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X-gebonden endotheliale corneadystrofie (aandoening)
X-gebonden endotheliale corneadystrofie
X-gebonden endotheeldystrofie van hoornvlies
X-gebonden cornea-endotheeldystrofie
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
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetH18.5
TermHereditaire corneadystrofie├źn
SNOMED CT to Orphanet simple map293621
SNOMED CT to ICD-10 extended map
TargetH18.5
RuleTRUE
AdviceALWAYS H18.5
CorrelationSNOMED CT source code to target map code correlation not specified