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progressieve myoklonische epilepsie type 8 (aandoening)
progressieve myoklonische epilepsie type 8
PME type 8
progressieve myoclonusepilepsie type 8
Progressive myoclonic epilepsy type 8
Progressive myoclonus epilepsy type 8
Progressive myoclonic epilepsy due to CERS1 (ceramide synthase 1) deficiency
PME (progressive myoclonic epilepsy) type 8
Progressive myoclonic epilepsy due to 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
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG40.3
TermGegeneraliseerde idiopathische epilepsie en epileptische syndromen
SNOMED CT to Orphanet simple map424027
SNOMED CT to ICD-10 extended map
TargetG40.3
RuleTRUE
AdviceALWAYS G40.3
CorrelationSNOMED CT source code to target map code correlation not specified