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