| syndroom van microftalmie, retinitis pigmentosa, foveoschisis en drusenpapil (aandoening) | | syndroom van microftalmie, retinitis pigmentosa, foveoschisis en drusenpapil | | Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome | | Nanophthalmos, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
| | Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity, and, on occasion, acute-angle glaucoma. |
| | Id | 778021002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 251279 |
| SNOMED CT to ICD-10 extended map | | Target | Q15.8 | | Rule | TRUE | | Advice | ALWAYS Q15.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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