Congenital brain dysgenesis due to glutamine synthetase deficiency

Preferred Label : Congenital brain dysgenesis due to glutamine synthetase deficiency;

ICD-11 definition : This refers to congenital brain dysgenesis due to the deficiency in an enzyme that plays an essential role in the metabolism of nitrogen by catalyzing the condensation of glutamate and ammonia to form glutamine.;

ICD-11 synonym : Congenital glutamine deficiency; Congenital glutamine synthase deficiency;

Details

Origin ID

238162640;

UMLS CUI

C1864910;

Currated CISMeF NLP mapping
- Congenital brain dysgenesis due to glutamine synthetase deficiency [ORDO Disease]
- Glutamine deficiency, congenital [MeSH concept]
- Glutamine deficiency, congenital [OMIM Phenotype]
- glutamine deficiency, congenital [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital brain dysgenesis due to glutamine synthetase deficiency [ORDO Disease]
- Glutamine deficiency, congenital [OMIM Phenotype]
- Glutamine deficiency, congenital [MeSH concept]
- glutamine deficiency, congenital [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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