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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
Cathepsin D deficient neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D
Neuronal ceroid lipofuscinosis due to cathepsin D deficiency
Neuronal ceroid lipofuscinosis 10
A severe form of neuronal ceroid lipofuscinosis with onset at birth and characteristics of primary microcephaly, neonatal epilepsy and death in early infancy. It is a rare form of neuronal ceroid lipofuscinosis with only around 10 cases reported in the literature so far. Patients present with postnatal respiratory insufficiency, seizures immediately after birth and a lower than normal head circumference. Transmitted in an autosomal recessive manner and is caused by mutations in the CTSD gene (designated CLN10; 11p15.5) encoding the lysosomal enzyme cathepsin D.
Id720830009
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van systema nervosum
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetE75.4
RuleTRUE
AdviceALWAYS E75.4
CorrelationSNOMED CT source code to target map code correlation not specified