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 |
| 3308719012 | X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3308720018 | X-linked epilepsy with learning disability and behavior disorder syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3308721019 | X-linked epilepsy with learning disability and behaviour disorder syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3308722014 | This syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behavior. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3308723016 | This syndrome is characterised by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) | Is a | Developmental academic disorder | true | Inferred relationship | Some | ||
| X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) | Is a | Disruptive behavior disorder | true | Inferred relationship | Some | ||
| X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) | Is a | Epilepsy | true | Inferred relationship | Some | ||
| X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) | Finding site | Cerebrum | true | Inferred relationship | Some | 1 | |
| X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) | Has definitional manifestation | Seizure | false | Inferred relationship | Some | ||
| X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| X-linked epilepsy with learning disability and behavior disorder syndrome (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
FHIR