autosomaal recessieve hereditaire aandoening
congenitale neuropathie
neuronale ceroïdlipofuscinose
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neuronale ceroïdlipofuscinose door cathepsine D-deficiëntie (aandoening)
neuronale ceroïdlipofuscinose door cathepsine D-deficiëntie
neuronale ceroïdlipofuscinose door deficiëntie van cathepsine D
Congenital neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis due to cathepsin D deficiency
Neuronal ceroid lipofuscinosis 10
Cathepsin D deficient neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D
Id720830009
StatusPrimitive
Due tocathepsine D-deficiëntie
Associated morphologydegeneratieve afwijking
Finding sitestructuur van systema nervosum
Occurrencecongenitaal
SNOMED CT to Orphanet simple map168486
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