| overlapsyndroom van blefarofimose, verstandelijke beperking en genitopatellasyndroom (aandoening) | | overlapsyndroom van blefarofimose, verstandelijke beperking en genitopatellasyndroom | | overlapsyndroom van blefarofimose en mentale retardatie type SSBYS
overlapsyndroom van blefarofimose, verstandelijke handicap en genitopatellasyndroom
| | Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome | | A rare developmental defect during embryogenesis with characteristics of the presence of major features of both blepharophimosis-intellectual disability syndrome and genitopatellar syndrome. These major features may include blepharophimosis, ptosis, hypomimia, skeletal features like patellar a/hypoplasia and renal and/or genital malformations. |
| | Id | 1304113005 | | Status | Primitive |
| SNOMED CT to Orphanet simple map |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
