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syndroom van familiaire progressieve retinadystrofie, iriscoloboom en congenitaal cataract (aandoening)
syndroom van familiaire progressieve retinadystrofie, iriscoloboom en congenitaal cataract
syndroom van familiaire progressieve retinadystrofie, coloboma iridis en cataracta congenita
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
A rare genetic retinal disorder with characteristics of bilateral iris coloboma, progressive retinal dystrophy and marked loss of vision, with or without congenital cataracts. Iridolenticular adhesions, scattered retinal pigmented epithelia mottling and mild hypermetropic astigmatism may be associated.
Id1172636006
StatusPrimitive
Clinical courseprogressief
Associated morphologyfusiedefect
Finding sitestructuur van iris van rechter oog
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyfusiedefect
Finding sitestructuur van iris van linker oog
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydystrofie
Finding sitestructuur van retina
SNOMED CT to Orphanet simple map488197
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