| syndroom van actiemyoclonus en nierfalen (aandoening) | | syndroom van actiemyoclonus en nierfalen | | syndroom van actiemyoclonus en nierinsufficiëntie
progressieve myoklonische epilepsie type 4
syndroom van actiemyoclonus en nefropathie
| | Action myoclonus renal failure syndrome | | AMRF - action myoclonus renal failure
Progressive myoclonic epilepsy type 4
Myoclonus nephropathy syndrome
| | Syndrome with characteristics of episodes of myoclonus. Renal disease is an inconsistent feature occurring in some but not all cases. Myoclonic jerks typically occur in the torso, upper and lower limbs and face. Some affected individuals develop seizures, peripheral neuropathy or sensorineural hearing loss. Where renal problems occur, an early sign is proteinuria. Age of onset and the clinical course may vary even among members of the same family. The syndrome is caused by mutations in the SCARB2 gene leading to production of an altered LIMP-2 protein that cannot get to the lysosome. As a result, the movement of beta-glucocerebrosidase to lysosomes is impaired. Inherited in an autosomal recessive pattern. |
| | Id | 764453009 | | 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 | 163696 |
| 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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