| syndroom van blefarofimose, epicanthus inversus en ptosis (aandoening) | | syndroom van blefarofimose, epicanthus inversus en ptosis | | Blepharophimosis epicanthus inversus ptosis syndrome | | BPES - blepharophimosis epicanthus inversus ptosis syndrome
| | A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2). |
| | Id | 715391004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 126 |
| SNOMED CT to ICD-10 extended map | | Target | Q10.3 | | Rule | TRUE | | Advice | ALWAYS Q10.3 | 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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