764969006: retinadystrofie bij biallelische retinapigmentepitheelspecifiek 65-kDa-proteïne-mutatie (aandoening)

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

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

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 (core metadata concept)	SNOMED CT core
3655850015	Biallelic RPE65 mutation associated retinal dystrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3655851016	Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
7003301000146113	retinadystrofie bij bi-allelische RPE65-mutatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7003311000146110	retinadystrofie bij biallelische RPE65-mutatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7021901000146118	retinadystrofie bij biallelische retinapigmentepitheelspecifiek 65-kDa-proteïne-mutatie (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7021911000146116	retinadystrofie bij biallelische retinapigmentepitheelspecifiek 65-kDa-proteïne-mutatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3655854012	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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