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715751004: ataxie spinocérébelleuse type 2 (trouble)


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
3303604015 Spinocerebellar ataxia type 2 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303605019 Spinocerebellar ataxia type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
748461000241116 ataxie spinocérébelleuse type 2 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
874201000172115 SCA2 - spinocerebellar ataxia type 2 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
969111000172112 ataxie spinocérébelleuse type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3303606018 Main features described as truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. Presents in the third or fourth decade, Parkinsonism is also a less common but well-documented manifestation. There is no distinct clinical feature that reliably distinguishes type 1 from type 2 although tremor and autonomic dysfunction are more common in type 2. 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
Spinocerebellar ataxia type 2 (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 2
Spinocerebellar ataxia type 2 (disorder) localisation d'une constatation (attribut) structure cérébelleuse true Inferred relationship Some 2
Spinocerebellar ataxia type 2 (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1
Spinocerebellar ataxia type 2 (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 2 (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 2 (disorder) est un(e) (attribut) Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 2 (disorder) est un(e) (attribut) ataxie spinocérébelleuse dominante true Inferred relationship Some
Spinocerebellar ataxia type 2 (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 2
Spinocerebellar ataxia type 2 (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 3
Spinocerebellar ataxia type 2 (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) false Inferred relationship Some 2
Spinocerebellar ataxia type 2 (disorder) localisation d'une constatation (attribut) structure cérébelleuse false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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