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 |
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)