| syndroom van conductief gehoorverlies, ptosis en skeletale anomalieën (aandoening) | | syndroom van conductief gehoorverlies, ptosis en skeletale anomalieën | | syndroom van conductieve doofheid, ptose en skeletafwijkingen
syndroom van Jackson-Barr
syndroom van geleidingsgehoorverlies, ptosis en skeletale anomalieën
| | Conductive deafness, ptosis, skeletal anomalies syndrome | | Jackson Barr syndrome
| | A rare genetic ectodermal dysplasia syndrome with characteristics of conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978. |
| | Id | 763213001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 3236 |
| 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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