HyperCKmia - CISMeF

Preferred Label : HyperCKmia;

NCIt synonyms : Isolated HyperCKemia;

NCIt definition : A condition characterized by elevated concentrations of creatine kinase in the blood. It is one of a group of conditions caused by mutation(s) in the CAV3 gene, encoding caveolin-3. Isolated hyperCKmia has no other associated manifestations.;

NCI Metathesaurus CUI : CL550970;

Details

Origin ID

C148327;

UMLS CUI

C4724975;

Automatic exact mappings (from CISMeF team)
- isolated elevated serum creatine phosphokinase levels [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- CAV3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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