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-NonWGSTestOrderFormQRPatientExtensions-Example
Example of a Non-WGS test request sent to the central broker, illustrating use of the QuestionnaireResponse resource for birthSex and Ethnicity as mentioned in Known Issues. This example also illustrates referencing an NHS patient by identifier only (as preferred by the private broker implementation).
| Bundle |
| id : Bundle-NonWGSTestOrderFormQRPatientExtensions-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 |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| system : email |
| value : Add-tr.entsecretaries@nhs.net |
| request |
| method : POST |
| url : PractitionerRole |
| entry |
| fullUrl : http://example.org/fhir/QuestionnaireResponse/QuestionnaireResponse-PatientExtensions-Example |
| resource |
| id : QuestionnaireResponse-PatientExtensions-Example |
| questionnaire : https://fhir.nhs.uk/Questionnaire/Patient-Extensions-Example |
| status : completed |
| subject |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307873 |
| authored : 2023-10-01T15:00:00Z |
| item |
| linkId : 364699009 |
| text : Patient - Ethnicity |
| answer |
| value |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-EthnicCategoryEngland |
| code : A |
| display : White - British |
| item |
| linkId : 1345193002 |
| text : Patient - Sex defined at birth |
| answer |
| value |
| system : http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender |
| code : M |
| display : Male |
| request |
| method : POST |
| url : QuestionnaireResponse |
| 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 |
| 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-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 |
| value : 1.0 |
| system : https://fhir.nhs.uk/CodeSystem/England-DigitalGenomicTestService |
| code : GT488 |
| display : Monogenic hearing loss - Panel sequencing |
| subject |
| 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 |
| value : 1.0 |
| system : https://fhir.nhs.uk/CodeSystem/England-DigitalGenomicTestService |
| code : TP439 |
| display : Monogenic hearing loss |
| supportingInfo |
| reference : QuestionnaireResponse/QuestionnaireResponse-PatientExtensions-Example |
| supportingInfo |
| reference : Condition/Condition-MonogenicHearingLoss-Example |
| supportingInfo |
| reference : Observation/Observation-GenomicEthnicity-Example |
| supportingInfo |
| reference : Observation/Observation-NoPregnancy-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 : 60001007 |
| display : Not pregnant |
| subject |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307873 |
| effective : 2023-08-05 |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Condition/Condition-MonogenicHearingLoss-Example |
| resource |
| id : Condition-MonogenicHearingLoss-Example |
| clinicalStatus |
| coding |
| system : http://terminology.hl7.org/CodeSystem/condition-clinical |
| code : inactive |
| display : Inactive |
| verificationStatus |
| coding |
| system : http://terminology.hl7.org/CodeSystem/condition-ver-status |
| code : provisional |
| display : Provisional |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-DigitalGenomicTestService |
| code : TP439 |
| display : Monogenic hearing loss |
| subject |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307873 |
| request |
| method : POST |
| url : Condition |
| 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 |
| subject |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307873 |
| effective : 2023-08-05 |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 260385009 |
| display : Negative |
| 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 : 416128008 |
| display : No history of procedure |
| subject |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307873 |
| effective : 2023-08-05 |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 263903005 |
| display : Transplant |
| 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 |
| subject |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307873 |
| effective : 2023-08-05 |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 303955003 |
| display : Transfusion - action |
| 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 |
| 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 : 119297000 |
| display : Blood specimen |
| subject |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307873 |
| request |
| reference : ServiceRequest/ServiceRequest-NonWGSTestOrderForm-Example |
| container |
| additive |
| coding |
| system : http://snomed.info/sct |
| code : 69519002 |
| display : EDTA |
| request |
| method : POST |
| url : Specimen |
{
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]
}
],
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{
},
{
{
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]
},
}
},
{
"fullUrl": "http://example.org/fhir/QuestionnaireResponse/QuestionnaireResponse-PatientExtensions-Example",
},
{
{
}
}
]
},
{
{
}
}
]
}
]
},
}
},
{
]
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{
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],
{
},
{
},
{
},
{
},
{
},
{
},
{
}
],
{
},
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/Patient in need of test...example"
}
]
},
}
},
{
},
},
},
}
},
{
{
}
]
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{
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]
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{
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]
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{
]
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{
],
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],
{
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]
},
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}
]
}
<PractitionerRole>
</identifier>
</practitioner>
</identifier>
</organization>
</coding>
</specialty>
</telecom>
</telecom>
</extension>
</telecom>
</PractitionerRole>
</resource>
</request>
</entry>
<fullUrl value="http://example.org/fhir/QuestionnaireResponse/QuestionnaireResponse-PatientExtensions-Example" />
<QuestionnaireResponse>
</identifier>
</subject>
</valueCoding>
</answer>
</item>
</valueCoding>
</answer>
</item>
</QuestionnaireResponse>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</Observation>
</resource>
</request>
</entry>
<fullUrl value="http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-Example" />
<ServiceRequest>
</coding>
</valueCodeableConcept>
</extension>
</coding>
</category>
</extension>
</coding>
</code>
</identifier>
</subject>
</requester>
</extension>
</coding>
</reasonCode>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</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>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</Observation>
</resource>
</request>
</entry>
<Condition>
</coding>
</clinicalStatus>
</coding>
</verificationStatus>
</coding>
</code>
</identifier>
</subject>
</Condition>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</valueCodeableConcept>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</valueCodeableConcept>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</valueCodeableConcept>
</Observation>
</resource>
</request>
</entry>
<Condition>
</coding>
</code>
</identifier>
</subject>
</note>
</Condition>
</resource>
</request>
</entry>
<Specimen>
</identifier>
</coding>
</type>
</identifier>
</subject>
</request>
</coding>
</additiveCodeableConcept>
</container>
</Specimen>
</resource>
</request>
</entry>
</Bundle>