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783203003: Ataxia with tapetoretinal degeneration syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3758081011 Ataxia with tapetoretinal degeneration syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3758082016 Ataxia with tapetoretinal degeneration syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3758083014 A rare hereditary ataxia with characteristics of simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3758081011 Ataxia with tapetoretinal degeneration syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3758082016 Ataxia with tapetoretinal degeneration syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3758083014 A rare hereditary ataxia with characteristics of simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3437691001000116 Ataxie mit tapetoretinaler Degeneration de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5777851000241119 syndrome d'ataxie et dégénérescence tapétorétinienne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5777851000241119 syndrome d'ataxie et dégénérescence tapétorétinienne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3437691001000116 Ataxie mit tapetoretinaler Degeneration 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
Ataxia with tapetoretinal degeneration syndrome Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia with tapetoretinal degeneration syndrome Is a Hereditary ataxia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia with tapetoretinal degeneration syndrome Is a Cerebellar ataxia true Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia with tapetoretinal degeneration syndrome Is a Chorioretinal degeneration (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia with tapetoretinal degeneration syndrome Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia with tapetoretinal degeneration syndrome Finding site Peripheral retina true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ataxia with tapetoretinal degeneration syndrome Finding site Cerebellar structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ataxia with tapetoretinal degeneration syndrome Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ataxia with tapetoretinal degeneration syndrome Finding site Retinal structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ataxia with tapetoretinal degeneration syndrome Associated morphology Atrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ataxia with tapetoretinal degeneration syndrome Finding site Choroidal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ataxia with tapetoretinal degeneration syndrome Is a Atrophic retina (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia with tapetoretinal degeneration syndrome Is a Peripheral retinal degeneration true Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia with tapetoretinal degeneration syndrome 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

Description inactivation indicator reference set

GB English

US English

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