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syndroom van microftalmie, retinitis pigmentosa, foveoschisis en drusenpapil (aandoening)
syndroom van microftalmie, retinitis pigmentosa, foveoschisis en drusenpapil
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
Nanophthalmos, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
A rare genetic non-syndromic developmental defect of the eye disorder with the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity and on occasion acute-angle glaucoma. Caused by homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23.
Id778021002
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van retina
Associated morphologycongenitale kleinheid
Finding sitegeheel oog
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydiastase
Finding sitestructuur van fovea centralis
referentieset met complexe 'mapping' naar ICD-10
TargetQ15.8
RuleTRUE
AdviceALWAYS Q15.8
CorrelationSNOMED CT source code to target map code correlation not specified