Myotonic dystrophy type 2

Preferred Label : Myotonic dystrophy type 2;

ICD-11 definition : Proximal myotonic myopathy is a multisystemic disease characterised by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract.;

ICD-11 synonym : proximal myotonic myopathy; PROMM - [proximal myotonic myopathy];

ICD-11 acronym : PROMM;

Détails

Origin ID

1005849639;

Automatic exact mappings (from CISMeF team)
- CNBP wt Allele [NCIt concept]
- Dystrophia Myotonica 2 [NCIt concept]
- Myotonic dystrophy 2 [OMIM Phenotype]
- Proximal myotonic myopathy [ORDO Disease]
- Proximal myotonic myopathy [PASCAL descriptor]
- Proximal myotonic myopathy (disorder) [SNOMED CT concept]
- myotonic disorders [MeSH Descriptor]
- myotonic dystrophy [MeSH Descriptor]
- myotonic dystrophy type 2 [DO Concept]

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