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syndroom van congenitale hereditaire endotheeldystrofie en perceptief gehoorverlies (aandoening)
syndroom van congenitale hereditaire endotheeldystrofie en perceptief gehoorverlies
corneadystrofie met progressieve doofheid
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome
Corneal dystrophy with progressive deafness
Harboyan syndrome
Corneal dystrophy and perceptive deafness syndrome
A degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive postlingual sensorineural hearing loss. The ocular manifestations include diffuse bilateral corneal edema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. Caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13p12.
Id720749004
StatusPrimitive
Interpretsgehoorfunctie
Associated morphologydystrofie
Finding sitestructuur van endotheel van cornea
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetH18.5
RuleTRUE
AdviceALWAYS H18.5
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH90.5
RuleTRUE
AdviceALWAYS H90.5
CorrelationSNOMED CT source code to target map code correlation not specified