National Cancer Institute Thesaurus / 美国国家癌症研究所词典

Last uploaded: September 7, 2023

Preferred Name	Urea Cycle Metabolism Disorder
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 Disorder of Urea Cycle Metabolism Inborn Urea Cycle Disorder
label	Urea Cycle Metabolism Disorder
Preferred_Name	Urea Cycle Metabolism Disorder
prefixIRI	Thesaurus:C84785
prefLabel	Urea Cycle Metabolism Disorder
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0154246
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34816

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