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719210007: Spinocerebellar ataxia type 14 (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
5402011013 Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia. It is characterized by slowly progressive ataxia, dysarthria and nystagmus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402012018 Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia. It is characterised by slowly progressive ataxia, dysarthria and nystagmus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3315426017 Spinocerebellar ataxia type 14 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315427014 Spinocerebellar ataxia type 14 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
889281000172119 SCA14 - spinocerebellar ataxia type 14 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1014791000172112 ataxie spinocérébelleuse type 14 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3423041001000113 Ataxie, spinozerebelläre, Typ 14 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 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia. It is characterized by slowly progressive ataxia, dysarthria and nystagmus. Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia. It is characterized by slowly progressive ataxia, dysarthria and nystagmus. Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia. It is characterized by slowly progressive ataxia, dysarthria and nystagmus. Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia. It is characterized by slowly progressive ataxia, dysarthria and nystagmus. Associated morphology dégénérescence false Inferred relationship Some 2
Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia. It is characterized by slowly progressive ataxia, dysarthria and nystagmus. Associated morphology dégénérescence false Inferred relationship Some 3
Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia. It is characterized by slowly progressive ataxia, dysarthria and nystagmus. Finding site Cerebellar structure true Inferred relationship Some 2
Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia. It is characterized by slowly progressive ataxia, dysarthria and nystagmus. Finding site Spinal cord structure false Inferred relationship Some 3
Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia. It is characterized by slowly progressive ataxia, dysarthria and nystagmus. Finding site Spinal cord structure true Inferred relationship Some 1
Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia. It is characterized by slowly progressive ataxia, dysarthria and nystagmus. Associated morphology Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia. It is characterized by slowly progressive ataxia, dysarthria and nystagmus. Associated morphology Degenerative abnormality true Inferred relationship Some 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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