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. [ NCI ]

Synonyms: Congenital Metabolic Disorder Inborn Error of Metabolism Congenital Metabolism Disorder Inborn Errors of Metabolism

This is just here as a test because I lose it

Term information

Subsets

NCIT_C90259, NCIT_C99147, NCIT_C89506

Legacy Concept Name

Inborn_Errors_of_Metabolism

NICHD Hierarchy Term

Congenital Metabolic Disorder

Preferred Name

Congenital Metabolic Disorder

Semantic Type

Disease or Syndrome

UMLS CUI

C0025521

code

C34816

Term relations

Subclass of: