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719431007: Autosomal dominant late-onset retinal degeneration (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3315716013 Autosomal dominant late-onset retinal degeneration (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316320017 Autosomal dominant late-onset retinal degeneration en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316321018 Late-onset retinal degeneration en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316322013 An inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3316323015 An inherited retinal dystrophy characterised by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularisation and glaucoma may occur in the late stages of the disease. 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 late-onset retinal degeneration (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Autosomal dominant late-onset retinal degeneration (disorder) Is a Hereditary retinal dystrophy true Inferred relationship Some
Autosomal dominant late-onset retinal degeneration (disorder) Associated morphology Dystrophy true Inferred relationship Some 1
Autosomal dominant late-onset retinal degeneration (disorder) Finding site Retinal 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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