phosphoenolpyruvate carboxykinase deficiency

Preferred Label : phosphoenolpyruvate carboxykinase deficiency;

MeSH synonym : phosphoenolpyruvate carboxylase deficiency; phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency; phosphopyruvate carboxylase deficiency; phosphoenolpyruvate carboxykinase deficiency, cytosolic;

Details

Origin ID

C536654;

UMLS CUI

C0268194;

Automatic exact mappings (from CISMeF team)
- Disorders of pyruvate metabolism and gluconeogenesis [ICD-10 Sub-category]
- Disorders of pyruvate metabolism and gluconeogenesis [ICD-10 Sub-category (who)]
- Phosphoenolpyruvate carboxykinase deficiency, cytosolic [OMIM Phenotype]
CISMeF manual mappings
- Phosphoenolpyruvate carboxykinase deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Phosphoenolpyruvate Carboxykinase Deficiency [NCIt concept]
- Phosphoenolpyruvate carboxykinase deficiency [ICD-11 More detail]
- Phosphoenolpyruvate carboxykinase deficiency (disorder) [SNOMED CT concept]
- phosphoenolpyruvate carboxykinase (gtp) deficiency [SNOMED Notion]
MeSH term(s) associated for indexing
- carbohydrate metabolism, inborn errors [MeSH Descriptor]
- liver diseases [MeSH Descriptor]
- phosphoenolpyruvate carboxykinase (gtp) [MeSH Descriptor]
ORDO relation(s)
- Phosphoenolpyruvate carboxykinase deficiency [ORDO Disease]
Record concept(s)
- Phosphoenolpyruvate carboxykinase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Phosphoenolpyruvate Carboxykinase Deficiency [NCIt concept]
- Phosphoenolpyruvate carboxykinase deficiency [ORDO Disease]
- Phosphoenolpyruvate carboxykinase deficiency [ICD-11 More detail]
- Phosphoenolpyruvate carboxykinase deficiency (disorder) [SNOMED CT concept]
- Phosphoenolpyruvate carboxykinase deficiency, cytosolic [OMIM Phenotype]
- phosphoenolpyruvate carboxykinase (gtp) deficiency [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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