Status: current, Primitive. 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 | Initial character case insensitive | SNOMED CT core |
| 5048333011 | SYNGAP1-related developmental and epileptic encephalopathy | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 5048334017 | Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 5048335016 | A rare genetic developmental and epileptic encephalopathy with characteristics of developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD). The SYNGAP1 gene (6p21.32) encodes the synaptic Ras-GTPase-activating protein 1, mainly expressed in the synapses of excitatory neurons. Loss of function mutations in SYNGAP1 impairs neuronal homeostasis and development. This disorder is caused by heterozygous pathogenic SYNGAP1 variants or chromosome 6p21.32 microdeletions encompassing the SYNGAP1 gene. The pattern of inheritance is autosomal dominant. | en | Definition | Active | Case sensitive | SNOMED CT core |
| 5048336015 | A rare genetic developmental and epileptic encephalopathy with characteristics of developmental delay, generalised epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD). The SYNGAP1 gene (6p21.32) encodes the synaptic Ras-GTPase-activating protein 1, mainly expressed in the synapses of excitatory neurons. Loss of function mutations in SYNGAP1 impairs neuronal homeostasis and development. This disorder is caused by heterozygous pathogenic SYNGAP1 variants or chromosome 6p21.32 microdeletions encompassing the SYNGAP1 gene. The pattern of inheritance is autosomal dominant. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| SYNGAP1-related developmental and epileptic encephalopathy | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| SYNGAP1-related developmental and epileptic encephalopathy | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| SYNGAP1-related developmental and epileptic encephalopathy | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| SYNGAP1-related developmental and epileptic encephalopathy | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| SYNGAP1-related developmental and epileptic encephalopathy | Is a | Epileptic encephalopathy | true | Inferred relationship | Some | ||
| SYNGAP1-related developmental and epileptic encephalopathy | Finding site | Structure of cerebrum | true | Inferred relationship | Some | 1 | |
| SYNGAP1-related developmental and epileptic encephalopathy | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| SYNGAP1-related developmental and epileptic encephalopathy | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 3 | |
| SYNGAP1-related developmental and epileptic encephalopathy | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| SYNGAP1-related developmental and epileptic encephalopathy | Interprets | Intellectual ability | true | Inferred relationship | Some | 4 | |
| SYNGAP1-related developmental and epileptic encephalopathy | Has interpretation | Impaired | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR