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715528001: Cochleosaccular degeneration and cataract syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3302927017 Cochleosaccular degeneration and cataract syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302928010 Cochleosaccular degeneration and cataract syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302929019 Cochleosaccular degeneration with progressive cataract en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5400945012 Cochleosaccular degeneration-cataract syndrome is characterized by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400946013 Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant. 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
Cochleosaccular degeneration and cataract syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Cochleosaccular degeneration and cataract syndrome (disorder) Is a Cataract true Inferred relationship Some
Cochleosaccular degeneration and cataract syndrome (disorder) Is a Inherited cochlear degeneration true Inferred relationship Some
Cochleosaccular degeneration and cataract syndrome (disorder) Is a Auditory system hereditary disorder false Inferred relationship Some
Cochleosaccular degeneration and cataract syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Cochleosaccular degeneration and cataract syndrome (disorder) Associated morphology Degeneration false Inferred relationship Some 3
Cochleosaccular degeneration and cataract syndrome (disorder) Finding site Cochlear structure false Inferred relationship Some 3
Cochleosaccular degeneration and cataract syndrome (disorder) Associated morphology Cataract false Inferred relationship Some 4
Cochleosaccular degeneration and cataract syndrome (disorder) Finding site Lens clear false Inferred relationship Some 4
Cochleosaccular degeneration and cataract syndrome (disorder) Associated morphology Opacity true Inferred relationship Some 1
Cochleosaccular degeneration and cataract syndrome (disorder) Finding site Lens clear true Inferred relationship Some 1
Cochleosaccular degeneration and cataract syndrome (disorder) Finding site Cochlear structure true Inferred relationship Some 2
Cochleosaccular degeneration and cataract syndrome (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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