syndroom van conductief gehoorverlies en afwijking van uitwendig oor (aandoening) | | syndroom van conductief gehoorverlies en afwijking van uitwendig oor | | syndroom van geleidingsgehoorverlies en malformatie van auris externa syndroom van geleidingsgehoorverlies en afwijking van uitwendig oor syndroom van Mengel-Konigsmark
| | Conductive deafness, malformed external ear syndrome | | Conductive hearing loss, malformation of external ear syndrome Mengel Konigsmark syndrome
| | A very rare syndromic genetic deafness with characteristics of mild to moderate conductive hearing loss, dysmorphic pinnae and lip pits or dimples. The pinnae are usually small, cup-shaped with helix folded forward, and hearing loss is associated with malformed ossicles and displacement of the external auditory canal. |
| Id | 783742004 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | Q16.3 | Term | Congenitale misvorming van gehoorbeentjes |
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SNOMED CT to Orphanet simple map | 3216 |
SNOMED CT to ICD-10 extended map | Target | Q16.3 | Rule | TRUE | Advice | ALWAYS Q16.3 | 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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