Disorders of pyruvate metabolism and gluconeogenesis

Preferred Label : Disorders of pyruvate metabolism and gluconeogenesis;

Inclusion CIM-10 : Deficiency of pyruvate dehydrogenase; Deficiency of phosphoenolpyruvate carboxykinase; Deficiency of pyruvate carboxylase;

ICD-10 exclusion note : disorders of pyruvate metabolism and gluconeogenesis with anemia (D55.-); Leigh's syndrome (G31.82);

Diag associé à un acte (%) : 95.0;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

E744;

UMLS CUI

C0348946;

Automatic exact mappings (from CISMeF team)
- Phosphoenolpyruvate Carboxykinase Deficiency [NCIt concept]
- Phosphoenolpyruvate carboxykinase deficiency [ORDO Disease]
- Phosphoenolpyruvate carboxykinase deficiency (disorder) [SNOMED CT concept]
- Pyruvate carboxylase deficiency [MedDRA Preferred Term]
- phosphoenolpyruvate carboxykinase deficiency [MeSH Supplementary Concept]
CISMeF manual mappings
- Pyruvate dehydrogenase deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Disorders of pyruvate metabolism and gluconeogenesis (disorder) [SNOMED CT concept]
- Pyruvate Carboxylase Deficiency [NCIt concept]
- Pyruvate Dehydrogenase Deficiency [NCIt concept]
- Pyruvate carboxylase deficiency [ICD-11 Sub-sub category]
- Pyruvate carboxylase deficiency [PASCAL descriptor]
- Pyruvate carboxylase deficiency [OMIM Phenotype]
- Pyruvate carboxylase deficiency [ORDO Disease]
- Pyruvate carboxylase deficiency (disorder) [SNOMED CT concept]
- pyruvate carboxylase deficiency [SNOMED Notion]
- 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]
- pyruvate dehydrogenase complex deficiency [SNOMED Notion]
- pyruvate dehydrogenase complex deficiency disease [MeSH Descriptor]
DO Cross reference
- pyruvate carboxylase deficiency disease [DO Concept]
- pyruvate decarboxylase deficiency [DO Concept]
ICD-10 exclusion(s)
- Anemia due to enzyme disorders [ICD-10 category]
Manual NTBT mappings (CISMeF)
- Pyruvate dehydrogenase E1-alpha deficiency [ORDO Disease]
- Pyruvate dehydrogenase E2 deficiency [ORDO Disease]
- Pyruvate dehydrogenase phosphatase deficiency [ORDO Disease]
Orphanet concepts
- Gluconeogenesis disorder [ORDO Disease]
- Glycogen storage disease due to lactate dehydrogenase deficiency [ORDO Disease]
- Mitochondrial pyruvate carrier deficiency [ORDO Disease]
- Phosphoenolpyruvate carboxykinase 1 deficiency [ORDO Disease]
- Phosphoenolpyruvate carboxykinase 2 deficiency [ORDO Disease]
- Phosphoenolpyruvate carboxykinase deficiency [ORDO Disease]
- Pyruvate carboxylase deficiency [ORDO Disease]
- Pyruvate carboxylase deficiency, benign type [ORDO Disease]
- Pyruvate carboxylase deficiency, infantile type [ORDO Disease]
- Pyruvate carboxylase deficiency, severe neonatal type [ORDO Disease]
- Pyruvate dehydrogenase E1-alpha deficiency [ORDO Disease]
- Pyruvate dehydrogenase E1-beta deficiency [ORDO Disease]
- Pyruvate dehydrogenase E2 deficiency [ORDO Disease]
- Pyruvate dehydrogenase E3 deficiency [ORDO Disease]
- Pyruvate dehydrogenase E3-binding protein deficiency [ORDO Disease]
- Pyruvate dehydrogenase deficiency [ORDO Disease]
- Pyruvate dehydrogenase phosphatase deficiency [ORDO Disease]
- Pyruvate metabolism disorder [ORDO Disease]
See also inter- (CISMeF)
- pyruvate decarboxylase deficiency [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Disorders of pyruvate metabolism [ICD-11 Subcategory]
- Disorders of pyruvate metabolism and gluconeogenesis (disorder) [SNOMED CT concept]
- Pyruvate metabolism disorder [ORDO Disease]
Validated automatic mappings to BTNT
- Disorders of pyruvate metabolism [ICD-11 Subcategory]
- Lactate dehydrogenase deficiency [ICD-11 Sub-sub category]
- Phosphoenolpyruvate carboxykinase deficiency [ICD-11 More detail]
- Pyruvate carboxylase deficiency [ICD-11 Sub-sub category]
- Pyruvate dehydrogenase complex deficiency [ICD-11 Sub-sub category]
- Pyruvate dehydrogenase complex deficiency (disorder) [SNOMED CT concept]
- Pyruvate kinase deficiency [ICD-11 Sub-sub category]

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