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-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 |
| 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-england |
| display : NHS England |
| 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 |
| version : 7 |
| 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 : https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics |
| code : diagnostic |
| display : Diagnostic |
| supportingInfo |
| reference : Observation/Observation-DiseaseStatus-Example |
| supportingInfo |
| reference : Observation/Observation-GenomicEthnicity-Example |
| supportingInfo |
| reference : Observation/Observation-NoPregnancy-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 : 60001007 |
| display : Not pregnant (finding) |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| effective : 2023-08-05 |
| 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 |
| version : 7 |
| 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/Observation/Observation-NonConsanguinousUnion-Example |
| resource |
| id : Observation-NonConsanguinousUnion-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 160475008 |
| display : Family history: Consanguinity (situation) |
| 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 : 416128008 |
| display : No history of procedure (situation) |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 445715009 |
| display : Blood and marrow transplantation (qualifier value) |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| effective : 2023-08-05 |
| 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 : 416128008 |
| display : No history of procedure (situation) |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 303955003 |
| display : Transfusion - action (qualifier value) |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| effective : 2023-08-05 |
| 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 : http://human-phenotype-ontology.org |
| version : 20221005 |
| 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 : http://human-phenotype-ontology.org |
| version : 20221005 |
| 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 : http://human-phenotype-ontology.org |
| version : 20221005 |
| 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 : http://human-phenotype-ontology.org |
| version : 20221005 |
| 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 : http://human-phenotype-ontology.org |
| version : 20221005 |
| 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-WGSTestOrderForm-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 |
| provision |
| data |
| meaning : instance |
| reference |
| reference : ServiceRequest/ServiceRequest-WGSTestOrderForm-Example |
| 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" } ], "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-england", "display": "NHS England" } ] } } ], "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", "version": "7" } ] }, "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": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics", "code": "diagnostic", "display": "Diagnostic" } ] } ], "supportingInfo": [ { "reference": "Observation/Observation-DiseaseStatus-Example" }, { "reference": "Observation/Observation-GenomicEthnicity-Example" }, { "reference": "Observation/Observation-NoPregnancy-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": "60001007", "display": "Not pregnant (finding)" } ] }, "subject": { "reference": "Patient/Patient-LindsaySorrell-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307946" } }, "effectiveDateTime": "2023-08-05" }, "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", "version": "7" } ] }, "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/Observation/Observation-NonConsanguinousUnion-Example", "resource": { "resourceType": "Observation", "id": "Observation-NonConsanguinousUnion-Example", "status": "final", "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "160475008", "display": "Family history: Consanguinity (situation)" } ] }, "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": "416128008", "display": "No history of procedure (situation)" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://snomed.info/sct", "code": "445715009", "display": "Blood and marrow transplantation (qualifier value)" } ] }, "subject": { "reference": "Patient/Patient-LindsaySorrell-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307946" } }, "effectiveDateTime": "2023-08-05" }, "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": "416128008", "display": "No history of procedure (situation)" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://snomed.info/sct", "code": "303955003", "display": "Transfusion - action (qualifier value)" } ] }, "subject": { "reference": "Patient/Patient-LindsaySorrell-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307946" } }, "effectiveDateTime": "2023-08-05" }, "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": "http://human-phenotype-ontology.org", "version": "20221005", "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": "http://human-phenotype-ontology.org", "version": "20221005", "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": "http://human-phenotype-ontology.org", "version": "20221005", "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": "http://human-phenotype-ontology.org", "version": "20221005", "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": "http://human-phenotype-ontology.org", "version": "20221005", "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-WGSTestOrderForm-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" } ], "provision": { "data": [ { "meaning": "instance", "reference": { "reference": "ServiceRequest/ServiceRequest-WGSTestOrderForm-Example" } } ] } }, "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> <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-england" /> <display value="NHS England" /> </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" /> <version value="7" /> <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="https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics" /> <code value="diagnostic" /> <display value="Diagnostic" /> </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="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="60001007" /> <display value="Not pregnant (finding)" /> </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" /> </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" /> <version value="7" /> <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/Observation/Observation-NonConsanguinousUnion-Example" /> <resource> <Observation> <id value="Observation-NonConsanguinousUnion-Example" /> <status value="final" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="160475008" /> <display value="Family history: Consanguinity (situation)" /> </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="416128008" /> <display value="No history of procedure (situation)" /> </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="445715009" /> <display value="Blood and marrow transplantation (qualifier value)" /> </coding> </valueCodeableConcept> </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="416128008" /> <display value="No history of procedure (situation)" /> </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="303955003" /> <display value="Transfusion - action (qualifier value)" /> </coding> </valueCodeableConcept> </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="http://human-phenotype-ontology.org" /> <version value="20221005" /> <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="http://human-phenotype-ontology.org" /> <version value="20221005" /> <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="http://human-phenotype-ontology.org" /> <version value="20221005" /> <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="http://human-phenotype-ontology.org" /> <version value="20221005" /> <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="http://human-phenotype-ontology.org" /> <version value="20221005" /> <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-WGSTestOrderForm-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> <provision> <data> <meaning value="instance" /> <reference> <reference value="ServiceRequest/ServiceRequest-WGSTestOrderForm-Example" /> </reference> </data> </provision> </Consent> </resource> <request> <method value="POST" /> <url value="Consent" /> </request> </entry> </Bundle>