Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5048332018 | Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5048333011 | SYNGAP1-related developmental and epileptic encephalopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5048334017 | Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5399986014 | A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399987017 | A rare genetic developmental and epileptic encephalopathy (DEE) characterised by developmental delay, generalised epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) | Is a | Epileptic encephalopathy (disorder) | false | Inferred relationship | Some | ||
| Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) | Finding site | Cerebrum | false | Inferred relationship | Some | 1 | |
| Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 4 | |
| Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 2 | |
| Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) | Is a | Developmental and epileptic encephalopathy | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR