Terminology Service for NFDI4Health
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Congenital Metabolic Disorder

Go to external page http://purl.obolibrary.org/obo/NCIT_C34816

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. [ ]

Term info

Label

Congenital Metabolic Disorder

Synonyms
  • Congenital Metabolic Disorder
  • Congenital Metabolism Disorder
  • Inborn Error of Metabolism
  • Inborn Errors of Metabolism
Subsets

NCIT_C99147, NCIT_C90259, NCIT_C89506

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C97151, http://purl.obolibrary.org/obo/NCIT_C3235

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: