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. |
| Id | 719431007 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | H35.5 | Term | Hereditaire retinadystrofie |
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SNOMED CT to Orphanet simple map | 67042 |
SNOMED CT to ICD-10 extended map | Target | H35.5 | Rule | TRUE | Advice | ALWAYS H35.5 | Correlation | SNOMED CT source code to target map code correlation not specified |
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