diff --git a/Bundle/Bundle-NonWGSTestOrderForm-Example.json b/Bundle/Bundle-NonWGSTestOrderForm-Example.json index 31e8b50..7ed65c2 100644 --- a/Bundle/Bundle-NonWGSTestOrderForm-Example.json +++ b/Bundle/Bundle-NonWGSTestOrderForm-Example.json @@ -1,572 +1,568 @@ { - "resourceType": "Bundle", - "id": "Bundle-NonWGSTestOrderForm-Example", - "type": "transaction", - "entry": [ - { - "fullUrl": "http://example.org/fhir/PractitionerRole/PractitionerRole-GeneSmithENT-Example", - "resource": { - "resourceType": "PractitionerRole", - "id": "PractitionerRole-GeneSmithENT-Example", - "practitioner": { - "identifier": { - "system": "https://fhir.nhs.uk/Id/sds-user-id", - "value": "9999999999" - }, - "display": "Dr. Gene Smith" - }, - "organization": { - "identifier": { - "system": "https://fhir.nhs.uk/Id/ods-organization-code", - "value": "RGT01" - }, - "display": "Addenbrooke's Hospital" - }, - "specialty": [ - { - "coding": [ - { - "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode", - "code": "120", - "display": "Ear Nose and Throat" - } - ] - } - ], - "telecom": [ - { - "system": "phone", - "value": "01223586638" - }, - { - "system": "email", - "value": "gene.smith@nhs.net" - }, + "resourceType": "Bundle", + "id": "Bundle-NonWGSTestOrderForm-Example", + "type": "transaction", + "entry": [ + { + "fullUrl": "http://example.org/fhir/PractitionerRole/PractitionerRole-GeneSmithENT-Example", + "resource": { + "resourceType": "PractitionerRole", + "id": "PractitionerRole-GeneSmithENT-Example", + "practitioner": { + "identifier": { + "system": "https://fhir.nhs.uk/Id/sds-user-id", + "value": "9999999999" + }, + "display": "Dr. Gene Smith" + }, + "organization": { + "identifier": { + "system": "https://fhir.nhs.uk/Id/ods-organization-code", + "value": "RGT01" + }, + "display": "Addenbrooke's Hospital" + }, + "specialty": [ + { + "coding": [ + { + "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode", + "code": "120", + "display": "Ear Nose and Throat" + } + ] + } + ], + "telecom": [ + { + "system": "phone", + "value": "01223586638" + }, + { + "system": "email", + "value": "gene.smith@nhs.net" + }, + { + "system": "email", + "value": "Add-tr.entsecretaries@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-MeirLieberman-Example", + "resource": { + "resourceType": "Patient", + "id": "Patient-MeirLieberman-Example", + "extension": [ + { + "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex", + "valueCodeableConcept": { + "coding": [ + { + "system": "http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender", + "code": "M", + "display": "Male" + } + ] + } + }, + { + "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": "9449307873", + "extension": [ + { + "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus", + "valueCodeableConcept": { + "coding": [ { - "system": "email", - "value": "Add-tr.entsecretaries@nhs.net", - "extension": [ - { - "url": "http://hl7.org/fhir/StructureDefinition/contactpoint-comment", - "valueString": "reporting" - } - ] + "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland", + "version": "1.1.1", + "code": "01", + "display": "Number present and verified" } - ] + ] + } + } + ] + }, + { + "system": "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", + "value": "RGT012423", + "assigner": { + "identifier": { + "system": "https://fhir.nhs.uk/Id/ods-organization-code", + "value": "RGT01" + } + } + } + ], + "name": [ + { + "given": [ + "Meir", + "Anah" + ], + "family": "Lieberman" + } + ], + "birthDate": "2005-12-19", + "deceasedBoolean": false, + "address": [ + { + "line": [ + "1 Spinney Close", + "Worcester Park" + ], + "city": "Surrey", + "postalCode": "KT4 7BS" + } + ], + "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/9449307873" }, - "request": { - "method": "POST", - "url": "PractitionerRole" + "type": "seealso" + } + ] + }, + "request": { + "method": "POST", + "url": "Patient", + "ifNoneExist": "Patient?identifier=https://fhir.nhs.uk/Id/nhs-number|9449307873" + } + }, + { + "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" } + ] }, - { - "fullUrl": "http://example.org/fhir/Patient/Patient-MeirLieberman-Example", - "resource": { - "resourceType": "Patient", - "id": "Patient-MeirLieberman-Example", - "extension": [ - { - "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex", - "valueCodeableConcept": { - "coding": [ - { - "system": "http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender", - "code": "M", - "display": "Male" - } - ] - } - }, - { - "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": "9449307873", - "extension": [ - { - "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus", - "valueCodeableConcept": { - "coding": [ - { - "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland", - "version": "1.1.1", - "code": "01", - "display": "Number present and verified" - } - ] - } - } - ] - }, - { - "system": "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", - "value": "RGT012423", - "assigner": { - "identifier": { - "system": "https://fhir.nhs.uk/Id/ods-organization-code", - "value": "RGT01" - } - } - }, - { - "system": "https://fhir.nhs.uk/Id/genomics-pedigree-number", - "value": "P12345" - } - ], - "name": [ - { - "given": [ - "Meir", - "Anah" - ], - "family": "Lieberman" - } - ], - "birthDate": "2005-12-19", - "deceasedBoolean": false, - "address": [ - { - "line": [ - "1 Spinney Close", - "Worcester Park" - ], - "city": "Surrey", - "postalCode": "KT4 7BS" - } - ], - "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/9449307873" - }, - "type": "seealso" - } - ] - }, - "request": { - "method": "POST", - "url": "Patient", - "ifNoneExist": "Patient?identifier=https://fhir.nhs.uk/Id/nhs-number|9449307873" + "subject": { + "reference": "Patient/Patient-MeirLieberman-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307873" + } + }, + "valueString": "unknown" + }, + "request": { + "method": "POST", + "url": "Observation" + } + }, + { + "fullUrl": "http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-Example", + "resource": { + "resourceType": "ServiceRequest", + "id": "ServiceRequest-NonWGSTestOrderForm-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", + "display": "Rare Disease - Non-WGS" + } + ] + }, + { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics", + "code": "diagnostic", + "display": "Diagnostic" + } + ] + } + ], + "priority": "routine", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", + "code": "R67.2", + "display": "Monogenic hearing loss", + "version": "7" } + ] }, - { - "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-MeirLieberman-Example", - "identifier": { - "system": "https://fhir.nhs.uk/Id/nhs-number", - "value": "9449307873" - } - }, - "valueString": "unknown" - }, - "request": { - "method": "POST", - "url": "Observation" + "subject": { + "reference": "Patient/Patient-MeirLieberman-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307873" + } + }, + "authoredOn": "2023-08-05", + "requester": { + "reference": "PractitionerRole/PractitionerRole-GeneSmithENT-Example" + }, + "supportingInfo": [ + { + "reference": "Condition/Condition-MonogenicHearingLoss-Example" + }, + { + "reference": "Observation/Observation-GenomicEthnicity-Example" + }, + { + "reference": "Observation/Observation-NoPregnancy-Example" + }, + { + "reference": "Observation/Observation-NoTransplant-Example" + }, + { + "reference": "Observation/Observation-NoTransfusion-Example" + }, + { + "reference": "Condition/Condition-HearingLoss-Example" + } + ], + "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/Patient in need of test...example" + } + ] + }, + "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" } + ] }, - { - "fullUrl": "http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-Example", - "resource": { - "resourceType": "ServiceRequest", - "id": "ServiceRequest-NonWGSTestOrderForm-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", - "display": "Rare Disease - Non-WGS" - } - ] - }, - { - "coding": [ - { - "system": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics", - "code": "diagnostic", - "display": "Diagnostic" - } - ] - } - ], - "priority": "routine", - "code": { - "coding": [ - { - "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", - "code": "R67.2", - "display": "Monogenic hearing loss", - "version": "7" - } - ] - }, - "subject": { - "reference": "Patient/Patient-MeirLieberman-Example", - "identifier": { - "system": "https://fhir.nhs.uk/Id/nhs-number", - "value": "9449307873" - } - }, - "authoredOn": "2023-08-05", - "requester": { - "reference": "PractitionerRole/PractitionerRole-GeneSmithENT-Example" - }, - "supportingInfo": [ - { - "reference": "Condition/Condition-MonogenicHearingLoss-Example" - }, - { - "reference": "Observation/Observation-GenomicEthnicity-Example" - }, - { - "reference": "Observation/Observation-NoPregnancy-Example" - }, - { - "reference": "Observation/Observation-NoTransplant-Example" - }, - { - "reference": "Observation/Observation-NoTransfusion-Example" - }, - { - "reference": "Condition/Condition-HearingLoss-Example" - } - ], - "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/Patient in need of test...example" - } - ] - }, - "request": { - "method": "POST", - "url": "ServiceRequest" + "subject": { + "reference": "Patient/Patient-MeirLieberman-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307873" + } + }, + "effectiveDateTime": "2023-08-05" + }, + "request": { + "method": "POST", + "url": "Observation" + } + }, + { + "fullUrl": "http://example.org/fhir/Condition/Condition-MonogenicHearingLoss-Example", + "resource": { + "resourceType": "Condition", + "id": "Condition-MonogenicHearingLoss-Example", + "clinicalStatus": { + "coding": [ + { + "system": "http://terminology.hl7.org/CodeSystem/condition-clinical", + "code": "inactive", + "display": "inactive" } + ] }, - { - "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" - } - ] - }, - "subject": { - "reference": "Patient/Patient-MeirLieberman-Example", - "identifier": { - "system": "https://fhir.nhs.uk/Id/nhs-number", - "value": "9449307873" - } - }, - "effectiveDateTime": "2023-08-05" - }, - "request": { - "method": "POST", - "url": "Observation" + "verificationStatus": { + "coding": [ + { + "system": "http://terminology.hl7.org/CodeSystem/condition-ver-status", + "code": "provisional", + "display": "Provisional" } + ] }, - { - "fullUrl": "http://example.org/fhir/Condition/Condition-MonogenicHearingLoss-Example", - "resource": { - "resourceType": "Condition", - "id": "Condition-MonogenicHearingLoss-Example", - "clinicalStatus": { - "coding": [ - { - "system": "http://terminology.hl7.org/CodeSystem/condition-clinical", - "code": "inactive", - "display": "inactive" - } - ] - }, - "verificationStatus": { - "coding": [ - { - "system": "http://terminology.hl7.org/CodeSystem/condition-ver-status", - "code": "provisional", - "display": "Provisional" - } - ] - }, - "code": { - "coding": [ - { - "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", - "code": "R67.2", - "display": "Monogenic hearing loss", - "version": "7" - } - ] - }, - "subject": { - "reference": "Patient/Patient-MeirLieberman-Example", - "identifier": { - "system": "https://fhir.nhs.uk/Id/nhs-number", - "value": "9449307873" - } - } - }, - "request": { - "method": "POST", - "url": "Condition" + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", + "code": "R67.2", + "display": "Monogenic hearing loss", + "version": "7" } + ] }, - { - "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" - } - ] - }, - "subject": { - "reference": "Patient/Patient-MeirLieberman-Example", - "identifier": { - "system": "https://fhir.nhs.uk/Id/nhs-number", - "value": "9449307873" - } - }, - "effectiveDateTime": "2023-08-05", - "valueBoolean": false - }, - "request": { - "method": "POST", - "url": "Observation" + "subject": { + "reference": "Patient/Patient-MeirLieberman-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307873" + } + } + }, + "request": { + "method": "POST", + "url": "Condition" + } + }, + { + "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" } + ] }, - { - "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": "416128008", - "display": "No history of procedure" - } - ] - }, - "valueCodeableConcept": { - "coding": [ - { - "system": "http://snomed.info/sct", - "code": "263903005", - "display": "Transplant" - } - ] - }, - "subject": { - "reference": "Patient/Patient-MeirLieberman-Example", - "identifier": { - "system": "https://fhir.nhs.uk/Id/nhs-number", - "value": "9449307873" - } - }, - "effectiveDateTime": "2023-08-05" - }, - "request": { - "method": "POST", - "url": "Observation" + "subject": { + "reference": "Patient/Patient-MeirLieberman-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307873" + } + }, + "effectiveDateTime": "2023-08-05", + "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": "416128008", + "display": "No history of procedure" } + ] }, - { - "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" - } - ] - }, - "valueCodeableConcept": { - "coding": [ - { - "system": "http://snomed.info/sct", - "code": "303955003", - "display": "Transfusion - action" - } - ] - }, - "subject": { - "reference": "Patient/Patient-MeirLieberman-Example", - "identifier": { - "system": "https://fhir.nhs.uk/Id/nhs-number", - "value": "9449307873" - } - }, - "effectiveDateTime": "2023-08-05" - }, - "request": { - "method": "POST", - "url": "Observation" + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "263903005", + "display": "Transplant" } + ] }, - { - "fullUrl": "http://example.org/fhir/Condition/Condition-HearingLoss-Example", - "resource": { - "resourceType": "Condition", - "id": "Condition-HearingLoss-Example", - "code": { - "coding": [ - { - "system": "http://snomed.info/sct", - "code": "95820000", - "display": "Bilateral hearing loss" - } - ] - }, - "subject": { - "reference": "Patient/Patient-MeirLieberman-Example", - "identifier": { - "system": "https://fhir.nhs.uk/Id/nhs-number", - "value": "9449307873" - } - }, - "note": [ - { - "text": "hearing loss since childhood (example)" - } - ] - }, - "request": { - "method": "POST", - "url": "Condition" + "subject": { + "reference": "Patient/Patient-MeirLieberman-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307873" + } + }, + "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" } + ] }, - { - "fullUrl": "http://example.org/fhir/Specimen/Specimen-BloodEDTA-Example", - "resource": { - "resourceType": "Specimen", - "id": "Specimen-BloodEDTA-Example", - "identifier": [ - { - "system": "https://fhir.add.nhs.uk/Id/specimenId", - "value": "RGT03135" - } - ], - "status": "unavailable", - "type": { - "coding": [ - { - "system": "http://snomed.info/sct", - "code": "119297000", - "display": "Blood specimen" - } - ] - }, - "subject": { - "reference": "Patient/Patient-MeirLieberman-Example", - "identifier": { - "system": "https://fhir.nhs.uk/Id/nhs-number", - "value": "9449307873" - } - }, - "request": [ - { - "reference": "ServiceRequest/ServiceRequest-NonWGSTestOrderForm-Example" - } - ], - "container": [ - { - "additiveCodeableConcept": { - "coding": [ - { - "system": "http://snomed.info/sct", - "code": "69519002", - "display": "EDTA" - } - ] - } - } - ] - }, - "request": { - "method": "POST", - "url": "Specimen" + "valueCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "303955003", + "display": "Transfusion - action" } - } - ] + ] + }, + "subject": { + "reference": "Patient/Patient-MeirLieberman-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307873" + } + }, + "effectiveDateTime": "2023-08-05" + }, + "request": { + "method": "POST", + "url": "Observation" + } + }, + { + "fullUrl": "http://example.org/fhir/Condition/Condition-HearingLoss-Example", + "resource": { + "resourceType": "Condition", + "id": "Condition-HearingLoss-Example", + "code": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "95820000", + "display": "Bilateral hearing loss" + } + ] + }, + "subject": { + "reference": "Patient/Patient-MeirLieberman-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307873" + } + }, + "note": [ + { + "text": "hearing loss since childhood (example)" + } + ] + }, + "request": { + "method": "POST", + "url": "Condition" + } + }, + { + "fullUrl": "http://example.org/fhir/Specimen/Specimen-BloodEDTA-Example", + "resource": { + "resourceType": "Specimen", + "id": "Specimen-BloodEDTA-Example", + "identifier": [ + { + "system": "https://fhir.add.nhs.uk/Id/specimenId", + "value": "RGT03135" + } + ], + "status": "unavailable", + "type": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "119297000", + "display": "Blood specimen" + } + ] + }, + "subject": { + "reference": "Patient/Patient-MeirLieberman-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307873" + } + }, + "request": [ + { + "reference": "ServiceRequest/ServiceRequest-NonWGSTestOrderForm-Example" + } + ], + "container": [ + { + "additiveCodeableConcept": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "69519002", + "display": "EDTA" + } + ] + } + } + ] + }, + "request": { + "method": "POST", + "url": "Specimen" + } + } + ] } \ No newline at end of file diff --git a/Bundle/Bundle-TransactionResponseSuccess-Example.json b/Bundle/Bundle-TransactionResponseSuccess-Example.json index d601313..fefa594 100644 --- a/Bundle/Bundle-TransactionResponseSuccess-Example.json +++ b/Bundle/Bundle-TransactionResponseSuccess-Example.json @@ -1,232 +1,228 @@ { - "resourceType": "Bundle", - "id": "Bundle-TransactionResponseSuccess-Example", - "meta": { - "lastUpdated": "2024-01-30T12:01:24Z" - }, - "type": "transaction-response", - "entry": [ - { - "fullUrl": "https://api.service.nhs.uk/genomic-order-management-service/FHIR/R4/ServiceRequest/4d70678c-81e4-4ff4-8c67-17596fd0aa46", - "resource": { - "resourceType": "ServiceRequest", - "id": "4d70678c-81e4-4ff4-8c67-17596fd0aa46", - "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", - "display": "Rare Disease - Non-WGS" - } - ] - }, - { - "coding": [ - { - "system": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics", - "code": "diagnostic", - "display": "Diagnostic" - } - ] - } - ], - "priority": "routine", - "code": { - "coding": [ - { - "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", - "code": "R67.2", - "display": "Monogenic hearing loss", - "version": "7" - } - ] - }, - "subject": { - "reference": "Patient/e87361ea-b6fb-482e-a252-af3199792582", - "identifier": { - "system": "https://fhir.nhs.uk/Id/nhs-number", - "value": "9449307873" - } - }, - "authoredOn": "2023-08-05", - "requester": { - "reference": "PractitionerRole/bbc46b47-42eb-41e5-bee4-efb2d3154254" - }, - "note": [ - { - "text": "No family history of genomic testing" - }, - { - "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/Patient in need of test...example" - } - ] - }, - "response": { - "status": "201 Created", - "location": "ServiceRequest/4d70678c-81e4-4ff4-8c67-17596fd0aa46/", - "lastModified": "2024-01-30T12:01:24Z", - "outcome": { - "resourceType": "OperationOutcome", - "meta": { - "lastUpdated": "2024-01-30T12:01:24Z" - }, - "issue": [ - { - "severity": "information", - "code": "informational", - "diagnostics": "No issues detected during validation." - } - ] + "resourceType": "Bundle", + "id": "Bundle-TransactionResponseSuccess-Example", + "meta": { + "lastUpdated": "2024-01-30T12:01:24Z" + }, + "type": "transaction-response", + "entry": [ + { + "fullUrl": "https://api.service.nhs.uk/genomic-order-management-service/FHIR/R4/ServiceRequest/4d70678c-81e4-4ff4-8c67-17596fd0aa46", + "resource": { + "resourceType": "ServiceRequest", + "id": "4d70678c-81e4-4ff4-8c67-17596fd0aa46", + "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", + "display": "Rare Disease - Non-WGS" + } + ] + }, + { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics", + "code": "diagnostic", + "display": "Diagnostic" + } + ] + } + ], + "priority": "routine", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", + "code": "R67.2", + "display": "Monogenic hearing loss", + "version": "7" } + ] }, - { - "fullUrl": "https://api.service.nhs.uk/genomic-order-management-service/FHIR/R4/Patient/e87361ea-b6fb-482e-a252-af3199792582", - "resource": { - "resourceType": "Patient", - "id": "e87361ea-b6fb-482e-a252-af3199792582", - "extension": [ - { - "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex", - "valueCodeableConcept": { - "coding": [ - { - "system": "http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender", - "code": "M", - "display": "Male" - } - ] - } - }, - { - "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": "9449307873", - "extension": [ - { - "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus", - "valueCodeableConcept": { - "coding": [ - { - "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland", - "version": "1.1.1", - "code": "01", - "display": "Number present and verified" - } - ] - } - } - ] - }, - { - "system": "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", - "value": "RGT012423", - "assigner": { - "identifier": { - "system": "https://fhir.nhs.uk/Id/ods-organization-code", - "value": "RGT01" - } - } - }, - { - "system": "https://fhir.nhs.uk/Id/genomics-pedigree-number", - "value": "P12345" - } - ], - "name": [ - { - "given": [ - "Meir", - "Anah" - ], - "family": "Lieberman" - } - ], - "birthDate": "2005-12-19", - "deceasedBoolean": false, - "address": [ - { - "line": [ - "1 Spinney Close", - "Worcester Park" - ], - "city": "Surrey", - "postalCode": "KT4 7BS" - } - ], - "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": [ + "subject": { + "reference": "Patient/e87361ea-b6fb-482e-a252-af3199792582", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307873" + } + }, + "authoredOn": "2023-08-05", + "requester": { + "reference": "PractitionerRole/bbc46b47-42eb-41e5-bee4-efb2d3154254" + }, + "note": [ + { + "text": "No family history of genomic testing" + }, + { + "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/Patient in need of test...example" + } + ] + }, + "response": { + "status": "201 Created", + "location": "ServiceRequest/4d70678c-81e4-4ff4-8c67-17596fd0aa46/", + "lastModified": "2024-01-30T12:01:24Z", + "outcome": { + "resourceType": "OperationOutcome", + "meta": { + "lastUpdated": "2024-01-30T12:01:24Z" + }, + "issue": [ + { + "severity": "information", + "code": "informational", + "diagnostics": "No issues detected during validation." + } + ] + } + } + }, + { + "fullUrl": "https://api.service.nhs.uk/genomic-order-management-service/FHIR/R4/Patient/e87361ea-b6fb-482e-a252-af3199792582", + "resource": { + "resourceType": "Patient", + "id": "e87361ea-b6fb-482e-a252-af3199792582", + "extension": [ + { + "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex", + "valueCodeableConcept": { + "coding": [ + { + "system": "http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender", + "code": "M", + "display": "Male" + } + ] + } + }, + { + "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": "9449307873", + "extension": [ + { + "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus", + "valueCodeableConcept": { + "coding": [ { - "other": { - "reference": "https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307873" - }, - "type": "seealso" + "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland", + "version": "1.1.1", + "code": "01", + "display": "Number present and verified" } - ] - }, - "response": { - "status": "201 Created", - "location": "Patient/e87361ea-b6fb-482e-a252-af3199792582/", - "lastModified": "2024-01-30T12:01:24Z", - "outcome": { - "resourceType": "OperationOutcome", - "meta": { - "lastUpdated": "2024-01-30T12:01:24Z" - }, - "issue": [ - { - "severity": "information", - "code": "informational", - "diagnostics": "No issues detected during validation." - } - ] + ] } + } + ] + }, + { + "system": "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", + "value": "RGT012423", + "assigner": { + "identifier": { + "system": "https://fhir.nhs.uk/Id/ods-organization-code", + "value": "RGT01" + } + } + } + ], + "name": [ + { + "given": [ + "Meir", + "Anah" + ], + "family": "Lieberman" + } + ], + "birthDate": "2005-12-19", + "deceasedBoolean": false, + "address": [ + { + "line": [ + "1 Spinney Close", + "Worcester Park" + ], + "city": "Surrey", + "postalCode": "KT4 7BS" + } + ], + "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/9449307873" + }, + "type": "seealso" + } + ] + }, + "response": { + "status": "201 Created", + "location": "Patient/e87361ea-b6fb-482e-a252-af3199792582/", + "lastModified": "2024-01-30T12:01:24Z", + "outcome": { + "resourceType": "OperationOutcome", + "meta": { + "lastUpdated": "2024-01-30T12:01:24Z" + }, + "issue": [ + { + "severity": "information", + "code": "informational", + "diagnostics": "No issues detected during validation." } + ] } - ] + } + } + ] } \ No newline at end of file diff --git a/Group/Group-FamilyPedigreeRepresentation-Example.json b/Group/Group-FamilyPedigreeRepresentation-Example.json new file mode 100644 index 0000000..7aa17d7 --- /dev/null +++ b/Group/Group-FamilyPedigreeRepresentation-Example.json @@ -0,0 +1,42 @@ +{ + "resourceType": "Group", + "id": "Group-FamilyPedigreeRepresentation-Example", + "identifier": [ + { + "system": "https://fhir.nhs.uk/Id/genomics-pedigree-number", + "value": "P12345" + } + ], + "active": true, + "type": "person", + "actual": true, + "name": "Family Pedigree Representation", + "member": [ + { + "entity": { + "reference": "Patient/Patient-PheobeSmitham-Example" + }, + "period": { + "start": "2023-10-01" + } + }, + { + "entity": { + "reference": "Patient/Patient-PheobeSmithamFather-Example" + }, + "period": { + "start": "2023-10-01" + } + }, + { + "entity": { + "reference": "Patient/Patient-PheobeSmithamMother-Example" + }, + "period": { + "start": "2025-10-01", + "end":"2025-10-01" + }, + "inactive":true + } + ] +} \ No newline at end of file diff --git a/Patient/Patient-MeirLiebermanPDS-Example.json b/Patient/Patient-MeirLiebermanPDS-Example.json index 3ff73ca..2f58713 100644 --- a/Patient/Patient-MeirLiebermanPDS-Example.json +++ b/Patient/Patient-MeirLiebermanPDS-Example.json @@ -1,67 +1,67 @@ { - "resourceType": "Patient", - "id": "Patient-MeirLiebermanPDS-Example", - "meta": { - "versionId": "2", - "security": [ - { - "system": "http://terminology.hl7.org/CodeSystem/v3-Confidentiality", - "code": "U", - "display": "unrestricted" - } + "resourceType": "Patient", + "id": "Patient-MeirLiebermanPDS-Example", + "meta": { + "versionId": "2", + "security": [ + { + "system": "http://terminology.hl7.org/CodeSystem/v3-Confidentiality", + "code": "U", + "display": "unrestricted" + } + ] + }, + "extension": [ + { + "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex", + "valueCodeableConcept": { + "coding": [ + { + "system": "http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender", + "code": "M", + "display": "Male" + } ] - }, - "extension": [ - { - "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex", - "valueCodeableConcept": { - "coding": [ - { - "system": "http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender", - "code": "M", - "display": "Male" - } - ] - } - } - ], - "identifier": [ + } + } + ], + "identifier": [ + { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307873", + "extension": [ { - "system": "https://fhir.nhs.uk/Id/nhs-number", - "value": "9449307873", - "extension": [ - { - "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus", - "valueCodeableConcept": { - "coding": [ - { - "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland", - "version": "1.1.1", - "code": "01", - "display": "Number present and verified" - } - ] - } - } + "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus", + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland", + "version": "1.1.1", + "code": "01", + "display": "Number present and verified" + } ] + } } - ], - "name": [ - { - "given": [ - "Meir" - ], - "family": "Lieberman" - } - ], - "birthDate": "2005-12-19", - "address": [ - { - "line": [ - "1 Spinney Close", - "Worcester Park" - ], - "city": "Surrey" - } - ] + ] + } + ], + "name": [ + { + "given": [ + "Meir" + ], + "family": "Lieberman" + } + ], + "birthDate": "2005-12-19", + "address": [ + { + "line": [ + "1 Spinney Close", + "Worcester Park" + ], + "city": "Surrey" + } + ] } \ No newline at end of file diff --git a/Patient/Patient-MeirLiebermanStripped-Example.json b/Patient/Patient-MeirLiebermanStripped-Example.json index 1971b21..2c04f89 100644 --- a/Patient/Patient-MeirLiebermanStripped-Example.json +++ b/Patient/Patient-MeirLiebermanStripped-Example.json @@ -1,73 +1,69 @@ { - "resourceType": "Patient", - "id": "Patient-MeirLiebermanStripped-Example", - "extension": [ + "resourceType": "Patient", + "id": "Patient-MeirLiebermanStripped-Example", + "extension": [ + { + "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex", + "valueCodeableConcept": { + "coding": [ + { + "system": "http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender", + "code": "M", + "display": "Male" + } + ] + } + }, + { + "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": "9449307873", + "extension": [ { - "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex", - "valueCodeableConcept": { - "coding": [ - { - "system": "http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender", - "code": "M", - "display": "Male" - } - ] - } - }, - { - "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": "9449307873", - "extension": [ - { - "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus", - "valueCodeableConcept": { - "coding": [ - { - "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland", - "version": "1.1.1", - "code": "01", - "display": "Number present and verified" - } - ] - } - } + "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus", + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland", + "version": "1.1.1", + "code": "01", + "display": "Number present and verified" + } ] - }, - { - "system": "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", - "value": "RGT012423", - "assigner": { - "identifier": { - "system": "https://fhir.nhs.uk/Id/ods-organization-code", - "value": "RGT01" - } - } - }, - { - "system": "https://fhir.nhs.uk/Id/genomics-pedigree-number", - "value": "P12345" + } } - ], - "link": [ - { - "other": { - "reference": "https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307873" - }, - "type": "seealso" + ] + }, + { + "system": "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", + "value": "RGT012423", + "assigner": { + "identifier": { + "system": "https://fhir.nhs.uk/Id/ods-organization-code", + "value": "RGT01" } - ] + } + } + ], + "link": [ + { + "other": { + "reference": "https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307873" + }, + "type": "seealso" + } + ] } \ No newline at end of file