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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
3302927017 Cochleosaccular degeneration and cataract syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
3302930012 Rare syndrome with manifestation of progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far reported in two families. Transmission is autosomal dominant. en Definition Active Entire term case sensitive (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
562061000274116 Syndrom mit kochleosakkulärer Degeneration und Katarakt de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
600991000274116 Syndrom mit cochleo-sacculärer Degeneration und Katarakt de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
917461000172110 syndrome de dégénérescence cochléo-sacculaire-cataracte fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
917461000172110 syndrome de dégénérescence cochléo-sacculaire-cataracte fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
562061000274116 Syndrom mit kochleosakkulärer Degeneration und Katarakt de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
600991000274116 Syndrom mit cochleo-sacculärer Degeneration und Katarakt de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3422651001000112 Kochleosakkuläre Degeneration - Katarakt de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


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 Existential restriction modifier (core metadata concept)
Cochleosaccular degeneration and cataract syndrome (disorder) Is a Cataract true Inferred relationship Existential restriction modifier (core metadata concept)
Cochleosaccular degeneration and cataract syndrome (disorder) Is a Inherited cochlear degeneration true Inferred relationship Existential restriction modifier (core metadata concept)
Cochleosaccular degeneration and cataract syndrome (disorder) Is a Auditory system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Cochleosaccular degeneration and cataract syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Cochleosaccular degeneration and cataract syndrome (disorder) Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 3
Cochleosaccular degeneration and cataract syndrome (disorder) Finding site Cochlear structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Cochleosaccular degeneration and cataract syndrome (disorder) Associated morphology Cataract false Inferred relationship Existential restriction modifier (core metadata concept) 4
Cochleosaccular degeneration and cataract syndrome (disorder) Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Cochleosaccular degeneration and cataract syndrome (disorder) Associated morphology Opacity true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cochleosaccular degeneration and cataract syndrome (disorder) Finding site Structure of lens of eye (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cochleosaccular degeneration and cataract syndrome (disorder) Finding site Cochlear structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cochleosaccular degeneration and cataract syndrome (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 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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