FHIR IG analytics| Package | uk.nhsengland.genomics.r4 |
| Resource Type | GraphDefinition |
| Id | GraphDefinition-Genomics-TrioTestOrder-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-test-order |
| URL | https://fhir.nhs.uk/GraphDefinition/genomics-trio-test-order |
| Version | 0.1.0 |
| Status | draft |
| Date | 2026-01-13 |
| Name | GenomicsTrioTestOrder |
| Description | GraphDefinition for retrieving all resources relevant to a Genomic Trio Test Order (proband, father, mother). Starts from ServiceRequest and traverses all key references. |
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FHIR
FHIRsmith{
"resourceType": "GraphDefinition",
"id": "GraphDefinition-GenomicsTrioTestOrder-Example",
"url": "https://fhir.nhs.uk/GraphDefinition/genomics-trio-test-order",
"name": "GenomicsTrioTestOrder",
"version": "0.1.0",
"status": "draft",
"date": "2026-01-13",
"publisher": "NHS England",
"description": "GraphDefinition for retrieving all resources relevant to a Genomic Trio Test Order (proband, father, mother). Starts from ServiceRequest and traverses all key references.",
"start": "ServiceRequest",
"link": [
{
"path": "ServiceRequest.extension.valueReference",
"sliceName": "additionalContact",
"description": "Link to additional contacts for request",
"min": 0,
"max": "*",
"target": [
{
"type": "PractitionerRole"
}
]
},
{
"path": "ServiceRequest.subject",
"description": "Link to the patient the request is for (proband, father, or mother)",
"min": 1,
"max": "1",
"target": [
{
"type": "Patient"
}
]
},
{
"path": "ServiceRequest.requester",
"description": "Link to the requester of the genomic test order",
"min": 1,
"max": "1",
"target": [
{
"type": "PractitionerRole"
}
]
},
{
"path": "ServiceRequest.reasonReference",
"description": "Optional link to the primary condition constituting the reason for testing",
"min": 0,
"max": "*",
"target": [
{
"type": "Condition"
}
]
},
{
"path": "ServiceRequest.supportingInfo",
"description": "Link to additional clinical information to support processing/interpretation of the request",
"min": 0,
"max": "*",
"target": [
{
"type": "RelatedPerson",
"link": [
{
"description": "Patient linked to this RelatedPerson",
"min": 1,
"max": "1",
"target": [
{
"type": "Patient",
"params": "link={ref}"
}
]
}
]
},
{
"type": "Observation",
"link": [
{
"path": "Observation.extension.valueReference",
"description": "Optional link to body structure related to the observation",
"min": 0,
"max": "1",
"target": [
{
"type": "BodyStructure"
}
]
},
{
"path": "Observation.focus",
"description": "Optional link to specimen the observation is about, if relevant",
"min": 0,
"max": "1",
"target": [
{
"type": "Specimen"
}
]
},
{
"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"
}
]
}
]
},
{
"type": "Condition",
"link": [
{
"path": "Condition.recorder",
"description": "Optional link to actor which recorded condition (could be Patient, PreactitionerRole or RelatedPerson)",
"min": 0,
"max": "1",
"target": [
{
"type": "Resource"
}
]
},
{
"path": "Condition.asserter",
"description": "Optional link to actor which asserted condition (could be Patient, PreactitionerRole or RelatedPerson)",
"min": 0,
"max": "1",
"target": [
{
"type": "Resource"
}
]
}
]
},
{
"type": "Procedure"
},
{
"type": "FamilyMemberHistory",
"link": [
{
"path": "FamilyMemberHistory.extension.valueReference",
"sliceName": "family-member-history-genetics-observation",
"description": "Optional link to observations related to a FamilyMemberHistory",
"min": 0,
"max": "*",
"target": [
{
"type": "Observation"
}
]
},
{
"path": "FamilyMemberHistory.extension.valueReference",
"sliceName": "familymemberhistory-patient-record",
"description": "Optional link to Patient resources for related family members",
"min": 0,
"max": "*",
"target": [
{
"type": "Patient"
}
]
}
]
},
{
"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"
}
]
}
]
},
{
"type": "Consent",
"link": [
{
"path": "Consent.sourceReference",
"description": "Optional link to structured QuestionnaireResponse or DocumentReference for RoD/consent forms",
"min": 0,
"max": "1",
"target": [
{
"type": "QuestionnaireResponse",
"link": [
{
"path": "QuestionnaireResponse.author",
"description": "Author of the RoD, most likely a PractitionerRole resource (if a reference)",
"min": 1,
"max": "1",
"target": [
{
"type": "PractitionerRole"
}
]
},
{
"path": "QuestionnaireResponse.source",
"description": "Source of the RoD (could be Patient, PractitionerRole or RelatedPerson)",
"min": 1,
"max": "1",
"target": [
{
"type": "Resource"
}
]
}
]
},
{
"type": "DocumentReference"
}
]
},
{
"path": "Consent.patient",
"description": "Link to Patient resource (relevant for instances where the consent does not apply to the proband)",
"min": 1,
"max": "1",
"target": [
{
"type": "Patient"
}
]
}
]
},
{
"type": "QuestionnaireResponse"
},
{
"type": "Condition"
}
]
},
{
"path": "ServiceRequest.specimen",
"description": "Optional link to specimen where this has already been collected/ordered prior to request submission",
"min": 0,
"max": "*",
"target": [
{
"type": "Specimen",
"params": "request={ref}",
"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"
}
]
}
]
}
]
},
{
"description": "Other ServiceRequests in the trio with the same requisition identifier",
"min": 0,
"max": "*",
"target": [
{
"type": "ServiceRequest",
"params": "requisition={ServiceRequest.requisition}",
"link": [
{
"path": "ServiceRequest.extension.valueReference",
"sliceName": "additionalContact",
"description": "Link to additional contacts for request",
"min": 0,
"max": "*",
"target": [
{
"type": "PractitionerRole"
}
]
},
{
"path": "ServiceRequest.subject",
"description": "Link to the patient the request is for (proband, father, or mother)",
"min": 1,
"max": "1",
"target": [
{
"type": "Patient"
}
]
},
{
"path": "ServiceRequest.requester",
"description": "Link to the requester of the genomic test order",
"min": 1,
"max": "1",
"target": [
{
"type": "PractitionerRole"
}
]
},
{
"path": "ServiceRequest.reasonReference",
"description": "Optional link to the primary condition constituting the reason for testing",
"min": 0,
"max": "*",
"target": [
{
"type": "Condition"
}
]
},
{
"path": "ServiceRequest.supportingInfo",
"description": "Link to additional clinical information to support processing/interpretation of the request",
"min": 0,
"max": "*",
"target": [
{
"type": "RelatedPerson",
"link": [
{
"description": "Patient linked to this RelatedPerson",
"min": 1,
"max": "1",
"target": [
{
"type": "Patient",
"params": "link={ref}"
}
]
}
]
},
{
"type": "Observation",
"link": [
{
"path": "Observation.extension.valueReference",
"description": "Optional link to body structure related to the observation",
"min": 0,
"max": "1",
"target": [
{
"type": "BodyStructure"
}
]
},
{
"path": "Observation.focus",
"description": "Optional link to specimen the observation is about, if relevant",
"min": 0,
"max": "1",
"target": [
{
"type": "Specimen"
}
]
},
{
"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"
}
]
}
]
},
{
"type": "Condition",
"link": [
{
"path": "Condition.recorder",
"description": "Optional link to actor which recorded condition (could be Patient, PreactitionerRole or RelatedPerson)",
"min": 0,
"max": "1",
"target": [
{
"type": "Resource"
}
]
},
{
"path": "Condition.asserter",
"description": "Optional link to actor which asserted condition (could be Patient, PreactitionerRole or RelatedPerson)",
"min": 0,
"max": "1",
"target": [
{
"type": "Resource"
}
]
}
]
},
{
"type": "Procedure"
},
{
"type": "FamilyMemberHistory",
"link": [
{
"path": "FamilyMemberHistory.extension.valueReference",
"sliceName": "family-member-history-genetics-observation",
"description": "Optional link to observations related to a FamilyMemberHistory",
"min": 0,
"max": "*",
"target": [
{
"type": "Observation"
}
]
},
{
"path": "FamilyMemberHistory.extension.valueReference",
"sliceName": "familymemberhistory-patient-record",
"description": "Optional link to Patient resources for related family members",
"min": 0,
"max": "*",
"target": [
{
"type": "Patient"
}
]
}
]
},
{
"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"
}
]
}
]
},
{
"type": "Consent",
"link": [
{
"path": "Consent.sourceReference",
"description": "Optional link to structured QuestionnaireResponse or DocumentReference for RoD/consent forms",
"min": 0,
"max": "1",
"target": [
{
"type": "QuestionnaireResponse",
"link": [
{
"path": "QuestionnaireResponse.author",
"description": "Author of the RoD, most likely a PractitionerRole resource (if a reference)",
"min": 1,
"max": "1",
"target": [
{
"type": "PractitionerRole"
}
]
},
{
"path": "QuestionnaireResponse.source",
"description": "Source of the RoD (could be Patient, PractitionerRole or RelatedPerson)",
"min": 1,
"max": "1",
"target": [
{
"type": "Resource"
}
]
}
]
},
{
"type": "DocumentReference"
}
]
},
{
"path": "Consent.patient",
"description": "Link to Patient resource (relevant for instances where the consent does not apply to the proband)",
"min": 1,
"max": "1",
"target": [
{
"type": "Patient"
}
]
}
]
},
{
"type": "QuestionnaireResponse"
},
{
"type": "Condition"
}
]
},
{
"path": "ServiceRequest.specimen",
"description": "Optional link to specimen where this has already been collected/ordered prior to request submission",
"min": 0,
"max": "*",
"target": [
{
"type": "Specimen",
"params": "request={ref}",
"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"
}
]
}
]
}
]
}
]
}
]
}
]
}