pyruvate dehydrogenase E1 alpha deficiency

Preferred Label : pyruvate dehydrogenase E1 alpha deficiency;

MeSH synonym : lactic acidemia, thiamine responsive;

Origin ID

C564071;

UMLS CUI

C1839413;

Automatic exact mappings (from CISMeF team)
- Pyruvate dehydrogenase E1-alpha deficiency [ORDO Disease]
- Pyruvate dehydrogenase e1-alpha deficiency [OMIM Phenotype]
MeSH term(s) associated for indexing
- acidosis, lactic [MeSH Descriptor]
- pyruvate dehydrogenase (lipoamide) [MeSH Descriptor]
Record concept(s)
- pyruvate dehydrogenase E1 alpha deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pyruvate dehydrogenase complex E1-alpha subunit deficiency [ICD-11 More detail]
- Pyruvate dehydrogenase e1-alpha deficiency [OMIM Phenotype]