Alan Ruttenberg Albert Goldfain Anand Kumar Barry Smith Bill Hogan Cornelius Rosse Daniel Merico Lindsay Cowell Richard Scheuermann Sivaram Arabandi Werner Ceusters 2009-08-07 The Ontology for General Medical Science (OGMS) is an ontology of entities involved in a clinical encounter. OGMS includes very general terms that are used across medical disciplines, including: 'disease', 'disorder', 'disease course', 'diagnosis', 'patient', and 'healthcare provider'. OGMS uses the Basic Formal Ontology (BFO) as an upper-level ontology. The scope of OGMS is restricted to humans, but many terms can be applied to a variety of organisms. OGMS provides a formal theory of disease that can be further elaborated by specific disease ontologies. This theory is implemented using OWL-DL and OBO Relation Ontology relations and is available in OWL and OBO formats. OGMS is based on the papers Toward an Ontological Treatment of Disease and Diagnosis and On Carcinomas and Other Pathological Entities. The ontology attempts to address some of the issues raised at the Workshop on Ontology of Diseases (Dallas, TX) and the Signs, Symptoms, and Findings Workshop(Milan, Italy). OGMS was formerly called the clinical phenotype ontology. Terms from OGMS hang from the Basic Formal Ontology. Ontology for General Medical Science url: http://creativecommons.org/licenses/by/4.0/ The Ontology for General Medical Science (OGMS) is based on the papers Toward an Ontological Treatment of Disease and Diagnosis and On Carcinomas and Other Pathological Entities. The ontology attempts to address some of the issues raised at the Workshop on Ontology of Diseases (Dallas, TX). OGMS was formerly called the clinical phenotype ontology. Terms from OGMS hang from the Basic Formal Ontology. The latest version of OGMS is always available at http://purl.obolibrary.org/obo/ogms.owl This is version 2020-07-06 aka 'v2020' The OGMS developer site is https://github.com/OGMS/ogms If you are interested in participating in the development of OGMS, please send email to baeverma 2020-07-06 http://purl.obolibrary.org/obo/ogms/2020-07-06/ogms.owl definition editor note definition editor definition source curator note An information content entity is an entity that is generically dependent on some artifact and stands in relation of aboutness to some entity An information content entity whose concretizations indicate to their bearer how to realize them in a process. directive information content entity An infection that is clinically abnormal. infectious disorder A processual entity that realizes a plan which is the concretization of a plan specification. planned process A representation that is either the output of a clinical history taking or a physical examination or an image finding, or some combination thereof. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2010-07-19T10:18:02Z clinical finding A series of statements representing health-relevant qualities of a patient and of a patient's family. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2010-07-19T10:18:59Z clinical history A representation of clinically significant bodily components, dispositions, and/or bodily processes of a human being that is inferred from relevant clinical findings. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2010-07-19T10:20:20Z clinical picture A representation of an image that supports an inference to an assertion about some quality of a patient. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T10:21:10Z image finding A representation of a quality of a specimen that is the output of a laboratory test and that can support an inference to an assertion about some quality of the patient. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T10:21:58Z laboratory finding A representation of a quality of a patient that is (1) recorded by a clinician because the quality is hypothesized to be of clinical significance and (2) refers to qualities obtaining in the patient prior to their becoming detectable in a clinical history taking or physical examination. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T10:22:44Z preclinical finding A process experienced by the patient, which can only be experienced by the patient, that is hypothesized to be clinically relevant. note: defined class http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2010-11-18T11:02:10Z Updated: 2020-07-06 symptom A quality of a patient that is (a) a deviation from clinical normality that exists in virtue of the realization of a disease and (b) is observable. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:12:33Z manifestation of a disease 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. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2010-07-19T11:13:49Z phenotype The class sign has been replaced by three seperate classes which reflect the different types of signs possible. DEPRECATED sign true A manifestation of a disease that is detectable in a clinical history taking or physical examination. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:15:43Z clinical manifestation of a disease A manifestation of a disease that exists prior to the time at which it would be detected in a clinical history taking or physical examination, if the patient were to present to a clinician. A realization of a disease that exists prior to its becoming detectable in a clinical history taking or physical examination. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:16:50Z preclinical manifestation of a disease A clinically abnormal phenotype. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:18:05Z clinical phenotype A clinically abnormal phenotype that is characteristic of a single disease. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:18:39Z disease phenotype A physical sign in which a non-zero value is standardly considered to be an indication that the organism is alive. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:19:17Z vital sign A disposition in an organism that constitutes an increased risk of the organism's subsequently developing the disease X. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:20:25Z predisposition to disease of type X A disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:21:20Z disease Albert Goldfain creation date: 2009-06-23T11:22:01Z homeostasis A predisposition to disease of type X whose physical basis is a constitutional abnormality in an organism's genome. This abnormality is the physical basis for the increased risk of acquiring the disease X. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:23:07Z genetic predisposition to disease of type X A disease whose physical basis is an acquired genetic disorder. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:24:05Z acquired genetic disease A disease whose physical basis is a constitutional genetic disorder. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:24:59Z constitutional genetic disease Homeostasis that is clinically abnormal for an organism of a given type and age in a given environment. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:26:44Z abnormal homeostasis Homeostasis of a type that is not clinically abnormal. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:27:28Z normal homeostasis A quality which is an spatial arrangement or distribution of a(n) independent continuant(s) across a Three Dimensional Region. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:36:24Z configuration A configuration which deviates in some way from a canonical configuration for a particular organism. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:36:58Z pathological physical configuration A material entity which is clinically abnormal and part of an extended organism. Disorders are the physical basis of disease. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:39:44Z disorder 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. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:40:27Z epigenetic disorder A disorder whose etiology involves an abnormality in the nucleotide sequence of an organism's genome. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:41:14Z genetic disorder A genetic disorder acquired by a single cell in an organism that leads to a population of cells within the organism bearing the disorder. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:43:09Z acquired genetic disorder A genetic disorder inherited during conception that is part of all cells in the organism. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:43:44Z constitutional genetic disorder A health care process in which a clinician elicits a description of previous sign and symptoms of disease from a patient or from a third party who is reporting on behalf of the patient. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:49:16Z clinical history taking A measurement assay that has as input a patient-derived specimen and as output a data item that is about a quality of the specimen. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:49:49Z clinical laboratory test A sequence of acts of observing and measuring qualities of a patient performed by a clinician; measurements may occur with and without elicitation. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2010-07-19T11:50:18Z physical examination A process in an organism that leads to a subsequent disorder. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:53:07Z etiological process Albert Goldfain creation date: 2009-06-23T11:53:49Z bodily process A bodily process that is clinically abnormal. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:54:29Z pathological bodily process The totality of all processes through which a given disease instance is realized. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:55:44Z disease course A disease course that (a) does not terminate in a return to normal homeostasis and (b) would, absent intervention, fall within abnormal homeostatic range. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:56:26Z chronic disease course A disease course that (a) does not terminate in a return to normal homeostasis and (b) would, absent intervention, involve an increasing deviation from homeostasis. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:57:09Z progressive disease course A disease course that terminates in a return to normal homeostasis. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:57:44Z transient disease course Albert Goldfain creation date: 2009-06-23T11:58:22Z _undefined primitive term Albert Goldfain creation date: 2009-06-23T11:59:24Z clinically abnormal Albert Goldfain creation date: 2009-06-23T12:00:09Z physical basis Albert Goldfain creation date: 2009-06-23T12:00:39Z realization The representation of a conclusion of a diagnostic process. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T12:42:23Z diagnosis A value for a quality reported in a lab report and asserted by the testing lab or the kit manufacturer to be normal based on a statistical treatment of values from a reference population. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-26T10:31:34Z normal value TODO: Define, relate to disorder, and place in the OGMS hierarchy. Albert Goldfain http://ontology.buffalo.edu/bio/ISMB/ISMB_Bio-ontologies.pdf creation date: 2009-07-13T02:14:59Z pathological formation An anatomical structure (FMA) is pathological whenever (1) it has come into being as a result of changes in some pre-existing canonical anatomical structure, (2) through processes other than the expression of the normal complement of genes of an organism of the given type, and (3) is predisposed to have health-related consequences for the organism in question manifested by symptoms and signs. Albert Goldfain http://ontology.buffalo.edu/bio/ISMB/ISMB_Bio-ontologies.pdf creation date: 2009-07-13T02:14:05Z pathological anatomical structure TODO: Define, relate to disorder, and place in the OGMS hierarchy. Albert Goldfain http://ontology.buffalo.edu/bio/ISMB/ISMB_Bio-ontologies.pdf creation date: 2009-07-13T02:15:17Z portion of pathological body substance A pathological bodily process in which a canonical anatomical structure becomes a pathological anatomical structure. Albert Goldfain http://ontology.buffalo.edu/bio/ISMB/ISMB_Bio-ontologies.pdf creation date: 2009-07-13T02:17:07Z pathological transformation A pathological bodily process in which matter is reorganized in such a way as to give rise to new pathological formations which take the place of entities existing earlier. Albert Goldfain http://ontology.buffalo.edu/bio/ISMB/ISMB_Bio-ontologies.pdf creation date: 2009-07-13T02:17:24Z pathological derivation TODO: Define. Albert Goldfain http://ontology.buffalo.edu/bio/ISMB/ISMB_Bio-ontologies.pdf creation date: 2009-07-13T02:17:47Z pathological invasion TODO: Define. Albert Goldfain http://code.google.com/p/ogms/issues/detail?id=26 creation date: 2009-11-24T04:51:11Z physical examination finding An aggregate of organisms of the same type. Albert Goldfain http://code.google.com/p/ogms/issues/detail?id=33 creation date: 2009-11-24T04:51:11Z organism population A bodily process in an organism S involving two integrated levels: (a) activation of the nociceptive system and associated emotion generating brain components of S, and (b) a simultaneous aversive sensory and emotional experience on the part of S, where (b) is phenomenologically similar to the sort of aversive experience involved in pain with concordant tissue damage. Albert Goldfain http://www.referent-tracking.com/RTU/sendfile/?file=painTokyo1_27_2011.pdf creation date: 2009-11-24T04:51:11Z pain A pattern of signs and symptoms that typically co-occur. Albert Goldfain http://code.google.com/p/ogms/issues/detail?id=32 creation date: 2009-11-24T04:51:11Z syndrome An object aggregate consisting of an organism and all material entities located within the organism, overlapping the organism, or occupying sites formed in part by the organism. Albert Goldfain http://code.google.com/p/ogms/issues/detail?id=3 creation date: 2010-01-25T04:51:11Z extended organism A communication from a patient about something they perceive as being abnormal about their body or life. Albert Goldfain http://code.google.com/p/ogms/issues/detail?id=12 creation date: 2010-01-25T04:51:11Z patient symptom report A structurally anomalous part of an organism acquired during fetal development and present at birth (but not necessarily hereditary) which is hypothesized to be harmful for the organism. Albert Goldfain http://code.google.com/p/ogms/issues/detail?id=28 creation date: 2010-03-31T04:51:11Z congenital malformation A planned process whose completion is hypothesized by a health care provider to eliminate, prevent, or alleviate the signs and symptoms of a disorder or pathological process Albert Goldfain http://code.google.com/p/ogms/issues/detail?id=35 creation date: 2010-03-31T04:51:11Z treatment A processual entity during which a patient participating in a disease course gradually returns to participating in a canonical life course. Albert Goldfain http://code.google.com/p/ogms/issues/detail?id=35 creation date: 2010-03-31T04:51:11Z convalescence A process which has as parts all the processes in which a given organism is participant. Albert Goldfain Richard Scheuermann Sagar Jain http://code.google.com/p/ogms/issues/detail?id=38 creation date: 2010-03-31T04:51:11Z EDIT: 10 NOV 2015 life course A hypothesis about some future part of a disease course. Albert Goldfain http://code.google.com/p/ogms/issues/detail?id=35 creation date: 2010-03-31T12:42:23Z prognosis A disease course with an acute onset Albert Goldfain http://code.google.com/p/ogms/wiki/Meeting_notes_20100513 creation date: 2010-07-19T11:57:44Z acute disease course A bodily process caused by some disorder that results in recruitment of leukocytes into a localized tissue site, typically causing localized pain and swelling. Albert Goldfain Richard Scheuermann Sagar Jain http://code.google.com/p/ogms/wiki/Meeting_notes_20100513 creation date: 2010-07-19T11:57:44Z Updated: 10 NOV 2015 inflammatory process A planned process with the objective to improve the health status of a patient that directly involves the treatment, diagnosis, or prevention of disease or injury of a patient Albert Goldfain Sagar Jain http://groups.google.com/group/ogms-discuss/browse_thread/thread/a2dbc2ed1dff99d6 creation date: 2011-02-21T09:57:44Z editor date: 2017-04-18 health care process A temporally-connected health care process that has as participants an organization or person realizing the health care provider role and a person realizing the patient role. The health care provider role and patient are realized during the health care encounter Albert Goldfain http://groups.google.com/group/ogms-discuss/browse_thread/thread/a2dbc2ed1dff99d6 creation date: 2011-02-21T09:57:44Z health care encounter TODO Albert Goldfain http://groups.google.com/group/ogms-discuss/browse_thread/thread/a2dbc2ed1dff99d6 creation date: 2011-02-21T09:57:44Z hospitalization TODO Albert Goldfain http://groups.google.com/group/ogms-discuss/browse_thread/thread/a2dbc2ed1dff99d6 creation date: 2011-02-21T09:57:44Z outpatient encounter TODO Albert Goldfain http://groups.google.com/group/ogms-discuss/browse_thread/thread/a2dbc2ed1dff99d6 creation date: 2011-02-21T09:57:44Z inpatient encounter A health care encounter in which care is provided for undifferentiated and unscheduled patients with illnesses or injuries requiring immediate medical attention. Albert Goldfain http://groups.google.com/group/ogms-discuss/browse_thread/thread/a2dbc2ed1dff99d6 creation date: 2011-02-21T09:57:44Z emergency department encounter A disorder that involves some structural damage that is immediately caused by a catastrophic external force. At the scale of organism (as opposed to the cellular scale or the population scale), an injury is typically the result of a catastrophic event. Consider the implications of making 'injury' a subtype of 'disorder'. Note: Adopted subtype of disorder, and injury can occur at the scale of organism down to cellular level. Albert Goldfain Sagar Jain http://groups.google.com/group/ogms-discuss/browse_thread/thread/ca0ad373f27774c5 OGMS call adoption- 16 SEPT 2015 https://docs.google.com/document/d/1iiV1-fTS7BUUSzDw3N_Afx42698YWf54-FOTY2NkAxo/edit creation date: 2011-09-20T09:57:44Z edited date: 30 SEPT 2015 injury A planned process whose completion is hypothesized by a health care provider to reduce the risk of developing a disorder or the signs and symptoms of a disorder. Whether or not 'prophylaxis' and 'treatment' classes are disjoint is an open question. Albert Goldfain http://groups.google.com/group/ogms-discuss/browse_thread/thread/e42bde79218ee34e creation date: 2011-09-20T09:57:44Z disease prophylaxis A health care process that involves the interpretation of a clinical picture from a given patient (input) and the assertion to the effect that the patient has a disease, disorder, or syndrome of a certain type, or none of these (output). Albert Goldfain http://groups.google.com/group/ogms-discuss/browse_thread/thread/2a7008f311fac766/e7de486c94dfd82e creation date: 2011-09-20T09:57:44Z diagnostic process A disease stage which is preceded by a remission and characterized by the return of a manifestation of a disease. A pathological bodily process which is part of a disease couse that occurs after an incomplete remission and that is similar to earlier parts of the disease course. Albert Goldfain Richard Scheuermann Sagar Jain http://code.google.com/p/ogms/issues/detail?id=73 10 NOV 2015 relapse A disease stage which is characterized by the lack of a manifestation of a disease A part of a disease course in which the extent or rate of change of the signs and symptoms of a disorder has decreased. Albert Goldfain Richard Scheuermann Sagar Jain http://code.google.com/p/ogms/issues/detail?id=73 10 NOV 2015 remission A planned process that has the objective to support the objective of a health care process without directly involving the treatment, diagnosis, or prevention of disease or injury of a patient. 2017-04-18 Sagar Jain ancillary health care process A health care process with the objective to produce information about the material entity that is the evaluant, by physically examining it or its proxies. creation: 16MAY2017 Sagar Jain health care process assay A health care process which results in physical changes in a specified input material creation: 16MAY2017 Sagar Jain health care process biomaterial transformation A health care process that produces output from input data creation: 16MAY2017 Sagar Jain health care process data transformation A treatment whose completion is hypothesized by a health care provider to prevent the signs and symptoms of a disorder or pathological process. Creation date: 2018-11-27 prophylactic treatment A treatment whose completion is hypothesized by a health care provider to eliminate a disorder or to alleviate the signs and symptoms of a disorder or pathological process. Creation data: 2018-11-27 therapeutic procedure A therapeutic procedure that uses synthetic or naturally-occurring chemicals creation date: 2018-11-27 chemotherapy procedure A therapeutic procedure that uses immune system derived entities. creation date: 2018-11-27 immunotherapy procedure A therapeutic procedure that uses physical conditioning creation date: 2018-11-27 physical therapy procedure A therapeutic procedure that uses radiation. creation date: 2018-11-27 radiation therapy procedure A disease stage characterized by the lack of symptoms associated with a given disease creation date: 2018-11-27 asymptomatic A disease stage that marks the beginning of a disease creation date 2018-11-27 onset A disease stage with a rapid unfolding of signs and symptoms creation date 2018-11-27 acute onset A remission which is characterized by a prolonged lack of all manifestations of a disease complete remission A remission which is characterized by a prolonged lack of some manifestations of a disease partial remission A quality in which complete clearance of the disorder is attained; however, physiological 'memory' may persist creation date: 2018-11-27 recovered from disease A data item that is about a patient and is the specified output of a health care process assay or diagnostic process creation date: 2018-11-27 clinical data item An abnormal material entity that is part of a patient and hypothesized to be clinically relevant. Example: an abnormal growth, an inflammatory infiltrate, swollen tissue, distension physical sign The process in which an allergic disease unfolds. allergic disease process The process in which cancer unfolds cancer process The process in which an autoimmune disease unfolds. autoimmune disease process progression stage cancer progression stage A cancer progression stage characterized by abnormal cellular growth contained within normal tissue boundaries (e.g. carcinoma in situ). cancer progression stage 0 A cancer progression stage characterized by abnormal cellular growth that extends through normal local tissue boundaries as a contiguous mass. cancer progression stage I A cancer progression stage characterized by abnormal cellular growth that extends well beyond normal local tissue boundaries as a contiguous mass. cancer progression stage II A cancer progression stage characterized by abnormal cellular growth that extends through normal local tissue boundaries as a contiguous mass and includes metastasis to one or more regional draining lymph nodes. cancer progression stage III A cancer progression stage characterized by abnormal cellular growth that extends through normal local tissue boundaries as a contiguous mass and includes metastasis to other distant tissues besides lymph nodes. cancer progression stage IV The process in which an infectious disease unfolds infectious disease process An abnormal processual entity occuring in a patient that is hypothesized to be clinically relevant. processual sign An abnormal observable quality of a part of a patient that is hypothesized to be clinically relevant. Example: the color of a rash; the shape of a melanoma qualitative sign A therapeutic procedure in which a body part is transferred into a organism transplantation A transplantation in which the body part is a non-fluid tissue solid organ transplant A transplantation in which the body part is a bodily fluid transfusion A disorder of some macroscopic part of a tissue tissue disorder A tissue disorder that has resulted from a dysregulation of cell proliferation leading to a net increase in mass neoplasm A part of a disease course This class should be imported from OBI. https://github.com/OGMS/ogms/issues/105 disease stage