Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3705165013 | Infantile epileptic dyskinetic encephalopathy (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3705166014 | Infantile epileptic dyskinetic encephalopathy | en | Synonym | Active | Case insensitive | SNOMED CT core |
3705169019 | A monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability. Caused by mutation in the aristaless-related homeobox gene (ARX) on chromosome Xp21. | en | Definition | Active | Case sensitive | SNOMED CT core |
3705170018 | A monogenic disease with epilepsy characterised by developmental delay and infantile spasms in the first months of life, followed by chorea and generalised dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability. Caused by mutation in the aristaless-related homeobox gene (ARX) on chromosome Xp21. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Infantile epileptic dyskinetic encephalopathy | Interprets | Movement | true | Inferred relationship | Some | 3 | |
Infantile epileptic dyskinetic encephalopathy | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
Infantile epileptic dyskinetic encephalopathy | Finding site | Extrapyramidal system structure | true | Inferred relationship | Some | 1 | |
Infantile epileptic dyskinetic encephalopathy | Is a | Dystonia | true | Inferred relationship | Some | ||
Infantile epileptic dyskinetic encephalopathy | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
Infantile epileptic dyskinetic encephalopathy | Finding site | Structure of cerebrum | true | Inferred relationship | Some | 2 | |
Infantile epileptic dyskinetic encephalopathy | Is a | Epileptic encephalopathy | true | Inferred relationship | Some | ||
Infantile epileptic dyskinetic encephalopathy | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Queensland allied health clinical finding reference set
Queensland allied health indicator for intervention reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set