L-2-hydroxyglutaric aciduria

Preferred Label : L-2-hydroxyglutaric aciduria;

ICD-11 definition : L-2-hydroxyglutaric aciduria is a primarily neurological form of 2- hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.;

Details

Origin ID

562958433;

UMLS CUI

C1855995;

Currated CISMeF NLP mapping
- L 2 hydroxyglutaric aciduria [Disease (Nov.)]
- L-2-hydroxyglutaric aciduria [DO Concept]
- L-2-hydroxyglutaric aciduria [OMIM Phenotype]
- L-2-hydroxyglutaric aciduria [HPO term]
- L-2-hydroxyglutaric aciduria [ORDO Disease]
- L-2-hydroxyglutaric aciduria (disorder) [SNOMED CT concept]
See also inter- (CISMeF)
- D,L-2-hydroxyglutaric aciduria [ORDO Disease]
- D-2-hydroxyglutaric aciduria [HPO term]
- D-2-hydroxyglutaric aciduria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- L 2 hydroxyglutaric aciduria [Disease (Nov.)]
- L-2-hydroxyglutaric aciduria [HPO term]
- L-2-hydroxyglutaric aciduria [OMIM Phenotype]
- L-2-hydroxyglutaric aciduria (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- 2-Hydroxyglutaricaciduria [MeSH Supplementary Concept]
- 2-Hydroxyglutaricaciduria [MeSH concept]
- 2-hydroxyglutaric aciduria [ORDO Disease]
- 2-hydroxyglutaric aciduria (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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