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subepitheliale mucineuze corneadystrofie (aandoening)
subepitheliale mucineuze corneadystrofie
Subepithelial mucinous corneal dystrophy
A very rare form of superficial corneal dystrophy with characteristics of frequent recurrent corneal erosions in the first decade of life and progressive loss of vision. The condition has only been reported in one single family. Painful episodes of recurrent corneal erosions occur in the first decade of life but decrease during adolescence. Later in life, patients are reported to develop subepithelial opacities and a corneal haze. The disease eventually progresses over time leading to corneal opacities and loss of vision. The gene related to this disease has not been mapped to a particular chromosomal locus.
Id723582004
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van cornea
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetH18.5
TermHereditaire corneadystrofieën
SNOMED CT to Orphanet simple map98959
SNOMED CT to ICD-10 extended map
TargetH18.5
RuleTRUE
AdviceALWAYS H18.5
CorrelationSNOMED CT source code to target map code correlation not specified