|autosomaal dominante keratitis (aandoening)|
autosomaal dominante keratitis
Autosomal dominant 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.
|referentieset met complexe 'mapping' naar ICD-10|
|Correlation||SNOMED CT source code to target map code correlation not specified|