Central Core Disease

Preferred Label : Central Core Disease;

NCIt synonyms : Central Core Myopathy;

NCIt definition : An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation.;

Details

Origin ID

C83010;

UMLS CUI

C0751951;

Currated CISMeF NLP mapping
- Central core disease [ICD-11 Sub-sub category]
- Central core disease [MedDRA Preferred Term]
- Central core disease [ORDO Disease]
- Central core disease (disorder) [SNOMED CT concept]
- Central core myopathy [PASCAL descriptor]
- Congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia [OMIM Phenotype]
- central core disease [DO Concept]
- central core disease [Disease (Nov.)]
- central core disease [SNOMED Notion]
- myopathy, central core [MeSH Descriptor]
- myopathy, central core [MeSH concept]
DO Cross reference
- central core disease [DO Concept]
Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Central core disease [ORDO Disease]
- Central core disease [ICD-11 Sub-sub category]
- Central core disease [MedDRA Preferred Term]
- Central core disease (disorder) [SNOMED CT concept]
- Central core myopathy [PASCAL descriptor]
- Congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia [OMIM Phenotype]
- Shy-Magee syndrome [MedDRA LLT]
- central core disease [DO Concept]
- central core disease [Disease (Nov.)]
- central core disease [SNOMED Notion]
- myopathy, central core [MeSH concept]
- myopathy, central core [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]
disease_mapped_to_gene
- RYR1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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