| syndroom van epifysaire en vertebrale dysplasie en afwijking van oor en neus plus bijkomende bevindingen (aandoening) | | syndroom van epifysaire en vertebrale dysplasie en afwijking van oor en neus plus bijkomende bevindingen | | EVEN-plus-syndroom
| | EVEN-plus syndrome | | Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome
EVEN (epiphyseal, vertebral, ear dysplasia, nose) plus associated findings syndrome
| | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum and cardiac, gastrointestinal and/or urogenital malformations among others. Psychomotor development may be delayed. |
| | Id | 1260203008 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 496751 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.0 | | Rule | TRUE | | Advice | ALWAYS Q87.0 | 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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