congenitaal malformatiesyndroom
congenitale afakie
genetische aandoening
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congenitaal syndroom van afakie, irishypoplasie, microftalmie en microcornea (aandoening)
congenitaal syndroom van afakie, irishypoplasie, microftalmie en microcornea
Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
A rare genetic disorder involving multiple structures of the eye. The disease is characterized by a combination of congenital aphakia and pan ocular anomalies including iris hypoplasia, microphthalmia, and microcornea. Other ophthalmological features may include nystagmus, glaucoma, strabismus, congenital leukocoria, anterior persistent fetal vasculature and posterior segment anomalies (e.g. optic nerve and foveal hypoplasia, intravitreous hemorrhages). No extraocular manifestations are observed.
Id1303582008
StatusPrimitive
Associated morphologyagenesie
Finding sitegehele lens
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to ICD-10 extended map
TargetQ13.8
RuleTRUE
AdviceALWAYS Q13.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified