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-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 : 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 : 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 |
| 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 |
| reasonCode |
| 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 |
| supportingInfo |
| reference : Observation/Observation-GenomicEthnicity-Example |
| supportingInfo |
| reference : Observation/Observation-DiseaseStatus-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 (finding) |
| 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/Observation/Observation-DiseaseStatus-Example |
| resource |
| id : Observation-DiseaseStatus-Example |
| status : final |
| 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 |
| effective : 2023-09-06 |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 103310001 |
| display : Patient not affected |
| 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 (situation) |
| 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 (situation) |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 445715009 |
| display : Blood and marrow transplantation (qualifier value) |
| 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 (situation) |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 303955003 |
| display : Transfusion - action (qualifier value) |
| 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 |
{ "resourceType": "Bundle", "id": "Bundle-NonWGSTestOrderForm-Reanalysis-Example", "type": "transaction", "entry": [ { "fullUrl": "http://example.org/fhir/PractitionerRole/PractitionerRole-HazelSmithRenal-Example", "resource": { "resourceType": "PractitionerRole", "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" }, { "system": "email", "value": "Hazel.smith12@nhs.net" }, { "system": "email", "value": "renalseckingston@nhs.net", "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/contactpoint-comment", "valueString": "reporting" } ] }, { "system": "email", "value": "neuroseckingston@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-DemeizaSeo-Example", "resource": { "resourceType": "Patient", "id": "Patient-DemeizaSeo-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": "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", "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": "RWT16378", "assigner": { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RAX" } } } ], "name": [ { "given": [ "Demeiza" ], "family": "Seo" } ], "birthDate": "2011-01-26", "deceasedBoolean": false, "address": [ { "line": [ "1 Aragon Avenue,", "Thames Ditton" ], "city": "Surrey", "postalCode": "KT7 0PY" } ], "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": "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" } }, { "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-DemeizaSeo-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307559" } }, "valueString": "unknown" }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-ReAnalysis-Example", "resource": { "resourceType": "ServiceRequest", "id": "ServiceRequest-NonWGSTestOrderForm-ReAnalysis-Example", "basedOn": [ { "reference": "ServiceRequest/ServiceRequest-NonWGSTestOrderForm-SyndromicEpilepsy-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-england", "display": "NHS England" } ] } } ], "status": "active", "intent": "order", "category": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", "code": "rare-disease-non-wgs" } ] } ], "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" }, "reasonCode": [ { "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" } ], "supportingInfo": [ { "reference": "Observation/Observation-GenomicEthnicity-Example" }, { "reference": "Observation/Observation-DiseaseStatus-Example" }, { "reference": "Observation/Observation-NoPregnancy-Example" }, { "reference": "Observation/Observation-NonConsanguinousUnion-Example" }, { "reference": "Observation/Observation-NoBoneMarrowTransplant-Example" }, { "reference": "Observation/Observation-NoTransfusion-Example" } ], "specimen": [ { "display": "No Sample Required" } ], "note": [ { "text": "No family history of genomic testing" }, { "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" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-NoPregnancy-Example", "resource": { "resourceType": "Observation", "id": "Observation-NoPregnancy-Example", "status": "final", "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "60001007", "display": "Not pregnant (finding)" } ] }, "subject": { "reference": "Patient/Patient-DemeizaSeo-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307559" } }, "effectiveDateTime": "2023-09-06" }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-DiseaseStatus-Example", "resource": { "resourceType": "Observation", "id": "Observation-DiseaseStatus-Example", "status": "final", "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" } }, "effectiveDateTime": "2023-09-06", "valueCodeableConcept": { "coding": [ { "system": "http://snomed.info/sct", "code": "103310001", "display": "Patient not affected" } ] } }, "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": "160475008", "display": "Family history: Consanguinity (situation)" } ] }, "subject": { "reference": "Patient/Patient-DemeizaSeo-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307559" } }, "effectiveDateTime": "2023-09-06", "valueBoolean": false }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-NoBoneMarrowTransplant-Example", "resource": { "resourceType": "Observation", "id": "Observation-NoBoneMarrowTransplant-Example", "status": "final", "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "416128008", "display": "No history of procedure (situation)" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://snomed.info/sct", "code": "445715009", "display": "Blood and marrow transplantation (qualifier value)" } ] }, "subject": { "reference": "Patient/Patient-DemeizaSeo-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307559" } }, "effectiveDateTime": "2023-08-05" }, "request": { "method": "POST", "url": "Observation" } }, { "fullUrl": "http://example.org/fhir/Observation/Observation-NoTransfusion-Example", "resource": { "resourceType": "Observation", "id": "Observation-NoTransfusion-Example", "status": "final", "code": { "coding": [ { "system": "http://snomed.info/sct", "code": "416128008", "display": "No history of procedure (situation)" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://snomed.info/sct", "code": "303955003", "display": "Transfusion - action (qualifier value)" } ] }, "subject": { "reference": "Patient/Patient-DemeizaSeo-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307559" } }, "effectiveDateTime": "2023-09-06" }, "request": { "method": "POST", "url": "Observation" } } ] }
<Bundle xmlns="http://hl7.org/fhir"> <id value="Bundle-NonWGSTestOrderForm-Reanalysis-Example" /> <type value="transaction" /> <entry> <fullUrl value="http://example.org/fhir/PractitionerRole/PractitionerRole-HazelSmithRenal-Example" /> <resource> <PractitionerRole> <id value="PractitionerRole-HazelSmithRenal-Example" /> <practitioner> <identifier> <system value="https://fhir.nhs.uk/Id/sds-user-id" /> <value value="9999999998" /> </identifier> <display value="Dr. Hazel Smith" /> </practitioner> <organization> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX01" /> </identifier> <display value="Kingston Hospital NHS Foundation Trust" /> </organization> <specialty> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode" /> <code value="361" /> <display value="Renal Medicine" /> </coding> </specialty> <telecom> <system value="phone" /> <value value="02085467711" /> </telecom> <telecom> <system value="email" /> <value value="Hazel.smith12@nhs.net" /> </telecom> <telecom> <extension url="http://hl7.org/fhir/StructureDefinition/contactpoint-comment"> <valueString value="reporting" /> </extension> <system value="email" /> <value value="renalseckingston@nhs.net" /> </telecom> <telecom> <extension url="http://hl7.org/fhir/StructureDefinition/contactpoint-comment"> <valueString value="reporting" /> </extension> <system value="email" /> <value value="neuroseckingston@nhs.net" /> </telecom> </PractitionerRole> </resource> <request> <method value="POST" /> <url value="PractitionerRole" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Patient/Patient-DemeizaSeo-Example" /> <resource> <Patient> <id value="Patient-DemeizaSeo-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="R" /> <display value="Other Ethnic Groups - Chinese" /> </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="9449306559" /> </identifier> <identifier> <system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" /> <value value="RWT16378" /> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX" /> </identifier> </assigner> </identifier> <name> <family value="Seo" /> <given value="Demeiza" /> </name> <birthDate value="2011-01-26" /> <deceasedBoolean value="false" /> <address> <line value="1 Aragon Avenue," /> <line value="Thames Ditton" /> <city value="Surrey" /> <postalCode value="KT7 0PY" /> </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="TP123" /> </identifier> <display value="123 Test Practice" /> </generalPractitioner> <link> <other> <reference value="https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307559" /> </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|9449307559" /> </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-DemeizaSeo-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307559" /> </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-ReAnalysis-Example" /> <resource> <ServiceRequest> <id value="ServiceRequest-NonWGSTestOrderForm-ReAnalysis-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-england" /> <display value="NHS England" /> </coding> </valueCodeableConcept> </extension> <basedOn> <reference value="ServiceRequest/ServiceRequest-NonWGSTestOrderForm-SyndromicEpilepsy-Example" /> </basedOn> <status value="active" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="rare-disease-non-wgs" /> </coding> </category> <priority value="routine" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <version value="7" /> <code value="R387" /> <display value="Re-analysis" /> </coding> </code> <orderDetail> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <version value="7" /> <code value="R59" /> <display value="Early onset or syndromic epilepsy" /> </coding> </orderDetail> <subject> <reference value="Patient/Patient-DemeizaSeo-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449306559" /> </identifier> </subject> <authoredOn value="2023-09-06T09:00:00Z" /> <requester> <reference value="PractitionerRole/PractitionerRole-HazelSmithRenal-Example" /> </requester> <reasonCode> <coding> <system value="https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics" /> <code value="new-treatment-clinical-management" /> <display value="New Treatment/Clinical Management" /> </coding> <text value="Significant new treatment and or clinical management implication for the patient.Please provide details/treatment for management of epilepsy" /> </reasonCode> <supportingInfo> <reference value="Observation/Observation-GenomicEthnicity-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-DiseaseStatus-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoPregnancy-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoBoneMarrowTransplant-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransfusion-Example" /> </supportingInfo> <specimen> <display value="No Sample Required" /> </specimen> <note> <text value="No family history of genomic testing" /> </note> <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> <method value="POST" /> <url value="ServiceRequest" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-NoPregnancy-Example" /> <resource> <Observation> <id value="Observation-NoPregnancy-Example" /> <status value="final" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="60001007" /> <display value="Not pregnant (finding)" /> </coding> </code> <subject> <reference value="Patient/Patient-DemeizaSeo-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307559" /> </identifier> </subject> <effectiveDateTime value="2023-09-06" /> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-DiseaseStatus-Example" /> <resource> <Observation> <id value="Observation-DiseaseStatus-Example" /> <status value="final" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <version value="7" /> <code value="R67.2" /> <display value="Monogenic hearing loss" /> </coding> </code> <subject> <reference value="Patient/Patient-DemeizaSeo-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307559" /> </identifier> </subject> <effectiveDateTime value="2023-09-06" /> <valueCodeableConcept> <coding> <system value="http://snomed.info/sct" /> <code value="103310001" /> <display value="Patient not affected" /> </coding> </valueCodeableConcept> </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="160475008" /> <display value="Family history: Consanguinity (situation)" /> </coding> </code> <subject> <reference value="Patient/Patient-DemeizaSeo-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307559" /> </identifier> </subject> <effectiveDateTime value="2023-09-06" /> <valueBoolean value="false" /> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-NoBoneMarrowTransplant-Example" /> <resource> <Observation> <id value="Observation-NoBoneMarrowTransplant-Example" /> <status value="final" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="416128008" /> <display value="No history of procedure (situation)" /> </coding> </code> <subject> <reference value="Patient/Patient-DemeizaSeo-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307559" /> </identifier> </subject> <effectiveDateTime value="2023-08-05" /> <valueCodeableConcept> <coding> <system value="http://snomed.info/sct" /> <code value="445715009" /> <display value="Blood and marrow transplantation (qualifier value)" /> </coding> </valueCodeableConcept> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> <entry> <fullUrl value="http://example.org/fhir/Observation/Observation-NoTransfusion-Example" /> <resource> <Observation> <id value="Observation-NoTransfusion-Example" /> <status value="final" /> <code> <coding> <system value="http://snomed.info/sct" /> <code value="416128008" /> <display value="No history of procedure (situation)" /> </coding> </code> <subject> <reference value="Patient/Patient-DemeizaSeo-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307559" /> </identifier> </subject> <effectiveDateTime value="2023-09-06" /> <valueCodeableConcept> <coding> <system value="http://snomed.info/sct" /> <code value="303955003" /> <display value="Transfusion - action (qualifier value)" /> </coding> </valueCodeableConcept> </Observation> </resource> <request> <method value="POST" /> <url value="Observation" /> </request> </entry> </Bundle>