atrofie van macula	autosomaal recessieve hereditaire aandoening	congenitaal coloboom van beide papilla nervi optici	hereditaire ontwikkelingsstoornis	hereditaire opticusneuropathie
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syndroom van coloboom van papilla nervi optici, atrofie van macula en chorioretinopathie (aandoening)
	syndroom van coloboom van papilla nervi optici, atrofie van macula en chorioretinopathie
	syndroom van coloboom van papil, atrofie van macula en chorioretinopathie syndroom van coloboom van blinde vlek, maculaire atrofie en aandoening van vaatvlies en/of netvlies
	Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome
	A rare genetic eye disease with characteristics of optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity.

Id	1197357008
Status	Primitive

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

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

Associated morphology	atrophia
Finding site	structuur van macula lutea

SNOMED CT to Orphanet simple map

435930

SNOMED CT to ICD-10 extended map

Target	Q14.8
Rule	TRUE
Advice	ALWAYS Q14.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified