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autosomaal dominante neovasculaire inflammatoire vitreoretinopathie (aandoening)
autosomaal dominante neovasculaire inflammatoire vitreoretinopathie
Autosomal dominant neovascular inflammatory vitreoretinopathy
A rare genetic vitreoretinal degeneration characterized by a slowly progressive vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degeneration, vitreous hemorrhage, cystoid macular edema, retinal neovascularization, intraocular fibrosis, secondary glaucoma, and retinal detachment leading to phthisis and complete blindness. Caused by heterozygous mutation in the CAPN5 gene on chromosome 11q14.
Id770791000
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van corpus vitreum
Clinical courseprogressief
Associated morphologyatrophia
Finding sitestructuur van perifere retina
referentieset met complexe 'mapping' naar ICD-10
TargetH35.2
RuleTRUE
AdviceALWAYS H35.2
CorrelationSNOMED CT source code to target map code correlation not specified