Notice
- Important: This guidance is under active development by NHS England and content may be added or updated on a regular basis.
- This Implementation Guide is currently in Draft and SHOULD NOT be used for development or active implementation without express direction from the NHS England Genomics Unit.
GraphDefinitions
GraphDefinitions created for use in Genomics are described here. These have been created to facilitate validation of transaction bundles (ensuring they include the resources required) as well as provide operations for retrieving predefined bundles via a single transaction e.g. for Test Orders.
GraphDefinition-Genomics-Test-Order
GraphDefinition for validating a complete Test Order bundle as well as for retrieving a complete order via a single API call e.g. to:
GET [base]/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-Example/$graph?graph=genomics-test-order
HTML View
| GraphDefinition |
| id : GraphDefinition-Genomics-test-order |
| url : https://fhir.nhs.uk/GraphDefinition/genomics-test-order |
| version : 0.2.0 |
| name : GenomicsTestOrder |
| status : draft |
| date : 2024-08-09 |
| publisher : NHS England |
| description : GraphDefinition for defining and retrieving the full set of resources relevant to a Genomic Test Order |
| start : ServiceRequest |
| link |
| path : ServiceRequest.extension.valueReference |
| sliceName : additionalContact |
| min : 0 |
| max : * |
| description : Link to additional contacts for request |
| target |
| type : PractitionerRole |
| link |
| path : ServiceRequest.basedOn |
| min : 0 |
| max : 1 |
| description : Link to parent request (it is expected that a separate call to the $graph=genomics-test-order would be required to retrieve resources referenced from the ServiceRequest |
| target |
| type : ServiceRequest |
| link |
| path : ServiceRequest.subject |
| min : 1 |
| max : 1 |
| description : Link to patient the request is for |
| target |
| type : Patient |
| link |
| path : ServiceRequest.requester |
| min : 1 |
| max : 1 |
| description : Link to the requester of the genomic test order |
| target |
| type : PractitionerRole |
| link |
| path : ServiceRequest.reasonReference |
| min : 0 |
| max : 1 |
| description : Optional link to the primary condition constituting the reason for testing |
| target |
| type : Condition |
| link |
| path : ServiceRequest.supportingInfo |
| min : 0 |
| max : * |
| description : Link to additional clinical information to support processing/interpretation of the request |
| target |
| type : RelatedPerson |
| link |
| min : 1 |
| max : 1 |
| description : Patient linked to this RelatedPerson |
| target |
| type : Patient |
| params : link={ref} |
| target |
| type : Observation |
| link |
| path : Observation.extension.valueReference |
| min : 0 |
| max : 1 |
| description : Optional link to body structure related to the observation |
| target |
| type : BodyStructure |
| link |
| path : Observation.focus |
| min : 0 |
| max : 1 |
| description : Optional link to specimen the observation is about, if relevant |
| target |
| type : Specimen |
| link |
| path : Observation.performer |
| min : 0 |
| max : 1 |
| description : Optional link to actor who performed the observation (could be Patient, PractitionerRole or RelatedPerson) |
| target |
| type : Resource |
| link |
| path : Observation.hasMember |
| min : 0 |
| max : * |
| description : Optional link to observation if parent observation is a panel |
| target |
| type : Observation |
| target |
| type : Condition |
| link |
| path : Condition.recorder |
| min : 0 |
| max : 1 |
| description : Optional link to actor which recorded condition (could be Patient, PreactitionerRole or RelatedPerson) |
| target |
| type : Resource |
| link |
| path : Condition.asserter |
| min : 0 |
| max : 1 |
| description : Optional link to actor which asserted condition (could be Patient, PreactitionerRole or RelatedPerson) |
| target |
| type : Resource |
| target |
| type : Procedure |
| target |
| type : FamilyMemberHistory |
| link |
| path : FamilyMemberHistory.extension.valueReference |
| sliceName : family-member-history-genetics-observation |
| min : 0 |
| max : * |
| description : Optional link to observations related to a FamilyMemberHistory |
| target |
| type : Observation |
| link |
| path : FamilyMemberHistory.extension.valueReference |
| sliceName : familymemberhistory-patient-record |
| min : 0 |
| max : * |
| description : Optional link to Patient resources for related family members |
| target |
| type : Patient |
| target |
| type : DocumentReference |
| target |
| type : DiagnosticReport |
| target |
| type : Consent |
| link |
| path : Consent.sourceReference |
| min : 0 |
| max : 1 |
| description : Optional link to structured QuestionnaireResponse or DocumentReference for RoD/consent forms |
| target |
| type : QuestionnaireResponse |
| link |
| path : QuestionnaireResponse.author |
| min : 1 |
| max : 1 |
| description : Author of the RoD, most likely a PractitionerRole resource (if a reference) |
| target |
| type : PractitionerRole |
| link |
| path : QuestionnaireResponse.source |
| min : 1 |
| max : 1 |
| description : Source of the RoD (could be Patient, PractitionerRole or RelatedPerson) |
| target |
| type : Resource |
| target |
| type : DocumentReference |
| link |
| path : Consent.patient |
| min : 1 |
| max : 1 |
| description : Link to Patient resource (relevant for instances where the consent does not apply to the proband) |
| target |
| type : Patient |
| link |
| path : ServiceRequest.specimen |
| min : 0 |
| max : * |
| description : Optional link to specimen where this has already been collected/ordered prior to request submission |
| target |
| type : Specimen |
| link |
| path : Specimen.subject |
| min : 1 |
| max : 1 |
| description : Link to the patient the specimen is from |
| target |
| type : Patient |
| link |
| path : Specimen.parent |
| min : 0 |
| max : 1 |
| description : Link to parent specimen resource |
| target |
| type : Specimen |
| link |
| path : Specimen.collection.collector |
| min : 0 |
| max : 1 |
| description : Link to collector of the specimen |
| target |
| type : PractitionerRole |
| link |
| path : Specimen.collection.bodySite.extension.valueReference |
| sliceName : bodySiteReference |
| min : 0 |
| max : 1 |
| description : Link to the body structure detailing the morphology and topography of the specimen |
| target |
| type : BodyStructure |
| link |
| min : 0 |
| max : * |
| description : Specimen resources referencing this ServiceRequest |
| target |
| type : Specimen |
| params : request={ref} |
| link |
| path : Specimen.subject |
| min : 1 |
| max : 1 |
| description : Link to the patient the specimen is from |
| target |
| type : Patient |
| link |
| path : Specimen.parent |
| min : 0 |
| max : 1 |
| description : Link to parent specimen resource |
| target |
| type : Specimen |
| link |
| path : Specimen.collection.collector |
| min : 0 |
| max : 1 |
| description : Link to collector of the specimen |
| target |
| type : PractitionerRole |
| link |
| path : Specimen.collection.bodySite.extension.valueReference |
| sliceName : bodySiteReference |
| min : 0 |
| max : 1 |
| description : Link to the body structure detailing the morphology and topography of the specimen |
| target |
| type : BodyStructure |
Table View
| GraphDefinition.id[0] | GraphDefinition-Genomics-test-order |
| GraphDefinition.url[0] | https://fhir.nhs.uk/GraphDefinition/genomics-test-order |
| GraphDefinition.version[0] | 0.2.0 |
| GraphDefinition.name[0] | GenomicsTestOrder |
| GraphDefinition.status[0] | draft |
| GraphDefinition.date[0] | 2024-08-09 |
| GraphDefinition.publisher[0] | NHS England |
| GraphDefinition.description[0] | GraphDefinition for defining and retrieving the full set of resources relevant to a Genomic Test Order |
| GraphDefinition.start[0] | ServiceRequest |
| GraphDefinition.link[0].path[0] | ServiceRequest.extension.valueReference |
| GraphDefinition.link[0].sliceName[0] | additionalContact |
| GraphDefinition.link[0].min[0] | 0 |
| GraphDefinition.link[0].max[0] | * |
| GraphDefinition.link[0].description[0] | Link to additional contacts for request |
| GraphDefinition.link[0].target[0].type[0] | PractitionerRole |
| GraphDefinition.link[1].path[0] | ServiceRequest.basedOn |
| GraphDefinition.link[1].min[0] | 0 |
| GraphDefinition.link[1].max[0] | 1 |
| GraphDefinition.link[1].description[0] | Link to parent request (it is expected that a separate call to the $graph=genomics-test-order would be required to retrieve resources referenced from the ServiceRequest |
| GraphDefinition.link[1].target[0].type[0] | ServiceRequest |
| GraphDefinition.link[2].path[0] | ServiceRequest.subject |
| GraphDefinition.link[2].min[0] | 1 |
| GraphDefinition.link[2].max[0] | 1 |
| GraphDefinition.link[2].description[0] | Link to patient the request is for |
| GraphDefinition.link[2].target[0].type[0] | Patient |
| GraphDefinition.link[3].path[0] | ServiceRequest.requester |
| GraphDefinition.link[3].min[0] | 1 |
| GraphDefinition.link[3].max[0] | 1 |
| GraphDefinition.link[3].description[0] | Link to the requester of the genomic test order |
| GraphDefinition.link[3].target[0].type[0] | PractitionerRole |
| GraphDefinition.link[4].path[0] | ServiceRequest.reasonReference |
| GraphDefinition.link[4].min[0] | 0 |
| GraphDefinition.link[4].max[0] | 1 |
| GraphDefinition.link[4].description[0] | Optional link to the primary condition constituting the reason for testing |
| GraphDefinition.link[4].target[0].type[0] | Condition |
| GraphDefinition.link[5].path[0] | ServiceRequest.supportingInfo |
| GraphDefinition.link[5].min[0] | 0 |
| GraphDefinition.link[5].max[0] | * |
| GraphDefinition.link[5].description[0] | Link to additional clinical information to support processing/interpretation of the request |
| GraphDefinition.link[5].target[0].type[0] | RelatedPerson |
| GraphDefinition.link[5].target[0].link[0].min[0] | 1 |
| GraphDefinition.link[5].target[0].link[0].max[0] | 1 |
| GraphDefinition.link[5].target[0].link[0].description[0] | Patient linked to this RelatedPerson |
| GraphDefinition.link[5].target[0].link[0].target[0].type[0] | Patient |
| GraphDefinition.link[5].target[0].link[0].target[0].params[0] | link={ref} |
| GraphDefinition.link[5].target[1].type[0] | Observation |
| GraphDefinition.link[5].target[1].link[0].path[0] | Observation.extension.valueReference |
| GraphDefinition.link[5].target[1].link[0].min[0] | 0 |
| GraphDefinition.link[5].target[1].link[0].max[0] | 1 |
| GraphDefinition.link[5].target[1].link[0].description[0] | Optional link to body structure related to the observation |
| GraphDefinition.link[5].target[1].link[0].target[0].type[0] | BodyStructure |
| GraphDefinition.link[5].target[1].link[1].path[0] | Observation.focus |
| GraphDefinition.link[5].target[1].link[1].min[0] | 0 |
| GraphDefinition.link[5].target[1].link[1].max[0] | 1 |
| GraphDefinition.link[5].target[1].link[1].description[0] | Optional link to specimen the observation is about, if relevant |
| GraphDefinition.link[5].target[1].link[1].target[0].type[0] | Specimen |
| GraphDefinition.link[5].target[1].link[2].path[0] | Observation.performer |
| GraphDefinition.link[5].target[1].link[2].min[0] | 0 |
| GraphDefinition.link[5].target[1].link[2].max[0] | 1 |
| GraphDefinition.link[5].target[1].link[2].description[0] | Optional link to actor who performed the observation (could be Patient, PractitionerRole or RelatedPerson) |
| GraphDefinition.link[5].target[1].link[2].target[0].type[0] | Resource |
| GraphDefinition.link[5].target[1].link[3].path[0] | Observation.hasMember |
| GraphDefinition.link[5].target[1].link[3].min[0] | 0 |
| GraphDefinition.link[5].target[1].link[3].max[0] | * |
| GraphDefinition.link[5].target[1].link[3].description[0] | Optional link to observation if parent observation is a panel |
| GraphDefinition.link[5].target[1].link[3].target[0].type[0] | Observation |
| GraphDefinition.link[5].target[2].type[0] | Condition |
| GraphDefinition.link[5].target[2].link[0].path[0] | Condition.recorder |
| GraphDefinition.link[5].target[2].link[0].min[0] | 0 |
| GraphDefinition.link[5].target[2].link[0].max[0] | 1 |
| GraphDefinition.link[5].target[2].link[0].description[0] | Optional link to actor which recorded condition (could be Patient, PreactitionerRole or RelatedPerson) |
| GraphDefinition.link[5].target[2].link[0].target[0].type[0] | Resource |
| GraphDefinition.link[5].target[2].link[1].path[0] | Condition.asserter |
| GraphDefinition.link[5].target[2].link[1].min[0] | 0 |
| GraphDefinition.link[5].target[2].link[1].max[0] | 1 |
| GraphDefinition.link[5].target[2].link[1].description[0] | Optional link to actor which asserted condition (could be Patient, PreactitionerRole or RelatedPerson) |
| GraphDefinition.link[5].target[2].link[1].target[0].type[0] | Resource |
| GraphDefinition.link[5].target[3].type[0] | Procedure |
| GraphDefinition.link[5].target[4].type[0] | FamilyMemberHistory |
| GraphDefinition.link[5].target[4].link[0].path[0] | FamilyMemberHistory.extension.valueReference |
| GraphDefinition.link[5].target[4].link[0].sliceName[0] | family-member-history-genetics-observation |
| GraphDefinition.link[5].target[4].link[0].min[0] | 0 |
| GraphDefinition.link[5].target[4].link[0].max[0] | * |
| GraphDefinition.link[5].target[4].link[0].description[0] | Optional link to observations related to a FamilyMemberHistory |
| GraphDefinition.link[5].target[4].link[0].target[0].type[0] | Observation |
| GraphDefinition.link[5].target[4].link[1].path[0] | FamilyMemberHistory.extension.valueReference |
| GraphDefinition.link[5].target[4].link[1].sliceName[0] | familymemberhistory-patient-record |
| GraphDefinition.link[5].target[4].link[1].min[0] | 0 |
| GraphDefinition.link[5].target[4].link[1].max[0] | * |
| GraphDefinition.link[5].target[4].link[1].description[0] | Optional link to Patient resources for related family members |
| GraphDefinition.link[5].target[4].link[1].target[0].type[0] | Patient |
| GraphDefinition.link[5].target[5].type[0] | DocumentReference |
| GraphDefinition.link[5].target[6].type[0] | DiagnosticReport |
| GraphDefinition.link[5].target[7].type[0] | Consent |
| GraphDefinition.link[5].target[7].link[0].path[0] | Consent.sourceReference |
| GraphDefinition.link[5].target[7].link[0].min[0] | 0 |
| GraphDefinition.link[5].target[7].link[0].max[0] | 1 |
| GraphDefinition.link[5].target[7].link[0].description[0] | Optional link to structured QuestionnaireResponse or DocumentReference for RoD/consent forms |
| GraphDefinition.link[5].target[7].link[0].target[0].type[0] | QuestionnaireResponse |
| GraphDefinition.link[5].target[7].link[0].target[0].link[0].path[0] | QuestionnaireResponse.author |
| GraphDefinition.link[5].target[7].link[0].target[0].link[0].min[0] | 1 |
| GraphDefinition.link[5].target[7].link[0].target[0].link[0].max[0] | 1 |
| GraphDefinition.link[5].target[7].link[0].target[0].link[0].description[0] | Author of the RoD, most likely a PractitionerRole resource (if a reference) |
| GraphDefinition.link[5].target[7].link[0].target[0].link[0].target[0].type[0] | PractitionerRole |
| GraphDefinition.link[5].target[7].link[0].target[0].link[1].path[0] | QuestionnaireResponse.source |
| GraphDefinition.link[5].target[7].link[0].target[0].link[1].min[0] | 1 |
| GraphDefinition.link[5].target[7].link[0].target[0].link[1].max[0] | 1 |
| GraphDefinition.link[5].target[7].link[0].target[0].link[1].description[0] | Source of the RoD (could be Patient, PractitionerRole or RelatedPerson) |
| GraphDefinition.link[5].target[7].link[0].target[0].link[1].target[0].type[0] | Resource |
| GraphDefinition.link[5].target[7].link[0].target[1].type[0] | DocumentReference |
| GraphDefinition.link[5].target[7].link[1].path[0] | Consent.patient |
| GraphDefinition.link[5].target[7].link[1].min[0] | 1 |
| GraphDefinition.link[5].target[7].link[1].max[0] | 1 |
| GraphDefinition.link[5].target[7].link[1].description[0] | Link to Patient resource (relevant for instances where the consent does not apply to the proband) |
| GraphDefinition.link[5].target[7].link[1].target[0].type[0] | Patient |
| GraphDefinition.link[6].path[0] | ServiceRequest.specimen |
| GraphDefinition.link[6].min[0] | 0 |
| GraphDefinition.link[6].max[0] | * |
| GraphDefinition.link[6].description[0] | Optional link to specimen where this has already been collected/ordered prior to request submission |
| GraphDefinition.link[6].target[0].type[0] | Specimen |
| GraphDefinition.link[6].target[0].link[0].path[0] | Specimen.subject |
| GraphDefinition.link[6].target[0].link[0].min[0] | 1 |
| GraphDefinition.link[6].target[0].link[0].max[0] | 1 |
| GraphDefinition.link[6].target[0].link[0].description[0] | Link to the patient the specimen is from |
| GraphDefinition.link[6].target[0].link[0].target[0].type[0] | Patient |
| GraphDefinition.link[6].target[0].link[1].path[0] | Specimen.parent |
| GraphDefinition.link[6].target[0].link[1].min[0] | 0 |
| GraphDefinition.link[6].target[0].link[1].max[0] | 1 |
| GraphDefinition.link[6].target[0].link[1].description[0] | Link to parent specimen resource |
| GraphDefinition.link[6].target[0].link[1].target[0].type[0] | Specimen |
| GraphDefinition.link[6].target[0].link[2].path[0] | Specimen.collection.collector |
| GraphDefinition.link[6].target[0].link[2].min[0] | 0 |
| GraphDefinition.link[6].target[0].link[2].max[0] | 1 |
| GraphDefinition.link[6].target[0].link[2].description[0] | Link to collector of the specimen |
| GraphDefinition.link[6].target[0].link[2].target[0].type[0] | PractitionerRole |
| GraphDefinition.link[6].target[0].link[3].path[0] | Specimen.collection.bodySite.extension.valueReference |
| GraphDefinition.link[6].target[0].link[3].sliceName[0] | bodySiteReference |
| GraphDefinition.link[6].target[0].link[3].min[0] | 0 |
| GraphDefinition.link[6].target[0].link[3].max[0] | 1 |
| GraphDefinition.link[6].target[0].link[3].description[0] | Link to the body structure detailing the morphology and topography of the specimen |
| GraphDefinition.link[6].target[0].link[3].target[0].type[0] | BodyStructure |
| GraphDefinition.link[7].min[0] | 0 |
| GraphDefinition.link[7].max[0] | * |
| GraphDefinition.link[7].description[0] | Specimen resources referencing this ServiceRequest |
| GraphDefinition.link[7].target[0].type[0] | Specimen |
| GraphDefinition.link[7].target[0].params[0] | request={ref} |
| GraphDefinition.link[7].target[0].link[0].path[0] | Specimen.subject |
| GraphDefinition.link[7].target[0].link[0].min[0] | 1 |
| GraphDefinition.link[7].target[0].link[0].max[0] | 1 |
| GraphDefinition.link[7].target[0].link[0].description[0] | Link to the patient the specimen is from |
| GraphDefinition.link[7].target[0].link[0].target[0].type[0] | Patient |
| GraphDefinition.link[7].target[0].link[1].path[0] | Specimen.parent |
| GraphDefinition.link[7].target[0].link[1].min[0] | 0 |
| GraphDefinition.link[7].target[0].link[1].max[0] | 1 |
| GraphDefinition.link[7].target[0].link[1].description[0] | Link to parent specimen resource |
| GraphDefinition.link[7].target[0].link[1].target[0].type[0] | Specimen |
| GraphDefinition.link[7].target[0].link[2].path[0] | Specimen.collection.collector |
| GraphDefinition.link[7].target[0].link[2].min[0] | 0 |
| GraphDefinition.link[7].target[0].link[2].max[0] | 1 |
| GraphDefinition.link[7].target[0].link[2].description[0] | Link to collector of the specimen |
| GraphDefinition.link[7].target[0].link[2].target[0].type[0] | PractitionerRole |
| GraphDefinition.link[7].target[0].link[3].path[0] | Specimen.collection.bodySite.extension.valueReference |
| GraphDefinition.link[7].target[0].link[3].sliceName[0] | bodySiteReference |
| GraphDefinition.link[7].target[0].link[3].min[0] | 0 |
| GraphDefinition.link[7].target[0].link[3].max[0] | 1 |
| GraphDefinition.link[7].target[0].link[3].description[0] | Link to the body structure detailing the morphology and topography of the specimen |
| GraphDefinition.link[7].target[0].link[3].target[0].type[0] | BodyStructure |
XML View
JSON View
GraphDefinition-Genomics-Test-Result
GraphDefinition for validating/retrieving a complete Test Result. Only relevant for Structured Reporting where the DiagnosticReport references a series of result/supporting-info/recommended-action/genomic-study resources. The complete result can then be returned via a single API call e.g. to:
GET [base]/DiagnosticReport/DiagnosticReport-AnitaLamberts-Example/$graph?graph=genomics-test-result
HTML View
| GraphDefinition |
| id : GraphDefinition-genomics-test-result |
| url : https://fhir.nhs.uk/GraphDefinition/genomics-test-result |
| version : 0.1.0 |
| name : GenomicsTestResult |
| status : draft |
| date : 2024-08-09 |
| publisher : NHS England |
| description : GraphDefinition for defining and retrieving the full set of resources relevant to a Genomic Test Result (based on the Genomics Reporting Genomic-Report profile) |
| start : DiagnosticReport |
| link |
| path : DiagnosticReport.extension.valueReference |
| sliceName : recommended-action |
| min : 0 |
| max : * |
| description : Further actions recommended by the report |
| target |
| type : Task |
| link |
| path : DiagnosticReport.extension.valueReference |
| sliceName : genomic-study |
| min : 0 |
| max : * |
| description : The set of analyses performed to generate/analyse the genomic data |
| target |
| type : Procedure |
| link |
| path : Procedure.extension.valueReference |
| sliceName : genomic-study-analysis |
| min : 0 |
| max : * |
| description : Component of genomic study |
| target |
| type : Procedure |
| link |
| path : DiagnosticReport.extension.valueReference |
| sliceName : supporting-info |
| min : 0 |
| max : * |
| description : Supporting Info references, used to capture clinical information and references to Genomic Data Files |
| target |
| type : DocumentReference |
| target |
| type : Resource |
| link |
| path : DiagnosticReport.basedOn |
| min : 1 |
| max : 1 |
| description : Link to request this DiagnosticReport is in fulfillment of |
| target |
| type : ServiceRequest |
| link |
| path : DiagnosticReport.subject |
| min : 1 |
| max : 1 |
| description : Link to the patient the report is concerning |
| target |
| type : Patient |
| link |
| path : DiagnosticReport.specimen |
| min : 0 |
| max : * |
| description : Link to the specimens used during testing to generate the report |
| target |
| type : Specimen |
| link |
| path : Specimen.subject |
| min : 1 |
| max : 1 |
| description : Link to the patient the specimen is from |
| target |
| type : Patient |
| link |
| path : Specimen.parent |
| min : 0 |
| max : 1 |
| description : Link to parent specimen resource |
| target |
| type : Specimen |
| link |
| path : Specimen.collection.collector |
| min : 0 |
| max : 1 |
| description : Link to collector of the specimen |
| target |
| type : PractitionerRole |
| link |
| path : Specimen.collection.bodySite.extension.valueReference |
| sliceName : bodySiteReference |
| min : 0 |
| max : 1 |
| description : Link to the body structure detailing the morphology and topography of the specimen |
| target |
| type : BodyStructure |
| link |
| path : DiagnosticReport.result |
| min : 0 |
| max : * |
| description : Links to Observations forming the results reported in the DiagnosticReport |
| target |
| type : Observation |
| link |
| path : Observation.performer |
| min : 0 |
| max : 1 |
| description : Optional link to actor who performed the observation (could be Patient, PractitionerRole or RelatedPerson) |
| target |
| type : Resource |
| link |
| path : Observation.hasMember |
| min : 0 |
| max : * |
| description : Optional link to observation if parent observation is a panel |
| target |
| type : Observation |
Table View
| GraphDefinition.id[0] | GraphDefinition-genomics-test-result |
| GraphDefinition.url[0] | https://fhir.nhs.uk/GraphDefinition/genomics-test-result |
| GraphDefinition.version[0] | 0.1.0 |
| GraphDefinition.name[0] | GenomicsTestResult |
| GraphDefinition.status[0] | draft |
| GraphDefinition.date[0] | 2024-08-09 |
| GraphDefinition.publisher[0] | NHS England |
| GraphDefinition.description[0] | GraphDefinition for defining and retrieving the full set of resources relevant to a Genomic Test Result (based on the Genomics Reporting Genomic-Report profile) |
| GraphDefinition.start[0] | DiagnosticReport |
| GraphDefinition.link[0].path[0] | DiagnosticReport.extension.valueReference |
| GraphDefinition.link[0].sliceName[0] | recommended-action |
| GraphDefinition.link[0].min[0] | 0 |
| GraphDefinition.link[0].max[0] | * |
| GraphDefinition.link[0].description[0] | Further actions recommended by the report |
| GraphDefinition.link[0].target[0].type[0] | Task |
| GraphDefinition.link[1].path[0] | DiagnosticReport.extension.valueReference |
| GraphDefinition.link[1].sliceName[0] | genomic-study |
| GraphDefinition.link[1].min[0] | 0 |
| GraphDefinition.link[1].max[0] | * |
| GraphDefinition.link[1].description[0] | The set of analyses performed to generate/analyse the genomic data |
| GraphDefinition.link[1].target[0].type[0] | Procedure |
| GraphDefinition.link[1].target[0].link[0].path[0] | Procedure.extension.valueReference |
| GraphDefinition.link[1].target[0].link[0].sliceName[0] | genomic-study-analysis |
| GraphDefinition.link[1].target[0].link[0].min[0] | 0 |
| GraphDefinition.link[1].target[0].link[0].max[0] | * |
| GraphDefinition.link[1].target[0].link[0].description[0] | Component of genomic study |
| GraphDefinition.link[1].target[0].link[0].target[0].type[0] | Procedure |
| GraphDefinition.link[2].path[0] | DiagnosticReport.extension.valueReference |
| GraphDefinition.link[2].sliceName[0] | supporting-info |
| GraphDefinition.link[2].min[0] | 0 |
| GraphDefinition.link[2].max[0] | * |
| GraphDefinition.link[2].description[0] | Supporting Info references, used to capture clinical information and references to Genomic Data Files |
| GraphDefinition.link[2].target[0].type[0] | DocumentReference |
| GraphDefinition.link[2].target[1].type[0] | Resource |
| GraphDefinition.link[3].path[0] | DiagnosticReport.basedOn |
| GraphDefinition.link[3].min[0] | 1 |
| GraphDefinition.link[3].max[0] | 1 |
| GraphDefinition.link[3].description[0] | Link to request this DiagnosticReport is in fulfillment of |
| GraphDefinition.link[3].target[0].type[0] | ServiceRequest |
| GraphDefinition.link[4].path[0] | DiagnosticReport.subject |
| GraphDefinition.link[4].min[0] | 1 |
| GraphDefinition.link[4].max[0] | 1 |
| GraphDefinition.link[4].description[0] | Link to the patient the report is concerning |
| GraphDefinition.link[4].target[0].type[0] | Patient |
| GraphDefinition.link[5].path[0] | DiagnosticReport.specimen |
| GraphDefinition.link[5].min[0] | 0 |
| GraphDefinition.link[5].max[0] | * |
| GraphDefinition.link[5].description[0] | Link to the specimens used during testing to generate the report |
| GraphDefinition.link[5].target[0].type[0] | Specimen |
| GraphDefinition.link[5].target[0].link[0].path[0] | Specimen.subject |
| GraphDefinition.link[5].target[0].link[0].min[0] | 1 |
| GraphDefinition.link[5].target[0].link[0].max[0] | 1 |
| GraphDefinition.link[5].target[0].link[0].description[0] | Link to the patient the specimen is from |
| GraphDefinition.link[5].target[0].link[0].target[0].type[0] | Patient |
| GraphDefinition.link[5].target[0].link[1].path[0] | Specimen.parent |
| GraphDefinition.link[5].target[0].link[1].min[0] | 0 |
| GraphDefinition.link[5].target[0].link[1].max[0] | 1 |
| GraphDefinition.link[5].target[0].link[1].description[0] | Link to parent specimen resource |
| GraphDefinition.link[5].target[0].link[1].target[0].type[0] | Specimen |
| GraphDefinition.link[5].target[0].link[2].path[0] | Specimen.collection.collector |
| GraphDefinition.link[5].target[0].link[2].min[0] | 0 |
| GraphDefinition.link[5].target[0].link[2].max[0] | 1 |
| GraphDefinition.link[5].target[0].link[2].description[0] | Link to collector of the specimen |
| GraphDefinition.link[5].target[0].link[2].target[0].type[0] | PractitionerRole |
| GraphDefinition.link[5].target[0].link[3].path[0] | Specimen.collection.bodySite.extension.valueReference |
| GraphDefinition.link[5].target[0].link[3].sliceName[0] | bodySiteReference |
| GraphDefinition.link[5].target[0].link[3].min[0] | 0 |
| GraphDefinition.link[5].target[0].link[3].max[0] | 1 |
| GraphDefinition.link[5].target[0].link[3].description[0] | Link to the body structure detailing the morphology and topography of the specimen |
| GraphDefinition.link[5].target[0].link[3].target[0].type[0] | BodyStructure |
| GraphDefinition.link[6].path[0] | DiagnosticReport.result |
| GraphDefinition.link[6].min[0] | 0 |
| GraphDefinition.link[6].max[0] | * |
| GraphDefinition.link[6].description[0] | Links to Observations forming the results reported in the DiagnosticReport |
| GraphDefinition.link[6].target[0].type[0] | Observation |
| GraphDefinition.link[6].target[0].link[0].path[0] | Observation.performer |
| GraphDefinition.link[6].target[0].link[0].min[0] | 0 |
| GraphDefinition.link[6].target[0].link[0].max[0] | 1 |
| GraphDefinition.link[6].target[0].link[0].description[0] | Optional link to actor who performed the observation (could be Patient, PractitionerRole or RelatedPerson) |
| GraphDefinition.link[6].target[0].link[0].target[0].type[0] | Resource |
| GraphDefinition.link[6].target[0].link[1].path[0] | Observation.hasMember |
| GraphDefinition.link[6].target[0].link[1].min[0] | 0 |
| GraphDefinition.link[6].target[0].link[1].max[0] | * |
| GraphDefinition.link[6].target[0].link[1].description[0] | Optional link to observation if parent observation is a panel |
| GraphDefinition.link[6].target[0].link[1].target[0].type[0] | Observation |
XML View
JSON View
GraphDefinition-Genomics-GroupTestResult
GraphDefinition for retrieving the full set of results for a group of orders e.g. reports for a Trio test:
GET [base] /RequestGroup/RequestGroup-WGSTrioTesting-Example/$graph?graph=genomics-trio-result-grouping
HTML View
| GraphDefinition |
| id : GraphDefinition-Genomics-TrioResultGrouping-Example |
| url : https://fhir.nhs.uk/GraphDefinition/genomics-trio-result-grouping |
| version : 0.1.0 |
| name : GenomicsTrioResultGrouping |
| 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 |
| min : 1 |
| max : * |
| description : Link to ServiceRequests for each member of the trio |
| target |
| type : ServiceRequest |
| link |
| min : 0 |
| max : * |
| description : DiagnosticReport(s) generated from this ServiceRequest |
| target |
| type : DiagnosticReport |
| params : basedOn={ref} |
| link |
| path : DiagnosticReport.extension.valueReference |
| sliceName : recommended-action |
| min : 0 |
| max : * |
| description : Further actions recommended by the report |
| target |
| type : Task |
| link |
| path : DiagnosticReport.extension.valueReference |
| sliceName : genomic-study |
| min : 0 |
| max : * |
| description : The set of analyses performed to generate/analyse the genomic data |
| target |
| type : Procedure |
| link |
| path : Procedure.extension.valueReference |
| sliceName : genomic-study-analysis |
| min : 0 |
| max : * |
| description : Component of genomic study |
| target |
| type : Procedure |
| link |
| path : DiagnosticReport.extension.valueReference |
| sliceName : supporting-info |
| min : 0 |
| max : * |
| description : Supporting Info references, used to capture clinical information and references to Genomic Data Files |
| target |
| type : DocumentReference |
| target |
| type : Resource |
| link |
| path : DiagnosticReport.subject |
| min : 1 |
| max : 1 |
| description : Link to the patient the report is concerning |
| target |
| type : Patient |
| link |
| path : DiagnosticReport.basedOn |
| min : 1 |
| max : * |
| description : ServiceRequest(s) that this report is based on |
| target |
| type : ServiceRequest |
| link |
| path : DiagnosticReport.specimen |
| min : 0 |
| max : * |
| description : Link to the specimens used during testing to generate the report |
| target |
| type : Specimen |
| link |
| path : Specimen.subject |
| min : 1 |
| max : 1 |
| description : Link to the patient the specimen is from |
| target |
| type : Patient |
| link |
| path : Specimen.parent |
| min : 0 |
| max : 1 |
| description : Link to parent specimen resource |
| target |
| type : Specimen |
| link |
| path : Specimen.collection.collector |
| min : 0 |
| max : 1 |
| description : Link to collector of the specimen |
| target |
| type : PractitionerRole |
| link |
| path : Specimen.collection.bodySite.extension.valueReference |
| sliceName : bodySiteReference |
| min : 0 |
| max : 1 |
| description : Link to the body structure detailing the morphology and topography of the specimen |
| target |
| type : BodyStructure |
| link |
| path : DiagnosticReport.result |
| min : 0 |
| max : * |
| description : Links to Observations forming the results reported in the DiagnosticReport |
| target |
| type : Observation |
| link |
| path : Observation.performer |
| min : 0 |
| max : 1 |
| description : Optional link to actor who performed the observation (could be Patient, PractitionerRole or RelatedPerson) |
| target |
| type : Resource |
| link |
| path : Observation.hasMember |
| min : 0 |
| max : * |
| description : Optional link to observation if parent observation is a panel |
| target |
| type : Observation |
Table View
| GraphDefinition.id[0] | GraphDefinition-Genomics-TrioResultGrouping-Example |
| GraphDefinition.url[0] | https://fhir.nhs.uk/GraphDefinition/genomics-trio-result-grouping |
| GraphDefinition.version[0] | 0.1.0 |
| GraphDefinition.name[0] | GenomicsTrioResultGrouping |
| GraphDefinition.status[0] | draft |
| GraphDefinition.date[0] | 2026-01-13 |
| GraphDefinition.publisher[0] | NHS England |
| GraphDefinition.description[0] | GraphDefinition for retrieving all DiagnosticReports and related resources for a genomic trio test, starting from a RequestGroup that links the trio. |
| GraphDefinition.start[0] | RequestGroup |
| GraphDefinition.link[0].path[0] | RequestGroup.action.resource |
| GraphDefinition.link[0].min[0] | 1 |
| GraphDefinition.link[0].max[0] | * |
| GraphDefinition.link[0].description[0] | Link to ServiceRequests for each member of the trio |
| GraphDefinition.link[0].target[0].type[0] | ServiceRequest |
| GraphDefinition.link[0].target[0].link[0].min[0] | 0 |
| GraphDefinition.link[0].target[0].link[0].max[0] | * |
| GraphDefinition.link[0].target[0].link[0].description[0] | DiagnosticReport(s) generated from this ServiceRequest |
| GraphDefinition.link[0].target[0].link[0].target[0].type[0] | DiagnosticReport |
| GraphDefinition.link[0].target[0].link[0].target[0].params[0] | basedOn={ref} |
| GraphDefinition.link[0].target[0].link[0].target[0].link[0].path[0] | DiagnosticReport.extension.valueReference |
| GraphDefinition.link[0].target[0].link[0].target[0].link[0].sliceName[0] | recommended-action |
| GraphDefinition.link[0].target[0].link[0].target[0].link[0].min[0] | 0 |
| GraphDefinition.link[0].target[0].link[0].target[0].link[0].max[0] | * |
| GraphDefinition.link[0].target[0].link[0].target[0].link[0].description[0] | Further actions recommended by the report |
| GraphDefinition.link[0].target[0].link[0].target[0].link[0].target[0].type[0] | Task |
| GraphDefinition.link[0].target[0].link[0].target[0].link[1].path[0] | DiagnosticReport.extension.valueReference |
| GraphDefinition.link[0].target[0].link[0].target[0].link[1].sliceName[0] | genomic-study |
| GraphDefinition.link[0].target[0].link[0].target[0].link[1].min[0] | 0 |
| GraphDefinition.link[0].target[0].link[0].target[0].link[1].max[0] | * |
| GraphDefinition.link[0].target[0].link[0].target[0].link[1].description[0] | The set of analyses performed to generate/analyse the genomic data |
| GraphDefinition.link[0].target[0].link[0].target[0].link[1].target[0].type[0] | Procedure |
| GraphDefinition.link[0].target[0].link[0].target[0].link[1].target[0].link[0].path[0] | Procedure.extension.valueReference |
| GraphDefinition.link[0].target[0].link[0].target[0].link[1].target[0].link[0].sliceName[0] | genomic-study-analysis |
| GraphDefinition.link[0].target[0].link[0].target[0].link[1].target[0].link[0].min[0] | 0 |
| GraphDefinition.link[0].target[0].link[0].target[0].link[1].target[0].link[0].max[0] | * |
| GraphDefinition.link[0].target[0].link[0].target[0].link[1].target[0].link[0].description[0] | Component of genomic study |
| GraphDefinition.link[0].target[0].link[0].target[0].link[1].target[0].link[0].target[0].type[0] | Procedure |
| GraphDefinition.link[0].target[0].link[0].target[0].link[2].path[0] | DiagnosticReport.extension.valueReference |
| GraphDefinition.link[0].target[0].link[0].target[0].link[2].sliceName[0] | supporting-info |
| GraphDefinition.link[0].target[0].link[0].target[0].link[2].min[0] | 0 |
| GraphDefinition.link[0].target[0].link[0].target[0].link[2].max[0] | * |
| GraphDefinition.link[0].target[0].link[0].target[0].link[2].description[0] | Supporting Info references, used to capture clinical information and references to Genomic Data Files |
| GraphDefinition.link[0].target[0].link[0].target[0].link[2].target[0].type[0] | DocumentReference |
| GraphDefinition.link[0].target[0].link[0].target[0].link[2].target[1].type[0] | Resource |
| GraphDefinition.link[0].target[0].link[0].target[0].link[3].path[0] | DiagnosticReport.subject |
| GraphDefinition.link[0].target[0].link[0].target[0].link[3].min[0] | 1 |
| GraphDefinition.link[0].target[0].link[0].target[0].link[3].max[0] | 1 |
| GraphDefinition.link[0].target[0].link[0].target[0].link[3].description[0] | Link to the patient the report is concerning |
| GraphDefinition.link[0].target[0].link[0].target[0].link[3].target[0].type[0] | Patient |
| GraphDefinition.link[0].target[0].link[0].target[0].link[4].path[0] | DiagnosticReport.basedOn |
| GraphDefinition.link[0].target[0].link[0].target[0].link[4].min[0] | 1 |
| GraphDefinition.link[0].target[0].link[0].target[0].link[4].max[0] | * |
| GraphDefinition.link[0].target[0].link[0].target[0].link[4].description[0] | ServiceRequest(s) that this report is based on |
| GraphDefinition.link[0].target[0].link[0].target[0].link[4].target[0].type[0] | ServiceRequest |
| GraphDefinition.link[0].target[0].link[0].target[0].link[5].path[0] | DiagnosticReport.specimen |
| GraphDefinition.link[0].target[0].link[0].target[0].link[5].min[0] | 0 |
| GraphDefinition.link[0].target[0].link[0].target[0].link[5].max[0] | * |
| GraphDefinition.link[0].target[0].link[0].target[0].link[5].description[0] | Link to the specimens used during testing to generate the report |
| GraphDefinition.link[0].target[0].link[0].target[0].link[5].target[0].type[0] | Specimen |
| GraphDefinition.link[0].target[0].link[0].target[0].link[5].target[0].link[0].path[0] | Specimen.subject |
| GraphDefinition.link[0].target[0].link[0].target[0].link[5].target[0].link[0].min[0] | 1 |
| GraphDefinition.link[0].target[0].link[0].target[0].link[5].target[0].link[0].max[0] | 1 |
| GraphDefinition.link[0].target[0].link[0].target[0].link[5].target[0].link[0].description[0] | Link to the patient the specimen is from |
| GraphDefinition.link[0].target[0].link[0].target[0].link[5].target[0].link[0].target[0].type[0] | Patient |
| GraphDefinition.link[0].target[0].link[0].target[0].link[5].target[0].link[1].path[0] | Specimen.parent |
| GraphDefinition.link[0].target[0].link[0].target[0].link[5].target[0].link[1].min[0] | 0 |
| GraphDefinition.link[0].target[0].link[0].target[0].link[5].target[0].link[1].max[0] | 1 |
| GraphDefinition.link[0].target[0].link[0].target[0].link[5].target[0].link[1].description[0] | Link to parent specimen resource |
| GraphDefinition.link[0].target[0].link[0].target[0].link[5].target[0].link[1].target[0].type[0] | Specimen |
| GraphDefinition.link[0].target[0].link[0].target[0].link[5].target[0].link[2].path[0] | Specimen.collection.collector |
| GraphDefinition.link[0].target[0].link[0].target[0].link[5].target[0].link[2].min[0] | 0 |
| GraphDefinition.link[0].target[0].link[0].target[0].link[5].target[0].link[2].max[0] | 1 |
| GraphDefinition.link[0].target[0].link[0].target[0].link[5].target[0].link[2].description[0] | Link to collector of the specimen |
| GraphDefinition.link[0].target[0].link[0].target[0].link[5].target[0].link[2].target[0].type[0] | PractitionerRole |
| GraphDefinition.link[0].target[0].link[0].target[0].link[5].target[0].link[3].path[0] | Specimen.collection.bodySite.extension.valueReference |
| GraphDefinition.link[0].target[0].link[0].target[0].link[5].target[0].link[3].sliceName[0] | bodySiteReference |
| GraphDefinition.link[0].target[0].link[0].target[0].link[5].target[0].link[3].min[0] | 0 |
| GraphDefinition.link[0].target[0].link[0].target[0].link[5].target[0].link[3].max[0] | 1 |
| GraphDefinition.link[0].target[0].link[0].target[0].link[5].target[0].link[3].description[0] | Link to the body structure detailing the morphology and topography of the specimen |
| GraphDefinition.link[0].target[0].link[0].target[0].link[5].target[0].link[3].target[0].type[0] | BodyStructure |
| GraphDefinition.link[0].target[0].link[0].target[0].link[6].path[0] | DiagnosticReport.result |
| GraphDefinition.link[0].target[0].link[0].target[0].link[6].min[0] | 0 |
| GraphDefinition.link[0].target[0].link[0].target[0].link[6].max[0] | * |
| GraphDefinition.link[0].target[0].link[0].target[0].link[6].description[0] | Links to Observations forming the results reported in the DiagnosticReport |
| GraphDefinition.link[0].target[0].link[0].target[0].link[6].target[0].type[0] | Observation |
| GraphDefinition.link[0].target[0].link[0].target[0].link[6].target[0].link[0].path[0] | Observation.performer |
| GraphDefinition.link[0].target[0].link[0].target[0].link[6].target[0].link[0].min[0] | 0 |
| GraphDefinition.link[0].target[0].link[0].target[0].link[6].target[0].link[0].max[0] | 1 |
| GraphDefinition.link[0].target[0].link[0].target[0].link[6].target[0].link[0].description[0] | Optional link to actor who performed the observation (could be Patient, PractitionerRole or RelatedPerson) |
| GraphDefinition.link[0].target[0].link[0].target[0].link[6].target[0].link[0].target[0].type[0] | Resource |
| GraphDefinition.link[0].target[0].link[0].target[0].link[6].target[0].link[1].path[0] | Observation.hasMember |
| GraphDefinition.link[0].target[0].link[0].target[0].link[6].target[0].link[1].min[0] | 0 |
| GraphDefinition.link[0].target[0].link[0].target[0].link[6].target[0].link[1].max[0] | * |
| GraphDefinition.link[0].target[0].link[0].target[0].link[6].target[0].link[1].description[0] | Optional link to observation if parent observation is a panel |
| GraphDefinition.link[0].target[0].link[0].target[0].link[6].target[0].link[1].target[0].type[0] | Observation |
XML View
JSON View
GraphDefinition-Genomics-GroupTestOrder
GraphDefinition for retrieving a group of requests, linked by a requisition identifier, via a single API call e.g. to retrieve a complete Trio test order:
GET [base]/RequestGroup/RequestGroup-WGSTrioTesting-Example/$graph?graph=genomics-trio-test-order
HTML View
| GraphDefinition |
| id : GraphDefinition-GenomicsTrioTestOrder-Example |
| url : https://fhir.nhs.uk/GraphDefinition/genomics-trio-test-order |
| version : 0.1.0 |
| name : GenomicsTrioTestOrder |
| 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 |
| min : 0 |
| max : * |
| description : Link to additional contacts for request |
| target |
| type : PractitionerRole |
| link |
| path : ServiceRequest.subject |
| min : 1 |
| max : 1 |
| description : Link to the patient the request is for (proband, father, or mother) |
| target |
| type : Patient |
| link |
| path : ServiceRequest.requester |
| min : 1 |
| max : 1 |
| description : Link to the requester of the genomic test order |
| target |
| type : PractitionerRole |
| link |
| path : ServiceRequest.reasonReference |
| min : 0 |
| max : * |
| description : Optional link to the primary condition constituting the reason for testing |
| target |
| type : Condition |
| link |
| path : ServiceRequest.supportingInfo |
| min : 0 |
| max : * |
| description : Link to additional clinical information to support processing/interpretation of the request |
| target |
| type : RelatedPerson |
| link |
| min : 1 |
| max : 1 |
| description : Patient linked to this RelatedPerson |
| target |
| type : Patient |
| params : link={ref} |
| target |
| type : Observation |
| link |
| path : Observation.extension.valueReference |
| min : 0 |
| max : 1 |
| description : Optional link to body structure related to the observation |
| target |
| type : BodyStructure |
| link |
| path : Observation.focus |
| min : 0 |
| max : 1 |
| description : Optional link to specimen the observation is about, if relevant |
| target |
| type : Specimen |
| link |
| path : Observation.performer |
| min : 0 |
| max : 1 |
| description : Optional link to actor who performed the observation (could be Patient, PractitionerRole or RelatedPerson) |
| target |
| type : Resource |
| link |
| path : Observation.hasMember |
| min : 0 |
| max : * |
| description : Optional link to observation if parent observation is a panel |
| target |
| type : Observation |
| target |
| type : Condition |
| link |
| path : Condition.recorder |
| min : 0 |
| max : 1 |
| description : Optional link to actor which recorded condition (could be Patient, PreactitionerRole or RelatedPerson) |
| target |
| type : Resource |
| link |
| path : Condition.asserter |
| min : 0 |
| max : 1 |
| description : Optional link to actor which asserted condition (could be Patient, PreactitionerRole or RelatedPerson) |
| target |
| type : Resource |
| target |
| type : Procedure |
| target |
| type : FamilyMemberHistory |
| link |
| path : FamilyMemberHistory.extension.valueReference |
| sliceName : family-member-history-genetics-observation |
| min : 0 |
| max : * |
| description : Optional link to observations related to a FamilyMemberHistory |
| target |
| type : Observation |
| link |
| path : FamilyMemberHistory.extension.valueReference |
| sliceName : familymemberhistory-patient-record |
| min : 0 |
| max : * |
| description : Optional link to Patient resources for related family members |
| target |
| type : Patient |
| target |
| type : Specimen |
| link |
| path : Specimen.subject |
| min : 1 |
| max : 1 |
| description : Link to the patient the specimen is from |
| target |
| type : Patient |
| link |
| path : Specimen.parent |
| min : 0 |
| max : 1 |
| description : Link to parent specimen resource |
| target |
| type : Specimen |
| link |
| path : Specimen.collection.collector |
| min : 0 |
| max : 1 |
| description : Link to collector of the specimen |
| target |
| type : PractitionerRole |
| link |
| path : Specimen.collection.bodySite.extension.valueReference |
| sliceName : bodySiteReference |
| min : 0 |
| max : 1 |
| description : Link to the body structure detailing the morphology and topography of the specimen |
| target |
| type : BodyStructure |
| target |
| type : Consent |
| link |
| path : Consent.sourceReference |
| min : 0 |
| max : 1 |
| description : Optional link to structured QuestionnaireResponse or DocumentReference for RoD/consent forms |
| target |
| type : QuestionnaireResponse |
| link |
| path : QuestionnaireResponse.author |
| min : 1 |
| max : 1 |
| description : Author of the RoD, most likely a PractitionerRole resource (if a reference) |
| target |
| type : PractitionerRole |
| link |
| path : QuestionnaireResponse.source |
| min : 1 |
| max : 1 |
| description : Source of the RoD (could be Patient, PractitionerRole or RelatedPerson) |
| target |
| type : Resource |
| target |
| type : DocumentReference |
| link |
| path : Consent.patient |
| min : 1 |
| max : 1 |
| description : Link to Patient resource (relevant for instances where the consent does not apply to the proband) |
| target |
| type : Patient |
| target |
| type : QuestionnaireResponse |
| target |
| type : Condition |
| link |
| path : ServiceRequest.specimen |
| min : 0 |
| max : * |
| description : Optional link to specimen where this has already been collected/ordered prior to request submission |
| target |
| type : Specimen |
| params : request={ref} |
| link |
| path : Specimen.subject |
| min : 1 |
| max : 1 |
| description : Link to the patient the specimen is from |
| target |
| type : Patient |
| link |
| path : Specimen.parent |
| min : 0 |
| max : 1 |
| description : Link to parent specimen resource |
| target |
| type : Specimen |
| link |
| path : Specimen.collection.collector |
| min : 0 |
| max : 1 |
| description : Link to collector of the specimen |
| target |
| type : PractitionerRole |
| link |
| path : Specimen.collection.bodySite.extension.valueReference |
| sliceName : bodySiteReference |
| min : 0 |
| max : 1 |
| description : Link to the body structure detailing the morphology and topography of the specimen |
| target |
| type : BodyStructure |
| link |
| min : 0 |
| max : * |
| description : Other ServiceRequests in the trio with the same requisition identifier |
| target |
| type : ServiceRequest |
| params : requisition={ServiceRequest.requisition} |
| link |
| path : ServiceRequest.extension.valueReference |
| sliceName : additionalContact |
| min : 0 |
| max : * |
| description : Link to additional contacts for request |
| target |
| type : PractitionerRole |
| link |
| path : ServiceRequest.subject |
| min : 1 |
| max : 1 |
| description : Link to the patient the request is for (proband, father, or mother) |
| target |
| type : Patient |
| link |
| path : ServiceRequest.requester |
| min : 1 |
| max : 1 |
| description : Link to the requester of the genomic test order |
| target |
| type : PractitionerRole |
| link |
| path : ServiceRequest.reasonReference |
| min : 0 |
| max : * |
| description : Optional link to the primary condition constituting the reason for testing |
| target |
| type : Condition |
| link |
| path : ServiceRequest.supportingInfo |
| min : 0 |
| max : * |
| description : Link to additional clinical information to support processing/interpretation of the request |
| target |
| type : RelatedPerson |
| link |
| min : 1 |
| max : 1 |
| description : Patient linked to this RelatedPerson |
| target |
| type : Patient |
| params : link={ref} |
| target |
| type : Observation |
| link |
| path : Observation.extension.valueReference |
| min : 0 |
| max : 1 |
| description : Optional link to body structure related to the observation |
| target |
| type : BodyStructure |
| link |
| path : Observation.focus |
| min : 0 |
| max : 1 |
| description : Optional link to specimen the observation is about, if relevant |
| target |
| type : Specimen |
| link |
| path : Observation.performer |
| min : 0 |
| max : 1 |
| description : Optional link to actor who performed the observation (could be Patient, PractitionerRole or RelatedPerson) |
| target |
| type : Resource |
| link |
| path : Observation.hasMember |
| min : 0 |
| max : * |
| description : Optional link to observation if parent observation is a panel |
| target |
| type : Observation |
| target |
| type : Condition |
| link |
| path : Condition.recorder |
| min : 0 |
| max : 1 |
| description : Optional link to actor which recorded condition (could be Patient, PreactitionerRole or RelatedPerson) |
| target |
| type : Resource |
| link |
| path : Condition.asserter |
| min : 0 |
| max : 1 |
| description : Optional link to actor which asserted condition (could be Patient, PreactitionerRole or RelatedPerson) |
| target |
| type : Resource |
| target |
| type : Procedure |
| target |
| type : FamilyMemberHistory |
| link |
| path : FamilyMemberHistory.extension.valueReference |
| sliceName : family-member-history-genetics-observation |
| min : 0 |
| max : * |
| description : Optional link to observations related to a FamilyMemberHistory |
| target |
| type : Observation |
| link |
| path : FamilyMemberHistory.extension.valueReference |
| sliceName : familymemberhistory-patient-record |
| min : 0 |
| max : * |
| description : Optional link to Patient resources for related family members |
| target |
| type : Patient |
| target |
| type : Specimen |
| link |
| path : Specimen.subject |
| min : 1 |
| max : 1 |
| description : Link to the patient the specimen is from |
| target |
| type : Patient |
| link |
| path : Specimen.parent |
| min : 0 |
| max : 1 |
| description : Link to parent specimen resource |
| target |
| type : Specimen |
| link |
| path : Specimen.collection.collector |
| min : 0 |
| max : 1 |
| description : Link to collector of the specimen |
| target |
| type : PractitionerRole |
| link |
| path : Specimen.collection.bodySite.extension.valueReference |
| sliceName : bodySiteReference |
| min : 0 |
| max : 1 |
| description : Link to the body structure detailing the morphology and topography of the specimen |
| target |
| type : BodyStructure |
| target |
| type : Consent |
| link |
| path : Consent.sourceReference |
| min : 0 |
| max : 1 |
| description : Optional link to structured QuestionnaireResponse or DocumentReference for RoD/consent forms |
| target |
| type : QuestionnaireResponse |
| link |
| path : QuestionnaireResponse.author |
| min : 1 |
| max : 1 |
| description : Author of the RoD, most likely a PractitionerRole resource (if a reference) |
| target |
| type : PractitionerRole |
| link |
| path : QuestionnaireResponse.source |
| min : 1 |
| max : 1 |
| description : Source of the RoD (could be Patient, PractitionerRole or RelatedPerson) |
| target |
| type : Resource |
| target |
| type : DocumentReference |
| link |
| path : Consent.patient |
| min : 1 |
| max : 1 |
| description : Link to Patient resource (relevant for instances where the consent does not apply to the proband) |
| target |
| type : Patient |
| target |
| type : QuestionnaireResponse |
| target |
| type : Condition |
| link |
| path : ServiceRequest.specimen |
| min : 0 |
| max : * |
| description : Optional link to specimen where this has already been collected/ordered prior to request submission |
| target |
| type : Specimen |
| params : request={ref} |
| link |
| path : Specimen.subject |
| min : 1 |
| max : 1 |
| description : Link to the patient the specimen is from |
| target |
| type : Patient |
| link |
| path : Specimen.parent |
| min : 0 |
| max : 1 |
| description : Link to parent specimen resource |
| target |
| type : Specimen |
| link |
| path : Specimen.collection.collector |
| min : 0 |
| max : 1 |
| description : Link to collector of the specimen |
| target |
| type : PractitionerRole |
| link |
| path : Specimen.collection.bodySite.extension.valueReference |
| sliceName : bodySiteReference |
| min : 0 |
| max : 1 |
| description : Link to the body structure detailing the morphology and topography of the specimen |
| target |
| type : BodyStructure |
Table View
| GraphDefinition.id[0] | GraphDefinition-GenomicsTrioTestOrder-Example |
| GraphDefinition.url[0] | https://fhir.nhs.uk/GraphDefinition/genomics-trio-test-order |
| GraphDefinition.version[0] | 0.1.0 |
| GraphDefinition.name[0] | GenomicsTrioTestOrder |
| GraphDefinition.status[0] | draft |
| GraphDefinition.date[0] | 2026-01-13 |
| GraphDefinition.publisher[0] | NHS England |
| GraphDefinition.description[0] | GraphDefinition for retrieving all resources relevant to a Genomic Trio Test Order (proband, father, mother). Starts from ServiceRequest and traverses all key references. |
| GraphDefinition.start[0] | ServiceRequest |
| GraphDefinition.link[0].path[0] | ServiceRequest.extension.valueReference |
| GraphDefinition.link[0].sliceName[0] | additionalContact |
| GraphDefinition.link[0].min[0] | 0 |
| GraphDefinition.link[0].max[0] | * |
| GraphDefinition.link[0].description[0] | Link to additional contacts for request |
| GraphDefinition.link[0].target[0].type[0] | PractitionerRole |
| GraphDefinition.link[1].path[0] | ServiceRequest.subject |
| GraphDefinition.link[1].min[0] | 1 |
| GraphDefinition.link[1].max[0] | 1 |
| GraphDefinition.link[1].description[0] | Link to the patient the request is for (proband, father, or mother) |
| GraphDefinition.link[1].target[0].type[0] | Patient |
| GraphDefinition.link[2].path[0] | ServiceRequest.requester |
| GraphDefinition.link[2].min[0] | 1 |
| GraphDefinition.link[2].max[0] | 1 |
| GraphDefinition.link[2].description[0] | Link to the requester of the genomic test order |
| GraphDefinition.link[2].target[0].type[0] | PractitionerRole |
| GraphDefinition.link[3].path[0] | ServiceRequest.reasonReference |
| GraphDefinition.link[3].min[0] | 0 |
| GraphDefinition.link[3].max[0] | * |
| GraphDefinition.link[3].description[0] | Optional link to the primary condition constituting the reason for testing |
| GraphDefinition.link[3].target[0].type[0] | Condition |
| GraphDefinition.link[4].path[0] | ServiceRequest.supportingInfo |
| GraphDefinition.link[4].min[0] | 0 |
| GraphDefinition.link[4].max[0] | * |
| GraphDefinition.link[4].description[0] | Link to additional clinical information to support processing/interpretation of the request |
| GraphDefinition.link[4].target[0].type[0] | RelatedPerson |
| GraphDefinition.link[4].target[0].link[0].min[0] | 1 |
| GraphDefinition.link[4].target[0].link[0].max[0] | 1 |
| GraphDefinition.link[4].target[0].link[0].description[0] | Patient linked to this RelatedPerson |
| GraphDefinition.link[4].target[0].link[0].target[0].type[0] | Patient |
| GraphDefinition.link[4].target[0].link[0].target[0].params[0] | link={ref} |
| GraphDefinition.link[4].target[1].type[0] | Observation |
| GraphDefinition.link[4].target[1].link[0].path[0] | Observation.extension.valueReference |
| GraphDefinition.link[4].target[1].link[0].min[0] | 0 |
| GraphDefinition.link[4].target[1].link[0].max[0] | 1 |
| GraphDefinition.link[4].target[1].link[0].description[0] | Optional link to body structure related to the observation |
| GraphDefinition.link[4].target[1].link[0].target[0].type[0] | BodyStructure |
| GraphDefinition.link[4].target[1].link[1].path[0] | Observation.focus |
| GraphDefinition.link[4].target[1].link[1].min[0] | 0 |
| GraphDefinition.link[4].target[1].link[1].max[0] | 1 |
| GraphDefinition.link[4].target[1].link[1].description[0] | Optional link to specimen the observation is about, if relevant |
| GraphDefinition.link[4].target[1].link[1].target[0].type[0] | Specimen |
| GraphDefinition.link[4].target[1].link[2].path[0] | Observation.performer |
| GraphDefinition.link[4].target[1].link[2].min[0] | 0 |
| GraphDefinition.link[4].target[1].link[2].max[0] | 1 |
| GraphDefinition.link[4].target[1].link[2].description[0] | Optional link to actor who performed the observation (could be Patient, PractitionerRole or RelatedPerson) |
| GraphDefinition.link[4].target[1].link[2].target[0].type[0] | Resource |
| GraphDefinition.link[4].target[1].link[3].path[0] | Observation.hasMember |
| GraphDefinition.link[4].target[1].link[3].min[0] | 0 |
| GraphDefinition.link[4].target[1].link[3].max[0] | * |
| GraphDefinition.link[4].target[1].link[3].description[0] | Optional link to observation if parent observation is a panel |
| GraphDefinition.link[4].target[1].link[3].target[0].type[0] | Observation |
| GraphDefinition.link[4].target[2].type[0] | Condition |
| GraphDefinition.link[4].target[2].link[0].path[0] | Condition.recorder |
| GraphDefinition.link[4].target[2].link[0].min[0] | 0 |
| GraphDefinition.link[4].target[2].link[0].max[0] | 1 |
| GraphDefinition.link[4].target[2].link[0].description[0] | Optional link to actor which recorded condition (could be Patient, PreactitionerRole or RelatedPerson) |
| GraphDefinition.link[4].target[2].link[0].target[0].type[0] | Resource |
| GraphDefinition.link[4].target[2].link[1].path[0] | Condition.asserter |
| GraphDefinition.link[4].target[2].link[1].min[0] | 0 |
| GraphDefinition.link[4].target[2].link[1].max[0] | 1 |
| GraphDefinition.link[4].target[2].link[1].description[0] | Optional link to actor which asserted condition (could be Patient, PreactitionerRole or RelatedPerson) |
| GraphDefinition.link[4].target[2].link[1].target[0].type[0] | Resource |
| GraphDefinition.link[4].target[3].type[0] | Procedure |
| GraphDefinition.link[4].target[4].type[0] | FamilyMemberHistory |
| GraphDefinition.link[4].target[4].link[0].path[0] | FamilyMemberHistory.extension.valueReference |
| GraphDefinition.link[4].target[4].link[0].sliceName[0] | family-member-history-genetics-observation |
| GraphDefinition.link[4].target[4].link[0].min[0] | 0 |
| GraphDefinition.link[4].target[4].link[0].max[0] | * |
| GraphDefinition.link[4].target[4].link[0].description[0] | Optional link to observations related to a FamilyMemberHistory |
| GraphDefinition.link[4].target[4].link[0].target[0].type[0] | Observation |
| GraphDefinition.link[4].target[4].link[1].path[0] | FamilyMemberHistory.extension.valueReference |
| GraphDefinition.link[4].target[4].link[1].sliceName[0] | familymemberhistory-patient-record |
| GraphDefinition.link[4].target[4].link[1].min[0] | 0 |
| GraphDefinition.link[4].target[4].link[1].max[0] | * |
| GraphDefinition.link[4].target[4].link[1].description[0] | Optional link to Patient resources for related family members |
| GraphDefinition.link[4].target[4].link[1].target[0].type[0] | Patient |
| GraphDefinition.link[4].target[5].type[0] | Specimen |
| GraphDefinition.link[4].target[5].link[0].path[0] | Specimen.subject |
| GraphDefinition.link[4].target[5].link[0].min[0] | 1 |
| GraphDefinition.link[4].target[5].link[0].max[0] | 1 |
| GraphDefinition.link[4].target[5].link[0].description[0] | Link to the patient the specimen is from |
| GraphDefinition.link[4].target[5].link[0].target[0].type[0] | Patient |
| GraphDefinition.link[4].target[5].link[1].path[0] | Specimen.parent |
| GraphDefinition.link[4].target[5].link[1].min[0] | 0 |
| GraphDefinition.link[4].target[5].link[1].max[0] | 1 |
| GraphDefinition.link[4].target[5].link[1].description[0] | Link to parent specimen resource |
| GraphDefinition.link[4].target[5].link[1].target[0].type[0] | Specimen |
| GraphDefinition.link[4].target[5].link[2].path[0] | Specimen.collection.collector |
| GraphDefinition.link[4].target[5].link[2].min[0] | 0 |
| GraphDefinition.link[4].target[5].link[2].max[0] | 1 |
| GraphDefinition.link[4].target[5].link[2].description[0] | Link to collector of the specimen |
| GraphDefinition.link[4].target[5].link[2].target[0].type[0] | PractitionerRole |
| GraphDefinition.link[4].target[5].link[3].path[0] | Specimen.collection.bodySite.extension.valueReference |
| GraphDefinition.link[4].target[5].link[3].sliceName[0] | bodySiteReference |
| GraphDefinition.link[4].target[5].link[3].min[0] | 0 |
| GraphDefinition.link[4].target[5].link[3].max[0] | 1 |
| GraphDefinition.link[4].target[5].link[3].description[0] | Link to the body structure detailing the morphology and topography of the specimen |
| GraphDefinition.link[4].target[5].link[3].target[0].type[0] | BodyStructure |
| GraphDefinition.link[4].target[6].type[0] | Consent |
| GraphDefinition.link[4].target[6].link[0].path[0] | Consent.sourceReference |
| GraphDefinition.link[4].target[6].link[0].min[0] | 0 |
| GraphDefinition.link[4].target[6].link[0].max[0] | 1 |
| GraphDefinition.link[4].target[6].link[0].description[0] | Optional link to structured QuestionnaireResponse or DocumentReference for RoD/consent forms |
| GraphDefinition.link[4].target[6].link[0].target[0].type[0] | QuestionnaireResponse |
| GraphDefinition.link[4].target[6].link[0].target[0].link[0].path[0] | QuestionnaireResponse.author |
| GraphDefinition.link[4].target[6].link[0].target[0].link[0].min[0] | 1 |
| GraphDefinition.link[4].target[6].link[0].target[0].link[0].max[0] | 1 |
| GraphDefinition.link[4].target[6].link[0].target[0].link[0].description[0] | Author of the RoD, most likely a PractitionerRole resource (if a reference) |
| GraphDefinition.link[4].target[6].link[0].target[0].link[0].target[0].type[0] | PractitionerRole |
| GraphDefinition.link[4].target[6].link[0].target[0].link[1].path[0] | QuestionnaireResponse.source |
| GraphDefinition.link[4].target[6].link[0].target[0].link[1].min[0] | 1 |
| GraphDefinition.link[4].target[6].link[0].target[0].link[1].max[0] | 1 |
| GraphDefinition.link[4].target[6].link[0].target[0].link[1].description[0] | Source of the RoD (could be Patient, PractitionerRole or RelatedPerson) |
| GraphDefinition.link[4].target[6].link[0].target[0].link[1].target[0].type[0] | Resource |
| GraphDefinition.link[4].target[6].link[0].target[1].type[0] | DocumentReference |
| GraphDefinition.link[4].target[6].link[1].path[0] | Consent.patient |
| GraphDefinition.link[4].target[6].link[1].min[0] | 1 |
| GraphDefinition.link[4].target[6].link[1].max[0] | 1 |
| GraphDefinition.link[4].target[6].link[1].description[0] | Link to Patient resource (relevant for instances where the consent does not apply to the proband) |
| GraphDefinition.link[4].target[6].link[1].target[0].type[0] | Patient |
| GraphDefinition.link[4].target[7].type[0] | QuestionnaireResponse |
| GraphDefinition.link[4].target[8].type[0] | Condition |
| GraphDefinition.link[5].path[0] | ServiceRequest.specimen |
| GraphDefinition.link[5].min[0] | 0 |
| GraphDefinition.link[5].max[0] | * |
| GraphDefinition.link[5].description[0] | Optional link to specimen where this has already been collected/ordered prior to request submission |
| GraphDefinition.link[5].target[0].type[0] | Specimen |
| GraphDefinition.link[5].target[0].params[0] | request={ref} |
| GraphDefinition.link[5].target[0].link[0].path[0] | Specimen.subject |
| GraphDefinition.link[5].target[0].link[0].min[0] | 1 |
| GraphDefinition.link[5].target[0].link[0].max[0] | 1 |
| GraphDefinition.link[5].target[0].link[0].description[0] | Link to the patient the specimen is from |
| GraphDefinition.link[5].target[0].link[0].target[0].type[0] | Patient |
| GraphDefinition.link[5].target[0].link[1].path[0] | Specimen.parent |
| GraphDefinition.link[5].target[0].link[1].min[0] | 0 |
| GraphDefinition.link[5].target[0].link[1].max[0] | 1 |
| GraphDefinition.link[5].target[0].link[1].description[0] | Link to parent specimen resource |
| GraphDefinition.link[5].target[0].link[1].target[0].type[0] | Specimen |
| GraphDefinition.link[5].target[0].link[2].path[0] | Specimen.collection.collector |
| GraphDefinition.link[5].target[0].link[2].min[0] | 0 |
| GraphDefinition.link[5].target[0].link[2].max[0] | 1 |
| GraphDefinition.link[5].target[0].link[2].description[0] | Link to collector of the specimen |
| GraphDefinition.link[5].target[0].link[2].target[0].type[0] | PractitionerRole |
| GraphDefinition.link[5].target[0].link[3].path[0] | Specimen.collection.bodySite.extension.valueReference |
| GraphDefinition.link[5].target[0].link[3].sliceName[0] | bodySiteReference |
| GraphDefinition.link[5].target[0].link[3].min[0] | 0 |
| GraphDefinition.link[5].target[0].link[3].max[0] | 1 |
| GraphDefinition.link[5].target[0].link[3].description[0] | Link to the body structure detailing the morphology and topography of the specimen |
| GraphDefinition.link[5].target[0].link[3].target[0].type[0] | BodyStructure |
| GraphDefinition.link[6].min[0] | 0 |
| GraphDefinition.link[6].max[0] | * |
| GraphDefinition.link[6].description[0] | Other ServiceRequests in the trio with the same requisition identifier |
| GraphDefinition.link[6].target[0].type[0] | ServiceRequest |
| GraphDefinition.link[6].target[0].params[0] | requisition={ServiceRequest.requisition} |
| GraphDefinition.link[6].target[0].link[0].path[0] | ServiceRequest.extension.valueReference |
| GraphDefinition.link[6].target[0].link[0].sliceName[0] | additionalContact |
| GraphDefinition.link[6].target[0].link[0].min[0] | 0 |
| GraphDefinition.link[6].target[0].link[0].max[0] | * |
| GraphDefinition.link[6].target[0].link[0].description[0] | Link to additional contacts for request |
| GraphDefinition.link[6].target[0].link[0].target[0].type[0] | PractitionerRole |
| GraphDefinition.link[6].target[0].link[1].path[0] | ServiceRequest.subject |
| GraphDefinition.link[6].target[0].link[1].min[0] | 1 |
| GraphDefinition.link[6].target[0].link[1].max[0] | 1 |
| GraphDefinition.link[6].target[0].link[1].description[0] | Link to the patient the request is for (proband, father, or mother) |
| GraphDefinition.link[6].target[0].link[1].target[0].type[0] | Patient |
| GraphDefinition.link[6].target[0].link[2].path[0] | ServiceRequest.requester |
| GraphDefinition.link[6].target[0].link[2].min[0] | 1 |
| GraphDefinition.link[6].target[0].link[2].max[0] | 1 |
| GraphDefinition.link[6].target[0].link[2].description[0] | Link to the requester of the genomic test order |
| GraphDefinition.link[6].target[0].link[2].target[0].type[0] | PractitionerRole |
| GraphDefinition.link[6].target[0].link[3].path[0] | ServiceRequest.reasonReference |
| GraphDefinition.link[6].target[0].link[3].min[0] | 0 |
| GraphDefinition.link[6].target[0].link[3].max[0] | * |
| GraphDefinition.link[6].target[0].link[3].description[0] | Optional link to the primary condition constituting the reason for testing |
| GraphDefinition.link[6].target[0].link[3].target[0].type[0] | Condition |
| GraphDefinition.link[6].target[0].link[4].path[0] | ServiceRequest.supportingInfo |
| GraphDefinition.link[6].target[0].link[4].min[0] | 0 |
| GraphDefinition.link[6].target[0].link[4].max[0] | * |
| GraphDefinition.link[6].target[0].link[4].description[0] | Link to additional clinical information to support processing/interpretation of the request |
| GraphDefinition.link[6].target[0].link[4].target[0].type[0] | RelatedPerson |
| GraphDefinition.link[6].target[0].link[4].target[0].link[0].min[0] | 1 |
| GraphDefinition.link[6].target[0].link[4].target[0].link[0].max[0] | 1 |
| GraphDefinition.link[6].target[0].link[4].target[0].link[0].description[0] | Patient linked to this RelatedPerson |
| GraphDefinition.link[6].target[0].link[4].target[0].link[0].target[0].type[0] | Patient |
| GraphDefinition.link[6].target[0].link[4].target[0].link[0].target[0].params[0] | link={ref} |
| GraphDefinition.link[6].target[0].link[4].target[1].type[0] | Observation |
| GraphDefinition.link[6].target[0].link[4].target[1].link[0].path[0] | Observation.extension.valueReference |
| GraphDefinition.link[6].target[0].link[4].target[1].link[0].min[0] | 0 |
| GraphDefinition.link[6].target[0].link[4].target[1].link[0].max[0] | 1 |
| GraphDefinition.link[6].target[0].link[4].target[1].link[0].description[0] | Optional link to body structure related to the observation |
| GraphDefinition.link[6].target[0].link[4].target[1].link[0].target[0].type[0] | BodyStructure |
| GraphDefinition.link[6].target[0].link[4].target[1].link[1].path[0] | Observation.focus |
| GraphDefinition.link[6].target[0].link[4].target[1].link[1].min[0] | 0 |
| GraphDefinition.link[6].target[0].link[4].target[1].link[1].max[0] | 1 |
| GraphDefinition.link[6].target[0].link[4].target[1].link[1].description[0] | Optional link to specimen the observation is about, if relevant |
| GraphDefinition.link[6].target[0].link[4].target[1].link[1].target[0].type[0] | Specimen |
| GraphDefinition.link[6].target[0].link[4].target[1].link[2].path[0] | Observation.performer |
| GraphDefinition.link[6].target[0].link[4].target[1].link[2].min[0] | 0 |
| GraphDefinition.link[6].target[0].link[4].target[1].link[2].max[0] | 1 |
| GraphDefinition.link[6].target[0].link[4].target[1].link[2].description[0] | Optional link to actor who performed the observation (could be Patient, PractitionerRole or RelatedPerson) |
| GraphDefinition.link[6].target[0].link[4].target[1].link[2].target[0].type[0] | Resource |
| GraphDefinition.link[6].target[0].link[4].target[1].link[3].path[0] | Observation.hasMember |
| GraphDefinition.link[6].target[0].link[4].target[1].link[3].min[0] | 0 |
| GraphDefinition.link[6].target[0].link[4].target[1].link[3].max[0] | * |
| GraphDefinition.link[6].target[0].link[4].target[1].link[3].description[0] | Optional link to observation if parent observation is a panel |
| GraphDefinition.link[6].target[0].link[4].target[1].link[3].target[0].type[0] | Observation |
| GraphDefinition.link[6].target[0].link[4].target[2].type[0] | Condition |
| GraphDefinition.link[6].target[0].link[4].target[2].link[0].path[0] | Condition.recorder |
| GraphDefinition.link[6].target[0].link[4].target[2].link[0].min[0] | 0 |
| GraphDefinition.link[6].target[0].link[4].target[2].link[0].max[0] | 1 |
| GraphDefinition.link[6].target[0].link[4].target[2].link[0].description[0] | Optional link to actor which recorded condition (could be Patient, PreactitionerRole or RelatedPerson) |
| GraphDefinition.link[6].target[0].link[4].target[2].link[0].target[0].type[0] | Resource |
| GraphDefinition.link[6].target[0].link[4].target[2].link[1].path[0] | Condition.asserter |
| GraphDefinition.link[6].target[0].link[4].target[2].link[1].min[0] | 0 |
| GraphDefinition.link[6].target[0].link[4].target[2].link[1].max[0] | 1 |
| GraphDefinition.link[6].target[0].link[4].target[2].link[1].description[0] | Optional link to actor which asserted condition (could be Patient, PreactitionerRole or RelatedPerson) |
| GraphDefinition.link[6].target[0].link[4].target[2].link[1].target[0].type[0] | Resource |
| GraphDefinition.link[6].target[0].link[4].target[3].type[0] | Procedure |
| GraphDefinition.link[6].target[0].link[4].target[4].type[0] | FamilyMemberHistory |
| GraphDefinition.link[6].target[0].link[4].target[4].link[0].path[0] | FamilyMemberHistory.extension.valueReference |
| GraphDefinition.link[6].target[0].link[4].target[4].link[0].sliceName[0] | family-member-history-genetics-observation |
| GraphDefinition.link[6].target[0].link[4].target[4].link[0].min[0] | 0 |
| GraphDefinition.link[6].target[0].link[4].target[4].link[0].max[0] | * |
| GraphDefinition.link[6].target[0].link[4].target[4].link[0].description[0] | Optional link to observations related to a FamilyMemberHistory |
| GraphDefinition.link[6].target[0].link[4].target[4].link[0].target[0].type[0] | Observation |
| GraphDefinition.link[6].target[0].link[4].target[4].link[1].path[0] | FamilyMemberHistory.extension.valueReference |
| GraphDefinition.link[6].target[0].link[4].target[4].link[1].sliceName[0] | familymemberhistory-patient-record |
| GraphDefinition.link[6].target[0].link[4].target[4].link[1].min[0] | 0 |
| GraphDefinition.link[6].target[0].link[4].target[4].link[1].max[0] | * |
| GraphDefinition.link[6].target[0].link[4].target[4].link[1].description[0] | Optional link to Patient resources for related family members |
| GraphDefinition.link[6].target[0].link[4].target[4].link[1].target[0].type[0] | Patient |
| GraphDefinition.link[6].target[0].link[4].target[5].type[0] | Specimen |
| GraphDefinition.link[6].target[0].link[4].target[5].link[0].path[0] | Specimen.subject |
| GraphDefinition.link[6].target[0].link[4].target[5].link[0].min[0] | 1 |
| GraphDefinition.link[6].target[0].link[4].target[5].link[0].max[0] | 1 |
| GraphDefinition.link[6].target[0].link[4].target[5].link[0].description[0] | Link to the patient the specimen is from |
| GraphDefinition.link[6].target[0].link[4].target[5].link[0].target[0].type[0] | Patient |
| GraphDefinition.link[6].target[0].link[4].target[5].link[1].path[0] | Specimen.parent |
| GraphDefinition.link[6].target[0].link[4].target[5].link[1].min[0] | 0 |
| GraphDefinition.link[6].target[0].link[4].target[5].link[1].max[0] | 1 |
| GraphDefinition.link[6].target[0].link[4].target[5].link[1].description[0] | Link to parent specimen resource |
| GraphDefinition.link[6].target[0].link[4].target[5].link[1].target[0].type[0] | Specimen |
| GraphDefinition.link[6].target[0].link[4].target[5].link[2].path[0] | Specimen.collection.collector |
| GraphDefinition.link[6].target[0].link[4].target[5].link[2].min[0] | 0 |
| GraphDefinition.link[6].target[0].link[4].target[5].link[2].max[0] | 1 |
| GraphDefinition.link[6].target[0].link[4].target[5].link[2].description[0] | Link to collector of the specimen |
| GraphDefinition.link[6].target[0].link[4].target[5].link[2].target[0].type[0] | PractitionerRole |
| GraphDefinition.link[6].target[0].link[4].target[5].link[3].path[0] | Specimen.collection.bodySite.extension.valueReference |
| GraphDefinition.link[6].target[0].link[4].target[5].link[3].sliceName[0] | bodySiteReference |
| GraphDefinition.link[6].target[0].link[4].target[5].link[3].min[0] | 0 |
| GraphDefinition.link[6].target[0].link[4].target[5].link[3].max[0] | 1 |
| GraphDefinition.link[6].target[0].link[4].target[5].link[3].description[0] | Link to the body structure detailing the morphology and topography of the specimen |
| GraphDefinition.link[6].target[0].link[4].target[5].link[3].target[0].type[0] | BodyStructure |
| GraphDefinition.link[6].target[0].link[4].target[6].type[0] | Consent |
| GraphDefinition.link[6].target[0].link[4].target[6].link[0].path[0] | Consent.sourceReference |
| GraphDefinition.link[6].target[0].link[4].target[6].link[0].min[0] | 0 |
| GraphDefinition.link[6].target[0].link[4].target[6].link[0].max[0] | 1 |
| GraphDefinition.link[6].target[0].link[4].target[6].link[0].description[0] | Optional link to structured QuestionnaireResponse or DocumentReference for RoD/consent forms |
| GraphDefinition.link[6].target[0].link[4].target[6].link[0].target[0].type[0] | QuestionnaireResponse |
| GraphDefinition.link[6].target[0].link[4].target[6].link[0].target[0].link[0].path[0] | QuestionnaireResponse.author |
| GraphDefinition.link[6].target[0].link[4].target[6].link[0].target[0].link[0].min[0] | 1 |
| GraphDefinition.link[6].target[0].link[4].target[6].link[0].target[0].link[0].max[0] | 1 |
| GraphDefinition.link[6].target[0].link[4].target[6].link[0].target[0].link[0].description[0] | Author of the RoD, most likely a PractitionerRole resource (if a reference) |
| GraphDefinition.link[6].target[0].link[4].target[6].link[0].target[0].link[0].target[0].type[0] | PractitionerRole |
| GraphDefinition.link[6].target[0].link[4].target[6].link[0].target[0].link[1].path[0] | QuestionnaireResponse.source |
| GraphDefinition.link[6].target[0].link[4].target[6].link[0].target[0].link[1].min[0] | 1 |
| GraphDefinition.link[6].target[0].link[4].target[6].link[0].target[0].link[1].max[0] | 1 |
| GraphDefinition.link[6].target[0].link[4].target[6].link[0].target[0].link[1].description[0] | Source of the RoD (could be Patient, PractitionerRole or RelatedPerson) |
| GraphDefinition.link[6].target[0].link[4].target[6].link[0].target[0].link[1].target[0].type[0] | Resource |
| GraphDefinition.link[6].target[0].link[4].target[6].link[0].target[1].type[0] | DocumentReference |
| GraphDefinition.link[6].target[0].link[4].target[6].link[1].path[0] | Consent.patient |
| GraphDefinition.link[6].target[0].link[4].target[6].link[1].min[0] | 1 |
| GraphDefinition.link[6].target[0].link[4].target[6].link[1].max[0] | 1 |
| GraphDefinition.link[6].target[0].link[4].target[6].link[1].description[0] | Link to Patient resource (relevant for instances where the consent does not apply to the proband) |
| GraphDefinition.link[6].target[0].link[4].target[6].link[1].target[0].type[0] | Patient |
| GraphDefinition.link[6].target[0].link[4].target[7].type[0] | QuestionnaireResponse |
| GraphDefinition.link[6].target[0].link[4].target[8].type[0] | Condition |
| GraphDefinition.link[6].target[0].link[5].path[0] | ServiceRequest.specimen |
| GraphDefinition.link[6].target[0].link[5].min[0] | 0 |
| GraphDefinition.link[6].target[0].link[5].max[0] | * |
| GraphDefinition.link[6].target[0].link[5].description[0] | Optional link to specimen where this has already been collected/ordered prior to request submission |
| GraphDefinition.link[6].target[0].link[5].target[0].type[0] | Specimen |
| GraphDefinition.link[6].target[0].link[5].target[0].params[0] | request={ref} |
| GraphDefinition.link[6].target[0].link[5].target[0].link[0].path[0] | Specimen.subject |
| GraphDefinition.link[6].target[0].link[5].target[0].link[0].min[0] | 1 |
| GraphDefinition.link[6].target[0].link[5].target[0].link[0].max[0] | 1 |
| GraphDefinition.link[6].target[0].link[5].target[0].link[0].description[0] | Link to the patient the specimen is from |
| GraphDefinition.link[6].target[0].link[5].target[0].link[0].target[0].type[0] | Patient |
| GraphDefinition.link[6].target[0].link[5].target[0].link[1].path[0] | Specimen.parent |
| GraphDefinition.link[6].target[0].link[5].target[0].link[1].min[0] | 0 |
| GraphDefinition.link[6].target[0].link[5].target[0].link[1].max[0] | 1 |
| GraphDefinition.link[6].target[0].link[5].target[0].link[1].description[0] | Link to parent specimen resource |
| GraphDefinition.link[6].target[0].link[5].target[0].link[1].target[0].type[0] | Specimen |
| GraphDefinition.link[6].target[0].link[5].target[0].link[2].path[0] | Specimen.collection.collector |
| GraphDefinition.link[6].target[0].link[5].target[0].link[2].min[0] | 0 |
| GraphDefinition.link[6].target[0].link[5].target[0].link[2].max[0] | 1 |
| GraphDefinition.link[6].target[0].link[5].target[0].link[2].description[0] | Link to collector of the specimen |
| GraphDefinition.link[6].target[0].link[5].target[0].link[2].target[0].type[0] | PractitionerRole |
| GraphDefinition.link[6].target[0].link[5].target[0].link[3].path[0] | Specimen.collection.bodySite.extension.valueReference |
| GraphDefinition.link[6].target[0].link[5].target[0].link[3].sliceName[0] | bodySiteReference |
| GraphDefinition.link[6].target[0].link[5].target[0].link[3].min[0] | 0 |
| GraphDefinition.link[6].target[0].link[5].target[0].link[3].max[0] | 1 |
| GraphDefinition.link[6].target[0].link[5].target[0].link[3].description[0] | Link to the body structure detailing the morphology and topography of the specimen |
| GraphDefinition.link[6].target[0].link[5].target[0].link[3].target[0].type[0] | BodyStructure |