| syndroom van ectopia lentis, choroidoretinale dystrofie en myopie (aandoening) | | syndroom van ectopia lentis, choroidoretinale dystrofie en myopie | | syndroom van ectopia lentis, chorioretinale dystrofie en myopie
| | Ectopia lentis, chorioretinal dystrophy, myopia syndrome | | This syndrome is characterized by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive. |
| | Id | 722437006 | | 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 | 1884 |
| 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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