occulte maculadystrofie (aandoening) | | occulte maculadystrofie | | Occult macular dystrophy | | OCMD - occult macular dystrophy OMD - occult macular dystrophy
| | A rare genetic retinal dystrophy disease with characteristics of bilateral progressive decline of visual acuity due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms. There is evidence the disease is caused by heterozygous mutation in the RP1L1 gene on chromosome 8p23. |
| Id | 770667002 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | H35.5 | Term | Hereditaire retinadystrofie |
|
SNOMED CT to Orphanet simple map | 247834 |
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 |
|
|