glutamine deficiency, congenital

Preferred Label : glutamine deficiency, congenital;

MeSH synonym : glutamine synthetase deficiency, congenital systemic; glutamine synthase deficiency, congenital systemic;

Details

Origin ID

C536832;

UMLS CUI

C1864910;

Currated CISMeF NLP mapping
- Congenital brain dysgenesis due to glutamine synthetase deficiency [ICD-11 More detail]
- Glutamine deficiency, congenital [OMIM Phenotype]
MeSH term(s) associated for indexing
- amino acid metabolism, inborn errors [MeSH Descriptor]
- glutamate-ammonia ligase [MeSH Descriptor]
Record concept(s)
- Glutamine deficiency, congenital [MeSH concept]
See also (suggested by CISMeF)
- glutamine [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital brain dysgenesis due to glutamine synthetase deficiency [ORDO Disease]
- Congenital brain dysgenesis due to glutamine synthetase deficiency [ICD-11 More detail]
- Glutamine deficiency, congenital [OMIM Phenotype]

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