Chondrodystrophic myotonia

ICD-11 code : 8C71.1;

Preferred Label : Chondrodystrophic myotonia;

ICD-11 definition : Chondrodystrophic myotonia (Schwartz-Jampel syndrome) is a congenital myotonic syndrome characterised by myotonia that results in a characteristic facies with blepharophimosis and a puckered facial appearance, and osteoarticular abnormalities leading to limited joint mobility.;

ICD-11 synonym : Schwartz-Jampel syndrome;

Details

Origin ID

1725668060;

Automatic exact mappings (from CISMeF team)
- Myotonic chondrodystrophy [MeSH concept]
- Myotonic chondrodystrophy [MedDRA LLT]
- Schwartz Jampel syndrome [MedDRA Preferred Term]
- Schwartz-Jampel Syndrome [NCIt concept]
- Schwartz-Jampel dwarfism [PASCAL descriptor]
- Schwartz-Jampel syndrome [ORDO Disease]
- Schwartz-Jampel syndrome (disorder) [SNOMED CT concept]
- Schwartz-jampel syndrome, type 1 [OMIM Phenotype]
- osteochondrodysplasias [MeSH Descriptor]
- schwartz-jampel syndrome [SNOMED Notion]
ICD-10 Mapping
- Myotonic disorders [ICD-10 Sub-category]

Keyword's position in hierarchy(ies) :

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