||
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.
Id726051002
StatusPrimitive
referentieset voor pathologie
DHD Diagnosethesaurus-referentieset
DHD Verrichtingenthesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetG71.1
RuleTRUE
AdviceALWAYS G71.1 | POSSIBLE REQUIREMENT FOR AN EXTERNAL CAUSE CODE
CorrelationSNOMED CT source code to target map code correlation not specified
|