| gepigmenteerde paraveneuze retinochoroïdale atrofie (aandoening) | | gepigmenteerde paraveneuze retinochoroïdale atrofie | | PPRCA
| | Pigmented paravenous retinochoroidal atrophy | | PPRCA - pigmented paravenous retinochoroidal atrophy
Pigmented paravenous chorioretinal atrophy
| | A rare commonly bilateral and symmetric retinal disease with characteristics of non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of bone-corpuscle pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision. There is evidence this disease is caused by heterozygous mutation in the CRB1 gene on chromosome 1q31. |
| | Id | 723450004 | | 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 | 251295 |
| 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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