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 |
| 3307239012 | Female restricted epilepsy with intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3307271017 | Female restricted epilepsy with intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3307272012 | A rare X-linked genetic epilepsy syndrome affecting females. The syndrome has characteristics of seizures starting in the first years of life and intellectual disability and may resemble Dravet syndrome. In families with this disease, male carriers are unaffected despite the X-linked inheritance. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Female restricted epilepsy with intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Female restricted epilepsy with intellectual disability syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Female restricted epilepsy with intellectual disability syndrome (disorder) | est un(e) (attribut) | Epilepsy | true | Inferred relationship | Some | ||
| Female restricted epilepsy with intellectual disability syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
| Female restricted epilepsy with intellectual disability syndrome (disorder) | est un(e) (attribut) | X-linked hereditary disease | true | Inferred relationship | Some | ||
| Female restricted epilepsy with intellectual disability syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Female restricted epilepsy with intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | structure du cerveau | true | Inferred relationship | Some | 2 | |
| Female restricted epilepsy with intellectual disability syndrome (disorder) | est défini par la manifestation de (attribut) | convulsion | false | Inferred relationship | Some | ||
| Female restricted epilepsy with intellectual disability syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada French language reference set (foundation metadata concept)
FHIR