pyruvate dehydrogenase E3-Binding protein deficiency

Preferred Label : pyruvate dehydrogenase E3-Binding protein deficiency;

MeSH note : mutation in PDHX;

MeSH synonym : lactic acidemia due to defect in Lipoyl-Containing component X of the pyruvate dehydrogenase complex;

Détails

Origin ID

C565447;

UMLS CUI

C1855553;

CISMeF manual mappings
- Pyruvate dehydrogenase complex E3-binding protein deficiency [ICD-11 More detail]
Currated CISMeF NLP mapping
- Pyruvate dehydrogenase E3-binding protein deficiency [ORDO Disease]
- Pyruvate dehydrogenase e3-binding protein 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 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 complex E3-binding protein deficiency [ICD-11 More detail]
- Pyruvate dehydrogenase e3-binding protein deficiency [OMIM Phenotype]

Position du mot-clé dans l'(les) arborescence(s) :

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