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-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>