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 |
| 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 |
| 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 |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR