| syndroom van choanale atresie, gehoorverlies, hartdefect en craniofaciale dysmorfie (aandoening) | | syndroom van choanale atresie, gehoorverlies, hartdefect en craniofaciale dysmorfie | | syndroom van Burn-McKeown
| | Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome | | Burn McKeown syndrome
| | A rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. Affected individuals have normal intelligence. |
| | Id | 720640005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 1200 |
| 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 |
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