Congenital disease	Hereditary retinal dystrophy primarily involving retinal pigment epithelium
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Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy (disorder)
	Biallelic RPE65 mutation associated retinal dystrophy
	Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy
	Biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation). The RPE65 gene provides instructions for making an enzyme that is essential for normal vision and mutations in this gene result in reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision. Almost all patients eventually progress to complete blindness.
	retinadystrofie bij biallelische retinapigmentepitheelspecifiek 65-kDa-proteïne-mutatie
	retinadystrofie bij bi-allelische RPE65-mutatie retinadystrofie bij biallelische RPE65-mutatie

Id	764969006
Status	Primitive

Associated morphology	Dystrophy
Finding site	Retinal structure
Occurrence	Congenital

ICD-10 complex map reference set

Target	H35.5
Rule	TRUE
Advice	ALWAYS H35.5
Correlation	SNOMED CT source code to target map code correlation not specified