Hyperammonaemia due to N-acetylglutamate synthetase deficiency

Preferred Label : Hyperammonaemia due to N-acetylglutamate synthetase deficiency;

ICD-11 definition : N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia with variable clinical manifestations including vomiting, hyperactivity or lethargy, diarrhoea, poor feeding, seizures, hypotonia, delayed psychomotor development and respiratory distress. The hyperammonaemia is often severe and may lead to hyperammonaemic coma.;

ICD-11 synonym : NAGS deficiency; NAGS - [Hyperammonaemia due to N-acetylglutamate synthetase] deficiency;

Details

Origin ID

812653109;

UMLS CUI

C0268543;

Automatic exact mappings (from CISMeF team)
- amino-acid n-acetyltransferase [MeSH Descriptor]
Currated CISMeF NLP mapping
- 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 [OMIM Phenotype]
- hyperammonemia, type iii [SNOMED Notion]
See also inter- (CISMeF)
- 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 [MedDRA Preferred Term]
- amino acid acetyltransferase deficiency [Disease (Nov.)]
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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