764969006: Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy
• \Finding of head region\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy
• \Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy
• \Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy
• \Finding of head region\Globe finding\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy
• \Disorder of head\Disorder of eye region\Disorder of eye proper\...
• \Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy
• \Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy
• \Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy
• \Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy
• \Eye / vision finding\Globe finding\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy
• \Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy
• \Disease\Congenital disease\Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3655849015	Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3655850015	Biallelic RPE65 mutation associated retinal dystrophy	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3655851016	Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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