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734021001: Spinocerebellar ataxia type 38 (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3481925014 Spinocerebellar ataxia type 38 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3481926010 Spinocerebellar ataxia type 38 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403865017 Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403866016 Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterised by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3481925014 Spinocerebellar ataxia type 38 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3481926010 Spinocerebellar ataxia type 38 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3481927018 Disease with characteristics of the adult-onset (average age 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403865017 Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403866016 Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterised by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3431171001000118 Ataxie, spinozerebelläre, Typ 38 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
873741000172113 ataxie spinocérébelleuse type 38 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
968611000172111 SCA38 - spinocerebellar ataxia type 38 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
873741000172113 ataxie spinocérébelleuse type 38 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
968611000172111 SCA38 - spinocerebellar ataxia type 38 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3431171001000118 Ataxie, spinozerebelläre, Typ 38 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 38 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 38 (disorder) Is a Hereditary cerebellar degeneration false Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 38 (disorder) Is a Spinocerebellar ataxia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 38 (disorder) Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 38 (disorder) Finding site Cerebellar structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 38 (disorder) Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 3
Spinocerebellar ataxia type 38 (disorder) Finding site Spinal cord structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Spinocerebellar ataxia type 38 (disorder) Finding site Cerebellar structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 38 (disorder) Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 38 (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 38 (disorder) 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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