Americans, but has been reported in other ethnic groups in the Mediterranean region as well, HbG Phil itself has no clinical consequences. The only finding of clinical interest is the mild microcytosis. While this molecule has no clinical consequences, the presence helps to distinguish HbG from HbD that shares its electrophoretic migration on HPLC and gel electrophoresis and which does have consequences when it occurs with sickle trait." [] synonym: "Hb G-Phil" EXACT [] synonym: "Hb G-Philadelphia" EXACT [] synonym: "HbG Phil" EXACT [] synonym: "Hemoglobin G Philadelphia" EXACT [] xref: LNC:LP16433-2 is_a: SCDO:0006921 ! Hemoglobin Variant property_value: SCDO:0000340 https://loinc.org/80655-4/ property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000689 xsd:string [Term] id: SCDO:1000690 name: Hemoglobin A Level def: "The amount of hemoglobin A present in a specified volume of blood." [] synonym: "Haemoglobin A Level" EXACT [] is_a: SCDO:0000546 ! Hemoglobin Profile relationship: SCDO:1000190 SCDO:0000547 ! obtained via diagnostic tool Hemoglobin Profile Assay relationship: SCDO:1000772 SCDO:0000976 ! has possible finding Reduced Hemoglobin A relationship: SCDO:1000772 SCDO:1000241 ! has possible finding Absent Hemoglobin A property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Negligible" xsd:string [Term] id: SCDO:1000691 name: SickleInAfrica CDE - Hemoglobin A Level Question def: "The Sickle in Africa core data element that collects the proportion of the respondent's hemoglobin that consists of hemoglobin A." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 SCDO:1000690 ! collects Hemoglobin A Level relationship: SCDO:1000771 UO:0000187 ! has answer standard unit Percent property_value: SCDO:1000518 "Record the levels of Hb A if measured." xsd:string property_value: SCDO:1000519 "hba2" xsd:string property_value: SCDO:1000735 "Laboratory Results: Hemoglobin Characterisation (PhenX protocol PX0830301 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "%" xsd:string property_value: SCDO:1000739 "2" xsd:integer property_value: SCDO:1000741 "Number" xsd:string property_value: SCDO:1000742 "[scd_hemoglobin_assay_results(1)] = '1'" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000692 name: Hemoglobin S Level def: "The amount of hemoglobin S present in a specified volume of blood." [] synonym: "Haemoglobin S Level" EXACT [] is_a: SCDO:0000546 ! Hemoglobin Profile relationship: SCDO:1000190 SCDO:0000547 ! obtained via diagnostic tool Hemoglobin Profile Assay relationship: SCDO:1000772 SCDO:1000784 ! has possible finding Absent Hemoglobin S relationship: SCDO:1000772 SCDO:1000844 ! has possible finding Hemoglobin S Present property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000693 name: SickleInAfrica CDE - Hemoglobin S Level Question def: "The Sickle in Africa core data element that collects the proportion of the respondent's hemoglobin that consists of hemoglobin S." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 SCDO:1000692 ! collects Hemoglobin S Level relationship: SCDO:1000771 UO:0000187 ! has answer standard unit Percent property_value: SCDO:1000518 "Record the levels of Hb S if measured." xsd:string property_value: SCDO:1000519 "hbs" xsd:string property_value: SCDO:1000735 "Laboratory Results: Hemoglobin Characterisation (PhenX protocol PX0830301 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "%" xsd:string property_value: SCDO:1000739 "4" xsd:integer property_value: SCDO:1000741 "Number" xsd:string property_value: SCDO:1000742 "[scd_hemoglobin_assay_results(3)] = '1'" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000694 name: SickleInAfrica CDE - Hemoglobin C Level Question def: "The Sickle in Africa core data element that collects the proportion of the respondent's hemoglobin that consists of hemoglobin C." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 SCDO:1000695 ! collects Hemoglobin C Level relationship: SCDO:1000771 UO:0000187 ! has answer standard unit Percent property_value: SCDO:1000518 "Record the levels of Hb C if measured." xsd:string property_value: SCDO:1000519 "hbc" xsd:string property_value: SCDO:1000735 "Laboratory Results: Hemoglobin Characterisation (PhenX protocol PX0830301 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "%" xsd:string property_value: SCDO:1000739 "5" xsd:integer property_value: SCDO:1000741 "Number" xsd:string property_value: SCDO:1000742 "[scd_hemoglobin_assay_results(4)] = '1'" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000695 name: Hemoglobin C Level def: "The amount of hemoglobin C present in a specified volume of blood." [] synonym: "Haemoglobin C Level" EXACT [] is_a: SCDO:0000546 ! Hemoglobin Profile relationship: SCDO:1000190 SCDO:0000547 ! obtained via diagnostic tool Hemoglobin Profile Assay relationship: SCDO:1000772 SCDO:1000036 ! has possible finding Hemoglobin C Present relationship: SCDO:1000772 SCDO:1000806 ! has possible finding Absent Hemoglobin C property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000696 name: SickleInAfrica CDE - Hemoglobin E Level Question def: "The Sickle in Africa core data element that collects the proportion of the respondent's hemoglobin that consists of hemoglobin E." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 SCDO:1000697 ! collects Hemoglobin E Level relationship: SCDO:1000771 UO:0000187 ! has answer standard unit Percent property_value: SCDO:1000518 "Record the levels of Hb E if measured." xsd:string property_value: SCDO:1000519 "hbe" xsd:string property_value: SCDO:1000735 "Laboratory Results: Hemoglobin Characterisation (PhenX protocol PX0830301 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "%" xsd:string property_value: SCDO:1000739 "6" xsd:integer property_value: SCDO:1000741 "Number" xsd:string property_value: SCDO:1000742 "[scd_hemoglobin_assay_results(5)] = '1'" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000697 name: Hemoglobin E Level def: "The amount of hemoglobin E present in a specified volume of blood." [] synonym: "Haemoglobin E Level" EXACT [] is_a: SCDO:0000546 ! Hemoglobin Profile relationship: SCDO:1000190 SCDO:0000547 ! obtained via diagnostic tool Hemoglobin Profile Assay relationship: SCDO:1000772 SCDO:1000179 ! has possible finding Absent Hemoglobin E relationship: SCDO:1000772 SCDO:1000181 ! has possible finding Hemoglobin E Present property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000698 name: Hemoglobin A2 Level def: "The amount of hemoglobin A2 present in a specified volume of blood." [] synonym: "Haemoglobin A2 Level" EXACT [] is_a: SCDO:0000546 ! Hemoglobin Profile relationship: SCDO:1000190 SCDO:0000547 ! obtained via diagnostic tool Hemoglobin Profile Assay relationship: SCDO:1000772 HP:0045048 ! has possible finding Increased Hemoglobin A2 relationship: SCDO:1000772 SCDO:1000187 ! has possible finding Normal Hemoglobin A2 Level property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000699 name: SickleInAfrica CDE - Hemoglobin A2 Level Question def: "The Sickle in Africa core data element that collects the proportion of the respondent's hemoglobin that consists of hemoglobin A2." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 SCDO:1000698 ! collects Hemoglobin A2 Level relationship: SCDO:1000771 UO:0000187 ! has answer standard unit Percent property_value: SCDO:1000518 "Record the levels of Hb A2 if measured." xsd:string property_value: SCDO:1000519 "hb_a2" xsd:string property_value: SCDO:1000735 "Laboratory Results: Hemoglobin Characterisation (PhenX protocol PX0830301 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "%" xsd:string property_value: SCDO:1000739 "7" xsd:integer property_value: SCDO:1000741 "Number" xsd:string property_value: SCDO:1000742 "[scd_hemoglobin_assay_results(6)] = '1'" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000700 name: SickleInAfrica CDE - Hemoglobin D-Punjab Level Question def: "The Sickle in Africa core data element that collects the proportion of the respondent's hemoglobin that consists of hemoglobin D-Punjab." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 SCDO:1000701 ! collects Hemoglobin D-Punjab Level relationship: SCDO:1000771 UO:0000187 ! has answer standard unit Percent property_value: SCDO:1000518 "Record the levels of Hb D-Punjab if measured." xsd:string property_value: SCDO:1000519 "hb_dpunjab" xsd:string property_value: SCDO:1000735 "Laboratory Results: Hemoglobin Characterisation (PhenX protocol PX0830301 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "%" xsd:string property_value: SCDO:1000739 "8" xsd:integer property_value: SCDO:1000741 "Number" xsd:string property_value: SCDO:1000742 "[scd_hemoglobin_assay_results(7)] = '1'" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000701 name: Hemoglobin D-Punjab Level def: "The amount of hemoglobin D-Punjab present in a specified volume of blood." [] synonym: "Haemoglobin D-Punjab Level" EXACT [] is_a: SCDO:0000546 ! Hemoglobin Profile relationship: SCDO:1000190 SCDO:0000547 ! obtained via diagnostic tool Hemoglobin Profile Assay relationship: SCDO:1000772 SCDO:1000289 ! has possible finding Hemoglobin D-Punjab Present relationship: SCDO:1000772 SCDO:1000816 ! has possible finding Absent Hemoglobin D-Punjab property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000702 name: SickleInAfrica CDE - Hemoglobin G-Philadelphia Level Question def: "The Sickle in Africa core data element that collects the proportion of the respondent's hemoglobin that consists of hemoglobin G-Philadelphia." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 SCDO:1000703 ! collects Hemoglobin G-Philadelphia Level relationship: SCDO:1000771 UO:0000187 ! has answer standard unit Percent property_value: SCDO:1000518 "Record the levels of Hb G-Philadelphia if measured." xsd:string property_value: SCDO:1000519 "hb_gphilidelphia" xsd:string property_value: SCDO:1000735 "Laboratory Results: Hemoglobin Characterisation (PhenX protocol PX0830301 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "%" xsd:string property_value: SCDO:1000739 "9" xsd:integer property_value: SCDO:1000741 "Number" xsd:string property_value: SCDO:1000742 "[scd_hemoglobin_assay_results(8)] = '1'" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000703 name: Hemoglobin G-Philadelphia Level def: "The amount of hemoglobin G-Philadelphia present in a specified volume of blood." [] synonym: "Haemoglobin G-Philadelphia Level" EXACT [] is_a: SCDO:0000546 ! Hemoglobin Profile relationship: SCDO:1000190 SCDO:0000547 ! obtained via diagnostic tool Hemoglobin Profile Assay relationship: SCDO:1000772 SCDO:1000290 ! has possible finding Hemoglobin G-Philadelphia Present relationship: SCDO:1000772 SCDO:1000817 ! has possible finding Absent Hemoglobin G-Philadelphia property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000704 name: SickleInAfrica CDE - Hemoglobin O-Arab Level Question def: "The Sickle in Africa core data element that collects the proportion of the respondent's hemoglobin that consists of hemoglobin O-Arab." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 SCDO:1000705 ! collects Hemoglobin O-Arab Level relationship: SCDO:1000771 UO:0000187 ! has answer standard unit Percent property_value: SCDO:1000518 "Record the levels of Hb O-Arab if measured." xsd:string property_value: SCDO:1000519 "hb_o_arab" xsd:string property_value: SCDO:1000735 "Laboratory Results: Hemoglobin Characterisation (PhenX protocol PX0830301 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "%" xsd:string property_value: SCDO:1000739 "10" xsd:integer property_value: SCDO:1000741 "Number" xsd:string property_value: SCDO:1000742 "[scd_hemoglobin_assay_results(9)] = '1'" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000705 name: Hemoglobin O-Arab Level def: "The amount of hemoglobin O-Arab present in a specified volume of blood." [] synonym: "Haemoglobin O-Arab Level" EXACT [] is_a: SCDO:0000546 ! Hemoglobin Profile relationship: SCDO:1000190 SCDO:0000547 ! obtained via diagnostic tool Hemoglobin Profile Assay relationship: SCDO:1000772 SCDO:1000291 ! has possible finding Hemoglobin O-Arab Present relationship: SCDO:1000772 SCDO:1000818 ! has possible finding Absent Hemoglobin O-Arab property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000706 name: SickleInAfrica CDE - Hemoglobin F Level Question def: "The Sickle in Africa core data element that collects the proportion of the respondent's hemoglobin that consists of hemoglobin F." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 SCDO:1000707 ! collects Hemoglobin F Level relationship: SCDO:1000771 UO:0000187 ! has answer standard unit Percent property_value: SCDO:1000518 "Record the levels of Hb F if measured." xsd:string property_value: SCDO:1000519 "hbf_percent" xsd:string property_value: SCDO:1000735 "Laboratory Results: Hemoglobin Characterisation (PhenX protocol PX0830301 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "%" xsd:string property_value: SCDO:1000739 "3" xsd:integer property_value: SCDO:1000741 "Number" xsd:string property_value: SCDO:1000742 "[scd_hemoglobin_assay_results(2)] = '1'" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000707 name: Hemoglobin F Level def: "The amount of hemoglobin F present in a specified volume of blood." [] synonym: "Haemoglobin F Level" EXACT [] is_a: SCDO:0000546 ! Hemoglobin Profile relationship: SCDO:1000005 SCDO:0000094 ! modified by BCL11A relationship: SCDO:1000005 SCDO:0000117 ! modified by Beta-Globin Haplotype relationship: SCDO:1000005 SCDO:0000580 ! modified by Hydroxyurea relationship: SCDO:1000005 SCDO:0000810 ! modified by Non-Globin Gene relationship: SCDO:1000005 SCDO:1000063 ! modified by HBB, 106-KB DEL relationship: SCDO:1000015 SCDO:0000251 ! modifies Clinical Phenotype of Beta Thalassemia relationship: SCDO:1000015 SCDO:0000895 ! modifies Phenotype of Sickle Cell Disease relationship: SCDO:1000190 CHMO:0001009 ! obtained via diagnostic tool High-Performance Liquid Chromatography relationship: SCDO:1000190 SCDO:0000182 ! obtained via diagnostic tool Capillary Electrophoresis relationship: SCDO:1000190 SCDO:0000547 ! obtained via diagnostic tool Hemoglobin Profile Assay relationship: SCDO:1000772 HP:0011904 ! has possible finding Increased Hemoglobin F relationship: SCDO:1000772 SCDO:1000292 ! has possible finding Normal Hemoglobin F Level property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000708 name: Sex of Spouse def: "The sex of the respondent's spouse, as provided by the respondent." [] is_a: NCIT:C16495 ! Demographic Factor property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000709 name: Sex of Partner def: "The sex of the respondent's partner (where the partner is not a spouse), as provided by the respondent." [] is_a: NCIT:C16495 ! Demographic Factor property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000711 name: SickleInAfrica CDE - Body Temperature Question def: "The Sickle in Africa core data element that collects the respondent's body temperature." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 CMO:0000015 ! collects Body Temperature relationship: SCDO:1000771 NCIT:C42559 ! has answer standard unit Degree Celsius property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000518 "Patient's body temperature" xsd:string property_value: SCDO:1000519 "body_temperature" xsd:string property_value: SCDO:1000735 "Vital Signs" xsd:string property_value: SCDO:1000737 "degrees Celsius" xsd:string property_value: SCDO:1000739 "1" xsd:integer property_value: SCDO:1000741 "Number" xsd:string property_value: SCDO:1000743 "13" xsd:integer property_value: SCDO:1000744 "46" xsd:integer property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000714 name: SickleInAfrica CDE - Respiratory Rate Question def: "The Sickle in Africa core data element that collects the respondent's respiratory rate." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 SCDO:0000993 ! collects Respiratory Rate relationship: SCDO:1000771 NCIT:C49674 ! has answer standard unit Breaths per Minute property_value: SCDO:1000518 "Patient's respiratory rate" xsd:string property_value: SCDO:1000519 "respiratory_rate" xsd:string property_value: SCDO:1000735 "Vital Signs" xsd:string property_value: SCDO:1000737 "breaths per minute" xsd:string property_value: SCDO:1000739 "3" xsd:integer property_value: SCDO:1000741 "Number" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000717 name: SickleInAfrica CDE - Partial Pressure CO2 Question def: "The Sickle in Africa core data element that collects the respondent's partial pressure of carbon dioxide in their arterial blood, as measured by an arterial blood gas test." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 CMO:0000283 ! collects Partial Pressure of Carbon Dioxide relationship: SCDO:1000771 UO:0000272 ! has answer standard unit mmHg property_value: SCDO:1000518 "Partial pressure of carbon dioxide (PaCO2)" xsd:string property_value: SCDO:1000519 "partial_pressure_co2" xsd:string property_value: SCDO:1000735 "Arterial blood gas - ABG (PhenX protocol PX090201 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "mmHg" xsd:string property_value: SCDO:1000739 "1" xsd:integer property_value: SCDO:1000741 "Number" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000722 name: SickleInAfrica CDE - Partial Pressure O2 Question def: "The Sickle in Africa core data element that collects the respondent's partial pressure of oxygen their arterial blood, as measured by an arterial blood gas test." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 SCDO:1000723 ! collects Partial Pressure of Oxygen relationship: SCDO:1000771 UO:0000272 ! has answer standard unit mmHg property_value: SCDO:1000518 "Partial pressure of oxygen (PaO2)" xsd:string property_value: SCDO:1000519 "partial_pressure_of_oxygen" xsd:string property_value: SCDO:1000735 "Arterial blood gas - ABG (PhenX protocol PX090201 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "mmHg" xsd:string property_value: SCDO:1000739 "2" xsd:integer property_value: SCDO:1000741 "Number" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000723 name: Partial Pressure of Oxygen def: "The pressure exerted by oxygen dissolved in the blood, indicating how well oxygen is able to move from the airspace of the lungs into the blood." [] synonym: "Oxygen Tension" EXACT [] synonym: "PaO2" EXACT [] synonym: "Partial Pressure of Blood Oxygen" EXACT [] synonym: "Partial Pressure of Blood Oxygen (Po2)" EXACT [] synonym: "Partial Pressure of Oxygen (PaO2)" EXACT [] synonym: "Po2" EXACT [] xref: CMO:0000381 is_a: CMO:0000225 ! Arterial Blood Gas Measurement relationship: SCDO:1000190 SCDO:0000071 ! obtained via diagnostic tool Arterial Blood Gas Test relationship: SCDO:1000772 SCDO:1000819 ! has possible finding Decreased Partial Pressure of Oxygen relationship: SCDO:1000772 SCDO:1000838 ! has possible finding Normal Partial Pressure of Oxygen property_value: SCDO:1000288 "Few but available definitions not adequate" xsd:string [Term] id: SCDO:1000724 name: SickleInAfrica CDE - Oxyhemoglobin Saturation Question def: "The Sickle in Africa core data element that collects the respondent's arterial oxygen saturation (oxyhemoglobin saturation), as measured by an arterial blood gas test." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 SCDO:0000849 ! collects Arterial Oxygen Saturation relationship: SCDO:1000771 UO:0000187 ! has answer standard unit Percent property_value: SCDO:1000518 "Oxyhemoglobin saturation (HbO2)" xsd:string property_value: SCDO:1000519 "oxyhemoglobin_saturation" xsd:string property_value: SCDO:1000735 "Arterial blood gas - ABG (PhenX protocol PX090201 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "%" xsd:string property_value: SCDO:1000739 "3" xsd:integer property_value: SCDO:1000741 "Number" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000725 name: SickleInAfrica CDE - Carboxyhemoglobin Question def: "The Sickle in Africa core data element that collects the respondent's carboxyhemoglobin to total hemoglobin ratio, as measured by an arterial blood gas test." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 SCDO:1000728 ! collects Carboxyhemoglobin to Total Hemoglobin Ratio relationship: SCDO:1000771 UO:0000187 ! has answer standard unit Percent property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000518 "Carboxyhemoglobin (COHb)" xsd:string property_value: SCDO:1000519 "carboxyhemoglobin" xsd:string property_value: SCDO:1000735 "Arterial blood gas - ABG (PhenX protocol PX090201 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "%" xsd:string property_value: SCDO:1000739 "4" xsd:integer property_value: SCDO:1000741 "Number" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000726 name: SickleInAfrica CDE - Methemoglobin Question def: "The Sickle in Africa core data element that collects the respondent's methemoglobin to total hemoglobin ratio, as measured by an arterial blood gas test." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 SCDO:1000727 ! collects Methemoglobin to Total Hemoglobin Ratio relationship: SCDO:1000771 UO:0000187 ! has answer standard unit Percent property_value: SCDO:1000518 "Methemoglobin (MetHb)" xsd:string property_value: SCDO:1000519 "methemoglobin" xsd:string property_value: SCDO:1000735 "Arterial blood gas - ABG (PhenX protocol PX090201 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "%" xsd:string property_value: SCDO:1000739 "5" xsd:integer property_value: SCDO:1000741 "Number" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000727 name: Methemoglobin to Total Hemoglobin Ratio def: "The ratio of methemoglobin compared to total hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage." [] synonym: "HGBMHGB" EXACT [] synonym: "MetHb Saturation" EXACT [] synonym: "Methemoglobin Saturation" EXACT [] synonym: "Methemoglobin to Total Hemoglobin Ratio Measurement" EXACT [] synonym: "Methemoglobin/Total Hemoglobin" EXACT [] xref: EFO:0009226 is_a: CMO:0000508 ! Hemoglobin Measurement relationship: SCDO:1000190 SCDO:0000071 ! obtained via diagnostic tool Arterial Blood Gas Test relationship: SCDO:1000772 SCDO:1000729 ! has possible finding Increased Methemoglobin relationship: SCDO:1000772 SCDO:1000815 ! has possible finding Normal Methemoglobin Level property_value: SCDO:0000340 EFO:0009226 property_value: SCDO:1000288 "Used term from existing ontology but will suggest they update their label and description to ours." xsd:string [Term] id: SCDO:1000728 name: Carboxyhemoglobin to Total Hemoglobin Ratio def: "The ratio of carboxyhemoglobin compared to total hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage." [] synonym: "Carboxyhemoglobin Saturation" EXACT [] synonym: "Carboxyhemoglobin/Total Hemoglobin" EXACT [] synonym: "COHb Saturation" EXACT [] xref: EFO:0009203 is_a: CMO:0000508 ! Hemoglobin Measurement relationship: SCDO:1000190 SCDO:0000071 ! obtained via diagnostic tool Arterial Blood Gas Test relationship: SCDO:1000772 SCDO:1000807 ! has possible finding Increased Carboxyhemoglobin relationship: SCDO:1000772 SCDO:1000814 ! has possible finding Normal Carboxyhemoglobin Level property_value: SCDO:0000340 EFO:0009203 property_value: SCDO:1000288 "Used term from existing ontology but will suggest they update their label and description to ours." xsd:string [Term] id: SCDO:1000729 name: Increased Methemoglobin def: "An elevated concentration in the blood of methemoglobin, which is the ferric (Fe(3+)) form of hemoglobin." [] comment: Injury or toxic agents can convert a larger proportion of hemoglobin to methemoglobin, which does not function reversibly as an oxygen carrier and thus less oxygen is made available to the tissues. synonym: "Methemoglobin Increased" EXACT [] synonym: "Raised Methemoglobin" EXACT [] is_a: HP:0020063 ! Increased Hemoglobin Concentration property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000730 name: Site Participant Number def: "A site-specific unique identifier assigned to a study participant by the data collectors at the data collection site." [] is_a: NCIT:C69256 ! Subject Unique Identifier property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000731 name: SCD Passport Number def: "A unique identifier provided on SCD passports." [] is_a: NCIT:C69256 ! Subject Unique Identifier property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000732 name: SickleInAfrica CDE - SickleInAfrica Participant Number def: "The Sickle in Africa core data element that records the unique identifier that was assigned to the study participant's data when it was registered in the SickleInAfrica data registry." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000528 SCDO:1000470 ! collects SickleInAfrica Participant Number property_value: SCDO:1000518 "SickleInAfrica Participant Number" xsd:string property_value: SCDO:1000519 "record_id" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000734 name: SickleInAfrica CDE - Age In Months Calculation def: "The Sickle in Africa core data element that calculates the respondent's age in months, using the visit date and birth date collected by other core data elements." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000528 SCDO:1000545 ! collects Calculated Current Age (Months) property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000518 "Calculated age (in months)" xsd:string property_value: SCDO:1000519 "calc_age_on_day_of_visit" xsd:string property_value: SCDO:1000735 "Demographics" xsd:string property_value: SCDO:1000736 "datediff([date_today],[date_of_birth], \"M\",\"dmy\")" xsd:string property_value: SCDO:1000737 "Age on day of visit" xsd:string property_value: SCDO:1000739 "10" xsd:integer property_value: SCDO:1000748 "RH" xsd:string property_value: SCDO:1000749 "calc" xsd:string [Term] id: SCDO:1000738 name: SickleInAfrica Core Data Element Instrument def: "A data capture instrument designed and applied by the Sickle In Africa Consortium." [] is_a: NCIT:C91105 ! Clinical or Research Assessment Questionnaire property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string property_value: SCDO:1000740 "Consent\nDemographics\nSCD Diagnosis Details\nManagement Details\nLaboratory Results: Complete Blood Count (PhenX protocol PX220501 unless stated otherwise)\nKidney Function Assay (Phenx protocols PX141401, PX141501 and PX141601 unless stated otherwise)\nLiver Function Assay (PhenX protocol PX190801 unless stated otherwise)\nLaboratory Results: Bilirubin Level (PhenX protocol PX0810901 unless stated otherwise)\nLaboratory Results: Lactate Dehydrogenase Level (PhenX protocol PX0811001 unless stated otherwise)\nLaboratory Results: Reticulocyte Count (PhenX protocol PX0810601 unless stated otherwise)\nLaboratory Results: Hemoglobin Characterisation (PhenX protocol PX0830301 unless stated otherwise)\nArterial blood gas - ABG (PhenX protocol PX090201 unless stated otherwise)" xsd:string [Term] id: SCDO:1000751 name: SickleInAfrica CDE - Total Hemoglobin Question def: "The Sickle in Africa core data element that collects the total concentration of hemoglobin in the respondent's blood." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 CMO:0000506 ! collects Hemoglobin Concentration relationship: SCDO:1000771 NCIT:C64783 ! has answer standard unit g/dL property_value: SCDO:1000518 "Total hemoglobin (Hbtotal)" xsd:string property_value: SCDO:1000519 "total_hemoglobin" xsd:string property_value: SCDO:1000735 "Laboratory Results: Hemoglobin Characterisation (PhenX protocol PX0830301 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "g/dL" xsd:string property_value: SCDO:1000739 "11" xsd:integer property_value: SCDO:1000741 "Number" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000753 name: Body Temperature - Oral Measurement Assay def: "An assay to determine the body temperature of an evaluant using an oral thermometer." [] synonym: "Oral Temperature Taking" EXACT [] is_a: OBI:0002140 ! Temperature Measurement Assay property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000340 https://www.phenxtoolkit.org/protocols/view/810102?origin=search property_value: SCDO:0000479 "PhenX protocol: Body Temperature - Oral Thermometers #810102" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000754 name: Body Temperature - Tympanic Measurement Assay def: "An assay to determine the body temperature of an evaluant using a tympanic (i.e. ear) thermometer." [] synonym: "Tympanic Temperature Taking" EXACT [] is_a: OBI:0002140 ! Temperature Measurement Assay property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000479 "PhenX protocol: Body Temperature - Tympanic Thermometers #810101" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000755 name: Oral Temperature def: "The temperature of the oral cavity." [] synonym: "Oral Body Temperature" EXACT [] xref: VSO:0000025 is_a: CMO:0000015 ! Body Temperature property_value: SCDO:0000340 VSO:0000025 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000755 xsd:string [Term] id: SCDO:1000756 name: Tympanic Temperature def: "The temperature of the external acoustic tube." [] synonym: "Tympanic (ear) Temperature" EXACT [] synonym: "Tympanic Body Temperature" EXACT [] xref: VSO:0000045 is_a: CMO:0000015 ! Body Temperature property_value: SCDO:0000340 VSO:0000045 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000756 xsd:string [Term] id: SCDO:1000757 name: Rectal Temperature def: "The temperature of the lumen of the rectum." [] synonym: "Rectal Body Temperature" EXACT [] xref: VSO:0000033 is_a: CMO:0000015 ! Body Temperature property_value: SCDO:0000340 VSO:0000033 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000757 xsd:string [Term] id: SCDO:1000758 name: Axillary Temperature def: "The temperature of the axillary fossa." [] synonym: "Armpit Temperature" EXACT [] synonym: "Axillary (armpit) Temperature" EXACT [] xref: VSO:0000003 is_a: CMO:0000015 ! Body Temperature property_value: SCDO:0000340 VSO:0000003 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000758 xsd:string [Term] id: SCDO:1000759 name: SickleInAfrica CDE - Type of Temperature Question def: "The Sickle in Africa core data element that records the type of body temperature that was taken for the respondent." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000496 ! is question type Multiple Choice Single Selection Question relationship: SCDO:1000526 SCDO:1000755 ! has answer option Oral Temperature relationship: SCDO:1000526 SCDO:1000756 ! has answer option Tympanic Temperature relationship: SCDO:1000526 SCDO:1000757 ! has answer option Rectal Temperature relationship: SCDO:1000526 SCDO:1000758 ! has answer option Axillary Temperature relationship: SCDO:1000528 SCDO:1000763 ! collects Type of Body Temperature property_value: SCDO:1000517 "1, Oral Temperature\n2, Tympanic (ear) Temperature\n3, Axillary (armpit) Temperature\n4, Rectal Temperature" xsd:string property_value: SCDO:1000518 "Type of body temperature taken" xsd:string property_value: SCDO:1000519 "type_of_temp" xsd:string property_value: SCDO:1000735 "Vital Signs" xsd:string property_value: SCDO:1000739 "2" xsd:integer property_value: SCDO:1000749 "dropdown" xsd:string [Term] id: SCDO:1000763 name: Type of Body Temperature is_a: SCDO:1000576 ! Diagnostic Measurement Descriptor [Term] id: SCDO:1000766 name: Year 1900 - Current def: "An answer to a question where the answer is a year between 1900 and the current year, selected from a provided list of years." [] is_a: NCIT:C91106 ! Clinical or Research Assessment Answer property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000767 name: Month 1 - 12 def: "An answer to a question where the answer is a month between 1 - 12, selected form a list of months." [] is_a: NCIT:C91106 ! Clinical or Research Assessment Answer property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000768 name: Acide is_a: SCDO:1000577 ! Type of SCD Test property_value: SCDO:0000303 "Waiting for description for this." xsd:string [Term] id: SCDO:1000769 name: Basique def: "Waiting for description for this." [] is_a: SCDO:1000577 ! Type of SCD Test [Term] id: SCDO:1000774 name: D57.03 Hb-SS disease with cerebral vascular involvement def: "-" [] synonym: "D57.03" EXACT [] synonym: "Hb-SS disease with cerebral vascular involvement" EXACT [] synonym: "Sickle cell anemia with cerebral vascular involvement" EXACT [] xref: ICD10CM:D57.03 is_a: SCDO:0000312 ! D57.0 Hb-SS disease with crisis relationship: SCDO:1000785 NCIT:C131682 ! code requires phenotype Sickle Cell Disease-SS relationship: SCDO:1000785 SCDO:0001053 ! code requires phenotype Sickle Cell Painful Event relationship: SCDO:1000785 SCDO:1000037 ! code requires phenotype Abnormality of the Cerebral Vasculature property_value: http://purl.org/dc/elements/1.1/source https://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.03 property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000775 name: D57.09 Hb-SS disease with crisis with other specified complication def: "-" [] synonym: "D57.09" EXACT [] synonym: "Hb-SS disease with crisis with other specified complication" EXACT [] synonym: "Sickle cell anemia with crisis with other specified complication" EXACT [] xref: ICD10CM:D57.09 is_a: SCDO:0000312 ! D57.0 Hb-SS disease with crisis relationship: SCDO:1000785 NCIT:C131682 ! code requires phenotype Sickle Cell Disease-SS relationship: SCDO:1000785 SCDO:0001053 ! code requires phenotype Sickle Cell Painful Event property_value: http://purl.org/dc/elements/1.1/source https://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.09 property_value: SCDO:1000176 "yes" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000783 name: Normal Hemoglobin Concentration def: "When there is no deviation from the normal concentration of hemoglobin in the blood." [] is_a: SCDO:0009613 ! Protein Phenotype is_a: SCDO:1000821 ! Normal Hematopoietic System Phenotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000784 name: Absent Hemoglobin S def: "A lack of production of hemoglobin S." [] synonym: "Absent Haemoglobin S" EXACT [] synonym: "Haemoglobin S Absent" EXACT [] synonym: "Hemoglobin S Absent" EXACT [] synonym: "Normal Haemoglobin S Level" EXACT [] synonym: "Normal Hemoglobin S Level" EXACT [] xref: MEDDRA:10055604 is_a: SCDO:1000783 ! Normal Hemoglobin Concentration property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000786 name: D57.213 Sickle-cell/Hb-C disease with cerebral vascular involvement def: "-" [] synonym: "D57.213" EXACT [] synonym: "Sickle Cell Disease-SC with cerebral vascular involvement" EXACT [] synonym: "Sickle-cell/Hb-C disease with cerebral vascular involvement" EXACT [] xref: ICD10CM:D57.213 is_a: SCDO:0000318 ! D57.21 Sickle-cell/Hb-C disease with crisis relationship: SCDO:1000785 SCDO:0001053 ! code requires phenotype Sickle Cell Painful Event relationship: SCDO:1000785 SCDO:0001059 ! code requires phenotype Sickle Cell Disease-SC relationship: SCDO:1000785 SCDO:1000037 ! code requires phenotype Abnormality of the Cerebral Vasculature property_value: http://purl.org/dc/elements/1.1/source https://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.213 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000787 name: D57.218 Sickle-cell/Hb-C disease with crisis with other specified complication def: "-" [] synonym: "D57.218" EXACT [] synonym: "Sickle Cell Disease-SC with crisis with other specified complication" EXACT [] synonym: "Sickle-cell/Hb-C disease with crisis with other specified complication" EXACT [] xref: ICD10CM:D57.218 is_a: SCDO:0000318 ! D57.21 Sickle-cell/Hb-C disease with crisis relationship: SCDO:1000785 SCDO:0001053 ! code requires phenotype Sickle Cell Painful Event relationship: SCDO:1000785 SCDO:0001059 ! code requires phenotype Sickle Cell Disease-SC property_value: http://purl.org/dc/elements/1.1/source https://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.218 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000788 name: D57.413 Sickle-cell thalassemia, unspecified, with cerebral vascular involvement def: "-" [] synonym: "D57.413" EXACT [] xref: ICD10CM:D57.413 is_a: SCDO:0000325 ! D57.41 Sickle-cell thalassemia, unspecified, with crisis relationship: SCDO:1000785 NCIT:C95539 ! code requires phenotype Sickle Beta Thalassemia relationship: SCDO:1000785 SCDO:0001053 ! code requires phenotype Sickle Cell Painful Event relationship: SCDO:1000785 SCDO:1000037 ! code requires phenotype Abnormality of the Cerebral Vasculature property_value: http://purl.org/dc/elements/1.1/source https://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.413 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000789 name: D57.418 Sickle-cell thalassemia, unspecified, with crisis with other specified complication def: "-" [] synonym: "D57.418" EXACT [] synonym: "Sickle-cell thalassemia, unspecified, with crisis with other specified complication" EXACT [] xref: ICD10CM:D57.418 is_a: SCDO:0000325 ! D57.41 Sickle-cell thalassemia, unspecified, with crisis relationship: SCDO:1000785 NCIT:C95539 ! code requires phenotype Sickle Beta Thalassemia relationship: SCDO:1000785 SCDO:0001053 ! code requires phenotype Sickle Cell Painful Event property_value: http://purl.org/dc/elements/1.1/source https://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.418 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000790 name: D57.42 Sickle-cell thalassemia beta zero without crisis def: "-" [] synonym: "D57.42" EXACT [] synonym: "Sickle-cell thalassemia beta zero without crisis" EXACT [] xref: ICD10CM:D57.42 is_a: SCDO:0000323 ! D57.4 Sickle-cell thalassemia relationship: SCDO:1000785 NCIT:C3833 ! code requires phenotype Asymptomatic relationship: SCDO:1000785 NCIT:C98835 ! code requires phenotype Sickle Cell Disease-S Beta Zero Thalassemia property_value: http://purl.org/dc/elements/1.1/source https://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.42 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000791 name: D57.43 Sickle-cell thalassemia beta zero with crisis def: "-" [] synonym: "D57.43" EXACT [] synonym: "Sickle-cell thalassemia beta zero with crisis" EXACT [] xref: ICD10CM:D57.43 is_a: SCDO:0000323 ! D57.4 Sickle-cell thalassemia relationship: SCDO:1000785 NCIT:C98835 ! code requires phenotype Sickle Cell Disease-S Beta Zero Thalassemia relationship: SCDO:1000785 SCDO:0001053 ! code requires phenotype Sickle Cell Painful Event property_value: http://purl.org/dc/elements/1.1/source https://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.43 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000792 name: D57.431 Sickle-cell thalassemia beta zero with acute chest syndrome def: "-" [] synonym: "D57.431" EXACT [] synonym: "Sickle-cell thalassemia beta zero with acute chest syndrome" EXACT [] xref: ICD10CM:D57.431 is_a: SCDO:1000791 ! D57.43 Sickle-cell thalassemia beta zero with crisis relationship: SCDO:1000785 DOID:1584 ! code requires phenotype Acute Chest Syndrome relationship: SCDO:1000785 NCIT:C98835 ! code requires phenotype Sickle Cell Disease-S Beta Zero Thalassemia relationship: SCDO:1000785 SCDO:0001053 ! code requires phenotype Sickle Cell Painful Event property_value: http://purl.org/dc/elements/1.1/source https://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.431 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000793 name: D57.432 Sickle-cell thalassemia beta zero with splenic sequestration def: "-" [] synonym: "D57.432" EXACT [] synonym: "Sickle-cell thalassemia beta zero with splenic sequestration" EXACT [] xref: ICD10CM:D57.432 is_a: SCDO:1000791 ! D57.43 Sickle-cell thalassemia beta zero with crisis relationship: SCDO:1000785 NCIT:C98835 ! code requires phenotype Sickle Cell Disease-S Beta Zero Thalassemia relationship: SCDO:1000785 SCDO:0007161 ! code requires phenotype Acute Splenic Sequestration Crisis property_value: http://purl.org/dc/elements/1.1/source https://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.432 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000794 name: D57.433 Sickle-cell thalassemia beta zero with cerebral vascular involvement def: "-" [] synonym: "D57.433" EXACT [] synonym: "Sickle-cell thalassemia beta zero with cerebral vascular involvement" EXACT [] xref: ICD10CM:D57.433 is_a: SCDO:1000791 ! D57.43 Sickle-cell thalassemia beta zero with crisis relationship: SCDO:1000785 NCIT:C98835 ! code requires phenotype Sickle Cell Disease-S Beta Zero Thalassemia relationship: SCDO:1000785 SCDO:0001053 ! code requires phenotype Sickle Cell Painful Event relationship: SCDO:1000785 SCDO:1000037 ! code requires phenotype Abnormality of the Cerebral Vasculature property_value: http://purl.org/dc/elements/1.1/source https://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.433 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000795 name: D57.438 Sickle-cell thalassemia beta zero with crisis with other specified complication def: "-" [] synonym: "D57.438" EXACT [] synonym: "Sickle-cell thalassemia beta zero with crisis with other specified complication" EXACT [] xref: ICD10CM:D57.438 is_a: SCDO:1000791 ! D57.43 Sickle-cell thalassemia beta zero with crisis relationship: SCDO:1000785 NCIT:C98835 ! code requires phenotype Sickle Cell Disease-S Beta Zero Thalassemia relationship: SCDO:1000785 SCDO:0001053 ! code requires phenotype Sickle Cell Painful Event property_value: http://purl.org/dc/elements/1.1/source https://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.438 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000796 name: D57.439 Sickle-cell thalassemia beta zero with crisis, unspecified def: "-" [] synonym: "D57.439" EXACT [] synonym: "Sickle-cell thalassemia beta zero with crisis, unspecified" EXACT [] xref: ICD10CM:D57.439 is_a: SCDO:1000791 ! D57.43 Sickle-cell thalassemia beta zero with crisis relationship: SCDO:1000785 NCIT:C98835 ! code requires phenotype Sickle Cell Disease-S Beta Zero Thalassemia relationship: SCDO:1000785 SCDO:0001053 ! code requires phenotype Sickle Cell Painful Event property_value: http://purl.org/dc/elements/1.1/source https://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.439 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000797 name: D57.44 Sickle-cell thalassemia beta plus without crisis def: "-" [] synonym: "D57.44" EXACT [] synonym: "Sickle-cell thalassemia beta minus without crisis" EXACT [] synonym: "Sickle-cell thalassemia beta plus without crisis" EXACT [] xref: ICD10CM:D57.44 is_a: SCDO:0000323 ! D57.4 Sickle-cell thalassemia relationship: SCDO:1000785 NCIT:C3833 ! code requires phenotype Asymptomatic relationship: SCDO:1000785 SCDO:0001056 ! code requires phenotype Sickle Cell Disease-S Beta Minus Thalassemia property_value: http://purl.org/dc/elements/1.1/source https://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.44 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000798 name: D57.45 Sickle-cell thalassemia beta plus with crisis def: "-" [] synonym: "D57.45" EXACT [] synonym: "Sickle-cell thalassemia beta minus with crisis" EXACT [] synonym: "Sickle-cell thalassemia beta plus with crisis" EXACT [] xref: ICD10CM:D57.45 is_a: SCDO:0000323 ! D57.4 Sickle-cell thalassemia relationship: SCDO:1000785 SCDO:0001053 ! code requires phenotype Sickle Cell Painful Event relationship: SCDO:1000785 SCDO:0001056 ! code requires phenotype Sickle Cell Disease-S Beta Minus Thalassemia property_value: http://purl.org/dc/elements/1.1/source https://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.45 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000799 name: D57.451 Sickle-cell thalassemia beta plus with acute chest syndrome def: "-" [] synonym: "D57.451" EXACT [] synonym: "Sickle-cell thalassemia beta minus with acute chest syndrome" EXACT [] synonym: "Sickle-cell thalassemia beta plus with acute chest syndrome" EXACT [] xref: ICD10CM:D57.451 is_a: SCDO:1000798 ! D57.45 Sickle-cell thalassemia beta plus with crisis relationship: SCDO:1000785 DOID:1584 ! code requires phenotype Acute Chest Syndrome relationship: SCDO:1000785 SCDO:0001053 ! code requires phenotype Sickle Cell Painful Event relationship: SCDO:1000785 SCDO:0001056 ! code requires phenotype Sickle Cell Disease-S Beta Minus Thalassemia property_value: http://purl.org/dc/elements/1.1/source https://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.451 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000800 name: D57.452 Sickle-cell thalassemia beta plus with splenic sequestration def: "-" [] synonym: "D57.452" EXACT [] synonym: "Sickle-cell thalassemia beta minus with splenic sequestration" EXACT [] synonym: "Sickle-cell thalassemia beta plus with splenic sequestration" EXACT [] xref: ICD10CM:D57.452 is_a: SCDO:1000798 ! D57.45 Sickle-cell thalassemia beta plus with crisis relationship: SCDO:1000785 SCDO:0001056 ! code requires phenotype Sickle Cell Disease-S Beta Minus Thalassemia relationship: SCDO:1000785 SCDO:0007161 ! code requires phenotype Acute Splenic Sequestration Crisis property_value: http://purl.org/dc/elements/1.1/source https://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.452 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000801 name: D57.453 Sickle-cell thalassemia beta plus with cerebral vascular involvement def: "-" [] synonym: "D57.453" EXACT [] synonym: "Sickle-cell thalassemia beta minus with cerebral vascular involvement" EXACT [] synonym: "Sickle-cell thalassemia beta plus with cerebral vascular involvement" EXACT [] xref: ICD10CM:D57.453 is_a: SCDO:1000798 ! D57.45 Sickle-cell thalassemia beta plus with crisis relationship: SCDO:1000785 SCDO:0001053 ! code requires phenotype Sickle Cell Painful Event relationship: SCDO:1000785 SCDO:0001056 ! code requires phenotype Sickle Cell Disease-S Beta Minus Thalassemia relationship: SCDO:1000785 SCDO:1000037 ! code requires phenotype Abnormality of the Cerebral Vasculature property_value: http://purl.org/dc/elements/1.1/source https://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.453 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000802 name: D57.458 Sickle-cell thalassemia beta plus with crisis with other specified complication def: "-" [] synonym: "D57.458" EXACT [] synonym: "Sickle-cell thalassemia beta minus with crisis with other specified complication" EXACT [] synonym: "Sickle-cell thalassemia beta plus with crisis with other specified complication" EXACT [] xref: ICD10CM:D57.458 is_a: SCDO:1000798 ! D57.45 Sickle-cell thalassemia beta plus with crisis relationship: SCDO:1000785 SCDO:0001053 ! code requires phenotype Sickle Cell Painful Event relationship: SCDO:1000785 SCDO:0001056 ! code requires phenotype Sickle Cell Disease-S Beta Minus Thalassemia property_value: http://purl.org/dc/elements/1.1/source https://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.458 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000803 name: D57.459 Sickle-cell thalassemia beta plus with crisis, unspecified def: "-" [] synonym: "D57.459" EXACT [] synonym: "Sickle-cell thalassemia beta minus with crisis, unspecified" EXACT [] synonym: "Sickle-cell thalassemia beta plus with crisis, unspecified" EXACT [] xref: ICD10CM:D57.459 is_a: SCDO:1000798 ! D57.45 Sickle-cell thalassemia beta plus with crisis relationship: SCDO:1000785 SCDO:0001053 ! code requires phenotype Sickle Cell Painful Event relationship: SCDO:1000785 SCDO:0001056 ! code requires phenotype Sickle Cell Disease-S Beta Minus Thalassemia property_value: http://purl.org/dc/elements/1.1/source https://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.459 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000804 name: D57.818 Other sickle-cell disorders with crisis with other specified complication def: "-" [] synonym: "D57.818" EXACT [] xref: ICD10CM:D57.818 is_a: SCDO:0000331 ! D57.81 Other sickle-cell disorders with crisis relationship: SCDO:1000785 SCDO:0001053 ! code requires phenotype Sickle Cell Painful Event property_value: http://purl.org/dc/elements/1.1/source http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.818 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000805 name: D57.813 Other sickle-cell disorders with cerebral vascular involvement def: "-" [] synonym: "D57.813" EXACT [] xref: ICD10CM:D57.813 is_a: SCDO:0000331 ! D57.81 Other sickle-cell disorders with crisis relationship: SCDO:1000785 SCDO:0001053 ! code requires phenotype Sickle Cell Painful Event relationship: SCDO:1000785 SCDO:1000037 ! code requires phenotype Abnormality of the Cerebral Vasculature property_value: http://purl.org/dc/elements/1.1/source http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.813 property_value: SCDO:1000288 "Few but definitions not freely available" xsd:string [Term] id: SCDO:1000806 name: Absent Hemoglobin C def: "A lack of production of hemoglobin C." [] synonym: "Absent Haemoglobin C" EXACT [] synonym: "Haemoglobin C Absent" EXACT [] synonym: "Hemoglobin C Absent" EXACT [] synonym: "Normal Haemoglobin C Level" EXACT [] synonym: "Normal Hemoglobin C Level" EXACT [] is_a: SCDO:1000783 ! Normal Hemoglobin Concentration property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000807 name: Increased Carboxyhemoglobin def: "An elevated concentration in the blood of carboxyhemoglobin, which is the form of hemoglobin where the heme group has formed a stable complex with carbon monoxide (CO)." [] synonym: "Carboxyhemoglobin Increased" EXACT [] synonym: "Raised Carboxyhemoglobin" EXACT [] is_a: HP:0020063 ! Increased Hemoglobin Concentration property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000808 name: Decreased Arterial Oxygen Saturation def: "An abnormal reduction in the amount of oxygen bound to hemoglobin in arterial blood expressed as a percentage of the maximal binding capacity." [] synonym: "Arterial Oxygen Saturation Decreased" EXACT [] synonym: "Decreased Arterial HbO2" EXACT [] synonym: "Decreased Arterial Oxyhemoglobin Saturation" EXACT [] synonym: "Decreased Arterial SaO2" EXACT [] synonym: "Decreased Arterial Sats" EXACT [] synonym: "Decreased Oxygen Saturation of Arterial Blood" EXACT [] synonym: "Decreased Oxyhemoglobin/Total Hemoglobin" EXACT [] synonym: "Low Arterial Oxygen Saturation" EXACT [] is_a: MP:0002329 ! Abnormal Blood Gas Level property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000812 name: Normal Metabolism/Homeostasis Phenotype def: "A phenotype of the body's metabolism or homeostasis that is not clinically abnormal." [] is_a: MP:0005376 ! Metabolism/Homeostasis Phenotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000813 name: Normal Arterial Oxygen Saturation def: "When the degree to which oxygen is bound to hemoglobin in arterial blood is in the normal range." [] synonym: "Normal Arterial Blood Oxygen Saturation" EXACT [] is_a: SCDO:1000812 ! Normal Metabolism/Homeostasis Phenotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000814 name: Normal Carboxyhemoglobin Level def: "When the level of carboxyhemoglobin detected in a sample of blood falls in the normal range for carboxyhemoglobin." [] synonym: "Carboxyhemoglobin Normal" EXACT [] synonym: "Normal Carboxyhemoglobin Concentration" EXACT [] is_a: SCDO:1000783 ! Normal Hemoglobin Concentration property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000815 name: Normal Methemoglobin Level def: "When the level of methemoglobin detected in a sample of blood falls in the normal range for methemoglobin." [] synonym: "MetHb Normal" EXACT [] synonym: "Normal MetHb Level" EXACT [] synonym: "Normal Methemoglobin Concentration" EXACT [] is_a: SCDO:1000783 ! Normal Hemoglobin Concentration property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000816 name: Absent Hemoglobin D-Punjab def: "A lack of production of hemoglobin D-Punjab." [] synonym: "Absent Haemoglobin D-Punjab" EXACT [] synonym: "Haemoglobin D-Punjab Absent" EXACT [] synonym: "Hemoglobin D-Punjab Absent" EXACT [] synonym: "Normal Haemoglobin D-Punjab Level" EXACT [] synonym: "Normal Hemoglobin D-Punjab Level" EXACT [] is_a: SCDO:1000783 ! Normal Hemoglobin Concentration property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000817 name: Absent Hemoglobin G-Philadelphia def: "A lack of production of hemoglobin G-Philadelphia." [] synonym: "Absent Haemoglobin G-Philadelphia" EXACT [] synonym: "Haemoglobin G-Philadelphia Absent" EXACT [] synonym: "Hemoglobin G-Philadelphia Absent" EXACT [] synonym: "Normal Haemoglobin G-Philadelphia Level" EXACT [] synonym: "Normal Hemoglobin G-Philadelphia Level" EXACT [] is_a: SCDO:1000783 ! Normal Hemoglobin Concentration property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000818 name: Absent Hemoglobin O-Arab def: "A lack of production of hemoglobin O-Arab." [] synonym: "Absent Haemoglobin O-Arab" EXACT [] synonym: "Haemoglobin O-Arab Absent" EXACT [] synonym: "Hemoglobin O-Arab Absent" EXACT [] synonym: "Normal Haemoglobin O-Arab Level" EXACT [] synonym: "Normal Hemoglobin O-Arab Level" EXACT [] is_a: SCDO:1000783 ! Normal Hemoglobin Concentration property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000819 name: Decreased Partial Pressure of Oxygen def: "An abnormal reduction in the pressure exerted by oxygen dissolved in the blood." [] synonym: "Arterial Oxygen Partial Pressure Decreased" EXACT [] synonym: "Decreased Oxygen Tension" EXACT [] synonym: "Decreased PaO2" EXACT [] synonym: "Decreased Partial Pressure of Blood Oxygen" EXACT [] synonym: "Decreased PO2" EXACT [] synonym: "PO2 Decreased" EXACT [] is_a: MP:0002329 ! Abnormal Blood Gas Level property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000820 name: Hematopoietic System Phenotype def: "The observable morphological and physiological characteristics of the human blood cells or the organs associated with the development and formation of blood cells that are manifested through development and lifespan." [] synonym: "Haematopoietic System Phenotype" EXACT [] synonym: "Haemopoietic System Phenotype" EXACT [] synonym: "Hemopoietic System Phenotype" EXACT [] is_a: OGMS:0000023 ! Phenotype property_value: http://purl.org/dc/elements/1.1/source MP:0005397 property_value: SCDO:1000288 "Few but definitions not specific enough" xsd:string [Term] id: SCDO:1000821 name: Normal Hematopoietic System Phenotype def: "A phenotype of the body's hematopoietic system that is not clinically abnormal." [] is_a: SCDO:1000820 ! Hematopoietic System Phenotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000822 name: Normal Red Blood Cell Count def: "When the number of red blood cells in a specified volume of blood falls in the normal range." [] synonym: "Normal RBC Count" EXACT [] synonym: "RBC Count Normal" EXACT [] synonym: "Red Blood Cell Count Normal" EXACT [] is_a: SCDO:1000821 ! Normal Hematopoietic System Phenotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000823 name: Normal White Blood Cell Count def: "When the number of white blood cells in a specified volume of blood falls in the normal range." [] synonym: "Normal WBC Count" EXACT [] synonym: "WBC Count Normal" EXACT [] synonym: "White Blood Cell Count Normal" EXACT [] is_a: SCDO:1000821 ! Normal Hematopoietic System Phenotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000824 name: Normal Platelet Count def: "When the number of platelets in a specified volume of blood falls in the normal range." [] synonym: "Platelet Count Normal" EXACT [] is_a: SCDO:1000821 ! Normal Hematopoietic System Phenotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000825 name: Normal Mean Corpuscular Volume def: "When the average volume or size of a single red blood cell falls in the normal range." [] synonym: "MCV Normal" EXACT [] synonym: "Mean Cell Volume Normal" EXACT [] synonym: "Mean Corpuscular Volume Normal" EXACT [] synonym: "Normal MCV" EXACT [] synonym: "Normal Mean Cell Volume" EXACT [] is_a: SCDO:1000821 ! Normal Hematopoietic System Phenotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000826 name: Normal Mean Corpuscular Hemoglobin def: "When the average amount of hemoglobin per red blood cell (calculated by dividing the total mass of hemoglobin by the number of red blood cells in a volume of blood) falls in the normal range." [] synonym: "MCH Normal" EXACT [] synonym: "Mean Cell Hemoglobin Normal" EXACT [] synonym: "Mean Corpuscular Hemoglobin Level Normal" EXACT [] synonym: "Mean Corpuscular Hemoglobin Normal" EXACT [] synonym: "Normal MCH" EXACT [] synonym: "Normal Mean Cell Hemoglobin" EXACT [] synonym: "Normal Mean Corpuscular Hemoglobin" EXACT [] synonym: "Normal Mean Corpuscular Hemoglobin Level" EXACT [] is_a: SCDO:1000821 ! Normal Hematopoietic System Phenotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000827 name: Normal Mean Corpuscular Hemoglobin Concentration def: "When the amount of hemoglobin in a given volume of packed red blood cells falls in the normal range." [] synonym: "MCHC Normal" EXACT [] synonym: "Mean Corpuscular Hemoglobin Concentration Normal" EXACT [] synonym: "Normal MCHC" EXACT [] synonym: "Normal Mean Cell Hemoglobin Concentration" EXACT [] is_a: SCDO:1000821 ! Normal Hematopoietic System Phenotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000828 name: Normal Red Blood Cell Distribution Width def: "When the range of variation of red blood cell (RBC) volume falls in the normal range." [] synonym: "Normal RBC Distribution Width" EXACT [] synonym: "Normal RCDW" EXACT [] synonym: "RBC Distribution Width Normal" EXACT [] synonym: "RCDW Normal" EXACT [] synonym: "Red Blood Cell Distribution Width Normal" EXACT [] is_a: SCDO:1000821 ! Normal Hematopoietic System Phenotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000829 name: Normal Serum Creatinine def: "When the level of serum creatinine is in the normal range." [] synonym: "Normal Serum Creatinine Level" EXACT [] synonym: "Serum Creatinine Level Normal" EXACT [] synonym: "Serum Creatinine Normal" EXACT [] is_a: SCDO:1000812 ! Normal Metabolism/Homeostasis Phenotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000830 name: Normal Serum Alanine Aminotransferase def: "When the level of serum alanine aminotransferase is in the normal range." [] synonym: "ALT Level Normal" EXACT [] synonym: "ALT Normal" EXACT [] synonym: "Normal Alanine Aminotransferase Level" EXACT [] synonym: "Normal Alanine Transaminase" EXACT [] synonym: "Normal ALT" EXACT [] synonym: "Normal ALT Level" EXACT [] synonym: "Normal Serum Alanine Aminotransferase Level" EXACT [] synonym: "Serum Alanine Aminotransferase Level Normal" EXACT [] synonym: "Serum Alanine Aminotransferase Normal" EXACT [] is_a: SCDO:1000812 ! Normal Metabolism/Homeostasis Phenotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000831 name: Normal Serum Aspartate Aminotransferase def: "When the level of serum aspartate aminotransferase is in the normal range." [] synonym: "AST Level Normal" EXACT [] synonym: "AST Normal" EXACT [] synonym: "Normal Aspartate Aminotransferase" EXACT [] synonym: "Normal AST" EXACT [] synonym: "Normal AST Level" EXACT [] synonym: "Normal Serum Aspartate Aminotransferase Level" EXACT [] synonym: "Normal Serum AST" EXACT [] synonym: "Serum Aspartate Aminotransferase Normal" EXACT [] synonym: "Serum AST Normal" EXACT [] is_a: SCDO:1000812 ! Normal Metabolism/Homeostasis Phenotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000832 name: Normal Serum Alkaline Phosphatase def: "When the level of serum alkaline aminotransferase is in the normal range." [] synonym: "Alkaline Phosphatase Level Normal" EXACT [] synonym: "Alkaline Phosphatase Normal" EXACT [] synonym: "AP Level Normal" EXACT [] synonym: "AP Normal" EXACT [] synonym: "Normal AP" EXACT [] synonym: "Normal AP Level" EXACT [] synonym: "Normal Serum Alkaline Phosphatase Level" EXACT [] synonym: "Normal Serum AP Level" EXACT [] is_a: SCDO:1000812 ! Normal Metabolism/Homeostasis Phenotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000833 name: Normal Lactate Dehydrogenase Level def: "When the level of the enzyme lactate dehydrogenase in the serum is in the normal range." [] synonym: "Lactate Dehydrogenase Level Normal" EXACT [] synonym: "Lactate Dehydrogenase Normal" EXACT [] synonym: "LD Level Normal" EXACT [] synonym: "LD Normal" EXACT [] synonym: "LDH Level Normal" EXACT [] synonym: "LDH Normal" EXACT [] synonym: "Normal LD" EXACT [] synonym: "Normal LD Level" EXACT [] synonym: "Normal LDH" EXACT [] synonym: "Normal LDH Level" EXACT [] is_a: SCDO:1000812 ! Normal Metabolism/Homeostasis Phenotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000834 name: Normal Reticulocyte Count def: "When the number of reticulocytes in a specified volume of blood falls in the normal range." [] synonym: "Reticulocyte Count Normal" EXACT [] is_a: SCDO:1000821 ! Normal Hematopoietic System Phenotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000835 name: Normal Total Serum Bilirubin def: "When the total bilirubin level in the serum is in the normal range." [] synonym: "Serum Bilirubin Total Normal" EXACT [] synonym: "Total Serum Bilirubin Level Normal" EXACT [] synonym: "Total Serum Bilirubin Normal" EXACT [] is_a: SCDO:1000812 ! Normal Metabolism/Homeostasis Phenotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000836 name: Normal Urine Albumin Concentration def: "When the concentration of urinary albumin falls in the normal range." [] synonym: "Normal Urinary Albumin Concentration" EXACT [] synonym: "Urinary Albumin Concentration Normal" EXACT [] synonym: "Urine Albumin Concentration Normal" EXACT [] is_a: SCDO:1000812 ! Normal Metabolism/Homeostasis Phenotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000837 name: Normal Urine Creatinine Level def: "When the concentration of urine creatinine falls in the normal range." [] synonym: "Creatinine Urine Normal" EXACT [] synonym: "Normal Urinary Creatinine" EXACT [] synonym: "Normal Urinary Creatinine Level" EXACT [] synonym: "Normal Urine Creatinine" EXACT [] synonym: "Urinary Creatinine Level Normal" EXACT [] synonym: "Urine Creatinine Level Normal" EXACT [] is_a: SCDO:1000812 ! Normal Metabolism/Homeostasis Phenotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not available" xsd:string [Term] id: SCDO:1000838 name: Normal Partial Pressure of Oxygen def: "When the pressure exerted by oxygen dissolved in the blood falls in the normal range." [] synonym: "Normal Oxygen Tension" EXACT [] synonym: "Normal PaO2" EXACT [] synonym: "Normal Partial Pressure of Blood Oxygen" EXACT [] synonym: "Normal PO2" EXACT [] synonym: "PaO2 Normal" EXACT [] synonym: "Partial Pressure of Blood Oxygen Normal" EXACT [] synonym: "Partial Pressure of Oxygen Normal" EXACT [] synonym: "PO2 Normal" EXACT [] is_a: SCDO:1000812 ! Normal Metabolism/Homeostasis Phenotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000839 name: Normal Partial Pressure of Carbon Dioxide def: "When the pressure exerted by carbon dioxide dissolved in the blood falls in the normal range." [] synonym: "Normal Carbon Dioxide Tension" EXACT [] synonym: "Normal PaCO2" EXACT [] synonym: "Normal Partial Pressure of Blood Carbon Dioxide" EXACT [] synonym: "PaCO2 Normal" EXACT [] synonym: "Partial Pressure of Blood Carbon Dioxide Normal" EXACT [] synonym: "Partial Pressure of Carbon Dioxide Normal" EXACT [] is_a: SCDO:1000812 ! Normal Metabolism/Homeostasis Phenotype property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000840 name: Decreased Partial Pressure of Carbon Dioxide def: "An abnormal reduction in the pressure exerted by carbon dioxide dissolved in the blood." [] synonym: "Decreased PaCO2" EXACT [] synonym: "Decreased Partial Pressure of Blood Carbon Dioxide" EXACT [] synonym: "Decreased PCO2" EXACT [] synonym: "PaCO2 Decreased" EXACT [] synonym: "Partial Pressure of Blood Carbon Dioxide Decreased" EXACT [] synonym: "PCO2 Decreased" EXACT [] is_a: MP:0002329 ! Abnormal Blood Gas Level property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000841 name: Increased Partial Pressure of Carbon Dioxide def: "An abnormal increase in the pressure exerted by carbon dioxide dissolved in the blood." [] synonym: "Elevated Partial Pressure of Carbon Dioxide" EXACT [] synonym: "Increased PaCO2" EXACT [] synonym: "Increased Partial Pressure of Blood Carbon Dioxide" EXACT [] synonym: "Increased PCO2" EXACT [] synonym: "PaCO2 Increased" EXACT [] synonym: "Partial Pressure of Carbon Dioxide Increased" EXACT [] synonym: "PCO2 Increased" EXACT [] synonym: "Raised Partial Pressure of Carbon Dioxide" EXACT [] is_a: MP:0002329 ! Abnormal Blood Gas Level property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000842 name: Hypocapnia def: "Clinical manifestation consisting of a deficiency of carbon dioxide in arterial blood." [] synonym: "Hypocarbia" EXACT [] xref: MESH:D016857 is_a: MP:0002329 ! Abnormal Blood Gas Level property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D016857 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000842 xsd:string [Term] id: SCDO:1000843 name: Hypercapnia def: "A clinical manifestation of abnormal increase in the amount of carbon dioxide in arterial blood." [] synonym: "Hypercarbia" EXACT [] xref: MESH:D006935 is_a: MP:0002329 ! Abnormal Blood Gas Level property_value: SCDO:0000340 http://purl.bioontology.org/ontology/MESH/D006935 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000843 xsd:string [Term] id: SCDO:1000844 name: Hemoglobin S Present def: "When the abnormal hemoglobin, hemoglobin S (HbS), has been detected in a blood sample." [] synonym: "Haemoglobin S in Blood" EXACT [] synonym: "Haemoglobin S Present" EXACT [] synonym: "HbS in Blood" EXACT [] synonym: "HbS Present" EXACT [] synonym: "Hemoglobin S in Blood" EXACT [] is_a: HP:0020061 ! Abnormal Hemoglobin Concentration property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000847 name: SickleInAfrica CDE - Type of Visit Question def: "The Sickle in Africa core data element that records the type of visit undertaken by a patient." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000496 ! is question type Multiple Choice Single Selection Question relationship: SCDO:1000526 EUPATH:0000050 ! has answer option Routine Clinical Visit relationship: SCDO:1000526 SCDO:1000849 ! has answer option Acute Clinical Visit relationship: SCDO:1000526 SCDO:1000900 ! has answer option First Visit relationship: SCDO:1000526 SCDO:1000901 ! has answer option Follow-Up Visit relationship: SCDO:1000528 NCIT:C103165 ! collects Subject Visit Type property_value: SCDO:1000517 "1, Routine\n2, Acute\n3, Review\n4, First visit" xsd:string property_value: SCDO:1000518 "Type of visit" xsd:string property_value: SCDO:1000519 "visit_type" xsd:string property_value: SCDO:1000735 "Demographics" xsd:string property_value: SCDO:1000739 "2" xsd:integer property_value: SCDO:1000749 "dropdown" xsd:string [Term] id: SCDO:1000849 name: Acute Clinical Visit def: "A clinical visit occuring because of an acute (severe with sudden onset) health condition." [] is_a: NCIT:C103165 ! Subject Visit Type property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Few but definitions not specific enough" xsd:string [Term] id: SCDO:1000850 name: SickleInAfrica CDE - Medical Record Number Question def: "The Sickle in Africa core data element that records the patient's medical record number." [] synonym: "Medical record number" EXACT [] synonym: "MRN" EXACT [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000502 ! is question type Open-Ended Question - Free Text relationship: SCDO:1000528 NCIT:C81262 ! collects Medical Record Number property_value: SCDO:1000518 "Medical record number (MRN)" xsd:string property_value: SCDO:1000519 "medical_record_number" xsd:string property_value: SCDO:1000735 "Demographics" xsd:string property_value: SCDO:1000739 "4" xsd:integer property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000854 name: SickleInAfrica CDE - Hospital Name Question def: "The Sickle in Africa core data element that records the name of the hospital that a patient visited." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000502 ! is question type Open-Ended Question - Free Text relationship: SCDO:1000528 SCDO:1000855 ! collects Hospital Name property_value: SCDO:1000518 "Hospital name" xsd:string property_value: SCDO:1000519 "hospital_name" xsd:string property_value: SCDO:1000735 "Demographics" xsd:string property_value: SCDO:1000739 "5" xsd:integer property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000855 name: Hospital Name def: "The name of the hospital visited by a patient." [] is_a: EUPATH:0000310 ! Information on Observation Details property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000856 name: SickleInAfrica CDE - First Name Question def: "The Sickle in Africa core data element that records a respondent's first name." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000502 ! is question type Open-Ended Question - Free Text relationship: SCDO:1000528 SCDO:1000858 ! collects First Name property_value: SCDO:1000518 "First name" xsd:string property_value: SCDO:1000519 "first_name" xsd:string property_value: SCDO:1000735 "Demographics" xsd:string property_value: SCDO:1000739 "6" xsd:integer property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000857 name: SickleInAfrica CDE - Middle Name Question def: "The Sickle in Africa core data element that records a respondent's middle name." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000502 ! is question type Open-Ended Question - Free Text relationship: SCDO:1000528 SCDO:1000860 ! collects Middle Name property_value: SCDO:1000518 "Middle name" xsd:string property_value: SCDO:1000519 "middle_name" xsd:string property_value: SCDO:1000735 "Demographics" xsd:string property_value: SCDO:1000739 "7" xsd:integer property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000858 name: First Name def: "A first name is a name that denotes a specific individual between members of a group of individuals, whose members usually share the same surname." [] synonym: "Forename" EXACT [] synonym: "Given Name" EXACT [] xref: sio:FirstName is_a: NCIT:C25191 ! Person Name property_value: SCDO:0000340 http://semanticscience.org/resource/FirstName property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000858 xsd:string [Term] id: SCDO:1000860 name: Middle Name def: "A middle name is a name assigned to an individual that is not the first or last name." [] xref: sio:MiddleName is_a: NCIT:C25191 ! Person Name property_value: SCDO:0000340 http://semanticscience.org/resource/MiddleName property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000860 xsd:string [Term] id: SCDO:1000861 name: Last Name def: "A last name (surname) is a name added to a given name and is part of a personal name and is often the family name." [] xref: sio:LastName is_a: NCIT:C25191 ! Person Name property_value: SCDO:0000340 http://semanticscience.org/resource/LastName property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000861 xsd:string [Term] id: SCDO:1000862 name: SickleInAfrica CDE - Last Name Question def: "The Sickle in Africa core data element that records a respondent's last name." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000502 ! is question type Open-Ended Question - Free Text relationship: SCDO:1000528 SCDO:1000861 ! collects Last Name property_value: SCDO:1000518 "Last name" xsd:string property_value: SCDO:1000519 "last_name" xsd:string property_value: SCDO:1000735 "Demographics" xsd:string property_value: SCDO:1000739 "8" xsd:integer property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000863 name: SickleInAfrica CDE - Height Question def: "The Sickle in Africa core data element that records a respondent's height." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 SCDO:0000149 ! collects Body Height relationship: SCDO:1000771 UO:0000015 ! has answer standard unit Centimeter property_value: SCDO:1000518 "Height/Length" xsd:string property_value: SCDO:1000519 "height_length" xsd:string property_value: SCDO:1000735 "Demographics" xsd:string property_value: SCDO:1000737 "cm" xsd:string property_value: SCDO:1000739 "12" xsd:integer property_value: SCDO:1000741 "Number" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000866 name: SickleInAfrica CDE - Weight Question def: "The Sickle in Africa core data element that records a respondent's measured weight." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 SCDO:0000727 ! collects Measured Weight relationship: SCDO:1000771 UO:0000009 ! has answer standard unit Kilogram property_value: SCDO:1000518 "Weight" xsd:string property_value: SCDO:1000519 "weight" xsd:string property_value: SCDO:1000735 "Demographics" xsd:string property_value: SCDO:1000737 "kg" xsd:string property_value: SCDO:1000739 "13" xsd:integer property_value: SCDO:1000741 "Number" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000868 name: SickleInAfrica CDE - Ethnic Group Question def: "The Sickle in Africa core data element that records the ethnic group to which a respondent belongs." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000502 ! is question type Open-Ended Question - Free Text relationship: SCDO:1000528 NCIT:C16564 ! collects Ethnic Group property_value: SCDO:1000518 "Ethnic Group" xsd:string property_value: SCDO:1000519 "tribe" xsd:string property_value: SCDO:1000735 "Demographics" xsd:string property_value: SCDO:1000739 "16" xsd:integer property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000869 name: SickleInAfrica CDE - Religion Question def: "The Sickle in Africa core data element that records the religion of a respondent." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000502 ! is question type Open-Ended Question - Free Text relationship: SCDO:1000528 SCDO:0000981 ! collects Religion property_value: SCDO:1000518 "Religion" xsd:string property_value: SCDO:1000519 "religion" xsd:string property_value: SCDO:1000735 "Demographics" xsd:string property_value: SCDO:1000739 "17" xsd:integer property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000870 name: SickleInAfrica CDE - Region Question def: "The Sickle in Africa core data element that records the region in which the respondent lives." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000502 ! is question type Open-Ended Question - Free Text relationship: SCDO:1000528 NCIT:C16632 ! collects Geographic Area property_value: SCDO:1000518 "Region" xsd:string property_value: SCDO:1000519 "region" xsd:string property_value: SCDO:1000735 "Demographics" xsd:string property_value: SCDO:1000739 "18" xsd:integer property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000871 name: Street Name def: "A street name is the token given to identify a particular street." [] xref: SIO:000766 is_a: NCIT:C19332 ! Personal Attribute property_value: SCDO:0000340 SIO:000766 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000871 xsd:string [Term] id: SCDO:1000872 name: SickleInAfrica CDE - Street Question def: "The Sickle in Africa core data element that records the name of the street in which the respondent lives." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000502 ! is question type Open-Ended Question - Free Text relationship: SCDO:1000528 SCDO:1000871 ! collects Street Name property_value: SCDO:1000518 "Street" xsd:string property_value: SCDO:1000519 "street" xsd:string property_value: SCDO:1000735 "Demographics" xsd:string property_value: SCDO:1000739 "19" xsd:integer property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000873 name: SickleInAfrica CDE - Nearest Landmark Question def: "The Sickle in Africa core data element that records the landmark that is nearest to where the participant lives." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000502 ! is question type Open-Ended Question - Free Text relationship: SCDO:1000528 SCDO:1000874 ! collects Nearest Geographical Landmark property_value: SCDO:1000518 "Nearest landmark" xsd:string property_value: SCDO:1000519 "nearest_landmark" xsd:string property_value: SCDO:1000735 "Demographics" xsd:string property_value: SCDO:1000739 "20" xsd:integer property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000874 name: Nearest Geographical Landmark def: "A recognizable natural or artificial geographic feature, used for navigation (often visible from long distances), that is nearest to where the participant lives." [] is_a: NCIT:C19332 ! Personal Attribute property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000875 name: Next of Kin Name def: "The name of a respondent's next of kin." [] is_a: NCIT:C25191 ! Person Name property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000876 name: SickleInAfrica CDE - Telephone 1 Question def: "The Sickle in Africa core data element that records the participant's primary telephone number." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000502 ! is question type Open-Ended Question - Free Text relationship: SCDO:1000528 SCDO:1000882 ! collects Telephone Number 1 property_value: SCDO:1000518 "Telephone 1" xsd:string property_value: SCDO:1000519 "telephone_1" xsd:string property_value: SCDO:1000735 "Demographics" xsd:string property_value: SCDO:1000739 "21" xsd:integer property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000877 name: SickleInAfrica CDE - Telephone 2 Question def: "The Sickle in Africa core data element that records the participant's secondary telephone number." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000502 ! is question type Open-Ended Question - Free Text relationship: SCDO:1000528 SCDO:1000883 ! collects Telephone Number 2 property_value: SCDO:1000518 "Telephone 2" xsd:string property_value: SCDO:1000519 "telephone_2" xsd:string property_value: SCDO:1000735 "Demographics" xsd:string property_value: SCDO:1000739 "22" xsd:integer property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000878 name: SickleInAfrica CDE - Next of Kin Name Question def: "The Sickle in Africa core data element that records the name of the participant's next of kin." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000502 ! is question type Open-Ended Question - Free Text relationship: SCDO:1000528 SCDO:1000875 ! collects Next of Kin Name property_value: SCDO:1000518 "Next of kin name" xsd:string property_value: SCDO:1000519 "next_of_kin_name" xsd:string property_value: SCDO:1000735 "Demographics" xsd:string property_value: SCDO:1000739 "23" xsd:integer property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000879 name: SickleInAfrica CDE - Next of Kin Number Question def: "The Sickle in Africa core data element that records the telephone number of the participant's next of kin." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000502 ! is question type Open-Ended Question - Free Text relationship: SCDO:1000528 SCDO:1000884 ! collects Next of Kin Telephone Number property_value: SCDO:1000518 "Next of kin telephone number" xsd:string property_value: SCDO:1000519 "next_of_kin_telephone_numb" xsd:string property_value: SCDO:1000735 "Demographics" xsd:string property_value: SCDO:1000739 "24" xsd:integer property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000880 name: SickleInAfrica CDE - Relationship to Participant Question def: "The Sickle in Africa core data element that records the participant's next of kin's relationship to the participant." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000502 ! is question type Open-Ended Question - Free Text relationship: SCDO:1000528 SCDO:1000885 ! collects Next of Kin Relationship to Participant property_value: SCDO:1000518 "Relationship to participant" xsd:string property_value: SCDO:1000519 "next_of_kin_relationship" xsd:string property_value: SCDO:1000735 "Demographics" xsd:string property_value: SCDO:1000739 "25" xsd:integer property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000882 name: Telephone Number 1 def: "A respondent's primary telephone number." [] is_a: NCIT:C40978 ! Telephone Number property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000883 name: Telephone Number 2 def: "A respondent's secondary telephone number." [] is_a: NCIT:C40978 ! Telephone Number property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000884 name: Next of Kin Telephone Number def: "The telephone number of a respondent's next of kin." [] is_a: NCIT:C40978 ! Telephone Number property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000885 name: Next of Kin Relationship to Participant def: "The relationship that the participant's next of kin has with the participant." [] synonym: "Next of Kin Relationship to Patient" EXACT [] is_a: NCIT:C19332 ! Personal Attribute property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000886 name: SickleInAfrica CDE - Blood Transfusion Question def: "The Sickle in Africa core data element that records whether the participant was given a blood transfusion." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000498 ! is question type Yes-No Question relationship: SCDO:1000526 OPMI:0000023 ! has answer option Yes relationship: SCDO:1000526 OPMI:0000024 ! has answer option No relationship: SCDO:1000528 SCDO:1000534 ! collects Blood Transfusion Since Last Visit property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000517 "1, Yes\n0, No" xsd:string property_value: SCDO:1000518 "Blood transfusion" xsd:string property_value: SCDO:1000519 "blood_transfusion" xsd:string property_value: SCDO:1000735 "Management Details" xsd:string property_value: SCDO:1000739 "7" xsd:integer property_value: SCDO:1000749 "yesno" xsd:string [Term] id: SCDO:1000887 name: SickleInAfrica CDE - Units Transfused Question def: "The Sickle in Africa core data element that records the number of units of blood that a participant was given during a blood transfusion." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 SCDO:1000888 ! collects Number of Units Transfused property_value: SCDO:1000518 "Units transfused" xsd:string property_value: SCDO:1000519 "units_transfused" xsd:string property_value: SCDO:1000735 "Management Details" xsd:string property_value: SCDO:1000739 "9" xsd:integer property_value: SCDO:1000741 "Number" xsd:string property_value: SCDO:1000742 "[blood_transfusion] = \"Yes\"" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000888 name: Number of Units Transfused def: "The number of units of blood that a patient received during a blood transfusion." [] is_a: SCDO:1000590 ! SCD Management Details property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000889 name: SickleInAfrica CDE - Difficulty in Breathing Question def: "The Sickle in Africa core data element that records whether a participant has difficulty in breathing." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000498 ! is question type Yes-No Question relationship: SCDO:1000526 OPMI:0000023 ! has answer option Yes relationship: SCDO:1000526 OPMI:0000024 ! has answer option No relationship: SCDO:1000528 HP:0002098 ! collects Respiratory Distress property_value: SCDO:1000517 "1, Yes\n0, No" xsd:string property_value: SCDO:1000518 "Difficulty in breathing" xsd:string property_value: SCDO:1000519 "difficulty_in_breathing" xsd:string property_value: SCDO:1000735 "Vital Signs" xsd:string property_value: SCDO:1000739 "4" xsd:integer property_value: SCDO:1000749 "yesno" xsd:string [Term] id: SCDO:1000890 name: SickleInAfrica CDE - Systolic Blood Pressure Question def: "The Sickle in Africa core data element that records a participant's systolic blood pressure." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 NCIT:C25298 ! collects Systolic Blood Pressure relationship: SCDO:1000771 UO:0000272 ! has answer standard unit mmHg property_value: SCDO:1000518 "Systolic blood pressure" xsd:string property_value: SCDO:1000519 "systolic_blood_press" xsd:string property_value: SCDO:1000735 "Vital Signs" xsd:string property_value: SCDO:1000737 "mmHg" xsd:string property_value: SCDO:1000739 "5" xsd:integer property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000891 name: SickleInAfrica CDE - Diastolic Blood Pressure Question def: "The Sickle in Africa core data element that records a participant's diastolic blood pressure." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 NCIT:C25299 ! collects Diastolic Blood Pressure relationship: SCDO:1000771 UO:0000272 ! has answer standard unit mmHg property_value: SCDO:1000518 "Diastolic blood pressure" xsd:string property_value: SCDO:1000519 "diastol_blood_press" xsd:string property_value: SCDO:1000735 "Vital Signs" xsd:string property_value: SCDO:1000737 "mmHg" xsd:string property_value: SCDO:1000739 "6" xsd:integer property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000894 name: SickleInAfrica CDE - Priapism Question def: "The Sickle in Africa core data element that records whether a participant has priapism." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000498 ! is question type Yes-No Question relationship: SCDO:1000526 OPMI:0000023 ! has answer option Yes relationship: SCDO:1000526 OPMI:0000024 ! has answer option No relationship: SCDO:1000528 SCDO:0000923 ! collects Priapism property_value: SCDO:1000517 "1, Yes\n0, No" xsd:string property_value: SCDO:1000518 "Priapism" xsd:string property_value: SCDO:1000519 "priapism" xsd:string property_value: SCDO:1000735 "Vital Signs" xsd:string property_value: SCDO:1000739 "7" xsd:integer property_value: SCDO:1000749 "yesno" xsd:string [Term] id: SCDO:1000895 name: SickleInAfrica CDE - Chest Pain Question def: "The Sickle in Africa core data element that records whether a participant has chest pain." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000498 ! is question type Yes-No Question relationship: SCDO:1000526 OPMI:0000023 ! has answer option Yes relationship: SCDO:1000526 OPMI:0000024 ! has answer option No relationship: SCDO:1000528 HP:0100749 ! collects Chest Pain property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000517 "1, Yes\n0, No" xsd:string property_value: SCDO:1000518 "Chest Pain" xsd:string property_value: SCDO:1000519 "chest_pain" xsd:string property_value: SCDO:1000735 "Vital Signs" xsd:string property_value: SCDO:1000739 "8" xsd:integer property_value: SCDO:1000749 "yesno" xsd:string [Term] id: SCDO:1000896 name: SickleInAfrica CDE - Anaemia Question def: "The Sickle in Africa core data element that records whether a participant has anaemia." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000498 ! is question type Yes-No Question relationship: SCDO:1000526 OPMI:0000023 ! has answer option Yes relationship: SCDO:1000526 OPMI:0000024 ! has answer option No relationship: SCDO:1000528 HP:0001903 ! collects Anemia property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000517 "1, Yes\n0, No" xsd:string property_value: SCDO:1000518 "Anaemia" xsd:string property_value: SCDO:1000519 "anaemia" xsd:string property_value: SCDO:1000735 "Vital Signs" xsd:string property_value: SCDO:1000739 "9" xsd:integer property_value: SCDO:1000749 "yesno" xsd:string [Term] id: SCDO:1000897 name: SickleInAfrica CDE - Jaundice Question def: "The Sickle in Africa core data element that records whether a participant has jaundice." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000498 ! is question type Yes-No Question relationship: SCDO:1000526 OPMI:0000023 ! has answer option Yes relationship: SCDO:1000526 OPMI:0000024 ! has answer option No relationship: SCDO:1000528 HP:0000952 ! collects Jaundice property_value: SCDO:1000517 "1, Yes\n0, No" xsd:string property_value: SCDO:1000518 "Jaundice" xsd:string property_value: SCDO:1000519 "jaundice" xsd:string property_value: SCDO:1000735 "Vital Signs" xsd:string property_value: SCDO:1000739 "10" xsd:integer property_value: SCDO:1000749 "yesno" xsd:string [Term] id: SCDO:1000898 name: SickleInAfrica CDE - Urea Question def: "The Sickle in Africa core data element that collects the concentration of urea in the respondent's blood." [] is_a: SCDO:1000509 ! SickleInAfrica Core Data Element relationship: SCDO:1000525 SCDO:1000501 ! is question type Open-Ended Question - Restricted relationship: SCDO:1000528 EUPATH:0021227 ! collects Blood Urea Concentration relationship: SCDO:1000771 NCIT:C64387 ! has answer standard unit Millimole per Liter property_value: SCDO:1000518 "Urea" xsd:string property_value: SCDO:1000519 "urea" xsd:string property_value: SCDO:1000735 "Kidney Function Assay (Phenx protocols PX141401, PX141501 and PX141601 unless stated otherwise)" xsd:string property_value: SCDO:1000737 "mmol/L" xsd:string property_value: SCDO:1000739 "2" xsd:integer property_value: SCDO:1000741 "Number" xsd:string property_value: SCDO:1000749 "text" xsd:string [Term] id: SCDO:1000900 name: First Visit def: "A clinical visit that is the patient's first clinical visit." [] is_a: NCIT:C103165 ! Subject Visit Type property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Term] id: SCDO:1000901 name: Follow-Up Visit def: "A clinical visit that is a follow-up for a previous visit." [] synonym: "Review Visit" EXACT [] is_a: NCIT:C103165 ! Subject Visit Type property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "Not relevant to context of sickle cell" xsd:string [Term] id: STATO:0000091 name: Genome Wide Association Study def: "Genome wide association study is a kind of study whose objective is to detect association between genetic markers (SNP or otherwise) accross the genome and a trait which may be a disease or another phenotype (e.g. trait of agronomic relevance in animal or plant studies). Genome wide association study compare the allele frequencies in 2 populations, one free of the trait used as control, the other one showing the trait use as 'case'. GWAS studies implement case-control design." [] synonym: "GWAS" EXACT [] xref: STATO:0000091 is_a: SCDO:0000437 ! Epidemiologic Studies property_value: SCDO:0000340 http://purl.obolibrary.org/obo/STATO_0000091 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000450 xsd:string [Term] id: SYMP:0000412 name: Anxiety def: "A neurological and physiological symptom characterized by a painful or apprehensive uneasiness of mind usually over an impending or anticipated ill." [] comment: Physical symptoms include increased blood pressure (rapid heartbeat), trembling or dizziness. synonym: "Anxiety Symptoms" EXACT [] synonym: "Panic" EXACT [] synonym: "Worry" EXACT [] xref: SYMP:0000412 is_a: HP:0000708 ! Behavioural Abnormality is_a: SCDO:0000746 ! Mental Health is_a: SCDO:0000954 ! Quality of Life Related SCD Symptoms and Complications relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: http://purl.org/dc/elements/1.1/source http://www.apa.org/topics/anxiety/ xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/SYMP_0000412 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000068 xsd:string [Term] id: SYMP:0019161 name: Muscle Pain def: "Muscle pain is a pain characterized by pain in one or more muscles." [] synonym: "Myalgia" EXACT [] xref: SYMP:0019161 is_a: SCDO:0000851 ! Pain relationship: SCDO:0000664 SCDO:0000050 ! treated with Analgesic relationship: SCDO:0000664 SCDO:0000057 ! treated with Anti-Inflammatory Agent relationship: SCDO:0000664 SCDO:0000262 ! treated with Cognitive Therapy relationship: SCDO:0000664 SCDO:1000020 ! treated with Treatment of Precipitating Factors relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease property_value: SCDO:0000303 "Provide source for additional info" xsd:string property_value: SCDO:0000340 http://purl.obolibrary.org/obo/SYMP_0019161 xsd:string property_value: SCDO:0000661 "Over-stretching of one muscle or a group of muscles, trauma, infections ( influenza, Lyme, Ebola, Dengue fever, Chicungunya fever, Babesiosis, Malaria, Toxoplasmosis, Hemorrhage fever, polio, Rocky Mountain spotted fever, Trichinosis), vaccines, muscle hematoma, autoimmune disorders ( lupus, polymyalgia, polymyositis, nutricional deficiencies, chronic fatigue syndrome, acute rejection after heart transplant surgery, rhabdomyolysis, severe potassium deficiency, fibromialgia, muscle abscess , reaction to drugs ( statins, fibrates, ACE inhibitors, cocaine), repetitive strain injury,withdrawal syndrome of certain drugs ( corticosteroids, opioids, barbiturates, benzodiazepines, caffeine, alcohol)." xsd:string property_value: SCDO:0000662 "Pain of a muscle or a group of muscles." xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000779 xsd:string [Term] id: UO:0000000 name: Unit of Measurement def: "A standardized quantity of a physical quality." [] synonym: "Unit" EXACT [] synonym: "Unit of Measure" EXACT [] synonym: "Units" EXACT [] xref: UO:0000000 is_a: SCDO:1000472 ! Data Standards property_value: SCDO:0000340 UO:0000000 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000478 xsd:string [Term] id: UO:0000001 name: Length Unit def: "A unit which is a standard measure of the distance between two points." [] xref: UO:0000001 is_a: UO:0000000 ! Unit of Measurement property_value: SCDO:0000340 UO:0000001 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000864 xsd:string [Term] id: UO:0000002 name: Mass Unit def: "A unit which is a standard measure of the amount of matter/energy of a physical object." [] xref: UO:0000002 is_a: UO:0000000 ! Unit of Measurement property_value: SCDO:0000340 UO:0000002 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000628 xsd:string [Term] id: UO:0000005 name: Temperature Unit def: "A unit which is a standard measure of the average kinetic energy of the particles in a sample of matter." [] xref: UO:0000005 is_a: UO:0000000 ! Unit of Measurement property_value: SCDO:0000340 UO:0000005 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000712 xsd:string [Term] id: UO:0000009 name: Kilogram def: "A mass unit which is equal to the mass of the International Prototype Kilogram kept by the BIPM at Svres, France." [] xref: UO:0000009 is_a: UO:0000002 ! Mass Unit property_value: SCDO:0000340 UO:0000009 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000867 xsd:string [Term] id: UO:0000015 name: Centimeter def: "A length unit which is equal to one hundredth of a meter or 10^[-2] m." [] xref: UO:0000015 is_a: UO:0000001 ! Length Unit property_value: SCDO:0000340 UO:0000015 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000865 xsd:string [Term] id: UO:0000025 name: pg def: "A mass unit which is equal to 10^[-12] g." [] synonym: "picogram" EXACT [] xref: UO:0000025 is_a: UO:0000002 ! Mass Unit property_value: SCDO:0000340 UO:0000025 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000629 xsd:string [Term] id: UO:0000051 name: Concentration Unit def: "A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." [] xref: UO:0000051 is_a: UO:0000000 ! Unit of Measurement property_value: SCDO:0000340 UO:0000051 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000491 xsd:string [Term] id: UO:0000095 name: Volume Unit def: "A unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas." [] xref: UO:0000095 is_a: UO:0000000 ! Unit of Measurement property_value: SCDO:0000340 UO:0000095 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000622 xsd:string [Term] id: UO:0000104 name: fL def: "A volume unit which is equal to 10^[-15] L." [] synonym: "cubic micrometre" EXACT [] synonym: "femtoliter" EXACT [] synonym: "femtolitre" EXACT [] synonym: "μm^3" EXACT [] xref: UO:0000104 is_a: UO:0000095 ! Volume Unit property_value: SCDO:0000340 UO:0000104 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000623 xsd:string [Term] id: UO:0000109 name: Pressure Unit def: "A unit which is a standard measure of the force applied to a given area." [] xref: UO:0000109 is_a: UO:0000000 ! Unit of Measurement property_value: SCDO:0000340 UO:0000109 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000720 xsd:string [Term] id: UO:0000180 name: Mass Per Unit Volume def: "A concentration unit which is a standard measure of the mass of a substance in a given volume (density)." [] comment: Definition from BioAssay Ontology synonym: "Unit of Density" EXACT [] xref: UO:0000180 is_a: UO:0000051 ! Concentration Unit property_value: SCDO:0000340 UO:0000180 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000506 xsd:string [Term] id: UO:0000186 name: Dimensionless Unit def: "A unit which is a standard measure of physical quantity consisting of only a numerical number without any units." [] xref: UO:0000186 is_a: UO:0000000 ! Unit of Measurement property_value: SCDO:0000340 UO:0000186 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000642 xsd:string [Term] id: UO:0000187 name: Percent def: "A dimensionless ratio unit which denotes numbers as fractions of 100." [] synonym: "%" EXACT [] xref: UO:0000187 is_a: UO:0000190 ! Ratio property_value: SCDO:0000340 UO:0000187 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000644 xsd:string [Term] id: UO:0000190 name: Ratio def: "A dimensionless unit which denotes an amount or magnitude of one quantity relative to another." [] xref: UO:0000190 is_a: UO:0000186 ! Dimensionless Unit property_value: SCDO:0000340 UO:0000190 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000643 xsd:string [Term] id: UO:0000200 name: Cell Concentration Unit def: "A concentration unit which denotes the average cell number in a given volume." [] xref: UO:0000200 is_a: UO:0000051 ! Concentration Unit property_value: SCDO:0000340 UO:0000200 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000503 xsd:string [Term] id: UO:0000272 name: mmHg def: "A unit of pressure equal to the amount of fluid pressure one millimeter deep in mercury at zero degrees centigrade on Earth." [] synonym: "millimetres of mercury" EXACT [] xref: UO:0000272 is_a: UO:0000109 ! Pressure Unit property_value: SCDO:0000340 UO:0000272 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000721 xsd:string [Term] id: UO:0000280 name: Rate Unit def: "A unit which represents a standard measurement occurrence of a process per unit time." [] xref: UO:0000280 is_a: UO:0000000 ! Unit of Measurement property_value: SCDO:0000340 UO:0000280 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000715 xsd:string [Term] id: UO:0000316 name: cells per microliter def: "A unit of cell concentration which is equal to one cell in a volume of 1 microliter." [] synonym: "cells per microliter" EXACT [] synonym: "cells/µL" EXACT [] xref: UO:0000316 is_a: UO:0000200 ! Cell Concentration Unit property_value: SCDO:0000340 UO:0000316 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000507 xsd:string [Term] id: VO:0000001 name: Vaccine def: "A vaccine is a processed material with the function that when administered, it prevents or ameliorates a disorder in a target organism by inducing or modifying adaptive immune responses specific to the antigens in the vaccine." [] xref: VO:0000001 is_a: SCDO:0000930 ! Infection Prophylaxis relationship: SCDO:1110663 SCDO:1000144 ! in guideline Recommendations for the Management of Sickle Cell Disease in South Africa relationship: SCDO:1110663 SCDO:1000145 ! in guideline National Guideline for the Control and Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000146 ! in guideline Management of Sickle Cell Disease - The United Republic of Tanzania relationship: SCDO:1110663 SCDO:1000147 ! in guideline A Parental Guide to Managing Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000148 ! in guideline Standards for Clinical Care of Adults with Sickle Cell Disease in the UK relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000151 ! in guideline Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care relationship: SCDO:1110663 SCDO:1000152 ! in guideline Evidence-Based Management of Sickle Cell Disease relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://purl.obolibrary.org/obo/VO_0000001 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001221 xsd:string [Term] id: VO:0000642 name: Influenza Virus Vaccine def: "A viral vaccine that protects against infection with influenza virus." [] xref: VO:0000642 is_a: VO:0000001 ! Vaccine relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada property_value: SCDO:0000340 http://purl.obolibrary.org/obo/VO_0000642 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0000642 xsd:string [Term] id: VO:0000675 name: Streptococcus Pneumoniae Vaccine def: "A Streptococcal vaccine that is used against S. pneumoniae infection, which causes pneumococcal diseases." [] synonym: "Pneumococcal Vaccine" EXACT [] xref: VO:0000675 is_a: VO:0000001 ! Vaccine relationship: SCDO:1110663 SCDO:1000149 ! in guideline Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit relationship: SCDO:1110663 SCDO:1000150 ! in guideline Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada relationship: SCDO:1110663 SCDO:1000154 ! in guideline ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children property_value: SCDO:0000340 http://purl.obolibrary.org/obo/VO_0000675 xsd:string property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:0001109 xsd:string [Term] id: VT:0000202 name: Alkaline Phosphatase Level def: "The amount of alkaline phosphatase present in a specified volume of blood." [] def: "The proportion, quantity, or volume in whole blood, serum, or plasma of this enzyme, which hydrolyzes orthophosphoric monoesters." [] synonym: "AP Level" EXACT [] synonym: "Blood Alkaline Phosphatase Amount" EXACT [] synonym: "Circulating Alkaline Phosphatase Level" EXACT [] synonym: "Circulating ALP Level" EXACT [] xref: VT:0000202 is_a: CMO:0000023 ! Blood Chemistry Measurement relationship: SCDO:1000190 SCDO:1000663 ! obtained via diagnostic tool Alkaline Phosphatase Blood Test relationship: SCDO:1000772 HP:0003155 ! has possible finding Elevated Serum Alkaline Phosphatase relationship: SCDO:1000772 HP:0003282 ! has possible finding Decreased Serum Alkaline Phosphatase relationship: SCDO:1000772 SCDO:1000832 ! has possible finding Normal Serum Alkaline Phosphatase property_value: SCDO:0000340 VT:0000202 property_value: SCDO:1000288 "Sufficient" xsd:string property_value: SCDO:1000910 SCDO:1000499 xsd:string [Typedef] id: RO:0002200 name: has phenotype def: "A relationship that holds between a biological entity and a phenotype. Here a phenotype is construed broadly as any kind of quality of an organism part, a collection of these qualities, or a change in quality or qualities (e.g. abnormally increased temperature). The subject of this relationship can be an organism (where the organism has the phenotype, i.e. the qualities inhere in parts of this organism), a genomic entity such as a gene or genotype (if modifications of the gene or the genotype causes the phenotype), or a condition such as a disease (such that if the condition inheres in an organism, then the organism has the phenotype)." [] xref: RO:0002200 property_value: SCDO:0000340 RO:0002200 property_value: SCDO:0000363 "no" xsd:string property_value: SCDO:0000929 "metadata complete - requires restrictions and relationships" xsd:string [Typedef] id: RO:0002201 name: phenotype of def: "Inverse of \"has phenotype\" object property." [] property_value: SCDO:0000303 "If required later, specify as inverse of \"has phenotype\" in Protege." xsd:string property_value: SCDO:0000340 RO:0002201 property_value: SCDO:0000363 "no" xsd:string property_value: SCDO:0000929 "metadata complete - requires restrictions and relationships" xsd:string [Typedef] id: RO:0002452 name: has symptom def: "A relation that holds between a disease or an organism and a phenotype that is a symptom (subjective evidence of disease perceived by the patient)." [] xref: RO:0002452 property_value: SCDO:0000303 "Description adapted from RO. Suggest this description be updated in RO." xsd:string property_value: SCDO:0000340 RO:0002452 is_a: RO:0002200 ! has phenotype [Typedef] id: RO:0003302 name: causes or contributes to condition def: "A relationship between an entity (e.g. a genotype, genetic variation, chemical, or environmental exposure) and a condition (a phenotype or disease), where the entity has some causal or contributing role that influences the condition." [] xref: RO:0003302 property_value: SCDO:0000340 RO:0003302 is_a: SCDO:1000183 ! causes or contributes to [Typedef] id: RO:0003303 name: causes condition def: "A relationship between an entity (e.g. a genotype, genetic variation, chemical, or environmental exposure) and a condition (a phenotype or disease), where the entity has some causal role for the condition." [] synonym: "results_in" EXACT [] xref: RO:0003303 property_value: SCDO:0000340 RO:0003303 is_a: SCDO:1000183 ! causes or contributes to [Typedef] id: RO:0003306 name: contributes to frequency of condition def: "A relationship between an entity (e.g. a genotype, genetic variation, chemical, or environmental exposure) and a condition (a phenotype or disease), where the entity influences the frequency of the condition in a population." [] xref: RO:0003306 property_value: SCDO:0000340 RO:0003306 is_a: SCDO:1000015 ! modifies [Typedef] id: RO:0003307 name: ameliorates condition def: "A relationship between an entity (e.g. a genotype, genetic variation, chemical, or environmental exposure) and a condition (a phenotype or disease), where the presence of the entity reduces or eliminates some or all aspects of the condition." [] xref: RO:0003307 property_value: SCDO:0000340 RO:0003307 is_a: SCDO:1000015 ! modifies [Typedef] id: RO:0003309 name: exacerbates condition def: "A relationship between an entity (e.g. a chemical, environmental exposure, or some form of genetic variation) and a condition (a phenotype or disease), where the presence of the entity worsens some or all aspects of the condition." [] xref: RO:0003309 property_value: SCDO:0000340 RO:0003309 is_a: SCDO:1000015 ! modifies [Typedef] id: RO:0003310 name: condition ameliorated by def: "A relationship between a condition (a phenotype or disease) and an entity (e.g. a chemical, environmental exposure, or some form of genetic variation) where some or all aspects of the condition are reduced or eliminated by the presence of the entity." [] xref: RO:0003310 property_value: SCDO:0000340 RO:0003310 is_a: SCDO:1000005 ! modified by [Typedef] id: RO:0003311 name: condition exacerbated by def: "A relationship between a condition (a phenotype or disease) and an entity (e.g. a chemical, environmental exposure, or some form of genetic variation) where some or all aspects of the condition are worsened by the presence of the entity." [] xref: RO:0003311 property_value: SCDO:0000340 RO:0003311 is_a: SCDO:1000005 ! modified by [Typedef] id: SCDO:0000031 name: age of onset modified by def: "A relationship between a phenotype and a disease modifier, where the disease modifier modifies the age of onset of the phenotype. Age of onset is defined as \"The age group in which disease manifestations appear.\" (HPO)" [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string is_a: SCDO:1000005 ! modified by [Typedef] id: SCDO:0000469 name: has clinical code def: "A relationship between a condition (phenotype or disease) and a relevant ICD-10-CM Diagnosis Code." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string [Typedef] id: SCDO:0000474 name: has output measurement def: "A relation between a device (diagnostic device) and the recording of the output (diagnostic measurement) of the device." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string [Typedef] id: SCDO:0000475 name: uses medical device def: "A relation between a process (e.g. a form of therapy) and a medical device, where the medical device is used in the process." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string [Typedef] id: SCDO:0000660 name: caused or contributed to by def: "A relationship between a condition (a phenotype or disease) and an entity (a genotype or genetic variation) where the entity has a causal role for the condition." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string [Typedef] id: SCDO:0000663 name: diagnosed using tool def: "A relation between a phenotype that is a diagnosis and a diagnostic tool used in making the diagnosis." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string [Typedef] id: SCDO:0000664 name: treated with def: "A relation between a condition (phenotype or disease) and a type of treatment or a specific treatment, where the condition can be treated with the treatment." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "If required later, specify as inverse of \"treats\"." xsd:string [Typedef] id: SCDO:0000772 name: mortality modified by def: "A relationship between a phenotype and a disease modifier, where the disease modifier modifies the mortality (due to the phenotype) of the SCD sufferer." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string is_a: SCDO:1000005 ! modified by [Typedef] id: SCDO:0001139 name: temporal pattern modified by def: "A relationship between a phenotype and a disease modifier, where the disease modifier modifies the temporal pattern of the phenotype. Temporal pattern is defined as \"The speed at which disease manifestations appear and develop.\" (HPO)" [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string is_a: SCDO:1000005 ! modified by [Typedef] id: SCDO:0001297 name: has essential measure def: "A measure that is critical to the collection of the measure at hand or is necessary for the interpretation of results for the measure at hand. Without such information, the data collected would be incomplete or misleading." [] comment: Essential measures have been attributed according to information in PhenX. property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string [Typedef] id: SCDO:0001364 name: has mode of inheritance def: "A relation between a particular genotype or disorder and the pattern in which the particular genotype or disorder is passed from one generation to the next." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string [Typedef] id: SCDO:1000005 name: modified by def: "A relationship between a condition (phenotype or disease), entity (aspect of quality of life) or process (therapy) and a disease modifier, where the condition, entity or process is modified by the disease modifier in some way." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string [Typedef] id: SCDO:1000015 name: modifies def: "A relationship between a disease modifier and a condition (phenotype or disease), entity (aspect of quality of life) or process (therapy), where the disease modifier modifies the condition, entity or process in some way." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string [Typedef] id: SCDO:1000018 name: treats def: "A relation between a type of treatment or a specific treatment and a condition (phenotype or disease), where the type of treatment or specific treatment treat the condition." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "If required later, specify as inverse of \"treated with\"." xsd:string [Typedef] id: SCDO:1000171 name: has diagnostic device def: "A relation between a Diagnostic Tool (test, method, assay, etc.) or the Diagnostic Measurement obtained from such a tool and a specific Diagnostic Device, where the Diagnostic Device is used in the application of the Diagnostic Tool or to obtain the Diagnostic Measurement." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string [Typedef] id: SCDO:1000172 name: has causal genotype def: "A relation between a condition (hemoglobinopathy) and the genotype that causes the condition." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string is_a: SCDO:0000660 ! caused or contributed to by [Typedef] id: SCDO:1000175 name: is ICD-10-CM code type def: "An object property that specifies the type of an ICD-10-CM code, whether Billable or Non-Billable." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string domain: SCDO:0000607 ! ICD-10-CM Diagnosis Codes range: SCDO:1000100 ! ICD-10-CM Code Type [Typedef] id: SCDO:1000180 name: manifestation of def: "A relationship that holds between a phenotype (i.e. manifestation) and a condition such as a disease (hemoglobinopathy), wherein the phenotype is evidence of the condition." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string is_a: RO:0002201 ! phenotype of [Typedef] id: SCDO:1000182 name: symptom of def: "A relation between a phenotype that is a symptom (subjective evidence of disease perceived by the patient) and a disease." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string is_a: RO:0002201 ! phenotype of [Typedef] id: SCDO:1000183 name: causes or contributes to def: "A relationship between 'a' and 'b', where 'a' has some causal role for 'b'." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string [Typedef] id: SCDO:1000184 name: contributes to genotype def: "A relationship between an entity (e.g. genetic variation such as mutation or specific allele) and a genotype, where the entity contributes to the genotype." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string is_a: SCDO:1000183 ! causes or contributes to [Typedef] id: SCDO:1000188 name: studied in def: "A relation between a condition (Hemoglobinopathy) and a form of research (type of study) that the condition was studied in." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string [Typedef] id: SCDO:1000189 name: associated via def: "A relation between a condition (disease or phenotype) and a type of linking association (e.g. age of onset association)." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string [Typedef] id: SCDO:1000190 name: obtained via diagnostic tool def: "A relationship between a diagnostic measurement and the diagnostic tool used to produce the measurement." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string [Typedef] id: SCDO:1000191 name: used by diagnostic tool def: "A relationship between a diagnostic device and the diagnostic tool by which the device is used." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string [Typedef] id: SCDO:1000192 name: uses diagnostic device def: "A relation between a diagnostic tool (test, method, assay, etc.) and a diagnostic device, where the diagnostic device is used in the application of the diagnostic tool." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string [Typedef] id: SCDO:1000193 name: output of diagnostic device def: "A relation between a diagnostic measurement and a diagnostic device, where the diagnostic measurement is the output of the diagnostic device." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string [Typedef] id: SCDO:1000194 name: measures def: "A relation between a diagnostic tool and the diagnostic measurement that it measures." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string [Typedef] id: SCDO:1000196 name: has contributing genetic variation def: "A relation between a genotype and a genetic variation (e.g. mutation or genetic recombination), where the genetic variation contributes to the genotype." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string is_a: SCDO:0000660 ! caused or contributed to by [Typedef] id: SCDO:1000199 name: induced by def: "A condition (phenotype or disease) or event (adverse event) induced by an entity (e.g. a drug) or activity (e.g. exercise)." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:0000303 "The \"developmentally induced by\" object property in RO has the alternative term \"induced by\"." xsd:string [Typedef] id: SCDO:1000202 name: caused by def: "A relationship between a condition (a phenotype or disease) and an entity (e.g. environment) or condition (phenotype or disease) which could be an existing condition or an event, where the entity or second condition has a causal role for the condition being described." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string is_a: SCDO:0000660 ! caused or contributed to by [Typedef] id: SCDO:1000203 name: has risk factor def: "A relation between a condition (disease or phenotype) and an aspect of an individual's life (personal attribute), behavior, an environmental exposure, or an inborn or inherited characteristic that increases the likelihood of the condition." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string [Typedef] id: SCDO:1000204 name: risk factor for def: "A relation between an aspect of an individual's life (personal attribute), behavior, an environmental exposure, or an inborn or inherited characteristic that increases the likelihood of a condition and the condition (disease or phenotype) that it increases the likelihood of." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string [Typedef] id: SCDO:1000210 name: has causal or contributing genetic variation def: "A relation between a condition (disease or phenotype) or an entity (molecular phenotype) and a genetic variation (e.g. mutation or genetic recombination), where the genetic variation has some causal or contributing role that influences the condition or entity." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string is_a: SCDO:0000660 ! caused or contributed to by [Typedef] id: SCDO:1000217 name: causes or contributes to molecular phenotype def: "A relation between an entity (genotype) and a molecular phenotype, where the entity has some causal or contributing role that influences the molecular phenotype." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string is_a: SCDO:1000183 ! causes or contributes to [Typedef] id: SCDO:1000218 name: has manifestation def: "A relationship that holds between a condition such as a disease (hemoglobinopathy) and a phenotype (i.e. manifestation), where the phenotype is evidence of the condition." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string is_a: RO:0002200 ! has phenotype [Typedef] id: SCDO:1000219 name: diagnosed by def: "A relation between a condition that is a diagnosis and a phenotype used in making the diagnosis." [] [Typedef] id: SCDO:1000220 name: diagnosed using measurement def: "A relation between an Abnormal Phenotype that is a diagnosis and a Diagnostic Measurement or Diagnostic Device Visual Output used in making the diagnosis." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string [Typedef] id: SCDO:1000222 name: causes molecular phenotype def: "A relation between a genotype and a molecular phenotype, where the genotype has a causal role for the molecular phenotype." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string is_a: SCDO:1000183 ! causes or contributes to [Typedef] id: SCDO:1000223 name: has causal molecular phenotype def: "A relation between a condition (disease such as a Hemoglobinopathy) and a molecular phenotype, where the molecular phenotype is evidence of the condition." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string is_a: SCDO:0000660 ! caused or contributed to by [Typedef] id: SCDO:1000525 name: is question type def: "A relationship between a Clinical or Research Assessment Data Element and a Clinical or Research Assessment Question Type." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string domain: SCDO:1000474 ! Clinical or Research Assessment Data Element range: SCDO:1000475 ! Clinical or Research Assessment Question Type [Typedef] id: SCDO:1000526 name: has answer option def: "A relationship between a multiple choice data element and an answer option or a group of answer options that are provided to the respondent by the data element." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string domain: SCDO:1000474 ! Clinical or Research Assessment Data Element [Typedef] id: SCDO:1000528 name: collects def: "A relationship between a data element and the type of information that is collected by that data element." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string domain: SCDO:1000474 ! Clinical or Research Assessment Data Element [Typedef] id: SCDO:1000771 name: has answer standard unit def: "A relationship between a data element and the unit of measurement used, as a standard, for the information that is collected by the data element." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string domain: SCDO:1000474 ! Clinical or Research Assessment Data Element range: UO:0000000 ! Unit of Measurement [Typedef] id: SCDO:1000772 name: has possible finding def: "A relationship between a Diagnostic Measurement and a Phenotype, where the Phenotype is a possible finding of the Diagnostic Measurement, depending on the value recorded for the Diagnostic Measurement." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string domain: SCDO:0000728 ! Diagnostic Measurement range: HP:0000118 ! Abnormal Phenotype [Typedef] id: SCDO:1000773 name: diagnosed using finding def: "A relationship between an Abnormal Phenotype that is a diagnosis of a condition and a Phenotype that is a finding from a Diagnostic Measurement, where the Phenotype that is a finding is used as evidence to diagnose patients with the Abnormal Phenotype that is a diagnosis." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string range: OGMS:0000023 ! Phenotype [Typedef] id: SCDO:1000782 name: has reference range standard unit def: "A relationship between a Diagnostic Measurement and the Unit of Measurement used for the values provided by the data properties that specify upper (ULN) or lower (LLN) limit of normal for the Diagnostic Measurement." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string property_value: SCDO:1000288 "None" xsd:string domain: SCDO:0000728 ! Diagnostic Measurement range: UO:0000000 ! Unit of Measurement [Typedef] id: SCDO:1000785 name: code requires phenotype def: "A relationship between a clinical code (such as ICD10 code) and a Phenotype, where the code can only be applied in instances where the phenotype is present." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string [Typedef] id: SCDO:1110663 name: in guideline def: "A relation between an entity (phenotypic, therapeutic or diagnostic concept) and a guideline or directive." [] property_value: http://purl.org/dc/elements/1.1/creator "SCDO (Jade Hotchkiss)" xsd:string [Typedef] id: associated_with name: associated with xref: so:associated_with property_value: SCDO:0000340 "associated_with"