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

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of head and neck region\Head finding (finding)\...

\Finding of head 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)
\Finding of head 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)
\Finding of head 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)
\Finding of head 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)
\Finding of head 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)

\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)

\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\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\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\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\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\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)
\Disease\Congenital disease (disorder)\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

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

4136881000052113 retinal dystrofi i samband med biallelisk RPE65-mutation sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy (disorder)	Is a	Congenital disease (disorder)	true	Inferred relationship	Some
Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy (disorder)	Is a	Hereditary retinal dystrophy primarily involving retinal pigment epithelium	true	Inferred relationship	Some
Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy (disorder)	Finding site	Retinal structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
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
4136881000052113	retinal dystrofi i samband med biallelisk RPE65-mutation	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)