phosphoenolpyruvate carboxykinase deficiency, mitochondrial

Preferred Label : phosphoenolpyruvate carboxykinase deficiency, mitochondrial;

MeSH synonym : Phosphoenolpyruvate carboxykinase 2 deficiency;

Details

Origin ID

C564890;

UMLS CUI

C1849821;

Currated CISMeF NLP mapping
- Phosphoenolpyruvate carboxykinase 2 deficiency [ICD-11 More detail]
- Phosphoenolpyruvate carboxykinase 2 deficiency [ORDO Disease]
- Phosphoenolpyruvate carboxykinase deficiency, mitochondrial [OMIM Phenotype]
MeSH term(s) associated for indexing
- carbohydrate metabolism, inborn errors [MeSH Descriptor]
- mitochondrial diseases [MeSH Descriptor]
- phosphoenolpyruvate carboxykinase (atp) [MeSH Descriptor]
Record concept(s)
- phosphoenolpyruvate carboxykinase deficiency, mitochondrial [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Phosphoenolpyruvate carboxykinase deficiency, mitochondrial [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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