Myotonia congenita (disorder) | | Myotonia congenita | | Congenital myotonia
| | A disorder of the skeletal muscles with childhood onset of myotonia. The myotonia most often occurs in the legs and can interfere with movement. There are two major forms of this disease Thomsen disease and Becker disease. These conditions are distinguished by the severity of their symptoms and their patterns of inheritance. The disease is caused by mutations in the CLCN1 gene. Mutations in this gene alter the usual structure or function of chloride channels. This disruption in chloride ion flow triggers prolonged muscle contractions. | | myotonia congenita | | myotonia congenita | | Myotonia congenita is een aangeboren spierstijfheid. |
| Id | 726051002 | Status | Primitive |
PALGA thesaurus simple reference set for pathology |
DHD Diagnosis thesaurus reference set |
ICD-10 complex map reference set | Target | G71.1 | Rule | TRUE | Advice | ALWAYS G71.1 | POSSIBLE REQUIREMENT FOR AN EXTERNAL CAUSE CODE | Correlation | SNOMED CT source code to target map code correlation not specified |
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