723828008: Autosomal recessive bestrophinopathy (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Autosomal recessive bestrophinopathy
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Autosomal recessive bestrophinopathy
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Retina finding (finding)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Autosomal recessive bestrophinopathy
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Autosomal recessive bestrophinopathy
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Autosomal recessive bestrophinopathy
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Autosomal recessive bestrophinopathy
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Autosomal recessive bestrophinopathy
• \Eye / vision finding\Globe finding (finding)\Retina finding (finding)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Autosomal recessive bestrophinopathy
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Autosomal recessive bestrophinopathy
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Autosomal recessive bestrophinopathy
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Autosomal recessive bestrophinopathy
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Autosomal recessive bestrophinopathy
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy (disorder)\Autosomal recessive bestrophinopathy
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Autosomal recessive bestrophinopathy
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Autosomal recessive bestrophinopathy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy (disorder)\Autosomal recessive bestrophinopathy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive bestrophinopathy
• \Disease\Degenerative disorder\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Autosomal recessive bestrophinopathy
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy (disorder)\Autosomal recessive bestrophinopathy
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Autosomal recessive bestrophinopathy
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Autosomal recessive bestrophinopathy
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy (disorder)\Autosomal recessive bestrophinopathy
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Autosomal recessive bestrophinopathy
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Autosomal recessive bestrophinopathy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3426298018	Retinopathy Burgess Black type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3426299014	Autosomal recessive bestrophinopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3426300018	Autosomal recessive bestrophinopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403170010	A rare retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403171014	A rare retinal dystrophy, characterised by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3426298018	Retinopathy Burgess Black type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3426299014	Autosomal recessive bestrophinopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3426300018	Autosomal recessive bestrophinopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3426297011	A retinal dystrophy with characteristics of central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG). To date less than 20 cases have been described in the world literature. Caused by compound heterozygous or homozygous mutations in the BEST1 gene (11q12) which encodes the chloride ion channel bestrophin-1 (expressed in the retinal pigment epithelium (RPE)). Mutations in BEST1 reduce or abolish the activity of the channel. It has been proposed that ARB may represent the null phenotype of bestrophin-1 in humans. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403170010	A rare retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403171014	A rare retinal dystrophy, characterised by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
534841000274111	Retinopathie Typ Burgess-Black	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
567651000274113	Autosomal-rezessive Bestrophinopathie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
932371000172117	bestrophinopathie autosomique récessive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
956541000172116	rétinopathie type Burgess-Black	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
932371000172117	bestrophinopathie autosomique récessive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
956541000172116	rétinopathie type Burgess-Black	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
534841000274111	Retinopathie Typ Burgess-Black	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
567651000274113	Autosomal-rezessive Bestrophinopathie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3384171001000115	Bestrophinopathie, autosomal-rezessive	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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