Notice
- Important: This guidance is under active development by NHS England and content may be added or updated on a regular basis.
- This Implementation Guide is currently in Draft and SHOULD NOT be used for development or active implementation without express direction from the NHS England Genomics Unit.
Bundle
Bundle-NonWGSTestOrderForm-CancerSolidTumor-Example
Example of a Non-WGS test request sent to the central broker, as described in the Clinical Scenario: CPGC Non-WGS Solid Tumour Scenario.
| Bundle |
| id : Bundle-NonWGSTestOrderForm-CancerSolidTumor-Example |
| type : transaction |
| entry |
| fullUrl : http://example.org/fhir/PractitionerRole/PractitionerRole-HazelSmithKingstonPathology-Example |
| resource |
| id : PractitionerRole-HazelSmithKingstonPathology-Example |
| practitioner |
| identifier |
| system : https://fhir.nhs.uk/Id/sds-user-id |
| value : 9999999998 |
| display : Dr. Hazel Smith |
| organization |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX01 |
| display : Kingston Hospital NHS Foundation Trust |
| specialty |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode |
| code : 820 |
| display : General Pathology |
| telecom |
| system : phone |
| value : 02085467711 |
| telecom |
| system : email |
| value : Hazel.smith14@nhs.net |
| telecom |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| system : email |
| value : pathologyseckingston@nhs.net |
| telecom |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| system : email |
| value : respiratorykingston@nhs.net |
| request |
| method : POST |
| url : PractitionerRole |
| entry |
| fullUrl : http://example.org/fhir/PractitionerRole/PractitionerRole-JamesTaylorKingstonPathology-Example |
| resource |
| id : PractitionerRole-JamesTaylorKingstonPathology-Example |
| practitioner |
| identifier |
| system : https://fhir.nhs.uk/Id/sds-user-id |
| value : 9999999998 |
| display : Dr. James Taylor |
| organization |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX01 |
| display : Kingston Hospital NHS Foundation Trust |
| specialty |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode |
| code : 820 |
| display : General Pathology |
| telecom |
| system : phone |
| value : 02085467711 |
| telecom |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| system : email |
| value : pathologyseckingston@nhs.net |
| telecom |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| system : email |
| value : respiratorykingston@nhs.net |
| request |
| method : POST |
| url : PractitionerRole |
| entry |
| fullUrl : http://example.org/fhir/PractitionerRole/PractitionerRole-AnnaLaneKingstonPathology-Example |
| resource |
| id : PractitionerRole-AnnaLaneKingstonPathology-Example |
| practitioner |
| identifier |
| system : https://fhir.nhs.uk/Id/sds-user-id |
| value : 9999999998 |
| display : Dr. Anna Lane |
| organization |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX01 |
| display : Kingston Hospital NHS Foundation Trust |
| specialty |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode |
| code : 820 |
| display : General Pathology |
| telecom |
| system : phone |
| value : 02085467711 |
| telecom |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| system : email |
| value : pathologyseckingston@nhs.net |
| telecom |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| system : email |
| value : respiratorykingston@nhs.net |
| request |
| method : POST |
| url : PractitionerRole |
| entry |
| fullUrl : http://example.org/fhir/Patient/Patient-ZelmaHadjkiss-Example |
| resource |
| id : Patient-ZelmaHadjkiss-Example |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex |
| value |
| coding |
| system : http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender |
| code : F |
| display : Female |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-EthnicCategory |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-EthnicCategoryEngland |
| code : A |
| display : White - British |
| identifier |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland |
| version : 1.1.1 |
| code : 01 |
| display : Number present and verified |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307555 |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : RWT17335 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX01 |
| name |
| family : Hadjkiss |
| given : Zelma |
| birthDate : 2011-03-19 |
| address |
| line : 2 Barclay Close |
| line : Fetcham |
| line : Leatherhead |
| line : Surrey |
| postalCode : KT22 9SY |
| generalPractitioner |
| identifier |
| system : https://fhir.hl7.org.uk/Id/gmp-number |
| value : G9999999 |
| display : Dr. Aero Smith |
| generalPractitioner |
| identifier |
| system : https://fhir.hl7.org.uk/Id/ODS-code |
| value : AP123 |
| display : anywhere place |
| link |
| other |
| reference : https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307555 |
| type : seealso |
| request |
| method : POST |
| url : Patient |
| ifNoneExist : Patient?identifier=https://fhir.nhs.uk/Id/nhs-number|9449307555 |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-MultipleTumors-Example |
| resource |
| id : Observation-MultipleTumors-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 371510003 |
| display : Proportion of specimen involved by tumour |
| subject |
| reference : Patient/Patient-ZelmaHadjkiss-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307555 |
| effective : 2023-09-08 |
| value |
| value : 25 |
| unit : % |
| system : http://unitsofmeasure.org |
| code : % |
| specimen |
| identifier |
| system : https://fhir.add.nhs.uk/Id/specimenId |
| value : RA257630 |
| component |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 369755005 |
| display : Multiple tumors |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 10828004 |
| display : Positive |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-Necrosis-Example |
| resource |
| id : Observation-Necrosis-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 405921002 |
| display : Percentage of neoplasm involved by necrosis |
| subject |
| reference : Patient/Patient-ZelmaHadjkiss-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307555 |
| effective : 2023-09-08 |
| value |
| value : 5 |
| unit : % |
| system : http://unitsofmeasure.org |
| code : % |
| interpretation |
| coding |
| system : http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation |
| code : H |
| display : High |
| text : Cellularity |
| specimen |
| identifier |
| system : https://fhir.add.nhs.uk/Id/specimenId |
| value : RA257630 |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Condition/Condition-LungTumor-Example |
| resource |
| id : Condition-LungTumor-Example |
| clinicalStatus |
| coding |
| system : http://terminology.hl7.org/CodeSystem/condition-clinical |
| code : recurrence |
| display : Recurrence |
| verificationStatus |
| coding |
| system : http://terminology.hl7.org/CodeSystem/condition-ver-status |
| code : provisional |
| display : Provisional |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 363358000 |
| display : Malignant tumour of lung |
| subject |
| reference : Patient/Patient-ZelmaHadjkiss-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 944930555 |
| request |
| method : POST |
| url : Condition |
| entry |
| fullUrl : http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-CancerSolidTumor-Example |
| resource |
| id : ServiceRequest-NonWGSTestOrderForm-CancerSolidTumor-Example |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
| code : nhs-england |
| display : NHS England |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-AdditionalContact |
| value |
| reference : PractitionerRole/PractitionerRole-AnnaLaneKingstonPathology-Example |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-AdditionalContact |
| value |
| reference : PractitionerRole/PractitionerRole-JamesTaylor-Example |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/cancer-testing-genomics |
| code : relapse-recurrence |
| display : Relapse or recurrence |
| 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 : GT1046 |
| display : Paediatric Tumour Differential Diagnosis - NGS Panel SNV and CNV |
| subject |
| reference : Patient/Patient-ZelmaHadjkiss-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307555 |
| authoredOn : 2023-09-08 |
| requester |
| reference : PractitionerRole/PractitionerRole-HazelSmithKingstonPathology-Example |
| performer |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RJZ |
| display : KING'S COLLEGE HOSPITAL NHS FOUNDATION TRUST |
| 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 : TP550 |
| display : Paediatric Tumours |
| supportingInfo |
| reference : Observation/Observation-MultipleTumors-Example |
| supportingInfo |
| reference : Observation/Observation-MultipleTumors-Example |
| supportingInfo |
| reference : Condition/Condition-LungTumor-Example |
| specimen |
| reference : Specimen/Specimen-CancerSolidTumor-Example |
| note |
| text : Free text for diagnosis/reason for referral, transplant, life status at time of request details/ e.g. malignant tumour - molecular assessment will aid management |
| request |
| method : POST |
| url : ServiceRequest |
{
{
"fullUrl": "http://example.org/fhir/PractitionerRole/PractitionerRole-HazelSmithKingstonPathology-Example",
},
},
},
},
{
{
}
]
}
],
{
},
{
},
{
{
}
],
},
{
{
}
],
}
]
},
}
},
{
"fullUrl": "http://example.org/fhir/PractitionerRole/PractitionerRole-JamesTaylorKingstonPathology-Example",
},
},
},
},
{
{
}
]
}
],
{
},
{
{
}
],
},
{
{
}
],
}
]
},
}
},
{
"fullUrl": "http://example.org/fhir/PractitionerRole/PractitionerRole-AnnaLaneKingstonPathology-Example",
},
},
},
},
{
{
}
]
}
],
{
},
{
{
}
],
},
{
{
}
],
}
]
},
}
},
{
{
{
}
]
}
},
{
{
}
]
}
}
],
{
{
{
}
]
}
}
],
},
{
}
}
],
],
],
{
},
},
{
},
}
],
{
},
}
]
},
}
},
{
{
}
]
},
}
},
},
},
{
]
},
}
}
]
},
}
},
{
{
}
]
},
}
},
},
{
{
}
],
}
],
}
},
}
},
{
{
}
]
},
{
}
]
},
]
},
}
}
},
}
},
{
"fullUrl": "http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-CancerSolidTumor-Example",
{
{
}
]
}
},
{
}
},
{
}
}
],
{
{
}
]
}
],
{
{
}
],
}
]
},
}
},
},
{
},
}
],
{
{
{
}
],
}
]
}
],
{
},
{
},
{
}
],
],
{
"text": "Free text for diagnosis/reason for referral, transplant, life status at time of request details/ e.g. malignant tumour - molecular assessment will aid management"
}
]
},
}
}
]
}
<fullUrl value="http://example.org/fhir/PractitionerRole/PractitionerRole-HazelSmithKingstonPathology-Example" />
<PractitionerRole>
</identifier>
</practitioner>
</identifier>
</organization>
</coding>
</specialty>
</telecom>
</telecom>
</extension>
</telecom>
</extension>
</telecom>
</PractitionerRole>
</resource>
</request>
</entry>
<fullUrl value="http://example.org/fhir/PractitionerRole/PractitionerRole-JamesTaylorKingstonPathology-Example" />
<PractitionerRole>
</identifier>
</practitioner>
</identifier>
</organization>
</coding>
</specialty>
</telecom>
</extension>
</telecom>
</extension>
</telecom>
</PractitionerRole>
</resource>
</request>
</entry>
<fullUrl value="http://example.org/fhir/PractitionerRole/PractitionerRole-AnnaLaneKingstonPathology-Example" />
<PractitionerRole>
</identifier>
</practitioner>
</identifier>
</organization>
</coding>
</specialty>
</telecom>
</extension>
</telecom>
</extension>
</telecom>
</PractitionerRole>
</resource>
</request>
</entry>
<Patient>
</coding>
</valueCodeableConcept>
</extension>
</coding>
</valueCodeableConcept>
</extension>
<extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus">
</coding>
</valueCodeableConcept>
</extension>
</identifier>
</identifier>
</assigner>
</identifier>
</name>
</address>
</identifier>
</generalPractitioner>
</identifier>
</generalPractitioner>
</other>
</link>
</Patient>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</valueQuantity>
</identifier>
</specimen>
</coding>
</code>
</coding>
</valueCodeableConcept>
</component>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</valueQuantity>
</coding>
</interpretation>
</identifier>
</specimen>
</Observation>
</resource>
</request>
</entry>
<Condition>
</coding>
</clinicalStatus>
</coding>
</verificationStatus>
</coding>
</code>
</identifier>
</subject>
</Condition>
</resource>
</request>
</entry>
<fullUrl value="http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-CancerSolidTumor-Example" />
<ServiceRequest>
</coding>
</valueCodeableConcept>
</extension>
</valueReference>
</extension>
</valueReference>
</extension>
</coding>
</category>
</extension>
</coding>
</code>
</identifier>
</subject>
</requester>
</identifier>
</performer>
</extension>
</coding>
</reasonCode>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</specimen>
<text value="Free text for diagnosis/reason for referral, transplant, life status at time of request details/ e.g. malignant tumour - molecular assessment will aid management" />
</note>
</ServiceRequest>
</resource>
</request>
</entry>
</Bundle>
Bundle-NonWGSTestOrderForm-Example
Example of a Non-WGS test request sent to the central broker, as described in the Clinical Scenario: Non-WGS Test Request - Rare Disease.
| Bundle |
| id : Bundle-NonWGSTestOrderForm-Example |
| type : transaction |
| entry |
| fullUrl : http://example.org/fhir/PractitionerRole/PractitionerRole-GeneSmithENT-Example |
| resource |
| id : PractitionerRole-GeneSmithENT-Example |
| practitioner |
| identifier |
| system : https://fhir.nhs.uk/Id/sds-user-id |
| value : 9999999999 |
| display : Dr. Gene Smith |
| organization |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RGT01 |
| display : Addenbrooke's Hospital |
| specialty |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode |
| code : 120 |
| display : Ear Nose and Throat |
| telecom |
| system : phone |
| value : 01223586638 |
| telecom |
| system : email |
| value : gene.smith@nhs.net |
| telecom |
| 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/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 |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland |
| version : 1.1.1 |
| code : 01 |
| display : Number present and verified |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307873 |
| 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 |
| name |
| family : Lieberman |
| given : Meir |
| given : Anah |
| 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-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 |
| 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 |
| 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 : 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 |
| reference : Patient/Patient-MeirLieberman-Example |
| 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 |
| reference : Patient/Patient-MeirLieberman-Example |
| 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 |
| 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 : 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 |
| 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 : 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 |
| 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 : 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 |
| 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 : 119297000 |
| display : Blood specimen |
| subject |
| reference : Patient/Patient-MeirLieberman-Example |
| 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 |
{
{
},
},
},
},
{
{
}
]
}
],
{
},
{
},
{
{
}
],
}
]
},
}
},
{
{
{
}
]
}
},
{
{
}
]
}
}
],
{
{
{
}
]
}
}
],
},
{
}
}
],
],
],
{
},
},
{
},
}
],
{
},
}
]
},
}
},
{
]
},
}
},
},
}
},
{
{
{
}
]
}
}
],
{
{
}
]
}
],
{
{
}
],
}
]
},
}
},
},
{
{
{
}
],
}
]
}
],
{
},
{
},
{
},
{
},
{
},
{
}
],
{
},
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/Patient in need of test...example"
}
]
},
}
},
{
},
}
},
},
}
},
{
{
}
]
},
{
}
]
},
{
}
]
},
}
}
},
}
},
{
{
}
]
},
}
},
}
},
}
},
{
]
},
}
},
}
},
}
},
{
]
},
}
},
]
}
},
}
},
{
]
},
}
},
]
},
}
},
{
],
]
},
}
},
],
{
}
}
]
},
}
}
]
}
<PractitionerRole>
</identifier>
</practitioner>
</identifier>
</organization>
</coding>
</specialty>
</telecom>
</telecom>
</extension>
</telecom>
</PractitionerRole>
</resource>
</request>
</entry>
<Patient>
</coding>
</valueCodeableConcept>
</extension>
</coding>
</valueCodeableConcept>
</extension>
<extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus">
</coding>
</valueCodeableConcept>
</extension>
</identifier>
</identifier>
</assigner>
</identifier>
</name>
</address>
</identifier>
</generalPractitioner>
</identifier>
</generalPractitioner>
</other>
</link>
</Patient>
</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>
</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>
Bundle-NonWGSTestOrderForm-FetalScenario-Example
Example of a Non-WGS test request sent to the central broker, as described in the Clinical Scenario:Fetus Management
| Bundle |
| id : Bundle-NonWGSTestOrderForm-FetalScenario-Example |
| type : transaction |
| entry |
| fullUrl : http://example.org/fhir/PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example |
| resource |
| id : PractitionerRole-LoisLaneKingstonClinicalGenetics-Example |
| practitioner |
| identifier |
| system : https://fhir.nhs.uk/Id/sds-user-id |
| value : 9999999999 |
| display : Dr. Lois Lane |
| organization |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| display : Kingston Hospital NHS Foundation Trust |
| specialty |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode |
| code : 311 |
| display : Clinical Genetics |
| telecom |
| system : phone |
| value : 02068457781 |
| telecom |
| system : email |
| value : lois.lane1@nhs.net |
| telecom |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| system : email |
| value : clinicalgeneticskingston@nhs.net |
| telecom |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| system : email |
| value : fetalmedicinekingston@nhs.net |
| telecom |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| system : email |
| value : gptestpracticekingston@nhs.net |
| request |
| method : POST |
| url : PractitionerRole |
| entry |
| fullUrl : http://example.org/fhir/Patient/Patient-RyanneBoulder-Example |
| resource |
| id : Patient-RyanneBoulder-Example |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex |
| value |
| coding |
| system : http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender |
| code : F |
| display : Female |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-EthnicCategory |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-EthnicCategoryEngland |
| code : A |
| display : White - British |
| identifier |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland |
| version : 1.1.1 |
| code : 01 |
| display : Number present and verified |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307687 |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : RWT13521 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| name |
| family : Boulder |
| given : Ryanne |
| birthDate : 1980-09-02 |
| deceased : False |
| address |
| line : 53 Eastwick Pack Avenue |
| line : Leatherhead |
| line : Surrey |
| postalCode : KT23 3NP |
| generalPractitioner |
| identifier |
| system : https://fhir.hl7.org.uk/Id/gmp-number |
| value : G9999999 |
| display : Dr. Aero Smith |
| generalPractitioner |
| identifier |
| system : https://fhir.hl7.org.uk/Id/ODS-code |
| value : AP123 |
| display : anywhere place |
| link |
| other |
| reference : https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307687 |
| type : seealso |
| link |
| other |
| reference : RelatedPerson/RelatedPerson-RyanneBoulder-Example |
| type : seealso |
| request |
| method : POST |
| url : Patient |
| ifNoneExist : Patient?identifier=https://fhir.nhs.uk/Id/nhs-number|9449307687 |
| entry |
| fullUrl : http://example.org/fhir/Patient/Patient-FoetusOfRyanneBoulder-Example |
| resource |
| id : Patient-FoetusOfRyanneBoulder-Example |
| extension |
| url : http://hl7.org/fhir/6.0/StructureDefinition/extension-Patient.fetalStatus |
| value : unknown |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : FT-RWT13521 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| gender : unknown |
| request |
| method : POST |
| url : Patient |
| ifNoneExist : Patient?identifier=urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24|FT-RWT13521 |
| entry |
| fullUrl : http://example.org/fhir/Patient/Patient-RyanneBoulderPartner-Example |
| resource |
| id : Patient-RyanneBoulderPartner-Example |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : P-RWT13521 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| gender : unknown |
| link |
| other |
| reference : RelatedPerson/RelatedPerson-RyanneBoulderPartner-Example |
| type : seealso |
| request |
| method : POST |
| url : Patient |
| ifNoneExist : Patient?identifier=urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24|P-RWT13521 |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-GenomicEthnicity-Example |
| resource |
| id : Observation-GenomicEthnicity-Example |
| status : preliminary |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 723621000000103 |
| display : Ethnicity |
| subject |
| reference : Patient/Patient-RyanneBoulder-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307687 |
| value : unknown |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example |
| resource |
| id : ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example |
| extension |
| url : https://fhir.nhs.uk/England/StructureDefinition/Extension-Genomic-Patient-Role |
| value |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/patient-role-genomics |
| code : proband |
| display : Proband |
| extension |
| url : https://fhir.nhs.uk/England/StructureDefinition/Extension-GenomicTest-ParticipantCount |
| value : 2 |
| 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 |
| requisition |
| system : https://fhir.kingstonandrichmond.nhs.uk/Id/grouptestId |
| value : RR-REQ20230925 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics |
| code : prenatal-diagnosis |
| display : Prenatal diagnosis |
| priority : urgent |
| subject |
| reference : Patient/Patient-FoetusOfRyanneBoulder-Example |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : FT-RWT13521 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| authoredOn : 2023-09-25 |
| requester |
| reference : PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example |
| reasonCode |
| coding |
| extension |
| url : https://fhir.nhs.uk/England/StructureDefinition/Extension-GenomicTestCode-Version |
| value : 1.0 |
| system : https://fhir.nhs.uk/CodeSystem/England-DigitalGenomicTestService |
| code : TP289 |
| display : Common aneuploidy testing - prenatal |
| supportingInfo |
| reference : Observation/Observation-NonConsanguinousUnion-Example |
| note |
| text : No family history of relevant testing |
| note |
| text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder |
| request |
| method : POST |
| url : ServiceRequest |
| entry |
| fullUrl : http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenarioMother-Example |
| resource |
| id : ServiceRequest-NonWGSTestOrderForm-FetalScenarioMother-Example |
| extension |
| url : https://fhir.nhs.uk/England/StructureDefinition/Extension-Genomic-Patient-Role |
| value |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/patient-role-genomics |
| code : consultand |
| display : Consultand |
| 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 |
| requisition |
| system : https://fhir.kingstonandrichmond.nhs.uk/Id/grouptestId |
| value : RR-REQ20230925 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics |
| code : prenatal-diagnosis |
| display : Prenatal diagnosis |
| priority : urgent |
| subject |
| reference : Patient/Patient-RyanneBoulder-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307687 |
| authoredOn : 2023-09-25 |
| requester |
| reference : PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-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 : TP289 |
| display : Common aneuploidy testing - prenatal |
| supportingInfo |
| reference : Observation/Observation-HistoryOfFetalLoss-Example |
| supportingInfo |
| reference : Observation/Observation-GenomicEthnicity-Example |
| supportingInfo |
| reference : Observation/Observation-PregnancyConfirmation-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransplant-Example |
| supportingInfo |
| reference : Observation/Observation-NoFirstTrimesterFetalAnomalies-Example |
| supportingInfo |
| reference : Observation/Observation-NoSecondTrimesterFetalAnomalies-Example |
| supportingInfo |
| reference : Procedure/Procedure-InVitroFertilisation-Example |
| supportingInfo |
| reference : RelatedPerson/RelatedPerson-RyanneBoulder-Example |
| note |
| text : No family history of relevant testing |
| note |
| text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder |
| request |
| method : POST |
| url : ServiceRequest |
| entry |
| fullUrl : http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenarioFather-Example |
| resource |
| id : ServiceRequest-NonWGSTestOrderForm-FetalScenarioFather-Example |
| extension |
| url : https://fhir.nhs.uk/England/StructureDefinition/Extension-Genomic-Patient-Role |
| value |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/patient-role-genomics |
| code : consultand |
| display : Consultand |
| 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 |
| requisition |
| system : https://fhir.kingstonandrichmond.nhs.uk/Id/grouptestId |
| value : RR-REQ20230925 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics |
| code : prenatal-diagnosis |
| display : Prenatal diagnosis |
| priority : urgent |
| subject |
| reference : Patient/Patient-RyanneBoulderPartner-Example |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : P-RWT13521 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| authoredOn : 2023-09-25 |
| requester |
| reference : PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-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 : TP289 |
| display : Common aneuploidy testing - prenatal |
| supportingInfo |
| reference : RelatedPerson/RelatedPerson-RyanneBoulderPartner-Example |
| note |
| text : Samples are to be provided at a later date |
| note |
| text : No family history of relevant testing |
| note |
| text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder |
| request |
| method : POST |
| url : ServiceRequest |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-HistoryOfFetalLoss-Example |
| resource |
| id : Observation-HistoryOfFetalLoss-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 161743003 |
| display : Past pregnancy history of stillbirth |
| text : Is the testing for a fetal loss from 24+0 or more weeks of gestation? |
| subject |
| reference : Patient/Patient-RyanneBoulder-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307687 |
| effective : 2023-09-25 |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 260385009 |
| display : Negative |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-PregnancyConfirmation-Example |
| resource |
| id : Observation-PregnancyConfirmation-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 77386006 |
| display : Pregnancy |
| subject |
| reference : Patient/Patient-RyanneBoulder-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307687 |
| effective : 2023-09-25 |
| component |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 720451000000102 |
| display : Assisted conception |
| component |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 226081000000107 |
| display : Gestational age |
| value |
| value : 87 |
| unit : day |
| system : http://unitsofmeasure.org |
| code : d |
| component |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 161714006 |
| display : Estimated date of delivery |
| value : 2024-05-01 |
| 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 |
| subject |
| reference : Patient/Patient-FoetusOfRyanneBoulder-Example |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : FT-RWT13521 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| effective : 2023-09-25 |
| value |
| 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 |
| reference : Patient/Patient-RyanneBoulder-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307687 |
| effective : 2023-09-25 |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 263903005 |
| display : Transplant |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-NoFirstTrimesterFetalAnomalies-Example |
| resource |
| id : Observation-NoFirstTrimesterFetalAnomalies-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 609520005 |
| display : Disorder of fetal structure |
| text : First Trimester Anomalies? |
| subject |
| reference : Patient/Patient-RyanneBoulder-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307687 |
| effective : 2023-09-25 |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 260385009 |
| display : Negative |
| component |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 255246003 |
| display : First trimester |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-NoSecondTrimesterFetalAnomalies-Example |
| resource |
| id : Observation-NoSecondTrimesterFetalAnomalies-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 609520005 |
| display : Disorder of fetal structure |
| text : Second Trimester Anomalies? |
| subject |
| reference : Patient/Patient-RyanneBoulder-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307687 |
| effective : 2023-09-25 |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 260385009 |
| display : Negative |
| component |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 255247007 |
| display : Second trimester |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Procedure/Procedure-InVitroFertilisation-Example |
| resource |
| id : Procedure-InVitroFertilisation-Example |
| status : completed |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 52637005 |
| display : In vitro fertilisation |
| subject |
| reference : Patient/Patient-RyanneBoulder-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307687 |
| performed : 2023-09-25 |
| note |
| text : Woman`s own egg |
| request |
| method : POST |
| url : Procedure |
| entry |
| fullUrl : http://example.org/fhir/Specimen/Specimen-BloodEDTA-Example |
| resource |
| id : Specimen-BloodEDTA-Example |
| identifier |
| system : https://fhir.kingstonhospital.nhs.uk/Id/specimenId |
| value : ROA-69050-216738 |
| status : unavailable |
| type |
| coding |
| system : http://snomed.info/sct |
| code : 119297000 |
| display : Blood specimen |
| subject |
| reference : Patient/Patient-RyanneBoulder-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307687 |
| request |
| reference : ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenarioMother-Example |
| container |
| additive |
| coding |
| system : http://snomed.info/sct |
| code : 69519002 |
| display : EDTA |
| request |
| method : POST |
| url : Specimen |
| entry |
| fullUrl : http://example.org/fhir/Specimen/Specimen-RyanneBoulderSaliva-Example |
| resource |
| id : Specimen-RyanneBoulderSaliva-Example |
| identifier |
| system : https://fhir.kingstonhospital.nhs.uk/Id/specimenId |
| value : ROA-69050-216739 |
| status : available |
| type |
| coding |
| system : http://snomed.info/sct |
| code : 119342007 |
| display : Saliva specimen |
| subject |
| reference : Patient/Patient-RyanneBoulder-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307687 |
| request |
| reference : ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenarioMother-Example |
| container |
| description : Container:ROA-69050-216739 contains Saliva for Mother |
| request |
| method : POST |
| url : Specimen |
| entry |
| fullUrl : http://example.org/fhir/RelatedPerson/RelatedPerson-RyanneBoulder-Example |
| resource |
| id : RelatedPerson-RyanneBoulder-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307687 |
| patient |
| reference : Patient/Patient-FoetusOfRyanneBoulder-Example |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : FT-RWT13521 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| relationship |
| coding |
| system : http://terminology.hl7.org/CodeSystem/v3-RoleCode |
| code : NMTHF |
| display : natural mother of fetus |
| request |
| method : POST |
| url : RelatedPerson |
| entry |
| fullUrl : http://example.org/fhir/RelatedPerson/RelatedPerson-RyanneBoulderPartner-Example |
| resource |
| id : RelatedPerson-RyanneBoulderPartner-Example |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : P-RWT13521 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| patient |
| reference : Patient/Patient-FoetusOfRyanneBoulder-Example |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : FT-RWT13521 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| relationship |
| coding |
| system : http://terminology.hl7.org/CodeSystem/v3-RoleCode |
| code : NFTHF |
| display : natural father of fetus |
| request |
| method : POST |
| url : RelatedPerson |
{
{
"fullUrl": "http://example.org/fhir/PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example",
},
},
},
},
{
{
}
]
}
],
{
},
{
},
{
{
}
],
},
{
{
}
],
},
{
{
}
],
}
]
},
}
},
{
{
{
}
]
}
},
{
{
}
]
}
}
],
{
{
{
}
]
}
}
],
},
{
}
}
],
],
],
{
},
},
{
},
}
],
{
},
},
{
}
]
},
}
},
{
{
}
],
{
}
}
],
},
}
},
{
{
}
}
],
{
},
}
]
},
}
},
{
]
},
}
},
},
}
},
{
"fullUrl": "http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example",
{
{
}
]
}
},
{
},
{
{
}
]
}
}
],
}
},
{
{
}
]
}
],
}
}
},
},
{
{
{
}
],
}
]
}
],
],
{
},
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder"
}
]
},
}
},
{
"fullUrl": "http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenarioMother-Example",
{
{
}
]
}
},
{
{
}
]
}
}
],
}
},
{
{
}
]
}
],
}
},
},
{
{
{
}
],
}
]
}
],
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
}
],
{
},
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder"
}
]
},
}
},
{
"fullUrl": "http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenarioFather-Example",
{
{
}
]
}
},
{
{
}
]
}
}
],
}
},
{
{
}
]
}
],
}
}
},
},
{
{
{
}
],
}
]
}
],
],
{
},
{
},
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder"
}
]
},
}
},
{
{
}
],
},
}
},
}
},
}
},
{
},
}
},
{
]
}
},
{
]
},
}
},
{
{
}
]
},
}
]
},
}
},
{
{
}
]
},
}
}
},
}
},
}
},
{
]
},
}
},
}
},
}
},
{
"fullUrl": "http://example.org/fhir/Observation/Observation-NoFirstTrimesterFetalAnomalies-Example",
{
}
],
},
}
},
},
{
]
}
}
]
},
}
},
{
"fullUrl": "http://example.org/fhir/Observation/Observation-NoSecondTrimesterFetalAnomalies-Example",
{
}
],
},
}
},
},
{
]
}
}
]
},
}
},
{
]
},
}
},
]
},
}
},
{
],
]
},
}
},
],
{
}
}
]
},
}
},
{
],
]
},
}
},
],
]
},
}
},
{
],
}
}
},
{
{
}
]
}
]
},
}
},
{
{
}
}
],
}
}
},
{
{
}
]
}
]
},
}
}
]
}
<fullUrl value="http://example.org/fhir/PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example" />
<PractitionerRole>
</identifier>
</practitioner>
</identifier>
</organization>
</coding>
</specialty>
</telecom>
</telecom>
</extension>
</telecom>
</extension>
</telecom>
</extension>
</telecom>
</PractitionerRole>
</resource>
</request>
</entry>
<Patient>
</coding>
</valueCodeableConcept>
</extension>
</coding>
</valueCodeableConcept>
</extension>
<extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus">
</coding>
</valueCodeableConcept>
</extension>
</identifier>
</identifier>
</assigner>
</identifier>
</name>
</address>
</identifier>
</generalPractitioner>
</identifier>
</generalPractitioner>
</other>
</link>
</other>
</link>
</Patient>
</resource>
</request>
</entry>
<Patient>
</extension>
</identifier>
</assigner>
</identifier>
</Patient>
</resource>
</request>
</entry>
<Patient>
</identifier>
</assigner>
</identifier>
</other>
</link>
</Patient>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</Observation>
</resource>
</request>
</entry>
<fullUrl value="http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example" />
<ServiceRequest>
</coding>
</valueCodeableConcept>
</extension>
<extension url="https://fhir.nhs.uk/England/StructureDefinition/Extension-GenomicTest-ParticipantCount">
</extension>
</coding>
</valueCodeableConcept>
</extension>
</identifier>
</assigner>
</requisition>
</coding>
</category>
</identifier>
</assigner>
</identifier>
</subject>
</requester>
</extension>
</coding>
</reasonCode>
</supportingInfo>
</note>
<text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder" />
</note>
</ServiceRequest>
</resource>
</request>
</entry>
<fullUrl value="http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenarioMother-Example" />
<ServiceRequest>
</coding>
</valueCodeableConcept>
</extension>
</coding>
</valueCodeableConcept>
</extension>
</identifier>
</assigner>
</requisition>
</coding>
</category>
</identifier>
</subject>
</requester>
</extension>
</coding>
</reasonCode>
</supportingInfo>
</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/ E.g. large echogenic kidneys with normal bladder" />
</note>
</ServiceRequest>
</resource>
</request>
</entry>
<fullUrl value="http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenarioFather-Example" />
<ServiceRequest>
</coding>
</valueCodeableConcept>
</extension>
</coding>
</valueCodeableConcept>
</extension>
</identifier>
</assigner>
</requisition>
</coding>
</category>
</identifier>
</assigner>
</identifier>
</subject>
</requester>
</extension>
</coding>
</reasonCode>
</supportingInfo>
</note>
</note>
<text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder" />
</note>
</ServiceRequest>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</valueCodeableConcept>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</code>
</component>
</coding>
</code>
</valueQuantity>
</component>
</coding>
</code>
</component>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</assigner>
</identifier>
</subject>
</coding>
</valueCodeableConcept>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</valueCodeableConcept>
</Observation>
</resource>
</request>
</entry>
<fullUrl value="http://example.org/fhir/Observation/Observation-NoFirstTrimesterFetalAnomalies-Example" />
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</valueCodeableConcept>
</coding>
</code>
</component>
</Observation>
</resource>
</request>
</entry>
<fullUrl value="http://example.org/fhir/Observation/Observation-NoSecondTrimesterFetalAnomalies-Example" />
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</valueCodeableConcept>
</coding>
</code>
</component>
</Observation>
</resource>
</request>
</entry>
<Procedure>
</coding>
</code>
</identifier>
</subject>
</note>
</Procedure>
</resource>
</request>
</entry>
<Specimen>
</identifier>
</coding>
</type>
</identifier>
</subject>
</request>
</coding>
</additiveCodeableConcept>
</container>
</Specimen>
</resource>
</request>
</entry>
<Specimen>
</identifier>
</coding>
</type>
</identifier>
</subject>
</request>
</container>
</Specimen>
</resource>
</request>
</entry>
<RelatedPerson>
</identifier>
</identifier>
</assigner>
</identifier>
</patient>
</coding>
</relationship>
</RelatedPerson>
</resource>
</request>
</entry>
<fullUrl value="http://example.org/fhir/RelatedPerson/RelatedPerson-RyanneBoulderPartner-Example" />
<RelatedPerson>
</identifier>
</assigner>
</identifier>
</identifier>
</assigner>
</identifier>
</patient>
</coding>
</relationship>
</RelatedPerson>
</resource>
</request>
</entry>
</Bundle>
Bundle-NonWGSTestOrderForm-Reanalysis-Example
Example of a Non-WGS test request sent to the central broker, as described in the Clinical Scenario:
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| Bundle |
| id : Bundle-NonWGSTestOrderForm-Reanalysis-Example |
| type : transaction |
| entry |
| fullUrl : http://example.org/fhir/PractitionerRole/PractitionerRole-HazelSmithRenal-Example |
| resource |
| id : PractitionerRole-HazelSmithRenal-Example |
| practitioner |
| identifier |
| system : https://fhir.nhs.uk/Id/sds-user-id |
| value : 9999999998 |
| display : Dr. Hazel Smith |
| organization |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX01 |
| display : Kingston Hospital NHS Foundation Trust |
| specialty |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode |
| code : 361 |
| display : Renal Medicine |
| telecom |
| system : phone |
| value : 02085467711 |
| telecom |
| system : email |
| value : Hazel.smith12@nhs.net |
| telecom |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| system : email |
| value : renalseckingston@nhs.net |
| telecom |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| system : email |
| value : neuroseckingston@nhs.net |
| request |
| method : POST |
| url : PractitionerRole |
| entry |
| fullUrl : http://example.org/fhir/Patient/Patient-DemeizaSeo-Example |
| resource |
| id : Patient-DemeizaSeo-Example |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex |
| value |
| coding |
| system : http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender |
| code : F |
| display : Female |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-EthnicCategory |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-EthnicCategoryEngland |
| code : R |
| display : Other Ethnic Groups - Chinese |
| identifier |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland |
| version : 1.1.1 |
| code : 01 |
| display : Number present and verified |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449306559 |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : RWT16378 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| name |
| family : Seo |
| given : Demeiza |
| birthDate : 2011-01-26 |
| deceased : False |
| address |
| line : 1 Aragon Avenue, |
| line : Thames Ditton |
| city : Surrey |
| postalCode : KT7 0PY |
| generalPractitioner |
| identifier |
| system : https://fhir.hl7.org.uk/Id/gmp-number |
| value : G9999999 |
| display : Dr. Aero Smith |
| generalPractitioner |
| identifier |
| system : https://fhir.hl7.org.uk/Id/ODS-code |
| value : TP123 |
| display : 123 Test Practice |
| link |
| other |
| reference : https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307559 |
| type : seealso |
| request |
| method : POST |
| url : Patient |
| ifNoneExist : Patient?identifier=https://fhir.nhs.uk/Id/nhs-number|9449307559 |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-GenomicEthnicity-Example |
| resource |
| id : Observation-GenomicEthnicity-Example |
| status : preliminary |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 723621000000103 |
| display : Ethnicity |
| subject |
| reference : Patient/Patient-DemeizaSeo-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307559 |
| value : unknown |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-ReAnalysis-Example |
| resource |
| id : ServiceRequest-NonWGSTestOrderForm-ReAnalysis-Example |
| 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 |
| basedOn |
| reference : ServiceRequest/ServiceRequest-NonWGSTestOrderForm-SyndromicEpilepsy-Example |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics |
| code : reanalysis |
| display : Re-analysis |
| text : Significant new treatment and or clinical management implication for the patient.Please provide details/treatment for management of epilepsy |
| 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 : GT192 |
| display : Reanalysis of existing data |
| subject |
| reference : Patient/Patient-DemeizaSeo-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449306559 |
| authoredOn : 2023-09-06T09:00:00Z |
| requester |
| reference : PractitionerRole/PractitionerRole-HazelSmithRenal-Example |
| reasonCode |
| coding |
| extension |
| url : https://fhir.nhs.uk/England/StructureDefinition/Extension-GenomicTestCode-Version |
| value : 1.0 |
| system : https://fhir.nhs.uk/CodeSystem/England-DigitalGenomicTestService |
| code : TP459 |
| display : Paediatric disorders |
| supportingInfo |
| reference : Observation/Observation-GenomicEthnicity-Example |
| supportingInfo |
| reference : Condition/Condition-MonogenicHearingLoss-Example |
| supportingInfo |
| reference : Observation/Observation-NoPregnancy-Example |
| supportingInfo |
| reference : Observation/Observation-NonConsanguinousUnion-Example |
| supportingInfo |
| reference : Observation/Observation-NoBoneMarrowTransplant-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransfusion-Example |
| specimen |
| display : No Sample Required |
| note |
| text : No family history of genomic testing |
| note |
| text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/E.g. Reanlaysis - change in observed phenotype. Epilepsy test previously ordered on patient 5 years ago. |
| request |
| method : POST |
| url : ServiceRequest |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-NoPregnancy-Example |
| resource |
| id : Observation-NoPregnancy-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 60001007 |
| display : Not pregnant |
| subject |
| reference : Patient/Patient-DemeizaSeo-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307559 |
| effective : 2023-09-06 |
| 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 |
| reference : Patient/Patient-DemeizaSeo-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307559 |
| 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 |
| reference : Patient/Patient-DemeizaSeo-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307559 |
| effective : 2023-09-06 |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 260385009 |
| display : Negative |
| 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 |
| subject |
| reference : Patient/Patient-DemeizaSeo-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307559 |
| effective : 2023-08-05 |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 445715009 |
| display : Blood and marrow transplantation |
| 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 |
| reference : Patient/Patient-DemeizaSeo-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307559 |
| effective : 2023-09-06 |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 303955003 |
| display : Transfusion - action |
| request |
| method : POST |
| url : Observation |
{
{
},
},
},
},
{
{
}
]
}
],
{
},
{
},
{
{
}
],
},
{
{
}
],
}
]
},
}
},
{
{
{
}
]
}
},
{
{
}
]
}
}
],
{
{
{
}
]
}
}
],
},
{
}
}
],
],
],
{
},
},
{
},
}
],
{
},
}
]
},
}
},
{
]
},
}
},
},
}
},
{
"fullUrl": "http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-ReAnalysis-Example",
{
{
}
]
}
}
],
],
{
{
}
],
"text": "Significant new treatment and or clinical management implication for the patient.Please provide details/treatment for management of epilepsy"
}
],
{
{
}
],
}
]
},
}
},
},
{
{
{
}
],
}
]
}
],
{
},
{
},
{
},
{
},
{
},
{
}
],
],
{
},
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/E.g. Reanlaysis - change in observed phenotype. Epilepsy test previously ordered on patient 5 years ago. "
}
]
},
}
},
{
},
}
},
},
}
},
{
{
}
]
},
{
}
]
},
{
}
]
},
}
}
},
}
},
{
{
}
]
},
}
},
}
},
}
},
{
]
},
}
},
{
}
]
}
},
}
},
{
]
},
}
},
]
}
},
}
}
]
}
<fullUrl value="http://example.org/fhir/PractitionerRole/PractitionerRole-HazelSmithRenal-Example" />
<PractitionerRole>
</identifier>
</practitioner>
</identifier>
</organization>
</coding>
</specialty>
</telecom>
</telecom>
</extension>
</telecom>
</extension>
</telecom>
</PractitionerRole>
</resource>
</request>
</entry>
<Patient>
</coding>
</valueCodeableConcept>
</extension>
</coding>
</valueCodeableConcept>
</extension>
<extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus">
</coding>
</valueCodeableConcept>
</extension>
</identifier>
</identifier>
</assigner>
</identifier>
</name>
</address>
</identifier>
</generalPractitioner>
</identifier>
</generalPractitioner>
</other>
</link>
</Patient>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</Observation>
</resource>
</request>
</entry>
<fullUrl value="http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-ReAnalysis-Example" />
<ServiceRequest>
</coding>
</valueCodeableConcept>
</extension>
</basedOn>
</coding>
<text value="Significant new treatment and or clinical management implication for the patient.Please provide details/treatment for management of epilepsy" />
</category>
</extension>
</coding>
</code>
</identifier>
</subject>
</requester>
</extension>
</coding>
</reasonCode>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</specimen>
</note>
<text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/E.g. Reanlaysis - change in observed phenotype. Epilepsy test previously ordered on patient 5 years ago. " />
</note>
</ServiceRequest>
</resource>
</request>
</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>
</Bundle>
Bundle-WGSTestOrderForm-Example
Example of a WGS test request sent to the central broker, as described in the Clinical Scenario: WGS Test Request - Rare Disease.
| Bundle |
| id : Bundle-WGSTestOrderForm-Example |
| type : transaction |
| entry |
| fullUrl : http://example.org/fhir/PractitionerRole/PractitionerRole-HazelSmithRenal-Example |
| resource |
| id : PractitionerRole-HazelSmithRenal-Example |
| practitioner |
| identifier |
| system : https://fhir.nhs.uk/Id/sds-user-id |
| value : 9999999998 |
| display : Dr. Hazel Smith |
| organization |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX01 |
| display : Kingston Hospital NHS Foundation Trust |
| specialty |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode |
| code : 361 |
| display : Renal Medicine |
| telecom |
| system : phone |
| value : 02085467711 |
| telecom |
| system : email |
| value : Hazel.smith12@nhs.net |
| telecom |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| system : email |
| value : renalseckingston@nhs.net |
| 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 |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland |
| version : 1.1.1 |
| code : 01 |
| display : Number present and verified |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| 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 |
| family : Sorrell |
| given : Lindsay |
| 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.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 : GT497 |
| display : Cystic renal disease - WGS |
| 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 |
| extension |
| url : https://fhir.nhs.uk/England/StructureDefinition/Extension-GenomicTestCode-Version |
| value : 1.0 |
| system : https://fhir.nhs.uk/CodeSystem/England-DigitalGenomicTestService |
| code : TP171 |
| display : Cystic renal disease |
| supportingInfo |
| reference : Condition/Condition-MonogenicHearingLoss-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 |
| 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/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 |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| 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 |
| 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 : 260385009 |
| display : Negative |
| 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 |
| 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 : 445715009 |
| display : Blood and marrow transplantation |
| 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 |
| 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 : 303955003 |
| display : Transfusion - action |
| 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 |
| coding |
| system : http://snomed.info/sct |
| code : 2667000 |
| display : Absent |
| 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 |
| coding |
| system : http://snomed.info/sct |
| code : 2667000 |
| display : Absent |
| 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 |
| coding |
| system : http://snomed.info/sct |
| code : 2667000 |
| display : Absent |
| 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 |
| coding |
| system : http://snomed.info/sct |
| code : 52101004 |
| display : Present |
| 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 |
| coding |
| system : http://snomed.info/sct |
| code : 52101004 |
| display : Present |
| 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 : 119297000 |
| display : Blood specimen |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| request |
| reference : ServiceRequest/ServiceRequest-WGSTestOrderForm-Example |
| container |
| additive |
| coding |
| system : http://snomed.info/sct |
| code : 69519002 |
| display : EDTA |
| 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 |
{
{
},
},
},
},
{
{
}
]
}
],
{
},
{
},
{
{
}
],
}
]
},
}
},
{
{
{
}
]
}
},
{
{
}
]
}
}
],
{
{
{
}
]
}
}
],
},
{
}
}
],
],
],
{
},
},
{
},
}
],
{
},
}
]
},
}
},
{
]
},
}
},
},
}
},
{
{
{
}
]
}
}
],
{
{
}
]
}
],
{
{
}
],
}
]
},
}
},
},
{
{
{
}
],
}
]
}
],
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
}
],
{
},
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ Patient diagnoses with ADPKD (example)"
}
]
},
}
},
{
},
}
},
},
}
},
{
{
}
]
},
{
}
]
},
{
}
]
},
}
}
},
}
},
{
{
}
]
},
}
},
}
},
}
},
{
]
},
}
},
{
}
]
}
},
}
},
{
]
},
}
},
]
}
},
}
},
{
{
}
]
},
}
},
}
},
}
},
{
{
}
]
},
}
},
}
},
}
},
{
{
}
]
},
}
},
}
},
}
},
{
{
}
]
},
}
},
}
},
}
},
{
{
}
]
},
}
},
}
},
}
},
{
],
]
},
}
},
],
{
}
}
]
},
}
},
{
{
}
]
},
{
{
}
]
}
],
{
"uri": "https://www.england.nhs.uk/publication/nhs-genomic-medicine-service-record-of-discussion-form"
}
],
{
}
}
]
}
},
}
}
]
}
<fullUrl value="http://example.org/fhir/PractitionerRole/PractitionerRole-HazelSmithRenal-Example" />
<PractitionerRole>
</identifier>
</practitioner>
</identifier>
</organization>
</coding>
</specialty>
</telecom>
</telecom>
</extension>
</telecom>
</PractitionerRole>
</resource>
</request>
</entry>
<Patient>
</coding>
</valueCodeableConcept>
</extension>
</coding>
</valueCodeableConcept>
</extension>
<extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus">
</coding>
</valueCodeableConcept>
</extension>
</identifier>
</identifier>
</assigner>
</identifier>
</name>
</address>
</identifier>
</generalPractitioner>
</identifier>
</generalPractitioner>
</other>
</link>
</Patient>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</Observation>
</resource>
</request>
</entry>
<ServiceRequest>
</coding>
</valueCodeableConcept>
</extension>
</coding>
</category>
</extension>
</coding>
</code>
</identifier>
</subject>
</requester>
</extension>
</coding>
</reasonCode>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</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 diagnoses with ADPKD (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>
<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>
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</valueCodeableConcept>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</valueCodeableConcept>
</Observation>
</resource>
</request>
</entry>
<Specimen>
</identifier>
</coding>
</type>
</identifier>
</subject>
</request>
</coding>
</additiveCodeableConcept>
</container>
</Specimen>
</resource>
</request>
</entry>
<Consent>
</coding>
</scope>
</coding>
</category>
<uri value="https://www.england.nhs.uk/publication/nhs-genomic-medicine-service-record-of-discussion-form" />
</policy>
</reference>
</data>
</provision>
</Consent>
</resource>
</request>
</entry>
</Bundle>
Bundle-WGSRoD-Example
Example of a consent resource with attached Record of Discussion form, as described in the Clinical Scenario: WGS Test Request - Rare Disease.
| Bundle |
| id : Bundle-WGSRoD-Example |
| type : transaction |
| entry |
| fullUrl : http://example.org/fhir/Consent/Consent-RoDToFollow-Example |
| resource |
| id : Consent-RoDToFollow-Example |
| status : active |
| scope |
| coding |
| system : http://terminology.hl7.org/CodeSystem/consentscope |
| code : research |
| display : Research |
| category |
| coding |
| system : http://terminology.hl7.org/CodeSystem/consentcategorycodes |
| code : research |
| display : Research Information Access |
| source |
| reference : QuestionnaireResponse/QuestionnaireResponse-RoD-Example |
| policy |
| authority : https://www.england.nhs.uk |
| uri : https://www.england.nhs.uk/publication/nhs-genomic-medicine-service-record-of-discussion-form |
| provision |
| data |
| meaning : instance |
| reference |
| reference : ServiceRequest/ServiceRequest-WGSTestOrderForm-Example |
| request |
| method : PUT |
| url : Consent/Consent-RoDToFollow-Example |
| entry |
| fullUrl : http://example.org/fhir/QuestionnaireResponse/QuestionnaireResponse-RoD-Example |
| resource |
| id : QuestionnaireResponse-RoD-Example |
| questionnaire : https://fhir.nhs.uk/Questionnaire/NHSDigital-Questionnaire-Genomics-Example |
| status : completed |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| authored : 2023-08-21 |
| author |
| identifier |
| system : https://fhir.nhs.uk/Id/sds-role-profile-id |
| value : 9999999996 |
| display : Test AHP |
| source |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| item |
| linkId : patientDetails |
| text : Patient Details |
| item |
| linkId : givenName |
| text : First Name |
| answer |
| value : Lindsay |
| item |
| linkId : familyName |
| text : Last Name |
| answer |
| value : Sorrell |
| item |
| linkId : nhs_Number |
| text : NHS number (or postcode if not not known) |
| answer |
| value : 944 9307 946 |
| item |
| linkId : birthDate |
| text : Date of Birth |
| answer |
| value : 2011-04-12 |
| item |
| linkId : declaration4 |
| text : Confirmation of Your Genomic Test and Research Choices |
| item |
| linkId : confirmation |
| text : I confirm that I have had the opportunity to discuss information about genomic testing, I agree to the genomic test, and my research choice is indicated below. |
| item |
| linkId : researchConfirmation1 |
| text : I have discussed taking part in the National Genomic Research Library. If your answer to A is NO then please ignore B and sign directly below |
| answer |
| value : True |
| item |
| linkId : researchConfirmation2 |
| text : I agree that my data and remainder sample may contribute to the National Genomic Research Library |
| answer |
| value : True |
| item |
| linkId : isRespondentAttorney |
| text : Are you completing this form on behalf of someone? |
| answer |
| value : False |
| item |
| linkId : patientValidation |
| text : Patient Validation |
| item |
| linkId : patientNamecombined |
| text : Patient Name |
| answer |
| value : Mr. Lindsay Sorrell |
| item |
| linkId : patientSignature |
| text : Signature |
| answer |
| value : NA |
| item |
| linkId : datePatientCompletedForm |
| text : Date |
| answer |
| value : 2023-08-21 |
| item |
| linkId : declaration5 |
| text : Healthcare professional use only |
| item |
| linkId : healthcareProfessional |
| text : To be completed by the healthcare professional recording the patient’s choices. |
| item |
| linkId : patientCategory |
| text : Patient category |
| answer |
| value |
| system : https://fhir.nhs.uk/CodeSystem/patient-choice-category-genomics |
| code : adult-own-choice |
| display : Adult(made their own choice) |
| item |
| linkId : testType |
| text : Test type |
| answer |
| value |
| system : https://fhir.nhs.uk/CodeSystem/test-type-genomics |
| code : RID-WGS |
| display : Rare and Inherited Diseases - WGS |
| item |
| linkId : remoteConsent |
| text : Remote consent, recorded remotely by clinician, no patient signature |
| answer |
| value : True |
| item |
| linkId : responsibleClinician |
| text : Responsible clinician |
| answer |
| value : Dr Hazel Smith |
| item |
| linkId : patientMRN |
| text : Hospital number |
| answer |
| value : RWT14789 |
| item |
| linkId : healthcareProfessionalName |
| text : Healthcare professional name |
| answer |
| value : Test AHP |
| item |
| linkId : healthcareProfessionalSignature |
| text : Signature |
| answer |
| value : Dr. Hazel Smith |
| item |
| linkId : datehealthcareProfessionalCompletedForm |
| text : Date |
| answer |
| value : 2023-08-21 |
| request |
| method : POST |
| url : QuestionnaireResponse |
{
{
{
}
]
},
{
{
}
]
}
],
},
{
"uri": "https://www.england.nhs.uk/publication/nhs-genomic-medicine-service-record-of-discussion-form"
}
],
{
}
}
]
}
},
}
},
{
}
},
},
},
}
},
{
{
},
{
},
{
]
},
{
}
]
},
{
{
"text": "I confirm that I have had the opportunity to discuss information about genomic testing, I agree to the genomic test, and my research choice is indicated below.",
{
"text": "I have discussed taking part in the National Genomic Research Library. If your answer to A is NO then please ignore B and sign directly below",
]
},
{
"text": "I agree that my data and remainder sample may contribute to the National Genomic Research Library",
]
}
]
}
]
},
{
]
},
{
{
]
},
{
},
{
]
}
]
},
{
{
{
{
}
}
]
},
{
{
}
}
]
},
{
]
},
{
]
},
{
},
{
]
},
{
]
},
{
]
}
]
}
]
}
]
},
}
}
]
}
<Consent>
</coding>
</scope>
</coding>
</category>
</sourceReference>
<uri value="https://www.england.nhs.uk/publication/nhs-genomic-medicine-service-record-of-discussion-form" />
</policy>
</reference>
</data>
</provision>
</Consent>
</resource>
</request>
</entry>
<QuestionnaireResponse>
<questionnaire value="https://fhir.nhs.uk/Questionnaire/NHSDigital-Questionnaire-Genomics-Example" />
</identifier>
</subject>
</identifier>
</author>
</identifier>
</source>
</answer>
</item>
</answer>
</item>
</answer>
</item>
</answer>
</item>
</item>
<text value="I confirm that I have had the opportunity to discuss information about genomic testing, I agree to the genomic test, and my research choice is indicated below." />
<text value="I have discussed taking part in the National Genomic Research Library. If your answer to A is NO then please ignore B and sign directly below" />
</answer>
</item>
<text value="I agree that my data and remainder sample may contribute to the National Genomic Research Library" />
</answer>
</item>
</item>
</item>
</answer>
</item>
</answer>
</item>
</answer>
</item>
</answer>
</item>
</item>
</valueCoding>
</answer>
</item>
</valueCoding>
</answer>
</item>
</answer>
</item>
</answer>
</item>
</answer>
</item>
</answer>
</item>
</answer>
</item>
</answer>
</item>
</item>
</item>
</QuestionnaireResponse>
</resource>
</request>
</entry>
</Bundle>
Bundle-TransactionResponseError-Example
Example of a transaction-response bundle logging an error with a resource.
| Bundle |
| id : Bundle-TransactionResponseError-Example |
| meta |
| lastUpdated : 2024-01-30T12:01:24+00:00 |
| type : transaction-response |
| entry |
| response |
| status : 422 Unprocessable Entity |
| outcome |
| meta |
| lastUpdated : 2024-01-30T12:01:24+00:00 |
| issue |
| severity : error |
| code : processing |
| details |
| coding |
| system : http://terminology.hl7.org/CodeSystem/operation-outcome |
| code : MSG_LOCAL_FAIL |
| display : Unable to resolve local reference to resource Patient/Patient-MeirLieberman-Example |
| diagnostics : Validation errors occurred during processing |
| location : Bundle.entry[1].resource.ofType(ServiceRequest) |
| entry |
| response |
| status : 200 OK |
| lastModified : 2024-01-30T12:01:24+00:00 |
| outcome |
| meta |
| lastUpdated : 2024-01-30T12:01:24+00:00 |
| issue |
| severity : information |
| code : informational |
| diagnostics : No issues detected during validation. Resource not created as request transaction contains an error |
| location : Bundle.entry[1].resource.ofType(Patient) |
{
},
{
},
{
{
}
]
},
"Bundle.entry[1].resource.ofType(ServiceRequest)"
]
}
]
}
}
},
{
},
{
"diagnostics": "No issues detected during validation. Resource not created as request transaction contains an error",
"Bundle.entry[1].resource.ofType(Patient)"
]
}
]
}
}
}
]
}
</meta>
<OperationOutcome>
</meta>
<display value="Unable to resolve local reference to resource Patient/Patient-MeirLieberman-Example" />
</coding>
</details>
</issue>
</OperationOutcome>
</outcome>
</response>
</entry>
<OperationOutcome>
</meta>
<diagnostics value="No issues detected during validation. Resource not created as request transaction contains an error" />
</issue>
</OperationOutcome>
</outcome>
</response>
</entry>
</Bundle>
Bundle-TransactionResponseSuccess-Example
Example of a transaction-response bundle logging successful creation of multiple resources.
| Bundle |
| id : Bundle-TransactionResponseSuccess-Example |
| meta |
| lastUpdated : 2024-01-30T12:01:24+00:00 |
| type : transaction-response |
| entry |
| fullUrl : https://api.service.nhs.uk/genomic-order-management-service/FHIR/R4/ServiceRequest/4d70678c-81e4-4ff4-8c67-17596fd0aa46 |
| resource |
| id : 4d70678c-81e4-4ff4-8c67-17596fd0aa46 |
| 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 |
| reference : Patient/e87361ea-b6fb-482e-a252-af3199792582 |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307873 |
| authoredOn : 2023-08-05 |
| requester |
| reference : PractitionerRole/bbc46b47-42eb-41e5-bee4-efb2d3154254 |
| 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 |
| 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 |
| response |
| status : 201 Created |
| location : ServiceRequest/4d70678c-81e4-4ff4-8c67-17596fd0aa46/ |
| lastModified : 2024-01-30T12:01:24+00:00 |
| outcome |
| meta |
| lastUpdated : 2024-01-30T12:01:24+00:00 |
| issue |
| severity : information |
| code : informational |
| diagnostics : No issues detected during validation. |
| entry |
| fullUrl : https://api.service.nhs.uk/genomic-order-management-service/FHIR/R4/Patient/e87361ea-b6fb-482e-a252-af3199792582 |
| resource |
| id : e87361ea-b6fb-482e-a252-af3199792582 |
| 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 |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland |
| version : 1.1.1 |
| code : 01 |
| display : Number present and verified |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307873 |
| 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 |
| name |
| family : Lieberman |
| given : Meir |
| given : Anah |
| 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 |
| response |
| status : 201 Created |
| location : Patient/e87361ea-b6fb-482e-a252-af3199792582/ |
| lastModified : 2024-01-30T12:01:24+00:00 |
| outcome |
| meta |
| lastUpdated : 2024-01-30T12:01:24+00:00 |
| issue |
| severity : information |
| code : informational |
| diagnostics : No issues detected during validation. |
{
},
{
"fullUrl": "https://api.service.nhs.uk/genomic-order-management-service/FHIR/R4/ServiceRequest/4d70678c-81e4-4ff4-8c67-17596fd0aa46",
{
{
}
]
}
}
],
{
{
}
]
}
],
{
{
}
],
}
]
},
}
},
},
{
{
{
}
],
}
]
}
],
{
},
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/Patient in need of test...example"
}
]
},
},
{
}
]
}
}
},
{
"fullUrl": "https://api.service.nhs.uk/genomic-order-management-service/FHIR/R4/Patient/e87361ea-b6fb-482e-a252-af3199792582",
{
{
}
]
}
},
{
{
}
]
}
}
],
{
{
{
}
]
}
}
],
},
{
}
}
],
],
],
{
},
},
{
},
}
],
{
},
}
]
},
},
{
}
]
}
}
}
]
}
</meta>
<fullUrl value="https://api.service.nhs.uk/genomic-order-management-service/FHIR/R4/ServiceRequest/4d70678c-81e4-4ff4-8c67-17596fd0aa46" />
<ServiceRequest>
</coding>
</valueCodeableConcept>
</extension>
</coding>
</category>
</extension>
</coding>
</code>
</identifier>
</subject>
</requester>
</extension>
</coding>
</reasonCode>
</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>
<OperationOutcome>
</meta>
</issue>
</OperationOutcome>
</outcome>
</response>
</entry>
<fullUrl value="https://api.service.nhs.uk/genomic-order-management-service/FHIR/R4/Patient/e87361ea-b6fb-482e-a252-af3199792582" />
<Patient>
</coding>
</valueCodeableConcept>
</extension>
</coding>
</valueCodeableConcept>
</extension>
<extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus">
</coding>
</valueCodeableConcept>
</extension>
</identifier>
</identifier>
</assigner>
</identifier>
</name>
</address>
</identifier>
</generalPractitioner>
</identifier>
</generalPractitioner>
</other>
</link>
</Patient>
</resource>
<OperationOutcome>
</meta>
</issue>
</OperationOutcome>
</outcome>
</response>
</entry>
</Bundle>
Bundle-Searchset-Example
Example of a searchset bundle returned in response to a search query on Specimen. This example has a single match and also returns a Patient resource as specified in the query's _incldue parameter.
| Bundle |
| id : Bundle-Searchset-Example |
| meta |
| lastUpdated : 2024-05-31T15:27:00.009+00:00 |
| type : searchset |
| total : 1 |
| link |
| relation : self |
| url : https://api.service.nhs.uk/genomic-order-management-service/FHIR/R4/?_include=Specimen%3Asubject&identifier=RGT03135 |
| entry |
| fullUrl : https://api.service.nhs.uk/genomic-order-management-service/FHIR/R4/Specimen/44707473 |
| resource |
| id : 44707473 |
| meta |
| versionId : 1 |
| lastUpdated : 2024-05-13T14:28:05.843+00:00 |
| source : #CJ6XJLTGD315XL2Z |
| 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 : Patient/44707475 |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| request |
| reference : ServiceRequest/ServiceRequest-NonWGSTestOrderForm-Example |
| search |
| mode : match |
| entry |
| fullUrl : https://api.service.nhs.uk/genomic-order-management-service/FHIR/R4/Patient/44707475 |
| resource |
| id : 44707475 |
| meta |
| versionId : 1 |
| lastUpdated : 2024-05-13T14:28:05.843+00:00 |
| source : #CJ6XJLTGD315XL2Z |
| 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 |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland |
| version : 1.1.1 |
| code : 01 |
| display : Number present and verified |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| 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 |
| family : Sorrell |
| given : Lindsay |
| gender : male |
| birthDate : 2011-04-12 |
| deceased : False |
| address |
| line : 31 THE AVENUE |
| line : BERWICK COURT |
| postalCode : KT4 7BS |
| generalPractitioner |
| identifier |
| system : https://fhir.hl7.org.uk/Id/gmp-number |
| value : G9999999 |
| display : Dr. Aero Smith |
| generalPractitioner |
| identifier |
| system : https://fhir.hl7.org.uk/Id/ODS-code |
| value : AP123 |
| display : anywhere place |
| link |
| other |
| reference : https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307946 |
| type : seealso |
| search |
| mode : include |
{
},
{
"url": "https://api.service.nhs.uk/genomic-order-management-service/FHIR/R4/?_include=Specimen%3Asubject&identifier=RGT03135"
}
],
{
},
],
]
},
}
},
]
},
}
},
{
},
{
{
}
]
}
},
{
{
}
]
}
}
],
{
{
{
}
]
}
}
],
},
{
}
}
],
],
],
{
},
},
{
},
}
],
{
},
}
]
},
}
}
]
}
</meta>
<url value="https://api.service.nhs.uk/genomic-order-management-service/FHIR/R4/?_include=Specimen%3Asubject&identifier=RGT03135" />
</link>
<fullUrl value="https://api.service.nhs.uk/genomic-order-management-service/FHIR/R4/Specimen/44707473" />
<Specimen>
</meta>
</identifier>
</coding>
</type>
</identifier>
</subject>
</request>
</Specimen>
</resource>
</search>
</entry>
<fullUrl value="https://api.service.nhs.uk/genomic-order-management-service/FHIR/R4/Patient/44707475" />
<Patient>
</meta>
</coding>
</valueCodeableConcept>
</extension>
</coding>
</valueCodeableConcept>
</extension>
<extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus">
</coding>
</valueCodeableConcept>
</extension>
</identifier>
</identifier>
</assigner>
</identifier>
</name>
</address>
</identifier>
</generalPractitioner>
</identifier>
</generalPractitioner>
</other>
</link>
</Patient>
</resource>
</search>
</entry>
</Bundle>
Bundle-NonWGSScenario3-FetusAsProband-Example
Example of a Non-WGS test request sent to the central broker, as described in the Clinical Scenario:Fetus Management
| Bundle |
| id : Bundle-NonWGSScenario3-FetusAsProband-Example |
| type : transaction |
| entry |
| fullUrl : urn:uuid:01f81774-4153-4c18-a7df-1c4cdbba4f2f |
| resource |
| id : 01f81774-4153-4c18-a7df-1c4cdbba4f2f |
| practitioner |
| identifier |
| system : https://fhir.nhs.uk/Id/sds-user-id |
| value : 3208835210 |
| display : Dr. Lois Lane |
| organization |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX01 |
| display : Kingston Hospital |
| specialty |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode |
| code : 311 |
| display : Clinical Genetics |
| telecom |
| system : phone |
| value : 02085467711 |
| telecom |
| system : email |
| value : Hazel.smith12@nhs.net |
| telecom |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| system : email |
| value : clinicalgeneticskingston@nhs.net |
| telecom |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| system : email |
| value : fetalmedicinekingston@nhs.net |
| telecom |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| system : email |
| value : gptestpracticekingston@nhs.net |
| request |
| method : POST |
| url : PractitionerRole |
| entry |
| fullUrl : urn:uuid:849705be-9ed3-499c-ab8a-5579dd02d305 |
| resource |
| id : 849705be-9ed3-499c-ab8a-5579dd02d305 |
| extension |
| url : http://hl7.org/fhir/6.0/StructureDefinition/extension-Patient.fetalStatus |
| value : potential-for-live-birth |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : Fetus-A-8955713713 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| name |
| family : MUM |
| given : FETUS A |
| gender : unknown |
| request |
| method : POST |
| url : Patient |
| ifNoneExist : Patient?identifier=urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24|Fetus-A-8955713713 |
| entry |
| fullUrl : urn:uuid:d302e6f8-c09f-4153-a669-8fa6b3a95d52 |
| resource |
| id : d302e6f8-c09f-4153-a669-8fa6b3a95d52 |
| extension |
| url : https://fhir.nhs.uk/England/StructureDefinition/Extension-Genomic-Patient-Role |
| value |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/patient-role-genomics |
| code : proband |
| display : Proband |
| extension |
| url : https://fhir.nhs.uk/England/StructureDefinition/Extension-GenomicTest-ParticipantCount |
| value : 2 |
| 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 |
| requisition |
| system : https://fhir.leedssth.nhs.uk//Id/grouptestId |
| value : RR-REQ20262701 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RR8 |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics |
| code : prenatal-diagnosis |
| display : Prenatal diagnosis |
| priority : urgent |
| 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 : GT1133 |
| display : Common aneuploidy testing |
| subject |
| reference : Patient/849705be-9ed3-499c-ab8a-5579dd02d305 |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : Fetus-A-8955713713 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| authoredOn : 2023-09-25 |
| requester |
| reference : PractitionerRole/01f81774-4153-4c18-a7df-1c4cdbba4f2f |
| performer |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : 699N0 |
| 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 : TP289 |
| display : Common aneuploidy testing - prenatal |
| supportingInfo |
| reference : Observation/2a6e7070-5ea2-4ef3-96b6-607b474fcc0b |
| specimen |
| reference : Specimen/9fa291ba-d9a4-46a9-87e5-486bcaae47fa |
| note |
| text : Samples are to be provided at a later date |
| note |
| text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder |
| request |
| method : POST |
| url : ServiceRequest |
| entry |
| fullUrl : urn:uuid:2a6e7070-5ea2-4ef3-96b6-607b474fcc0b |
| resource |
| id : 2a6e7070-5ea2-4ef3-96b6-607b474fcc0b |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 160475008 |
| display : Family history of consanguinity |
| subject |
| reference : Patient/849705be-9ed3-499c-ab8a-5579dd02d305 |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : Fetus-A-8955713713 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| effective : 2023-09-25 |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 260385009 |
| display : Negative |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : urn:uuid:9fa291ba-d9a4-46a9-87e5-486bcaae47fa |
| resource |
| id : 9fa291ba-d9a4-46a9-87e5-486bcaae47fa |
| identifier |
| system : https://fhir.add.nhs.uk/Id/specimenId |
| value : RGT70280930 |
| status : unavailable |
| type |
| coding |
| system : http://snomed.info/sct |
| code : 258565009 |
| display : Chorionic villi specimen |
| subject |
| reference : Patient/849705be-9ed3-499c-ab8a-5579dd02d305 |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : Fetus-A-8955713713 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| request |
| reference : ServiceRequest/d302e6f8-c09f-4153-a669-8fa6b3a95d52 |
| request |
| method : POST |
| url : Specimen |
| entry |
| fullUrl : urn:uuid:e302e6f8-c09f-4153-a669-8fa6b3a95d53 |
| resource |
| id : e302e6f8-c09f-4153-a669-8fa6b3a95d53 |
| extension |
| url : https://fhir.nhs.uk/England/StructureDefinition/Extension-Genomic-Patient-Role |
| value |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/patient-role-genomics |
| code : consultand |
| display : Consultand |
| 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 |
| requisition |
| system : https://fhir.leedssth.nhs.uk//Id/grouptestId |
| value : RR-REQ20262701 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RR8 |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics |
| code : diagnostic |
| display : Diagnostic |
| priority : urgent |
| 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 : GT1133 |
| display : Common aneuploidy testing |
| subject |
| reference : Patient/51008c44-551e-4272-a2a8-36f7d5363c9c |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449308322 |
| authoredOn : 2026-01-27 |
| requester |
| reference : PractitionerRole/01f81774-4153-4c18-a7df-1c4cdbba4f2f |
| performer |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : 699N0 |
| 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 : TP289 |
| display : Common aneuploidy testing - prenatal |
| supportingInfo |
| reference : Observation/2f4ef82c-3125-4ebf-8d5e-e19b86ea47c6 |
| supportingInfo |
| reference : Observation/b32f8456-be57-4f67-ade3-97a3a6cbda0a |
| supportingInfo |
| reference : Observation/9080a716-c023-46c1-b479-b669074f4b3e |
| supportingInfo |
| reference : Observation/7c3a876d-3e62-42e1-8fcf-2c233eba8289 |
| supportingInfo |
| reference : Observation/41654044-afd4-4b5d-add5-16afc73f97a5 |
| supportingInfo |
| reference : Procedure/1ee371f7-00c5-4787-a910-89dc42cbbf47 |
| supportingInfo |
| reference : RelatedPerson/6473db02-3c45-42f0-9b8c-9d063753f86b |
| note |
| text : Samples are to be provided at a later date |
| note |
| text : No family history of relevant testing |
| note |
| text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder |
| request |
| method : POST |
| url : ServiceRequest |
| entry |
| fullUrl : urn:uuid:2f4ef82c-3125-4ebf-8d5e-e19b86ea47c6 |
| resource |
| id : 2f4ef82c-3125-4ebf-8d5e-e19b86ea47c6 |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 161743003 |
| display : Past pregnancy history of stillbirth |
| text : Is the testing for a fetal loss from 24+0 or more weeks of gestation? |
| subject |
| reference : Patient/51008c44-551e-4272-a2a8-36f7d5363c9c |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449308322 |
| effective : 2023-09-25 |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 260385009 |
| display : Negative |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : urn:uuid:b32f8456-be57-4f67-ade3-97a3a6cbda0a |
| resource |
| id : b32f8456-be57-4f67-ade3-97a3a6cbda0a |
| status : preliminary |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 723621000000103 |
| display : Ethnicity |
| subject |
| reference : Patient/51008c44-551e-4272-a2a8-36f7d5363c9c |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449308322 |
| value : unknown |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : urn:uuid:9080a716-c023-46c1-b479-b669074f4b3e |
| resource |
| id : 9080a716-c023-46c1-b479-b669074f4b3e |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 77386006 |
| display : Pregnancy |
| subject |
| reference : Patient/51008c44-551e-4272-a2a8-36f7d5363c9c |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449308322 |
| effective : 2023-09-25 |
| component |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 720451000000102 |
| display : Assisted conception |
| component |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 226081000000107 |
| display : Gestational age |
| value |
| value : 87 |
| unit : day |
| system : http://unitsofmeasure.org |
| code : d |
| component |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 161714006 |
| display : Estimated date of delivery |
| value : 2024-05-01 |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : urn:uuid:7c3a876d-3e62-42e1-8fcf-2c233eba8289 |
| resource |
| id : 7c3a876d-3e62-42e1-8fcf-2c233eba8289 |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 416128008 |
| display : No history of procedure |
| subject |
| reference : Patient/51008c44-551e-4272-a2a8-36f7d5363c9c |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449308322 |
| effective : 2023-09-25 |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 263903005 |
| display : Transplant |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : urn:uuid:41654044-afd4-4b5d-add5-16afc73f97a5 |
| resource |
| id : 41654044-afd4-4b5d-add5-16afc73f97a5 |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 609520005 |
| display : Disorder of fetal structure |
| text : First Trimester Anomalies? |
| subject |
| reference : Patient/51008c44-551e-4272-a2a8-36f7d5363c9c |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449308322 |
| effective : 2023-09-25 |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 260385009 |
| display : Negative |
| component |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 255246003 |
| display : First trimester |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : urn:uuid:4512e4e9-9b42-4464-b52f-81e5f7e380b0 |
| resource |
| id : 4512e4e9-9b42-4464-b52f-81e5f7e380b0 |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 609520005 |
| display : Disorder of fetal structure |
| text : Second Trimester Anomalies? |
| subject |
| reference : Patient/51008c44-551e-4272-a2a8-36f7d5363c9c |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449308322 |
| effective : 2023-09-25 |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 260385009 |
| display : Negative |
| component |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 255247007 |
| display : Second trimester |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : urn:uuid:1ee371f7-00c5-4787-a910-89dc42cbbf47 |
| resource |
| id : 1ee371f7-00c5-4787-a910-89dc42cbbf47 |
| status : completed |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 52637005 |
| display : In vitro fertilisation |
| subject |
| reference : Patient/51008c44-551e-4272-a2a8-36f7d5363c9c |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449308322 |
| performed : 2023-09-25 |
| note |
| text : Woman`s own egg |
| request |
| method : POST |
| url : Procedure |
| entry |
| fullUrl : urn:uuid:6473db02-3c45-42f0-9b8c-9d063753f86b |
| resource |
| id : 6473db02-3c45-42f0-9b8c-9d063753f86b |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449308322 |
| patient |
| reference : Patient/849705be-9ed3-499c-ab8a-5579dd02d305 |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : Fetus-A-8955713713 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX01 |
| relationship |
| coding |
| system : http://terminology.hl7.org/CodeSystem/v3-RoleCode |
| code : NMTHF |
| display : natural mother of fetus |
| request |
| method : POST |
| url : RelatedPerson |
{
{
},
},
},
},
{
{
}
]
}
],
{
},
{
},
{
{
}
],
},
{
{
}
],
},
{
{
}
],
}
]
},
}
},
{
{
}
],
{
}
}
],
],
},
}
},
{
{
{
}
]
}
},
{
},
{
{
}
]
}
}
],
}
},
{
{
}
]
}
],
{
{
}
],
}
]
},
}
}
},
},
],
{
{
{
}
],
}
]
}
],
],
],
{
},
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder"
}
]
},
}
},
{
{
}
]
},
}
}
},
}
},
}
},
{
],
]
},
}
}
},
]
},
}
},
{
{
{
}
]
}
},
{
{
}
]
}
}
],
}
},
{
{
}
]
}
],
{
{
}
],
}
]
},
}
},
},
],
{
{
{
}
],
}
]
}
],
{
},
{
},
{
},
{
},
{
},
{
},
{
}
],
{
},
{
},
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder"
}
]
},
}
},
{
{
}
],
},
}
},
}
},
}
},
{
]
},
}
},
},
}
},
{
},
}
},
{
]
}
},
{
]
},
}
},
{
{
}
]
},
}
]
},
}
},
{
]
},
}
},
}
},
}
},
{
{
}
],
},
}
},
},
{
]
}
}
]
},
}
},
{
{
}
],
},
}
},
},
{
]
}
}
]
},
}
},
{
]
},
}
},
]
},
}
},
{
],
}
}
},
{
{
}
]
}
]
},
}
}
]
}
<PractitionerRole>
</identifier>
</practitioner>
</identifier>
</organization>
</coding>
</specialty>
</telecom>
</telecom>
</extension>
</telecom>
</extension>
</telecom>
</extension>
</telecom>
</PractitionerRole>
</resource>
</request>
</entry>
<Patient>
</extension>
</identifier>
</assigner>
</identifier>
</name>
</Patient>
</resource>
<ifNoneExist value="Patient?identifier=urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24|Fetus-A-8955713713" />
</request>
</entry>
<ServiceRequest>
</coding>
</valueCodeableConcept>
</extension>
<extension url="https://fhir.nhs.uk/England/StructureDefinition/Extension-GenomicTest-ParticipantCount">
</extension>
</coding>
</valueCodeableConcept>
</extension>
</identifier>
</assigner>
</requisition>
</coding>
</category>
</extension>
</coding>
</code>
</identifier>
</assigner>
</identifier>
</subject>
</requester>
</identifier>
</performer>
</extension>
</coding>
</reasonCode>
</supportingInfo>
</specimen>
</note>
<text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder" />
</note>
</ServiceRequest>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</assigner>
</identifier>
</subject>
</coding>
</valueCodeableConcept>
</Observation>
</resource>
</request>
</entry>
<Specimen>
</identifier>
</coding>
</type>
</identifier>
</assigner>
</identifier>
</subject>
</request>
</Specimen>
</resource>
</request>
</entry>
<ServiceRequest>
</coding>
</valueCodeableConcept>
</extension>
</coding>
</valueCodeableConcept>
</extension>
</identifier>
</assigner>
</requisition>
</coding>
</category>
</extension>
</coding>
</code>
</identifier>
</subject>
</requester>
</identifier>
</performer>
</extension>
</coding>
</reasonCode>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</note>
</note>
<text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder" />
</note>
</ServiceRequest>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</valueCodeableConcept>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</code>
</component>
</coding>
</code>
</valueQuantity>
</component>
</coding>
</code>
</component>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</valueCodeableConcept>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</valueCodeableConcept>
</coding>
</code>
</component>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</valueCodeableConcept>
</coding>
</code>
</component>
</Observation>
</resource>
</request>
</entry>
<Procedure>
</coding>
</code>
</identifier>
</subject>
</note>
</Procedure>
</resource>
</request>
</entry>
<RelatedPerson>
</identifier>
</identifier>
</assigner>
</identifier>
</patient>
</coding>
</relationship>
</RelatedPerson>
</resource>
</request>
</entry>
</Bundle>
Bundle-NonWGSScenario4-ProbandWithMultipleFetus-Example
Example of a Non-WGS test request sent to the central broker, as described in the Clinical Scenario:Fetus Management
| Bundle |
| id : Bundle-NonWGSScenario4-ProbandWithMultipleFetus-Example |
| type : transaction |
| entry |
| fullUrl : urn:uuid:01f81774-4153-4c18-a7df-1c4cdbba4f2f |
| resource |
| id : 01f81774-4153-4c18-a7df-1c4cdbba4f2f |
| practitioner |
| identifier |
| system : https://fhir.nhs.uk/Id/sds-user-id |
| value : 3208835210 |
| display : Dr. Lois Lane |
| organization |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX01 |
| display : Kingston Hospital |
| specialty |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode |
| code : 311 |
| display : Clinical Genetics |
| telecom |
| system : phone |
| value : 02085467711 |
| telecom |
| system : email |
| value : Hazel.smith12@nhs.net |
| telecom |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| system : email |
| value : clinicalgeneticskingston@nhs.net |
| telecom |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| system : email |
| value : fetalmedicinekingston@nhs.net |
| telecom |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| system : email |
| value : gptestpracticekingston@nhs.net |
| request |
| method : POST |
| url : PractitionerRole |
| entry |
| fullUrl : urn:uuid:849705be-9ed3-499c-ab8a-5579dd02d305 |
| resource |
| id : 849705be-9ed3-499c-ab8a-5579dd02d305 |
| extension |
| url : http://hl7.org/fhir/6.0/StructureDefinition/extension-Patient.fetalStatus |
| value : potential-for-live-birth |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : Fetus-A-8955713713 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| name |
| family : MUM |
| given : FETUS A |
| gender : unknown |
| multipleBirth : True |
| request |
| method : POST |
| url : Patient |
| ifNoneExist : Patient?identifier=urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24|Fetus-A-8955713713 |
| entry |
| fullUrl : urn:uuid:d302e6f8-c09f-4153-a669-8fa6b3a95d52 |
| resource |
| id : d302e6f8-c09f-4153-a669-8fa6b3a95d52 |
| extension |
| url : https://fhir.nhs.uk/England/StructureDefinition/Extension-Genomic-Patient-Role |
| value |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/patient-role-genomics |
| code : proband |
| display : Proband |
| extension |
| url : https://fhir.nhs.uk/England/StructureDefinition/Extension-GenomicTest-ParticipantCount |
| value : 2 |
| 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 |
| requisition |
| system : https://fhir.kingston-hospital-nhs-foundation-trust.nhs.uk/Id/grouptestId |
| value : RR8F20262701-01 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics |
| code : prenatal-diagnosis |
| display : Prenatal diagnosis |
| priority : urgent |
| 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 : GT1133 |
| display : Common aneuploidy testing |
| subject |
| reference : Patient/849705be-9ed3-499c-ab8a-5579dd02d305 |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : Fetus-A-8955713713 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| authoredOn : 2023-09-25 |
| requester |
| reference : PractitionerRole/01f81774-4153-4c18-a7df-1c4cdbba4f2f |
| performer |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : 699N0 |
| 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 : TP289 |
| display : Common aneuploidy testing - prenatal |
| supportingInfo |
| reference : Observation/2a6e7070-5ea2-4ef3-96b6-607b474fcc0b |
| specimen |
| reference : Specimen/9fa291ba-d9a4-46a9-87e5-486bcaae47fa |
| note |
| text : Samples are to be provided at a later date |
| note |
| text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder |
| request |
| method : POST |
| url : ServiceRequest |
| entry |
| fullUrl : urn:uuid:2a6e7070-5ea2-4ef3-96b6-607b474fcc0b |
| resource |
| id : 2a6e7070-5ea2-4ef3-96b6-607b474fcc0b |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 160475008 |
| display : Family history of consanguinity |
| subject |
| reference : Patient/849705be-9ed3-499c-ab8a-5579dd02d305 |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : Fetus-A-8955713713 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| effective : 2023-09-25 |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 260385009 |
| display : Negative |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : urn:uuid:9fa291ba-d9a4-46a9-87e5-486bcaae47fa |
| resource |
| id : 9fa291ba-d9a4-46a9-87e5-486bcaae47fa |
| identifier |
| system : https://fhir.add.nhs.uk/Id/specimenId |
| value : RGT70280930 |
| status : unavailable |
| type |
| coding |
| system : http://snomed.info/sct |
| code : 258565009 |
| display : Chorionic villi specimen |
| subject |
| reference : Patient/849705be-9ed3-499c-ab8a-5579dd02d305 |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : Fetus-A-8955713713 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| request |
| reference : ServiceRequest/d302e6f8-c09f-4153-a669-8fa6b3a95d52 |
| request |
| method : POST |
| url : Specimen |
| entry |
| fullUrl : urn:uuid:6473db02-3c45-42f0-9b8c-9d063753f86b |
| resource |
| id : 6473db02-3c45-42f0-9b8c-9d063753f86b |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449308322 |
| patient |
| reference : Patient/849705be-9ed3-499c-ab8a-5579dd02d305 |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : Fetus-A-8955713713 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| relationship |
| coding |
| system : http://terminology.hl7.org/CodeSystem/v3-RoleCode |
| code : NMTHF |
| display : natural mother of fetus |
| request |
| method : POST |
| url : RelatedPerson |
| entry |
| fullUrl : urn:uuid:a3e24d16-9079-4b07-b406-5c28f05bea8c |
| resource |
| id : a3e24d16-9079-4b07-b406-5c28f05bea8c |
| extension |
| url : http://hl7.org/fhir/6.0/StructureDefinition/extension-Patient.fetalStatus |
| value : potential-for-live-birth |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : Fetus-B-7855713723 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| name |
| family : MUM |
| given : FETUS B |
| gender : unknown |
| multipleBirth : True |
| request |
| method : POST |
| url : Patient |
| ifNoneExist : Patient?identifier=urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24|Fetus-B-7855713723 |
| entry |
| fullUrl : urn:uuid:1b5e2983-3573-4e1a-b5b9-ad646f0f2679 |
| resource |
| id : 1b5e2983-3573-4e1a-b5b9-ad646f0f2679 |
| extension |
| url : https://fhir.nhs.uk/England/StructureDefinition/Extension-Genomic-Patient-Role |
| value |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/patient-role-genomics |
| code : proband |
| display : Proband |
| extension |
| url : https://fhir.nhs.uk/England/StructureDefinition/Extension-GenomicTest-ParticipantCount |
| value : 2 |
| 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 |
| requisition |
| system : https://fhir.kingston-hospital-nhs-foundation-trust.nhs.uk/Id/grouptestId |
| value : RR8F2026-2801-2 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics |
| code : prenatal-diagnosis |
| display : Prenatal diagnosis |
| priority : urgent |
| 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 : GT1133 |
| display : Common aneuploidy testing |
| subject |
| reference : Patient/a3e24d16-9079-4b07-b406-5c28f05bea8c |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : Fetus-B-7855713723 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| authoredOn : 2026-01-27 |
| requester |
| reference : PractitionerRole/01f81774-4153-4c18-a7df-1c4cdbba4f2f |
| performer |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : 699N0 |
| 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 : TP289 |
| display : Common aneuploidy testing - prenatal |
| supportingInfo |
| reference : Observation/6a05db05-0156-46dd-8c63-f91c565950ce |
| specimen |
| reference : Specimen/8cf0addd-2f93-4c3e-b762-31682d0552c8 |
| note |
| text : Samples are to be provided at a later date |
| note |
| text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder |
| request |
| method : POST |
| url : ServiceRequest |
| entry |
| fullUrl : urn:uuid:6a05db05-0156-46dd-8c63-f91c565950ce |
| resource |
| id : 6a05db05-0156-46dd-8c63-f91c565950ce |
| status : final |
| code |
| coding |
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<text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder" />
</note>
</ServiceRequest>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</assigner>
</identifier>
</subject>
</coding>
</valueCodeableConcept>
</Observation>
</resource>
</request>
</entry>
<Specimen>
</identifier>
</coding>
</type>
</identifier>
</assigner>
</identifier>
</subject>
</request>
</Specimen>
</resource>
</request>
</entry>
<RelatedPerson>
</identifier>
</identifier>
</assigner>
</identifier>
</patient>
</coding>
</relationship>
</RelatedPerson>
</resource>
</request>
</entry>
<ServiceRequest>
</coding>
</valueCodeableConcept>
</extension>
</coding>
</valueCodeableConcept>
</extension>
</identifier>
</assigner>
</requisition>
</coding>
</category>
</extension>
</coding>
</code>
</identifier>
</subject>
</requester>
</identifier>
</performer>
</extension>
</coding>
</reasonCode>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</note>
</note>
<text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder" />
</note>
</ServiceRequest>
</resource>
</request>
</entry>
<ServiceRequest>
</coding>
</valueCodeableConcept>
</extension>
</coding>
</valueCodeableConcept>
</extension>
</identifier>
</assigner>
</requisition>
</coding>
</category>
</extension>
</coding>
</code>
</identifier>
</subject>
</requester>
</identifier>
</performer>
</extension>
</coding>
</reasonCode>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</note>
</note>
<text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder" />
</note>
</ServiceRequest>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</valueCodeableConcept>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</code>
</component>
</coding>
</code>
</valueQuantity>
</component>
</coding>
</code>
</component>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</valueCodeableConcept>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</valueCodeableConcept>
</coding>
</code>
</component>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</valueCodeableConcept>
</coding>
</code>
</component>
</Observation>
</resource>
</request>
</entry>
<Procedure>
</coding>
</code>
</identifier>
</subject>
</note>
</Procedure>
</resource>
</request>
</entry>
</Bundle>
Bundle-NonWGSScenario5-ProductsofConception-Example
Example of a Non-WGS test request sent to the central broker, as described in the Clinical Scenario:Fetus Management
| Bundle |
| id : Bundle-NonWGSScenario5-ProductsofConception-Example |
| type : transaction |
| entry |
| fullUrl : urn:uuid:cf37712a-99c8-495b-9865-a96fffe5133c |
| resource |
| id : cf37712a-99c8-495b-9865-a96fffe5133c |
| identifier |
| system : https://fhir.nhs.uk/Id/GMSCompoundIdentifer |
| value : RYJ02:https://fhir.nhs.uk/Id/sds-user-id:2441541066 |
| practitioner |
| identifier |
| system : https://fhir.nhs.uk/Id/sds-user-id |
| value : 2441541066 |
| display : Dr. Lois Lane |
| organization |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RYJ02 |
| display : Charing Cross Hospital |
| specialty |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode |
| code : 311 |
| display : Clinical Genetics |
| telecom |
| system : phone |
| value : 02085467711 |
| telecom |
| system : email |
| value : Hazel.smith12@nhs.net |
| telecom |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| system : email |
| value : clinicalgeneticskingston@nhs.net |
| telecom |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| system : email |
| value : fetalmedicinekingston@nhs.net |
| telecom |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| system : email |
| value : gptestpracticekingston@nhs.net |
| request |
| method : POST |
| url : PractitionerRole |
| entry |
| fullUrl : urn:uuid:c60f7e06-79b1-4a34-9979-e8a461b3f7c8 |
| resource |
| id : c60f7e06-79b1-4a34-9979-e8a461b3f7c8 |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex |
| value |
| coding |
| system : http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender |
| code : F |
| display : Female |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-EthnicCategory |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-EthnicCategoryEngland |
| code : A |
| display : White - British |
| identifier |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland |
| version : 1.1.1 |
| code : 01 |
| display : Number present and verified |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449308322 |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : 71636034 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX01 |
| name |
| family : Boulder |
| given : Ryanne |
| link |
| other |
| reference : https://int.api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449308322 |
| type : seealso |
| request |
| method : POST |
| url : Patient |
| ifNoneExist : Patient?identifier=https://fhir.nhs.uk/Id/nhs-number|9449308322 |
| entry |
| fullUrl : urn:uuid:037d8ff3-da35-4fad-9d28-7a120d4fffe9 |
| resource |
| id : 037d8ff3-da35-4fad-9d28-7a120d4fffe9 |
| extension |
| url : http://hl7.org/fhir/6.0/StructureDefinition/extension-Patient.fetalStatus |
| value : fetal-demise |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : FoetusA |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| name |
| family : Fetus A of MUM |
| gender : female |
| deceased : 2024-05-16T00:00:00-05:00 |
| link |
| other |
| reference : urn:uuid:ac29fd1f-6749-4771-9633-25f39976e48a |
| type : RelatedPerson |
| type : seealso |
| request |
| method : POST |
| url : Patient |
| ifNoneExist : Patient?identifier=urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24|FoetusA |
| entry |
| fullUrl : urn:uuid:a0684de7-7cf5-43a3-b3ba-3dd13e4c2f4f |
| resource |
| id : a0684de7-7cf5-43a3-b3ba-3dd13e4c2f4f |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 723621000000103 |
| display : Ethnicity |
| subject |
| reference : urn:uuid:c60f7e06-79b1-4a34-9979-e8a461b3f7c8 |
| type : Patient |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449308322 |
| value : unknown |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : urn:uuid:a5838f88-99af-4ef9-bcb6-150781680d4d |
| resource |
| id : a5838f88-99af-4ef9-bcb6-150781680d4d |
| 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 |
| identifier |
| system : https://fhir.nhs.uk/Id/GMSOrder |
| value : 5562279a-bb88-45ef-8fbc-b62c09fbbdb2 |
| basedOn |
| reference : ServieRequest/ServiceRequest-NonWGSTestOrderForm-UsingStoredSample-Example |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics |
| code : prenatal-diagnosis |
| display : Prenatal diagnosis |
| priority : urgent |
| 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 : GT1133 |
| display : Common aneuploidy testing |
| subject |
| reference : urn:uuid:c60f7e06-79b1-4a34-9979-e8a461b3f7c8 |
| type : Patient |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449308322 |
| authoredOn : 2025-09-05 |
| requester |
| reference : urn:uuid:cf37712a-99c8-495b-9865-a96fffe5133c |
| type : PractitionerRole |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RYJ02 |
| performer |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : 699N0 |
| 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 : TP289 |
| display : Common aneuploidy testing - prenatal |
| supportingInfo |
| reference : urn:uuid:3e58d52e-aff3-4a70-956b-28509c664f59 |
| type : Observation |
| supportingInfo |
| reference : urn:uuid:193e30bd-6827-468d-b9b7-0849278305db |
| type : Observation |
| supportingInfo |
| reference : urn:uuid:a0684de7-7cf5-43a3-b3ba-3dd13e4c2f4f |
| type : Observation |
| supportingInfo |
| reference : urn:uuid:554cddd5-7b36-4931-aef2-e96c7fc1f322 |
| type : Observation |
| supportingInfo |
| reference : urn:uuid:e8f9a82e-4a01-4449-9c80-c4d38090884f |
| type : Observation |
| supportingInfo |
| reference : urn:uuid:e1858a31-b153-4525-83d6-805cb682df28 |
| type : Observation |
| supportingInfo |
| reference : urn:uuid:5398e192-d44a-4e07-9cdb-63cdeb4ed47a |
| type : Observation |
| supportingInfo |
| reference : urn:uuid:fe049bb9-7988-4209-a5a7-364f7829950d |
| type : Procedure |
| supportingInfo |
| reference : urn:uuid:ac29fd1f-6749-4771-9633-25f39976e48a |
| type : RelatedPerson |
| supportingInfo |
| reference : urn:uuid:037d8ff3-da35-4fad-9d28-7a120d4fffe9 |
| type : Patient |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : FoetusA |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| specimen |
| reference : urn:uuid:6c83fb14-0eb9-465b-8d2c-062b03b12371 |
| type : Specimen |
| note |
| text : Samples are to be provided at a later date |
| note |
| text : No family history of relevant testing |
| note |
| text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder |
| request |
| method : POST |
| url : ServiceRequest |
| entry |
| fullUrl : urn:uuid:3e58d52e-aff3-4a70-956b-28509c664f59 |
| resource |
| id : 3e58d52e-aff3-4a70-956b-28509c664f59 |
| status : final |
| category |
| coding |
| system : http://terminology.hl7.org/CodeSystem/observation-category |
| code : social-history |
| display : Social History |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 267013003 |
| display : Past pregnancy outcome |
| text : Outcome of pregnancy |
| subject |
| reference : urn:uuid:c60f7e06-79b1-4a34-9979-e8a461b3f7c8 |
| type : Patient |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449308322 |
| effective : 2025-08-25 |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 237365001 |
| display : Fresh stillbirth |
| text : a fetal death occurring at or after 28 weeks of pregnancy |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : urn:uuid:554cddd5-7b36-4931-aef2-e96c7fc1f322 |
| resource |
| id : 554cddd5-7b36-4931-aef2-e96c7fc1f322 |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 77386006 |
| display : Pregnancy |
| subject |
| reference : urn:uuid:c60f7e06-79b1-4a34-9979-e8a461b3f7c8 |
| type : Patient |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449308322 |
| effective : 2025-08-25 |
| component |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 720451000000102 |
| display : Assisted conception |
| component |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 226081000000107 |
| display : Gestational age |
| value |
| value : 87 |
| unit : day |
| system : http://unitsofmeasure.org |
| code : d |
| component |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 161714006 |
| display : Estimated date of delivery |
| value : 2025-08-25 |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : urn:uuid:193e30bd-6827-468d-b9b7-0849278305db |
| resource |
| id : 193e30bd-6827-468d-b9b7-0849278305db |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 160475008 |
| display : Family history of consanguinity |
| subject |
| reference : urn:uuid:037d8ff3-da35-4fad-9d28-7a120d4fffe9 |
| type : Patient |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : FoetusA |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| effective : 2025-08-25 |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 260385009 |
| display : Negative |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : urn:uuid:e8f9a82e-4a01-4449-9c80-c4d38090884f |
| resource |
| id : e8f9a82e-4a01-4449-9c80-c4d38090884f |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 416128008 |
| display : No history of procedure |
| subject |
| reference : urn:uuid:c60f7e06-79b1-4a34-9979-e8a461b3f7c8 |
| type : Patient |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449308322 |
| effective : 2025-08-25 |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 263903005 |
| display : Transplant |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : urn:uuid:e1858a31-b153-4525-83d6-805cb682df28 |
| resource |
| id : e1858a31-b153-4525-83d6-805cb682df28 |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 609520005 |
| display : Disorder of fetal structure |
| text : First Trimester Anomalies? |
| subject |
| reference : urn:uuid:c60f7e06-79b1-4a34-9979-e8a461b3f7c8 |
| type : Patient |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449308322 |
| effective : 2025-08-25 |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 260385009 |
| display : Negative |
| component |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 255246003 |
| display : First trimester |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : urn:uuid:5398e192-d44a-4e07-9cdb-63cdeb4ed47a |
| resource |
| id : 5398e192-d44a-4e07-9cdb-63cdeb4ed47a |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 609520005 |
| display : Disorder of fetal structure |
| text : Second Trimester Anomalies? |
| subject |
| reference : urn:uuid:c60f7e06-79b1-4a34-9979-e8a461b3f7c8 |
| type : Patient |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449308322 |
| effective : 2025-08-25 |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 260385009 |
| display : Negative |
| component |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 255247007 |
| display : Second trimester |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : urn:uuid:fe049bb9-7988-4209-a5a7-364f7829950d |
| resource |
| id : fe049bb9-7988-4209-a5a7-364f7829950d |
| status : completed |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 52637005 |
| display : In vitro fertilisation |
| subject |
| reference : urn:uuid:c60f7e06-79b1-4a34-9979-e8a461b3f7c8 |
| type : Patient |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449308322 |
| performed : 2025-05-25 |
| note |
| text : Woman`s own egg |
| request |
| method : POST |
| url : Procedure |
| entry |
| fullUrl : urn:uuid:6c83fb14-0eb9-465b-8d2c-062b03b12371 |
| resource |
| id : 6c83fb14-0eb9-465b-8d2c-062b03b12371 |
| meta |
| tag |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
| code : nhs-england |
| display : NHS England |
| identifier |
| system : https://fhir.add.nhs.uk/Id/specimenId |
| value : RGT19427897 |
| status : unavailable |
| type |
| coding |
| system : http://snomed.info/sct |
| code : 258565009 |
| display : Chorionic villi specimen |
| subject |
| reference : urn:uuid:037d8ff3-da35-4fad-9d28-7a120d4fffe9 |
| type : Patient |
| request |
| reference : ServieRequest/ServiceRequest-NonWGSTestOrderForm-UsingStoredSample-Example |
| type : ServiceRequest |
| request |
| method : POST |
| url : Specimen |
| entry |
| fullUrl : urn:uuid:ac29fd1f-6749-4771-9633-25f39976e48a |
| resource |
| id : ac29fd1f-6749-4771-9633-25f39976e48a |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : 6988036185 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| patient |
| reference : urn:uuid:c60f7e06-79b1-4a34-9979-e8a461b3f7c8 |
| type : Patient |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449308322 |
| relationship |
| coding |
| system : http://terminology.hl7.org/CodeSystem/v3-RoleCode |
| code : NCHILD |
| display : natural child |
| request |
| method : POST |
| url : RelatedPerson |
{
{
{
}
],
},
},
},
},
{
{
}
]
}
],
{
},
{
},
{
{
}
],
},
{
{
}
],
},
{
{
}
],
}
]
},
}
},
{
{
{
}
]
}
},
{
{
}
]
}
}
],
{
{
{
}
]
}
}
],
},
{
}
}
],
],
{
},
}
]
},
}
},
{
{
}
],
{
}
}
],
],
{
},
}
]
},
}
},
{
]
},
}
},
},
}
},
{
{
{
}
]
}
}
],
],
],
{
{
}
]
}
],
{
{
}
],
}
]
},
}
},
}
},
],
{
{
{
}
],
}
]
}
],
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
}
}
}
],
],
{
},
{
},
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder"
}
]
},
}
},
{
{
{
}
]
}
],
],
},
}
},
],
}
},
}
},
{
},
}
},
{
]
}
},
{
]
},
}
},
{
{
}
]
},
}
]
},
}
},
{
{
}
]
},
}
}
},
}
},
}
},
{
]
},
}
},
}
},
}
},
{
{
}
],
},
}
},
},
{
]
}
}
]
},
}
},
{
{
}
],
},
}
},
},
{
]
}
}
]
},
}
},
{
]
},
}
},
]
},
}
},
{
{
}
]
},
],
]
},
},
{
}
]
},
}
},
{
{
}
}
],
}
},
{
{
}
]
}
]
},
}
}
]
}
<PractitionerRole>
</identifier>
</identifier>
</practitioner>
</identifier>
</organization>
</coding>
</specialty>
</telecom>
</telecom>
</extension>
</telecom>
</extension>
</telecom>
</extension>
</telecom>
</PractitionerRole>
</resource>
</request>
</entry>
<Patient>
</coding>
</valueCodeableConcept>
</extension>
</coding>
</valueCodeableConcept>
</extension>
<extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus">
</coding>
</valueCodeableConcept>
</extension>
</identifier>
</identifier>
</assigner>
</identifier>
</name>
<reference value="https://int.api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449308322" />
</other>
</link>
</Patient>
</resource>
</request>
</entry>
<Patient>
</extension>
</identifier>
</assigner>
</identifier>
</name>
</other>
</link>
</Patient>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</Observation>
</resource>
</request>
</entry>
<ServiceRequest>
</coding>
</valueCodeableConcept>
</extension>
</identifier>
</basedOn>
</coding>
</category>
</extension>
</coding>
</code>
</identifier>
</subject>
</identifier>
</requester>
</identifier>
</performer>
</extension>
</coding>
</reasonCode>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</identifier>
</assigner>
</identifier>
</supportingInfo>
</specimen>
</note>
</note>
<text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder" />
</note>
</ServiceRequest>
</resource>
</request>
</entry>
<Observation>
</coding>
</category>
</coding>
</code>
</identifier>
</subject>
</coding>
</valueCodeableConcept>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</code>
</component>
</coding>
</code>
</valueQuantity>
</component>
</coding>
</code>
</component>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</assigner>
</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>
</coding>
</code>
</component>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</valueCodeableConcept>
</coding>
</code>
</component>
</Observation>
</resource>
</request>
</entry>
<Procedure>
</coding>
</code>
</identifier>
</subject>
</note>
</Procedure>
</resource>
</request>
</entry>
<Specimen>
</tag>
</meta>
</identifier>
</coding>
</type>
</subject>
</request>
</Specimen>
</resource>
</request>
</entry>
<RelatedPerson>
</identifier>
</assigner>
</identifier>
</identifier>
</patient>
</coding>
</relationship>
</RelatedPerson>
</resource>
</request>
</entry>
</Bundle>
Bundle-NonWGSTestOrderFormUpdated-FetalScenario-Example
Example of an update to a Non-WGS test request sent to the central broker, as described in the Clinical Scenario:Fetus Management
| Bundle |
| id : Bundle-NonWGSTestOrderFormUpdated-FetalScenario-Example |
| type : transaction |
| entry |
| fullUrl : http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenarioFather-Example |
| resource |
| id : ServiceRequest-NonWGSTestOrderForm-FetalScenarioFather-Example |
| extension |
| url : https://fhir.nhs.uk/England/StructureDefinition/Extension-Genomic-Patient-Role |
| value |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/patient-role-genomics |
| code : consultand |
| display : Consultand |
| 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 |
| requisition |
| system : https://fhir.kingstonandrichmond.nhs.uk/Id/grouptestId |
| value : RR-REQ20230925 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics |
| code : prenatal-diagnosis |
| display : Prenatal diagnosis |
| priority : urgent |
| subject |
| reference : Patient/Patient-RyanneBoulderPartner-Example |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : P-RWT13521 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| authoredOn : 2023-09-25 |
| requester |
| reference : PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-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 : TP289 |
| display : Common aneuploidy testing - prenatal |
| supportingInfo |
| reference : RelatedPerson/RelatedPerson-RyanneBoulderPartner-Example |
| note |
| text : No family history of relevant testing |
| note |
| text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder |
| request |
| method : PUT |
| url : ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example |
| entry |
| fullUrl : http://example.org/fhir/Specimen/Specimen-RyanneBoulderParnerSaliva-Example |
| resource |
| id : Specimen-RyanneBoulderParnerSaliva-Example |
| identifier |
| system : https://fhir.kingstonhospital.nhs.uk//Id/specimenId |
| value : ROA-69050-FTH-RWT13521 |
| status : available |
| type |
| coding |
| system : http://snomed.info/sct |
| code : 119342007 |
| display : Saliva specimen |
| subject |
| reference : Patient/Patient-RyanneBoulderPartner-Example |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : P-RWT13521 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| request |
| reference : ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenarioFather-Example |
| container |
| description : Container:ROA-69050-FTH-RWT13521 contains Saliva for Father |
| request |
| method : POST |
| url : Specimen |
{
{
"fullUrl": "http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenarioFather-Example",
{
{
}
]
}
},
{
{
}
]
}
}
],
}
},
{
{
}
]
}
],
}
}
},
},
{
{
{
}
],
}
]
}
],
],
{
},
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder"
}
]
},
}
},
{
{
}
],
]
},
}
}
},
],
]
},
}
}
]
}
<fullUrl value="http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenarioFather-Example" />
<ServiceRequest>
</coding>
</valueCodeableConcept>
</extension>
</coding>
</valueCodeableConcept>
</extension>
</identifier>
</assigner>
</requisition>
</coding>
</category>
</identifier>
</assigner>
</identifier>
</subject>
</requester>
</extension>
</coding>
</reasonCode>
</supportingInfo>
</note>
<text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder" />
</note>
</ServiceRequest>
</resource>
</request>
</entry>
<Specimen>
</identifier>
</coding>
</type>
</identifier>
</assigner>
</identifier>
</subject>
</request>
</container>
</Specimen>
</resource>
</request>
</entry>
</Bundle>
CommunityCloud-Bundle-Example
Example of a complete bundle covering the metadata required for the Community Cloud project, see Community Cloud Integration
| Bundle |
| type : transaction |
| entry |
| fullUrl : urn:uuid:1e6aef26-d201-43d1-b54c-087cd4ee5c24 |
| resource |
| id : 1e6aef26-d201-43d1-b54c-087cd4ee5c24 |
| meta |
| profile : http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-data-file |
| status : current |
| subject |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : SomePatientIdentifier |
| author |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : 699M0 |
| display : NHS EAST GENOMIC LABORATORY HUB |
| content |
| attachment |
| contentType : application/gzip |
| url : https://002-cen.s3.eu-west-2.amazonaws.com/grch38/haplotyper_normalised_v0.3/140103896-25301R0078-25NGCEN64-9527-F-99347387_markdup_recalibrated_Haplotyper.vcf.gz |
| title : 140103896-25301R0078-25NGCEN64-9527-F-99347387_markdup_recalibrated_Haplotyper.vcf.gz |
| request |
| method : POST |
| url : DocumentReference |
| entry |
| fullUrl : urn:uuid:b6c3ebd7-53e4-450b-b46f-0e9f83d995e6 |
| resource |
| id : b6c3ebd7-53e4-450b-b46f-0e9f83d995e6 |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.19 |
| value : 140103896-25301R0078 |
| type |
| coding |
| system : http://snomed.info/sct |
| code : 24851008 |
| display : Deoxyribonucleic acid |
| request |
| method : POST |
| url : Specimen |
| entry |
| fullUrl : urn:uuid:04a7b32d-2270-4e4e-a1bb-80f0eaa0c4cc |
| resource |
| id : 04a7b32d-2270-4e4e-a1bb-80f0eaa0c4cc |
| deviceName |
| name : Sentieon Haplotyper |
| type : user-friendly-name |
| version |
| value : 202308.03 |
| request |
| method : POST |
| url : Device |
| entry |
| fullUrl : urn:uuid:1e73bfaf-b851-463f-98df-c2b6582a948e |
| resource |
| id : 1e73bfaf-b851-463f-98df-c2b6582a948e |
| deviceName |
| name : Dias |
| type : user-friendly-name |
| version |
| value : eggd_conductor_dias_CEN_config_v2.5.2 |
| request |
| method : POST |
| url : Device |
| entry |
| fullUrl : urn:uuid:44ae1fac-d147-43fb-87ba-35f6bc056f51 |
| resource |
| id : 44ae1fac-d147-43fb-87ba-35f6bc056f51 |
| manufacturer : Illumina |
| deviceName |
| name : Novaseq 6000 |
| type : user-friendly-name |
| property |
| type |
| text : Sequencing assay name |
| valueCode |
| text : CEN |
| request |
| method : POST |
| url : Device |
| entry |
| fullUrl : urn:uuid:9bc12bd5-8e06-4f10-949e-512bb623552e |
| resource |
| id : 9bc12bd5-8e06-4f10-949e-512bb623552e |
| meta |
| profile : http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis |
| extension |
| url : http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-specimen |
| value |
| reference : urn:uuid:b6c3ebd7-53e4-450b-b46f-0e9f83d995e6 |
| extension |
| extension |
| url : device |
| value |
| reference : urn:uuid:44ae1fac-d147-43fb-87ba-35f6bc056f51 |
| extension |
| url : function |
| value |
| text : Sequencing platform |
| url : http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device |
| extension |
| extension |
| url : device |
| value |
| reference : urn:uuid:1e73bfaf-b851-463f-98df-c2b6582a948e |
| extension |
| url : function |
| value |
| text : Bioinformatics Pipeline |
| url : http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device |
| extension |
| extension |
| url : device |
| value |
| reference : urn:uuid:04a7b32d-2270-4e4e-a1bb-80f0eaa0c4cc |
| extension |
| url : function |
| value |
| text : Bioinformatics Variant Caller |
| url : http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device |
| extension |
| extension |
| url : type |
| value |
| coding |
| system : http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-data-format-cs |
| code : vcf |
| display : VCF |
| extension |
| url : file |
| value |
| reference : urn:uuid:1e6aef26-d201-43d1-b54c-087cd4ee5c24 |
| url : http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-output |
| status : completed |
| category |
| coding |
| system : http://terminology.hl7.org/CodeSystem/observation-category |
| code : laboratory |
| subject |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : SomePatientIdentifier |
| performed : 2025-11-25T17:49:00Z |
| request |
| method : POST |
| url : Procedure |
| entry |
| fullUrl : urn:uuid:fc708a88-9a59-4efd-9ff7-c028cf2b9491 |
| resource |
| id : fc708a88-9a59-4efd-9ff7-c028cf2b9491 |
| meta |
| profile : http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study |
| extension |
| url : http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext |
| value |
| reference : urn:uuid:9bc12bd5-8e06-4f10-949e-512bb623552e |
| status : completed |
| category |
| coding |
| system : http://terminology.hl7.org/CodeSystem/observation-category |
| code : laboratory |
| code |
| text : Small |
| subject |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : SomePatientIdentifier |
| performed : 2025-11-25T17:49:00Z |
| reasonCode |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-DigitalGenomicTestService |
| code : TP442 |
| display : Familial hypercholesterolaemia |
| note |
| text : Rare Disease |
| request |
| method : POST |
| url : Procedure |
{
{
},
}
},
{
},
}
],
{
"url": "https://002-cen.s3.eu-west-2.amazonaws.com/grch38/haplotyper_normalised_v0.3/140103896-25301R0078-25NGCEN64-9527-F-99347387_markdup_recalibrated_Haplotyper.vcf.gz",
}
}
]
},
}
},
{
],
]
}
},
}
},
{
],
]
},
}
},
{
],
]
},
}
},
{
],
]
},
}
},
{
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis"
]
},
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-specimen",
}
},
{
{
},
{
}
],
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device"
},
{
{
},
{
}
],
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device"
},
{
{
},
{
}
],
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device"
},
{
{
{
}
]
}
},
{
}
],
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-output"
}
],
]
},
}
},
},
}
},
{
},
{
}
}
],
]
},
},
}
},
{
{
}
]
}
],
]
},
}
}
]
}
<DocumentReference>
</meta>
</identifier>
</subject>
</identifier>
</author>
<url value="https://002-cen.s3.eu-west-2.amazonaws.com/grch38/haplotyper_normalised_v0.3/140103896-25301R0078-25NGCEN64-9527-F-99347387_markdup_recalibrated_Haplotyper.vcf.gz" />
<title value="140103896-25301R0078-25NGCEN64-9527-F-99347387_markdup_recalibrated_Haplotyper.vcf.gz" />
</attachment>
</content>
</DocumentReference>
</resource>
</request>
</entry>
<Specimen>
</identifier>
</coding>
</type>
</Specimen>
</resource>
</request>
</entry>
<Device>
</deviceName>
</version>
</Device>
</resource>
</request>
</entry>
<Device>
</deviceName>
</version>
</Device>
</resource>
</request>
</entry>
<Device>
</deviceName>
</property>
</Device>
</resource>
</request>
</entry>
<Procedure>
<profile value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis" />
</meta>
<extension url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-specimen">
</valueReference>
</extension>
<extension url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device">
</valueReference>
</extension>
</extension>
</extension>
<extension url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device">
</valueReference>
</extension>
</extension>
</extension>
<extension url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device">
</valueReference>
</extension>
</extension>
</extension>
<extension url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-output">
<system value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-data-format-cs" />
</coding>
</valueCodeableConcept>
</extension>
</valueReference>
</extension>
</extension>
</coding>
</category>
</identifier>
</subject>
</Procedure>
</resource>
</request>
</entry>
<Procedure>
</meta>
<extension url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext">
</valueReference>
</extension>
</coding>
</category>
</code>
</identifier>
</subject>
</coding>
</reasonCode>
</note>
</Procedure>
</resource>
</request>
</entry>
</Bundle>
Bundle-GenomicReportVisibility-JamesWilson-Example
Example of marking data Items as withheld, where a data item is required for clinical interpretation but must not be disclosed to the patient (e.g. sex assigned at birth used for interpretation of results or genomic analysis).
| Bundle |
| id : Bundle-GenomicReportVisibility-JamesWilson-Example |
| type : collection |
| entry |
| resource |
| id : Patient-JamesWilson |
| meta |
| security |
| system : http://terminology.hl7.org/CodeSystem/v3-ActCode |
| code : PROCESSINLINELABEL |
| display : Process Inline Security Labels |
| name |
| family : Wilson |
| given : James |
| gender : male |
| extension |
| url : http://hl7.org/fhir/uv/security-label-ds4p/StructureDefinition/extension-inline-sec-label |
| value |
| system : http://terminology.hl7.org/CodeSystem/v3-ActCode |
| code : NOPAT |
| display : No disclosure to patient |
| entry |
| resource |
| id : SR-JamesWilson |
| status : active |
| intent : order |
| code |
| text : Whole Genome Sequencing |
| subject |
| reference : Patient/Patient-JamesWilson |
| authoredOn : 2026-06-15T09:00:00Z |
| entry |
| resource |
| id : DR-JamesWilson |
| status : final |
| code |
| text : Genomic Report |
| subject |
| reference : Patient/Patient-JamesWilson |
| conclusion : No clinically significant variants identified. |
{
{
{
}
]
},
],
{
}
}
]
}
}
},
{
},
},
}
},
{
},
},
}
}
]
}
<Patient>
</security>
</meta>
</name>
<extension url="http://hl7.org/fhir/uv/security-label-ds4p/StructureDefinition/extension-inline-sec-label">
</valueCoding>
</extension>
</gender>
</Patient>
</resource>
</entry>
<ServiceRequest>
</code>
</subject>
</ServiceRequest>
</resource>
</entry>
<DiagnosticReport>
</code>
</subject>
</DiagnosticReport>
</resource>
</entry>
</Bundle>
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 |
{
{
},
},
},
},
{
{
}
]
}
],
{
},
{
},
{
{
}
],
}
]
},
}
},
{
"fullUrl": "http://example.org/fhir/QuestionnaireResponse/QuestionnaireResponse-PatientExtensions-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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]
}
],
{
},
{
},
{
},
{
},
{
},
{
},
{
}
],
{
},
{
"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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{
]
},
},
]
},
}
},
{
],
]
},
},
],
{
}
}
]
},
}
}
]
}
<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>