| X-gebonden syndroom van atresie van uitwendige gehoorgang, wijde inwendige gehoorgang en faciale dysmorfie (aandoening) | | X-gebonden syndroom van atresie van uitwendige gehoorgang, wijde inwendige gehoorgang en faciale dysmorfie | | X-gebonden syndroom van atresie van meatus acusticus externus, wijde meatus acusticus internus en faciale dysmorfie
| | X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome | | A rare syndromic genetic deafness with characteristics of congenital hearing loss, atresia or stenosis of the external auditory canal, dilated internal auditory canal, malformation of the inner ear (incomplete separation of the cochlea basal turn from the fundus of the internal auditory canal), in combination with abnormal auricular shape and facial dysmorphism (including thick eyebrows, ptosis, broad nasal root, and telecanthus). Intelligence is normal and developmental delay is absent. |
| | Id | 1167372000 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 500188 |
| SNOMED CT to ICD-10 extended map | | Target | H91.8 | | Rule | TRUE | | Advice | ALWAYS H91.8 | 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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