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progressieve myoklonische epilepsie type 8 (aandoening)
progressieve myoklonische epilepsie type 8
progressieve myoclonusepilepsie type 8
PME type 8
Progressive myoclonic epilepsy type 8
Progressive myoclonic epilepsy due to ceramide synthase 1 deficiency
PME type 8 - progressive myoclonic epilepsy type 8
Progressive myoclonus epilepsy type 8
Progressive myoclonic epilepsy due to CERS1 (ceramide synthase 1) deficiency
A rare genetic neurological disorder characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy. There is evidence the disease may be caused by homozygous mutation in the CERS1 gene on chromosome 19p12.
Id783139000
StatusPrimitive
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
TargetG40.3
RuleTRUE
AdviceALWAYS G40.3
CorrelationSNOMED CT source code to target map code correlation not specified