| 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 | | Syndrome is characterized by the combination of sensorineural hearing loss, early graying of scalp hair and adult onset essential tremor. It has been described in three unrelated individuals. Additional family members in each family showed varied expression of these three signs. The syndrome appears to be autosomal dominant with variable penetrance but the causative mutation has not yet been identified. |
| | 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 | H90.5 | | Rule | TRUE | | Advice | ALWAYS H90.5 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | L67.1 | | Rule | TRUE | | Advice | ALWAYS L67.1 | | 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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