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infantiele cerebellaire-retinale degeneratie (aandoening)
infantiele cerebellaire-retinale degeneratie
mitochondriale aconitasedeficiƫntie
infantiele cerebellaire degeneratie en retinadegeneratie
Infantile cerebellar and retinal degeneration
A rare neurodegenerative disorder with characteristics of early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the aconitase-2 gene (ACO2) on chromosome 22q13.
Id782822006
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van retina
Occurrencezuigelingenperiode
Associated morphologyprimaire atrofie
Finding sitestructuur van nervus opticus
Occurrencezuigelingenperiode
referentieset met complexe 'mapping' naar ICD-10
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8
CorrelationSNOMED CT source code to target map code correlation not specified