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laat-infantiele neuronale ceroïdlipofuscinose (aandoening)
laat-infantiele neuronale ceroïdlipofuscinose
ziekte van Jansky-Bielschowsky
Jansky-Bielschowsky-syndroom
laat-infantiele NCL
ziekte van Jansky-Bielschowsky
Deze stofwisselingsaandoening is een vorm van neuronale ceroïde lipofuscinosen, die begint tussen het tweede en vierde levensjaar.
Late-infantile neuronal ceroid lipofuscinosis
Amaurotic idiocy late infantile type
Late infantile neuronal ceroid lipofuscinosis
Amaurotic idiocy early juvenile type
Dollinger-Bielschowsky type neuronal ceroid lipofuscinosis
Amaurotic idiocy, late infantile type
Bielschowsky-Jansky disease
Bielschowsky-Jansky type neuronal ceroid lipofuscinosis
Amaurotic idiocy, early juvenile type
Dollinger-Bielschowsky syndrome
Id14637005
StatusPrimitive
Occurrencecongenitaal
Associated morphologydegeneratieve afwijking
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE75.4
TermNeuronale ceroïde lipofuscinose
SNOMED CT to Orphanet simple map168491
SNOMED CT to ICD-10 extended map
TargetE75.4
RuleTRUE
AdviceALWAYS E75.4
CorrelationSNOMED CT source code to target map code correlation not specified
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