Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2023. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5168733017 | A rare genetic macular dystrophy with characteristics of blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated yellow egg yolk-like lesion located in the foveal or parafoveal region. Clinical onset is typically between the fourth and sixth decade of life. The mechanism underlying the physiopathology is unknown. An autosomal dominant inheritance with variable expression and incomplete penetrance is suggested but the disease can also be sporadic without evidence of a familial inheritance pattern. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
347699011 | Adult vitelliform macular dystrophy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
620064010 | Adult vitelliform macular dystrophy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3641842010 | Adult-onset foveomacular dystrophy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5168734011 | AOFMD - adult-onset foveomacular dystrophy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5168735012 | AVMD - adult vitelliform macular dystrophy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5168736013 | Gass disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5168737016 | Pseudo-Best disease | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
5168738014 | Pseudo-vitelliform macular dystrophy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5168739018 | Adult-onset vitelliform macular dystrophy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
2843561000005118 | vitelliform makuladystrofi hos voksen | da | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Danish module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
A rare genetic macular dystrophy with characteristics of blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated yellow egg yolk-like lesion located in the foveal or parafoveal region. Clinical onset is typically between the fourth and sixth decade of life. The mechanism underlying the physiopathology is unknown. An autosomal dominant inheritance with variable expression and incomplete penetrance is suggested but the disease can also be sporadic without evidence of a familial inheritance pattern. | Is a | vitelliform maculadystrofi | false | Inferred relationship | Some | ||
A rare genetic macular dystrophy with characteristics of blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated yellow egg yolk-like lesion located in the foveal or parafoveal region. Clinical onset is typically between the fourth and sixth decade of life. The mechanism underlying the physiopathology is unknown. An autosomal dominant inheritance with variable expression and incomplete penetrance is suggested but the disease can also be sporadic without evidence of a familial inheritance pattern. | Finding site | Macula lutea structure | false | Inferred relationship | Some | ||
A rare genetic macular dystrophy with characteristics of blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated yellow egg yolk-like lesion located in the foveal or parafoveal region. Clinical onset is typically between the fourth and sixth decade of life. The mechanism underlying the physiopathology is unknown. An autosomal dominant inheritance with variable expression and incomplete penetrance is suggested but the disease can also be sporadic without evidence of a familial inheritance pattern. | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
A rare genetic macular dystrophy with characteristics of blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated yellow egg yolk-like lesion located in the foveal or parafoveal region. Clinical onset is typically between the fourth and sixth decade of life. The mechanism underlying the physiopathology is unknown. An autosomal dominant inheritance with variable expression and incomplete penetrance is suggested but the disease can also be sporadic without evidence of a familial inheritance pattern. | Finding site | Retinal structure | false | Inferred relationship | Some | 1 | |
A rare genetic macular dystrophy with characteristics of blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated yellow egg yolk-like lesion located in the foveal or parafoveal region. Clinical onset is typically between the fourth and sixth decade of life. The mechanism underlying the physiopathology is unknown. An autosomal dominant inheritance with variable expression and incomplete penetrance is suggested but the disease can also be sporadic without evidence of a familial inheritance pattern. | Finding site | Macula lutea structure | true | Inferred relationship | Some | 1 | |
A rare genetic macular dystrophy with characteristics of blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated yellow egg yolk-like lesion located in the foveal or parafoveal region. Clinical onset is typically between the fourth and sixth decade of life. The mechanism underlying the physiopathology is unknown. An autosomal dominant inheritance with variable expression and incomplete penetrance is suggested but the disease can also be sporadic without evidence of a familial inheritance pattern. | Due to | Macular vitelliform deposits | false | Inferred relationship | Some | 2 | |
A rare genetic macular dystrophy with characteristics of blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated yellow egg yolk-like lesion located in the foveal or parafoveal region. Clinical onset is typically between the fourth and sixth decade of life. The mechanism underlying the physiopathology is unknown. An autosomal dominant inheritance with variable expression and incomplete penetrance is suggested but the disease can also be sporadic without evidence of a familial inheritance pattern. | Occurrence | Adulthood | true | Inferred relationship | Some | 1 | |
A rare genetic macular dystrophy with characteristics of blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated yellow egg yolk-like lesion located in the foveal or parafoveal region. Clinical onset is typically between the fourth and sixth decade of life. The mechanism underlying the physiopathology is unknown. An autosomal dominant inheritance with variable expression and incomplete penetrance is suggested but the disease can also be sporadic without evidence of a familial inheritance pattern. | Is a | Macular vitelliform deposits | true | Inferred relationship | Some | ||
A rare genetic macular dystrophy with characteristics of blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated yellow egg yolk-like lesion located in the foveal or parafoveal region. Clinical onset is typically between the fourth and sixth decade of life. The mechanism underlying the physiopathology is unknown. An autosomal dominant inheritance with variable expression and incomplete penetrance is suggested but the disease can also be sporadic without evidence of a familial inheritance pattern. | Is a | Chronic disease | true | Inferred relationship | Some | ||
A rare genetic macular dystrophy with characteristics of blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated yellow egg yolk-like lesion located in the foveal or parafoveal region. Clinical onset is typically between the fourth and sixth decade of life. The mechanism underlying the physiopathology is unknown. An autosomal dominant inheritance with variable expression and incomplete penetrance is suggested but the disease can also be sporadic without evidence of a familial inheritance pattern. | Is a | Retinal dystrophy | true | Inferred relationship | Some | ||
A rare genetic macular dystrophy with characteristics of blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated yellow egg yolk-like lesion located in the foveal or parafoveal region. Clinical onset is typically between the fourth and sixth decade of life. The mechanism underlying the physiopathology is unknown. An autosomal dominant inheritance with variable expression and incomplete penetrance is suggested but the disease can also be sporadic without evidence of a familial inheritance pattern. | Is a | Genetic disease | true | Inferred relationship | Some | ||
A rare genetic macular dystrophy with characteristics of blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated yellow egg yolk-like lesion located in the foveal or parafoveal region. Clinical onset is typically between the fourth and sixth decade of life. The mechanism underlying the physiopathology is unknown. An autosomal dominant inheritance with variable expression and incomplete penetrance is suggested but the disease can also be sporadic without evidence of a familial inheritance pattern. | Clinical course | Progressive | true | Inferred relationship | Some | 3 | |
A rare genetic macular dystrophy with characteristics of blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated yellow egg yolk-like lesion located in the foveal or parafoveal region. Clinical onset is typically between the fourth and sixth decade of life. The mechanism underlying the physiopathology is unknown. An autosomal dominant inheritance with variable expression and incomplete penetrance is suggested but the disease can also be sporadic without evidence of a familial inheritance pattern. | Occurrence | Adulthood | true | Inferred relationship | Some | 2 | |
A rare genetic macular dystrophy with characteristics of blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated yellow egg yolk-like lesion located in the foveal or parafoveal region. Clinical onset is typically between the fourth and sixth decade of life. The mechanism underlying the physiopathology is unknown. An autosomal dominant inheritance with variable expression and incomplete penetrance is suggested but the disease can also be sporadic without evidence of a familial inheritance pattern. | Finding site | Macula lutea structure | true | Inferred relationship | Some | 2 | |
A rare genetic macular dystrophy with characteristics of blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated yellow egg yolk-like lesion located in the foveal or parafoveal region. Clinical onset is typically between the fourth and sixth decade of life. The mechanism underlying the physiopathology is unknown. An autosomal dominant inheritance with variable expression and incomplete penetrance is suggested but the disease can also be sporadic without evidence of a familial inheritance pattern. | Associated morphology | Deposition | true | Inferred relationship | Some | 2 | |
A rare genetic macular dystrophy with characteristics of blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated yellow egg yolk-like lesion located in the foveal or parafoveal region. Clinical onset is typically between the fourth and sixth decade of life. The mechanism underlying the physiopathology is unknown. An autosomal dominant inheritance with variable expression and incomplete penetrance is suggested but the disease can also be sporadic without evidence of a familial inheritance pattern. | Is a | Degenerative disorder of macula (disorder) | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Description inactivation indicator reference set