Metabolic Disorder
Congenital Metabolic Disorder
A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body.
C0025521
C34816
Congenital Metabolic Disorder
Congenital Metabolic Disorder
Congenital Metabolism Disorder
Disease or Syndrome
Inborn Error of Metabolism
Inborn Errors of Metabolism
Inborn_Errors_of_Metabolism
NICHD
Newborn Screening Terminology
NICHD Terminology
Neonatal Research Network Terminology