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autosomaal dominante keratitis (aandoening)
autosomaal dominante keratitis
Autosomal dominant keratitis
Hereditary keratitis
Opacification and vascularization of the cornea, often associated with macula hypoplasia. The prevalence is unknown. The syndrome is transmitted in an autosomal dominant manner and is associated with mutations in the PAX6 gene. The presence of macular hypoplasia and iris anomalies in some familial cases suggest that in these cases the disease may be a form of aniridia.
Id715339004
StatusDefined
Associated morphologyinflammatoire morfologie
Finding sitestructuur van cornea
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetH16.8
RuleTRUE
AdviceALWAYS H16.8
CorrelationSNOMED CT source code to target map code correlation not specified