syndroom van gehoorgangatresie, congenitale afwijkingen en verstandelijke beperking (aandoening) | | syndroom van gehoorgangatresie, congenitale afwijkingen en verstandelijke beperking | | syndroom van gehoorgangatresie, aangeboren afwijkingen en verstandelijke handicap syndroom van Cooper-Jabs syndroom van gehoorgangatresie, congenitale misvormingen en mentale retardatie
| | Cooper Jabs syndrome | | Aural atresia with multiple congenital anomalies and intellectual disability syndrome
| | A multiple malformation syndrome with characteristics of atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot and intellectual deficit. It has been described only once, in two sisters. |
| Id | 720748007 | 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 | 1488 |
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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