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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
Syndrome with characteristics of moderate to profound hearing loss in both ears and severe nearsightedness (high myopia). The hearing loss may be described as sensorineural or it may be caused by auditory neuropathy. The hearing loss is either present at birth or begins in infancy, before the child learns to speak. This syndrome is caused by mutations in the SLITRK6 gene. The protein produced from this gene is found primarily in the inner ear and the eye. SLITRK6 gene mutations result in an abnormally short SLITRK6 protein that is not anchored properly to the cell membrane meaning the protein is unable to function normally. Impaired SLITRK6 protein function leads to abnormal nerve development in the inner ear and improperly controlled eyeball growth.
Id720506002
StatusPrimitive
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
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