763387005: Best vitelliform macular 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\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Macular vitelliform deposits\Best vitelliform macular dystrophy (disorder)
\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\Best vitelliform macular dystrophy (disorder)
\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 deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular 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\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Macular vitelliform deposits\Best vitelliform macular 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\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Macular vitelliform deposits\Best vitelliform macular 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\Best vitelliform macular 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 deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular dystrophy (disorder)
\Finding of head region\Globe finding\Retina finding (finding)\Macula finding\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Macular vitelliform deposits\Best vitelliform macular dystrophy (disorder)
\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Macular vitelliform deposits\Best vitelliform macular dystrophy (disorder)
\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Macular vitelliform deposits\Best vitelliform macular dystrophy (disorder)
\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Best vitelliform macular dystrophy (disorder)
\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular dystrophy (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Macular vitelliform deposits\Best vitelliform macular 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\Best vitelliform macular 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 deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular 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\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Macular vitelliform deposits\Best vitelliform macular 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\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Macular vitelliform deposits\Best vitelliform macular 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\Best vitelliform macular 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 deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular 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\...

\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Macular vitelliform deposits\Best vitelliform macular dystrophy (disorder)

\Retinal dystrophy\Best vitelliform macular dystrophy (disorder)

\Retinal deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular dystrophy (disorder)

\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\...

\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Macular vitelliform deposits\Best vitelliform macular dystrophy (disorder)

\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Macular vitelliform deposits\Best vitelliform macular dystrophy (disorder)
\Degeneration of retina\Retinal dystrophy\Best vitelliform macular dystrophy (disorder)
\Degeneration of retina\Retinal deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular dystrophy (disorder)

\Eye / vision finding\Globe finding\Retina finding (finding)\Macula finding\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Macular vitelliform deposits\Best vitelliform macular dystrophy (disorder)
\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Macular vitelliform deposits\Best vitelliform macular dystrophy (disorder)
\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Macular vitelliform deposits\Best vitelliform macular dystrophy (disorder)
\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Best vitelliform macular dystrophy (disorder)
\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular dystrophy (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Macular vitelliform deposits\Best vitelliform macular 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\Best vitelliform macular dystrophy (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular 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\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Macular vitelliform deposits\Best vitelliform macular 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\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Macular vitelliform deposits\Best vitelliform macular 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\Best vitelliform macular 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 deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular 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\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Macular vitelliform deposits\Best vitelliform macular 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\Best vitelliform macular 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 deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular 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\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Macular vitelliform deposits\Best vitelliform macular 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\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Macular vitelliform deposits\Best vitelliform macular 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\Best vitelliform macular 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 deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular dystrophy (disorder)
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Best vitelliform macular dystrophy (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Best vitelliform macular dystrophy (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Best vitelliform macular dystrophy (disorder)
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Macular vitelliform deposits\Best vitelliform macular dystrophy (disorder)
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Best vitelliform macular dystrophy (disorder)
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular dystrophy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Best vitelliform macular 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\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Macular vitelliform deposits\Best vitelliform macular 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\Best vitelliform macular 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 deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular 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\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Macular vitelliform deposits\Best vitelliform macular 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\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Macular vitelliform deposits\Best vitelliform macular 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\Best vitelliform macular 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 deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular dystrophy (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Best vitelliform macular 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\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Macular vitelliform deposits\Best vitelliform macular 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\Best vitelliform macular 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 deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular 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\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Macular vitelliform deposits\Best vitelliform macular 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\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Macular vitelliform deposits\Best vitelliform macular 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\Best vitelliform macular 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 deposits\Retinal vitelliform deposits\Macular vitelliform deposits\Best vitelliform macular dystrophy (disorder)
\Disease\Chronic disease\Best vitelliform macular 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

3641817018 Best vitelliform macular dystrophy (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3641818011 Best vitelliform macular dystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3641838012 Best disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3641839016 Polymorphic vitelline macular degeneration en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3641840019 Early-onset vitelliform macular dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5168741017 Juvenile-onset vitelliform macular dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5168742012 BMD - Best macular dystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5168743019 Vitelliform macular dystrophy type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5168744013 BVMD - Best vitelliform macular dystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

925611000172110 dystrophie maculaire vitelliforme de Best fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

999141000172114 BMD - best vitelliform macular dystrophy fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Best vitelliform macular dystrophy (disorder)	Is a	Autosomal hereditary disorder	false	Inferred relationship	Some
Best vitelliform macular dystrophy (disorder)	Is a	dystrophie vitelliforme	false	Inferred relationship	Some
Best vitelliform macular dystrophy (disorder)	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
Best vitelliform macular dystrophy (disorder)	Finding site	Macula lutea structure	true	Inferred relationship	Some	1
Best vitelliform macular dystrophy (disorder)	Due to	Macular vitelliform deposits	false	Inferred relationship	Some	2
Best vitelliform macular dystrophy (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Best vitelliform macular dystrophy (disorder)	Is a	Macular vitelliform deposits	true	Inferred relationship	Some
Best vitelliform macular dystrophy (disorder)	Is a	Chronic disease	true	Inferred relationship	Some
Best vitelliform macular dystrophy (disorder)	Is a	Retinal dystrophy	true	Inferred relationship	Some
Best vitelliform macular dystrophy (disorder)	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Best vitelliform macular dystrophy (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	3
Best vitelliform macular dystrophy (disorder)	Occurrence	Childhood	true	Inferred relationship	Some	1
Best vitelliform macular dystrophy (disorder)	Associated morphology	Deposition	true	Inferred relationship	Some	1
Best vitelliform macular dystrophy (disorder)	Occurrence	Childhood	true	Inferred relationship	Some	2
Best vitelliform macular dystrophy (disorder)	Finding site	Macula lutea structure	true	Inferred relationship	Some	2
Best vitelliform macular dystrophy (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets