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-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 : 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 |
| 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 : FoetusA |
| 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|FoetusA |
| 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 : 8955713713 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| relationship |
| coding |
| system : http://terminology.hl7.org/CodeSystem/v3-RoleCode |
| code : NMTHF |
| display : natural mother of fetus |
| request |
| method : POST |
| url : RelatedPerson |
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"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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<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>
</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>