| 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 rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. |
| | 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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