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syndroom van perceptief gehoorverlies en hoge myopie (aandoening)
syndroom van perceptief gehoorverlies en hoge myopie
syndroom van doofheid en bijziendheid
Deafness and myopia syndrome
High myopia and sensorineural deafness
High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.
Id720506002
StatusPrimitive
Finding sitestructuur van oor
Interpretsgehoorfunctie
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetH90.5
TermGehoorverlies door perceptiestoornis, niet gespecificeerd
TargetH52.1
TermMyopie
SNOMED CT to Orphanet simple map363396
SNOMED CT to ICD-10 extended map
TargetH90.5
RuleTRUE
AdviceALWAYS H90.5
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH52.1
RuleTRUE
AdviceALWAYS H52.1
CorrelationSNOMED CT source code to target map code correlation not specified