||||
vroeg optredende progressieve myoklonische epilepsie type 2 (aandoening)
vroeg optredende progressieve myoklonische epilepsie type 2
vroeg optredende ziekte van Lafora
vroeg optredende progressieve myoclonusepilepsie type 2
PME type 2
Early-onset Lafora body disease
An extremely rare inherited form of progressive myoclonic epilepsy with characteristics of progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades. There is evidence the disease is caused by homozygous mutation in the PRDM8 gene on chromosome 4q21.
Id733082001
StatusPrimitive
Associated morphologyLafora-lichaampje
Finding sitestructuur van cerebrum
Occurrencekinderleeftijd
referentieset met complexe 'mapping' naar ICD-10
TargetG40.3
RuleTRUE
AdviceALWAYS G40.3
CorrelationSNOMED CT source code to target map code correlation not specified