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763387005: 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
5404054019 Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404055018 Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterised by 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
5404054019 Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404055018 Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterised by 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
542471000274113 BMD - Best vitelliforme Makuladegeneration de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
572861000274119 Best vitelliforme Makuladegeneration de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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
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
542471000274113 BMD - Best vitelliforme Makuladegeneration de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
572861000274119 Best vitelliforme Makuladegeneration de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

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 Existential restriction modifier (core metadata concept)
Best vitelliform macular dystrophy (disorder) Is a dystrophie vitelliforme false Inferred relationship Existential restriction modifier (core metadata concept)
Best vitelliform macular dystrophy (disorder) Associated morphology Dystrophy false Inferred relationship Existential restriction modifier (core metadata concept) 1
Best vitelliform macular dystrophy (disorder) Finding site Macula lutea structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Best vitelliform macular dystrophy (disorder) Due to Macular vitelliform deposits false Inferred relationship Existential restriction modifier (core metadata concept) 2
Best vitelliform macular dystrophy (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Best vitelliform macular dystrophy (disorder) Is a Macular vitelliform deposits true Inferred relationship Existential restriction modifier (core metadata concept)
Best vitelliform macular dystrophy (disorder) Is a Chronic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Best vitelliform macular dystrophy (disorder) Is a Retinal dystrophy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Best vitelliform macular dystrophy (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Best vitelliform macular dystrophy (disorder) Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 3
Best vitelliform macular dystrophy (disorder) Occurrence Childhood true Inferred relationship Existential restriction modifier (core metadata concept) 1
Best vitelliform macular dystrophy (disorder) Associated morphology Deposition true Inferred relationship Existential restriction modifier (core metadata concept) 1
Best vitelliform macular dystrophy (disorder) Occurrence Childhood true Inferred relationship Existential restriction modifier (core metadata concept) 2
Best vitelliform macular dystrophy (disorder) Finding site Macula lutea structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Best vitelliform macular dystrophy (disorder) Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 2
Best vitelliform macular dystrophy (disorder) Is a Degenerative disorder of macula (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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