Atrophy of macula lutea	Autosomal recessive hereditary disorder	Bilateral congenital coloboma of optic discs	Developmental hereditary disorder	Inherited optic neuropathy
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Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome (disorder)
	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	Developmental failure of fusion
Finding site	Structure of left optic disc
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Developmental failure of fusion
Finding site	Structure of right optic disc
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Atrophy
Finding site	Macula lutea structure

ICD-10 complex map reference set

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