Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3686408013 | STXBP1-related early-onset encephalopathy | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3686409017 | Syntaxin binding protein 1 encephalopathy with epilepsy (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3686410010 | STXBP1 encephalopathy with epilepsy | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3686411014 | STXBP1 (syntaxin binding protein 1) epileptic encephalopathy | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3686412019 | Syntaxin binding protein 1 encephalopathy with epilepsy | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3686413012 | Early infantile epileptic encephalopathy 4 | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3686414018 | STXBP1-related epileptic encephalopathy | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3686416016 | Disorder with characteristics of recurrent seizures, encephalopathy, and intellectual disability with typical onset in infancy. In most cases, seizures cease by age one, however the other neurological symptoms persist. The most common seizures are infantile spasms, however other seizure types associated with this disease include myoclonic seizures, atonic seizures, absence seizures, tonic-clonic seizures. Most individuals have more than one type of seizure and they may be refractory. Caused by mutations in the STXBP1 gene. STXBP1 gene mutations reduce the amount of functional protein produced which impairs the release of neurotransmitters from neurons, a change in levels may result in seizures. Inherited in an autosomal dominant pattern however most cases result from de novo mutations. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Syntaxin binding protein 1 encephalopathy with epilepsy | Occurrence | Infancy | true | Inferred relationship | Some | 1 | |
| Syntaxin binding protein 1 encephalopathy with epilepsy | Finding site | Structure of cerebrum | true | Inferred relationship | Some | 1 | |
| Syntaxin binding protein 1 encephalopathy with epilepsy | Is a | Early infantile epileptic encephalopathy with suppression bursts | 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
FHIR