autosomaal dominante laat optredende retinadegeneratie (aandoening)
autosomaal dominante laat optredende retinadegeneratie
Autosomal dominant late-onset retinal degeneration
Late-onset retinal degeneration
An inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.
Associated morphologydystrofie
Finding sitestructuur van retina
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermHereditaire retinadystrofie
SNOMED CT to Orphanet simple map67042
SNOMED CT to ICD-10 extended map
AdviceALWAYS H35.5
CorrelationSNOMED CT source code to target map code correlation not specified