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715826005: Spinocerebellar ataxia type 31 (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
3303836013 Spinocerebellar ataxia type 31 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303837016 Spinocerebellar ataxia type 31 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401128012 An autosomal dominant cerebellar ataxia type III that is characterized by the late onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401129016 An autosomal dominant cerebellar ataxia type III that is characterised by the late onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303836013 Spinocerebellar ataxia type 31 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303836013 Spinocerebellar ataxia type 31 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303837016 Spinocerebellar ataxia type 31 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303837016 Spinocerebellar ataxia type 31 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303838014 Spinocerebellar ataxia type 31 (SCA31) is a very rare disease with manifestation of late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties. The mean age of disease onset is 58 years but it can present between the ages of 8 to 83 years. SCA31 is due to non-coding pentanucleotide repeat expansions in the brain expressed, associated with NEDD4, 1 (BEAN1) gene (16q21). Inherited autosomal dominantly with incomplete penetrance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401128012 An autosomal dominant cerebellar ataxia type III that is characterized by the late onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401129016 An autosomal dominant cerebellar ataxia type III that is characterised by the late onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3430421001000115 Ataxie, spinozerebelläre, Typ 31 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
936901000172113 SCA31 - spinocerebellar ataxia type 31 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
947381000172118 ataxie spinocérébelleuse type 31 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
936901000172113 SCA31 - spinocerebellar ataxia type 31 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
947381000172118 ataxie spinocérébelleuse type 31 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3430421001000115 Ataxie, spinozerebelläre, Typ 31 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
An autosomal dominant cerebellar ataxia type III that is characterized by the late onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
An autosomal dominant cerebellar ataxia type III that is characterized by the late onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. Is a Hereditary cerebellar degeneration false Inferred relationship Existential restriction modifier (core metadata concept)
An autosomal dominant cerebellar ataxia type III that is characterized by the late onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. Is a Spinocerebellar ataxia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
An autosomal dominant cerebellar ataxia type III that is characterized by the late onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 2
An autosomal dominant cerebellar ataxia type III that is characterized by the late onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. Finding site Spinal cord structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
An autosomal dominant cerebellar ataxia type III that is characterized by the late onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 3
An autosomal dominant cerebellar ataxia type III that is characterized by the late onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. Finding site Cerebellar structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
An autosomal dominant cerebellar ataxia type III that is characterized by the late onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
An autosomal dominant cerebellar ataxia type III that is characterized by the late onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
An autosomal dominant cerebellar ataxia type III that is characterized by the late onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
An autosomal dominant cerebellar ataxia type III that is characterized by the late onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. Finding site Cerebellar structure (body structure) 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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