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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.
Id1197357008
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van macula lutea
SNOMED CT to Orphanet simple map435930
SNOMED CT to ICD-10 extended map
TargetQ14.8
RuleTRUE
AdviceALWAYS Q14.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified