D-2-hydroxyglutaric aciduria

Preferred Label : D-2-hydroxyglutaric aciduria;

ICD-11 definition : D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.;

ICD-11 acronym : D-2-HGA;

Details

Origin ID

1170122566;

Currated CISMeF NLP mapping
- 2-Hydroxyglutaricaciduria [MeSH Supplementary Concept]
- D 2 hydroxyglutaric aciduria [Disease (Nov.)]
- D-2-hydroxyglutaric aciduria [DO Concept]
- D-2-hydroxyglutaric aciduria [HPO term]
- D-2-hydroxyglutaric aciduria [ORDO Disease]
- D-2-hydroxyglutaric aciduria [OMIM phenotypic series]
- D-2-hydroxyglutaric aciduria (disorder) [SNOMED CT concept]
See also inter- (CISMeF)
- L-2-hydroxyglutaric aciduria [DO Concept]
- L-2-hydroxyglutaric aciduria [OMIM Phenotype]
- L-2-hydroxyglutaric aciduria [ORDO Disease]
- L-2-hydroxyglutaric aciduria (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- D-2-hydroxyglutaric aciduria 1 [OMIM Phenotype]
Validated automatic mappings to NTBT
- 2-Hydroxyglutaric Aciduria [NCIt concept]
- 2-Hydroxyglutaricaciduria [MeSH concept]
- 2-hydroxyglutaric aciduria [DO Concept]
- 2-hydroxyglutaric aciduria [ORDO Disease]
- 2-hydroxyglutaric aciduria (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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