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 |
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 | |
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 |
Delete | Mapping To | Ontology | Source |
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There are currently no mappings for this class. |