National Cancer Institute Thesaurus

Last uploaded: February 23, 2024

Preferred Name	Urea Cycle Metabolism Disorder
Synonyms	Urea Cycle Metabolism Disorder Inborn Urea Cycle Disorder Disorder of Urea Cycle Metabolism
Definitions	A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84785
code	C84785
Concept_In_Subset	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 genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.
FULL_SYN	Urea Cycle Metabolism Disorder Inborn Urea Cycle Disorder Disorder of Urea Cycle Metabolism
label	Urea Cycle Metabolism Disorder
Preferred_Name	Urea Cycle Metabolism Disorder
prefixIRI	Thesaurus:C84785
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0154246
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34816 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

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Mapping To	Ontology	Source
http://www.owl-ontologies.com/Ontology1358660052.owl#Urea_Cycle_Metabolism_Disorder	PEDTERM	LOOM
http://purl.obolibrary.org/obo/NCIT_C84785	BERO	LOOM
http://pat.nichd.nih.gov/maternalconditions/C0154246	PATMHC	LOOM