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) | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3686409017 | Syntaxin binding protein 1 encephalopathy with epilepsy (disorder) | en | Fully specified name | Inactive | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3686410010 | STXBP1 encephalopathy with epilepsy | en | Synonym (core metadata concept) | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3686411014 | STXBP1 (syntaxin binding protein 1) epileptic encephalopathy | en | Synonym (core metadata concept) | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3686412019 | Syntaxin binding protein 1 encephalopathy with epilepsy | en | Synonym (core metadata concept) | Inactive | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3686413012 | Early infantile epileptic encephalopathy 4 | en | Synonym (core metadata concept) | Inactive | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3686414018 | STXBP1-related epileptic encephalopathy | en | Synonym (core metadata concept) | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5443832011 | STXBP1 developmental and epileptic encephalopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5443833018 | Syntaxin binding protein 1 developmental and epileptic encephalopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5443834012 | Syntaxin binding protein 1 developmental and epileptic encephalopathy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5443835013 | STXBP1-DEE - STXBP1 developmental and 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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404741017 | A rare genetic neurological disorder characterized by a phenotypic spectrum comprising severe intellectual disability, developmental delay, and, in the majority of cases, early-onset epilepsy. The most frequent seizure type are epileptic spasms, but a broad spectrum of seizure types has been reported. Motor disturbances include ataxia, hypotonia, dystonia, tremor, spasticity, and dyskinesia. Some patients may also present with autism/autistic-like features. Older patients have been reported to show signs of parkinsonism, including tremor, bradykinesia, and antecollis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404742012 | A rare genetic neurological disorder characterised by a phenotypic spectrum comprising severe intellectual disability, developmental delay, and, in the majority of cases, early-onset epilepsy. The most frequent seizure type are epileptic spasms, but a broad spectrum of seizure types has been reported. Motor disturbances include ataxia, hypotonia, dystonia, tremor, spasticity, and dyskinesia. Some patients may also present with autism/autistic-like features. Older patients have been reported to show signs of parkinsonism, including tremor, bradykinesia, and antecollis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| STXBP1 developmental and epileptic encephalopathy | Occurrence | Infancy | true | Inferred relationship | Some | 1 | |
| STXBP1 developmental and epileptic encephalopathy | Finding site | Cerebrum | false | Inferred relationship | Some | 1 | |
| STXBP1 developmental and epileptic encephalopathy | Is a | Early infantile epileptic encephalopathy with suppression bursts | false | Inferred relationship | Some | ||
| STXBP1 developmental and epileptic encephalopathy | Finding site | Brain structure | false | Inferred relationship | Some | 2 | |
| STXBP1 developmental and epileptic encephalopathy | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
| STXBP1 developmental and epileptic encephalopathy | Is a | Developmental and epileptic encephalopathy | true | Inferred relationship | Some | ||
| STXBP1 developmental and epileptic encephalopathy | Finding site | Brain structure | true | Inferred relationship | Some | 1 | |
| STXBP1 developmental and epileptic encephalopathy | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR