| 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. |
| | Id | 783139000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G40.3 | | Term | Gegeneraliseerde idiopathische epilepsie en epileptische syndromen |
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| SNOMED CT to Orphanet simple map | 424027 |
| SNOMED CT to ICD-10 extended map | | Target | G40.3 | | Rule | TRUE | | Advice | ALWAYS G40.3 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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