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 |
| 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 | Inactive | 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 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. | Is a | Autosomal hereditary disorder | false | Inferred relationship | Some | ||
| 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. | Is a | vitelliform maculadystrofi | false | Inferred relationship | Some | ||
| 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. | Associated morphology | Dystrophy | false | Inferred relationship | Some | 1 | |
| 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. | Finding site | Macula lutea structure | true | Inferred relationship | Some | 1 | |
| 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. | Due to | Macular vitelliform deposits | false | Inferred relationship | Some | 2 | |
| 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. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| 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. | Is a | Macular vitelliform deposits | true | Inferred relationship | Some | ||
| 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. | Is a | Chronic disease | true | Inferred relationship | Some | ||
| 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. | Is a | Retinal dystrophy | true | Inferred relationship | Some | ||
| 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. | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
| 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. | Clinical course | Progressive | true | Inferred relationship | Some | 3 | |
| 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. | Occurrence | Childhood | true | Inferred relationship | Some | 1 | |
| 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. | Associated morphology | Deposition | true | Inferred relationship | Some | 1 | |
| 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. | Occurrence | Childhood | true | Inferred relationship | Some | 2 | |
| 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. | Finding site | Macula lutea structure | true | Inferred relationship | Some | 2 | |
| 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. | Associated morphology | Dystrophy | true | Inferred relationship | Some | 2 | |
| 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. | Is a | Degenerative disorder of macula (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR