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 |
| system : email |
| value : pathologyseckingston@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| telecom |
| system : email |
| value : respiratorykingston@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| 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 |
| system : email |
| value : pathologyseckingston@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| telecom |
| system : email |
| value : respiratorykingston@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| 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 |
| system : email |
| value : pathologyseckingston@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| telecom |
| system : email |
| value : respiratorykingston@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| request |
| method : POST |
| url : PractitionerRole |
| entry |
| fullUrl : http://example.org/fhir/Patient/Patient-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 |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307555 |
| 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 |
| 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 |
| given : Zelma |
| family : Hadjkiss |
| 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 |
| specimen |
| identifier |
| system : https://fhir.add.nhs.uk/Id/specimenId |
| value : RA257630 |
| value |
| value : 25 |
| unit : % |
| system : http://unitsofmeasure.org |
| code : % |
| component |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 369755005 |
| display : Multiple tumors |
| value : True |
| effective : 2023-09-08 |
| 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 |
| specimen |
| identifier |
| system : https://fhir.add.nhs.uk/Id/specimenId |
| value : RA257630 |
| value |
| value : 5 |
| unit : % |
| system : http://unitsofmeasure.org |
| code : % |
| interpretation |
| text : Cellularity |
| coding |
| system : http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation |
| code : H |
| display : High |
| effective : 2023-09-08 |
| 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 |
| 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.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : cancer-non-wgs |
| display : Cancer - Non-WGS |
| category |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics |
| code : relapse |
| display : Relapse |
| priority : routine |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : M119.5 |
| display : Multi Target NGS Panel Small |
| version : 9 |
| subject |
| reference : Patient/Patient-PatrickSammy-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 |
| 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>
</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>
</coding>
</category>
</coding>
</code>
</identifier>
</subject>
</requester>
</identifier>
</performer>
</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 |
| system : email |
| value : Add-tr.entsecretaries@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| request |
| method : POST |
| url : PractitionerRole |
| entry |
| fullUrl : http://example.org/fhir/Patient/Patient-MeirLieberman-Example |
| resource |
| id : Patient-MeirLieberman-Example |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex |
| value |
| coding |
| system : http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender |
| code : M |
| display : Male |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-EthnicCategory |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-EthnicCategoryEngland |
| code : A |
| display : White - British |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307873 |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland |
| version : 1.1.1 |
| code : 01 |
| display : Number present and verified |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : RGT012423 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RGT01 |
| name |
| given : Meir |
| given : Anah |
| family : Lieberman |
| 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.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : rare-disease-non-wgs |
| display : Rare Disease - Non-WGS |
| category |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics |
| code : diagnostic |
| display : Diagnostic |
| priority : routine |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R67.2 |
| display : Monogenic hearing loss |
| version : 7 |
| 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 |
| 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-GenomicTestDirectory |
| code : R67.2 |
| display : Monogenic hearing loss |
| version : 7 |
| 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 : False |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-NoTransplant-Example |
| resource |
| id : Observation-NoTransplant-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 416128008 |
| display : No history of procedure |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 263903005 |
| display : Transplant |
| 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/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 |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 303955003 |
| display : Transfusion - action |
| 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-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>
</coding>
</category>
</coding>
</code>
</identifier>
</subject>
</requester>
</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>
</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 |
| system : email |
| value : clinicalgeneticskingston@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| telecom |
| system : email |
| value : fetalmedicinekingston@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| telecom |
| system : email |
| value : gptestpracticekingston@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| request |
| method : POST |
| url : PractitionerRole |
| entry |
| fullUrl : http://example.org/fhir/Patient/Patient-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 |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307687 |
| 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 |
| 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 |
| given : Ryanne |
| family : Boulder |
| 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.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
| code : nhs-england |
| display : NHS England |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : rare-disease-non-wgs |
| display : Rare Disease - Non-WGS |
| category |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics |
| code : staging-or-prognosis |
| display : Staging or Prognosis |
| priority : urgent |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R21 |
| display : Fetal anomalies with a likely genetic cause |
| version : 7 |
| 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 |
| supportingInfo |
| reference : Observation/Observation-HistoryOfFetalLoss-Example |
| supportingInfo |
| reference : Observation/Observation-NonConsanguinousUnion-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 |
| supportingInfo |
| reference : Patient/Patient-RyanneBoulder-Example |
| supportingInfo |
| reference : RelatedPerson/RelatedPerson-RyanneBoulderPartner-Example |
| supportingInfo |
| reference : Patient/Patient-RyanneBoulderPartner-Example |
| supportingInfo |
| reference : Specimen/Specimen-BloodEDTA-Example |
| supportingInfo |
| reference : Specimen/Specimen-RyanneBoulderSaliva-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 : False |
| 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 |
| 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 |
| effective : 2023-09-25 |
| 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 : False |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-NoTransplant-Example |
| resource |
| id : Observation-NoTransplant-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 416128008 |
| display : No history of procedure |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 263903005 |
| display : Transplant |
| subject |
| reference : Patient/Patient-RyanneBoulder-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307687 |
| effective : 2023-09-25 |
| 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 |
| component |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 255246003 |
| display : First trimester |
| effective : 2023-09-25 |
| value : False |
| 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 |
| component |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 255247007 |
| display : Second trimester |
| effective : 2023-09-25 |
| value : False |
| 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 |
| 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-FetalScenario-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 |
| container |
| description : Container:ROA-69050-216739 contains Saliva for Mother |
| request |
| reference : ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example |
| 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/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>
</coding>
</category>
</coding>
</category>
</coding>
</code>
</identifier>
</assigner>
</identifier>
</subject>
</requester>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</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>
</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>
</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>
</code>
</component>
</Observation>
</resource>
</request>
</entry>
<fullUrl value="http://example.org/fhir/Observation/Observation-NoSecondTrimesterFetalAnomalies-Example" />
<Observation>
</coding>
</code>
</identifier>
</subject>
</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: Re-analysis (R387)
| 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 |
| system : email |
| value : renalseckingston@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| telecom |
| system : email |
| value : neuroseckingston@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| request |
| method : POST |
| url : PractitionerRole |
| entry |
| fullUrl : http://example.org/fhir/Patient/Patient-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 |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449306559 |
| 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 |
| 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 |
| given : Demeiza |
| family : Seo |
| 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 |
| basedOn |
| reference : ServiceRequest/ServiceRequest-NonWGSTestOrderForm-SyndromicEpilepsy-Example |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
| code : nhs-england |
| display : NHS England |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : rare-disease-non-wgs |
| category |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics |
| code : new-treatment-clinical-management |
| display : New Treatment/Clinical Management |
| text : Significant new treatment and or clinical management implication for the patient.Please provide details/treatment for management of epilepsy |
| priority : routine |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R387 |
| display : Re-analysis |
| version : 7 |
| orderDetail |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R59 |
| display : Early onset or syndromic epilepsy |
| version : 7 |
| 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 |
| 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-GenomicTestDirectory |
| code : R67.2 |
| display : Monogenic hearing loss |
| version : 7 |
| 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 : False |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-NoBoneMarrowTransplant-Example |
| resource |
| id : Observation-NoBoneMarrowTransplant-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 416128008 |
| display : No history of procedure |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 445715009 |
| display : Blood and marrow transplantation |
| subject |
| reference : Patient/Patient-DemeizaSeo-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307559 |
| effective : 2023-08-05 |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-NoTransfusion-Example |
| resource |
| id : Observation-NoTransfusion-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 416128008 |
| display : No history of procedure |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 303955003 |
| display : Transfusion - action |
| 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 |
{
{
},
},
},
},
{
{
}
]
}
],
{
},
{
},
{
{
}
]
},
{
{
}
]
}
]
},
}
},
{
{
{
}
]
}
},
{
{
}
]
}
}
],
{
{
{
}
]
}
}
]
},
{
}
}
],
],
],
{
},
},
{
},
}
],
{
},
}
]
},
}
},
{
]
},
}
},
},
}
},
{
"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>
</category>
</coding>
<text value="Significant new treatment and or clinical management implication for the patient.Please provide details/treatment for management of epilepsy" />
</category>
</coding>
</code>
</coding>
</orderDetail>
</identifier>
</subject>
</requester>
</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>
</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 |
| system : email |
| value : renalseckingston@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| request |
| method : POST |
| url : PractitionerRole |
| entry |
| fullUrl : http://example.org/fhir/Patient/Patient-LindsaySorrell-Example |
| resource |
| id : Patient-LindsaySorrell-Example |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex |
| value |
| coding |
| system : http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender |
| code : M |
| display : Male |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-EthnicCategory |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-EthnicCategoryEngland |
| code : A |
| display : White - British |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland |
| version : 1.1.1 |
| code : 01 |
| display : Number present and verified |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : RWT14789 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX01 |
| name |
| given : Lindsay |
| family : Sorrell |
| birthDate : 2011-04-12 |
| deceased : False |
| address |
| line : 31 THE AVENUE |
| line : BERWICK COURT |
| postalCode : KT4 7BS |
| generalPractitioner |
| identifier |
| system : https://fhir.hl7.org.uk/Id/gmp-number |
| value : G9999999 |
| display : Dr. Aero Smith |
| generalPractitioner |
| identifier |
| system : https://fhir.hl7.org.uk/Id/ODS-code |
| value : AP123 |
| display : anywhere place |
| link |
| other |
| reference : https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307946 |
| type : seealso |
| request |
| method : POST |
| url : Patient |
| ifNoneExist : Patient?identifier=https://fhir.nhs.uk/Id/nhs-number|9449307946 |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-GenomicEthnicity-Example |
| resource |
| id : Observation-GenomicEthnicity-Example |
| status : preliminary |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 723621000000103 |
| display : Ethnicity |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| value : unknown |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/ServiceRequest/ServiceRequest-WGSTestOrderForm-Example |
| resource |
| id : ServiceRequest-WGSTestOrderForm-Example |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
| code : nhs-england |
| display : NHS England |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : rare-disease-wgs |
| display : Rare Disease - WGS |
| category |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics |
| code : diagnostic |
| display : Diagnostic |
| priority : routine |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R193.4 |
| display : Cystic renal disease |
| version : 7 |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| authoredOn : 2023-08-08 |
| requester |
| reference : PractitionerRole/PractitionerRole-HazelSmithRenal-Example |
| 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-GenomicTestDirectory |
| code : R67.2 |
| display : Monogenic hearing loss |
| version : 7 |
| 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 : False |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-NoBoneMarrowTransplant-Example |
| resource |
| id : Observation-NoBoneMarrowTransplant-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 416128008 |
| display : No history of procedure |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 445715009 |
| display : Blood and marrow transplantation |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| effective : 2023-08-05 |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-NoTransfusion-Example |
| resource |
| id : Observation-NoTransfusion-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 416128008 |
| display : No history of procedure |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 303955003 |
| display : Transfusion - action |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| effective : 2023-08-05 |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-MultipleRenalCysts-Example |
| resource |
| id : Observation-MultipleRenalCysts-Example |
| status : final |
| code |
| coding |
| system : http://human-phenotype-ontology.org |
| version : 20221005 |
| code : HP:0005562 |
| display : Multiple renal cysts |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| effective : 2023-08-05 |
| value : False |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-Nephronophthisis-Example |
| resource |
| id : Observation-Nephronophthisis-Example |
| status : final |
| code |
| coding |
| system : http://human-phenotype-ontology.org |
| version : 20221005 |
| code : HP:0000090 |
| display : Nephronophthisis |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| effective : 2023-08-05 |
| value : False |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-HepaticCysts-Example |
| resource |
| id : Observation-HepaticCysts-Example |
| status : final |
| code |
| coding |
| system : http://human-phenotype-ontology.org |
| version : 20221005 |
| code : HP:0001407 |
| display : Hepatic cysts |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| effective : 2023-08-05 |
| value : False |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-EnlargedKidney-Example |
| resource |
| id : Observation-EnlargedKidney-Example |
| status : final |
| code |
| coding |
| system : http://human-phenotype-ontology.org |
| version : 20221005 |
| code : HP:0000105 |
| display : Enlarged kidney |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| effective : 2023-08-05 |
| value : True |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-RenalInsufficiency-Example |
| resource |
| id : Observation-RenalInsufficiency-Example |
| status : final |
| code |
| coding |
| system : http://human-phenotype-ontology.org |
| version : 20221005 |
| code : HP:0000083 |
| display : Renal insufficiency |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| effective : 2023-08-05 |
| value : True |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Specimen/Specimen-BloodEDTA-Example |
| resource |
| id : Specimen-BloodEDTA-Example |
| identifier |
| system : https://fhir.add.nhs.uk/Id/specimenId |
| value : RGT03135 |
| status : unavailable |
| type |
| coding |
| system : http://snomed.info/sct |
| code : 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>
</coding>
</category>
</coding>
</code>
</identifier>
</subject>
</requester>
</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>
</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>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</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 : 2024-01-30T12:01:24Z |
| type : transaction-response |
| entry |
| response |
| status : 422 Unprocessable Entity |
| outcome |
| meta |
| lastUpdated : 2024-01-30T12:01:24Z |
| 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 : 2024-01-30T12:01:24Z |
| outcome |
| meta |
| lastUpdated : 2024-01-30T12:01:24Z |
| 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 : 2024-01-30T12:01:24Z |
| 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.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : rare-disease-non-wgs |
| display : Rare Disease - Non-WGS |
| category |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics |
| code : diagnostic |
| display : Diagnostic |
| priority : routine |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R67.2 |
| display : Monogenic hearing loss |
| version : 7 |
| 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 |
| 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 : 2024-01-30T12:01:24Z |
| outcome |
| meta |
| lastUpdated : 2024-01-30T12:01:24Z |
| 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 |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307873 |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland |
| version : 1.1.1 |
| code : 01 |
| display : Number present and verified |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : RGT012423 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RGT01 |
| name |
| given : Meir |
| given : Anah |
| family : Lieberman |
| 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 : 2024-01-30T12:01:24Z |
| outcome |
| meta |
| lastUpdated : 2024-01-30T12:01:24Z |
| 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>
</coding>
</category>
</coding>
</code>
</identifier>
</subject>
</requester>
</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 |
| system : email |
| value : clinicalgeneticskingston@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| telecom |
| system : email |
| value : fetalmedicinekingston@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| telecom |
| system : email |
| value : gptestpracticekingston@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| request |
| method : POST |
| url : PractitionerRole |
| entry |
| fullUrl : urn:uuid:51008c44-551e-4272-a2a8-36f7d5363c9c |
| resource |
| id : 51008c44-551e-4272-a2a8-36f7d5363c9c |
| 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 |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449308322 |
| 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 |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : 02848675 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX01 |
| name |
| given : Ryanne |
| family : Boulder |
| birthDate : 1980-09-02 |
| deceased : False |
| address |
| line : 32 THE AVENUE |
| line : BERWICK COURT |
| postalCode : KT4 8HE |
| 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 : RelatedPerson/6473db02-3c45-42f0-9b8c-9d063753f86b |
| type : seealso |
| request |
| method : POST |
| url : Patient |
| ifNoneExist : Patient?identifier=https://fhir.nhs.uk/Id/nhs-number|9449308322 |
| 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 |
| gender : unknown |
| 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 |
| given : FETUS A |
| family : MUM |
| 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: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:d302e6f8-c09f-4153-a669-8fa6b3a95d52 |
| resource |
| id : d302e6f8-c09f-4153-a669-8fa6b3a95d52 |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
| code : nhs-england |
| display : NHS England |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : rare-disease-non-wgs |
| display : Rare Disease - Non-WGS |
| priority : urgent |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R21.1 |
| display : Fetal anomalies with a likely genetic cause |
| version : 7 |
| subject |
| reference : Patient/849705be-9ed3-499c-ab8a-5579dd02d305 |
| 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 |
| system : https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics |
| code : staging-or-prognosis |
| display : Staging or Prognosis |
| supportingInfo |
| reference : Observation/2f4ef82c-3125-4ebf-8d5e-e19b86ea47c6 |
| supportingInfo |
| reference : Observation/2a6e7070-5ea2-4ef3-96b6-607b474fcc0b |
| 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 : Observation/4512e4e9-9b42-4464-b52f-81e5f7e380b0 |
| supportingInfo |
| reference : Procedure/1ee371f7-00c5-4787-a910-89dc42cbbf47 |
| supportingInfo |
| reference : RelatedPerson/6473db02-3c45-42f0-9b8c-9d063753f86b |
| supportingInfo |
| reference : Patient/51008c44-551e-4272-a2a8-36f7d5363c9c |
| supportingInfo |
| reference : Specimen/9fa291ba-d9a4-46a9-87e5-486bcaae47fa |
| 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 : False |
| 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 |
| 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 |
| effective : 2023-09-25 |
| request |
| method : POST |
| url : Observation |
| 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 |
| effective : 2023-09-25 |
| value : False |
| 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 |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 263903005 |
| display : Transplant |
| subject |
| reference : Patient/51008c44-551e-4272-a2a8-36f7d5363c9c |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449308322 |
| effective : 2023-09-25 |
| 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 |
| component |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 255246003 |
| display : First trimester |
| effective : 2023-09-25 |
| value : False |
| 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 |
| component |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 255247007 |
| display : Second trimester |
| effective : 2023-09-25 |
| value : False |
| 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: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 |
| 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 : 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"
}
]
},
}
},
{
{
}
],
},
}
},
},
}
},
{
},
}
},
{
]
}
},
{
]
},
}
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{
{
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]
},
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],
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{
{
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]
},
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{
]
},
},
}
},
},
}
},
{
{
}
],
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}
},
{
]
}
}
],
},
}
},
{
{
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],
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}
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{
]
}
}
],
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{
]
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}
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]
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{
],
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},
}
},
{
],
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}
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{
{
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]
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},
}
}
]
}
<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>
</Patient>
</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>
<Observation>
</coding>
</code>
</identifier>
</subject>
</Observation>
</resource>
</request>
</entry>
<ServiceRequest>
</coding>
</valueCodeableConcept>
</extension>
</coding>
</category>
</coding>
</code>
</subject>
</requester>
</identifier>
</performer>
</coding>
</reasonCode>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</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>
</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>
</subject>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</valueCodeableConcept>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</code>
</component>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</code>
</component>
</Observation>
</resource>
</request>
</entry>
<Procedure>
</coding>
</code>
</identifier>
</subject>
</note>
</Procedure>
</resource>
</request>
</entry>
<Specimen>
</identifier>
</coding>
</type>
</subject>
</request>
</Specimen>
</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 |
| system : email |
| value : clinicalgeneticskingston@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| telecom |
| system : email |
| value : fetalmedicinekingston@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| telecom |
| system : email |
| value : gptestpracticekingston@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| request |
| method : POST |
| url : PractitionerRole |
| entry |
| fullUrl : urn:uuid:51008c44-551e-4272-a2a8-36f7d5363c9c |
| resource |
| id : 51008c44-551e-4272-a2a8-36f7d5363c9c |
| 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 |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449308322 |
| 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 |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : 02848675 |
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},
},
]
},
}
}
]
}
<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>
</Patient>
</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>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</valueCodeableConcept>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</code>
</component>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</code>
</component>
</Observation>
</resource>
</request>
</entry>
<Procedure>
</coding>
</code>
</identifier>
</subject>
</note>
</Procedure>
</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>
<RelatedPerson>
</identifier>
</identifier>
</assigner>
</identifier>
</patient>
</coding>
</relationship>
</RelatedPerson>
</resource>
</request>
</entry>
<ServiceRequest>
</coding>
</valueCodeableConcept>
</extension>
</identifier>
</assigner>
</requisition>
</coding>
</category>
</coding>
</code>
</subject>
</requester>
</identifier>
</performer>
</coding>
</reasonCode>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</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>
</subject>
</Observation>
</resource>
</request>
</entry>
<Specimen>
</identifier>
</coding>
</type>
</subject>
</request>
</Specimen>
</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-B-7855713723" />
</request>
</entry>
<RelatedPerson>
</identifier>
</identifier>
</assigner>
</identifier>
</patient>
</coding>
</relationship>
</RelatedPerson>
</resource>
</request>
</entry>
<ServiceRequest>
</coding>
</valueCodeableConcept>
</extension>
</identifier>
</assigner>
</requisition>
</coding>
</category>
</coding>
</code>
</subject>
</requester>
</identifier>
</performer>
</coding>
</reasonCode>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</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>
</subject>
</Observation>
</resource>
</request>
</entry>
<Specimen>
</identifier>
</coding>
</type>
</subject>
</request>
</Specimen>
</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 |
| given : Ryanne |
| family : Boulder |
| 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.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : rare-disease-non-wgs |
| display : Rare Disease - Non-WGS |
| priority : urgent |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| version : 7 |
| code : R21.1 |
| display : Fetal anomalies with a likely genetic cause |
| 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 |
| system : https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics |
| code : staging-or-prognosis |
| display : Staging or Prognosis |
| 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 |
| 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 |
| effective : 2025-08-25 |
| value : False |
| 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 : False |
| 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 : False |
| 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>
</coding>
</code>
</identifier>
</subject>
</identifier>
</requester>
</identifier>
</performer>
</coding>
</reasonCode>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</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>
</subject>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</valueCodeableConcept>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</code>
</component>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</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-NonWGSTestOrderFormUpdated-FetalScenario-Example |
| resource |
| id : ServiceRequest-NonWGSTestOrderFormUpdated-FetalScenario-Example |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
| code : nhs-england |
| display : NHS England |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : rare-disease-non-wgs |
| display : Rare Disease - Non-WGS |
| category |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics |
| code : staging-or-prognosis |
| display : Staging or Prognosis |
| priority : urgent |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R21 |
| display : Fetal anomalies with a likely genetic cause |
| version : 7 |
| 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 |
| supportingInfo |
| reference : Observation/Observation-HistoryOfFetalLoss-Example |
| supportingInfo |
| reference : Observation/Observation-NonConsanguinousUnion-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 : Specimen/Specimen-BloodEDTA-Example |
| supportingInfo |
| reference : Specimen/Specimen-RyanneBoulderSaliva-Example |
| supportingInfo |
| reference : Specimen/Specimen-RyanneBoulderPartnerSaliva-Example |
| supportingInfo |
| reference : RelatedPerson/RelatedPerson-RyanneBoulder-Example |
| supportingInfo |
| reference : Patient/Patient-RyanneBoulder-Example |
| supportingInfo |
| reference : RelatedPerson/RelatedPerson-RyanneBoulderPartner-Example |
| supportingInfo |
| reference : Patient/Patient-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 |
| container |
| description : Container:ROA-69050-FTH-RWT13521 contains Saliva for Father |
| request |
| reference : ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example |
| request |
| method : POST |
| url : Specimen |
{
{
"fullUrl": "http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderFormUpdated-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 value="http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderFormUpdated-FetalScenario-Example" />
<ServiceRequest>
</coding>
</valueCodeableConcept>
</extension>
</coding>
</category>
</coding>
</category>
</coding>
</code>
</identifier>
</assigner>
</identifier>
</subject>
</requester>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</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/ E.g. large echogenic kidneys with normal bladder" />
</note>
</ServiceRequest>
</resource>
</request>
</entry>
<Specimen>
</identifier>
</coding>
</type>
</subject>
</request>
</container>
</Specimen>
</resource>
</request>
</entry>
</Bundle>