autosomaal recessieve hereditaire aandoening
infantiele neuronale ceroïdlipofuscinose
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neuronale ceroïdlipofuscinose type 6A (aandoening)
neuronale ceroïdlipofuscinose type 6A
Neuronal ceroid lipofuscinosis type 6A
vLINCL - variant late infantile neuronal ceroid lipofuscinosis
CLN6-related neuronal ceroid lipofuscinosis type 6A
CLN6 transmembrane ER protein-related neuronal ceroid lipofuscinosis type 6A
An autosomal recessive neurodegenerative disorder with a variable age at onset in the first years of life after normal early development followed by decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration. Caused by homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23.
Id1296784002
StatusPrimitive
Occurrencecongenitaal
Associated morphologydegeneratieve afwijking
Finding sitestructuur van systema nervosum
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