763387005: Best vitelliform macular 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\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Best vitelliform macular dystrophy
• \Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Degenerative disorder of macula\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Best vitelliform macular dystrophy
• \Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Finding of head region\Globe finding\Retina finding\Macula finding\Disorder of macula of retina\Degenerative disorder of macula\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Finding of head region\Globe finding\Retina finding\Retinal disorder\Disorder of macula of retina\Degenerative disorder of macula\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Best vitelliform macular dystrophy
• \Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Best vitelliform macular dystrophy
• \Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Degenerative disorder of macula\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Best vitelliform macular dystrophy
• \Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Disorder of head\Disorder of eye region\Disorder of eye\...
• \Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\...
• \Degeneration of posterior pole of eye\Degenerative disorder of macula\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Retinal dystrophy\Best vitelliform macular dystrophy
• \Retinal deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\...
• \Disorder of macula of retina\Degenerative disorder of macula\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Degeneration of retina\Retinal dystrophy\Best vitelliform macular dystrophy
• \Degeneration of retina\Retinal deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Eye / vision finding\Globe finding\Retina finding\Macula finding\Disorder of macula of retina\Degenerative disorder of macula\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Disorder of macula of retina\Degenerative disorder of macula\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Best vitelliform macular dystrophy
• \Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Best vitelliform macular dystrophy
• \Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Degenerative disorder of macula\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Best vitelliform macular dystrophy
• \Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Best vitelliform macular dystrophy
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Degenerative disorder of macula\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Best vitelliform macular dystrophy
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Best vitelliform macular dystrophy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Best vitelliform macular dystrophy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Best vitelliform macular dystrophy
• \Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Best vitelliform macular dystrophy
• \Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Best vitelliform macular dystrophy
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Best vitelliform macular dystrophy
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Degenerative disorder of macula\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Best vitelliform macular dystrophy
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Best vitelliform macular dystrophy
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Best vitelliform macular dystrophy
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Degenerative disorder of macula\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Best vitelliform macular dystrophy
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular dystrophy
• \Disease\Chronic disease\Best vitelliform macular dystrophy

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3641817018	Best vitelliform macular dystrophy (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3641818011	Best vitelliform macular dystrophy	en	Synonym	Active	Case sensitive	SNOMED CT core
3641838012	Best disease	en	Synonym	Active	Case sensitive	SNOMED CT core
3641839016	Polymorphic vitelline macular degeneration	en	Synonym	Active	Case insensitive	SNOMED CT core
3641840019	Early-onset vitelliform macular dystrophy	en	Synonym	Active	Case insensitive	SNOMED CT core
5168741017	Juvenile-onset vitelliform macular dystrophy	en	Synonym	Active	Case insensitive	SNOMED CT core
5168742012	BMD - Best macular dystrophy	en	Synonym	Active	Case sensitive	SNOMED CT core
5168743019	Vitelliform macular dystrophy type 2	en	Synonym	Active	Case insensitive	SNOMED CT core
5168744013	BVMD - Best vitelliform macular dystrophy	en	Synonym	Active	Case sensitive	SNOMED CT core
5168745014	A genetic macular dystrophy with characteristics of loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region. Onset is in childhood and sometimes in later teenage years (5-13 years). Affected individuals have normal vision at birth. The disease then progresses through distinct stages and has characteristics of atrophy of the retinal pigment epithelium (RPE) affecting photoreceptors with impaired central visual function. In most cases, the disease is caused by mutations in BEST1 (11q12), encoding for bestrophin-1, a chloride channel expressed in RPE. A defect in this protein leads to accumulation of lipofuscin secondary to abnormal ion exchange. Inherited in an autosomal dominant manner with complete penetrance.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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