2-hydroxyglutaric aciduria

Preferred Label : 2-hydroxyglutaric aciduria;

ICD-11 definition : 2-hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.;

Détails

Origin ID

896211058;

UMLS CUI

C2746066;

Automatic exact mappings (from CISMeF team)
- 2-Hydroxyglutaric aciduria [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- 2-Hydroxyglutaric Aciduria [NCIt concept]
- 2-Hydroxyglutaricaciduria [MeSH Supplementary Concept]
- 2-Hydroxyglutaricaciduria [MeSH concept]
- 2-hydroxyglutarate aciduria [HPO term]
- 2-hydroxyglutaric aciduria [DO Concept]
- 2-hydroxyglutaric aciduria [ORDO Disease]
- 2-hydroxyglutaric aciduria (disorder) [SNOMED CT concept]
- Combined D-2- and L-2-hydroxyglutaric aciduria [OMIM Phenotype]
- Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (disorder) [SNOMED CT concept]
- D,L-2-hydroxyglutaric aciduria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 2-Hydroxyglutaric Aciduria [NCIt concept]
- 2-Hydroxyglutaric aciduria [MedDRA Preferred Term]
- 2-Hydroxyglutaricaciduria [MeSH concept]
- 2-Hydroxyglutaricaciduria [MeSH Supplementary Concept]
- 2-hydroxyglutaric aciduria [DO Concept]
- 2-hydroxyglutaric aciduria [ORDO Disease]
- 2-hydroxyglutaric aciduria (disorder) [SNOMED CT concept]
- Combined D-2- and L-2-hydroxyglutaric aciduria [OMIM Phenotype]
- Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (disorder) [SNOMED CT concept]
- D-2-hydroxyglutaric aciduria [ORDO Disease]
Validated automatic mappings to BTNT
- 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 (disorder) [SNOMED CT concept]
- 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]

Position du mot-clé dans l'(les) arborescence(s) :

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