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progressieve myoklonische epilepsie type 6 (aandoening)
progressieve myoklonische epilepsie type 6
PME type 6
progressieve myoclonusepilepsie type 6
Progressive myoclonic epilepsy type 6
PME type 6 - progressive myoclonic epilepsy type 6
GOSR2-related progressive myoclonus ataxia
Progressive myoclonus epilepsy type 6
GOSR2 (golgi SNAP receptor complex member 2) related progressive myoclonus ataxia
North Sea progressive myoclonus epilepsy
A rare genetic neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels and relative preservation of cognitive function until late in the disease course. There is evidence the disease is caused by homozygous mutation in the GOSR2 gene on chromosome 17q21.
Id783062001
StatusPrimitive
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
TargetG40.3
RuleTRUE
AdviceALWAYS G40.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified