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retinadystrofie bij biallelische retinapigmentepitheelspecifiek 65-kDa-proteïne-mutatie (aandoening)
retinadystrofie bij biallelische retinapigmentepitheelspecifiek 65-kDa-proteïne-mutatie
retinadystrofie bij bi-allelische RPE65-mutatie
retinadystrofie bij biallelische RPE65-mutatie
Biallelic RPE65 mutation associated retinal dystrophy
Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy
Biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation). The RPE65 gene provides instructions for making an enzyme that is essential for normal vision and mutations in this gene result in reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision. Almost all patients eventually progress to complete blindness.
Id764969006
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van retina
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetH35.5
RuleTRUE
AdviceALWAYS H35.5
CorrelationSNOMED CT source code to target map code correlation not specified