| syndroom van doofheid, onychodystrofie, osteodystrofie en verstandelijke beperking (aandoening) | | syndroom van doofheid, onychodystrofie, osteodystrofie en verstandelijke beperking | | syndroom van doofheid, onychodystrofie, osteodystrofie en verstandelijke handicap
DOOR-syndroom
syndroom van doofheid, onychodystrofie, osteodystrofie en mentale retardatie
syndroom van autosomaal recessieve doofheid en dystrophia unguium
| | DOORS syndrome | | DOOR syndrome
Autosomal recessive deafness onychodystrophy syndrome
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome
| | A multiple congenital anomalies, intellectual disability syndrome with characteristics of sensorineural hearing loss, onychodystrophy, osteodystrophy, mild to profound intellectual disability and seizures. About 50 cases have been reported to date. Caused by mutations in the TBC1D24 gene (16p13.3) encoding a protein involved in the regulation of membrane trafficking. Inherited autosomal recessively. |
| | Id | 719800009 | | 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 | 79500 |
| 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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