Myotonia congenita, dominant

Preferred Label : Myotonia congenita, dominant;

ICD-11 definition : Autosomal dominant myotonia congenita (Thomsen disease) is a non-dystrophic muscle disorder caused by mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1). It is clinically characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction.;

ICD-11 synonym : Thomsen disease, dominant;

ICD-11 inclusion : Thomsen myotonia congenita; Thomsen disease; dominant myotonia congenita; Chloride channel disorders, autosomal dominant inheritance; congenital myotonia, autosomal dominant form; myotonia congenita, autosomal dominant form;

Details

Origin ID

370025964;

CISMeF manual mappings
- Congenital myotonia, autosomal dominant form (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Myotonia congenita, autosomal dominant [OMIM Phenotype]
- congenital myotonia, autosomal dominant form [SNOMED Notion]
Validated automatic mappings to NTBT
- Batten-turner congenital myopathy [OMIM Phenotype]
- Congenital myotonia [ORDO Disease]
- MYOTONIA CONGENITA [WHO-ART Preferred Term]
- Myotonia Congenita [NCIt concept]
- Myotonia congenita [MedDRA Preferred Term]
- Thomsen and Becker disease [ORDO Disease]
- congenital myopathy [DO Concept]
- congenital myotonia, nos [SNOMED Notion]
- myotonia congenita [Disease (Nov.)]
- myotonia congenita [MeSH concept]
- myotonia congenita [DO Concept]
- myotonia congenita [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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