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770791000: vitréorétinopathie inflammatoire néovasculaire autosomique dominante (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1001871000172117 ADNIV - autosomal dominant neovascular inflammatory vitreoretinopathy fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3702807011 Autosomal dominant neovascular inflammatory vitreoretinopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3702808018 Autosomal dominant neovascular inflammatory vitreoretinopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
769941000241112 vitréorétinopathie inflammatoire néovasculaire autosomique dominante (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
939471000172118 vitréorétinopathie inflammatoire néovasculaire autosomique dominante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3702809014 A rare genetic vitreoretinal degeneration characterised by a slowly progressive vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degeneration, vitreous haemorrhage, cystoid macular oedema, retinal neovascularisation, intraocular fibrosis, secondary glaucoma, and retinal detachment leading to phthisis and complete blindness. Caused by heterozygous mutation in the CAPN5 gene on chromosome 11q14. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3702810016 A rare genetic vitreoretinal degeneration characterized by a slowly progressive vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degeneration, vitreous hemorrhage, cystoid macular edema, retinal neovascularization, intraocular fibrosis, secondary glaucoma, and retinal detachment leading to phthisis and complete blindness. Caused by heterozygous mutation in the CAPN5 gene on chromosome 11q14. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant neovascular inflammatory vitreoretinopathy (disorder) est un(e) (attribut) maladie chronique des annexes de l'oeil true Inferred relationship Some
Autosomal dominant neovascular inflammatory vitreoretinopathy (disorder) morphologie associée (attribut) atrophie (anomalie morphologique) true Inferred relationship Some 1
Autosomal dominant neovascular inflammatory vitreoretinopathy (disorder) est un(e) (attribut) Connective tissue hereditary disorder true Inferred relationship Some
Autosomal dominant neovascular inflammatory vitreoretinopathy (disorder) est un(e) (attribut) maladie chronique false Inferred relationship Some
Autosomal dominant neovascular inflammatory vitreoretinopathy (disorder) est un(e) (attribut) Vitreoretinal degeneration true Inferred relationship Some
Autosomal dominant neovascular inflammatory vitreoretinopathy (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Autosomal dominant neovascular inflammatory vitreoretinopathy (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Autosomal dominant neovascular inflammatory vitreoretinopathy (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 3
Autosomal dominant neovascular inflammatory vitreoretinopathy (disorder) morphologie associée (attribut) atrophie (anomalie morphologique) true Inferred relationship Some 2
Autosomal dominant neovascular inflammatory vitreoretinopathy (disorder) localisation d'une constatation (attribut) Peripheral retina true Inferred relationship Some 2
Autosomal dominant neovascular inflammatory vitreoretinopathy (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 1
Autosomal dominant neovascular inflammatory vitreoretinopathy (disorder) localisation d'une constatation (attribut) Vitreous body structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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