autosomaal dominante hereditaire aandoening
neuronale ceroïdlipofuscinose
progressieve myoklonische epilepsie
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Neuronal ceroid lipofuscinosis type 4 (disorder)
Neuronal ceroid lipofuscinosis type 4
NCL4 - neuronal ceroid lipofuscinosis type 4
CLN4 disease
A rare neuronal ceroid lipofuscinosis characterized by adult-onset (20-early 30 years) progressive generalized tonic-clonic and myoclonic seizures, speech deterioration, dementia and ataxia. Some patients may also exhibit Parkinsonism. Visual impairment is usually not present. This is the only ceroid lipofuscinosis form inherited dominantly.
Id1373768001
StatusPrimitive
Clinical courseprogressief
Occurrencecongenitaal
Associated morphologydegeneratieve afwijking
Finding sitestructuur van encephalon
Occurrencevolwassenheid
SNOMED CT to ICD-10 extended map
TargetE75.4
RuleTRUE
AdviceALWAYS E75.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified