{ "resourceType" : "Bundle", "id" : "NonWGSTestOrderFormQRPatientExtensions-Example", "meta" : { "profile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/BundleMessage"] }, "language" : "en", "identifier" : { "system" : "https://tools.ietf.org/html/rfc4122", "value" : "b927df7e-4083-48a8-8c14-6e99307fd505" }, "type" : "message", "timestamp" : "2026-06-15T09:00:00Z", "entry" : [{ "fullUrl" : "urn:uuid:71b2e764-98fa-4182-926e-a7f66ab75dbe", "resource" : { "resourceType" : "MessageHeader", "id" : "71b2e764-98fa-4182-926e-a7f66ab75dbe", "language" : "en", "text" : { "status" : "generated", "div" : "

Generated Narrative: MessageHeader 71b2e764-98fa-4182-926e-a7f66ab75dbe

event: event: O21 (OML - Laboratory order)

Destinations

-NameEndpointReceiver
*National Genomic Medicine Servicehttps://api.service.nhs.uk/GMSNORTH WEST GLH LED BY MANCHESTER UNIVERSITY NHS FOUNDATION TRUST (Identifier: ODS Organisation Code/699X0)

sender: Addenbrooke's Hospital (Identifier: ODS Organisation Code/RGT01)

Sources

-Endpoint
*https://example.org/fhir/SendingSystem

focus: ServiceRequest Monogenic hearing loss - Panel sequencing

" }, "eventCoding" : { "system" : "http://terminology.hl7.org/CodeSystem/v2-0003", "code" : "O21" }, "destination" : [{ "name" : "National Genomic Medicine Service", "endpoint" : "https://api.service.nhs.uk/GMS", "receiver" : { "identifier" : { "system" : "https://fhir.nhs.uk/Id/ods-organization-code", "value" : "699X0" }, "display" : "NORTH WEST GLH LED BY MANCHESTER UNIVERSITY NHS FOUNDATION TRUST" } }], "sender" : { "identifier" : { "system" : "https://fhir.nhs.uk/Id/ods-organization-code", "value" : "RGT01" }, "display" : "Addenbrooke's Hospital" }, "source" : { "endpoint" : "https://example.org/fhir/SendingSystem" }, "focus" : [{ "reference" : "http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-Example" }] } }, { "fullUrl" : "http://example.org/fhir/Patient/Patient-NonWGSTestOrderFormQRPatientExtensions-Example", "resource" : { "resourceType" : "Patient", "id" : "Patient-NonWGSTestOrderFormQRPatientExtensions-Example", "language" : "en", "text" : { "status" : "generated", "div" : "

Generated Narrative: Patient Patient-NonWGSTestOrderFormQRPatientExtensions-Example

Meir Anah Lieberman (no stated gender), DoB: 2005-12-19 ( https://fhir.nhs.uk/Id/nhs-number#NHS Number#9449307873)

" }, "identifier" : [{ "system" : "https://fhir.nhs.uk/Id/nhs-number", "value" : "9449307873" }], "name" : [{ "family" : "Lieberman", "given" : ["Meir", "Anah"] }], "birthDate" : "2005-12-19" } }, { "fullUrl" : "http://example.org/fhir/PractitionerRole/PractitionerRole-GeneSmithENT-Example", "resource" : { "resourceType" : "PractitionerRole", "id" : "PractitionerRole-GeneSmithENT-Example", "language" : "en", "text" : { "status" : "generated", "div" : "

Generated Narrative: PractitionerRole PractitionerRole-GeneSmithENT-Example

practitioner: Dr. Gene Smith (Identifier: https://fhir.nhs.uk/Id/sds-user-id/9999999999)

organization: Addenbrooke's Hospital (Identifier: ODS Organisation Code/RGT01)

specialty: Ear Nose and Throat

telecom: ph: 01223586638, gene.smith@nhs.net, Add-tr.entsecretaries@nhs.net

" }, "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" }, { "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/contactpoint-comment", "valueString" : "reporting" }], "system" : "email", "value" : "Add-tr.entsecretaries@nhs.net" }] } }, { "fullUrl" : "http://example.org/fhir/QuestionnaireResponse/QuestionnaireResponse-PatientExtensions-Example", "resource" : { "resourceType" : "QuestionnaireResponse", "id" : "QuestionnaireResponse-PatientExtensions-Example", "language" : "en", "text" : { "status" : "generated", "div" : "

Generated Narrative: QuestionnaireResponse QuestionnaireResponse-PatientExtensions-Example

\r\n\r\n\r\n
LinkIDTextDefinitionAnswer\"doco\"
\".\"\".\" QuestionnaireResponse-PatientExtensions-ExampleQuestionnaire:https://fhir.nhs.uk/Questionnaire/Patient-Extensions-Example
\".\"\".\"\".\" 364699009Patient - EthnicityUK Core Ethnic Category England: A (White - British)
\".\"\".\"\".\" 1345193002Patient - Sex defined at birthAdministrativeGender: M (Male)

\"doco\" Documentation for this format
" }, "questionnaire" : "https://fhir.nhs.uk/Questionnaire/Patient-Extensions-Example", "status" : "completed", "subject" : { "reference" : "http://example.org/fhir/Patient/Patient-NonWGSTestOrderFormQRPatientExtensions-Example", "identifier" : { "system" : "https://fhir.nhs.uk/Id/nhs-number", "value" : "9449307873" } }, "authored" : "2023-10-01T15:00:00Z", "item" : [{ "linkId" : "364699009", "text" : "Patient - Ethnicity", "answer" : [{ "valueCoding" : { "system" : "https://fhir.hl7.org.uk/CodeSystem/UKCore-EthnicCategoryEngland", "code" : "A", "display" : "White - British" } }] }, { "linkId" : "1345193002", "text" : "Patient - Sex defined at birth", "answer" : [{ "valueCoding" : { "system" : "http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender", "code" : "M", "display" : "Male" } }] }] } }, { "fullUrl" : "http://example.org/fhir/Observation/Observation-GenomicEthnicity-Example", "resource" : { "resourceType" : "Observation", "id" : "Observation-GenomicEthnicity-Example", "language" : "en", "text" : { "status" : "generated", "div" : "

Generated Narrative: Observation Observation-GenomicEthnicity-Example

status: Preliminary

code: Ethnicity

subject: Meir Anah Lieberman (no stated gender), DoB: 2005-12-19 ( https://fhir.nhs.uk/Id/nhs-number#NHS Number#9449307873)

value: unknown

" }, "status" : "preliminary", "code" : { "coding" : [{ "system" : "http://snomed.info/sct", "code" : "723621000000103", "display" : "Ethnicity" }] }, "subject" : { "reference" : "http://example.org/fhir/Patient/Patient-NonWGSTestOrderFormQRPatientExtensions-Example", "identifier" : { "system" : "https://fhir.nhs.uk/Id/nhs-number", "value" : "9449307873" } }, "valueString" : "unknown" } }, { "fullUrl" : "http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-Example", "resource" : { "resourceType" : "ServiceRequest", "id" : "ServiceRequest-NonWGSTestOrderForm-Example", "language" : "en", "text" : { "status" : "extensions", "div" : "

Generated Narrative: ServiceRequest ServiceRequest-NonWGSTestOrderForm-Example

Extension UK Core Coverage: NHS England

status: Active

intent: Order

category: Diagnostic

priority: Routine

code: Monogenic hearing loss - Panel sequencing

subject: Meir Anah Lieberman (no stated gender), DoB: 2005-12-19 ( https://fhir.nhs.uk/Id/nhs-number#NHS Number#9449307873)

authoredOn: 2023-08-05

requester: PractitionerRole: specialty = Ear Nose and Throat; telecom = ph: 01223586638,gene.smith@nhs.net,Add-tr.entsecretaries@nhs.net

reasonCode: Monogenic hearing loss

supportingInfo:

note:

No family history of genomic testing\nFree text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/Patient in need of test...example

\n
" }, "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.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", "code" : "diagnostic", "display" : "Diagnostic" }] }], "priority" : "routine", "code" : { "coding" : [{ "extension" : [{ "url" : "https://fhir.nhs.uk/England/StructureDefinition/Extension-GenomicTestCode-Version", "valueDecimal" : 1.0 }], "system" : "https://fhir.nhs.uk/CodeSystem/England-DigitalGenomicTestServices", "code" : "GT488", "display" : "Monogenic hearing loss - Panel sequencing" }] }, "subject" : { "reference" : "http://example.org/fhir/Patient/Patient-NonWGSTestOrderFormQRPatientExtensions-Example", "identifier" : { "system" : "https://fhir.nhs.uk/Id/nhs-number", "value" : "9449307873" } }, "authoredOn" : "2023-08-05", "requester" : { "reference" : "PractitionerRole/PractitionerRole-GeneSmithENT-Example" }, "reasonCode" : [{ "coding" : [{ "extension" : [{ "url" : "https://fhir.nhs.uk/England/StructureDefinition/Extension-GenomicTestCode-Version", "valueDecimal" : 1.0 }], "system" : "https://fhir.nhs.uk/CodeSystem/England-DigitalGenomicTestServices", "code" : "TP439", "display" : "Monogenic hearing loss" }] }], "supportingInfo" : [{ "reference" : "QuestionnaireResponse/QuestionnaireResponse-PatientExtensions-Example" }, { "reference" : "http://example.org/fhir/Observation/Condition-MonogenicHearingLoss-Example", "type" : "Observation" }, { "reference" : "Observation/Observation-GenomicEthnicity-Example" }, { "reference" : "Observation/Observation-NoPregnancy-Example" }, { "reference" : "Observation/Observation-NoTransplant-Example" }, { "reference" : "Observation/Observation-NoTransfusion-Example" }, { "reference" : "http://example.org/fhir/Observation/Condition-HearingLoss-Example", "type" : "Observation" }], "note" : [{ "text" : "No family history of genomic testing\nFree text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/Patient in need of test...example" }] } }, { "fullUrl" : "http://example.org/fhir/Observation/Observation-NoPregnancy-Example", "resource" : { "resourceType" : "Observation", "id" : "Observation-NoPregnancy-Example", "language" : "en", "text" : { "status" : "generated", "div" : "

Generated Narrative: Observation Observation-NoPregnancy-Example

status: Final

code: Not pregnant

subject: Meir Anah Lieberman (no stated gender), DoB: 2005-12-19 ( https://fhir.nhs.uk/Id/nhs-number#NHS Number#9449307873)

effective: 2023-08-05

" }, "status" : "final", "code" : { "coding" : [{ "system" : "http://snomed.info/sct", "code" : "60001007", "display" : "Not pregnant" }] }, "subject" : { "reference" : "http://example.org/fhir/Patient/Patient-NonWGSTestOrderFormQRPatientExtensions-Example", "identifier" : { "system" : "https://fhir.nhs.uk/Id/nhs-number", "value" : "9449307873" } }, "effectiveDateTime" : "2023-08-05" } }, { "fullUrl" : "http://example.org/fhir/Observation/Observation-NonConsanguinousUnion-Example", "resource" : { "resourceType" : "Observation", "id" : "Observation-NonConsanguinousUnion-Example", "language" : "en", "text" : { "status" : "generated", "div" : "

Generated Narrative: Observation Observation-NonConsanguinousUnion-Example

status: Final

code: Family history: Consanguinity

subject: Meir Anah Lieberman (no stated gender), DoB: 2005-12-19 ( https://fhir.nhs.uk/Id/nhs-number#NHS Number#9449307873)

effective: 2023-08-05

value: Negative

" }, "status" : "final", "code" : { "coding" : [{ "system" : "http://snomed.info/sct", "code" : "160475008", "display" : "Family history: Consanguinity" }] }, "subject" : { "reference" : "http://example.org/fhir/Patient/Patient-NonWGSTestOrderFormQRPatientExtensions-Example", "identifier" : { "system" : "https://fhir.nhs.uk/Id/nhs-number", "value" : "9449307873" } }, "effectiveDateTime" : "2023-08-05", "valueCodeableConcept" : { "coding" : [{ "system" : "http://snomed.info/sct", "code" : "260385009", "display" : "Negative" }] } } }, { "fullUrl" : "http://example.org/fhir/Observation/Observation-NoTransplant-Example", "resource" : { "resourceType" : "Observation", "id" : "Observation-NoTransplant-Example", "language" : "en", "text" : { "status" : "generated", "div" : "

Generated Narrative: Observation Observation-NoTransplant-Example

status: Final

code: No history of procedure

subject: Meir Anah Lieberman (no stated gender), DoB: 2005-12-19 ( https://fhir.nhs.uk/Id/nhs-number#NHS Number#9449307873)

effective: 2023-08-05

value: Transplant

" }, "status" : "final", "code" : { "coding" : [{ "system" : "http://snomed.info/sct", "code" : "416128008", "display" : "No history of procedure" }] }, "subject" : { "reference" : "http://example.org/fhir/Patient/Patient-NonWGSTestOrderFormQRPatientExtensions-Example", "identifier" : { "system" : "https://fhir.nhs.uk/Id/nhs-number", "value" : "9449307873" } }, "effectiveDateTime" : "2023-08-05", "valueCodeableConcept" : { "coding" : [{ "system" : "http://snomed.info/sct", "code" : "263903005", "display" : "Transplant" }] } } }, { "fullUrl" : "http://example.org/fhir/Observation/Observation-NoTransfusion-Example", "resource" : { "resourceType" : "Observation", "id" : "Observation-NoTransfusion-Example", "language" : "en", "text" : { "status" : "generated", "div" : "

Generated Narrative: Observation Observation-NoTransfusion-Example

status: Final

code: No history of procedure

subject: Meir Anah Lieberman (no stated gender), DoB: 2005-12-19 ( https://fhir.nhs.uk/Id/nhs-number#NHS Number#9449307873)

effective: 2023-08-05

value: Transfusion - action

" }, "status" : "final", "code" : { "coding" : [{ "system" : "http://snomed.info/sct", "code" : "416128008", "display" : "No history of procedure" }] }, "subject" : { "reference" : "http://example.org/fhir/Patient/Patient-NonWGSTestOrderFormQRPatientExtensions-Example", "identifier" : { "system" : "https://fhir.nhs.uk/Id/nhs-number", "value" : "9449307873" } }, "effectiveDateTime" : "2023-08-05", "valueCodeableConcept" : { "coding" : [{ "system" : "http://snomed.info/sct", "code" : "303955003", "display" : "Transfusion - action" }] } } }, { "fullUrl" : "http://example.org/fhir/Specimen/Specimen-BloodEDTA-Example", "resource" : { "resourceType" : "Specimen", "id" : "Specimen-BloodEDTA-Example", "language" : "en", "text" : { "status" : "generated", "div" : "

Generated Narrative: Specimen Specimen-BloodEDTA-Example

identifier: https://fhir.add.nhs.uk/Id/specimenId/RGT03135

status: Unavailable

type: Blood specimen

subject: Meir Anah Lieberman (no stated gender), DoB: 2005-12-19 ( https://fhir.nhs.uk/Id/nhs-number#NHS Number#9449307873)

request: ServiceRequest Monogenic hearing loss - Panel sequencing

Containers

-Additive[x]
*EDTA
" }, "identifier" : [{ "system" : "https://fhir.add.nhs.uk/Id/specimenId", "value" : "RGT03135" }], "status" : "unavailable", "type" : { "coding" : [{ "system" : "http://snomed.info/sct", "code" : "119297000", "display" : "Blood specimen" }] }, "subject" : { "reference" : "http://example.org/fhir/Patient/Patient-NonWGSTestOrderFormQRPatientExtensions-Example", "identifier" : { "system" : "https://fhir.nhs.uk/Id/nhs-number", "value" : "9449307873" } }, "request" : [{ "reference" : "ServiceRequest/ServiceRequest-NonWGSTestOrderForm-Example" }], "container" : [{ "additiveCodeableConcept" : { "coding" : [{ "system" : "http://snomed.info/sct", "code" : "69519002", "display" : "EDTA" }] } }] } }, { "fullUrl" : "http://example.org/fhir/Observation/Condition-MonogenicHearingLoss-Example", "resource" : { "resourceType" : "Observation", "id" : "Condition-MonogenicHearingLoss-Example", "language" : "en", "text" : { "status" : "generated", "div" : "

Generated Narrative: Observation Condition-MonogenicHearingLoss-Example

status: Final

code: Monogenic hearing loss

subject: Meir Anah Lieberman (no stated gender), DoB: 2005-12-19 ( https://fhir.nhs.uk/Id/nhs-number#NHS Number#9449307873)

" }, "status" : "final", "code" : { "coding" : [{ "system" : "https://fhir.nhs.uk/CodeSystem/England-DigitalGenomicTestServices", "code" : "TP439", "display" : "Monogenic hearing loss" }] }, "subject" : { "reference" : "http://example.org/fhir/Patient/Patient-NonWGSTestOrderFormQRPatientExtensions-Example", "identifier" : { "system" : "https://fhir.nhs.uk/Id/nhs-number", "value" : "9449307873" } } } }, { "fullUrl" : "http://example.org/fhir/Observation/Condition-HearingLoss-Example", "resource" : { "resourceType" : "Observation", "id" : "Condition-HearingLoss-Example", "language" : "en", "text" : { "status" : "generated", "div" : "

Generated Narrative: Observation Condition-HearingLoss-Example

status: Final

code: Bilateral hearing loss

subject: Meir Anah Lieberman (no stated gender), DoB: 2005-12-19 ( https://fhir.nhs.uk/Id/nhs-number#NHS Number#9449307873)

note:

hearing loss since childhood (example)

\n
" }, "status" : "final", "code" : { "coding" : [{ "system" : "http://snomed.info/sct", "code" : "95820000", "display" : "Bilateral hearing loss" }] }, "subject" : { "reference" : "http://example.org/fhir/Patient/Patient-NonWGSTestOrderFormQRPatientExtensions-Example", "identifier" : { "system" : "https://fhir.nhs.uk/Id/nhs-number", "value" : "9449307873" } }, "note" : [{ "text" : "hearing loss since childhood (example)" }] } }] }