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715748006: Spinocerebellar ataxia type 1 (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
5401069017 Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401070016 Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia characterised by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303595015 Spinocerebellar ataxia type 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303596019 Spinocerebellar ataxia type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
913041000172114 SCA1 - spinocerebellar ataxia type 1 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
969401000172118 ataxie spinocérébelleuse type 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3426981001000111 Ataxie, spinozerebelläre, Typ 1 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 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. Associated morphology dégénérescence false Inferred relationship Some 2
Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. Associated morphology dégénérescence false Inferred relationship Some 3
Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. Finding site Spinal cord structure false Inferred relationship Some 2
Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. Finding site Cerebellar structure false Inferred relationship Some 3
Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. Finding site Cerebellar structure true Inferred relationship Some 2
Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. Finding site Spinal cord structure true Inferred relationship Some 1
Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. Associated morphology Degenerative abnormality true Inferred relationship Some 2
Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. Associated morphology Degenerative abnormality true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar ataxia, tremor and cognitive impairment. Is a False Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. Inferred relationship Some

Reference Sets

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

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