aandoening van beide ogen	autosomaal dominante hereditaire aandoening	chronische ziekte	congenitaal coloboom van iris	hereditaire ontwikkelingsstoornis	hereditaire retinadystrofie
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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.

Id	1172636006
Status	Primitive

Clinical course

Associated morphology	fusiedefect door stoornis in ontwikkeling
Finding site	structuur van iris van rechter oog
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	fusiedefect door stoornis in ontwikkeling
Finding site	structuur van iris van linker oog
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	dystrofie
Finding site	structuur van retina

SNOMED CT to Orphanet simple map

488197

SNOMED CT to ICD-10 extended map

Target	Q13.8
Rule	TRUE
Advice	ALWAYS Q13.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified