| 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
| | A rare genetic non-syndromic developmental defect of the eye disorder with 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. Caused by homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23. |
| | Id | 778021002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q15.8 | | Term | Overige gespecificeerde congenitale misvormingen van oog |
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| SNOMED CT to Orphanet simple map | 251279 |
| SNOMED CT to ICD-10 extended map | | Target | Q15.8 | | Rule | TRUE | | Advice | ALWAYS Q15.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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