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715755008: Spinocerebellar ataxia type 4 (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
3303616014 Spinocerebellar ataxia type 4 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303617017 Spinocerebellar ataxia type 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303618010 A very rare progressive and untreatable disease with manifestations of ataxia with sensory neuropathy. Prevalence is unknown, typically starts in middle-aged adults and presents with cerebellar ataxia, pyramidal signs, and peripheral sensory loss. The disease has been linked to chromosome 16q22.1 in kindreds from Utah (USA) and Germany but the mutation is yet unknown and does not appear to involve trinucleotide repeats. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5401079015 Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia characterized by ataxia with sensory neuropathy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401080017 Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia characterised by ataxia with sensory neuropathy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spinocerebellar ataxia type 4 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 4 (disorder) Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 4 (disorder) Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 4 (disorder) Associated morphology Degeneration false Inferred relationship Some 2
Spinocerebellar ataxia type 4 (disorder) Associated morphology Degeneration false Inferred relationship Some 3
Spinocerebellar ataxia type 4 (disorder) Finding site Spinal cord structure false Inferred relationship Some 2
Spinocerebellar ataxia type 4 (disorder) Finding site Cerebellar structure false Inferred relationship Some 3
Spinocerebellar ataxia type 4 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 2
Spinocerebellar ataxia type 4 (disorder) Finding site Cerebellar structure true Inferred relationship Some 2
Spinocerebellar ataxia type 4 (disorder) Finding site Spinal cord structure true Inferred relationship Some 1
Spinocerebellar ataxia type 4 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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