N-acetyl glutamate synthetase deficiency

Preferred Label : N-acetyl glutamate synthetase deficiency;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0530570;

UMLS CUI

C0268543;

Automatic exact mappings (from CISMeF team)
- N-acetylglutamate synthase deficiency [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- Hyperammonemia, type III (disorder) [SNOMED CT concept]
- N-Acetylglutamate Synthase Deficiency [NCIt concept]
- N-acetylglutamate synthase deficiency [ICD-11 More detail]
- N-acetylglutamate synthase deficiency [MedDRA Preferred Term]
- N-acetylglutamate synthase deficiency [OMIM Phenotype]
- amino acid acetyltransferase deficiency [Disease (Nov.)]
- hyperammonemia, type iii [SNOMED Notion]
Related record
- N-acetyl glutamate synthetase deficiency [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Hyperammonaemia due to N-acetylglutamate synthetase deficiency [ICD-11 More detail]
- Hyperammonemia due to N-acetylglutamate synthase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperammonaemia due to N-acetylglutamate synthetase deficiency [ICD-11 More detail]
- Hyperammonemia due to N-acetylglutamate synthase deficiency [ORDO Disease]
- Hyperammonemia, type III (disorder) [SNOMED CT concept]
- N-Acetylglutamate Synthase Deficiency [NCIt concept]
- N-acetylglutamate synthase deficiency [MedDRA Preferred Term]
- N-acetylglutamate synthase deficiency [OMIM Phenotype]
- N-acetylglutamate synthase deficiency [ICD-11 More detail]
- amino acid acetyltransferase deficiency [Disease (Nov.)]
- hyperammonemia, type iii [SNOMED Notion]