Pyruvate dehydrogenase complex E3-binding protein deficiency

Preferred Label : Pyruvate dehydrogenase complex E3-binding protein deficiency;

ICD-11 definition : Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, ) characterized by variable lactic acidosis and neurological dysfunction.;

Details

Origin ID

1340729972;

UMLS CUI

C1855553;

CISMeF manual mappings
- pyruvate dehydrogenase E3-Binding protein deficiency [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Pyruvate dehydrogenase E3-binding protein deficiency [ORDO Disease]
- Pyruvate dehydrogenase e3-binding protein deficiency [OMIM Phenotype]
- pyruvate dehydrogenase E3-Binding protein deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pyruvate dehydrogenase E3-binding protein deficiency [ORDO Disease]
- Pyruvate dehydrogenase e3-binding protein deficiency [OMIM Phenotype]
- pyruvate dehydrogenase E3-Binding protein deficiency [MeSH concept]
- pyruvate dehydrogenase E3-Binding protein deficiency [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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