| syndroom van doofheid met malformatie van oor en faciale paralyse (aandoening) | | syndroom van doofheid met malformatie van oor en faciale paralyse | | Sellars Beighton syndrome | | Deafness with malformation of ear and facial palsy syndrome
| | Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three siblings and their mother. Inheritance is autosomal dominant. |
| | Id | 716243005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.0 | | Term | Congenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan |
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| SNOMED CT to Orphanet simple map | 3232 |
| 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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