| progressieve myoklonische epilepsie type 7 (aandoening) | | progressieve myoklonische epilepsie type 7 | | Progressive myoclonic epilepsy type 7 | | Progressive myoclonus epilepsy type 7
Progressive myoclonic epilepsy due to KV3.1 deficiency
EPM7 - epilepsy progressive myoclonic 7
| | A rare genetic neurological disorder with characteristics of childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures and occasionally ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated. |
| | Id | 1208939001 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 435438 |
| 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 |
|
|
