pyruvate dehydrogenase complex deficiency - CISMeF

CISMeF

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Pyruvate dehydrogenase complex deficiencySNOMED Notion

Preferred Label : pyruvate dehydrogenase complex deficiency;

Details

Origin ID

D6-58100;

UMLS CUI

C0034345;

Automatic exact mappings (from CISMeF team)
- ataxia with lactic acidosis, type I [MeSH concept]
Currated CISMeF NLP mapping
- Decreased activity of the pyruvate dehydrogenase complex [HPO term]
- Deficiency of pyruvate decarboxylase (disorder) [SNOMED CT concept]
- Disorders of pyruvate metabolism and gluconeogenesis [ICD-10 Sub-category]
- Disorders of pyruvate metabolism and gluconeogenesis [ICD-10 Sub-category (who)]
- Pyruvate Dehydrogenase Deficiency [NCIt concept]
- Pyruvate dehydrogenase complex deficiency [ICD-11 Sub-sub category]
- Pyruvate dehydrogenase complex deficiency [MedDRA Preferred Term]
- Pyruvate dehydrogenase complex deficiency [OMIM phenotypic series]
- Pyruvate dehydrogenase complex deficiency (disorder) [SNOMED CT concept]
- Pyruvate dehydrogenase deficiency [ORDO Disease]
- Pyruvate dehydrogenase e1-alpha deficiency [OMIM Phenotype]
- pyruvate decarboxylase deficiency [Disease (Nov.)]
- pyruvate decarboxylase deficiency [DO Concept]
- pyruvate dehydrogenase complex deficiency disease [MeSH Descriptor]
- pyruvate dehydrogenase complex deficiency disease [MeSH concept]
ICD-10 exact mapping(s)
- Disorders of pyruvate metabolism and gluconeogenesis [ICD-10 Sub-category (who)]
Manual BTNT mappings - CISMeF
- Pyruvate dehydrogenase E1-alpha deficiency [ORDO Disease]
- Pyruvate dehydrogenase E2 deficiency [ORDO Disease]
- Pyruvate dehydrogenase phosphatase deficiency [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Syndromic neurometabolic disease with X-linked intellectual disability [ORDO Disease]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- pyruvate [SNOMED Notion]
SNOMED CT concept
- Pyruvate dehydrogenase complex deficiency (disorder) [SNOMED CT concept]
See also inter- (CISMeF)
- Pyruvate carboxylase deficiency [ICD-11 Sub-sub category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of pyruvate decarboxylase (disorder) [SNOMED CT concept]
- Pyruvate Dehydrogenase Deficiency [NCIt concept]
- Pyruvate dehydrogenase E1-alpha deficiency [ORDO Disease]
- Pyruvate dehydrogenase complex deficiency [MedDRA Preferred Term]
- Pyruvate dehydrogenase complex deficiency (disorder) [SNOMED CT concept]
- Pyruvate dehydrogenase deficiency [ORDO Disease]
- pyruvate decarboxylase deficiency [Disease (Nov.)]
- pyruvate decarboxylase deficiency [DO Concept]
- pyruvate dehydrogenase complex deficiency disease [MeSH Descriptor]
- pyruvate dehydrogenase complex deficiency disease [MeSH concept]
Validated automatic mappings to BTNT
- Pyruvate dehydrogenase complex E1-alpha subunit deficiency (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- Disorders of pyruvate metabolism [ICD-11 Subcategory]

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16/05/2024

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