| syndroom van perceptief gehoorverlies, premature vergrijzing en essentiële tremor (aandoening) | | syndroom van perceptief gehoorverlies, premature vergrijzing en essentiële tremor | | Sensorineural hearing loss, early graying, essential tremor syndrome | | A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome. |
| | Id | 723721007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | H90.5 | | Term | Gehoorverlies door perceptiestoornis, niet gespecificeerd |
| Target | L67.1 | | Term | Variaties in haarkleur |
| Target | G25.0 | | Term | Essentiële tremor |
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| SNOMED CT to Orphanet simple map | 66633 |
| SNOMED CT to ICD-10 extended map | | Target | H90.3 | | Rule | TRUE | | Advice | ALWAYS H90.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | G25.0 | | Rule | TRUE | | Advice | ALWAYS G25.0 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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