diff --git a/GraphDefinition/GraphDefinition-Genomics-TrioResultGrouping-Example.json b/GraphDefinition/GraphDefinition-Genomics-ResultsGroup-Example.json similarity index 92% rename from GraphDefinition/GraphDefinition-Genomics-TrioResultGrouping-Example.json rename to GraphDefinition/GraphDefinition-Genomics-ResultsGroup-Example.json index 2f88a48..7f4c4b7 100644 --- a/GraphDefinition/GraphDefinition-Genomics-TrioResultGrouping-Example.json +++ b/GraphDefinition/GraphDefinition-Genomics-ResultsGroup-Example.json @@ -1,11 +1,11 @@ { "resourceType": "GraphDefinition", - "id": "GraphDefinition-Genomics-TrioResultGrouping-Example", - "url": "https://fhir.nhs.uk/GraphDefinition/genomics-trio-result-grouping", - "name": "GenomicsTrioResultGrouping", - "version": "0.1.0", + "id": "GraphDefinition-Genomics-ResultsGroup-Example", + "url": "https://fhir.nhs.uk/GraphDefinition/genomics-results-group", + "name": "GenomicsResultsGroup", + "version": "0.2.0", "status": "draft", - "date": "2026-01-13", + "date": "2026-03-24", "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", @@ -146,8 +146,8 @@ ] }, { - "path": "Specimen.collection.bodySite.extension('http://hl7.org/fhir/5.0/StructureDefinition/extension-Specimen.collection.bodySite').valueReference", - "sliceName": "ext-R5-Specimen.co.bodySite", + "path": "Specimen.collection.extension('http://hl7.org/fhir/StructureDefinition/bodySite').valueReference", + "sliceName": "bodySite", "description": "Link to the body structure detailing the morphology and topography of the specimen", "min": 0, "max": "1", diff --git a/GraphDefinition/GraphDefinition-Genomics-Test-Order.json b/GraphDefinition/GraphDefinition-Genomics-Test-Order.json index 71e96b7..aedaaf4 100644 --- a/GraphDefinition/GraphDefinition-Genomics-Test-Order.json +++ b/GraphDefinition/GraphDefinition-Genomics-Test-Order.json @@ -1,378 +1,378 @@ { - "resourceType": "GraphDefinition", - "id": "GraphDefinition-Genomics-test-order", - "url": "https://fhir.nhs.uk/GraphDefinition/genomics-test-order", - "name": "GenomicsTestOrder", - "version": "0.2.0", - "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": [ + "resourceType": "GraphDefinition", + "id": "GraphDefinition-Genomics-test-order", + "url": "https://fhir.nhs.uk/GraphDefinition/genomics-test-order", + "name": "GenomicsTestOrder", + "version": "0.3.0", + "status": "draft", + "date": "2026-03-24", + "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", + "description": "Link to additional contacts for request", + "min": 0, + "max": "*", + "target": [ { - "path": "ServiceRequest.extension.valueReference", - "sliceName": "additionalContact", - "description": "Link to additional contacts for request", - "min": 0, - "max": "*", - "target": [ + "type": "PractitionerRole" + } + ] + }, + { + "path": "ServiceRequest.basedOn", + "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", + "min": 0, + "max": "1", + "target": [ + { + "type": "ServiceRequest" + } + ] + }, + { + "path": "ServiceRequest.subject", + "description": "Link to patient the request is for", + "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": "1", + "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": "PractitionerRole" + "type": "Patient", + "params": "link={ref}" } - ] + ] + } + ] }, { - "path": "ServiceRequest.basedOn", - "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", - "min": 0, - "max": "1", - "target": [ + "type": "Observation", + "link": [ + { + "path": "Observation.extension.valueReference", + "description": "Optional link to body structure related to the observation", + "min": 0, + "max": "1", + "target": [ { - "type": "ServiceRequest" + "type": "BodyStructure" } - ] - }, - { - "path": "ServiceRequest.subject", - "description": "Link to patient the request is for", - "min": 1, - "max": "1", - "target": [ + ] + }, + { + "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": "Patient" + "type": "Resource" } - ] + ] + }, + { + "path": "Observation.hasMember", + "description": "Optional link to observation if parent observation is a panel", + "min": 0, + "max": "*", + "target": [ + { + "type": "Observation" + } + ] + } + ] }, { - "path": "ServiceRequest.requester", - "description": "Link to the requester of the genomic test order", - "min": 1, - "max": "1", - "target": [ + "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": "PractitionerRole" + "type": "Resource" } - ] + ] + } + ] }, { - "path": "ServiceRequest.reasonReference", - "description": "Optional link to the primary condition constituting the reason for testing", - "min": 0, - "max": "1", - "target": [ + "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": "Condition" + "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" + } + ] + } + ] }, { - "path": "ServiceRequest.supportingInfo", - "description": "Link to additional clinical information to support processing/interpretation of the request", - "min": 0, - "max": "*", - "target": [ + "type": "DocumentReference" + }, + { + "type": "DiagnosticReport" + }, + { + "type": "Consent", + "link": [ + { + "path": "Consent.sourceReference", + "description": "Optional link to structured QuestionnaireResponse or DocumentReference for RoD/consent forms", + "min": 0, + "max": "1", + "target": [ { - "type": "RelatedPerson", - "link": [ + "type": "QuestionnaireResponse", + "link": [ + { + "path": "QuestionnaireResponse.author", + "description": "Author of the RoD, most likely a PractitionerRole resource (if a reference)", + "min": 1, + "max": "1", + "target": [ { - "description": "Patient linked to this RelatedPerson", - "min": 1, - "max": "1", - "target": [ - { - "type": "Patient", - "params": "link={ref}" - } - ] + "type": "PractitionerRole" } - ] - }, - { - "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": "QuestionnaireResponse.source", + "description": "Source of the RoD (could be Patient, PractitionerRole or RelatedPerson)", + "min": 1, + "max": "1", + "target": [ { - "path": "Observation.hasMember", - "description": "Optional link to observation if parent observation is a panel", - "min": 0, - "max": "*", - "target": [ - { - "type": "Observation" - } - ] + "type": "Resource" } - ] + ] + } + ] }, { - "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": "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": "Procedure" - }, + "type": "Patient" + } + ] + } + ] + } + ] + }, + { + "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", + "link": [ + { + "path": "Specimen.subject", + "description": "Link to the patient the specimen is from", + "min": 1, + "max": "1", + "target": [ { - "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": "Patient" + } + ] + }, + { + "path": "Specimen.parent", + "description": "Link to parent specimen resource", + "min": 0, + "max": "1", + "target": [ { - "type": "DocumentReference" - }, + "type": "Specimen" + } + ] + }, + { + "path": "Specimen.collection.collector", + "description": "Link to collector of the specimen", + "min": 0, + "max": "1", + "target": [ { - "type": "DiagnosticReport" - }, + "type": "PractitionerRole" + } + ] + }, + { + "path": "Specimen.collection.extension('http://hl7.org/fhir/StructureDefinition/bodySite').valueReference", + "sliceName": "bodySite", + "description": "Link to the body structure detailing the morphology and topography of the specimen", + "min": 0, + "max": "1", + "target": [ { - "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": "BodyStructure" } - ] - }, + ] + } + ] + } + ] + }, + { + "description": "Specimen resources referencing this ServiceRequest", + "min": 0, + "max": "*", + "target": [ { - "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": "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('http://hl7.org/fhir/5.0/StructureDefinition/extension-Specimen.collection.bodySite').valueReference", - "sliceName": "ext-R5-Specimen.co.bodySite", - "description": "Link to the body structure detailing the morphology and topography of the specimen", - "min": 0, - "max": "1", - "target": [ - { - "type": "BodyStructure" - } - ] - } - ] + "type": "Patient" } - ] - }, - { - "description": "Specimen resources referencing this ServiceRequest", - "min": 0, - "max": "*", - "target": [ + ] + }, + { + "path": "Specimen.parent", + "description": "Link to parent specimen resource", + "min": 0, + "max": "1", + "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('http://hl7.org/fhir/5.0/StructureDefinition/extension-Specimen.collection.bodySite').valueReference", - "sliceName": "ext-R5-Specimen.co.bodySite", - "description": "Link to the body structure detailing the morphology and topography of the specimen", - "min": 0, - "max": "1", - "target": [ - { - "type": "BodyStructure" - } - ] - } - ] + "type": "Specimen" + } + ] + }, + { + "path": "Specimen.collection.collector", + "description": "Link to collector of the specimen", + "min": 0, + "max": "1", + "target": [ + { + "type": "PractitionerRole" + } + ] + }, + { + "path": "Specimen.collection.extension('http://hl7.org/fhir/StructureDefinition/bodySite').valueReference", + "sliceName": "bodySite", + "description": "Link to the body structure detailing the morphology and topography of the specimen", + "min": 0, + "max": "1", + "target": [ + { + "type": "BodyStructure" } - ] + ] + } + ] } - ] + ] + } + ] } \ No newline at end of file diff --git a/GraphDefinition/GraphDefinition-Genomics-Test-Result.json b/GraphDefinition/GraphDefinition-Genomics-Test-Result.json index ebfc508..c86c9d7 100644 --- a/GraphDefinition/GraphDefinition-Genomics-Test-Result.json +++ b/GraphDefinition/GraphDefinition-Genomics-Test-Result.json @@ -1,182 +1,182 @@ { - "resourceType": "GraphDefinition", - "id": "GraphDefinition-genomics-test-result", - "url": "https://fhir.nhs.uk/GraphDefinition/genomics-test-result", - "name": "GenomicsTestResult", - "version": "0.1.0", - "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": [ + "resourceType": "GraphDefinition", + "id": "GraphDefinition-genomics-test-result", + "url": "https://fhir.nhs.uk/GraphDefinition/genomics-test-result", + "name": "GenomicsTestResult", + "version": "0.2.0", + "status": "draft", + "date": "2026-03-24", + "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", + "description": "Further actions recommended by the report", + "min": 0, + "max": "*", + "target": [ { - "path": "DiagnosticReport.extension.valueReference", - "sliceName": "recommended-action", - "description": "Further actions recommended by the report", - "min": 0, - "max": "*", - "target": [ - { - "type": "Task" - } - ] - }, + "type": "Task" + } + ] + }, + { + "path": "DiagnosticReport.extension.valueReference", + "sliceName": "genomic-study", + "description": "The set of analyses performed to generate/analyse the genomic data", + "min": 0, + "max": "*", + "target": [ { - "path": "DiagnosticReport.extension.valueReference", - "sliceName": "genomic-study", - "description": "The set of analyses performed to generate/analyse the genomic data", - "min": 0, - "max": "*", - "target": [ + "type": "Procedure", + "link": [ + { + "path": "Procedure.extension.valueReference", + "sliceName": "genomic-study-analysis", + "description": "Component of genomic study", + "min": 0, + "max": "*", + "target": [ { - "type": "Procedure", - "link": [ - { - "path": "Procedure.extension.valueReference", - "sliceName": "genomic-study-analysis", - "description": "Component of genomic study", - "min": 0, - "max": "*", - "target": [ - { - "type": "Procedure" - } - ] - } - ] + "type": "Procedure" } - ] + ] + } + ] + } + ] + }, + { + "path": "DiagnosticReport.extension.valueReference", + "sliceName": "supporting-info", + "description": "Supporting Info references, used to capture clinical information and references to Genomic Data Files", + "min": 0, + "max": "*", + "target": [ + { + "type": "DocumentReference" }, { - "path": "DiagnosticReport.extension.valueReference", - "sliceName": "supporting-info", - "description": "Supporting Info references, used to capture clinical information and references to Genomic Data Files", - "min": 0, - "max": "*", - "target": [ + "type": "Resource" + } + ] + }, + { + "path": "DiagnosticReport.basedOn", + "description": "Link to request this DiagnosticReport is in fulfillment of", + "min": 1, + "max": "1", + "target": [ + { + "type": "ServiceRequest" + } + ] + }, + { + "path": "DiagnosticReport.subject", + "description": "Link to the patient the report is concerning", + "min": 1, + "max": "1", + "target": [ + { + "type": "Patient" + } + ] + }, + { + "path": "DiagnosticReport.specimen", + "description": "Link to the specimens used during testing to generate the report", + "min": 0, + "max": "*", + "target": [ + { + "type": "Specimen", + "link": [ + { + "path": "Specimen.subject", + "description": "Link to the patient the specimen is from", + "min": 1, + "max": "1", + "target": [ { - "type": "DocumentReference" - }, + "type": "Patient" + } + ] + }, + { + "path": "Specimen.parent", + "description": "Link to parent specimen resource", + "min": 0, + "max": "1", + "target": [ { - "type": "Resource" + "type": "Specimen" } - ] - }, - { - "path": "DiagnosticReport.basedOn", - "description": "Link to request this DiagnosticReport is in fulfillment of", - "min": 1, - "max": "1", - "target": [ + ] + }, + { + "path": "Specimen.collection.collector", + "description": "Link to collector of the specimen", + "min": 0, + "max": "1", + "target": [ { - "type": "ServiceRequest" + "type": "PractitionerRole" } - ] - }, - { - "path": "DiagnosticReport.subject", - "description": "Link to the patient the report is concerning", - "min": 1, - "max": "1", - "target": [ + ] + }, + { + "path": "Specimen.collection.extension('http://hl7.org/fhir/StructureDefinition/bodySite').valueReference", + "sliceName": "bodySite", + "description": "Link to the body structure detailing the morphology and topography of the specimen", + "min": 0, + "max": "1", + "target": [ { - "type": "Patient" + "type": "BodyStructure" } - ] - }, + ] + } + ] + } + ] + }, + { + "path": "DiagnosticReport.result", + "description": "Links to Observations forming the results reported in the DiagnosticReport", + "min": 0, + "max": "*", + "target": [ { - "path": "DiagnosticReport.specimen", - "description": "Link to the specimens used during testing to generate the report", - "min": 0, - "max": "*", - "target": [ + "type": "Observation", + "link": [ + { + "path": "Observation.performer", + "description": "Optional link to actor who performed the observation (could be Patient, PractitionerRole or RelatedPerson)", + "min": 0, + "max": "1", + "target": [ { - "type": "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('http://hl7.org/fhir/5.0/StructureDefinition/extension-Specimen.collection.bodySite').valueReference", - "sliceName": "ext-R5-Specimen.co.bodySite", - "description": "Link to the body structure detailing the morphology and topography of the specimen", - "min": 0, - "max": "1", - "target": [ - { - "type": "BodyStructure" - } - ] - } - ] + "type": "Resource" } - ] - }, - { - "path": "DiagnosticReport.result", - "description": "Links to Observations forming the results reported in the DiagnosticReport", - "min": 0, - "max": "*", - "target": [ + ] + }, + { + "path": "Observation.hasMember", + "description": "Optional link to observation if parent observation is a panel", + "min": 0, + "max": "*", + "target": [ { - "type": "Observation", - "link": [ - { - "path": "Observation.performer", - "description": "Optional link to actor who performed the observation (could be Patient, PractitionerRole or RelatedPerson)", - "min": 0, - "max": "1", - "target": [ - { - "type": "Resource" - } - ] - }, - { - "path": "Observation.hasMember", - "description": "Optional link to observation if parent observation is a panel", - "min": 0, - "max": "*", - "target": [ - { - "type": "Observation" - } - ] - } - ] + "type": "Observation" } - ] + ] + } + ] } - ] + ] + } + ] } \ No newline at end of file diff --git a/GraphDefinition/GraphDefinition-Genomics-TrioTestOrder-Example.json b/GraphDefinition/GraphDefinition-Genomics-TestOrdersGroup-Example.json similarity index 94% rename from GraphDefinition/GraphDefinition-Genomics-TrioTestOrder-Example.json rename to GraphDefinition/GraphDefinition-Genomics-TestOrdersGroup-Example.json index c6671c1..3e881a5 100644 --- a/GraphDefinition/GraphDefinition-Genomics-TrioTestOrder-Example.json +++ b/GraphDefinition/GraphDefinition-Genomics-TestOrdersGroup-Example.json @@ -1,11 +1,11 @@ { "resourceType": "GraphDefinition", - "id": "GraphDefinition-GenomicsTrioTestOrder-Example", - "url": "https://fhir.nhs.uk/GraphDefinition/genomics-trio-test-order", - "name": "GenomicsTrioTestOrder", - "version": "0.1.0", + "id": "GraphDefinition-Genomics-TestOrdersGroup-Example", + "url": "https://fhir.nhs.uk/GraphDefinition/genomics-test-orders-group", + "name": "GenomicsTestOrdersGroup", + "version": "0.2.0", "status": "draft", - "date": "2026-01-13", + "date": "2026-03-24", "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", @@ -222,8 +222,8 @@ ] }, { - "path": "Specimen.collection.bodySite.extension('http://hl7.org/fhir/5.0/StructureDefinition/extension-Specimen.collection.bodySite').valueReference", - "sliceName": "ext-R5-Specimen.co.bodySite", + "path": "Specimen.collection.extension('http://hl7.org/fhir/StructureDefinition/bodySite').valueReference", + "sliceName": "bodySite", "description": "Link to the body structure detailing the morphology and topography of the specimen", "min": 0, "max": "1", @@ -341,8 +341,8 @@ ] }, { - "path": "Specimen.collection.bodySite.extension('http://hl7.org/fhir/5.0/StructureDefinition/extension-Specimen.collection.bodySite').valueReference", - "sliceName": "ext-R5-Specimen.co.bodySite", + "path": "Specimen.collection.extension('http://hl7.org/fhir/StructureDefinition/bodySite').valueReference", + "sliceName": "bodySite", "description": "Link to the body structure detailing the morphology and topography of the specimen", "min": 0, "max": "1", @@ -577,8 +577,8 @@ ] }, { - "path": "Specimen.collection.bodySite.extension('http://hl7.org/fhir/5.0/StructureDefinition/extension-Specimen.collection.bodySite').valueReference", - "sliceName": "ext-R5-Specimen.co.bodySite", + "path": "Specimen.collection.extension('http://hl7.org/fhir/StructureDefinition/bodySite').valueReference", + "sliceName": "bodySite", "description": "Link to the body structure detailing the morphology and topography of the specimen", "min": 0, "max": "1", @@ -696,8 +696,8 @@ ] }, { - "path": "Specimen.collection.bodySite.extension('http://hl7.org/fhir/5.0/StructureDefinition/extension-Specimen.collection.bodySite').valueReference", - "sliceName": "ext-R5-Specimen.co.bodySite", + "path": "Specimen.collection.extension('http://hl7.org/fhir/StructureDefinition/bodySite').valueReference", + "sliceName": "bodySite", "description": "Link to the body structure detailing the morphology and topography of the specimen", "min": 0, "max": "1", diff --git a/Specimen/Specimen-ExtensionBodySiteReferenceR5-Example.json b/Specimen/Specimen-ExtensionBodySiteReference-Example.json similarity index 69% rename from Specimen/Specimen-ExtensionBodySiteReferenceR5-Example.json rename to Specimen/Specimen-ExtensionBodySiteReference-Example.json index b6dbcc2..a7291da 100644 --- a/Specimen/Specimen-ExtensionBodySiteReferenceR5-Example.json +++ b/Specimen/Specimen-ExtensionBodySiteReference-Example.json @@ -1,6 +1,6 @@ { "resourceType": "Specimen", - "id": "Specimen-ExtensionBodySiteReferenceR5-Example", + "id": "Specimen-ExtensionBodySiteReference-Example", "text": { "status": "additional", "div": "
An example to illustrate the use of the BodySiteReference extension
" @@ -23,6 +23,14 @@ "collector": { "reference": "Practitioner/UKCore-Practitioner-ConsultantSandraGose-Example" }, + "extension": [ + { + "url": "http://hl7.org/fhir/StructureDefinition/bodySite", + "valueReference": { + "reference": "BodyStructure/dyStructure/UKCore-BodyStructure-MedianCubitalVeinExample" + } + } + ], "collectedDateTime": "2016-02-09T16:00:00Z", "method": { "coding": [ @@ -32,17 +40,6 @@ "display": "Venipuncture for blood test" } ] - }, - "bodySite": { - "extension": [ - { - "url": "http://hl7.org/fhir/5.0/StructureDefinition/extension-Specimen.collection.bodySite", - "valueReference": { - "reference": "BodyStructure/UKCore-BodyStructure-MedianCubitalVeinExample" - } - } - ], - "text": "vein on the inner left arm" } } } \ No newline at end of file diff --git a/Specimen/Specimen-SolidTumor-Example.json b/Specimen/Specimen-SolidTumor-Example.json index a0b49de..9aca514 100644 --- a/Specimen/Specimen-SolidTumor-Example.json +++ b/Specimen/Specimen-SolidTumor-Example.json @@ -1,63 +1,61 @@ { - "resourceType": "Specimen", - "id": "Specimen-SolidTumor-Example", - "identifier": [ - { - "system": "https://fhir.add.nhs.uk/Id/specimenId", - "value": "RA257630" - } - ], - "status": "available", - "type": { - "coding": [ - { - "system": "http://snomed.info/sct", - "code": "364611000000101", - "display": "Tissue resection sample" - } - ] - }, - "subject": { - "reference": "Patient/Patient-ZelmaHadjkiss-Example", - "identifier": { - "system": "https://fhir.nhs.uk/Id/nhs-number", - "value": "9449307555" - } + "resourceType": "Specimen", + "id": "Specimen-SolidTumor-Example", + "identifier": [ + { + "system": "https://fhir.add.nhs.uk/Id/specimenId", + "value": "RA257630" + } + ], + "status": "available", + "type": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "364611000000101", + "display": "Tissue resection sample" + } + ] + }, + "subject": { + "reference": "Patient/Patient-ZelmaHadjkiss-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307555" + } + }, + "collection": { + "collector": { + "identifier": { + "system": "https://fhir.nhs.uk/Id/sds-user-id", + "value": "9999999998" + }, + "display": "ClinicalScientist-John Taylor" }, - "collection": { - "collector": { - "identifier": { - "system": "https://fhir.nhs.uk/Id/sds-user-id", - "value": "9999999998" - }, - "display": "ClinicalScientist-John Taylor" - }, - "collectedDateTime": "2023-09-09T11:00:00Z", - "bodySite": { - "extension": [ - { - "url": "http://hl7.org/fhir/5.0/StructureDefinition/extension-Specimen.collection.bodySite", - "valueReference": { - "reference": "BodyStructure/BodyStructure-BodySiteLocationLungs-Example" - } - } - ] - } - }, - "condition": [ - { - "coding": [ - { - "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-PrimarySampleState", - "code": "fresh", - "display": "Fresh" - } - ] + "extension": [ + { + "url": "http://hl7.org/fhir/StructureDefinition/bodySite", + "valueReference": { + "reference": "BodyStructure/BodyStructure-BodySiteLocationLungs-Example" } + } ], - "request": [ + "collectedDateTime": "2023-09-09T11:00:00Z" + }, + "condition": [ + { + "coding": [ { - "reference": "ServiceRequest/ServiceRequest-NonWGSTestOrderForm-CancerSolidTumor-Example" + "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-PrimarySampleState", + "code": "fresh", + "display": "Fresh" } - ] + ] + } + ], + "request": [ + { + "reference": "ServiceRequest/ServiceRequest-NonWGSTestOrderForm-CancerSolidTumor-Example" + } + ] } \ No newline at end of file diff --git a/Specimen/Specimen-SolidTumorDemeizaSeo-Example.json b/Specimen/Specimen-SolidTumorDemeizaSeo-Example.json index a90c440..09ef16f 100644 --- a/Specimen/Specimen-SolidTumorDemeizaSeo-Example.json +++ b/Specimen/Specimen-SolidTumorDemeizaSeo-Example.json @@ -1,77 +1,75 @@ { - "resourceType": "Specimen", - "id": "Specimen-SolidTumorDemeizaSeo-Example", - "extension": [ - { - "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-SampleCategory", - "valueCodeableConcept": { - "coding": [ - { - "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-SampleCategory", - "code": "solid-tumour", - "display": "Solid Tumour" - } - ] - } - } - ], - "identifier": [ - { - "system": "https://fhir.add.nhs.uk/Id/specimenId", - "value": "RA257631" - } - ], - "status": "available", - "type": { + "resourceType": "Specimen", + "id": "Specimen-SolidTumorDemeizaSeo-Example", + "extension": [ + { + "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-SampleCategory", + "valueCodeableConcept": { "coding": [ - { - "system": "http://snomed.info/sct", - "code": "364611000000101", - "display": "Tissue resection sample" - } + { + "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-SampleCategory", + "code": "solid-tumour", + "display": "Solid Tumour" + } ] + } + } + ], + "identifier": [ + { + "system": "https://fhir.add.nhs.uk/Id/specimenId", + "value": "RA257631" + } + ], + "status": "available", + "type": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "364611000000101", + "display": "Tissue resection sample" + } + ] + }, + "subject": { + "reference": "Patient/Patient-DemeizaSeo-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449306559" + } + }, + "collection": { + "collector": { + "identifier": { + "system": "https://fhir.nhs.uk/Id/sds-user-id", + "value": "9999999998" + }, + "display": "ClinicalScientist-John Taylor" }, - "subject": { - "reference": "Patient/Patient-DemeizaSeo-Example", - "identifier": { - "system": "https://fhir.nhs.uk/Id/nhs-number", - "value": "9449306559" - } - }, - "collection": { - "collector": { - "identifier": { - "system": "https://fhir.nhs.uk/Id/sds-user-id", - "value": "9999999998" - }, - "display": "ClinicalScientist-John Taylor" - }, - "collectedDateTime": "2023-09-09T11:00:00Z", - "bodySite": { - "extension": [ - { - "url": "http://hl7.org/fhir/5.0/StructureDefinition/extension-Specimen.collection.bodySite", - "valueReference": { - "reference": "BodyStructure/BodyStructure-BodySiteLocationAbdomen-Example" - } - } - ] - } - }, - "condition": [ - { - "coding": [ - { - "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-PrimarySampleState", - "code": "fresh", - "display": "Fresh" - } - ] + "extension": [ + { + "url": "http://hl7.org/fhir/StructureDefinition/bodySite", + "valueReference": { + "reference": "BodyStructure/BodyStructure-BodySiteLocationAbdomen-Example" } + } ], - "request": [ + "collectedDateTime": "2023-09-09T11:00:00Z" + }, + "condition": [ + { + "coding": [ { - "reference": "ServiceRequest/ServiceRequest-WGSTestOrderForm-CancerSolidTumor-Example" + "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-PrimarySampleState", + "code": "fresh", + "display": "Fresh" } - ] + ] + } + ], + "request": [ + { + "reference": "ServiceRequest/ServiceRequest-WGSTestOrderForm-CancerSolidTumor-Example" + } + ] } \ No newline at end of file