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.
Associated morphologyinflammatoire morfologie
Finding sitestructuur van cornea
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige gespecificeerde vormen van keratitis
SNOMED CT to Orphanet simple map2334
SNOMED CT to ICD-10 extended map
AdviceALWAYS H16.8
CorrelationSNOMED CT source code to target map code correlation not specified