| retinale dystrofie van Bothnia (aandoening) | | retinale dystrofie van Bothnia | | Västerbottendystrofie
| | Bothnia retinal dystrophy | | Vasterbotten dystrophy
| | Caused by mutation in the gene encoding retinaldehyde-binding protein-1. A high frequency of a distinctive form of retinal dystrophy was found to occur in northern Sweden. Typical manifestations are night blindness from early childhood and in young adults retinitis punctata albescens was observed followed by macular degeneration. |
| | Id | 715647007 | | 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 | 85128 |
| 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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