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 |
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)