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715751004: Spinocerebellar ataxia type 2 (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
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
5401071017 Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401072012 Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia characterised by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303604015 Spinocerebellar ataxia type 2 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
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
5401071017 Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401072012 Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia characterised by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3395811001000116 Ataxie, spinozerebelläre, Typ 2 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
874201000172115 SCA2 - spinocerebellar ataxia type 2 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
969111000172112 ataxie spinocérébelleuse type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
874201000172115 SCA2 - spinocerebellar ataxia type 2 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
969111000172112 ataxie spinocérébelleuse type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3395811001000116 Ataxie, spinozerebelläre, Typ 2 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
Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia characterised by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia characterised by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. Is a Hereditary cerebellar degeneration false Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia characterised by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. Is a Spinocerebellar ataxia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia characterised by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia characterised by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 3
Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia characterised by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. Finding site Spinal cord structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia characterised by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. Finding site Cerebellar structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia characterised by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia characterised by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. Finding site Cerebellar structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia characterised by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia characterised by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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