| X-gebonden kegeldisfunctiesyndroom met myopie (aandoening) | | X-gebonden kegeldisfunctiesyndroom met myopie | | oogziekte van Bornholm
X-gebonden kegeldisfunctiesyndroom met bijziendheid
| | X-linked cone dysfunction syndrome with myopia | | Bornholm eye disease
| | X-linked cone dysfunction syndrome with myopia is characterized by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28. |
| | Id | 718718009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | H53.8 | | Term | Overige gespecificeerde visuele stoornissen |
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| SNOMED CT to Orphanet simple map | 90001 |
| SNOMED CT to ICD-10 extended map | | Target | H53.8 | | Rule | TRUE | | Advice | ALWAYS H53.8 | 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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