alpha-ketoglutarate dehydrogenase deficiency

Preferred Label : alpha-ketoglutarate dehydrogenase deficiency;

MeSH synonym : oxoglutaricaciduria; 2 alpha ketoglutarate dehydrogenase deficiency; 2-Ketoglutarate dehydrogenase deficiency; oxoglutaric aciduria;

Details

Origin ID

C536582;

UMLS CUI

C2752074;

Currated CISMeF NLP mapping
- Alpha-ketoglutarate dehydrogenase deficiency [ICD-11 More detail]
- Deficiency of alpha-ketoglutarate dehydrogenase (disorder) [SNOMED CT concept]
- Deficiency of oxoglutarate dehydrogenase (lipoamide) (disorder) [SNOMED CT concept]
- Oxoglutarate dehydrogenase deficiency [OMIM Phenotype]
- Oxoglutaric aciduria [ORDO Disease]
Has phenotype(s) (HPO)
- Early death [HPO term]
MeSH term(s) associated for indexing
- amino acid metabolism, inborn errors [MeSH Descriptor]
- ketoglutarate dehydrogenase complex [MeSH Descriptor]
ORDO relation(s)
- Oxoglutaric aciduria [ORDO Disease]
Record concept(s)
- Alpha-ketoglutarate dehydrogenase deficiency [MeSH concept]
See also (suggested by CISMeF)
- ketoglutaric acids [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of alpha-ketoglutarate dehydrogenase (disorder) [SNOMED CT concept]
- Oxoglutarate dehydrogenase deficiency [OMIM Phenotype]
- Oxoglutaric aciduria [ORDO Disease]

Keyword's position in hierarchy(ies) :

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