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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
10017291000172119 syndrome d'ataxie et dégénérescence tapétorétinienne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4306801000172113 ataxie met syndroom van tapetoretinale degeneratie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4306811000172111 ataxie met syndroom van retinitis pigmentosa nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


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 Some
Ataxia with tapetoretinal degeneration syndrome Is a Hereditary ataxia (disorder) true Inferred relationship Some
Ataxia with tapetoretinal degeneration syndrome Is a Cerebellar ataxia true Inferred relationship Some
Ataxia with tapetoretinal degeneration syndrome Is a Chorioretinal degeneration true Inferred relationship Some
Ataxia with tapetoretinal degeneration syndrome Is a Hereditary disorder of nervous system false Inferred relationship Some
Ataxia with tapetoretinal degeneration syndrome Finding site Peripheral retina true Inferred relationship Some 1
Ataxia with tapetoretinal degeneration syndrome Finding site Cerebellar structure true Inferred relationship Some 3
Ataxia with tapetoretinal degeneration syndrome Associated morphology Degeneration false Inferred relationship Some 2
Ataxia with tapetoretinal degeneration syndrome Finding site Retinal structure false Inferred relationship Some 2
Ataxia with tapetoretinal degeneration syndrome Associated morphology Atrophy true Inferred relationship Some 1
Ataxia with tapetoretinal degeneration syndrome Finding site Choroidal structure true Inferred relationship Some 2
Ataxia with tapetoretinal degeneration syndrome Is a Atrophic retina (disorder) true Inferred relationship Some
Ataxia with tapetoretinal degeneration syndrome Is a Peripheral retinal degeneration true Inferred relationship Some
Ataxia with tapetoretinal degeneration syndrome Associated morphology Degenerative abnormality true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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