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X-gebonden endotheliale corneadystrofie (aandoening)
X-gebonden endotheliale corneadystrofie
X-gebonden cornea-endotheeldystrofie
X-gebonden endotheeldystrofie van hoornvlies
X-linked endothelial corneal dystrophy
X-linked endothelial dystrophy of cornea
A rare subtype of posterior corneal dystrophy with characteristics of congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. Prevalence of this rare corneal dystrophy is unknown. Males are affected more severely than females. The condition is progressive in males and non-progressive in females. Has been mapped to the long arm of the X-chromosome (Xq25) but the causative gene has not been identified. Transmission is X-linked recessive.
Id718579008
StatusPrimitive
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