pyruvate dehydrogenase E2 deficiency

Preferred Label : pyruvate dehydrogenase E2 deficiency;

MeSH note : mutation in DLAT;

MeSH synonym : lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase complex;

Détails

Origin ID

C565448;

UMLS CUI

C1855565;

Currated CISMeF NLP mapping
- Pyruvate dehydrogenase E2 deficiency [ORDO Disease]
- Pyruvate dehydrogenase complex E2 subunit deficiency [ICD-11 More detail]
- Pyruvate dehydrogenase complex E2 subunit deficiency (disorder) [SNOMED CT concept]
- Pyruvate dehydrogenase e2 deficiency [OMIM Phenotype]
MeSH term(s) associated for indexing
- acidosis, lactic [MeSH Descriptor]
- pyruvate dehydrogenase complex deficiency disease [MeSH Descriptor]
Record concept(s)
- pyruvate dehydrogenase E2 deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pyruvate dehydrogenase E2 deficiency [ORDO Disease]
- Pyruvate dehydrogenase e2 deficiency [OMIM Phenotype]

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