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 |
| 3314120011 | X-linked neurodegenerative syndrome Hamel type (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3314121010 | X-linked neurodegenerative syndrome Hamel type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3314122015 | This syndrome is an X-linked neurodegenerative disorder with characteristics of intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3928501000052116 | X-bundet neurodegenerativt syndrom, Hameltyp | sv | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked neurodegenerative syndrome Hamel type (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked neurodegenerative syndrome Hamel type (disorder) | Is a | Degenerative disorder | true | Inferred relationship | Some | ||
| X-linked neurodegenerative syndrome Hamel type (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| X-linked neurodegenerative syndrome Hamel type (disorder) | Associated morphology | degeneration | false | Inferred relationship | Some | 1 | |
| X-linked neurodegenerative syndrome Hamel type (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 1 | |
| X-linked neurodegenerative syndrome Hamel type (disorder) | Associated morphology | Degenerative abnormality (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| X-linked neurodegenerative syndrome Hamel type (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| X-linked neurodegenerative syndrome Hamel type (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| X-linked neurodegenerative syndrome Hamel type (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| X-linked neurodegenerative syndrome Hamel type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR