FHIR IG analytics| Package | uk.nhsengland.genomics.r4 |
| Resource Type | GraphDefinition |
| Id | GraphDefinition-Genomics-TrioResultGrouping-Example.json |
| FHIR Version | R4 |
| Source | https://simplifier.net/resolve?scope=uk.nhsengland.genomics.r4@0.5.2&canonical=https://fhir.nhs.uk/GraphDefinition/genomics-trio-result-grouping |
| URL | https://fhir.nhs.uk/GraphDefinition/genomics-trio-result-grouping |
| Version | 0.1.0 |
| Status | draft |
| Date | 2026-01-13 |
| Name | GenomicsTrioResultGrouping |
| Description | GraphDefinition for retrieving all DiagnosticReports and related resources for a genomic trio test, starting from a RequestGroup that links the trio. |
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{
"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"
}
]
}
]
}
]
}
]
}
]
}
]
}
]
}
]
}