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 |
| 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 | Entire term case sensitive (core metadata concept) | 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 | 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 |
This concept is not in any reference sets
FHIR