2-Hydroxyglutaricaciduria

Preferred Label : 2-Hydroxyglutaricaciduria;

CISMeF synonym : D-2-hydroxyglutaric aciduria; L-2-hydroxyglutaric aciduria; combined D-2- and L-2-hydroxyglutaric aciduria;

MeSH synonym : 2-Hga; 2-Hydroxyglutaric aciduria;

MeSH hyponym : D-2-HGA; D-2-Hydroxyglutaric Acidemia; L-2-HGA; L-2-Hydroxyglutaric Acidemia;

Related MeSH term : D-2-hydroxyglutaric and L-2-hydroxyglutaric aciduria;

Details

Origin ID

C535306;

UMLS CUI

C2746066;

Automatic exact mappings (from CISMeF team)
- 2-Hydroxyglutaric aciduria [MedDRA Preferred Term]
- combined D-2- and L-2-hydroxyglutaric aciduria [DO Concept]
Currated CISMeF NLP mapping
- 2-Hydroxyglutaric Aciduria [NCIt concept]
- 2-hydroxyglutarate aciduria [HPO term]
- 2-hydroxyglutaric aciduria [DO Concept]
- 2-hydroxyglutaric aciduria [ICD-11 More detail]
- 2-hydroxyglutaric aciduria [ORDO Disease]
- 2-hydroxyglutaric aciduria (disorder) [SNOMED CT concept]
- Combined D-2- and L-2-hydroxyglutaric aciduria [OMIM Phenotype]
- D 2 hydroxyglutaric aciduria [Disease (Nov.)]
- D,L-2-hydroxyglutaric aciduria [ORDO Disease]
- D-2-hydroxyglutaric aciduria [HPO term]
- D-2-hydroxyglutaric aciduria [DO Concept]
- D-2-hydroxyglutaric aciduria [ICD-11 More detail]
- D-2-hydroxyglutaric aciduria [OMIM phenotypic series]
- D-2-hydroxyglutaric aciduria [ORDO Disease]
- D-2-hydroxyglutaric aciduria (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- brain diseases, metabolic, inborn [MeSH Descriptor]
Record concept(s)
- 2-Hydroxyglutaricaciduria [MeSH concept]
- Combined D-2- and L-2-hydroxyglutaric aciduria [MeSH concept]
- D-2-hydroxyglutaric aciduria [MeSH concept]
- L-2-hydroxyglutaric aciduria [MeSH concept]
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-hydroxyglutaric aciduria [ORDO Disease]
- 2-hydroxyglutaric aciduria [DO Concept]
- 2-hydroxyglutaric aciduria [ICD-11 More detail]
- 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.)]
- L 2 hydroxyglutaric aciduria [Disease (Nov.)]
- L-2-hydroxyglutaric acidemia [HPO term]
- L-2-hydroxyglutaric aciduria [DO Concept]
- L-2-hydroxyglutaric aciduria [ICD-11 More detail]
- L-2-hydroxyglutaric aciduria [HPO term]
- L-2-hydroxyglutaric aciduria [OMIM Phenotype]
- L-2-hydroxyglutaric aciduria [ORDO Disease]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients