syndroom van sensorineurale doofheid en dilaterende cardiomyopathie (aandoening) | | syndroom van sensorineurale doofheid en dilaterende cardiomyopathie | | syndroom van neurosensorisch gehoorverlies en gedilateerde cardiomyopathie syndroom van perceptief gehoorverlies en gedilateerde cardiomyopathie
| | Sensorineural deafness with dilated cardiomyopathy syndrome | | An extremely rare autosomal dominant syndrome described in two families to date and with characteristics of moderate to severe sensorineural hearing loss manifesting during childhood and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure. Caused by mutation in the EYA4 gene. |
| Id | 723993005 | 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 | I42.0 | Term | Cardiomyopathie met hartdilatatie (niet-obstructief) |
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SNOMED CT to Orphanet simple map | 217622 |
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 | I42.0 | Rule | TRUE | Advice | ALWAYS I42.0 | 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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