N-Acetylglutamate Synthase Deficiency

Preferred Label : N-Acetylglutamate Synthase Deficiency;

NCIt synonyms : NAGSD;

NCIt definition : An autosomal recessive disorder caused by mutation(s) in the NAGS gene, encoding N-acetylglutamate synthase, mitochondrial. It may be characterized by failure to thrive, hyperammonemia, lethargy, seizures, and coma.;

Details

Origin ID

C129307;

UMLS CUI

C0268543;

Automatic exact mappings (from CISMeF team)
- N-acetylglutamate synthase deficiency [Artificial nutrition thesaurus concept]
- N-acetylglutamate synthase deficiency [DO Concept]
Currated CISMeF NLP mapping
- 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-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 [ICD-11 More detail]
- N-acetylglutamate synthase deficiency [OMIM Phenotype]
- amino acid acetyltransferase deficiency [Disease (Nov.)]
- hyperammonemia, type iii [SNOMED Notion]
See also inter- (CISMeF)
- Hyperammonaemia due to N-acetylglutamate synthetase deficiency [ICD-11 More detail]
- Hyperammonemia due to N-acetylglutamate synthase deficiency [ORDO Disease]
- N-acetyl glutamate synthetase deficiency [MeSH Supplementary Concept]
- N-acetylglutamate synthase deficiency [OMIM Phenotype]
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-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]
- N-acetylglutamate synthase deficiency [ICD-11 More detail]
- amino acid acetyltransferase deficiency [Disease (Nov.)]
- hyperammonemia, type iii [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- NAGS Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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