| myotonia congenita (aandoening) | | myotonia congenita | | myotonia congenita | | Myotonia congenita is een aangeboren spierstijfheid. | | 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. |
| | Id | 726051002 | | Status | Primitive |
| PALGA thesaurus simple reference set for pathology |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G71.1 | | Term | Myotone aandoeningen |
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| SNOMED CT to Orphanet simple map | 614 |
| SNOMED CT to ICD-10 extended map | | 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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