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vroeg optredende progressieve myoklonische epilepsie type 2 (aandoening)
vroeg optredende progressieve myoklonische epilepsie type 2
vroeg optredende progressieve myoclonusepilepsie type 2
PME type 2
vroeg optredende ziekte van Lafora
Early-onset Lafora body disease
A rare genetic progressive myoclonic epilepsy characterized by childhood onset of progressive dysarthria, myoclonus, ataxia, seizures, and cognitive decline. The disease takes a protracted course with patients surviving into adulthood, developing signs and symptoms like psychosis with outbursts of prolonged agitation and screaming, spasticity and hyperreflexia, confusion, mutism, and incontinence. There are no visual disturbances. Muscle biopsy shows numerous periodic acid-Schiff-positive inclusions, so-called Lafora bodies.
Id733082001
StatusPrimitive
Associated morphologyLafora-lichaampje
Finding sitestructuur van cerebrum
Occurrencekinderleeftijd
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 map324290
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