Central core disease

ICD-11 code : 8C72.02;

Preferred Label : Central core disease;

ICD-11 definition : Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy (hypotonia and motor developmental delay) and is characterized by predominantly proximal weakness, pronounced in the hip girdle.;

ICD-11 acronym : CCD;

Details

Origin ID

2065822840;

UMLS CUI

C0751951;

Automatic exact mappings (from CISMeF team)
- CCD [LOINC Challenge]
- Celiac infantilism (disorder) [SNOMED CT concept]
- Charge coupled device (physical object) [SNOMED CT concept]
- Cleidocranial dysplasia 1 [OMIM Phenotype]
- RUNX2 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Central Core Disease [NCIt concept]
- Central core disease [ORDO Disease]
- 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]
- central core disease [DO Concept]
- central core disease [SNOMED Notion]
- central core disease [Disease (Nov.)]
- myopathy, central core [MeSH Descriptor]
- myopathy, central core [MeSH concept]
ICD-10 Mapping
- Congenital myopathies [ICD-10 Sub-category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Central Core Disease [NCIt concept]
- 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]
- Shy-Magee syndrome [MedDRA LLT]
- 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]
Validated automatic mappings to NTBT
- Congenital myopathies [ICD-10 Sub-category]
- Hereditary disorder of musculoskeletal system (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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