| oligocone trichromasie (aandoening) | | oligocone trichromasie | | oligocone trichromatopsie
| | Oligocone trichromacy | | Oligocone syndrome
| | A rare non-progressive form of cone photoreceptor dysfunction characterized by reduced visual acuity, normal retinal appearance and absent or reduce cone responses on electroretinography but normal color vision. The syndrome is very rare with only 14 cases reported in the literature so far. The causative gene has not been identified. The reason for the presence of normal color vision despite the reduced visual acuity and electrophysiological evidence of severe cone dysfunction is uncertain. It has been proposed that patients may have reduced numbers of normal functioning cones with preservation of the three cone types in normal proportions thereby enabling normal color vision. |
| | Id | 722066001 | | 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 | 75378 |
| 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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