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 |
| 3314126017 | X-linked neurodegenerative syndrome Bertini type (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3314127014 | X-linked neurodegenerative syndrome Bertini type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3314128016 | This syndrome is characterised by generalised hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3314129012 | This syndrome is characterized by generalized hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked neurodegenerative syndrome Bertini type (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked neurodegenerative syndrome Bertini type (disorder) | Is a | Degenerative disorder | true | Inferred relationship | Some | ||
| X-linked neurodegenerative syndrome Bertini type (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| X-linked neurodegenerative syndrome Bertini type (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 1 | |
| X-linked neurodegenerative syndrome Bertini type (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 1 | |
| X-linked neurodegenerative syndrome Bertini type (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| X-linked neurodegenerative syndrome Bertini type (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| X-linked neurodegenerative syndrome Bertini type (disorder) | Is a | Congenital disease (disorder) | true | Inferred relationship | Some | ||
| X-linked neurodegenerative syndrome Bertini type (disorder) | Is a | Hereditary ataxia (disorder) | true | Inferred relationship | Some | ||
| X-linked neurodegenerative syndrome Bertini type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR