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Packageuk.nhsengland.genomics.r4
Resource TypeGraphDefinition
IdGraphDefinition-Genomics-TrioResultGrouping-Example.json
FHIR VersionR4
Sourcehttps://simplifier.net/resolve?scope=uk.nhsengland.genomics.r4@0.5.2&canonical=https://fhir.nhs.uk/GraphDefinition/genomics-trio-result-grouping
URLhttps://fhir.nhs.uk/GraphDefinition/genomics-trio-result-grouping
Version0.1.0
Statusdraft
Date2026-01-13
NameGenomicsTrioResultGrouping
DescriptionGraphDefinition for retrieving all DiagnosticReports and related resources for a genomic trio test, starting from a RequestGroup that links the trio.

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Source1

{
  "resourceType": "GraphDefinition",
  "id": "GraphDefinition-Genomics-TrioResultGrouping-Example",
  "url": "https://fhir.nhs.uk/GraphDefinition/genomics-trio-result-grouping",
  "name": "GenomicsTrioResultGrouping",
  "version": "0.1.0",
  "status": "draft",
  "date": "2026-01-13",
  "publisher": "NHS England",
  "description": "GraphDefinition for retrieving all DiagnosticReports and related resources for a genomic trio test, starting from a RequestGroup that links the trio.",
  "start": "RequestGroup",
  "link": [
    {
      "path": "RequestGroup.action.resource",
      "description": "Link to ServiceRequests for each member of the trio",
      "min": 1,
      "max": "*",
      "target": [
        {
          "type": "ServiceRequest",
          "link": [
            {
              "description": "DiagnosticReport(s) generated from this ServiceRequest",
              "min": 0,
              "max": "*",
              "target": [
                {
                  "type": "DiagnosticReport",
                  "params": "basedOn={ref}",
                  "link": [
                    {
                      "path": "DiagnosticReport.extension.valueReference",
                      "sliceName": "recommended-action",
                      "description": "Further actions recommended by the report",
                      "min": 0,
                      "max": "*",
                      "target": [
                        {
                          "type": "Task"
                        }
                      ]
                    },
                    {
                      "path": "DiagnosticReport.extension.valueReference",
                      "sliceName": "genomic-study",
                      "description": "The set of analyses performed to generate/analyse the genomic data",
                      "min": 0,
                      "max": "*",
                      "target": [
                        {
                          "type": "Procedure",
                          "link": [
                            {
                              "path": "Procedure.extension.valueReference",
                              "sliceName": "genomic-study-analysis",
                              "description": "Component of genomic study",
                              "min": 0,
                              "max": "*",
                              "target": [
                                {
                                  "type": "Procedure"
                                }
                              ]
                            }
                          ]
                        }
                      ]
                    },
                    {
                      "path": "DiagnosticReport.extension.valueReference",
                      "sliceName": "supporting-info",
                      "description": "Supporting Info references, used to capture clinical information and references to Genomic Data Files",
                      "min": 0,
                      "max": "*",
                      "target": [
                        {
                          "type": "DocumentReference"
                        },
                        {
                          "type": "Resource"
                        }
                      ]
                    },
                    {
                      "path": "DiagnosticReport.subject",
                      "description": "Link to the patient the report is concerning",
                      "min": 1,
                      "max": "1",
                      "target": [
                        {
                          "type": "Patient"
                        }
                      ]
                    },
                    {
                      "path": "DiagnosticReport.basedOn",
                      "description": "ServiceRequest(s) that this report is based on",
                      "min": 1,
                      "max": "*",
                      "target": [
                        {
                          "type": "ServiceRequest"
                        }
                      ]
                    },
                    {
                      "path": "DiagnosticReport.specimen",
                      "description": "Link to the specimens used during testing to generate the report",
                      "min": 0,
                      "max": "*",
                      "target": [
                        {
                          "type": "Specimen",
                          "link": [
                            {
                              "path": "Specimen.subject",
                              "description": "Link to the patient the specimen is from",
                              "min": 1,
                              "max": "1",
                              "target": [
                                {
                                  "type": "Patient"
                                }
                              ]
                            },
                            {
                              "path": "Specimen.parent",
                              "description": "Link to parent specimen resource",
                              "min": 0,
                              "max": "1",
                              "target": [
                                {
                                  "type": "Specimen"
                                }
                              ]
                            },
                            {
                              "path": "Specimen.collection.collector",
                              "description": "Link to collector of the specimen",
                              "min": 0,
                              "max": "1",
                              "target": [
                                {
                                  "type": "PractitionerRole"
                                }
                              ]
                            },
                            {
                              "path": "Specimen.collection.bodySite.extension.valueReference",
                              "sliceName": "bodySiteReference",
                              "description": "Link to the body structure detailing the morphology and topography of the specimen",
                              "min": 0,
                              "max": "1",
                              "target": [
                                {
                                  "type": "BodyStructure"
                                }
                              ]
                            }
                          ]
                        }
                      ]
                    },
                    {
                      "path": "DiagnosticReport.result",
                      "description": "Links to Observations forming the results reported in the DiagnosticReport",
                      "min": 0,
                      "max": "*",
                      "target": [
                        {
                          "type": "Observation",
                          "link": [
                            {
                              "path": "Observation.performer",
                              "description": "Optional link to actor who performed the observation (could be Patient, PractitionerRole or RelatedPerson)",
                              "min": 0,
                              "max": "1",
                              "target": [
                                {
                                  "type": "Resource"
                                }
                              ]
                            },
                            {
                              "path": "Observation.hasMember",
                              "description": "Optional link to observation if parent observation is a panel",
                              "min": 0,
                              "max": "*",
                              "target": [
                                {
                                  "type": "Observation"
                                }
                              ]
                            }
                          ]
                        }
                      ]
                    }
                  ]
                }
              ]
            }
          ]
        }
      ]
    }
  ]
}