pyruvate carboxylase deficiency - CISMeF

CISMeF

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Pyruvate carboxylase deficiencySNOMED Notion

Preferred Label : pyruvate carboxylase deficiency;

Details

Origin ID

D6-58110;

UMLS CUI

C0034341;

Automatic exact mappings (from CISMeF team)
- Disorders of pyruvate metabolism and gluconeogenesis [ICD-10 Sub-category (who)]
- Pyruvate carboxylase deficiency [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Disorders of pyruvate metabolism and gluconeogenesis [ICD-10 Sub-category]
- Pyruvate Carboxylase Deficiency [NCIt concept]
- Pyruvate carboxylase deficiency [PASCAL descriptor]
- Pyruvate carboxylase deficiency [ICD-11 Sub-sub category]
- Pyruvate carboxylase deficiency [OMIM Phenotype]
- Pyruvate carboxylase deficiency [ORDO Disease]
- Pyruvate carboxylase deficiency (disorder) [SNOMED CT concept]
- pyruvate carboxylase deficiency [Disease (Nov.)]
- pyruvate carboxylase deficiency disease [DO Concept]
- pyruvate carboxylase deficiency disease [MeSH Descriptor]
- pyruvate carboxylase deficiency disease [MeSH concept]
- pyruvate decarboxylase deficiency [DO Concept]
Has phenotype(s) (HPO)
- Neuronal loss [HPO term]
ICD-10 exact mapping(s)
- Disorders of pyruvate metabolism and gluconeogenesis [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Gluconeogenesis disorder [ORDO Disease]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- congenital deficiency, nos [SNOMED Notion]
- pyruvate carboxylase [SNOMED Notion]
SNOMED CT concept
- Pyruvate carboxylase deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pyruvate Carboxylase Deficiency [NCIt concept]
- Pyruvate carboxylase deficiency [OMIM Phenotype]
- Pyruvate carboxylase deficiency [ORDO Disease]
- Pyruvate carboxylase deficiency [PASCAL descriptor]
- Pyruvate carboxylase deficiency [MedDRA Preferred Term]
- Pyruvate carboxylase deficiency (disorder) [SNOMED CT concept]
- pyruvate carboxylase deficiency [Disease (Nov.)]
- pyruvate carboxylase deficiency disease [MeSH Descriptor]
- pyruvate carboxylase deficiency disease [MeSH concept]
- pyruvate carboxylase deficiency disease [DO Concept]

Keyword's position in hierarchy(ies) :

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13/05/2024

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