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-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 : 2.2.0 |
| 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 |
| gender : female |
| 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 |
| 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 |
| reference : https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307687 |
| 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 |
| 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 |
| 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 |
| display : NHS |
| 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 |
| display : Fetal anomalies with a likely genetic cause |
| subject |
| reference : Patient/Patient-FoetusOfRyanneBoulder-Example |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : FT-RWT13521 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| authoredOn : 2023-09-25 |
| requester |
| reference : PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example |
| reasonCode |
| coding |
| system : http://snomed.info/sct |
| code : 243787009 |
| display : Antenatal screening |
| supportingInfo |
| reference : Observation/Observation-HistoryOfFetalLoss-Example |
| supportingInfo |
| reference : Observation/Observation-NonConsanguinousUnion-Example |
| supportingInfo |
| reference : FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnionRyanneBoulder-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 |
| 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/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 |
| display : NHS |
| 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 |
| display : Fetal anomalies with a likely genetic cause |
| subject |
| reference : Patient/Patient-FoetusOfRyanneBoulder-Example |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : FT-RWT13521 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| authoredOn : 2023-09-25 |
| requester |
| reference : PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example |
| reasonCode |
| coding |
| system : http://snomed.info/sct |
| code : 243787009 |
| display : Antenatal screening |
| supportingInfo |
| reference : Observation/Observation-HistoryOfFetalLoss-Example |
| supportingInfo |
| reference : Observation/Observation-NonConsanguinousUnion-Example |
| supportingInfo |
| reference : FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnionRyanneBoulder-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 |
| 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-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 : 842009 |
| display : 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 : 77465005 |
| display : Transplantation |
| 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-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 : 445295009 |
| display : Blood specimen with EDTA |
| subject |
| reference : Patient/Patient-RyanneBoulder-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307687 |
| request |
| reference : ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example |
| request |
| method : POST |
| url : Specimen |
| 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 |
| entry |
| fullUrl : http://example.org/fhir/RelatedPerson/RelatedPerson-RyanneBoulder-Example |
| resource |
| id : RelatedPerson-RyanneBoulder-Example |
| patient |
| 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 |
| patient |
| 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 |
| entry |
| fullUrl : http://example.org/fhir/FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnionRyanneBoulder-Example |
| resource |
| id : FamilyMemberHistory-NonConsanguinousUnionRyanneBoulder-Example |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation |
| value |
| reference : Observation/Observation-NonConsanguinousUnion-Example |
| status : completed |
| 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 : FamilyMemberHistory |
{ "resourceType": "Bundle", "id": "Bundle-NonWGSTestOrderForm-FetalScenario-Example", "type": "transaction", "entry": [ { "fullUrl": "http://example.org/fhir/PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example", "resource": { "resourceType": "PractitionerRole", "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" }, { "system": "email", "value": "lois.lane1@nhs.net" }, { "system": "email", "value": "clinicalgeneticskingston@nhs.net", "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/contactpoint-comment", "valueString": "reporting" } ] }, { "system": "email", "value": "fetalmedicinekingston@nhs.net", "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/contactpoint-comment", "valueString": "reporting" } ] }, { "system": "email", "value": "gptestpracticekingston@nhs.net", "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/contactpoint-comment", "valueString": "reporting" } ] } ] }, "request": { "method": "POST", "url": "PractitionerRole" } }, { "fullUrl": "http://example.org/fhir/Patient/Patient-RyanneBoulder-Example", "resource": { "resourceType": "Patient", "id": "Patient-RyanneBoulder-Example", "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex", "valueCodeableConcept": { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender", "code": "F", "display": "Female" } ] } }, { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-EthnicCategory", "valueCodeableConcept": { "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", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland", "version": "2.2.0", "code": "01", "display": "Number present and verified" } ] } } ] }, { "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" } ], "gender": "female", "birthDate": "1980-09-02", "deceasedBoolean": false, "address": [ { "line": [ "53 Eastwick Pack Avenue", "Leatherhead", "Surrey" ], "postalCode": "KT23 3NP" } ], "generalPractitioner": [ { "identifier": { "system": "https://fhir.hl7.org.uk/Id/gmp-number", "value": "G9999999" }, "display": "Dr. Aero Smith" }, { "identifier": { "system": "https://fhir.hl7.org.uk/Id/ODS-code", "value": "AP123" }, "display": "anywhere place" } ], "link": [ { "other": { "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" } } }, "reference": "https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307687" }, "type": "seealso" } ] }, "request": { "method": "POST", "url": "Patient", "ifNoneExist": "Patient?identifier=https://fhir.nhs.uk/Id/nhs-number|9449307687" } }, { "fullUrl": "http://example.org/fhir/Patient/Patient-FoetusOfRyanneBoulder-Example", "resource": { "resourceType": "Patient", "id": "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" } } } ], "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" } }, { "fullUrl": "http://example.org/fhir/Patient/Patient-RyanneBoulderPartner-Example", "resource": { "resourceType": "Patient", "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" }, "request": { "method": "POST", "url": "Patient", "ifNoneExist": "Patient?identifier=urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24|P-RWT13521" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-GenomicEthnicity-Example", "resource": { "resourceType": "Observation", "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" } }, "valueString": "unknown" }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example", "resource": { "resourceType": "ServiceRequest", "id": "ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example", "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } } ], "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", "display": "Fetal anomalies with a likely genetic cause" } ] }, "subject": { "reference": "Patient/Patient-FoetusOfRyanneBoulder-Example", "identifier": { "system": "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", "value": "FT-RWT13521", "assigner": { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RAX" } } } }, "authoredOn": "2023-09-25", "requester": { "reference": "PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example" }, "reasonCode": [ { "coding": [ { "system": "http://snomed.info/sct", "code": "243787009", "display": "Antenatal screening" } ] } ], "supportingInfo": [ { "reference": "Observation/Observation-HistoryOfFetalLoss-Example" }, { "reference": "Observation/Observation-NonConsanguinousUnion-Example" }, { "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnionRyanneBoulder-Example" }, { "reference": "Observation/Observation-GenomicEthnicity-Example" }, { "reference": "Observation/Observation-PregnancyConfirmation-Example" }, { "reference": "Observation/Observation-NoTransplant-Example" }, { "reference": "Observation/Observation-NoFirstTrimesterFetalAnomalies-Example" }, { "reference": "Observation/Observation-NoSecondTrimesterFetalAnomalies-Example" }, { "reference": "Procedure/Procedure-InVitroFertilisation-Example" } ], "note": [ { "text": "Samples are to be provided at a later date" }, { "text": "No family history of relevant testing" }, { "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" } }, { "fullUrl": "http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderFormUpdated-FetalScenario-Example", "resource": { "resourceType": "ServiceRequest", "id": "ServiceRequest-NonWGSTestOrderFormUpdated-FetalScenario-Example", "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } } ], "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", "display": "Fetal anomalies with a likely genetic cause" } ] }, "subject": { "reference": "Patient/Patient-FoetusOfRyanneBoulder-Example", "identifier": { "system": "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", "value": "FT-RWT13521", "assigner": { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RAX" } } } }, "authoredOn": "2023-09-25", "requester": { "reference": "PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example" }, "reasonCode": [ { "coding": [ { "system": "http://snomed.info/sct", "code": "243787009", "display": "Antenatal screening" } ] } ], "supportingInfo": [ { "reference": "Observation/Observation-HistoryOfFetalLoss-Example" }, { "reference": "Observation/Observation-NonConsanguinousUnion-Example" }, { "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnionRyanneBoulder-Example" }, { "reference": "Observation/Observation-GenomicEthnicity-Example" }, { "reference": "Observation/Observation-PregnancyConfirmation-Example" }, { "reference": "Observation/Observation-NoTransplant-Example" }, { "reference": "Observation/Observation-NoFirstTrimesterFetalAnomalies-Example" }, { "reference": "Observation/Observation-NoSecondTrimesterFetalAnomalies-Example" }, { "reference": "Procedure/Procedure-InVitroFertilisation-Example" }, { "reference": "Specimen/Specimen-BloodEDTA-Example" }, { "reference": "Specimen/Specimen-RyanneBoulderSaliva-Example" }, { "reference": "Specimen/Specimen-RyanneBoulderPartnerSaliva-Example" } ], "note": [ { "text": "No family history of relevant testing" }, { "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" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-PregnancyConfirmation-Example", "resource": { "resourceType": "Observation", "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" } ] } }, { "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "226081000000107", "display": "Gestational age" } ] }, "valueQuantity": { "value": 87, "unit": "day", "system": "http://unitsofmeasure.org", "code": "d" } }, { "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "161714006", "display": "Estimated date of delivery" } ] }, "valueDateTime": "2024-05-01" } ], "effectiveDateTime": "2023-09-25" }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-NonConsanguinousUnion-Example", "resource": { "resourceType": "Observation", "id": "Observation-NonConsanguinousUnion-Example", "status": "final", "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "842009", "display": "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" } } } ] }, "effectiveDateTime": "2023-09-25", "valueBoolean": false }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-NoTransplant-Example", "resource": { "resourceType": "Observation", "id": "Observation-NoTransplant-Example", "status": "final", "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "77465005", "display": "Transplantation" } ] }, "subject": { "reference": "Patient/Patient-RyanneBoulder-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307687" } }, "effectiveDateTime": "2023-09-25", "valueBoolean": false }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-NoFirstTrimesterFetalAnomalies-Example", "resource": { "resourceType": "Observation", "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" } ] } } ], "effectiveDateTime": "2023-09-25", "valueBoolean": false }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-NoSecondTrimesterFetalAnomalies-Example", "resource": { "resourceType": "Observation", "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" } ] } } ], "effectiveDateTime": "2023-09-25", "valueBoolean": false }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/Procedure/Procedure-InVitroFertilisation-Example", "resource": { "resourceType": "Procedure", "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" } }, "performedDateTime": "2023-09-25", "note": [ { "text": "Woman`s own egg" } ] }, "request": { "method": "POST", "url": "Procedure" } }, { "fullUrl": "http://example.org/fhir/Specimen/Specimen-BloodEDTA-Example", "resource": { "resourceType": "Specimen", "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": "445295009", "display": "Blood specimen with EDTA" } ] }, "subject": { "reference": "Patient/Patient-RyanneBoulder-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307687" } }, "request": [ { "reference": "ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example" } ] }, "request": { "method": "POST", "url": "Specimen" } }, { "fullUrl": "http://example.org/fhir/Specimen/Specimen-RyanneBoulderParnerSaliva-Example", "resource": { "resourceType": "Specimen", "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/RelatedPerson/RelatedPerson-RyanneBoulder-Example", "resource": { "resourceType": "RelatedPerson", "id": "RelatedPerson-RyanneBoulder-Example", "patient": { "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" } }, { "fullUrl": "http://example.org/fhir/RelatedPerson/RelatedPerson-RyanneBoulderPartner-Example", "resource": { "resourceType": "RelatedPerson", "id": "RelatedPerson-RyanneBoulderPartner-Example", "patient": { "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/FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnionRyanneBoulder-Example", "resource": { "resourceType": "FamilyMemberHistory", "id": "FamilyMemberHistory-NonConsanguinousUnionRyanneBoulder-Example", "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation", "valueReference": { "reference": "Observation/Observation-NonConsanguinousUnion-Example" } } ], "status": "completed", "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": "FamilyMemberHistory" } } ] }
<Bundle xmlns="http://hl7.org/fhir"> <id value="Bundle-NonWGSTestOrderForm-FetalScenario-Example" /> <type value="transaction" /> <entry> <fullUrl value="http://example.org/fhir/PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example" /> <resource> <PractitionerRole> <id value="PractitionerRole-LoisLaneKingstonClinicalGenetics-Example" /> <practitioner> <identifier> <system value="https://fhir.nhs.uk/Id/sds-user-id" /> <value value="9999999999" /> </identifier> <display value="Dr. Lois Lane" /> </practitioner> <organization> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX" /> </identifier> <display value="Kingston Hospital NHS Foundation Trust" /> </organization> <specialty> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode" /> <code value="311" /> <display value="Clinical Genetics" /> </coding> </specialty> <telecom> <system value="phone" /> <value value="02068457781" /> </telecom> <telecom> <system value="email" /> <value value="lois.lane1@nhs.net" /> </telecom> <telecom> <extension url="http://hl7.org/fhir/StructureDefinition/contactpoint-comment"> <valueString value="reporting" /> </extension> <system value="email" /> <value value="clinicalgeneticskingston@nhs.net" /> </telecom> <telecom> <extension url="http://hl7.org/fhir/StructureDefinition/contactpoint-comment"> <valueString value="reporting" /> </extension> <system value="email" /> <value value="fetalmedicinekingston@nhs.net" /> </telecom> <telecom> <extension url="http://hl7.org/fhir/StructureDefinition/contactpoint-comment"> <valueString value="reporting" /> </extension> <system value="email" /> <value value="gptestpracticekingston@nhs.net" /> </telecom> </PractitionerRole> </resource> <request> <method value="POST" /> <url value="PractitionerRole" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Patient/Patient-RyanneBoulder-Example" /> <resource> <Patient> <id value="Patient-RyanneBoulder-Example" /> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex"> <valueCodeableConcept> <coding> <system value="http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender" /> <code value="F" /> <display value="Female" /> </coding> </valueCodeableConcept> </extension> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-EthnicCategory"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-EthnicCategoryEngland" /> <code value="A" /> <display value="White - British" /> </coding> </valueCodeableConcept> </extension> <identifier> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland" /> <version value="2.2.0" /> <code value="01" /> <display value="Number present and verified" /> </coding> </valueCodeableConcept> </extension> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307687" /> </identifier> <identifier> <system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" /> <value value="RWT13521" /> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX" /> </identifier> </assigner> </identifier> <name> <family value="Boulder" /> <given value="Ryanne" /> </name> <gender value="female" /> <birthDate value="1980-09-02" /> <deceasedBoolean value="false" /> <address> <line value="53 Eastwick Pack Avenue" /> <line value="Leatherhead" /> <line value="Surrey" /> <postalCode value="KT23 3NP" /> </address> <generalPractitioner> <identifier> <system value="https://fhir.hl7.org.uk/Id/gmp-number" /> <value value="G9999999" /> </identifier> <display value="Dr. Aero Smith" /> </generalPractitioner> <generalPractitioner> <identifier> <system value="https://fhir.hl7.org.uk/Id/ODS-code" /> <value value="AP123" /> </identifier> <display value="anywhere place" /> </generalPractitioner> <link> <other> <reference value="https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307687" /> <identifier> <system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" /> <value value="FT-RWT13521" /> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX" /> </identifier> </assigner> </identifier> </other> <type value="seealso" /> </link> </Patient> </resource> <request> <method value="POST" /> <url value="Patient" /> <ifNoneExist value="Patient?identifier=https://fhir.nhs.uk/Id/nhs-number|9449307687" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Patient/Patient-FoetusOfRyanneBoulder-Example" /> <resource> <Patient> <id value="Patient-FoetusOfRyanneBoulder-Example" /> <identifier> <system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" /> <value value="FT-RWT13521" /> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX" /> </identifier> </assigner> </identifier> <gender value="unknown" /> </Patient> </resource> <request> <method value="POST" /> <url value="Patient" /> <ifNoneExist value="Patient?identifier=urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24|FT-RWT13521" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Patient/Patient-RyanneBoulderPartner-Example" /> <resource> <Patient> <id value="Patient-RyanneBoulderPartner-Example" /> <identifier> <system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" /> <value value="P-RWT13521" /> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX" /> </identifier> </assigner> </identifier> <gender value="unknown" /> </Patient> </resource> <request> <method value="POST" /> <url value="Patient" /> <ifNoneExist value="Patient?identifier=urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24|P-RWT13521" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-GenomicEthnicity-Example" /> <resource> <Observation> <id value="Observation-GenomicEthnicity-Example" /> <status value="preliminary" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="723621000000103" /> <display value="Ethnicity" /> </coding> </code> <subject> <reference value="Patient/Patient-RyanneBoulder-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307687" /> </identifier> </subject> <valueString value="unknown" /> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example" /> <resource> <ServiceRequest> <id value="ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example" /> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <status value="active" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="rare-disease-non-wgs" /> <display value="Rare Disease - Non-WGS" /> </coding> </category> <priority value="urgent" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R21" /> <display value="Fetal anomalies with a likely genetic cause" /> </coding> </code> <subject> <reference value="Patient/Patient-FoetusOfRyanneBoulder-Example" /> <identifier> <system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" /> <value value="FT-RWT13521" /> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX" /> </identifier> </assigner> </identifier> </subject> <authoredOn value="2023-09-25" /> <requester> <reference value="PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example" /> </requester> <reasonCode> <coding> <system value="http://snomed.info/sct" /> <code value="243787009" /> <display value="Antenatal screening" /> </coding> </reasonCode> <supportingInfo> <reference value="Observation/Observation-HistoryOfFetalLoss-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnionRyanneBoulder-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-GenomicEthnicity-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-PregnancyConfirmation-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransplant-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoFirstTrimesterFetalAnomalies-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoSecondTrimesterFetalAnomalies-Example" /> </supportingInfo> <supportingInfo> <reference value="Procedure/Procedure-InVitroFertilisation-Example" /> </supportingInfo> <note> <text value="Samples are to be provided at a later date" /> </note> <note> <text value="No family history of relevant testing" /> </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> <method value="POST" /> <url value="ServiceRequest" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderFormUpdated-FetalScenario-Example" /> <resource> <ServiceRequest> <id value="ServiceRequest-NonWGSTestOrderFormUpdated-FetalScenario-Example" /> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <status value="active" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="rare-disease-non-wgs" /> <display value="Rare Disease - Non-WGS" /> </coding> </category> <priority value="urgent" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R21" /> <display value="Fetal anomalies with a likely genetic cause" /> </coding> </code> <subject> <reference value="Patient/Patient-FoetusOfRyanneBoulder-Example" /> <identifier> <system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" /> <value value="FT-RWT13521" /> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX" /> </identifier> </assigner> </identifier> </subject> <authoredOn value="2023-09-25" /> <requester> <reference value="PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example" /> </requester> <reasonCode> <coding> <system value="http://snomed.info/sct" /> <code value="243787009" /> <display value="Antenatal screening" /> </coding> </reasonCode> <supportingInfo> <reference value="Observation/Observation-HistoryOfFetalLoss-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnionRyanneBoulder-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-GenomicEthnicity-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-PregnancyConfirmation-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransplant-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoFirstTrimesterFetalAnomalies-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoSecondTrimesterFetalAnomalies-Example" /> </supportingInfo> <supportingInfo> <reference value="Procedure/Procedure-InVitroFertilisation-Example" /> </supportingInfo> <supportingInfo> <reference value="Specimen/Specimen-BloodEDTA-Example" /> </supportingInfo> <supportingInfo> <reference value="Specimen/Specimen-RyanneBoulderSaliva-Example" /> </supportingInfo> <supportingInfo> <reference value="Specimen/Specimen-RyanneBoulderPartnerSaliva-Example" /> </supportingInfo> <note> <text value="No family history of relevant testing" /> </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> <method value="POST" /> <url value="ServiceRequest" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-PregnancyConfirmation-Example" /> <resource> <Observation> <id value="Observation-PregnancyConfirmation-Example" /> <status value="final" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="77386006" /> <display value="Pregnancy" /> </coding> </code> <subject> <reference value="Patient/Patient-RyanneBoulder-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307687" /> </identifier> </subject> <effectiveDateTime value="2023-09-25" /> <component> <code> <coding> <system value="http://snomed.info/sct" /> <code value="720451000000102" /> <display value="Assisted conception" /> </coding> </code> </component> <component> <code> <coding> <system value="http://snomed.info/sct" /> <code value="226081000000107" /> <display value="Gestational age" /> </coding> </code> <valueQuantity> <value value="87" /> <unit value="day" /> <system value="http://unitsofmeasure.org" /> <code value="d" /> </valueQuantity> </component> <component> <code> <coding> <system value="http://snomed.info/sct" /> <code value="161714006" /> <display value="Estimated date of delivery" /> </coding> </code> <valueDateTime value="2024-05-01" /> </component> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-NonConsanguinousUnion-Example" /> <resource> <Observation> <id value="Observation-NonConsanguinousUnion-Example" /> <status value="final" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="842009" /> <display value="Consanguinity" /> </coding> </code> <subject> <reference value="Patient/Patient-FoetusOfRyanneBoulder-Example" /> <identifier> <system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" /> <value value="FT-RWT13521" /> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX" /> </identifier> </assigner> </identifier> </subject> <effectiveDateTime value="2023-09-25" /> <valueBoolean value="false" /> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-NoTransplant-Example" /> <resource> <Observation> <id value="Observation-NoTransplant-Example" /> <status value="final" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="77465005" /> <display value="Transplantation" /> </coding> </code> <subject> <reference value="Patient/Patient-RyanneBoulder-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307687" /> </identifier> </subject> <effectiveDateTime value="2023-09-25" /> <valueBoolean value="false" /> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-NoFirstTrimesterFetalAnomalies-Example" /> <resource> <Observation> <id value="Observation-NoFirstTrimesterFetalAnomalies-Example" /> <status value="final" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="609520005" /> <display value="Disorder of fetal structure" /> </coding> <text value="First Trimester Anomalies?" /> </code> <subject> <reference value="Patient/Patient-RyanneBoulder-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307687" /> </identifier> </subject> <effectiveDateTime value="2023-09-25" /> <valueBoolean value="false" /> <component> <code> <coding> <system value="http://snomed.info/sct" /> <code value="255246003" /> <display value="First trimester" /> </coding> </code> </component> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-NoSecondTrimesterFetalAnomalies-Example" /> <resource> <Observation> <id value="Observation-NoSecondTrimesterFetalAnomalies-Example" /> <status value="final" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="609520005" /> <display value="Disorder of fetal structure" /> </coding> <text value="Second Trimester Anomalies?" /> </code> <subject> <reference value="Patient/Patient-RyanneBoulder-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307687" /> </identifier> </subject> <effectiveDateTime value="2023-09-25" /> <valueBoolean value="false" /> <component> <code> <coding> <system value="http://snomed.info/sct" /> <code value="255247007" /> <display value="Second trimester" /> </coding> </code> </component> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Procedure/Procedure-InVitroFertilisation-Example" /> <resource> <Procedure> <id value="Procedure-InVitroFertilisation-Example" /> <status value="completed" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="52637005" /> <display value="In vitro fertilisation" /> </coding> </code> <subject> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307687" /> </identifier> </subject> <performedDateTime value="2023-09-25" /> <note> <text value="Woman`s own egg" /> </note> </Procedure> </resource> <request> <method value="POST" /> <url value="Procedure" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Specimen/Specimen-BloodEDTA-Example" /> <resource> <Specimen> <id value="Specimen-BloodEDTA-Example" /> <identifier> <system value="https://fhir.kingstonhospital.nhs.uk/Id/specimenId" /> <value value="ROA-69050-216738" /> </identifier> <status value="unavailable" /> <type> <coding> <system value="http://snomed.info/sct" /> <code value="445295009" /> <display value="Blood specimen with EDTA" /> </coding> </type> <subject> <reference value="Patient/Patient-RyanneBoulder-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307687" /> </identifier> </subject> <request> <reference value="ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example" /> </request> </Specimen> </resource> <request> <method value="POST" /> <url value="Specimen" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Specimen/Specimen-RyanneBoulderParnerSaliva-Example" /> <resource> <Specimen> <id value="Specimen-RyanneBoulderParnerSaliva-Example" /> <identifier> <system value="https://fhir.kingstonhospital.nhs.uk//Id/specimenId" /> <value value="ROA-69050-FTH-RWT13521" /> </identifier> <status value="available" /> <type> <coding> <system value="http://snomed.info/sct" /> <code value="119342007" /> <display value="Saliva specimen" /> </coding> </type> <subject> <reference value="Patient/Patient-RyanneBoulderPartner-Example" /> </subject> <request> <reference value="ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example" /> </request> <container> <description value="Container:ROA-69050-FTH-RWT13521 contains Saliva for Father" /> </container> </Specimen> </resource> <request> <method value="POST" /> <url value="Specimen" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/RelatedPerson/RelatedPerson-RyanneBoulder-Example" /> <resource> <RelatedPerson> <id value="RelatedPerson-RyanneBoulder-Example" /> <patient> <identifier> <system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" /> <value value="FT-RWT13521" /> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX" /> </identifier> </assigner> </identifier> </patient> <relationship> <coding> <system value="http://terminology.hl7.org/CodeSystem/v3-RoleCode" /> <code value="NMTHF" /> <display value="natural mother of fetus" /> </coding> </relationship> </RelatedPerson> </resource> <request> <method value="POST" /> <url value="RelatedPerson" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/RelatedPerson/RelatedPerson-RyanneBoulderPartner-Example" /> <resource> <RelatedPerson> <id value="RelatedPerson-RyanneBoulderPartner-Example" /> <patient> <identifier> <system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" /> <value value="FT-RWT13521" /> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX" /> </identifier> </assigner> </identifier> </patient> <relationship> <coding> <system value="http://terminology.hl7.org/CodeSystem/v3-RoleCode" /> <code value="NFTHF" /> <display value="natural father of fetus" /> </coding> </relationship> </RelatedPerson> </resource> <request> <method value="POST" /> <url value="RelatedPerson" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnionRyanneBoulder-Example" /> <resource> <FamilyMemberHistory> <id value="FamilyMemberHistory-NonConsanguinousUnionRyanneBoulder-Example" /> <extension url="http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation"> <valueReference> <reference value="Observation/Observation-NonConsanguinousUnion-Example" /> </valueReference> </extension> <status value="completed" /> <patient> <reference value="Patient/Patient-FoetusOfRyanneBoulder-Example" /> <identifier> <system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" /> <value value="FT-RWT13521" /> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX" /> </identifier> </assigner> </identifier> </patient> <relationship> <coding> <system value="http://terminology.hl7.org/CodeSystem/v3-RoleCode" /> <code value="NMTHF" /> <display value="natural mother of fetus" /> </coding> </relationship> </FamilyMemberHistory> </resource> <request> <method value="POST" /> <url value="FamilyMemberHistory" /> </request> </entry> </Bundle>