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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.
Id723993005
StatusPrimitive
Interpretsgehoorfunctie
Associated morphologydilatatie
Finding sitestructuur van myocardium
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetH90.5
TermGehoorverlies door perceptiestoornis, niet gespecificeerd
TargetI42.0
TermCardiomyopathie met hartdilatatie (niet-obstructief)
SNOMED CT to Orphanet simple map217622
SNOMED CT to ICD-10 extended map
TargetH90.5
RuleTRUE
AdviceALWAYS H90.5
CorrelationSNOMED CT source code to target map code correlation not specified
TargetI42.0
RuleTRUE
AdviceALWAYS I42.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified