Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3743656019 | SYNGAP1-related intellectual disability | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3743657011 | Synaptic Ras GTPase activating protein 1- related intellectual disability (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3743658018 | Synaptic Ras GTPase activating protein 1- related intellectual disability | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3743659014 | A neurological disorder with characteristics of moderate to severe intellectual disability that is evident in early childhood. Early manifestations include delayed development of speech and motor skills, hypotonia, developmental regression, recurrent epilepsy, hyperactivity and autism spectrum disorder. Caused by mutations in the SYNGAP1 gene preventing the production of functional SynGAP protein from one copy of the gene which results in reduced protein activity in cells. May be inherited in an autosomal dominant manner or as a new mutation in the gene. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4218961000052117 | SYNGAP1-relaterad intellektuell funktionsnedsättning | sv | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| SYNGAP1-related intellectual disability | Is a | Childhood seizure (finding) | true | Inferred relationship | Some | ||
| SYNGAP1-related intellectual disability | Occurrence | Early childhood (qualifier value) | true | Inferred relationship | Some | 1 | |
| SYNGAP1-related intellectual disability | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| SYNGAP1-related intellectual disability | Is a | Epilepsy | true | Inferred relationship | Some | ||
| SYNGAP1-related intellectual disability | Finding site | Cerebrum | true | Inferred relationship | Some | 1 | |
| SYNGAP1-related intellectual disability | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
| SYNGAP1-related intellectual disability | Is a | Mental disorder in childhood | true | Inferred relationship | Some | ||
| SYNGAP1-related intellectual disability | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR