Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3686408013 | STXBP1-related early-onset encephalopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3686409017 | Syntaxin binding protein 1 encephalopathy with epilepsy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3686410010 | STXBP1 encephalopathy with epilepsy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3686411014 | STXBP1 (syntaxin binding protein 1) epileptic encephalopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3686412019 | Syntaxin binding protein 1 encephalopathy with epilepsy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3686413012 | Early infantile epileptic encephalopathy 4 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3686414018 | STXBP1-related epileptic encephalopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Syntaxin binding protein 1 encephalopathy with epilepsy (disorder) | Occurrence | Infancy | true | Inferred relationship | Some | 1 | |
| Syntaxin binding protein 1 encephalopathy with epilepsy (disorder) | Finding site | Cerebrum | true | Inferred relationship | Some | 1 | |
| Syntaxin binding protein 1 encephalopathy with epilepsy (disorder) | Is a | Early infantile epileptic encephalopathy with suppression bursts | true | Inferred relationship | Some | ||
| Syntaxin binding protein 1 encephalopathy with epilepsy (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 2 | |
| Syntaxin binding protein 1 encephalopathy with epilepsy (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR