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retinale dystrofie van Bothnia (aandoening)
retinale dystrofie van Bothnia
Västerbottendystrofie
Bothnia retinal dystrophy
Vasterbotten dystrophy
Caused by mutation in the gene encoding retinaldehyde-binding protein-1. A high frequency of a distinctive form of retinal dystrophy was found to occur in northern Sweden. Typical manifestations are night blindness from early childhood and in young adults retinitis punctata albescens was observed followed by macular degeneration.
Id715647007
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van retina
referentieset met complexe 'mapping' naar ICD-10
TargetH35.5
RuleTRUE
AdviceALWAYS H35.5
CorrelationSNOMED CT source code to target map code correlation not specified