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 |
| 3314655012 | X-linked intellectual disability Wilson type (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3314656013 | X-linked intellectual disability Wilson type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401911013 | X-linked intellectual disability, Wilson type is characterized by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localized to the 11p region of the X chromosome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401912018 | X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked intellectual disability Wilson type (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
| X-linked intellectual disability Wilson type (disorder) | Is a | X-linked hereditary disease | true | Inferred relationship | Some | ||
| X-linked intellectual disability Wilson type (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| X-linked intellectual disability Wilson type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability Wilson type (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| X-linked intellectual disability Wilson type (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability Wilson type (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability Wilson type (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| X-linked intellectual disability Wilson type (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR