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syndroom van actiemyoclonus en nierfalen (aandoening)
syndroom van actiemyoclonus en nierfalen
syndroom van actiemyoclonus en nierinsufficiƫntie
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
A rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.
Id764453009
StatusPrimitive
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 map163696
SNOMED CT to ICD-10 extended map
TargetG40.3
RuleTRUE
AdviceALWAYS G40.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified