N-acetylglutamate synthase deficiency

Preferred Label : N-acetylglutamate synthase deficiency;

ICD-11 synonym : NAGS - [N-acetylglutamate synthase deficiency];

ICD-11 acronym : NAGS;

Details

Origin ID

1096683428;

UMLS CUI

C0268543;

Automatic exact mappings (from CISMeF team)
- N-acetylglutamate synthase [OMIM gene]
- N-acetylglutamate synthase [ORDO Gene]
- N-acetylglutamate synthase deficiency [Artificial nutrition thesaurus concept]
- acrofacial dysostosis, nager type [MeSH Supplementary Concept]
- swimming [ICF N3 Element]
Currated CISMeF NLP mapping
- Hyperammonemia, type III (disorder) [SNOMED CT concept]
- N-Acetylglutamate Synthase Deficiency [NCIt concept]
- N-acetyl glutamate synthetase deficiency [MeSH Supplementary Concept]
- N-acetyl glutamate synthetase deficiency [MeSH concept]
- N-acetylglutamate synthase deficiency [OMIM Phenotype]
- N-acetylglutamate synthase deficiency [MedDRA Preferred Term]
- amino acid acetyltransferase deficiency [Disease (Nov.)]
- hyperammonemia, type iii [SNOMED Notion]
See also inter- (CISMeF)
- Hyperammonemia due to N-acetylglutamate synthase deficiency [ORDO Disease]
- amino-acid n-acetyltransferase [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperammonemia due to N-acetylglutamate synthase deficiency [ORDO Disease]
- Hyperammonemia, type III (disorder) [SNOMED CT concept]
- N-Acetylglutamate Synthase Deficiency [NCIt concept]
- N-acetyl glutamate synthetase deficiency [MeSH concept]
- N-acetyl glutamate synthetase deficiency [MeSH Supplementary Concept]
- N-acetylglutamate synthase deficiency [MedDRA Preferred Term]
- N-acetylglutamate synthase deficiency [OMIM Phenotype]
- amino acid acetyltransferase deficiency [Disease (Nov.)]
- hyperammonemia, type iii [SNOMED Notion]

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