pyruvate dehydrogenase E2 deficiency

Preferred Label : pyruvate dehydrogenase E2 deficiency;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0565748;

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]
Related record
- pyruvate dehydrogenase E2 deficiency [MeSH Supplementary 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]