Systematized Nomenclature of Medicine, International Version

Last uploaded: January 31, 2024

Preferred Name	Hyperammonemia, type III
Synonyms	N-acetylglutamate transferase deficiency
ID	http://purl.bioontology.org/ontology/SNMI/D6-A5230
altLabel	N-acetylglutamate transferase deficiency N-acetylglutamate synthetase deficiency AGA deficiency Amino acid acetyltransferase deficiency Hyperammonaemia, type III Congenital AGA deficiency
Associated with	http://purl.bioontology.org/ontology/SNMI/F-68410 http://purl.bioontology.org/ontology/SNMI/M-27000
cui	C0268543
notation	D6-A5230
prefLabel	Hyperammonemia, type III
SIC	270.6
SMX	(M-27000) (F-68410)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/SNMI/D6-A5000

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRGER/10071092	MDRGER	CUI
http://purl.bioontology.org/ontology/SCTSPA/57119000	SCTSPA	CUI
http://purl.bioontology.org/ontology/MESH/C536109	MESH	CUI
http://purl.bioontology.org/ontology/OMIM/608300	OMIM	CUI
http://purl.bioontology.org/ontology/RCD/X40SM	RCD	CUI
http://purl.bioontology.org/ontology/MDRFRE/10071092	MDRFRE	CUI
http://purl.bioontology.org/ontology/OMIM/237310	OMIM	CUI
http://purl.bioontology.org/ontology/CSP/1849-9321	CRISP	CUI
http://purl.bioontology.org/ontology/MEDDRA/10071092	MEDDRA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/57119000	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/57119000	SNOMEDCT	LOOM