National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

Congenital Metabolic Disorder

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34816

ALT_DEFINITION

Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.

code

C34816

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C89506

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147

Contributing_Source

NICHD

DEFINITION

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.

FULL_SYN

Inborn Error of Metabolism

Inborn Errors of Metabolism

Congenital Metabolism Disorder

Has_NICHD_Parent

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3235

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97151

label

Congenital Metabolic Disorder

Legacy_Concept_Name

Inborn_Errors_of_Metabolism

NICHD_Hierarchy_Term

Congenital Metabolic Disorder

Preferred_Name

Congenital Metabolic Disorder

prefixIRI

C34816

prefLabel

Congenital Metabolic Disorder

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0025521

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3235

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