Pyruvate dehydrogenase complex E2 subunit deficiency

Preferred Label : Pyruvate dehydrogenase complex E2 subunit deficiency;

ICD-11 definition : Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, ) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.;

ICD-11 synonym : Lipoate transacetylase deficiency; Dihydrolipoyl acetyltransferase deficiency; Lipoate acetyltransferase deficiency; Dihydrolipoyl transacetylase deficiency; Dihydrolipolyllysine-residue acetyltransferase; Dihydrolipoamide acetyltransferase deficiency;

Details

Origin ID

1626957624;

UMLS CUI

C1291337;

CISMeF manual mappings
- Pyruvate dehydrogenase E2 deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Deficiency of dihydrolipoamide acetyltransferase (disorder) [SNOMED CT concept]
- Pyruvate dehydrogenase complex E2 subunit deficiency (disorder) [SNOMED CT concept]
- Pyruvate dehydrogenase e2 deficiency [OMIM Phenotype]
- pyruvate dehydrogenase E2 deficiency [MeSH concept]
- pyruvate dehydrogenase E2 deficiency [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of dihydrolipoamide acetyltransferase (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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