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718769009: Spinocerebellar ataxia type 26 (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
3313795014 Spinocerebellar ataxia type 26 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313796010 Spinocerebellar ataxia type 26 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401867016 A very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401868014 A very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterised by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3313795014 Spinocerebellar ataxia type 26 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3313795014 Spinocerebellar ataxia type 26 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313796010 Spinocerebellar ataxia type 26 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3313796010 Spinocerebellar ataxia type 26 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313797018 A very rare subtype of autosomal dominant cerebellar ataxia type 3 with characteristics of late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. To date, only 23 affected patients have been described from one American family of Norwegian descent. Disease onset occurs between the ages of 26-60. A candidate gene has recently been identified as the eukaryotic translation elongation factor 2 (EEF2) gene, located on chromosome 19p13.3. Inherited autosomal dominantly. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401867016 A very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401868014 A very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterised by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3448761001000115 Ataxie, spinozerebelläre, Typ 26 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
912961000172118 SCA26 - spinocerebellar ataxia type 26 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
982571000172115 ataxie spinocérébelleuse type 26 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
912961000172118 SCA26 - spinocerebellar ataxia type 26 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
982571000172115 ataxie spinocérébelleuse type 26 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3448761001000115 Ataxie, spinozerebelläre, Typ 26 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 26 Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 26 Is a Hereditary cerebellar degeneration false Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 26 Is a Spinocerebellar ataxia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 26 Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 26 Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 3
Spinocerebellar ataxia type 26 Finding site Cerebellar structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 26 Finding site Spinal cord structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Spinocerebellar ataxia type 26 Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 26 Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 26 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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