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718771009: Spinocerebellar ataxia type 20 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3313801017 Spinocerebellar ataxia type 20 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313802012 Spinocerebellar ataxia type 20 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401871018 Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar dysarthria as the initial typical manifestation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401872013 Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterised by cerebellar dysarthria as the initial typical manifestation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3313801017 Spinocerebellar ataxia type 20 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3313801017 Spinocerebellar ataxia type 20 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313802012 Spinocerebellar ataxia type 20 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3313802012 Spinocerebellar ataxia type 20 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313807018 A very rare subtype of type I autosomal dominant cerebellar ataxia with cerebellar dysarthria as the initial typical manifestation. Prevalence is unknown. Fewer than 20 cases in a 4-generation Australian family of Anglo-Celtic descent have been reported to date. Age of symptomatic disease onset ranges from 19 to 64 years. Linked to chromosome 11q12.2-11q12.3. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401871018 Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar dysarthria as the initial typical manifestation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401872013 Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterised by cerebellar dysarthria as the initial typical manifestation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3394181001000118 Ataxie, spinozerebelläre, Typ 20 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
925891000172116 SCA20 - spinocerebellar ataxia type 20 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
992571000172116 ataxie spinocérébelleuse type 20 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
925891000172116 SCA20 - spinocerebellar ataxia type 20 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
992571000172116 ataxie spinocérébelleuse type 20 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3394181001000118 Ataxie, spinozerebelläre, Typ 20 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 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar dysarthria as the initial typical manifestation. Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar dysarthria as the initial typical manifestation. Is a Hereditary cerebellar degeneration false Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar dysarthria as the initial typical manifestation. Is a Spinocerebellar ataxia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar dysarthria as the initial typical manifestation. Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar dysarthria as the initial typical manifestation. Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 3
Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar dysarthria as the initial typical manifestation. Finding site Cerebellar structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar dysarthria as the initial typical manifestation. Finding site Spinal cord structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar dysarthria as the initial typical manifestation. Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar dysarthria as the initial typical manifestation. Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar dysarthria as the initial typical manifestation. 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

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

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