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.
Bundle
Bundle-NonWGSTestOrderForm-CancerSolidTumor-Example
Example of a Non-WGS test request sent to the central broker, as described in the Clinical Scenario: CPGC Non-WGS Solid Tumour Scenario.
| Bundle |
| id : Bundle-NonWGSTestOrderForm-CancerSolidTumor-Example |
| type : transaction |
| entry |
| fullUrl : http://example.org/fhir/PractitionerRole/PractitionerRole-HazelSmithKingstonPathology-Example |
| resource |
| id : PractitionerRole-HazelSmithKingstonPathology-Example |
| practitioner |
| identifier |
| system : https://fhir.nhs.uk/Id/sds-user-id |
| value : 9999999998 |
| display : Dr. Hazel Smith |
| organization |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX01 |
| display : Kingston Hospital NHS Foundation Trust |
| specialty |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode |
| code : 820 |
| display : General Pathology |
| telecom |
| system : phone |
| value : 02085467711 |
| telecom |
| system : email |
| value : Hazel.smith14@nhs.net |
| telecom |
| system : email |
| value : pathologyseckingston@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| telecom |
| system : email |
| value : respiratorykingston@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| request |
| method : POST |
| url : PractitionerRole |
| entry |
| fullUrl : http://example.org/fhir/PractitionerRole/PractitionerRole-JamesTaylorKingstonPathology-Example |
| resource |
| id : PractitionerRole-JamesTaylorKingstonPathology-Example |
| practitioner |
| identifier |
| system : https://fhir.nhs.uk/Id/sds-user-id |
| value : 9999999998 |
| display : Dr. James Taylor |
| organization |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX01 |
| display : Kingston Hospital NHS Foundation Trust |
| specialty |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode |
| code : 820 |
| display : General Pathology |
| telecom |
| system : phone |
| value : 02085467711 |
| telecom |
| system : email |
| value : pathologyseckingston@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| telecom |
| system : email |
| value : respiratorykingston@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| request |
| method : POST |
| url : PractitionerRole |
| entry |
| fullUrl : http://example.org/fhir/PractitionerRole/PractitionerRole-AnnaLaneKingstonPathology-Example |
| resource |
| id : PractitionerRole-AnnaLaneKingstonPathology-Example |
| practitioner |
| identifier |
| system : https://fhir.nhs.uk/Id/sds-user-id |
| value : 9999999998 |
| display : Dr. Anna Lane |
| organization |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX01 |
| display : Kingston Hospital NHS Foundation Trust |
| specialty |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode |
| code : 820 |
| display : General Pathology |
| telecom |
| system : phone |
| value : 02085467711 |
| telecom |
| system : email |
| value : pathologyseckingston@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| telecom |
| system : email |
| value : respiratorykingston@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| request |
| method : POST |
| url : PractitionerRole |
| entry |
| fullUrl : http://example.org/fhir/Patient/Patient-ZelmaHadjkiss-Example |
| resource |
| id : Patient-ZelmaHadjkiss-Example |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex |
| value |
| coding |
| system : http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender |
| code : F |
| display : Female |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-EthnicCategory |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-EthnicCategoryEngland |
| code : A |
| display : White - British |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307555 |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland |
| version : 2.2.0 |
| code : 01 |
| display : Number present and verified |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : RWT17335 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX01 |
| name |
| given : Zelma |
| family : Hadjkiss |
| gender : female |
| birthDate : 2011-03-19 |
| address |
| line : 2 Barclay Close |
| line : Fetcham |
| line : Leatherhead |
| line : Surrey |
| postalCode : KT22 9SY |
| generalPractitioner |
| identifier |
| system : https://fhir.hl7.org.uk/Id/gmp-number |
| value : G9999999 |
| display : Dr. Aero Smith |
| generalPractitioner |
| identifier |
| system : https://fhir.hl7.org.uk/Id/ODS-code |
| value : AP123 |
| display : anywhere place |
| link |
| other |
| reference : https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307555 |
| type : seealso |
| request |
| method : POST |
| url : Patient |
| ifNoneExist : Patient?identifier=https://fhir.nhs.uk/Id/nhs-number|9449307555 |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-MultipleTumors-Example |
| resource |
| id : Observation-MultipleTumors-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 128462008 |
| display : Metastatic malignant neoplasm (disorder) |
| subject |
| reference : Patient/Patient-ZelmaHadjkiss-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307555 |
| specimen |
| identifier |
| system : https://fhir.add.nhs.uk/Id/specimenId |
| value : RA257630 |
| value |
| value : 25 |
| unit : % |
| system : http://unitsofmeasure.org |
| code : % |
| component |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 369755005 |
| display : Multiple tumors (qualifier value) |
| value : True |
| effective : 2023-09-08 |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-Necrosis-Example |
| resource |
| id : Observation-Necrosis-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 6574001 |
| display : Necrosis (morphologic abnormality) |
| subject |
| reference : Patient/Patient-ZelmaHadjkiss-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307555 |
| specimen |
| identifier |
| system : https://fhir.add.nhs.uk/Id/specimenId |
| value : RA257630 |
| value |
| value : 5 |
| unit : % |
| system : http://unitsofmeasure.org |
| code : % |
| interpretation |
| text : Cellularity |
| coding |
| system : http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation |
| code : H |
| display : High |
| effective : 2023-09-08 |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Condition/Condition-LungTumor-Example |
| resource |
| id : Condition-LungTumor-Example |
| clinicalStatus |
| coding |
| system : http://terminology.hl7.org/CodeSystem/condition-clinical |
| code : recurrence |
| display : Recurrence |
| verificationStatus |
| coding |
| system : http://terminology.hl7.org/CodeSystem/condition-ver-status |
| code : provisional |
| display : Provisional |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 363358000 |
| display : Malignant tumour of lung |
| subject |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 944930555 |
| request |
| method : POST |
| url : Condition |
| entry |
| fullUrl : http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-CancerSolidTumor-Example |
| resource |
| id : ServiceRequest-NonWGSTestOrderForm-CancerSolidTumor-Example |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
| code : nhs |
| display : NHS |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-AdditionalContact |
| value |
| reference : PractitionerRole/PractitionerRole-AnnaLaneKingstonPathology-Example |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-AdditionalContact |
| value |
| reference : PractitionerRole/PractitionerRole-JamesTaylor-Example |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : cancer-non-wgs |
| display : Cancer - Non-WGS |
| priority : routine |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : M119.5 |
| display : Multi Target NGS Panel Small |
| subject |
| reference : Patient/Patient-PatrickSammy-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307555 |
| authoredOn : 2023-09-08 |
| requester |
| reference : PractitionerRole/PractitionerRole-HazelSmithKingstonPathology-Example |
| reasonCode |
| coding |
| system : http://snomed.info/sct |
| code : 335741000000100 |
| display : Recurrence of tumour |
| performer |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RJZ |
| display : KING'S COLLEGE HOSPITAL NHS FOUNDATION TRUST |
| supportingInfo |
| reference : Observation/Observation-MultipleTumors-Example |
| supportingInfo |
| reference : Observation/Observation-MultipleTumors-Example |
| supportingInfo |
| reference : Condition/Condition-LungTumor-Example |
| specimen |
| reference : Specimen/Specimen-CancerSolidTumor-Example |
| note |
| text : Free text for diagnosis/reason for referral, transplant, life status at time of request details/ e.g. malignant tumour - molecular assessment will aid management |
| request |
| method : POST |
| url : ServiceRequest |
{ "resourceType": "Bundle", "id": "Bundle-NonWGSTestOrderForm-CancerSolidTumor-Example", "type": "transaction", "entry": [ { "fullUrl": "http://example.org/fhir/PractitionerRole/PractitionerRole-HazelSmithKingstonPathology-Example", "resource": { "resourceType": "PractitionerRole", "id": "PractitionerRole-HazelSmithKingstonPathology-Example", "practitioner": { "identifier": { "system": "https://fhir.nhs.uk/Id/sds-user-id", "value": "9999999998" }, "display": "Dr. Hazel Smith" }, "organization": { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RAX01" }, "display": "Kingston Hospital NHS Foundation Trust" }, "specialty": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode", "code": "820", "display": "General Pathology" } ] } ], "telecom": [ { "system": "phone", "value": "02085467711" }, { "system": "email", "value": "Hazel.smith14@nhs.net" }, { "system": "email", "value": "pathologyseckingston@nhs.net", "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/contactpoint-comment", "valueString": "reporting" } ] }, { "system": "email", "value": "respiratorykingston@nhs.net", "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/contactpoint-comment", "valueString": "reporting" } ] } ] }, "request": { "method": "POST", "url": "PractitionerRole" } }, { "fullUrl": "http://example.org/fhir/PractitionerRole/PractitionerRole-JamesTaylorKingstonPathology-Example", "resource": { "resourceType": "PractitionerRole", "id": "PractitionerRole-JamesTaylorKingstonPathology-Example", "practitioner": { "identifier": { "system": "https://fhir.nhs.uk/Id/sds-user-id", "value": "9999999998" }, "display": "Dr. James Taylor" }, "organization": { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RAX01" }, "display": "Kingston Hospital NHS Foundation Trust" }, "specialty": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode", "code": "820", "display": "General Pathology" } ] } ], "telecom": [ { "system": "phone", "value": "02085467711" }, { "system": "email", "value": "pathologyseckingston@nhs.net", "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/contactpoint-comment", "valueString": "reporting" } ] }, { "system": "email", "value": "respiratorykingston@nhs.net", "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/contactpoint-comment", "valueString": "reporting" } ] } ] }, "request": { "method": "POST", "url": "PractitionerRole" } }, { "fullUrl": "http://example.org/fhir/PractitionerRole/PractitionerRole-AnnaLaneKingstonPathology-Example", "resource": { "resourceType": "PractitionerRole", "id": "PractitionerRole-AnnaLaneKingstonPathology-Example", "practitioner": { "identifier": { "system": "https://fhir.nhs.uk/Id/sds-user-id", "value": "9999999998" }, "display": "Dr. Anna Lane" }, "organization": { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RAX01" }, "display": "Kingston Hospital NHS Foundation Trust" }, "specialty": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode", "code": "820", "display": "General Pathology" } ] } ], "telecom": [ { "system": "phone", "value": "02085467711" }, { "system": "email", "value": "pathologyseckingston@nhs.net", "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/contactpoint-comment", "valueString": "reporting" } ] }, { "system": "email", "value": "respiratorykingston@nhs.net", "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/contactpoint-comment", "valueString": "reporting" } ] } ] }, "request": { "method": "POST", "url": "PractitionerRole" } }, { "fullUrl": "http://example.org/fhir/Patient/Patient-ZelmaHadjkiss-Example", "resource": { "resourceType": "Patient", "id": "Patient-ZelmaHadjkiss-Example", "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex", "valueCodeableConcept": { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender", "code": "F", "display": "Female" } ] } }, { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-EthnicCategory", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-EthnicCategoryEngland", "code": "A", "display": "White - British" } ] } } ], "identifier": [ { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307555", "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland", "version": "2.2.0", "code": "01", "display": "Number present and verified" } ] } } ] }, { "system": "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", "value": "RWT17335", "assigner": { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RAX01" } } } ], "name": [ { "given": [ "Zelma" ], "family": "Hadjkiss" } ], "gender": "female", "birthDate": "2011-03-19", "address": [ { "line": [ "2 Barclay Close", "Fetcham", "Leatherhead", "Surrey" ], "postalCode": "KT22 9SY" } ], "generalPractitioner": [ { "identifier": { "system": "https://fhir.hl7.org.uk/Id/gmp-number", "value": "G9999999" }, "display": "Dr. Aero Smith" }, { "identifier": { "system": "https://fhir.hl7.org.uk/Id/ODS-code", "value": "AP123" }, "display": "anywhere place" } ], "link": [ { "other": { "reference": "https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307555" }, "type": "seealso" } ] }, "request": { "method": "POST", "url": "Patient", "ifNoneExist": "Patient?identifier=https://fhir.nhs.uk/Id/nhs-number|9449307555" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-MultipleTumors-Example", "resource": { "resourceType": "Observation", "id": "Observation-MultipleTumors-Example", "status": "final", "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "128462008", "display": "Metastatic malignant neoplasm (disorder)" } ] }, "subject": { "reference": "Patient/Patient-ZelmaHadjkiss-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307555" } }, "specimen": { "identifier": { "system": "https://fhir.add.nhs.uk/Id/specimenId", "value": "RA257630" } }, "valueQuantity": { "value": 25, "unit": "%", "system": "http://unitsofmeasure.org", "code": "%" }, "component": [ { "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "369755005", "display": "Multiple tumors (qualifier value)" } ] }, "valueBoolean": true } ], "effectiveDateTime": "2023-09-08" }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-Necrosis-Example", "resource": { "resourceType": "Observation", "id": "Observation-Necrosis-Example", "status": "final", "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "6574001", "display": "Necrosis (morphologic abnormality)" } ] }, "subject": { "reference": "Patient/Patient-ZelmaHadjkiss-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307555" } }, "specimen": { "identifier": { "system": "https://fhir.add.nhs.uk/Id/specimenId", "value": "RA257630" } }, "valueQuantity": { "value": 5, "unit": "%", "system": "http://unitsofmeasure.org", "code": "%" }, "interpretation": [ { "text": "Cellularity", "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation", "code": "H", "display": "High" } ] } ], "effectiveDateTime": "2023-09-08" }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/Condition/Condition-LungTumor-Example", "resource": { "resourceType": "Condition", "id": "Condition-LungTumor-Example", "clinicalStatus": { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/condition-clinical", "code": "recurrence", "display": "Recurrence" } ] }, "verificationStatus": { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/condition-ver-status", "code": "provisional", "display": "Provisional" } ] }, "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "363358000", "display": "Malignant tumour of lung" } ] }, "subject": { "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "944930555" } } }, "request": { "method": "POST", "url": "Condition" } }, { "fullUrl": "http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-CancerSolidTumor-Example", "resource": { "resourceType": "ServiceRequest", "id": "ServiceRequest-NonWGSTestOrderForm-CancerSolidTumor-Example", "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } }, { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-AdditionalContact", "valueReference": { "reference": "PractitionerRole/PractitionerRole-AnnaLaneKingstonPathology-Example" } }, { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-AdditionalContact", "valueReference": { "reference": "PractitionerRole/PractitionerRole-JamesTaylor-Example" } } ], "status": "active", "intent": "order", "category": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", "code": "cancer-non-wgs", "display": "Cancer - Non-WGS" } ] } ], "priority": "routine", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "M119.5", "display": "Multi Target NGS Panel Small" } ] }, "subject": { "reference": "Patient/Patient-PatrickSammy-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307555" } }, "authoredOn": "2023-09-08", "requester": { "reference": "PractitionerRole/PractitionerRole-HazelSmithKingstonPathology-Example" }, "reasonCode": [ { "coding": [ { "system": "http://snomed.info/sct", "code": "335741000000100", "display": "Recurrence of tumour" } ] } ], "performer": [ { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RJZ" }, "display": "KING'S COLLEGE HOSPITAL NHS FOUNDATION TRUST" } ], "supportingInfo": [ { "reference": "Observation/Observation-MultipleTumors-Example" }, { "reference": "Observation/Observation-MultipleTumors-Example" }, { "reference": "Condition/Condition-LungTumor-Example" } ], "specimen": [ { "reference": "Specimen/Specimen-CancerSolidTumor-Example" } ], "note": [ { "text": "Free text for diagnosis/reason for referral, transplant, life status at time of request details/ e.g. malignant tumour - molecular assessment will aid management" } ] }, "request": { "method": "POST", "url": "ServiceRequest" } } ] }
<Bundle xmlns="http://hl7.org/fhir"> <id value="Bundle-NonWGSTestOrderForm-CancerSolidTumor-Example" /> <type value="transaction" /> <entry> <fullUrl value="http://example.org/fhir/PractitionerRole/PractitionerRole-HazelSmithKingstonPathology-Example" /> <resource> <PractitionerRole> <id value="PractitionerRole-HazelSmithKingstonPathology-Example" /> <practitioner> <identifier> <system value="https://fhir.nhs.uk/Id/sds-user-id" /> <value value="9999999998" /> </identifier> <display value="Dr. Hazel Smith" /> </practitioner> <organization> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX01" /> </identifier> <display value="Kingston Hospital NHS Foundation Trust" /> </organization> <specialty> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode" /> <code value="820" /> <display value="General Pathology" /> </coding> </specialty> <telecom> <system value="phone" /> <value value="02085467711" /> </telecom> <telecom> <system value="email" /> <value value="Hazel.smith14@nhs.net" /> </telecom> <telecom> <extension url="http://hl7.org/fhir/StructureDefinition/contactpoint-comment"> <valueString value="reporting" /> </extension> <system value="email" /> <value value="pathologyseckingston@nhs.net" /> </telecom> <telecom> <extension url="http://hl7.org/fhir/StructureDefinition/contactpoint-comment"> <valueString value="reporting" /> </extension> <system value="email" /> <value value="respiratorykingston@nhs.net" /> </telecom> </PractitionerRole> </resource> <request> <method value="POST" /> <url value="PractitionerRole" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/PractitionerRole/PractitionerRole-JamesTaylorKingstonPathology-Example" /> <resource> <PractitionerRole> <id value="PractitionerRole-JamesTaylorKingstonPathology-Example" /> <practitioner> <identifier> <system value="https://fhir.nhs.uk/Id/sds-user-id" /> <value value="9999999998" /> </identifier> <display value="Dr. James Taylor" /> </practitioner> <organization> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX01" /> </identifier> <display value="Kingston Hospital NHS Foundation Trust" /> </organization> <specialty> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode" /> <code value="820" /> <display value="General Pathology" /> </coding> </specialty> <telecom> <system value="phone" /> <value value="02085467711" /> </telecom> <telecom> <extension url="http://hl7.org/fhir/StructureDefinition/contactpoint-comment"> <valueString value="reporting" /> </extension> <system value="email" /> <value value="pathologyseckingston@nhs.net" /> </telecom> <telecom> <extension url="http://hl7.org/fhir/StructureDefinition/contactpoint-comment"> <valueString value="reporting" /> </extension> <system value="email" /> <value value="respiratorykingston@nhs.net" /> </telecom> </PractitionerRole> </resource> <request> <method value="POST" /> <url value="PractitionerRole" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/PractitionerRole/PractitionerRole-AnnaLaneKingstonPathology-Example" /> <resource> <PractitionerRole> <id value="PractitionerRole-AnnaLaneKingstonPathology-Example" /> <practitioner> <identifier> <system value="https://fhir.nhs.uk/Id/sds-user-id" /> <value value="9999999998" /> </identifier> <display value="Dr. Anna Lane" /> </practitioner> <organization> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX01" /> </identifier> <display value="Kingston Hospital NHS Foundation Trust" /> </organization> <specialty> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode" /> <code value="820" /> <display value="General Pathology" /> </coding> </specialty> <telecom> <system value="phone" /> <value value="02085467711" /> </telecom> <telecom> <extension url="http://hl7.org/fhir/StructureDefinition/contactpoint-comment"> <valueString value="reporting" /> </extension> <system value="email" /> <value value="pathologyseckingston@nhs.net" /> </telecom> <telecom> <extension url="http://hl7.org/fhir/StructureDefinition/contactpoint-comment"> <valueString value="reporting" /> </extension> <system value="email" /> <value value="respiratorykingston@nhs.net" /> </telecom> </PractitionerRole> </resource> <request> <method value="POST" /> <url value="PractitionerRole" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Patient/Patient-ZelmaHadjkiss-Example" /> <resource> <Patient> <id value="Patient-ZelmaHadjkiss-Example" /> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex"> <valueCodeableConcept> <coding> <system value="http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender" /> <code value="F" /> <display value="Female" /> </coding> </valueCodeableConcept> </extension> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-EthnicCategory"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-EthnicCategoryEngland" /> <code value="A" /> <display value="White - British" /> </coding> </valueCodeableConcept> </extension> <identifier> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland" /> <version value="2.2.0" /> <code value="01" /> <display value="Number present and verified" /> </coding> </valueCodeableConcept> </extension> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307555" /> </identifier> <identifier> <system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" /> <value value="RWT17335" /> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX01" /> </identifier> </assigner> </identifier> <name> <family value="Hadjkiss" /> <given value="Zelma" /> </name> <gender value="female" /> <birthDate value="2011-03-19" /> <address> <line value="2 Barclay Close" /> <line value="Fetcham" /> <line value="Leatherhead" /> <line value="Surrey" /> <postalCode value="KT22 9SY" /> </address> <generalPractitioner> <identifier> <system value="https://fhir.hl7.org.uk/Id/gmp-number" /> <value value="G9999999" /> </identifier> <display value="Dr. Aero Smith" /> </generalPractitioner> <generalPractitioner> <identifier> <system value="https://fhir.hl7.org.uk/Id/ODS-code" /> <value value="AP123" /> </identifier> <display value="anywhere place" /> </generalPractitioner> <link> <other> <reference value="https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307555" /> </other> <type value="seealso" /> </link> </Patient> </resource> <request> <method value="POST" /> <url value="Patient" /> <ifNoneExist value="Patient?identifier=https://fhir.nhs.uk/Id/nhs-number|9449307555" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-MultipleTumors-Example" /> <resource> <Observation> <id value="Observation-MultipleTumors-Example" /> <status value="final" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="128462008" /> <display value="Metastatic malignant neoplasm (disorder)" /> </coding> </code> <subject> <reference value="Patient/Patient-ZelmaHadjkiss-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307555" /> </identifier> </subject> <effectiveDateTime value="2023-09-08" /> <valueQuantity> <value value="25" /> <unit value="%" /> <system value="http://unitsofmeasure.org" /> <code value="%" /> </valueQuantity> <specimen> <identifier> <system value="https://fhir.add.nhs.uk/Id/specimenId" /> <value value="RA257630" /> </identifier> </specimen> <component> <code> <coding> <system value="http://snomed.info/sct" /> <code value="369755005" /> <display value="Multiple tumors (qualifier value)" /> </coding> </code> <valueBoolean value="true" /> </component> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-Necrosis-Example" /> <resource> <Observation> <id value="Observation-Necrosis-Example" /> <status value="final" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="6574001" /> <display value="Necrosis (morphologic abnormality)" /> </coding> </code> <subject> <reference value="Patient/Patient-ZelmaHadjkiss-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307555" /> </identifier> </subject> <effectiveDateTime value="2023-09-08" /> <valueQuantity> <value value="5" /> <unit value="%" /> <system value="http://unitsofmeasure.org" /> <code value="%" /> </valueQuantity> <interpretation> <coding> <system value="http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation" /> <code value="H" /> <display value="High" /> </coding> <text value="Cellularity" /> </interpretation> <specimen> <identifier> <system value="https://fhir.add.nhs.uk/Id/specimenId" /> <value value="RA257630" /> </identifier> </specimen> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Condition/Condition-LungTumor-Example" /> <resource> <Condition> <id value="Condition-LungTumor-Example" /> <clinicalStatus> <coding> <system value="http://terminology.hl7.org/CodeSystem/condition-clinical" /> <code value="recurrence" /> <display value="Recurrence" /> </coding> </clinicalStatus> <verificationStatus> <coding> <system value="http://terminology.hl7.org/CodeSystem/condition-ver-status" /> <code value="provisional" /> <display value="Provisional" /> </coding> </verificationStatus> <code> <coding> <system value="http://snomed.info/sct" /> <code value="363358000" /> <display value="Malignant tumour of lung" /> </coding> </code> <subject> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="944930555" /> </identifier> </subject> </Condition> </resource> <request> <method value="POST" /> <url value="Condition" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-CancerSolidTumor-Example" /> <resource> <ServiceRequest> <id value="ServiceRequest-NonWGSTestOrderForm-CancerSolidTumor-Example" /> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-AdditionalContact"> <valueReference> <reference value="PractitionerRole/PractitionerRole-AnnaLaneKingstonPathology-Example" /> </valueReference> </extension> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-AdditionalContact"> <valueReference> <reference value="PractitionerRole/PractitionerRole-JamesTaylor-Example" /> </valueReference> </extension> <status value="active" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="cancer-non-wgs" /> <display value="Cancer - Non-WGS" /> </coding> </category> <priority value="routine" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="M119.5" /> <display value="Multi Target NGS Panel Small" /> </coding> </code> <subject> <reference value="Patient/Patient-PatrickSammy-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307555" /> </identifier> </subject> <authoredOn value="2023-09-08" /> <requester> <reference value="PractitionerRole/PractitionerRole-HazelSmithKingstonPathology-Example" /> </requester> <performer> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RJZ" /> </identifier> <display value="KING'S COLLEGE HOSPITAL NHS FOUNDATION TRUST" /> </performer> <reasonCode> <coding> <system value="http://snomed.info/sct" /> <code value="335741000000100" /> <display value="Recurrence of tumour" /> </coding> </reasonCode> <supportingInfo> <reference value="Observation/Observation-MultipleTumors-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-MultipleTumors-Example" /> </supportingInfo> <supportingInfo> <reference value="Condition/Condition-LungTumor-Example" /> </supportingInfo> <specimen> <reference value="Specimen/Specimen-CancerSolidTumor-Example" /> </specimen> <note> <text value="Free text for diagnosis/reason for referral, transplant, life status at time of request details/ e.g. malignant tumour - molecular assessment will aid management" /> </note> </ServiceRequest> </resource> <request> <method value="POST" /> <url value="ServiceRequest" /> </request> </entry> </Bundle>
Bundle-NonWGSTestOrderForm-Example
Example of a Non-WGS test request sent to the central broker, as described in the Clinical Scenario: Non-WGS Test Request - Rare Disease.
| Bundle |
| id : Bundle-NonWGSTestOrderForm-Example |
| type : transaction |
| entry |
| fullUrl : http://example.org/fhir/PractitionerRole/PractitionerRole-GeneSmithENT-Example |
| resource |
| id : PractitionerRole-GeneSmithENT-Example |
| practitioner |
| identifier |
| system : https://fhir.nhs.uk/Id/sds-user-id |
| value : 9999999999 |
| display : Dr. Gene Smith |
| organization |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RGT01 |
| display : Addenbrooke's Hospital |
| specialty |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode |
| code : 120 |
| display : Ear Nose and Throat |
| telecom |
| system : phone |
| value : 01223586638 |
| telecom |
| system : email |
| value : gene.smith@nhs.net |
| telecom |
| system : email |
| value : Add-tr.entsecretaries@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| request |
| method : POST |
| url : PractitionerRole |
| entry |
| fullUrl : http://example.org/fhir/Patient/Patient-MeirLieberman-Example |
| resource |
| id : Patient-MeirLieberman-Example |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex |
| value |
| coding |
| system : http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender |
| code : M |
| display : Male |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-EthnicCategory |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-EthnicCategoryEngland |
| code : A |
| display : White - British |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307873 |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland |
| version : 2.2.0 |
| code : 01 |
| display : Number present and verified |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : RGT012423 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RGT01 |
| identifier |
| system : https://fhir.nhs.uk/Id/genomics-pedigree-number |
| value : P12345 |
| name |
| given : Meir |
| given : Anah |
| family : Lieberman |
| gender : male |
| birthDate : 2005-12-19 |
| deceased : False |
| address |
| line : 1 Spinney Close |
| line : Worcester Park |
| city : Surrey |
| postalCode : KT4 7BS |
| generalPractitioner |
| identifier |
| system : https://fhir.hl7.org.uk/Id/gmp-number |
| value : G9999999 |
| display : Dr. Aero Smith |
| generalPractitioner |
| identifier |
| system : https://fhir.hl7.org.uk/Id/ODS-code |
| value : TP123 |
| display : 123 Test Practice |
| link |
| other |
| reference : https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307873 |
| type : seealso |
| request |
| method : POST |
| url : Patient |
| ifNoneExist : Patient?identifier=https://fhir.nhs.uk/Id/nhs-number|9449307873 |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-GenomicEthnicity-Example |
| resource |
| id : Observation-GenomicEthnicity-Example |
| status : preliminary |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 723621000000103 |
| display : Ethnicity |
| subject |
| reference : Patient/Patient-MeirLieberman-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307873 |
| value : unknown |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-Example |
| resource |
| id : ServiceRequest-NonWGSTestOrderForm-Example |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
| code : nhs |
| display : NHS |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : rare-disease-non-wgs |
| display : Rare Disease - Non-WGS |
| priority : routine |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R67.2 |
| display : Monogenic hearing loss |
| subject |
| reference : Patient/Patient-MeirLieberman-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307873 |
| authoredOn : 2023-08-05 |
| requester |
| reference : PractitionerRole/PractitionerRole-GeneSmithENT-Example |
| reasonCode |
| coding |
| system : http://snomed.info/sct |
| code : 103693007 |
| display : Diagnostic procedure |
| supportingInfo |
| reference : Observation/Observation-DiseaseStatus-Example |
| supportingInfo |
| reference : Observation/Observation-GenomicEthnicity-Example |
| supportingInfo |
| reference : Observation/Observation-NoPregnancy-Example |
| supportingInfo |
| reference : FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransplant-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransfusion-Example |
| supportingInfo |
| reference : Condition/Condition-HearingLoss-Example |
| note |
| text : No family history of genomic testing |
| note |
| text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/Patient in need of test...example |
| request |
| method : POST |
| url : ServiceRequest |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-NoPregnancy-Example |
| resource |
| id : Observation-NoPregnancy-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 77386006 |
| display : Pregnancy |
| subject |
| reference : Patient/Patient-MeirLieberman-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307873 |
| effective : 2023-08-05 |
| value : False |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-DiseaseStatus-Example |
| resource |
| id : Observation-DiseaseStatus-Example |
| status : final |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R67.2 |
| display : Monogenic hearing loss |
| subject |
| reference : Patient/Patient-MeirLieberman-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307873 |
| effective : 2023-08-05 |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 103310001 |
| display : Patient not affected |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example |
| resource |
| id : FamilyMemberHistory-NonConsanguinousUnion-Example |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation |
| value |
| reference : Observation/Observation-NonConsanguinousUnion-Example |
| status : completed |
| patient |
| reference : Patient/Patient-MeirLieberman-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307873 |
| relationship |
| coding |
| system : http://terminology.hl7.org/CodeSystem/v3-RoleCode |
| code : PRN |
| display : parent |
| request |
| method : POST |
| url : FamilyMemberHistory |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-NonConsanguinousUnion-Example |
| resource |
| id : Observation-NonConsanguinousUnion-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 842009 |
| display : Consanguinity |
| subject |
| reference : Patient/Patient-MeirLieberman-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307873 |
| effective : 2023-08-05 |
| value : False |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-NoTransplant-Example |
| resource |
| id : Observation-NoTransplant-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 77465005 |
| display : Transplantation |
| subject |
| reference : Patient/Patient-MeirLieberman-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307873 |
| effective : 2023-08-05 |
| value : False |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-NoTransfusion-Example |
| resource |
| id : Observation-NoTransfusion-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 5447007 |
| display : Transfusion |
| subject |
| reference : Patient/Patient-MeirLieberman-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307873 |
| effective : 2023-08-05 |
| value : False |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Condition/Condition-HearingLoss-Example |
| resource |
| id : Condition-HearingLoss-Example |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 95820000 |
| display : Bilateral hearing loss |
| subject |
| reference : Patient/Patient-MeirLieberman-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307873 |
| note |
| text : hearing loss since childhood (example) |
| request |
| method : POST |
| url : Condition |
| entry |
| fullUrl : http://example.org/fhir/Specimen/Specimen-BloodEDTA-Example |
| resource |
| id : Specimen-BloodEDTA-Example |
| identifier |
| system : https://fhir.add.nhs.uk/Id/specimenId |
| value : RGT03135 |
| status : unavailable |
| type |
| coding |
| system : http://snomed.info/sct |
| code : 445295009 |
| display : Blood specimen with EDTA |
| subject |
| reference : Patient/Patient-MeirLieberman-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307873 |
| request |
| reference : ServiceRequest/ServiceRequest-NonWGSTestOrderForm-Example |
| request |
| method : POST |
| url : Specimen |
{ "resourceType": "Bundle", "id": "Bundle-NonWGSTestOrderForm-Example", "type": "transaction", "entry": [ { "fullUrl": "http://example.org/fhir/PractitionerRole/PractitionerRole-GeneSmithENT-Example", "resource": { "resourceType": "PractitionerRole", "id": "PractitionerRole-GeneSmithENT-Example", "practitioner": { "identifier": { "system": "https://fhir.nhs.uk/Id/sds-user-id", "value": "9999999999" }, "display": "Dr. Gene Smith" }, "organization": { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RGT01" }, "display": "Addenbrooke's Hospital" }, "specialty": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode", "code": "120", "display": "Ear Nose and Throat" } ] } ], "telecom": [ { "system": "phone", "value": "01223586638" }, { "system": "email", "value": "gene.smith@nhs.net" }, { "system": "email", "value": "Add-tr.entsecretaries@nhs.net", "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/contactpoint-comment", "valueString": "reporting" } ] } ] }, "request": { "method": "POST", "url": "PractitionerRole" } }, { "fullUrl": "http://example.org/fhir/Patient/Patient-MeirLieberman-Example", "resource": { "resourceType": "Patient", "id": "Patient-MeirLieberman-Example", "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex", "valueCodeableConcept": { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender", "code": "M", "display": "Male" } ] } }, { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-EthnicCategory", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-EthnicCategoryEngland", "code": "A", "display": "White - British" } ] } } ], "identifier": [ { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307873", "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland", "version": "2.2.0", "code": "01", "display": "Number present and verified" } ] } } ] }, { "system": "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", "value": "RGT012423", "assigner": { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RGT01" } } }, { "system": "https://fhir.nhs.uk/Id/genomics-pedigree-number", "value": "P12345" } ], "name": [ { "given": [ "Meir", "Anah" ], "family": "Lieberman" } ], "gender": "male", "birthDate": "2005-12-19", "deceasedBoolean": false, "address": [ { "line": [ "1 Spinney Close", "Worcester Park" ], "city": "Surrey", "postalCode": "KT4 7BS" } ], "generalPractitioner": [ { "identifier": { "system": "https://fhir.hl7.org.uk/Id/gmp-number", "value": "G9999999" }, "display": "Dr. Aero Smith" }, { "identifier": { "system": "https://fhir.hl7.org.uk/Id/ODS-code", "value": "TP123" }, "display": "123 Test Practice" } ], "link": [ { "other": { "reference": "https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307873" }, "type": "seealso" } ] }, "request": { "method": "POST", "url": "Patient", "ifNoneExist": "Patient?identifier=https://fhir.nhs.uk/Id/nhs-number|9449307873" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-GenomicEthnicity-Example", "resource": { "resourceType": "Observation", "id": "Observation-GenomicEthnicity-Example", "status": "preliminary", "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "723621000000103", "display": "Ethnicity" } ] }, "subject": { "reference": "Patient/Patient-MeirLieberman-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307873" } }, "valueString": "unknown" }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-Example", "resource": { "resourceType": "ServiceRequest", "id": "ServiceRequest-NonWGSTestOrderForm-Example", "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } } ], "status": "active", "intent": "order", "category": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", "code": "rare-disease-non-wgs", "display": "Rare Disease - Non-WGS" } ] } ], "priority": "routine", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "R67.2", "display": "Monogenic hearing loss" } ] }, "subject": { "reference": "Patient/Patient-MeirLieberman-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307873" } }, "authoredOn": "2023-08-05", "requester": { "reference": "PractitionerRole/PractitionerRole-GeneSmithENT-Example" }, "reasonCode": [ { "coding": [ { "system": "http://snomed.info/sct", "code": "103693007", "display": "Diagnostic procedure" } ] } ], "supportingInfo": [ { "reference": "Observation/Observation-DiseaseStatus-Example" }, { "reference": "Observation/Observation-GenomicEthnicity-Example" }, { "reference": "Observation/Observation-NoPregnancy-Example" }, { "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" }, { "reference": "Observation/Observation-NoTransplant-Example" }, { "reference": "Observation/Observation-NoTransfusion-Example" }, { "reference": "Condition/Condition-HearingLoss-Example" } ], "note": [ { "text": "No family history of genomic testing" }, { "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/Patient in need of test...example" } ] }, "request": { "method": "POST", "url": "ServiceRequest" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-NoPregnancy-Example", "resource": { "resourceType": "Observation", "id": "Observation-NoPregnancy-Example", "status": "final", "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "77386006", "display": "Pregnancy" } ] }, "subject": { "reference": "Patient/Patient-MeirLieberman-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307873" } }, "effectiveDateTime": "2023-08-05", "valueBoolean": false }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-DiseaseStatus-Example", "resource": { "resourceType": "Observation", "id": "Observation-DiseaseStatus-Example", "status": "final", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "R67.2", "display": "Monogenic hearing loss" } ] }, "subject": { "reference": "Patient/Patient-MeirLieberman-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307873" } }, "effectiveDateTime": "2023-08-05", "valueCodeableConcept": { "coding": [ { "system": "http://snomed.info/sct", "code": "103310001", "display": "Patient not affected" } ] } }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example", "resource": { "resourceType": "FamilyMemberHistory", "id": "FamilyMemberHistory-NonConsanguinousUnion-Example", "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation", "valueReference": { "reference": "Observation/Observation-NonConsanguinousUnion-Example" } } ], "status": "completed", "patient": { "reference": "Patient/Patient-MeirLieberman-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307873" } }, "relationship": { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/v3-RoleCode", "code": "PRN", "display": "parent" } ] } }, "request": { "method": "POST", "url": "FamilyMemberHistory" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-NonConsanguinousUnion-Example", "resource": { "resourceType": "Observation", "id": "Observation-NonConsanguinousUnion-Example", "status": "final", "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "842009", "display": "Consanguinity" } ] }, "subject": { "reference": "Patient/Patient-MeirLieberman-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307873" } }, "effectiveDateTime": "2023-08-05", "valueBoolean": false }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-NoTransplant-Example", "resource": { "resourceType": "Observation", "id": "Observation-NoTransplant-Example", "status": "final", "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "77465005", "display": "Transplantation" } ] }, "subject": { "reference": "Patient/Patient-MeirLieberman-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307873" } }, "effectiveDateTime": "2023-08-05", "valueBoolean": false }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-NoTransfusion-Example", "resource": { "resourceType": "Observation", "id": "Observation-NoTransfusion-Example", "status": "final", "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "5447007", "display": "Transfusion" } ] }, "subject": { "reference": "Patient/Patient-MeirLieberman-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307873" } }, "effectiveDateTime": "2023-08-05", "valueBoolean": false }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/Condition/Condition-HearingLoss-Example", "resource": { "resourceType": "Condition", "id": "Condition-HearingLoss-Example", "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "95820000", "display": "Bilateral hearing loss" } ] }, "subject": { "reference": "Patient/Patient-MeirLieberman-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307873" } }, "note": [ { "text": "hearing loss since childhood (example)" } ] }, "request": { "method": "POST", "url": "Condition" } }, { "fullUrl": "http://example.org/fhir/Specimen/Specimen-BloodEDTA-Example", "resource": { "resourceType": "Specimen", "id": "Specimen-BloodEDTA-Example", "identifier": [ { "system": "https://fhir.add.nhs.uk/Id/specimenId", "value": "RGT03135" } ], "status": "unavailable", "type": { "coding": [ { "system": "http://snomed.info/sct", "code": "445295009", "display": "Blood specimen with EDTA" } ] }, "subject": { "reference": "Patient/Patient-MeirLieberman-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307873" } }, "request": [ { "reference": "ServiceRequest/ServiceRequest-NonWGSTestOrderForm-Example" } ] }, "request": { "method": "POST", "url": "Specimen" } } ] }
<Bundle xmlns="http://hl7.org/fhir"> <id value="Bundle-NonWGSTestOrderForm-Example" /> <type value="transaction" /> <entry> <fullUrl value="http://example.org/fhir/PractitionerRole/PractitionerRole-GeneSmithENT-Example" /> <resource> <PractitionerRole> <id value="PractitionerRole-GeneSmithENT-Example" /> <practitioner> <identifier> <system value="https://fhir.nhs.uk/Id/sds-user-id" /> <value value="9999999999" /> </identifier> <display value="Dr. Gene Smith" /> </practitioner> <organization> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RGT01" /> </identifier> <display value="Addenbrooke's Hospital" /> </organization> <specialty> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode" /> <code value="120" /> <display value="Ear Nose and Throat" /> </coding> </specialty> <telecom> <system value="phone" /> <value value="01223586638" /> </telecom> <telecom> <system value="email" /> <value value="gene.smith@nhs.net" /> </telecom> <telecom> <extension url="http://hl7.org/fhir/StructureDefinition/contactpoint-comment"> <valueString value="reporting" /> </extension> <system value="email" /> <value value="Add-tr.entsecretaries@nhs.net" /> </telecom> </PractitionerRole> </resource> <request> <method value="POST" /> <url value="PractitionerRole" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Patient/Patient-MeirLieberman-Example" /> <resource> <Patient> <id value="Patient-MeirLieberman-Example" /> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex"> <valueCodeableConcept> <coding> <system value="http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender" /> <code value="M" /> <display value="Male" /> </coding> </valueCodeableConcept> </extension> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-EthnicCategory"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-EthnicCategoryEngland" /> <code value="A" /> <display value="White - British" /> </coding> </valueCodeableConcept> </extension> <identifier> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland" /> <version value="2.2.0" /> <code value="01" /> <display value="Number present and verified" /> </coding> </valueCodeableConcept> </extension> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307873" /> </identifier> <identifier> <system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" /> <value value="RGT012423" /> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RGT01" /> </identifier> </assigner> </identifier> <identifier> <system value="https://fhir.nhs.uk/Id/genomics-pedigree-number" /> <value value="P12345" /> </identifier> <name> <family value="Lieberman" /> <given value="Meir" /> <given value="Anah" /> </name> <gender value="male" /> <birthDate value="2005-12-19" /> <deceasedBoolean value="false" /> <address> <line value="1 Spinney Close" /> <line value="Worcester Park" /> <city value="Surrey" /> <postalCode value="KT4 7BS" /> </address> <generalPractitioner> <identifier> <system value="https://fhir.hl7.org.uk/Id/gmp-number" /> <value value="G9999999" /> </identifier> <display value="Dr. Aero Smith" /> </generalPractitioner> <generalPractitioner> <identifier> <system value="https://fhir.hl7.org.uk/Id/ODS-code" /> <value value="TP123" /> </identifier> <display value="123 Test Practice" /> </generalPractitioner> <link> <other> <reference value="https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307873" /> </other> <type value="seealso" /> </link> </Patient> </resource> <request> <method value="POST" /> <url value="Patient" /> <ifNoneExist value="Patient?identifier=https://fhir.nhs.uk/Id/nhs-number|9449307873" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-GenomicEthnicity-Example" /> <resource> <Observation> <id value="Observation-GenomicEthnicity-Example" /> <status value="preliminary" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="723621000000103" /> <display value="Ethnicity" /> </coding> </code> <subject> <reference value="Patient/Patient-MeirLieberman-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307873" /> </identifier> </subject> <valueString value="unknown" /> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-Example" /> <resource> <ServiceRequest> <id value="ServiceRequest-NonWGSTestOrderForm-Example" /> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <status value="active" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="rare-disease-non-wgs" /> <display value="Rare Disease - Non-WGS" /> </coding> </category> <priority value="routine" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R67.2" /> <display value="Monogenic hearing loss" /> </coding> </code> <subject> <reference value="Patient/Patient-MeirLieberman-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307873" /> </identifier> </subject> <authoredOn value="2023-08-05" /> <requester> <reference value="PractitionerRole/PractitionerRole-GeneSmithENT-Example" /> </requester> <reasonCode> <coding> <system value="http://snomed.info/sct" /> <code value="103693007" /> <display value="Diagnostic procedure" /> </coding> </reasonCode> <supportingInfo> <reference value="Observation/Observation-DiseaseStatus-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-GenomicEthnicity-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoPregnancy-Example" /> </supportingInfo> <supportingInfo> <reference value="FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransplant-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransfusion-Example" /> </supportingInfo> <supportingInfo> <reference value="Condition/Condition-HearingLoss-Example" /> </supportingInfo> <note> <text value="No family history of genomic testing" /> </note> <note> <text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/Patient in need of test...example" /> </note> </ServiceRequest> </resource> <request> <method value="POST" /> <url value="ServiceRequest" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-NoPregnancy-Example" /> <resource> <Observation> <id value="Observation-NoPregnancy-Example" /> <status value="final" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="77386006" /> <display value="Pregnancy" /> </coding> </code> <subject> <reference value="Patient/Patient-MeirLieberman-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307873" /> </identifier> </subject> <effectiveDateTime value="2023-08-05" /> <valueBoolean value="false" /> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-DiseaseStatus-Example" /> <resource> <Observation> <id value="Observation-DiseaseStatus-Example" /> <status value="final" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R67.2" /> <display value="Monogenic hearing loss" /> </coding> </code> <subject> <reference value="Patient/Patient-MeirLieberman-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307873" /> </identifier> </subject> <effectiveDateTime value="2023-08-05" /> <valueCodeableConcept> <coding> <system value="http://snomed.info/sct" /> <code value="103310001" /> <display value="Patient not affected" /> </coding> </valueCodeableConcept> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" /> <resource> <FamilyMemberHistory> <id value="FamilyMemberHistory-NonConsanguinousUnion-Example" /> <extension url="http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation"> <valueReference> <reference value="Observation/Observation-NonConsanguinousUnion-Example" /> </valueReference> </extension> <status value="completed" /> <patient> <reference value="Patient/Patient-MeirLieberman-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307873" /> </identifier> </patient> <relationship> <coding> <system value="http://terminology.hl7.org/CodeSystem/v3-RoleCode" /> <code value="PRN" /> <display value="parent" /> </coding> </relationship> </FamilyMemberHistory> </resource> <request> <method value="POST" /> <url value="FamilyMemberHistory" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-NonConsanguinousUnion-Example" /> <resource> <Observation> <id value="Observation-NonConsanguinousUnion-Example" /> <status value="final" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="842009" /> <display value="Consanguinity" /> </coding> </code> <subject> <reference value="Patient/Patient-MeirLieberman-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307873" /> </identifier> </subject> <effectiveDateTime value="2023-08-05" /> <valueBoolean value="false" /> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-NoTransplant-Example" /> <resource> <Observation> <id value="Observation-NoTransplant-Example" /> <status value="final" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="77465005" /> <display value="Transplantation" /> </coding> </code> <subject> <reference value="Patient/Patient-MeirLieberman-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307873" /> </identifier> </subject> <effectiveDateTime value="2023-08-05" /> <valueBoolean value="false" /> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-NoTransfusion-Example" /> <resource> <Observation> <id value="Observation-NoTransfusion-Example" /> <status value="final" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="5447007" /> <display value="Transfusion" /> </coding> </code> <subject> <reference value="Patient/Patient-MeirLieberman-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307873" /> </identifier> </subject> <effectiveDateTime value="2023-08-05" /> <valueBoolean value="false" /> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Condition/Condition-HearingLoss-Example" /> <resource> <Condition> <id value="Condition-HearingLoss-Example" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="95820000" /> <display value="Bilateral hearing loss" /> </coding> </code> <subject> <reference value="Patient/Patient-MeirLieberman-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307873" /> </identifier> </subject> <note> <text value="hearing loss since childhood (example)" /> </note> </Condition> </resource> <request> <method value="POST" /> <url value="Condition" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Specimen/Specimen-BloodEDTA-Example" /> <resource> <Specimen> <id value="Specimen-BloodEDTA-Example" /> <identifier> <system value="https://fhir.add.nhs.uk/Id/specimenId" /> <value value="RGT03135" /> </identifier> <status value="unavailable" /> <type> <coding> <system value="http://snomed.info/sct" /> <code value="445295009" /> <display value="Blood specimen with EDTA" /> </coding> </type> <subject> <reference value="Patient/Patient-MeirLieberman-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307873" /> </identifier> </subject> <request> <reference value="ServiceRequest/ServiceRequest-NonWGSTestOrderForm-Example" /> </request> </Specimen> </resource> <request> <method value="POST" /> <url value="Specimen" /> </request> </entry> </Bundle>
Bundle-NonWGSTestOrderForm-FetalScenario-Example
Example of a Non-WGS test request sent to the central broker, as described in the Clinical Scenario:Fetus Management
| Bundle |
| id : Bundle-NonWGSTestOrderForm-FetalScenario-Example |
| type : transaction |
| entry |
| fullUrl : http://example.org/fhir/PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example |
| resource |
| id : PractitionerRole-LoisLaneKingstonClinicalGenetics-Example |
| practitioner |
| identifier |
| system : https://fhir.nhs.uk/Id/sds-user-id |
| value : 9999999999 |
| display : Dr. Lois Lane |
| organization |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| display : Kingston Hospital NHS Foundation Trust |
| specialty |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode |
| code : 311 |
| display : Clinical Genetics |
| telecom |
| system : phone |
| value : 02068457781 |
| telecom |
| system : email |
| value : lois.lane1@nhs.net |
| telecom |
| system : email |
| value : clinicalgeneticskingston@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| telecom |
| system : email |
| value : fetalmedicinekingston@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| telecom |
| system : email |
| value : gptestpracticekingston@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| request |
| method : POST |
| url : PractitionerRole |
| entry |
| fullUrl : http://example.org/fhir/Patient/Patient-RyanneBoulder-Example |
| resource |
| id : Patient-RyanneBoulder-Example |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex |
| value |
| coding |
| system : http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender |
| code : F |
| display : Female |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-EthnicCategory |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-EthnicCategoryEngland |
| code : A |
| display : White - British |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307687 |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland |
| version : 2.2.0 |
| code : 01 |
| display : Number present and verified |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : RWT13521 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| name |
| given : Ryanne |
| family : Boulder |
| gender : female |
| birthDate : 1980-09-02 |
| deceased : False |
| address |
| line : 53 Eastwick Pack Avenue |
| line : Leatherhead |
| line : Surrey |
| postalCode : KT23 3NP |
| generalPractitioner |
| identifier |
| system : https://fhir.hl7.org.uk/Id/gmp-number |
| value : G9999999 |
| display : Dr. Aero Smith |
| generalPractitioner |
| identifier |
| system : https://fhir.hl7.org.uk/Id/ODS-code |
| value : AP123 |
| display : anywhere place |
| link |
| other |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : FT-RWT13521 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| reference : https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307687 |
| type : seealso |
| request |
| method : POST |
| url : Patient |
| ifNoneExist : Patient?identifier=https://fhir.nhs.uk/Id/nhs-number|9449307687 |
| entry |
| fullUrl : http://example.org/fhir/Patient/Patient-FoetusOfRyanneBoulder-Example |
| resource |
| id : Patient-FoetusOfRyanneBoulder-Example |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : FT-RWT13521 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| gender : unknown |
| request |
| method : POST |
| url : Patient |
| ifNoneExist : Patient?identifier=urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24|FT-RWT13521 |
| entry |
| fullUrl : http://example.org/fhir/Patient/Patient-RyanneBoulderPartner-Example |
| resource |
| id : Patient-RyanneBoulderPartner-Example |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : P-RWT13521 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| gender : unknown |
| request |
| method : POST |
| url : Patient |
| ifNoneExist : Patient?identifier=urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24|P-RWT13521 |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-GenomicEthnicity-Example |
| resource |
| id : Observation-GenomicEthnicity-Example |
| status : preliminary |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 723621000000103 |
| display : Ethnicity |
| subject |
| reference : Patient/Patient-RyanneBoulder-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307687 |
| value : unknown |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example |
| resource |
| id : ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
| code : nhs |
| display : NHS |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : rare-disease-non-wgs |
| display : Rare Disease - Non-WGS |
| priority : urgent |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R21 |
| display : Fetal anomalies with a likely genetic cause |
| subject |
| reference : Patient/Patient-FoetusOfRyanneBoulder-Example |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : FT-RWT13521 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| authoredOn : 2023-09-25 |
| requester |
| reference : PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example |
| reasonCode |
| coding |
| system : http://snomed.info/sct |
| code : 243787009 |
| display : Antenatal screening |
| supportingInfo |
| reference : Observation/Observation-HistoryOfFetalLoss-Example |
| supportingInfo |
| reference : Observation/Observation-NonConsanguinousUnion-Example |
| supportingInfo |
| reference : FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnionRyanneBoulder-Example |
| supportingInfo |
| reference : Observation/Observation-GenomicEthnicity-Example |
| supportingInfo |
| reference : Observation/Observation-PregnancyConfirmation-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransplant-Example |
| supportingInfo |
| reference : Observation/Observation-NoFirstTrimesterFetalAnomalies-Example |
| supportingInfo |
| reference : Observation/Observation-NoSecondTrimesterFetalAnomalies-Example |
| supportingInfo |
| reference : Procedure/Procedure-InVitroFertilisation-Example |
| note |
| text : Samples are to be provided at a later date |
| note |
| text : No family history of relevant testing |
| note |
| text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder |
| request |
| method : POST |
| url : ServiceRequest |
| entry |
| fullUrl : http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderFormUpdated-FetalScenario-Example |
| resource |
| id : ServiceRequest-NonWGSTestOrderFormUpdated-FetalScenario-Example |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
| code : nhs |
| display : NHS |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : rare-disease-non-wgs |
| display : Rare Disease - Non-WGS |
| priority : urgent |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R21 |
| display : Fetal anomalies with a likely genetic cause |
| subject |
| reference : Patient/Patient-FoetusOfRyanneBoulder-Example |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : FT-RWT13521 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| authoredOn : 2023-09-25 |
| requester |
| reference : PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example |
| reasonCode |
| coding |
| system : http://snomed.info/sct |
| code : 243787009 |
| display : Antenatal screening |
| supportingInfo |
| reference : Observation/Observation-HistoryOfFetalLoss-Example |
| supportingInfo |
| reference : Observation/Observation-NonConsanguinousUnion-Example |
| supportingInfo |
| reference : FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnionRyanneBoulder-Example |
| supportingInfo |
| reference : Observation/Observation-GenomicEthnicity-Example |
| supportingInfo |
| reference : Observation/Observation-PregnancyConfirmation-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransplant-Example |
| supportingInfo |
| reference : Observation/Observation-NoFirstTrimesterFetalAnomalies-Example |
| supportingInfo |
| reference : Observation/Observation-NoSecondTrimesterFetalAnomalies-Example |
| supportingInfo |
| reference : Procedure/Procedure-InVitroFertilisation-Example |
| supportingInfo |
| reference : Specimen/Specimen-BloodEDTA-Example |
| supportingInfo |
| reference : Specimen/Specimen-RyanneBoulderSaliva-Example |
| supportingInfo |
| reference : Specimen/Specimen-RyanneBoulderPartnerSaliva-Example |
| note |
| text : No family history of relevant testing |
| note |
| text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder |
| request |
| method : POST |
| url : ServiceRequest |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-PregnancyConfirmation-Example |
| resource |
| id : Observation-PregnancyConfirmation-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 77386006 |
| display : Pregnancy |
| subject |
| reference : Patient/Patient-RyanneBoulder-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307687 |
| component |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 720451000000102 |
| display : Assisted conception |
| component |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 226081000000107 |
| display : Gestational age |
| value |
| value : 87 |
| unit : day |
| system : http://unitsofmeasure.org |
| code : d |
| component |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 161714006 |
| display : Estimated date of delivery |
| value : 2024-05-01 |
| effective : 2023-09-25 |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-NonConsanguinousUnion-Example |
| resource |
| id : Observation-NonConsanguinousUnion-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 842009 |
| display : Consanguinity |
| subject |
| reference : Patient/Patient-FoetusOfRyanneBoulder-Example |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : FT-RWT13521 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| effective : 2023-09-25 |
| value : False |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-NoTransplant-Example |
| resource |
| id : Observation-NoTransplant-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 77465005 |
| display : Transplantation |
| subject |
| reference : Patient/Patient-RyanneBoulder-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307687 |
| effective : 2023-09-25 |
| value : False |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-NoFirstTrimesterFetalAnomalies-Example |
| resource |
| id : Observation-NoFirstTrimesterFetalAnomalies-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 609520005 |
| display : Disorder of fetal structure |
| text : First Trimester Anomalies? |
| subject |
| reference : Patient/Patient-RyanneBoulder-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307687 |
| component |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 255246003 |
| display : First trimester |
| effective : 2023-09-25 |
| value : False |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-NoSecondTrimesterFetalAnomalies-Example |
| resource |
| id : Observation-NoSecondTrimesterFetalAnomalies-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 609520005 |
| display : Disorder of fetal structure |
| text : Second Trimester Anomalies? |
| subject |
| reference : Patient/Patient-RyanneBoulder-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307687 |
| component |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 255247007 |
| display : Second trimester |
| effective : 2023-09-25 |
| value : False |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Procedure/Procedure-InVitroFertilisation-Example |
| resource |
| id : Procedure-InVitroFertilisation-Example |
| status : completed |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 52637005 |
| display : In vitro fertilisation |
| subject |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307687 |
| performed : 2023-09-25 |
| note |
| text : Woman`s own egg |
| request |
| method : POST |
| url : Procedure |
| entry |
| fullUrl : http://example.org/fhir/Specimen/Specimen-BloodEDTA-Example |
| resource |
| id : Specimen-BloodEDTA-Example |
| identifier |
| system : https://fhir.kingstonhospital.nhs.uk/Id/specimenId |
| value : ROA-69050-216738 |
| status : unavailable |
| type |
| coding |
| system : http://snomed.info/sct |
| code : 445295009 |
| display : Blood specimen with EDTA |
| subject |
| reference : Patient/Patient-RyanneBoulder-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307687 |
| request |
| reference : ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example |
| request |
| method : POST |
| url : Specimen |
| entry |
| fullUrl : http://example.org/fhir/Specimen/Specimen-RyanneBoulderParnerSaliva-Example |
| resource |
| id : Specimen-RyanneBoulderParnerSaliva-Example |
| identifier |
| system : https://fhir.kingstonhospital.nhs.uk//Id/specimenId |
| value : ROA-69050-FTH-RWT13521 |
| status : available |
| type |
| coding |
| system : http://snomed.info/sct |
| code : 119342007 |
| display : Saliva specimen |
| subject |
| reference : Patient/Patient-RyanneBoulderPartner-Example |
| container |
| description : Container:ROA-69050-FTH-RWT13521 contains Saliva for Father |
| request |
| reference : ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example |
| request |
| method : POST |
| url : Specimen |
| entry |
| fullUrl : http://example.org/fhir/RelatedPerson/RelatedPerson-RyanneBoulder-Example |
| resource |
| id : RelatedPerson-RyanneBoulder-Example |
| patient |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : FT-RWT13521 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| relationship |
| coding |
| system : http://terminology.hl7.org/CodeSystem/v3-RoleCode |
| code : NMTHF |
| display : natural mother of fetus |
| request |
| method : POST |
| url : RelatedPerson |
| entry |
| fullUrl : http://example.org/fhir/RelatedPerson/RelatedPerson-RyanneBoulderPartner-Example |
| resource |
| id : RelatedPerson-RyanneBoulderPartner-Example |
| patient |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : FT-RWT13521 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| relationship |
| coding |
| system : http://terminology.hl7.org/CodeSystem/v3-RoleCode |
| code : NFTHF |
| display : natural father of fetus |
| request |
| method : POST |
| url : RelatedPerson |
| entry |
| fullUrl : http://example.org/fhir/FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnionRyanneBoulder-Example |
| resource |
| id : FamilyMemberHistory-NonConsanguinousUnionRyanneBoulder-Example |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation |
| value |
| reference : Observation/Observation-NonConsanguinousUnion-Example |
| status : completed |
| patient |
| reference : Patient/Patient-FoetusOfRyanneBoulder-Example |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : FT-RWT13521 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| relationship |
| coding |
| system : http://terminology.hl7.org/CodeSystem/v3-RoleCode |
| code : NMTHF |
| display : natural mother of fetus |
| request |
| method : POST |
| url : FamilyMemberHistory |
{ "resourceType": "Bundle", "id": "Bundle-NonWGSTestOrderForm-FetalScenario-Example", "type": "transaction", "entry": [ { "fullUrl": "http://example.org/fhir/PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example", "resource": { "resourceType": "PractitionerRole", "id": "PractitionerRole-LoisLaneKingstonClinicalGenetics-Example", "practitioner": { "identifier": { "system": "https://fhir.nhs.uk/Id/sds-user-id", "value": "9999999999" }, "display": "Dr. Lois Lane" }, "organization": { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RAX" }, "display": "Kingston Hospital NHS Foundation Trust" }, "specialty": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode", "code": "311", "display": "Clinical Genetics" } ] } ], "telecom": [ { "system": "phone", "value": "02068457781" }, { "system": "email", "value": "lois.lane1@nhs.net" }, { "system": "email", "value": "clinicalgeneticskingston@nhs.net", "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/contactpoint-comment", "valueString": "reporting" } ] }, { "system": "email", "value": "fetalmedicinekingston@nhs.net", "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/contactpoint-comment", "valueString": "reporting" } ] }, { "system": "email", "value": "gptestpracticekingston@nhs.net", "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/contactpoint-comment", "valueString": "reporting" } ] } ] }, "request": { "method": "POST", "url": "PractitionerRole" } }, { "fullUrl": "http://example.org/fhir/Patient/Patient-RyanneBoulder-Example", "resource": { "resourceType": "Patient", "id": "Patient-RyanneBoulder-Example", "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex", "valueCodeableConcept": { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender", "code": "F", "display": "Female" } ] } }, { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-EthnicCategory", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-EthnicCategoryEngland", "code": "A", "display": "White - British" } ] } } ], "identifier": [ { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307687", "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland", "version": "2.2.0", "code": "01", "display": "Number present and verified" } ] } } ] }, { "system": "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", "value": "RWT13521", "assigner": { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RAX" } } } ], "name": [ { "given": [ "Ryanne" ], "family": "Boulder" } ], "gender": "female", "birthDate": "1980-09-02", "deceasedBoolean": false, "address": [ { "line": [ "53 Eastwick Pack Avenue", "Leatherhead", "Surrey" ], "postalCode": "KT23 3NP" } ], "generalPractitioner": [ { "identifier": { "system": "https://fhir.hl7.org.uk/Id/gmp-number", "value": "G9999999" }, "display": "Dr. Aero Smith" }, { "identifier": { "system": "https://fhir.hl7.org.uk/Id/ODS-code", "value": "AP123" }, "display": "anywhere place" } ], "link": [ { "other": { "identifier": { "system": "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", "value": "FT-RWT13521", "assigner": { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RAX" } } }, "reference": "https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307687" }, "type": "seealso" } ] }, "request": { "method": "POST", "url": "Patient", "ifNoneExist": "Patient?identifier=https://fhir.nhs.uk/Id/nhs-number|9449307687" } }, { "fullUrl": "http://example.org/fhir/Patient/Patient-FoetusOfRyanneBoulder-Example", "resource": { "resourceType": "Patient", "id": "Patient-FoetusOfRyanneBoulder-Example", "identifier": [ { "system": "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", "value": "FT-RWT13521", "assigner": { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RAX" } } } ], "gender": "unknown" }, "request": { "method": "POST", "url": "Patient", "ifNoneExist": "Patient?identifier=urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24|FT-RWT13521" } }, { "fullUrl": "http://example.org/fhir/Patient/Patient-RyanneBoulderPartner-Example", "resource": { "resourceType": "Patient", "id": "Patient-RyanneBoulderPartner-Example", "identifier": [ { "system": "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", "value": "P-RWT13521", "assigner": { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RAX" } } } ], "gender": "unknown" }, "request": { "method": "POST", "url": "Patient", "ifNoneExist": "Patient?identifier=urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24|P-RWT13521" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-GenomicEthnicity-Example", "resource": { "resourceType": "Observation", "id": "Observation-GenomicEthnicity-Example", "status": "preliminary", "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "723621000000103", "display": "Ethnicity" } ] }, "subject": { "reference": "Patient/Patient-RyanneBoulder-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307687" } }, "valueString": "unknown" }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example", "resource": { "resourceType": "ServiceRequest", "id": "ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example", "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } } ], "status": "active", "intent": "order", "category": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", "code": "rare-disease-non-wgs", "display": "Rare Disease - Non-WGS" } ] } ], "priority": "urgent", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "R21", "display": "Fetal anomalies with a likely genetic cause" } ] }, "subject": { "reference": "Patient/Patient-FoetusOfRyanneBoulder-Example", "identifier": { "system": "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", "value": "FT-RWT13521", "assigner": { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RAX" } } } }, "authoredOn": "2023-09-25", "requester": { "reference": "PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example" }, "reasonCode": [ { "coding": [ { "system": "http://snomed.info/sct", "code": "243787009", "display": "Antenatal screening" } ] } ], "supportingInfo": [ { "reference": "Observation/Observation-HistoryOfFetalLoss-Example" }, { "reference": "Observation/Observation-NonConsanguinousUnion-Example" }, { "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnionRyanneBoulder-Example" }, { "reference": "Observation/Observation-GenomicEthnicity-Example" }, { "reference": "Observation/Observation-PregnancyConfirmation-Example" }, { "reference": "Observation/Observation-NoTransplant-Example" }, { "reference": "Observation/Observation-NoFirstTrimesterFetalAnomalies-Example" }, { "reference": "Observation/Observation-NoSecondTrimesterFetalAnomalies-Example" }, { "reference": "Procedure/Procedure-InVitroFertilisation-Example" } ], "note": [ { "text": "Samples are to be provided at a later date" }, { "text": "No family history of relevant testing" }, { "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder" } ] }, "request": { "method": "POST", "url": "ServiceRequest" } }, { "fullUrl": "http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderFormUpdated-FetalScenario-Example", "resource": { "resourceType": "ServiceRequest", "id": "ServiceRequest-NonWGSTestOrderFormUpdated-FetalScenario-Example", "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } } ], "status": "active", "intent": "order", "category": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", "code": "rare-disease-non-wgs", "display": "Rare Disease - Non-WGS" } ] } ], "priority": "urgent", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "R21", "display": "Fetal anomalies with a likely genetic cause" } ] }, "subject": { "reference": "Patient/Patient-FoetusOfRyanneBoulder-Example", "identifier": { "system": "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", "value": "FT-RWT13521", "assigner": { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RAX" } } } }, "authoredOn": "2023-09-25", "requester": { "reference": "PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example" }, "reasonCode": [ { "coding": [ { "system": "http://snomed.info/sct", "code": "243787009", "display": "Antenatal screening" } ] } ], "supportingInfo": [ { "reference": "Observation/Observation-HistoryOfFetalLoss-Example" }, { "reference": "Observation/Observation-NonConsanguinousUnion-Example" }, { "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnionRyanneBoulder-Example" }, { "reference": "Observation/Observation-GenomicEthnicity-Example" }, { "reference": "Observation/Observation-PregnancyConfirmation-Example" }, { "reference": "Observation/Observation-NoTransplant-Example" }, { "reference": "Observation/Observation-NoFirstTrimesterFetalAnomalies-Example" }, { "reference": "Observation/Observation-NoSecondTrimesterFetalAnomalies-Example" }, { "reference": "Procedure/Procedure-InVitroFertilisation-Example" }, { "reference": "Specimen/Specimen-BloodEDTA-Example" }, { "reference": "Specimen/Specimen-RyanneBoulderSaliva-Example" }, { "reference": "Specimen/Specimen-RyanneBoulderPartnerSaliva-Example" } ], "note": [ { "text": "No family history of relevant testing" }, { "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder" } ] }, "request": { "method": "POST", "url": "ServiceRequest" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-PregnancyConfirmation-Example", "resource": { "resourceType": "Observation", "id": "Observation-PregnancyConfirmation-Example", "status": "final", "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "77386006", "display": "Pregnancy" } ] }, "subject": { "reference": "Patient/Patient-RyanneBoulder-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307687" } }, "component": [ { "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "720451000000102", "display": "Assisted conception" } ] } }, { "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "226081000000107", "display": "Gestational age" } ] }, "valueQuantity": { "value": 87, "unit": "day", "system": "http://unitsofmeasure.org", "code": "d" } }, { "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "161714006", "display": "Estimated date of delivery" } ] }, "valueDateTime": "2024-05-01" } ], "effectiveDateTime": "2023-09-25" }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-NonConsanguinousUnion-Example", "resource": { "resourceType": "Observation", "id": "Observation-NonConsanguinousUnion-Example", "status": "final", "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "842009", "display": "Consanguinity" } ] }, "subject": { "reference": "Patient/Patient-FoetusOfRyanneBoulder-Example", "identifier": [ { "system": "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", "value": "FT-RWT13521", "assigner": { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RAX" } } } ] }, "effectiveDateTime": "2023-09-25", "valueBoolean": false }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-NoTransplant-Example", "resource": { "resourceType": "Observation", "id": "Observation-NoTransplant-Example", "status": "final", "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "77465005", "display": "Transplantation" } ] }, "subject": { "reference": "Patient/Patient-RyanneBoulder-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307687" } }, "effectiveDateTime": "2023-09-25", "valueBoolean": false }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-NoFirstTrimesterFetalAnomalies-Example", "resource": { "resourceType": "Observation", "id": "Observation-NoFirstTrimesterFetalAnomalies-Example", "status": "final", "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "609520005", "display": "Disorder of fetal structure" } ], "text": "First Trimester Anomalies?" }, "subject": { "reference": "Patient/Patient-RyanneBoulder-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307687" } }, "component": [ { "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "255246003", "display": "First trimester" } ] } } ], "effectiveDateTime": "2023-09-25", "valueBoolean": false }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-NoSecondTrimesterFetalAnomalies-Example", "resource": { "resourceType": "Observation", "id": "Observation-NoSecondTrimesterFetalAnomalies-Example", "status": "final", "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "609520005", "display": "Disorder of fetal structure" } ], "text": "Second Trimester Anomalies?" }, "subject": { "reference": "Patient/Patient-RyanneBoulder-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307687" } }, "component": [ { "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "255247007", "display": "Second trimester" } ] } } ], "effectiveDateTime": "2023-09-25", "valueBoolean": false }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/Procedure/Procedure-InVitroFertilisation-Example", "resource": { "resourceType": "Procedure", "id": "Procedure-InVitroFertilisation-Example", "status": "completed", "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "52637005", "display": "In vitro fertilisation" } ] }, "subject": { "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307687" } }, "performedDateTime": "2023-09-25", "note": [ { "text": "Woman`s own egg" } ] }, "request": { "method": "POST", "url": "Procedure" } }, { "fullUrl": "http://example.org/fhir/Specimen/Specimen-BloodEDTA-Example", "resource": { "resourceType": "Specimen", "id": "Specimen-BloodEDTA-Example", "identifier": [ { "system": "https://fhir.kingstonhospital.nhs.uk/Id/specimenId", "value": "ROA-69050-216738" } ], "status": "unavailable", "type": { "coding": [ { "system": "http://snomed.info/sct", "code": "445295009", "display": "Blood specimen with EDTA" } ] }, "subject": { "reference": "Patient/Patient-RyanneBoulder-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307687" } }, "request": [ { "reference": "ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example" } ] }, "request": { "method": "POST", "url": "Specimen" } }, { "fullUrl": "http://example.org/fhir/Specimen/Specimen-RyanneBoulderParnerSaliva-Example", "resource": { "resourceType": "Specimen", "id": "Specimen-RyanneBoulderParnerSaliva-Example", "identifier": [ { "system": "https://fhir.kingstonhospital.nhs.uk//Id/specimenId", "value": "ROA-69050-FTH-RWT13521" } ], "status": "available", "type": { "coding": [ { "system": "http://snomed.info/sct", "code": "119342007", "display": "Saliva specimen" } ] }, "subject": { "reference": "Patient/Patient-RyanneBoulderPartner-Example" }, "container": [ { "description": "Container:ROA-69050-FTH-RWT13521 contains Saliva for Father" } ], "request": [ { "reference": "ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example" } ] }, "request": { "method": "POST", "url": "Specimen" } }, { "fullUrl": "http://example.org/fhir/RelatedPerson/RelatedPerson-RyanneBoulder-Example", "resource": { "resourceType": "RelatedPerson", "id": "RelatedPerson-RyanneBoulder-Example", "patient": { "identifier": { "system": "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", "value": "FT-RWT13521", "assigner": { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RAX" } } } }, "relationship": [ { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/v3-RoleCode", "code": "NMTHF", "display": "natural mother of fetus" } ] } ] }, "request": { "method": "POST", "url": "RelatedPerson" } }, { "fullUrl": "http://example.org/fhir/RelatedPerson/RelatedPerson-RyanneBoulderPartner-Example", "resource": { "resourceType": "RelatedPerson", "id": "RelatedPerson-RyanneBoulderPartner-Example", "patient": { "identifier": { "system": "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", "value": "FT-RWT13521", "assigner": { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RAX" } } } }, "relationship": [ { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/v3-RoleCode", "code": "NFTHF", "display": "natural father of fetus" } ] } ] }, "request": { "method": "POST", "url": "RelatedPerson" } }, { "fullUrl": "http://example.org/fhir/FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnionRyanneBoulder-Example", "resource": { "resourceType": "FamilyMemberHistory", "id": "FamilyMemberHistory-NonConsanguinousUnionRyanneBoulder-Example", "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation", "valueReference": { "reference": "Observation/Observation-NonConsanguinousUnion-Example" } } ], "status": "completed", "patient": { "reference": "Patient/Patient-FoetusOfRyanneBoulder-Example", "identifier": { "system": "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", "value": "FT-RWT13521", "assigner": { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RAX" } } } }, "relationship": { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/v3-RoleCode", "code": "NMTHF", "display": "natural mother of fetus" } ] } }, "request": { "method": "POST", "url": "FamilyMemberHistory" } } ] }
<Bundle xmlns="http://hl7.org/fhir"> <id value="Bundle-NonWGSTestOrderForm-FetalScenario-Example" /> <type value="transaction" /> <entry> <fullUrl value="http://example.org/fhir/PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example" /> <resource> <PractitionerRole> <id value="PractitionerRole-LoisLaneKingstonClinicalGenetics-Example" /> <practitioner> <identifier> <system value="https://fhir.nhs.uk/Id/sds-user-id" /> <value value="9999999999" /> </identifier> <display value="Dr. Lois Lane" /> </practitioner> <organization> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX" /> </identifier> <display value="Kingston Hospital NHS Foundation Trust" /> </organization> <specialty> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode" /> <code value="311" /> <display value="Clinical Genetics" /> </coding> </specialty> <telecom> <system value="phone" /> <value value="02068457781" /> </telecom> <telecom> <system value="email" /> <value value="lois.lane1@nhs.net" /> </telecom> <telecom> <extension url="http://hl7.org/fhir/StructureDefinition/contactpoint-comment"> <valueString value="reporting" /> </extension> <system value="email" /> <value value="clinicalgeneticskingston@nhs.net" /> </telecom> <telecom> <extension url="http://hl7.org/fhir/StructureDefinition/contactpoint-comment"> <valueString value="reporting" /> </extension> <system value="email" /> <value value="fetalmedicinekingston@nhs.net" /> </telecom> <telecom> <extension url="http://hl7.org/fhir/StructureDefinition/contactpoint-comment"> <valueString value="reporting" /> </extension> <system value="email" /> <value value="gptestpracticekingston@nhs.net" /> </telecom> </PractitionerRole> </resource> <request> <method value="POST" /> <url value="PractitionerRole" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Patient/Patient-RyanneBoulder-Example" /> <resource> <Patient> <id value="Patient-RyanneBoulder-Example" /> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex"> <valueCodeableConcept> <coding> <system value="http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender" /> <code value="F" /> <display value="Female" /> </coding> </valueCodeableConcept> </extension> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-EthnicCategory"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-EthnicCategoryEngland" /> <code value="A" /> <display value="White - British" /> </coding> </valueCodeableConcept> </extension> <identifier> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland" /> <version value="2.2.0" /> <code value="01" /> <display value="Number present and verified" /> </coding> </valueCodeableConcept> </extension> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307687" /> </identifier> <identifier> <system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" /> <value value="RWT13521" /> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX" /> </identifier> </assigner> </identifier> <name> <family value="Boulder" /> <given value="Ryanne" /> </name> <gender value="female" /> <birthDate value="1980-09-02" /> <deceasedBoolean value="false" /> <address> <line value="53 Eastwick Pack Avenue" /> <line value="Leatherhead" /> <line value="Surrey" /> <postalCode value="KT23 3NP" /> </address> <generalPractitioner> <identifier> <system value="https://fhir.hl7.org.uk/Id/gmp-number" /> <value value="G9999999" /> </identifier> <display value="Dr. Aero Smith" /> </generalPractitioner> <generalPractitioner> <identifier> <system value="https://fhir.hl7.org.uk/Id/ODS-code" /> <value value="AP123" /> </identifier> <display value="anywhere place" /> </generalPractitioner> <link> <other> <reference value="https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307687" /> <identifier> <system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" /> <value value="FT-RWT13521" /> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX" /> </identifier> </assigner> </identifier> </other> <type value="seealso" /> </link> </Patient> </resource> <request> <method value="POST" /> <url value="Patient" /> <ifNoneExist value="Patient?identifier=https://fhir.nhs.uk/Id/nhs-number|9449307687" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Patient/Patient-FoetusOfRyanneBoulder-Example" /> <resource> <Patient> <id value="Patient-FoetusOfRyanneBoulder-Example" /> <identifier> <system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" /> <value value="FT-RWT13521" /> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX" /> </identifier> </assigner> </identifier> <gender value="unknown" /> </Patient> </resource> <request> <method value="POST" /> <url value="Patient" /> <ifNoneExist value="Patient?identifier=urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24|FT-RWT13521" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Patient/Patient-RyanneBoulderPartner-Example" /> <resource> <Patient> <id value="Patient-RyanneBoulderPartner-Example" /> <identifier> <system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" /> <value value="P-RWT13521" /> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX" /> </identifier> </assigner> </identifier> <gender value="unknown" /> </Patient> </resource> <request> <method value="POST" /> <url value="Patient" /> <ifNoneExist value="Patient?identifier=urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24|P-RWT13521" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-GenomicEthnicity-Example" /> <resource> <Observation> <id value="Observation-GenomicEthnicity-Example" /> <status value="preliminary" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="723621000000103" /> <display value="Ethnicity" /> </coding> </code> <subject> <reference value="Patient/Patient-RyanneBoulder-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307687" /> </identifier> </subject> <valueString value="unknown" /> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example" /> <resource> <ServiceRequest> <id value="ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example" /> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <status value="active" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="rare-disease-non-wgs" /> <display value="Rare Disease - Non-WGS" /> </coding> </category> <priority value="urgent" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R21" /> <display value="Fetal anomalies with a likely genetic cause" /> </coding> </code> <subject> <reference value="Patient/Patient-FoetusOfRyanneBoulder-Example" /> <identifier> <system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" /> <value value="FT-RWT13521" /> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX" /> </identifier> </assigner> </identifier> </subject> <authoredOn value="2023-09-25" /> <requester> <reference value="PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example" /> </requester> <reasonCode> <coding> <system value="http://snomed.info/sct" /> <code value="243787009" /> <display value="Antenatal screening" /> </coding> </reasonCode> <supportingInfo> <reference value="Observation/Observation-HistoryOfFetalLoss-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnionRyanneBoulder-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-GenomicEthnicity-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-PregnancyConfirmation-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransplant-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoFirstTrimesterFetalAnomalies-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoSecondTrimesterFetalAnomalies-Example" /> </supportingInfo> <supportingInfo> <reference value="Procedure/Procedure-InVitroFertilisation-Example" /> </supportingInfo> <note> <text value="Samples are to be provided at a later date" /> </note> <note> <text value="No family history of relevant testing" /> </note> <note> <text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder" /> </note> </ServiceRequest> </resource> <request> <method value="POST" /> <url value="ServiceRequest" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderFormUpdated-FetalScenario-Example" /> <resource> <ServiceRequest> <id value="ServiceRequest-NonWGSTestOrderFormUpdated-FetalScenario-Example" /> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <status value="active" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="rare-disease-non-wgs" /> <display value="Rare Disease - Non-WGS" /> </coding> </category> <priority value="urgent" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R21" /> <display value="Fetal anomalies with a likely genetic cause" /> </coding> </code> <subject> <reference value="Patient/Patient-FoetusOfRyanneBoulder-Example" /> <identifier> <system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" /> <value value="FT-RWT13521" /> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX" /> </identifier> </assigner> </identifier> </subject> <authoredOn value="2023-09-25" /> <requester> <reference value="PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example" /> </requester> <reasonCode> <coding> <system value="http://snomed.info/sct" /> <code value="243787009" /> <display value="Antenatal screening" /> </coding> </reasonCode> <supportingInfo> <reference value="Observation/Observation-HistoryOfFetalLoss-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnionRyanneBoulder-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-GenomicEthnicity-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-PregnancyConfirmation-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransplant-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoFirstTrimesterFetalAnomalies-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoSecondTrimesterFetalAnomalies-Example" /> </supportingInfo> <supportingInfo> <reference value="Procedure/Procedure-InVitroFertilisation-Example" /> </supportingInfo> <supportingInfo> <reference value="Specimen/Specimen-BloodEDTA-Example" /> </supportingInfo> <supportingInfo> <reference value="Specimen/Specimen-RyanneBoulderSaliva-Example" /> </supportingInfo> <supportingInfo> <reference value="Specimen/Specimen-RyanneBoulderPartnerSaliva-Example" /> </supportingInfo> <note> <text value="No family history of relevant testing" /> </note> <note> <text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder" /> </note> </ServiceRequest> </resource> <request> <method value="POST" /> <url value="ServiceRequest" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-PregnancyConfirmation-Example" /> <resource> <Observation> <id value="Observation-PregnancyConfirmation-Example" /> <status value="final" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="77386006" /> <display value="Pregnancy" /> </coding> </code> <subject> <reference value="Patient/Patient-RyanneBoulder-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307687" /> </identifier> </subject> <effectiveDateTime value="2023-09-25" /> <component> <code> <coding> <system value="http://snomed.info/sct" /> <code value="720451000000102" /> <display value="Assisted conception" /> </coding> </code> </component> <component> <code> <coding> <system value="http://snomed.info/sct" /> <code value="226081000000107" /> <display value="Gestational age" /> </coding> </code> <valueQuantity> <value value="87" /> <unit value="day" /> <system value="http://unitsofmeasure.org" /> <code value="d" /> </valueQuantity> </component> <component> <code> <coding> <system value="http://snomed.info/sct" /> <code value="161714006" /> <display value="Estimated date of delivery" /> </coding> </code> <valueDateTime value="2024-05-01" /> </component> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-NonConsanguinousUnion-Example" /> <resource> <Observation> <id value="Observation-NonConsanguinousUnion-Example" /> <status value="final" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="842009" /> <display value="Consanguinity" /> </coding> </code> <subject> <reference value="Patient/Patient-FoetusOfRyanneBoulder-Example" /> <identifier> <system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" /> <value value="FT-RWT13521" /> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX" /> </identifier> </assigner> </identifier> </subject> <effectiveDateTime value="2023-09-25" /> <valueBoolean value="false" /> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-NoTransplant-Example" /> <resource> <Observation> <id value="Observation-NoTransplant-Example" /> <status value="final" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="77465005" /> <display value="Transplantation" /> </coding> </code> <subject> <reference value="Patient/Patient-RyanneBoulder-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307687" /> </identifier> </subject> <effectiveDateTime value="2023-09-25" /> <valueBoolean value="false" /> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-NoFirstTrimesterFetalAnomalies-Example" /> <resource> <Observation> <id value="Observation-NoFirstTrimesterFetalAnomalies-Example" /> <status value="final" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="609520005" /> <display value="Disorder of fetal structure" /> </coding> <text value="First Trimester Anomalies?" /> </code> <subject> <reference value="Patient/Patient-RyanneBoulder-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307687" /> </identifier> </subject> <effectiveDateTime value="2023-09-25" /> <valueBoolean value="false" /> <component> <code> <coding> <system value="http://snomed.info/sct" /> <code value="255246003" /> <display value="First trimester" /> </coding> </code> </component> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-NoSecondTrimesterFetalAnomalies-Example" /> <resource> <Observation> <id value="Observation-NoSecondTrimesterFetalAnomalies-Example" /> <status value="final" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="609520005" /> <display value="Disorder of fetal structure" /> </coding> <text value="Second Trimester Anomalies?" /> </code> <subject> <reference value="Patient/Patient-RyanneBoulder-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307687" /> </identifier> </subject> <effectiveDateTime value="2023-09-25" /> <valueBoolean value="false" /> <component> <code> <coding> <system value="http://snomed.info/sct" /> <code value="255247007" /> <display value="Second trimester" /> </coding> </code> </component> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Procedure/Procedure-InVitroFertilisation-Example" /> <resource> <Procedure> <id value="Procedure-InVitroFertilisation-Example" /> <status value="completed" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="52637005" /> <display value="In vitro fertilisation" /> </coding> </code> <subject> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307687" /> </identifier> </subject> <performedDateTime value="2023-09-25" /> <note> <text value="Woman`s own egg" /> </note> </Procedure> </resource> <request> <method value="POST" /> <url value="Procedure" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Specimen/Specimen-BloodEDTA-Example" /> <resource> <Specimen> <id value="Specimen-BloodEDTA-Example" /> <identifier> <system value="https://fhir.kingstonhospital.nhs.uk/Id/specimenId" /> <value value="ROA-69050-216738" /> </identifier> <status value="unavailable" /> <type> <coding> <system value="http://snomed.info/sct" /> <code value="445295009" /> <display value="Blood specimen with EDTA" /> </coding> </type> <subject> <reference value="Patient/Patient-RyanneBoulder-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307687" /> </identifier> </subject> <request> <reference value="ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example" /> </request> </Specimen> </resource> <request> <method value="POST" /> <url value="Specimen" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Specimen/Specimen-RyanneBoulderParnerSaliva-Example" /> <resource> <Specimen> <id value="Specimen-RyanneBoulderParnerSaliva-Example" /> <identifier> <system value="https://fhir.kingstonhospital.nhs.uk//Id/specimenId" /> <value value="ROA-69050-FTH-RWT13521" /> </identifier> <status value="available" /> <type> <coding> <system value="http://snomed.info/sct" /> <code value="119342007" /> <display value="Saliva specimen" /> </coding> </type> <subject> <reference value="Patient/Patient-RyanneBoulderPartner-Example" /> </subject> <request> <reference value="ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example" /> </request> <container> <description value="Container:ROA-69050-FTH-RWT13521 contains Saliva for Father" /> </container> </Specimen> </resource> <request> <method value="POST" /> <url value="Specimen" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/RelatedPerson/RelatedPerson-RyanneBoulder-Example" /> <resource> <RelatedPerson> <id value="RelatedPerson-RyanneBoulder-Example" /> <patient> <identifier> <system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" /> <value value="FT-RWT13521" /> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX" /> </identifier> </assigner> </identifier> </patient> <relationship> <coding> <system value="http://terminology.hl7.org/CodeSystem/v3-RoleCode" /> <code value="NMTHF" /> <display value="natural mother of fetus" /> </coding> </relationship> </RelatedPerson> </resource> <request> <method value="POST" /> <url value="RelatedPerson" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/RelatedPerson/RelatedPerson-RyanneBoulderPartner-Example" /> <resource> <RelatedPerson> <id value="RelatedPerson-RyanneBoulderPartner-Example" /> <patient> <identifier> <system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" /> <value value="FT-RWT13521" /> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX" /> </identifier> </assigner> </identifier> </patient> <relationship> <coding> <system value="http://terminology.hl7.org/CodeSystem/v3-RoleCode" /> <code value="NFTHF" /> <display value="natural father of fetus" /> </coding> </relationship> </RelatedPerson> </resource> <request> <method value="POST" /> <url value="RelatedPerson" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnionRyanneBoulder-Example" /> <resource> <FamilyMemberHistory> <id value="FamilyMemberHistory-NonConsanguinousUnionRyanneBoulder-Example" /> <extension url="http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation"> <valueReference> <reference value="Observation/Observation-NonConsanguinousUnion-Example" /> </valueReference> </extension> <status value="completed" /> <patient> <reference value="Patient/Patient-FoetusOfRyanneBoulder-Example" /> <identifier> <system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" /> <value value="FT-RWT13521" /> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX" /> </identifier> </assigner> </identifier> </patient> <relationship> <coding> <system value="http://terminology.hl7.org/CodeSystem/v3-RoleCode" /> <code value="NMTHF" /> <display value="natural mother of fetus" /> </coding> </relationship> </FamilyMemberHistory> </resource> <request> <method value="POST" /> <url value="FamilyMemberHistory" /> </request> </entry> </Bundle>
Bundle-NonWGSTestOrderForm-Reanalysis-Example
Example of a Non-WGS test request sent to the central broker, as described in the Clinical Scenario: Re-analysis (R387)
| Bundle |
| id : Bundle-NonWGSTestOrderForm-Reanalysis-Example |
| type : transaction |
| entry |
| fullUrl : http://example.org/fhir/PractitionerRole/PractitionerRole-HazelSmithRenal-Example |
| resource |
| id : PractitionerRole-HazelSmithRenal-Example |
| practitioner |
| identifier |
| system : https://fhir.nhs.uk/Id/sds-user-id |
| value : 9999999998 |
| display : Dr. Hazel Smith |
| organization |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX01 |
| display : Kingston Hospital NHS Foundation Trust |
| specialty |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode |
| code : 361 |
| display : Renal Medicine |
| telecom |
| system : phone |
| value : 02085467711 |
| telecom |
| system : email |
| value : Hazel.smith12@nhs.net |
| telecom |
| system : email |
| value : renalseckingston@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| telecom |
| system : email |
| value : neuroseckingston@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| request |
| method : POST |
| url : PractitionerRole |
| entry |
| fullUrl : http://example.org/fhir/Patient/Patient-DemeizaSeo-Example |
| resource |
| id : Patient-DemeizaSeo-Example |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex |
| value |
| coding |
| system : http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender |
| code : F |
| display : Female |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-EthnicCategory |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-EthnicCategoryEngland |
| code : R |
| display : Other Ethnic Groups - Chinese |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449306559 |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland |
| version : 2.2.0 |
| code : 01 |
| display : Number present and verified |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : RWT16378 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| name |
| given : Demeiza |
| family : Seo |
| gender : female |
| birthDate : 2011-01-26 |
| deceased : False |
| address |
| line : 1 Aragon Avenue, |
| line : Thames Ditton |
| city : Surrey |
| postalCode : KT7 0PY |
| generalPractitioner |
| identifier |
| system : https://fhir.hl7.org.uk/Id/gmp-number |
| value : G9999999 |
| display : Dr. Aero Smith |
| generalPractitioner |
| identifier |
| system : https://fhir.hl7.org.uk/Id/ODS-code |
| value : TP123 |
| display : 123 Test Practice |
| link |
| other |
| reference : https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307559 |
| type : seealso |
| request |
| method : POST |
| url : Patient |
| ifNoneExist : Patient?identifier=https://fhir.nhs.uk/Id/nhs-number|9449307559 |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-GenomicEthnicity-Example |
| resource |
| id : Observation-GenomicEthnicity-Example |
| status : preliminary |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 723621000000103 |
| display : Ethnicity |
| subject |
| reference : Patient/Patient-DemeizaSeo-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307559 |
| value : unknown |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-ReAnalysis-Example |
| resource |
| id : ServiceRequest-NonWGSTestOrderForm-ReAnalysis-Example |
| basedOn |
| reference : ServiceRequest/ServiceRequest-NonWGSTestOrderForm-SyndromicEpilepsy-Example |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
| code : nhs |
| display : NHS |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : rare-disease-non-wgs |
| priority : routine |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R387 |
| display : Re-analysis |
| orderDetail |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R59 |
| display : Early onset or syndromic epilepsy |
| subject |
| reference : Patient/Patient-DemeizaSeo-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449306559 |
| authoredOn : 2023-09-06T09:00:00Z |
| requester |
| reference : PractitionerRole/PractitionerRole-HazelSmithRenal-Example |
| reasonCode |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : 719641000000101 |
| display : Data analysis (qualifier value) |
| text : Significant new treatment and or clinical management implication for the patient.Please provide details/treatment for management of epilepsy |
| supportingInfo |
| reference : Observation/Observation-GenomicEthnicity-Example |
| supportingInfo |
| reference : Observation/Observation-DiseaseStatus-Example |
| supportingInfo |
| reference : Observation/Observation-NoPregnancy-Example |
| supportingInfo |
| reference : Observation/Observation-NonConsanguinousUnion-Example |
| supportingInfo |
| reference : FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example |
| supportingInfo |
| reference : Observation/Observation-NoBoneMarrowTransplant-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransfusion-Example |
| specimen |
| display : No Sample Required |
| note |
| text : No family history of genomic testing |
| note |
| text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/E.g. Reanlaysis - change in observed phenotype. Epilepsy test previously ordered on patient 5 years ago. |
| request |
| method : POST |
| url : ServiceRequest |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-NoPregnancy-Example |
| resource |
| id : Observation-NoPregnancy-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 77386006 |
| display : Pregnancy |
| subject |
| reference : Patient/Patient-DemeizaSeo-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307559 |
| effective : 2023-09-06 |
| value : False |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-DiseaseStatus-Example |
| resource |
| id : Observation-DiseaseStatus-Example |
| status : final |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R67.2 |
| display : Monogenic hearing loss |
| subject |
| reference : Patient/Patient-DemeizaSeo-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307559 |
| effective : 2023-09-06 |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 103310001 |
| display : Patient not affected |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example |
| resource |
| id : FamilyMemberHistory-NonConsanguinousUnion-Example |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation |
| value |
| reference : Observation/Observation-NonConsanguinousUnion-Example |
| status : completed |
| patient |
| reference : Patient/Patient-DemeizaSeo-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307559 |
| relationship |
| coding |
| system : http://terminology.hl7.org/CodeSystem/v3-RoleCode |
| code : PRN |
| display : parent |
| request |
| method : POST |
| url : FamilyMemberHistory |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-NonConsanguinousUnion-Example |
| resource |
| id : Observation-NonConsanguinousUnion-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 842009 |
| display : Consanguinity |
| subject |
| reference : Patient/Patient-DemeizaSeo-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307559 |
| effective : 2023-09-06 |
| value : False |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-NoBoneMarrowTransplant-Example |
| resource |
| id : Observation-NoBoneMarrowTransplant-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 23719005 |
| display : Transplantation of bone marrow |
| subject |
| reference : Patient/Patient-DemeizaSeo-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307559 |
| effective : 2023-08-05 |
| value : False |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-NoTransfusion-Example |
| resource |
| id : Observation-NoTransfusion-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 5447007 |
| display : Transfusion |
| subject |
| reference : Patient/Patient-DemeizaSeo-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307559 |
| effective : 2023-09-06 |
| value : False |
| request |
| method : POST |
| url : Observation |
{ "resourceType": "Bundle", "id": "Bundle-NonWGSTestOrderForm-Reanalysis-Example", "type": "transaction", "entry": [ { "fullUrl": "http://example.org/fhir/PractitionerRole/PractitionerRole-HazelSmithRenal-Example", "resource": { "resourceType": "PractitionerRole", "id": "PractitionerRole-HazelSmithRenal-Example", "practitioner": { "identifier": { "system": "https://fhir.nhs.uk/Id/sds-user-id", "value": "9999999998" }, "display": "Dr. Hazel Smith" }, "organization": { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RAX01" }, "display": "Kingston Hospital NHS Foundation Trust" }, "specialty": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode", "code": "361", "display": "Renal Medicine" } ] } ], "telecom": [ { "system": "phone", "value": "02085467711" }, { "system": "email", "value": "Hazel.smith12@nhs.net" }, { "system": "email", "value": "renalseckingston@nhs.net", "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/contactpoint-comment", "valueString": "reporting" } ] }, { "system": "email", "value": "neuroseckingston@nhs.net", "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/contactpoint-comment", "valueString": "reporting" } ] } ] }, "request": { "method": "POST", "url": "PractitionerRole" } }, { "fullUrl": "http://example.org/fhir/Patient/Patient-DemeizaSeo-Example", "resource": { "resourceType": "Patient", "id": "Patient-DemeizaSeo-Example", "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex", "valueCodeableConcept": { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender", "code": "F", "display": "Female" } ] } }, { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-EthnicCategory", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-EthnicCategoryEngland", "code": "R", "display": "Other Ethnic Groups - Chinese" } ] } } ], "identifier": [ { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449306559", "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland", "version": "2.2.0", "code": "01", "display": "Number present and verified" } ] } } ] }, { "system": "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", "value": "RWT16378", "assigner": { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RAX" } } } ], "name": [ { "given": [ "Demeiza" ], "family": "Seo" } ], "gender": "female", "birthDate": "2011-01-26", "deceasedBoolean": false, "address": [ { "line": [ "1 Aragon Avenue,", "Thames Ditton" ], "city": "Surrey", "postalCode": "KT7 0PY" } ], "generalPractitioner": [ { "identifier": { "system": "https://fhir.hl7.org.uk/Id/gmp-number", "value": "G9999999" }, "display": "Dr. Aero Smith" }, { "identifier": { "system": "https://fhir.hl7.org.uk/Id/ODS-code", "value": "TP123" }, "display": "123 Test Practice" } ], "link": [ { "other": { "reference": "https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307559" }, "type": "seealso" } ] }, "request": { "method": "POST", "url": "Patient", "ifNoneExist": "Patient?identifier=https://fhir.nhs.uk/Id/nhs-number|9449307559" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-GenomicEthnicity-Example", "resource": { "resourceType": "Observation", "id": "Observation-GenomicEthnicity-Example", "status": "preliminary", "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "723621000000103", "display": "Ethnicity" } ] }, "subject": { "reference": "Patient/Patient-DemeizaSeo-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307559" } }, "valueString": "unknown" }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-ReAnalysis-Example", "resource": { "resourceType": "ServiceRequest", "id": "ServiceRequest-NonWGSTestOrderForm-ReAnalysis-Example", "basedOn": [ { "reference": "ServiceRequest/ServiceRequest-NonWGSTestOrderForm-SyndromicEpilepsy-Example" } ], "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } } ], "status": "active", "intent": "order", "category": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", "code": "rare-disease-non-wgs" } ] } ], "priority": "routine", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "R387", "display": "Re-analysis" } ] }, "orderDetail": [ { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "R59", "display": "Early onset or syndromic epilepsy" } ] } ], "subject": { "reference": "Patient/Patient-DemeizaSeo-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449306559" } }, "authoredOn": "2023-09-06T09:00:00Z", "requester": { "reference": "PractitionerRole/PractitionerRole-HazelSmithRenal-Example" }, "reasonCode": [ { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "719641000000101", "display": "Data analysis (qualifier value)" } ], "text": "Significant new treatment and or clinical management implication for the patient.Please provide details/treatment for management of epilepsy" } ], "supportingInfo": [ { "reference": "Observation/Observation-GenomicEthnicity-Example" }, { "reference": "Observation/Observation-DiseaseStatus-Example" }, { "reference": "Observation/Observation-NoPregnancy-Example" }, { "reference": "Observation/Observation-NonConsanguinousUnion-Example" }, { "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" }, { "reference": "Observation/Observation-NoBoneMarrowTransplant-Example" }, { "reference": "Observation/Observation-NoTransfusion-Example" } ], "specimen": [ { "display": "No Sample Required" } ], "note": [ { "text": "No family history of genomic testing" }, { "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/E.g. Reanlaysis - change in observed phenotype. Epilepsy test previously ordered on patient 5 years ago. " } ] }, "request": { "method": "POST", "url": "ServiceRequest" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-NoPregnancy-Example", "resource": { "resourceType": "Observation", "id": "Observation-NoPregnancy-Example", "status": "final", "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "77386006", "display": "Pregnancy" } ] }, "subject": { "reference": "Patient/Patient-DemeizaSeo-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307559" } }, "effectiveDateTime": "2023-09-06", "valueBoolean": false }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-DiseaseStatus-Example", "resource": { "resourceType": "Observation", "id": "Observation-DiseaseStatus-Example", "status": "final", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "R67.2", "display": "Monogenic hearing loss" } ] }, "subject": { "reference": "Patient/Patient-DemeizaSeo-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307559" } }, "effectiveDateTime": "2023-09-06", "valueCodeableConcept": { "coding": [ { "system": "http://snomed.info/sct", "code": "103310001", "display": "Patient not affected" } ] } }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example", "resource": { "resourceType": "FamilyMemberHistory", "id": "FamilyMemberHistory-NonConsanguinousUnion-Example", "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation", "valueReference": { "reference": "Observation/Observation-NonConsanguinousUnion-Example" } } ], "status": "completed", "patient": { "reference": "Patient/Patient-DemeizaSeo-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307559" } }, "relationship": { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/v3-RoleCode", "code": "PRN", "display": "parent" } ] } }, "request": { "method": "POST", "url": "FamilyMemberHistory" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-NonConsanguinousUnion-Example", "resource": { "resourceType": "Observation", "id": "Observation-NonConsanguinousUnion-Example", "status": "final", "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "842009", "display": "Consanguinity" } ] }, "subject": { "reference": "Patient/Patient-DemeizaSeo-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307559" } }, "effectiveDateTime": "2023-09-06", "valueBoolean": false }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-NoBoneMarrowTransplant-Example", "resource": { "resourceType": "Observation", "id": "Observation-NoBoneMarrowTransplant-Example", "status": "final", "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "23719005", "display": "Transplantation of bone marrow" } ] }, "subject": { "reference": "Patient/Patient-DemeizaSeo-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307559" } }, "effectiveDateTime": "2023-08-05", "valueBoolean": false }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-NoTransfusion-Example", "resource": { "resourceType": "Observation", "id": "Observation-NoTransfusion-Example", "status": "final", "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "5447007", "display": "Transfusion" } ] }, "subject": { "reference": "Patient/Patient-DemeizaSeo-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307559" } }, "effectiveDateTime": "2023-09-06", "valueBoolean": false }, "request": { "method": "POST", "url": "Observation" } } ] }
<Bundle xmlns="http://hl7.org/fhir"> <id value="Bundle-NonWGSTestOrderForm-Reanalysis-Example" /> <type value="transaction" /> <entry> <fullUrl value="http://example.org/fhir/PractitionerRole/PractitionerRole-HazelSmithRenal-Example" /> <resource> <PractitionerRole> <id value="PractitionerRole-HazelSmithRenal-Example" /> <practitioner> <identifier> <system value="https://fhir.nhs.uk/Id/sds-user-id" /> <value value="9999999998" /> </identifier> <display value="Dr. Hazel Smith" /> </practitioner> <organization> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX01" /> </identifier> <display value="Kingston Hospital NHS Foundation Trust" /> </organization> <specialty> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode" /> <code value="361" /> <display value="Renal Medicine" /> </coding> </specialty> <telecom> <system value="phone" /> <value value="02085467711" /> </telecom> <telecom> <system value="email" /> <value value="Hazel.smith12@nhs.net" /> </telecom> <telecom> <extension url="http://hl7.org/fhir/StructureDefinition/contactpoint-comment"> <valueString value="reporting" /> </extension> <system value="email" /> <value value="renalseckingston@nhs.net" /> </telecom> <telecom> <extension url="http://hl7.org/fhir/StructureDefinition/contactpoint-comment"> <valueString value="reporting" /> </extension> <system value="email" /> <value value="neuroseckingston@nhs.net" /> </telecom> </PractitionerRole> </resource> <request> <method value="POST" /> <url value="PractitionerRole" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Patient/Patient-DemeizaSeo-Example" /> <resource> <Patient> <id value="Patient-DemeizaSeo-Example" /> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex"> <valueCodeableConcept> <coding> <system value="http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender" /> <code value="F" /> <display value="Female" /> </coding> </valueCodeableConcept> </extension> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-EthnicCategory"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-EthnicCategoryEngland" /> <code value="R" /> <display value="Other Ethnic Groups - Chinese" /> </coding> </valueCodeableConcept> </extension> <identifier> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland" /> <version value="2.2.0" /> <code value="01" /> <display value="Number present and verified" /> </coding> </valueCodeableConcept> </extension> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449306559" /> </identifier> <identifier> <system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" /> <value value="RWT16378" /> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX" /> </identifier> </assigner> </identifier> <name> <family value="Seo" /> <given value="Demeiza" /> </name> <gender value="female" /> <birthDate value="2011-01-26" /> <deceasedBoolean value="false" /> <address> <line value="1 Aragon Avenue," /> <line value="Thames Ditton" /> <city value="Surrey" /> <postalCode value="KT7 0PY" /> </address> <generalPractitioner> <identifier> <system value="https://fhir.hl7.org.uk/Id/gmp-number" /> <value value="G9999999" /> </identifier> <display value="Dr. Aero Smith" /> </generalPractitioner> <generalPractitioner> <identifier> <system value="https://fhir.hl7.org.uk/Id/ODS-code" /> <value value="TP123" /> </identifier> <display value="123 Test Practice" /> </generalPractitioner> <link> <other> <reference value="https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307559" /> </other> <type value="seealso" /> </link> </Patient> </resource> <request> <method value="POST" /> <url value="Patient" /> <ifNoneExist value="Patient?identifier=https://fhir.nhs.uk/Id/nhs-number|9449307559" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-GenomicEthnicity-Example" /> <resource> <Observation> <id value="Observation-GenomicEthnicity-Example" /> <status value="preliminary" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="723621000000103" /> <display value="Ethnicity" /> </coding> </code> <subject> <reference value="Patient/Patient-DemeizaSeo-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307559" /> </identifier> </subject> <valueString value="unknown" /> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-ReAnalysis-Example" /> <resource> <ServiceRequest> <id value="ServiceRequest-NonWGSTestOrderForm-ReAnalysis-Example" /> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <basedOn> <reference value="ServiceRequest/ServiceRequest-NonWGSTestOrderForm-SyndromicEpilepsy-Example" /> </basedOn> <status value="active" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="rare-disease-non-wgs" /> </coding> </category> <priority value="routine" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R387" /> <display value="Re-analysis" /> </coding> </code> <orderDetail> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R59" /> <display value="Early onset or syndromic epilepsy" /> </coding> </orderDetail> <subject> <reference value="Patient/Patient-DemeizaSeo-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449306559" /> </identifier> </subject> <authoredOn value="2023-09-06T09:00:00Z" /> <requester> <reference value="PractitionerRole/PractitionerRole-HazelSmithRenal-Example" /> </requester> <reasonCode> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="719641000000101" /> <display value="Data analysis (qualifier value)" /> </coding> <text value="Significant new treatment and or clinical management implication for the patient.Please provide details/treatment for management of epilepsy" /> </reasonCode> <supportingInfo> <reference value="Observation/Observation-GenomicEthnicity-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-DiseaseStatus-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoPregnancy-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoBoneMarrowTransplant-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransfusion-Example" /> </supportingInfo> <specimen> <display value="No Sample Required" /> </specimen> <note> <text value="No family history of genomic testing" /> </note> <note> <text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/E.g. Reanlaysis - change in observed phenotype. Epilepsy test previously ordered on patient 5 years ago." /> </note> </ServiceRequest> </resource> <request> <method value="POST" /> <url value="ServiceRequest" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-NoPregnancy-Example" /> <resource> <Observation> <id value="Observation-NoPregnancy-Example" /> <status value="final" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="77386006" /> <display value="Pregnancy" /> </coding> </code> <subject> <reference value="Patient/Patient-DemeizaSeo-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307559" /> </identifier> </subject> <effectiveDateTime value="2023-09-06" /> <valueBoolean value="false" /> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-DiseaseStatus-Example" /> <resource> <Observation> <id value="Observation-DiseaseStatus-Example" /> <status value="final" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R67.2" /> <display value="Monogenic hearing loss" /> </coding> </code> <subject> <reference value="Patient/Patient-DemeizaSeo-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307559" /> </identifier> </subject> <effectiveDateTime value="2023-09-06" /> <valueCodeableConcept> <coding> <system value="http://snomed.info/sct" /> <code value="103310001" /> <display value="Patient not affected" /> </coding> </valueCodeableConcept> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" /> <resource> <FamilyMemberHistory> <id value="FamilyMemberHistory-NonConsanguinousUnion-Example" /> <extension url="http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation"> <valueReference> <reference value="Observation/Observation-NonConsanguinousUnion-Example" /> </valueReference> </extension> <status value="completed" /> <patient> <reference value="Patient/Patient-DemeizaSeo-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307559" /> </identifier> </patient> <relationship> <coding> <system value="http://terminology.hl7.org/CodeSystem/v3-RoleCode" /> <code value="PRN" /> <display value="parent" /> </coding> </relationship> </FamilyMemberHistory> </resource> <request> <method value="POST" /> <url value="FamilyMemberHistory" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-NonConsanguinousUnion-Example" /> <resource> <Observation> <id value="Observation-NonConsanguinousUnion-Example" /> <status value="final" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="842009" /> <display value="Consanguinity" /> </coding> </code> <subject> <reference value="Patient/Patient-DemeizaSeo-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307559" /> </identifier> </subject> <effectiveDateTime value="2023-09-06" /> <valueBoolean value="false" /> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-NoBoneMarrowTransplant-Example" /> <resource> <Observation> <id value="Observation-NoBoneMarrowTransplant-Example" /> <status value="final" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="23719005" /> <display value="Transplantation of bone marrow" /> </coding> </code> <subject> <reference value="Patient/Patient-DemeizaSeo-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307559" /> </identifier> </subject> <effectiveDateTime value="2023-08-05" /> <valueBoolean value="false" /> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-NoTransfusion-Example" /> <resource> <Observation> <id value="Observation-NoTransfusion-Example" /> <status value="final" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="5447007" /> <display value="Transfusion" /> </coding> </code> <subject> <reference value="Patient/Patient-DemeizaSeo-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307559" /> </identifier> </subject> <effectiveDateTime value="2023-09-06" /> <valueBoolean value="false" /> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> </Bundle>
Bundle-WGSTestOrderForm-Example
Example of a WGS test request sent to the central broker, as described in the Clinical Scenario: WGS Test Request - Rare Disease.
| Bundle |
| id : Bundle-WGSTestOrderForm-Example |
| type : transaction |
| entry |
| fullUrl : http://example.org/fhir/PractitionerRole/PractitionerRole-HazelSmithRenal-Example |
| resource |
| id : PractitionerRole-HazelSmithRenal-Example |
| practitioner |
| identifier |
| system : https://fhir.nhs.uk/Id/sds-user-id |
| value : 9999999998 |
| display : Dr. Hazel Smith |
| organization |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX01 |
| display : Kingston Hospital NHS Foundation Trust |
| specialty |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode |
| code : 361 |
| display : Renal Medicine |
| telecom |
| system : phone |
| value : 02085467711 |
| telecom |
| system : email |
| value : Hazel.smith12@nhs.net |
| telecom |
| system : email |
| value : renalseckingston@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| request |
| method : POST |
| url : PractitionerRole |
| entry |
| fullUrl : http://example.org/fhir/Patient/Patient-LindsaySorrell-Example |
| resource |
| id : Patient-LindsaySorrell-Example |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex |
| value |
| coding |
| system : http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender |
| code : M |
| display : Male |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-EthnicCategory |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-EthnicCategoryEngland |
| code : A |
| display : White - British |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland |
| version : 2.2.0 |
| code : 01 |
| display : Number present and verified |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : RWT14789 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX01 |
| name |
| given : Lindsay |
| family : Sorrell |
| gender : male |
| birthDate : 2011-04-12 |
| deceased : False |
| address |
| line : 31 THE AVENUE |
| line : BERWICK COURT |
| postalCode : KT4 7BS |
| generalPractitioner |
| identifier |
| system : https://fhir.hl7.org.uk/Id/gmp-number |
| value : G9999999 |
| display : Dr. Aero Smith |
| generalPractitioner |
| identifier |
| system : https://fhir.hl7.org.uk/Id/ODS-code |
| value : AP123 |
| display : anywhere place |
| link |
| other |
| reference : https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307946 |
| type : seealso |
| request |
| method : POST |
| url : Patient |
| ifNoneExist : Patient?identifier=https://fhir.nhs.uk/Id/nhs-number|9449307946 |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-GenomicEthnicity-Example |
| resource |
| id : Observation-GenomicEthnicity-Example |
| status : preliminary |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 723621000000103 |
| display : Ethnicity |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| value : unknown |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/ServiceRequest/ServiceRequest-WGSTestOrderForm-Example |
| resource |
| id : ServiceRequest-WGSTestOrderForm-Example |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
| code : nhs |
| display : NHS |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : rare-disease-wgs |
| display : Rare Disease - WGS |
| priority : routine |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R193.4 |
| display : Cystic renal disease |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| authoredOn : 2023-08-08 |
| requester |
| reference : PractitionerRole/PractitionerRole-HazelSmithRenal-Example |
| reasonCode |
| coding |
| system : http://snomed.info/sct |
| code : 103693007 |
| display : Diagnostic procedure |
| supportingInfo |
| reference : Observation/Observation-DiseaseStatus-Example |
| supportingInfo |
| reference : Observation/Observation-GenomicEthnicity-Example |
| supportingInfo |
| reference : Observation/Observation-NoPregnancy-Example |
| supportingInfo |
| reference : FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example |
| supportingInfo |
| reference : Observation/Observation-NoBoneMarrowTransplant-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransfusion-Example |
| supportingInfo |
| reference : Observation/Observation-MultipleRenalCysts-Example |
| supportingInfo |
| reference : Observation/Observation-Nephronophthisis-Example |
| supportingInfo |
| reference : Observation/Observation-HepaticCysts-Example |
| supportingInfo |
| reference : Observation/Observation-EnlargedKidney-Example |
| supportingInfo |
| reference : Observation/Observation-RenalInsufficiency-Example |
| supportingInfo |
| reference : Consent/Consent-RoDToFollow-Example |
| note |
| text : No family history of genomic testing |
| note |
| text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ Patient diagnoses with ADPKD (example) |
| request |
| method : POST |
| url : ServiceRequest |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-NoPregnancy-Example |
| resource |
| id : Observation-NoPregnancy-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 77386006 |
| display : Pregnancy |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| effective : 2023-08-05 |
| value : False |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-DiseaseStatus-Example |
| resource |
| id : Observation-DiseaseStatus-Example |
| status : final |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R193.4 |
| display : Cystic renal disease |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| effective : 2023-08-05 |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 103310001 |
| display : Patient not affected |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example |
| resource |
| id : FamilyMemberHistory-NonConsanguinousUnion-Example |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation |
| value |
| reference : Observation/Observation-NonConsanguinousUnion-Example |
| status : completed |
| patient |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| relationship |
| coding |
| system : http://terminology.hl7.org/CodeSystem/v3-RoleCode |
| code : PRN |
| display : parent |
| request |
| method : POST |
| url : FamilyMemberHistory |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-NonConsanguinousUnion-Example |
| resource |
| id : Observation-NonConsanguinousUnion-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 842009 |
| display : Consanguinity |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| effective : 2023-08-05 |
| value : False |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-NoBoneMarrowTransplant-Example |
| resource |
| id : Observation-NoBoneMarrowTransplant-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 23719005 |
| display : Transplantation of bone marrow |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| effective : 2023-08-05 |
| value : False |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-NoTransfusion-Example |
| resource |
| id : Observation-NoTransfusion-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 5447007 |
| display : Transfusion |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| effective : 2023-08-05 |
| value : False |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-MultipleRenalCysts-Example |
| resource |
| id : Observation-MultipleRenalCysts-Example |
| status : final |
| code |
| coding |
| system : https://hpo.jax.org/app/ |
| code : HP:0005562 |
| display : Multiple renal cysts |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| effective : 2023-08-05 |
| value : False |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-Nephronophthisis-Example |
| resource |
| id : Observation-Nephronophthisis-Example |
| status : final |
| code |
| coding |
| system : https://hpo.jax.org/app/ |
| code : HP:0000090 |
| display : Nephronophthisis |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| effective : 2023-08-05 |
| value : False |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-HepaticCysts-Example |
| resource |
| id : Observation-HepaticCysts-Example |
| status : final |
| code |
| coding |
| system : https://hpo.jax.org/app/ |
| code : HP:0001407 |
| display : Hepatic cysts |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| effective : 2023-08-05 |
| value : False |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-EnlargedKidney-Example |
| resource |
| id : Observation-EnlargedKidney-Example |
| status : final |
| code |
| coding |
| system : https://hpo.jax.org/app/ |
| code : HP:0000105 |
| display : Enlarged kidney |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| effective : 2023-08-05 |
| value : True |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-RenalInsufficiency-Example |
| resource |
| id : Observation-RenalInsufficiency-Example |
| status : final |
| code |
| coding |
| system : https://hpo.jax.org/app/ |
| code : HP:0000083 |
| display : Renal insufficiency |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| effective : 2023-08-05 |
| value : True |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Specimen/Specimen-BloodEDTA-Example |
| resource |
| id : Specimen-BloodEDTA-Example |
| identifier |
| system : https://fhir.add.nhs.uk/Id/specimenId |
| value : RGT03135 |
| status : unavailable |
| type |
| coding |
| system : http://snomed.info/sct |
| code : 445295009 |
| display : Blood specimen with EDTA |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| request |
| reference : ServiceRequest/ServiceRequest-NonWGSTestOrderForm-Example |
| request |
| method : POST |
| url : Specimen |
| entry |
| fullUrl : http://example.org/fhir/Consent/Consent-RoDToFollow-Example |
| resource |
| id : Consent-RoDToFollow-Example |
| status : proposed |
| scope |
| coding |
| system : http://terminology.hl7.org/CodeSystem/consentscope |
| code : research |
| display : Research |
| category |
| coding |
| system : http://terminology.hl7.org/CodeSystem/consentcategorycodes |
| code : research |
| display : Research Information Access |
| policy |
| authority : https://www.england.nhs.uk |
| uri : https://www.england.nhs.uk/publication/nhs-genomic-medicine-service-record-of-discussion-form |
| request |
| method : POST |
| url : Consent |
{ "resourceType": "Bundle", "id": "Bundle-WGSTestOrderForm-Example", "type": "transaction", "entry": [ { "fullUrl": "http://example.org/fhir/PractitionerRole/PractitionerRole-HazelSmithRenal-Example", "resource": { "resourceType": "PractitionerRole", "id": "PractitionerRole-HazelSmithRenal-Example", "practitioner": { "identifier": { "system": "https://fhir.nhs.uk/Id/sds-user-id", "value": "9999999998" }, "display": "Dr. Hazel Smith" }, "organization": { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RAX01" }, "display": "Kingston Hospital NHS Foundation Trust" }, "specialty": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode", "code": "361", "display": "Renal Medicine" } ] } ], "telecom": [ { "system": "phone", "value": "02085467711" }, { "system": "email", "value": "Hazel.smith12@nhs.net" }, { "system": "email", "value": "renalseckingston@nhs.net", "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/contactpoint-comment", "valueString": "reporting" } ] } ] }, "request": { "method": "POST", "url": "PractitionerRole" } }, { "fullUrl": "http://example.org/fhir/Patient/Patient-LindsaySorrell-Example", "resource": { "resourceType": "Patient", "id": "Patient-LindsaySorrell-Example", "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex", "valueCodeableConcept": { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender", "code": "M", "display": "Male" } ] } }, { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-EthnicCategory", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-EthnicCategoryEngland", "code": "A", "display": "White - British" } ] } } ], "identifier": [ { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307946", "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland", "version": "2.2.0", "code": "01", "display": "Number present and verified" } ] } } ] }, { "system": "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", "value": "RWT14789", "assigner": { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RAX01" } } } ], "name": [ { "given": [ "Lindsay" ], "family": "Sorrell" } ], "gender": "male", "birthDate": "2011-04-12", "deceasedBoolean": false, "address": [ { "line": [ "31 THE AVENUE", "BERWICK COURT" ], "postalCode": "KT4 7BS" } ], "generalPractitioner": [ { "identifier": { "system": "https://fhir.hl7.org.uk/Id/gmp-number", "value": "G9999999" }, "display": "Dr. Aero Smith" }, { "identifier": { "system": "https://fhir.hl7.org.uk/Id/ODS-code", "value": "AP123" }, "display": "anywhere place" } ], "link": [ { "other": { "reference": "https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307946" }, "type": "seealso" } ] }, "request": { "method": "POST", "url": "Patient", "ifNoneExist": "Patient?identifier=https://fhir.nhs.uk/Id/nhs-number|9449307946" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-GenomicEthnicity-Example", "resource": { "resourceType": "Observation", "id": "Observation-GenomicEthnicity-Example", "status": "preliminary", "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "723621000000103", "display": "Ethnicity" } ] }, "subject": { "reference": "Patient/Patient-LindsaySorrell-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307946" } }, "valueString": "unknown" }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/ServiceRequest/ServiceRequest-WGSTestOrderForm-Example", "resource": { "resourceType": "ServiceRequest", "id": "ServiceRequest-WGSTestOrderForm-Example", "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } } ], "status": "active", "intent": "order", "category": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", "code": "rare-disease-wgs", "display": "Rare Disease - WGS" } ] } ], "priority": "routine", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "R193.4", "display": "Cystic renal disease" } ] }, "subject": { "reference": "Patient/Patient-LindsaySorrell-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307946" } }, "authoredOn": "2023-08-08", "requester": { "reference": "PractitionerRole/PractitionerRole-HazelSmithRenal-Example" }, "reasonCode": [ { "coding": [ { "system": "http://snomed.info/sct", "code": "103693007", "display": "Diagnostic procedure" } ] } ], "supportingInfo": [ { "reference": "Observation/Observation-DiseaseStatus-Example" }, { "reference": "Observation/Observation-GenomicEthnicity-Example" }, { "reference": "Observation/Observation-NoPregnancy-Example" }, { "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" }, { "reference": "Observation/Observation-NoBoneMarrowTransplant-Example" }, { "reference": "Observation/Observation-NoTransfusion-Example" }, { "reference": "Observation/Observation-MultipleRenalCysts-Example" }, { "reference": "Observation/Observation-Nephronophthisis-Example" }, { "reference": "Observation/Observation-HepaticCysts-Example" }, { "reference": "Observation/Observation-EnlargedKidney-Example" }, { "reference": "Observation/Observation-RenalInsufficiency-Example" }, { "reference": "Consent/Consent-RoDToFollow-Example" } ], "note": [ { "text": "No family history of genomic testing" }, { "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ Patient diagnoses with ADPKD (example)" } ] }, "request": { "method": "POST", "url": "ServiceRequest" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-NoPregnancy-Example", "resource": { "resourceType": "Observation", "id": "Observation-NoPregnancy-Example", "status": "final", "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "77386006", "display": "Pregnancy" } ] }, "subject": { "reference": "Patient/Patient-LindsaySorrell-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307946" } }, "effectiveDateTime": "2023-08-05", "valueBoolean": false }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-DiseaseStatus-Example", "resource": { "resourceType": "Observation", "id": "Observation-DiseaseStatus-Example", "status": "final", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "R193.4", "display": "Cystic renal disease" } ] }, "subject": { "reference": "Patient/Patient-LindsaySorrell-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307946" } }, "effectiveDateTime": "2023-08-05", "valueCodeableConcept": { "coding": [ { "system": "http://snomed.info/sct", "code": "103310001", "display": "Patient not affected" } ] } }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example", "resource": { "resourceType": "FamilyMemberHistory", "id": "FamilyMemberHistory-NonConsanguinousUnion-Example", "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation", "valueReference": { "reference": "Observation/Observation-NonConsanguinousUnion-Example" } } ], "status": "completed", "patient": { "reference": "Patient/Patient-LindsaySorrell-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307946" } }, "relationship": { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/v3-RoleCode", "code": "PRN", "display": "parent" } ] } }, "request": { "method": "POST", "url": "FamilyMemberHistory" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-NonConsanguinousUnion-Example", "resource": { "resourceType": "Observation", "id": "Observation-NonConsanguinousUnion-Example", "status": "final", "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "842009", "display": "Consanguinity" } ] }, "subject": { "reference": "Patient/Patient-LindsaySorrell-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307946" } }, "effectiveDateTime": "2023-08-05", "valueBoolean": false }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-NoBoneMarrowTransplant-Example", "resource": { "resourceType": "Observation", "id": "Observation-NoBoneMarrowTransplant-Example", "status": "final", "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "23719005", "display": "Transplantation of bone marrow" } ] }, "subject": { "reference": "Patient/Patient-LindsaySorrell-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307946" } }, "effectiveDateTime": "2023-08-05", "valueBoolean": false }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-NoTransfusion-Example", "resource": { "resourceType": "Observation", "id": "Observation-NoTransfusion-Example", "status": "final", "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "5447007", "display": "Transfusion" } ] }, "subject": { "reference": "Patient/Patient-LindsaySorrell-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307946" } }, "effectiveDateTime": "2023-08-05", "valueBoolean": false }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-MultipleRenalCysts-Example", "resource": { "resourceType": "Observation", "id": "Observation-MultipleRenalCysts-Example", "status": "final", "code": { "coding": [ { "system": "https://hpo.jax.org/app/", "code": "HP:0005562", "display": "Multiple renal cysts" } ] }, "subject": { "reference": "Patient/Patient-LindsaySorrell-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307946" } }, "effectiveDateTime": "2023-08-05", "valueBoolean": false }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-Nephronophthisis-Example", "resource": { "resourceType": "Observation", "id": "Observation-Nephronophthisis-Example", "status": "final", "code": { "coding": [ { "system": "https://hpo.jax.org/app/", "code": "HP:0000090", "display": "Nephronophthisis" } ] }, "subject": { "reference": "Patient/Patient-LindsaySorrell-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307946" } }, "effectiveDateTime": "2023-08-05", "valueBoolean": false }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-HepaticCysts-Example", "resource": { "resourceType": "Observation", "id": "Observation-HepaticCysts-Example", "status": "final", "code": { "coding": [ { "system": "https://hpo.jax.org/app/", "code": "HP:0001407", "display": "Hepatic cysts" } ] }, "subject": { "reference": "Patient/Patient-LindsaySorrell-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307946" } }, "effectiveDateTime": "2023-08-05", "valueBoolean": false }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-EnlargedKidney-Example", "resource": { "resourceType": "Observation", "id": "Observation-EnlargedKidney-Example", "status": "final", "code": { "coding": [ { "system": "https://hpo.jax.org/app/", "code": "HP:0000105", "display": "Enlarged kidney" } ] }, "subject": { "reference": "Patient/Patient-LindsaySorrell-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307946" } }, "effectiveDateTime": "2023-08-05", "valueBoolean": true }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-RenalInsufficiency-Example", "resource": { "resourceType": "Observation", "id": "Observation-RenalInsufficiency-Example", "status": "final", "code": { "coding": [ { "system": "https://hpo.jax.org/app/", "code": "HP:0000083", "display": "Renal insufficiency" } ] }, "subject": { "reference": "Patient/Patient-LindsaySorrell-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307946" } }, "effectiveDateTime": "2023-08-05", "valueBoolean": true }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/Specimen/Specimen-BloodEDTA-Example", "resource": { "resourceType": "Specimen", "id": "Specimen-BloodEDTA-Example", "identifier": [ { "system": "https://fhir.add.nhs.uk/Id/specimenId", "value": "RGT03135" } ], "status": "unavailable", "type": { "coding": [ { "system": "http://snomed.info/sct", "code": "445295009", "display": "Blood specimen with EDTA" } ] }, "subject": { "reference": "Patient/Patient-LindsaySorrell-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307946" } }, "request": [ { "reference": "ServiceRequest/ServiceRequest-NonWGSTestOrderForm-Example" } ] }, "request": { "method": "POST", "url": "Specimen" } }, { "fullUrl": "http://example.org/fhir/Consent/Consent-RoDToFollow-Example", "resource": { "resourceType": "Consent", "id": "Consent-RoDToFollow-Example", "status": "proposed", "scope": { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/consentscope", "code": "research", "display": "Research" } ] }, "category": [ { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/consentcategorycodes", "code": "research", "display": "Research Information Access" } ] } ], "policy": [ { "authority": "https://www.england.nhs.uk", "uri": "https://www.england.nhs.uk/publication/nhs-genomic-medicine-service-record-of-discussion-form" } ] }, "request": { "method": "POST", "url": "Consent" } } ] }
<Bundle xmlns="http://hl7.org/fhir"> <id value="Bundle-WGSTestOrderForm-Example" /> <type value="transaction" /> <entry> <fullUrl value="http://example.org/fhir/PractitionerRole/PractitionerRole-HazelSmithRenal-Example" /> <resource> <PractitionerRole> <id value="PractitionerRole-HazelSmithRenal-Example" /> <practitioner> <identifier> <system value="https://fhir.nhs.uk/Id/sds-user-id" /> <value value="9999999998" /> </identifier> <display value="Dr. Hazel Smith" /> </practitioner> <organization> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX01" /> </identifier> <display value="Kingston Hospital NHS Foundation Trust" /> </organization> <specialty> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode" /> <code value="361" /> <display value="Renal Medicine" /> </coding> </specialty> <telecom> <system value="phone" /> <value value="02085467711" /> </telecom> <telecom> <system value="email" /> <value value="Hazel.smith12@nhs.net" /> </telecom> <telecom> <extension url="http://hl7.org/fhir/StructureDefinition/contactpoint-comment"> <valueString value="reporting" /> </extension> <system value="email" /> <value value="renalseckingston@nhs.net" /> </telecom> </PractitionerRole> </resource> <request> <method value="POST" /> <url value="PractitionerRole" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Patient/Patient-LindsaySorrell-Example" /> <resource> <Patient> <id value="Patient-LindsaySorrell-Example" /> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex"> <valueCodeableConcept> <coding> <system value="http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender" /> <code value="M" /> <display value="Male" /> </coding> </valueCodeableConcept> </extension> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-EthnicCategory"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-EthnicCategoryEngland" /> <code value="A" /> <display value="White - British" /> </coding> </valueCodeableConcept> </extension> <identifier> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland" /> <version value="2.2.0" /> <code value="01" /> <display value="Number present and verified" /> </coding> </valueCodeableConcept> </extension> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307946" /> </identifier> <identifier> <system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" /> <value value="RWT14789" /> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX01" /> </identifier> </assigner> </identifier> <name> <family value="Sorrell" /> <given value="Lindsay" /> </name> <gender value="male" /> <birthDate value="2011-04-12" /> <deceasedBoolean value="false" /> <address> <line value="31 THE AVENUE" /> <line value="BERWICK COURT" /> <postalCode value="KT4 7BS" /> </address> <generalPractitioner> <identifier> <system value="https://fhir.hl7.org.uk/Id/gmp-number" /> <value value="G9999999" /> </identifier> <display value="Dr. Aero Smith" /> </generalPractitioner> <generalPractitioner> <identifier> <system value="https://fhir.hl7.org.uk/Id/ODS-code" /> <value value="AP123" /> </identifier> <display value="anywhere place" /> </generalPractitioner> <link> <other> <reference value="https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307946" /> </other> <type value="seealso" /> </link> </Patient> </resource> <request> <method value="POST" /> <url value="Patient" /> <ifNoneExist value="Patient?identifier=https://fhir.nhs.uk/Id/nhs-number|9449307946" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-GenomicEthnicity-Example" /> <resource> <Observation> <id value="Observation-GenomicEthnicity-Example" /> <status value="preliminary" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="723621000000103" /> <display value="Ethnicity" /> </coding> </code> <subject> <reference value="Patient/Patient-LindsaySorrell-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307946" /> </identifier> </subject> <valueString value="unknown" /> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/ServiceRequest/ServiceRequest-WGSTestOrderForm-Example" /> <resource> <ServiceRequest> <id value="ServiceRequest-WGSTestOrderForm-Example" /> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <status value="active" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="rare-disease-wgs" /> <display value="Rare Disease - WGS" /> </coding> </category> <priority value="routine" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R193.4" /> <display value="Cystic renal disease" /> </coding> </code> <subject> <reference value="Patient/Patient-LindsaySorrell-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307946" /> </identifier> </subject> <authoredOn value="2023-08-08" /> <requester> <reference value="PractitionerRole/PractitionerRole-HazelSmithRenal-Example" /> </requester> <reasonCode> <coding> <system value="http://snomed.info/sct" /> <code value="103693007" /> <display value="Diagnostic procedure" /> </coding> </reasonCode> <supportingInfo> <reference value="Observation/Observation-DiseaseStatus-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-GenomicEthnicity-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoPregnancy-Example" /> </supportingInfo> <supportingInfo> <reference value="FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoBoneMarrowTransplant-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransfusion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-MultipleRenalCysts-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-Nephronophthisis-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-HepaticCysts-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-EnlargedKidney-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-RenalInsufficiency-Example" /> </supportingInfo> <supportingInfo> <reference value="Consent/Consent-RoDToFollow-Example" /> </supportingInfo> <note> <text value="No family history of genomic testing" /> </note> <note> <text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ Patient diagnoses with ADPKD (example)" /> </note> </ServiceRequest> </resource> <request> <method value="POST" /> <url value="ServiceRequest" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-NoPregnancy-Example" /> <resource> <Observation> <id value="Observation-NoPregnancy-Example" /> <status value="final" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="77386006" /> <display value="Pregnancy" /> </coding> </code> <subject> <reference value="Patient/Patient-LindsaySorrell-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307946" /> </identifier> </subject> <effectiveDateTime value="2023-08-05" /> <valueBoolean value="false" /> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-DiseaseStatus-Example" /> <resource> <Observation> <id value="Observation-DiseaseStatus-Example" /> <status value="final" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R193.4" /> <display value="Cystic renal disease" /> </coding> </code> <subject> <reference value="Patient/Patient-LindsaySorrell-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307946" /> </identifier> </subject> <effectiveDateTime value="2023-08-05" /> <valueCodeableConcept> <coding> <system value="http://snomed.info/sct" /> <code value="103310001" /> <display value="Patient not affected" /> </coding> </valueCodeableConcept> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" /> <resource> <FamilyMemberHistory> <id value="FamilyMemberHistory-NonConsanguinousUnion-Example" /> <extension url="http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation"> <valueReference> <reference value="Observation/Observation-NonConsanguinousUnion-Example" /> </valueReference> </extension> <status value="completed" /> <patient> <reference value="Patient/Patient-LindsaySorrell-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307946" /> </identifier> </patient> <relationship> <coding> <system value="http://terminology.hl7.org/CodeSystem/v3-RoleCode" /> <code value="PRN" /> <display value="parent" /> </coding> </relationship> </FamilyMemberHistory> </resource> <request> <method value="POST" /> <url value="FamilyMemberHistory" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-NonConsanguinousUnion-Example" /> <resource> <Observation> <id value="Observation-NonConsanguinousUnion-Example" /> <status value="final" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="842009" /> <display value="Consanguinity" /> </coding> </code> <subject> <reference value="Patient/Patient-LindsaySorrell-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307946" /> </identifier> </subject> <effectiveDateTime value="2023-08-05" /> <valueBoolean value="false" /> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-NoBoneMarrowTransplant-Example" /> <resource> <Observation> <id value="Observation-NoBoneMarrowTransplant-Example" /> <status value="final" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="23719005" /> <display value="Transplantation of bone marrow" /> </coding> </code> <subject> <reference value="Patient/Patient-LindsaySorrell-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307946" /> </identifier> </subject> <effectiveDateTime value="2023-08-05" /> <valueBoolean value="false" /> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-NoTransfusion-Example" /> <resource> <Observation> <id value="Observation-NoTransfusion-Example" /> <status value="final" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="5447007" /> <display value="Transfusion" /> </coding> </code> <subject> <reference value="Patient/Patient-LindsaySorrell-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307946" /> </identifier> </subject> <effectiveDateTime value="2023-08-05" /> <valueBoolean value="false" /> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-MultipleRenalCysts-Example" /> <resource> <Observation> <id value="Observation-MultipleRenalCysts-Example" /> <status value="final" /> <code> <coding> <system value="https://hpo.jax.org/app/" /> <code value="HP:0005562" /> <display value="Multiple renal cysts" /> </coding> </code> <subject> <reference value="Patient/Patient-LindsaySorrell-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307946" /> </identifier> </subject> <effectiveDateTime value="2023-08-05" /> <valueBoolean value="false" /> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-Nephronophthisis-Example" /> <resource> <Observation> <id value="Observation-Nephronophthisis-Example" /> <status value="final" /> <code> <coding> <system value="https://hpo.jax.org/app/" /> <code value="HP:0000090" /> <display value="Nephronophthisis" /> </coding> </code> <subject> <reference value="Patient/Patient-LindsaySorrell-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307946" /> </identifier> </subject> <effectiveDateTime value="2023-08-05" /> <valueBoolean value="false" /> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-HepaticCysts-Example" /> <resource> <Observation> <id value="Observation-HepaticCysts-Example" /> <status value="final" /> <code> <coding> <system value="https://hpo.jax.org/app/" /> <code value="HP:0001407" /> <display value="Hepatic cysts" /> </coding> </code> <subject> <reference value="Patient/Patient-LindsaySorrell-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307946" /> </identifier> </subject> <effectiveDateTime value="2023-08-05" /> <valueBoolean value="false" /> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-EnlargedKidney-Example" /> <resource> <Observation> <id value="Observation-EnlargedKidney-Example" /> <status value="final" /> <code> <coding> <system value="https://hpo.jax.org/app/" /> <code value="HP:0000105" /> <display value="Enlarged kidney" /> </coding> </code> <subject> <reference value="Patient/Patient-LindsaySorrell-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307946" /> </identifier> </subject> <effectiveDateTime value="2023-08-05" /> <valueBoolean value="true" /> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-RenalInsufficiency-Example" /> <resource> <Observation> <id value="Observation-RenalInsufficiency-Example" /> <status value="final" /> <code> <coding> <system value="https://hpo.jax.org/app/" /> <code value="HP:0000083" /> <display value="Renal insufficiency" /> </coding> </code> <subject> <reference value="Patient/Patient-LindsaySorrell-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307946" /> </identifier> </subject> <effectiveDateTime value="2023-08-05" /> <valueBoolean value="true" /> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Specimen/Specimen-BloodEDTA-Example" /> <resource> <Specimen> <id value="Specimen-BloodEDTA-Example" /> <identifier> <system value="https://fhir.add.nhs.uk/Id/specimenId" /> <value value="RGT03135" /> </identifier> <status value="unavailable" /> <type> <coding> <system value="http://snomed.info/sct" /> <code value="445295009" /> <display value="Blood specimen with EDTA" /> </coding> </type> <subject> <reference value="Patient/Patient-LindsaySorrell-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307946" /> </identifier> </subject> <request> <reference value="ServiceRequest/ServiceRequest-NonWGSTestOrderForm-Example" /> </request> </Specimen> </resource> <request> <method value="POST" /> <url value="Specimen" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Consent/Consent-RoDToFollow-Example" /> <resource> <Consent> <id value="Consent-RoDToFollow-Example" /> <status value="proposed" /> <scope> <coding> <system value="http://terminology.hl7.org/CodeSystem/consentscope" /> <code value="research" /> <display value="Research" /> </coding> </scope> <category> <coding> <system value="http://terminology.hl7.org/CodeSystem/consentcategorycodes" /> <code value="research" /> <display value="Research Information Access" /> </coding> </category> <policy> <authority value="https://www.england.nhs.uk" /> <uri value="https://www.england.nhs.uk/publication/nhs-genomic-medicine-service-record-of-discussion-form" /> </policy> </Consent> </resource> <request> <method value="POST" /> <url value="Consent" /> </request> </entry> </Bundle>
Bundle-WGSRoD-Example
Example of a consent resource with attached Record of Discussion form, as described in the Clinical Scenario: WGS Test Request - Rare Disease.
| Bundle |
| id : Bundle-WGSRoD-Example |
| type : transaction |
| entry |
| fullUrl : http://example.org/fhir/Consent/Consent-RoDToFollow-Example |
| resource |
| id : Consent-RoDToFollow-Example |
| status : active |
| scope |
| coding |
| system : http://terminology.hl7.org/CodeSystem/consentscope |
| code : research |
| display : Research |
| category |
| coding |
| system : http://terminology.hl7.org/CodeSystem/consentcategorycodes |
| code : research |
| display : Research Information Access |
| source |
| reference : QuestionnaireResponse/QuestionnaireResponse-RoD-Example |
| policy |
| authority : https://www.england.nhs.uk |
| uri : https://www.england.nhs.uk/publication/nhs-genomic-medicine-service-record-of-discussion-form |
| request |
| method : POST |
| url : Consent |
| entry |
| fullUrl : http://example.org/fhir/QuestionnaireResponse/QuestionnaireResponse-RoD-Example |
| resource |
| id : QuestionnaireResponse-RoD-Example |
| questionnaire : https://fhir.nhs.uk/Questionnaire/NHSDigital-Questionnaire-Genomics-Example |
| status : completed |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| authored : 2023-08-21 |
| author |
| identifier |
| system : https://fhir.nhs.uk/Id/sds-role-profile-id |
| value : 9999999996 |
| display : Test AHP |
| source |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| item |
| linkId : patientDetails |
| text : Patient Details |
| item |
| linkId : givenName |
| text : First Name |
| answer |
| value : Lindsay |
| item |
| linkId : familyName |
| text : Last Name |
| answer |
| value : Sorrell |
| item |
| linkId : nhs_Number |
| text : NHS number (or postcode if not not known) |
| answer |
| value : 944 9307 946 |
| item |
| linkId : birthDate |
| text : Date of Birth |
| answer |
| value : 2011-04-12 |
| item |
| linkId : declaration4 |
| text : Confirmation of Your Genomic Test and Research Choices |
| item |
| linkId : confirmation |
| text : I confirm that I have had the opportunity to discuss information about genomic testing, I agree to the genomic test, and my research choice is indicated below. |
| item |
| linkId : researchConfirmation1 |
| text : I have discussed taking part in the National Genomic Research Library. If your answer to A is NO then please ignore B and sign directly below |
| answer |
| value : True |
| item |
| linkId : researchConfirmation2 |
| text : I agree that my data and remainder sample may contribute to the National Genomic Research Library |
| answer |
| value : True |
| item |
| linkId : isRespondentAttorney |
| text : Are you completing this form on behalf of someone? |
| answer |
| value : False |
| item |
| linkId : patientValidation |
| text : Patient Validation |
| item |
| linkId : patientNamecombined |
| text : Patient Name |
| answer |
| value : Mr. Lindsay Sorrell |
| item |
| linkId : patientSignature |
| text : Signature |
| answer |
| value : NA |
| item |
| linkId : datePatientCompletedForm |
| text : Date |
| answer |
| value : 2023-08-21 |
| item |
| linkId : declaration5 |
| text : Healthcare professional use only |
| item |
| linkId : healthcareProfessional |
| text : To be completed by the healthcare professional recording the patient’s choices. |
| item |
| linkId : patientCategory |
| text : Patient category |
| answer |
| value |
| system : https://fhir.nhs.uk/CodeSystem/patient-choice-category-genomics |
| code : AdultOwnChoice |
| display : Adult(made their own choice) |
| item |
| linkId : testType |
| text : Test type |
| answer |
| value |
| system : https://fhir.nhs.uk/CodeSystem/test-type-genomics |
| code : RID-WGS |
| display : Rare and Inherited Diseases - WGS |
| item |
| linkId : remoteConsent |
| text : Remote consent, recorded remotely by clinician, no patient signature |
| answer |
| value : True |
| item |
| linkId : responsibleClinician |
| text : Responsible clinician |
| answer |
| value : Dr Hazel Smith |
| item |
| linkId : patientMRN |
| text : Hospital number |
| answer |
| value : RWT14789 |
| item |
| linkId : healthcareProfessionalName |
| text : Healthcare professional name |
| answer |
| value : Test AHP |
| item |
| linkId : healthcareProfessionalSignature |
| text : Signature |
| answer |
| value : Dr. Hazel Smith |
| item |
| linkId : datehealthcareProfessionalCompletedForm |
| text : Date |
| answer |
| value : 2023-08-21 |
| request |
| method : POST |
| url : QuestionnaireResponse |
{ "resourceType": "Bundle", "id": "Bundle-WGSRoD-Example", "type": "transaction", "entry": [ { "fullUrl": "http://example.org/fhir/Consent/Consent-RoDToFollow-Example", "resource": { "resourceType": "Consent", "id": "Consent-RoDToFollow-Example", "status": "active", "scope": { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/consentscope", "code": "research", "display": "Research" } ] }, "category": [ { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/consentcategorycodes", "code": "research", "display": "Research Information Access" } ] } ], "sourceReference": { "reference": "QuestionnaireResponse/QuestionnaireResponse-RoD-Example" }, "policy": [ { "authority": "https://www.england.nhs.uk", "uri": "https://www.england.nhs.uk/publication/nhs-genomic-medicine-service-record-of-discussion-form" } ] }, "request": { "method": "POST", "url": "Consent" } }, { "fullUrl": "http://example.org/fhir/QuestionnaireResponse/QuestionnaireResponse-RoD-Example", "resource": { "resourceType": "QuestionnaireResponse", "id": "QuestionnaireResponse-RoD-Example", "questionnaire": "https://fhir.nhs.uk/Questionnaire/NHSDigital-Questionnaire-Genomics-Example", "status": "completed", "subject": { "reference": "Patient/Patient-LindsaySorrell-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307946" } }, "authored": "2023-08-21", "author": { "identifier": { "system": "https://fhir.nhs.uk/Id/sds-role-profile-id", "value": "9999999996" }, "display": "Test AHP" }, "source": { "reference": "Patient/Patient-LindsaySorrell-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307946" } }, "item": [ { "linkId": "patientDetails", "text": "Patient Details", "item": [ { "linkId": "givenName", "text": "First Name", "answer": [ { "valueString": "Lindsay" } ] }, { "linkId": "familyName", "text": "Last Name", "answer": [ { "valueString": "Sorrell" } ] }, { "linkId": "nhs_Number", "text": "NHS number (or postcode if not not known)", "answer": [ { "valueString": "944 9307 946" } ] }, { "linkId": "birthDate", "text": "Date of Birth", "answer": [ { "valueDate": "2011-04-12" } ] } ] }, { "linkId": "declaration4", "text": "Confirmation of Your Genomic Test and Research Choices", "item": [ { "linkId": "confirmation", "text": "I confirm that I have had the opportunity to discuss information about genomic testing, I agree to the genomic test, and my research choice is indicated below.", "item": [ { "linkId": "researchConfirmation1", "text": "I have discussed taking part in the National Genomic Research Library. If your answer to A is NO then please ignore B and sign directly below", "answer": [ { "valueBoolean": true } ] }, { "linkId": "researchConfirmation2", "text": "I agree that my data and remainder sample may contribute to the National Genomic Research Library", "answer": [ { "valueBoolean": true } ] } ] } ] }, { "linkId": "isRespondentAttorney", "text": "Are you completing this form on behalf of someone?", "answer": [ { "valueBoolean": false } ] }, { "linkId": "patientValidation", "text": "Patient Validation", "item": [ { "linkId": "patientNamecombined", "text": "Patient Name", "answer": [ { "valueString": "Mr. Lindsay Sorrell" } ] }, { "linkId": "patientSignature", "text": "Signature", "answer": [ { "valueString": "NA" } ] }, { "linkId": "datePatientCompletedForm", "text": "Date", "answer": [ { "valueDateTime": "2023-08-21" } ] } ] }, { "linkId": "declaration5", "text": "Healthcare professional use only", "item": [ { "linkId": "healthcareProfessional", "text": "To be completed by the healthcare professional recording the patient’s choices.", "item": [ { "linkId": "patientCategory", "text": "Patient category", "answer": [ { "valueCoding": { "system": "https://fhir.nhs.uk/CodeSystem/patient-choice-category-genomics", "code": "AdultOwnChoice", "display": "Adult(made their own choice)" } } ] }, { "linkId": "testType", "text": "Test type", "answer": [ { "valueCoding": { "system": "https://fhir.nhs.uk/CodeSystem/test-type-genomics", "code": "RID-WGS", "display": "Rare and Inherited Diseases - WGS" } } ] }, { "linkId": "remoteConsent", "text": "Remote consent, recorded remotely by clinician, no patient signature", "answer": [ { "valueBoolean": true } ] }, { "linkId": "responsibleClinician", "text": "Responsible clinician", "answer": [ { "valueString": "Dr Hazel Smith" } ] }, { "linkId": "patientMRN", "text": "Hospital number", "answer": [ { "valueString": "RWT14789" } ] }, { "linkId": "healthcareProfessionalName", "text": "Healthcare professional name", "answer": [ { "valueString": "Test AHP" } ] }, { "linkId": "healthcareProfessionalSignature", "text": "Signature", "answer": [ { "valueString": "Dr. Hazel Smith" } ] }, { "linkId": "datehealthcareProfessionalCompletedForm", "text": "Date", "answer": [ { "valueDateTime": "2023-08-21" } ] } ] } ] } ] }, "request": { "method": "POST", "url": "QuestionnaireResponse" } } ] }
<Bundle xmlns="http://hl7.org/fhir"> <id value="Bundle-WGSRoD-Example" /> <type value="transaction" /> <entry> <fullUrl value="http://example.org/fhir/Consent/Consent-RoDToFollow-Example" /> <resource> <Consent> <id value="Consent-RoDToFollow-Example" /> <status value="active" /> <scope> <coding> <system value="http://terminology.hl7.org/CodeSystem/consentscope" /> <code value="research" /> <display value="Research" /> </coding> </scope> <category> <coding> <system value="http://terminology.hl7.org/CodeSystem/consentcategorycodes" /> <code value="research" /> <display value="Research Information Access" /> </coding> </category> <sourceReference> <reference value="QuestionnaireResponse/QuestionnaireResponse-RoD-Example" /> </sourceReference> <policy> <authority value="https://www.england.nhs.uk" /> <uri value="https://www.england.nhs.uk/publication/nhs-genomic-medicine-service-record-of-discussion-form" /> </policy> </Consent> </resource> <request> <method value="POST" /> <url value="Consent" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/QuestionnaireResponse/QuestionnaireResponse-RoD-Example" /> <resource> <QuestionnaireResponse> <id value="QuestionnaireResponse-RoD-Example" /> <questionnaire value="https://fhir.nhs.uk/Questionnaire/NHSDigital-Questionnaire-Genomics-Example" /> <status value="completed" /> <subject> <reference value="Patient/Patient-LindsaySorrell-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307946" /> </identifier> </subject> <authored value="2023-08-21" /> <author> <identifier> <system value="https://fhir.nhs.uk/Id/sds-role-profile-id" /> <value value="9999999996" /> </identifier> <display value="Test AHP" /> </author> <source> <reference value="Patient/Patient-LindsaySorrell-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307946" /> </identifier> </source> <item> <linkId value="patientDetails" /> <text value="Patient Details" /> <item> <linkId value="givenName" /> <text value="First Name" /> <answer> <valueString value="Lindsay" /> </answer> </item> <item> <linkId value="familyName" /> <text value="Last Name" /> <answer> <valueString value="Sorrell" /> </answer> </item> <item> <linkId value="nhs_Number" /> <text value="NHS number (or postcode if not not known)" /> <answer> <valueString value="944 9307 946" /> </answer> </item> <item> <linkId value="birthDate" /> <text value="Date of Birth" /> <answer> <valueDate value="2011-04-12" /> </answer> </item> </item> <item> <linkId value="declaration4" /> <text value="Confirmation of Your Genomic Test and Research Choices" /> <item> <linkId value="confirmation" /> <text value="I confirm that I have had the opportunity to discuss information about genomic testing, I agree to the genomic test, and my research choice is indicated below." /> <item> <linkId value="researchConfirmation1" /> <text value="I have discussed taking part in the National Genomic Research Library. If your answer to A is NO then please ignore B and sign directly below" /> <answer> <valueBoolean value="true" /> </answer> </item> <item> <linkId value="researchConfirmation2" /> <text value="I agree that my data and remainder sample may contribute to the National Genomic Research Library" /> <answer> <valueBoolean value="true" /> </answer> </item> </item> </item> <item> <linkId value="isRespondentAttorney" /> <text value="Are you completing this form on behalf of someone?" /> <answer> <valueBoolean value="false" /> </answer> </item> <item> <linkId value="patientValidation" /> <text value="Patient Validation" /> <item> <linkId value="patientNamecombined" /> <text value="Patient Name" /> <answer> <valueString value="Mr. Lindsay Sorrell" /> </answer> </item> <item> <linkId value="patientSignature" /> <text value="Signature" /> <answer> <valueString value="NA" /> </answer> </item> <item> <linkId value="datePatientCompletedForm" /> <text value="Date" /> <answer> <valueDateTime value="2023-08-21" /> </answer> </item> </item> <item> <linkId value="declaration5" /> <text value="Healthcare professional use only" /> <item> <linkId value="healthcareProfessional" /> <text value="To be completed by the healthcare professional recording the patient’s choices." /> <item> <linkId value="patientCategory" /> <text value="Patient category" /> <answer> <valueCoding> <system value="https://fhir.nhs.uk/CodeSystem/patient-choice-category-genomics" /> <code value="AdultOwnChoice" /> <display value="Adult(made their own choice)" /> </valueCoding> </answer> </item> <item> <linkId value="testType" /> <text value="Test type" /> <answer> <valueCoding> <system value="https://fhir.nhs.uk/CodeSystem/test-type-genomics" /> <code value="RID-WGS" /> <display value="Rare and Inherited Diseases - WGS" /> </valueCoding> </answer> </item> <item> <linkId value="remoteConsent" /> <text value="Remote consent, recorded remotely by clinician, no patient signature" /> <answer> <valueBoolean value="true" /> </answer> </item> <item> <linkId value="responsibleClinician" /> <text value="Responsible clinician" /> <answer> <valueString value="Dr Hazel Smith" /> </answer> </item> <item> <linkId value="patientMRN" /> <text value="Hospital number" /> <answer> <valueString value="RWT14789" /> </answer> </item> <item> <linkId value="healthcareProfessionalName" /> <text value="Healthcare professional name" /> <answer> <valueString value="Test AHP" /> </answer> </item> <item> <linkId value="healthcareProfessionalSignature" /> <text value="Signature" /> <answer> <valueString value="Dr. Hazel Smith" /> </answer> </item> <item> <linkId value="datehealthcareProfessionalCompletedForm" /> <text value="Date" /> <answer> <valueDateTime value="2023-08-21" /> </answer> </item> </item> </item> </QuestionnaireResponse> </resource> <request> <method value="POST" /> <url value="QuestionnaireResponse" /> </request> </entry> </Bundle>