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 |
3318013012 | X-linked spinocerebellar ataxia type 3 (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3318014018 | X-linked spinocerebellar ataxia type 3 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3318019011 | X-linked ataxia deafness syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3318020017 | This syndrome is a form of spinocerebellar degeneration with onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia and optic atrophy and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
940511000172115 | ataxie spinocérébelleuse liée à l'X type 3 | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
1015451000172113 | SCAX3 - X-linked spinocerebellar ataxia type 3 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
906981000172114 | SCAX3 - spinocerebellaire ataxie type 3, X-gebonden | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
947481000172112 | X-gebonden spinocerebellaire ataxie type 3 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
X-linked spinocerebellar ataxia type 3 (disorder) | Is a | Hereditary cerebellar degeneration | false | Inferred relationship | Some | ||
X-linked spinocerebellar ataxia type 3 (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
X-linked spinocerebellar ataxia type 3 (disorder) | Is a | Spinocerebellar ataxia | true | Inferred relationship | Some | ||
X-linked spinocerebellar ataxia type 3 (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 2 | |
X-linked spinocerebellar ataxia type 3 (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 3 | |
X-linked spinocerebellar ataxia type 3 (disorder) | Finding site | Cerebellar structure | true | Inferred relationship | Some | 2 | |
X-linked spinocerebellar ataxia type 3 (disorder) | Finding site | Spinal cord structure | false | Inferred relationship | Some | 3 | |
X-linked spinocerebellar ataxia type 3 (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
X-linked spinocerebellar ataxia type 3 (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 2 | |
X-linked spinocerebellar ataxia type 3 (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
X-linked spinocerebellar ataxia type 3 (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
X-linked spinocerebellar ataxia type 3 (disorder) | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
X-linked spinocerebellar ataxia type 3 (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 3 | |
X-linked spinocerebellar ataxia type 3 (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 4 | |
X-linked spinocerebellar ataxia type 3 (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets