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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
Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by 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.
Id778021002
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van retina
Associated morphologyafwijkend klein
Finding sitegehele bulbus oculi
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydiastase
Finding sitestructuur van fovea centralis
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ15.8
TermOverige gespecificeerde congenitale misvormingen van oog
SNOMED CT to Orphanet simple map251279
SNOMED CT to ICD-10 extended map
TargetQ15.8
RuleTRUE
AdviceALWAYS Q15.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified