| progressieve myoklonische epilepsie type 6 (aandoening) | | progressieve myoklonische epilepsie type 6 | | PME type 6
progressieve myoclonusepilepsie type 6
| | Progressive myoclonic epilepsy type 6 | | GOSR2 (golgi SNAP receptor complex member 2) related progressive myoclonus ataxia
North Sea progressive myoclonus epilepsy
GOSR2-related progressive myoclonus ataxia
Progressive myoclonus epilepsy type 6
PME (progressive myoclonic epilepsy) type 6
| | 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. |
| | Id | 783062001 | | 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 | 280620 |
| SNOMED CT to ICD-10 extended map | | Target | G40.3 | | Rule | TRUE | | Advice | ALWAYS G40.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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