Phosphoenolpyruvate Carboxykinase Deficiency

Preferred Label : Phosphoenolpyruvate Carboxykinase Deficiency;

NCIt related terms : Phosphoenolpyruvate Carboxykinase (GTP) Deficiency;

NCIt definition : A very rare, autosomal recessive inherited disorder caused by deficiency of the enzyme phosphoenolpyruvate carboxykinase, which is involved in gluconeogenesis. It presents with hypoglycemia, failure to thrive, metabolic acidosis, muscle weakness, and hepatomegaly.;

Details

Origin ID

C99015;

UMLS CUI

C0268194;

Automatic exact mappings (from CISMeF team)
- Disorders of pyruvate metabolism and gluconeogenesis [ICD-10 Sub-category]
Currated CISMeF NLP mapping
- Phosphoenolpyruvate carboxykinase deficiency [ORDO Disease]
- Phosphoenolpyruvate carboxykinase deficiency [MeSH concept]
- Phosphoenolpyruvate carboxykinase deficiency [ICD-11 More detail]
- Phosphoenolpyruvate carboxykinase deficiency (disorder) [SNOMED CT concept]
- phosphoenolpyruvate carboxykinase (gtp) deficiency [SNOMED Notion]
- phosphoenolpyruvate carboxykinase deficiency [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Phosphoenolpyruvate carboxykinase deficiency [ORDO Disease]
- Phosphoenolpyruvate carboxykinase deficiency [MeSH concept]
- 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]
- phosphoenolpyruvate carboxykinase deficiency [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Phosphoenolpyruvate carboxykinase deficiency, cytosolic [OMIM Phenotype]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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