diff --git a/AuditEvent/AuditEvent-ServiceRequestUpdate-Example.json b/AuditEvent/AuditEvent-ServiceRequestUpdate-Example.json new file mode 100644 index 00000000..bf0dc038 --- /dev/null +++ b/AuditEvent/AuditEvent-ServiceRequestUpdate-Example.json @@ -0,0 +1,56 @@ +{ + "resourceType": "AuditEvent", + "id": "AuditEvent-ServiceRequestUpdate-Example", + "type": { + "system": "http://terminology.hl7.org/CodeSystem/audit-event-type", + "code": "rest", + "display": "RESTful Operation" + }, + "action": "U", + "recorded": "2023-08-10T11:10:00Z", + "outcome": "0", + "agent": [ + { + "type": { + "coding": [ + { + "system": "http://terminology.hl7.org/CodeSystem/v3-ParticipationType", + "code": "AUT", + "display": "author (originator)" + } + ] + }, + "who": { + "reference": "PractitionerRole/PractitionerRole-TestClinicalScientist-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/sds-user-id", + "value": "9999999997" + } + }, + "name": "Test Clinical Scientist", + "requestor": true + } + ], + "source": { + "observer": { + "reference": "PractitionerRole/PractitionerRole-TestClinicalScientist-Example" + } + }, + "entity": [ + { + "what": { + "reference": "ServiceRequest/ServiceRequest-SavedTestOrderUpdated-Example" + }, + "type": { + "system": "http://hl7.org/fhir/resource-types", + "code": "ServiceRequest", + "display": "ServiceRequest" + }, + "role": { + "system": "http://terminology.hl7.org/CodeSystem/object-role", + "code": "20", + "display": "Job" + } + } + ] +} \ No newline at end of file diff --git a/AuditEvent/AuditEvent-TaskUpdate-Example.json b/AuditEvent/AuditEvent-TaskUpdate-Example.json new file mode 100644 index 00000000..16f2044e --- /dev/null +++ b/AuditEvent/AuditEvent-TaskUpdate-Example.json @@ -0,0 +1,56 @@ +{ + "resourceType": "AuditEvent", + "id": "AuditEvent-TaskUpdate-Example", + "type": { + "system": "http://terminology.hl7.org/CodeSystem/audit-event-type", + "code": "rest", + "display": "RESTful Operation" + }, + "action": "U", + "recorded": "2023-08-08T15:43:00Z", + "outcome": "0", + "agent": [ + { + "type": { + "coding": [ + { + "system": "http://terminology.hl7.org/CodeSystem/v3-ParticipationType", + "code": "AUT", + "display": "author (originator)" + } + ] + }, + "who": { + "reference": "PractitionerRole/PractitionerRole-TestClinicalScientist-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/sds-user-id", + "value": "9999999997" + } + }, + "name": "Test Clinical Scientist", + "requestor": true + } + ], + "source": { + "observer": { + "reference": "PractitionerRole/PractitionerRole-TestClinicalScientist-Example" + } + }, + "entity": [ + { + "what": { + "reference": "Task/Task-NonWGSRareDiseaseTestOrderRejected-Example" + }, + "type": { + "system": "http://hl7.org/fhir/resource-types", + "code": "Task", + "display": "Task" + }, + "role": { + "system": "http://terminology.hl7.org/CodeSystem/object-role", + "code": "20", + "display": "Job" + } + } + ] +} \ No newline at end of file diff --git a/Bundle/Bundle-NonWGSTestOrderForm-Example.json b/Bundle/Bundle-NonWGSTestOrderForm-Example.json new file mode 100644 index 00000000..b0afbda0 --- /dev/null +++ b/Bundle/Bundle-NonWGSTestOrderForm-Example.json @@ -0,0 +1,536 @@ +{ + "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": { + "reference": "Practitioner/Practitioner-GeneSmith-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/sds-user-id", + "value": "9999999999" + }, + "display": "Dr. Gene Smith" + }, + "organization": { + "reference": "Organization/Organization-AddenbrookesHospital-Example", + "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", + "use": "work" + } + ] + }, + "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", + "valueCode": "M" + }, + { + "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" + }, + { + "system": "https://fhir.add.nhs.uk/Id/MRN", + "value": "RGT012423" + }, + { + "system": "https://fhir.nhs.uk/Id/genomics-pedigree-number", + "value": "P12345" + } + ], + "name": [ + { + "given": [ + "Meir", + "Anah" + ], + "family": "Lieberman" + } + ], + "gender": "male", + "birthDate": "2005-12-19", + "deceasedBoolean": false, + "address": [ + { + "line": [ + "1 Spinney Close", + "Worcester Park" + ], + "city": "Surrey", + "postalCode": "KT4 7BS" + } + ], + "generalPractitioner": [ + { + "reference": "PractitionerRole/PractitionerRole-AeroSmith-Example", + "identifier": { + "system": "https://fhir.hl7.org.uk/Id/gmp-number", + "value": "G9999999" + }, + "display": "Dr. Aero Smith, 123 Test Practice" + } + ], + "link": [ + { + "other": { + "reference": "https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307873" + }, + "type": "seealso" + } + ] + }, + "request": { + "method": "POST", + "url": "Patient" + } + }, + { + "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" + } + }, + { + "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", + "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": "routine", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", + "code": "R67.2", + "display": "Monogenic hearing loss" + } + ] + }, + "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", + "identifier": { + "system": "https://fhir.nhs.uk/Id/sds-user-id", + "value": "9999999999" + } + }, + "reasonCode": [ + { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "103693007", + "display": "Diagnostic procedure" + } + ] + } + ], + "reasonReference": [ + { + "reference": "Condition/Condition-DiseaseStatus-Example" + } + ], + "supportingInfo": [ + { + "reference": "Observation/Observation-GenomicEthnicity-Example" + }, + { + "reference": "Observation/Observation-NoPregnancy-Example" + }, + { + "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" + }, + { + "reference": "Procedure/Procedure-NoTransplant-Example" + }, + { + "reference": "Procedure/Procedure-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" + } + ] + }, + "subject": { + "reference": "Patient/Patient-MeirLieberman-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307873" + } + }, + "effectiveDateTime": "2023-08-05", + "valueBoolean": true + }, + "request": { + "method": "POST", + "url": "Observation" + } + }, + { + "fullUrl": "http://example.org/fhir/Condition/Condition-DiseaseStatus-Example", + "resource": { + "resourceType": "Condition", + "id": "Condition-DiseaseStatus-Example", + "clinicalStatus": { + "coding": [ + { + "system": "http://terminology.hl7.org/CodeSystem/condition-clinical", + "code": "inactive", + "display": "Inactive" + } + ] + }, + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", + "code": "R67.2", + "display": "Monogenic hearing loss" + } + ] + }, + "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/FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example", + "resource": { + "resourceType": "FamilyMemberHistory", + "id": "FamilyMemberHistory-NonConsanguinousUnion-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-MeirLieberman-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307873" + } + }, + "relationship": { + "coding": [ + { + "system": "http://terminology.hl7.org/CodeSystem/v3-RoleCode", + "code": "PRN", + "display": "parent" + } + ] + } + }, + "request": { + "method": "POST", + "url": "FamilyMemberHistory" + } + }, + { + "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-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/Procedure/Procedure-NoTransplant-Example", + "resource": { + "resourceType": "Procedure", + "id": "Procedure-NoTransplant-Example", + "status": "not-done", + "code": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "77465005", + "display": "Transplantation" + } + ] + }, + "subject": { + "reference": "Patient/Patient-MeirLieberman-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307873" + } + } + }, + "request": { + "method": "POST", + "url": "Procedure" + } + }, + { + "fullUrl": "http://example.org/fhir/Procedure/Procedure-NoTransfusion-Example", + "resource": { + "resourceType": "Procedure", + "id": "Procedure-NoTransfusion-Example", + "status": "not-done", + "code": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "5447007", + "display": "Transfusion" + } + ] + }, + "subject": { + "reference": "Patient/Patient-MeirLieberman-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307873" + } + } + }, + "request": { + "method": "POST", + "url": "Procedure" + } + }, + { + "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": "445295009", + "display": "Blood specimen with EDTA" + } + ] + }, + "subject": { + "reference": "Patient/Patient-MeirLieberman-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307873" + } + }, + "request": { + "reference": "ServiceRequest/ServiceRequest-NonWGSTestOrderForm-Example", + } + }, + "request": { + "method": "POST", + "url": "Specimen" + } + } + ] +} \ No newline at end of file diff --git a/Bundle/Bundle-WGSRoD-Example.json b/Bundle/Bundle-WGSRoD-Example.json new file mode 100644 index 00000000..d9125ae9 --- /dev/null +++ b/Bundle/Bundle-WGSRoD-Example.json @@ -0,0 +1,276 @@ +{ + "resourceType": "Bundle", + "id": "Bundle-WGSRoD-Example", + "type": "transaction", + "entry": [ + { + "fullUrl": "http://example.org/fhir/Consent/Consent-RoDToFollow-Example", + "resource": { + "resourceType": "Consent", + "id": "Consent-RoDToFollow-Example", + "status": "active", + "scope": { + "coding": [ + { + "system": "http://terminology.hl7.org/CodeSystem/consentscope", + "code": "research", + "display": "Research" + } + ] + }, + "category": [ + { + "coding": [ + { + "system": "http://terminology.hl7.org/CodeSystem/consentcategorycodes", + "code": "research", + "display": "Research Information Access" + } + ] + } + ], + "sourceReference": { + "reference": "QuestionnaireResponse/QuestionnaireResponse-RoD-Example" + } + }, + "request": { + "method": "POST", + "url": "Consent" + } + }, + { + "fullUrl": "http://example.org/fhir/QuestionnaireResponse/QuestionnaireResponse-RoD-Example", + "resource": { + "resourceType": "QuestionnaireResponse", + "id": "QuestionnaireResponse-RoD-Example", + "questionnaire": "https://fhir.nhs.uk/Questionnaire/NHSDigital-Questionnaire-Genomics-Example", + "status": "completed", + "subject": { + "reference": "Patient/Patient-LindsaySorrell-Example" + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307946" + } + }, + "authored": "2023-08-21", + "author": { + "identifier": { + "system": "https://fhir.nhs.uk/Id/sds-role-profile-id", + "value": "9999999996" + }, + "display": "Test AHP" + }, + "source": { + "reference": "Patient/Patient-LindsaySorrell-Example" + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307946" + } + }, + "item": [ + { + "linkId": "patientDetails", + "text": "Patient Details", + "item": [ + { + "linkId": "givenName", + "text": "First Name", + "answer": [ + { + "valueString": "Lindsay" + } + ] + }, + { + "linkId": "familyName", + "text": "Last Name", + "answer": [ + { + "valueString": "Sorrell" + } + ] + }, + { + "linkId": "nhs_Number", + "text": "NHS number (or postcode if not not known)", + "answer": [ + { + "valueString": "944 9307 946" + } + ] + }, + { + "linkId": "birthDate", + "text": "Date of Birth", + "answer": [ + { + "valueDate": "2011-04-12" + } + ] + } + ] + }, + { + "linkId": "declaration4", + "text": "Confirmation of Your Genomic Test and Research Choices", + "item": [ + { + "linkId": "confirmation", + "text": "I confirm that I have had the opportunity to discuss information about genomic testing, I agree to the genomic test, and my research choice is indicated below.", + "item": [ + { + "linkId": "researchConfirmation1", + "text": "I have discussed taking part in the National Genomic Research Library. If your answer to A is NO then please ignore B and sign directly below", + "answer": [ + { + "valueBoolean": true + } + ] + }, + { + "linkId": "researchConfirmation2", + "text": "I agree that my data and remainder sample may contribute to the National Genomic Research Library", + "answer": [ + { + "valueBoolean": true + } + ] + } + ] + } + ] + }, + { + "linkId": "isRespondentAttorney", + "text": "Are you completing this form on behalf of someone?", + "answer": [ + { + "valueBoolean": false + } + ] + }, + { + "linkId": "patientValidation", + "text": "Patient Validation", + "item": [ + { + "linkId": "patientNamecombined", + "text": "Patient Name", + "answer": [ + { + "valueString": "Mr. Lindsay Sorrell" + } + ] + }, + { + "linkId": "patientSignature", + "text": "Signature", + "answer": [ + { + "valueString": "NA" + } + ] + }, + { + "linkId": "datePatientCompletedForm", + "text": "Date", + "answer": [ + { + "valueDateTime": "2023-08-21" + } + ] + } + ] + }, + { + "linkId": "declaration5", + "text": "Healthcare professional use only", + "item": [ + { + "linkId": "healthcareProfessional", + "text": "To be completed by the healthcare professional recording the patient’s choices.", + "item": [ + { + "linkId": "patientCategory", + "text": "Patient category", + "answer": [ + { + "valueCoding": { + "system": "https://fhir.nhs.uk/CodeSystem/patient-choice-category-genomics", + "code": "AdultOwnChoice", + "display": "Adult(made their own choice)" + } + } + ] + }, + { + "linkId": "testType", + "text": "Test type", + "answer": [ + { + "valueCoding": { + "system": "https://fhir.nhs.uk/CodeSystem/test-type-genomics", + "code": "RID-WGS", + "display": "Rare and Inherited Diseases - WGS" + } + } + ] + }, + { + "linkId": "remoteConsent", + "text": "Remote consent, recorded remotely by clinician, no patient signature", + "answer": [ + { + "valueBoolean": true + } + ] + }, + { + "linkId": "responsibleClinician", + "text": "Responsible clinician", + "answer": [ + { + "valueString": "Dr Hazel Smith" + } + ] + }, + { + "linkId": "healthcareProfessionalName", + "text": "Healthcare professional name", + "answer": [ + { + "valueString": "Test AHP" + } + ] + }, + { + "linkId": "healthcareProfessionalSignature", + "text": "Signature", + "answer": [ + { + "valueString": "Dr. Hazel Smith" + } + ] + }, + { + "linkId": "datehealthcareProfessionalCompletedForm", + "text": "Date", + "answer": [ + { + "valueDateTime": "2023-08-21" + } + ] + } + ] + } + ] + } + ] + }, + "request": { + "method": "POST", + "url": "QuestionnaireResponse" + } + } + ] +} \ No newline at end of file diff --git a/Bundle/Bundle-WGSTestOrderForm-Example.json b/Bundle/Bundle-WGSTestOrderForm-Example.json new file mode 100644 index 00000000..e35cc9fd --- /dev/null +++ b/Bundle/Bundle-WGSTestOrderForm-Example.json @@ -0,0 +1,690 @@ +{ + "resourceType": "Bundle", + "id": "Bundle-WGSTestOrderForm-Example", + "type": "transaction", + "entry": [ + { + "fullUrl": "http://example.org/fhir/PractitionerRole/PractitionerRole-HazelSmithRenal-Example", + "resource": { + "resourceType": "PractitionerRole", + "id": "PractitionerRole-HazelSmithRenal-Example", + "practitioner": { + "reference": "Practitioner/Practitioner-HazelSmith-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/sds-user-id", + "value": "9999999998" + }, + "display": "Dr. Hazel Smith" + }, + "organization": { + "reference": "Organization/Organization-KingstonHospital-Example", + "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", + "use": "work" + } + ] + }, + "request": { + "method": "POST", + "url": "PractitionerRole" + } + }, + { + "fullUrl": "http://example.org/fhir/Patient/Patient-LindsaySorrell-Example", + "resource": { + "resourceType": "Patient", + "id": "Patient-LindsaySorrell-Example", + "extension": [ + { + "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex", + "valueCode": "M" + }, + { + "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": "9449307946" + }, + { + "system": "https://fhir.add.nhs.uk/Id/MRN", + "value": "RWT14789" + } + ], + "name": [ + { + "given": [ + "Lindsay" + ], + "family": "Sorrell" + } + ], + "gender": "male", + "birthDate": "2011-04-12", + "deceasedBoolean": false, + "address": [ + { + "line": [ + "31 THE AVENUE", + "BERWICK COURT" + ], + "postalCode": "KT4 7BS" + } + ], + "generalPractitioner": [ + { + "reference": "PractitionerRole/PractitionerRole-AeroSmith-Example", + "identifier": { + "system": "https://fhir.hl7.org.uk/Id/gmp-number", + "value": "G9999999" + }, + "display": "Dr. Aero Smith, anywhere place" + } + ], + "link": [ + { + "other": { + "reference": "https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307946" + }, + "type": "seealso" + } + ] + }, + "request": { + "method": "POST", + "url": "Patient" + } + }, + { + "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-LindsaySorrell-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307946" + } + }, + "valueString": "unknown" + }, + "request": { + "method": "POST", + "url": "Observation" + } + }, + { + "fullUrl": "http://example.org/fhir/ServiceRequest/ServiceRequest-WGSTestOrderForm-Example", + "resource": { + "resourceType": "ServiceRequest", + "id": "ServiceRequest-WGSTestOrderForm-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-wgs", + "display": "Rare Disease - WGS" + } + ] + } + ], + "priority": "routine", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", + "code": "R193.4", + "display": "Cystic renal disease" + } + ] + }, + "subject": { + "reference": "Patient/Patient-LindsaySorrell-Example" + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307946" + } + }, + "authoredOn": "2023-08-08", + "requester": { + "reference": "PractitionerRole/PractitionerRole-HazelSmithRenal-Example" + "identifier": { + "system": "https://fhir.nhs.uk/Id/sds-user-id", + "value": "9999999998" + } + }, + "reasonCode": [ + { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "103693007", + "display": "Diagnostic procedure" + } + ] + } + ], + "reasonReference": [ + { + "reference": "Condition/Condition-DiseaseStatus-Example" + } + ], + "supportingInfo": [ + { + "reference": "Observation/Observation-GenomicEthnicity-Example" + }, + { + "reference": "Observation/Observation-NoPregnancy-Example" + }, + { + "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" + }, + { + "reference": "Procedure/Procedure-NoBoneMarrowTransplant-Example" + }, + { + "reference": "Procedure/Procedure-NoTransfusion-Example" + }, + { + "reference": "Observation/Observation-MultipleRenalCysts-Example" + }, + { + "reference": "Observation/Observation-Nephronophthisis-Example" + }, + { + "reference": "Observation/Observation-HepaticCysts-Example" + }, + { + "reference": "Observation/Observation-EnlargedKidney-Example" + }, + { + "reference": "Observation/Observation-RenalInsufficiency-Example" + }, + { + "reference": "Consent/Consent-RoDToFollow-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 diagnoses with ADPKD (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" + } + ] + }, + "subject": { + "reference": "Patient/Patient-LindsaySorrell-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307946" + } + }, + "effectiveDateTime": "2023-08-05", + "valueBoolean": true + }, + "request": { + "method": "POST", + "url": "Observation" + } + }, + { + "fullUrl": "http://example.org/fhir/Condition/Condition-DiseaseStatus-Example", + "resource": { + "resourceType": "Condition", + "id": "Condition-DiseaseStatus-Example", + "clinicalStatus": { + "coding": [ + { + "system": "http://terminology.hl7.org/CodeSystem/condition-clinical", + "code": "inactive", + "display": "Inactive" + } + ] + }, + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", + "code": "R193.4", + "display": "Cystic renal disease" + } + ] + }, + "subject": { + "reference": "Patient/Patient-LindsaySorrell-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307946" + } + } + }, + "request": { + "method": "POST", + "url": "Condition" + } + }, + { + "fullUrl": "http://example.org/fhir/FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example", + "resource": { + "resourceType": "FamilyMemberHistory", + "id": "FamilyMemberHistory-NonConsanguinousUnion-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-LindsaySorrell-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307946" + } + }, + "relationship": { + "coding": [ + { + "system": "http://terminology.hl7.org/CodeSystem/v3-RoleCode", + "code": "PRN", + "display": "parent" + } + ] + } + }, + "request": { + "method": "POST", + "url": "FamilyMemberHistory" + } + }, + { + "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-LindsaySorrell-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307946" + } + }, + "effectiveDateTime": "2023-08-05", + "valueBoolean": false + }, + "request": { + "method": "POST", + "url": "Observation" + } + }, + { + "fullUrl": "http://example.org/fhir/Procedure/Procedure-NoBoneMarrowTransplant-Example", + "resource": { + "resourceType": "Procedure", + "id": "Procedure-NoBoneMarrowTransplant-Example", + "status": "not-done", + "code": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "77465005", + "display": "Transplantation of bone marrow" + } + ] + }, + "subject": { + "reference": "Patient/Patient-LindsaySorrell-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307946" + } + } + }, + "request": { + "method": "POST", + "url": "Procedure" + } + }, + { + "fullUrl": "http://example.org/fhir/Procedure/Procedure-NoTransfusion-Example", + "resource": { + "resourceType": "Procedure", + "id": "Procedure-NoTransfusion-Example", + "status": "not-done", + "code": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "5447007", + "display": "Transfusion" + } + ] + }, + "subject": { + "reference": "Patient/Patient-LindsaySorrell-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307946" + } + } + }, + "request": { + "method": "POST", + "url": "Procedure" + } + }, + { + "fullUrl": "http://example.org/fhir/Observation/Observation-MultipleRenalCysts-Example", + "resource": { + "resourceType": "Observation", + "id": "Observation-MultipleRenalCysts-Example", + "status": "final", + "code": { + "coding": [ + { + "system": "https://hpo.jax.org/app/", + "code": "HP:0005562", + "display": "Multiple renal cysts" + } + ] + }, + "subject": { + "reference": "Patient/Patient-LindsaySorrell-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307946" + } + }, + "valueBoolean": false + }, + "request": { + "method": "POST", + "url": "Observation" + } + }, + { + "fullUrl": "http://example.org/fhir/Observation/Observation-Nephronophthisis-Example", + "resource": { + "resourceType": "Observation", + "id": "Observation-Nephronophthisis-Example", + "status": "final", + "code": { + "coding": [ + { + "system": "https://hpo.jax.org/app/", + "code": "HP:0000090", + "display": "Nephronophthisis" + } + ] + }, + "subject": { + "reference": "Patient/Patient-LindsaySorrell-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307946" + } + }, + "valueBoolean": false + }, + "request": { + "method": "POST", + "url": "Observation" + } + }, + { + "fullUrl": "http://example.org/fhir/Observation/Observation-HepaticCysts-Example", + "resource": { + "resourceType": "Observation", + "id": "Observation-HepaticCysts-Example", + "status": "final", + "code": { + "coding": [ + { + "system": "https://hpo.jax.org/app/", + "code": "HP:0001407", + "display": "Hepatic cysts" + } + ] + }, + "subject": { + "reference": "Patient/Patient-LindsaySorrell-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307946" + } + }, + "valueBoolean": false + }, + "request": { + "method": "POST", + "url": "Observation" + } + }, + { + "fullUrl": "http://example.org/fhir/Observation/Observation-EnlargedKidney-Example", + "resource": { + "resourceType": "Observation", + "id": "Observation-EnlargedKidney-Example", + "status": "final", + "code": { + "coding": [ + { + "system": "https://hpo.jax.org/app/", + "code": "HP:0000105", + "display": "Enlarged kidney" + } + ] + }, + "subject": { + "reference": "Patient/Patient-LindsaySorrell-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307946" + } + }, + "valueBoolean": true + }, + "request": { + "method": "POST", + "url": "Observation" + } + }, + { + "fullUrl": "http://example.org/fhir/Observation/Observation-RenalInsufficiency-Example", + "resource": { + "resourceType": "Observation", + "id": "Observation-RenalInsufficiency-Example", + "status": "final", + "code": { + "coding": [ + { + "system": "https://hpo.jax.org/app/", + "code": "HP:0000083", + "display": "Renal insufficiency" + } + ] + }, + "subject": { + "reference": "Patient/Patient-LindsaySorrell-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307946" + } + }, + "valueBoolean": true + }, + "request": { + "method": "POST", + "url": "Observation" + } + }, + { + "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": "445295009", + "display": "Blood specimen with EDTA" + } + ] + }, + "subject": { + "reference": "Patient/Patient-LindsaySorrell-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307946" + } + }, + "request": { + "reference": "ServiceRequest/ServiceRequest-NonWGSTestOrderForm-Example", + } + }, + "request": { + "method": "POST", + "url": "Specimen" + } + }, + { + "fullUrl": "http://example.org/fhir/Consent/Consent-RoDToFollow-Example", + "resource": { + "resourceType": "Consent", + "id": "Consent-RoDToFollow-Example", + "status": "proposed", + "scope": { + "coding": [ + { + "system": "http://terminology.hl7.org/CodeSystem/consentscope", + "code": "research", + "display": "Research" + } + ] + }, + "category": [ + { + "coding": [ + { + "system": "http://terminology.hl7.org/CodeSystem/consentcategorycodes", + "code": "research", + "display": "Research Information Access" + } + ] + } + ] + }, + "request": { + "method": "POST", + "url": "Consent" + } + } + ] +} \ No newline at end of file diff --git a/CapabilityStatement/CapabilityStatement-genomics-application.json b/CapabilityStatement/CapabilityStatement-genomics-application.json index 52987821..14217548 100644 --- a/CapabilityStatement/CapabilityStatement-genomics-application.json +++ b/CapabilityStatement/CapabilityStatement-genomics-application.json @@ -1,22 +1,22 @@ { - "resourceType": "CapabilityStatement", - "id": "CapabilityStatement-genomics-application", - "url": "https://fhir.nhs.uk/CapabilityStatement/CapabilityStatement-genomics-application", - "version": "0.1.0", - "name": "CapabilityStatementGenomicsApplication", - "status": "draft", - "date": "2023-02-27T00:00:00+00:00", - "publisher": "NHS England", - "description": "Sample server capability for the Genomic Medicine Service", - "kind": "instance", - "implementationGuide": [ - "https://simplifier.net/guide/fhir-genomics-implementation-guide", - "https://simplifier.net/guide/nhsdigital" - ], - "fhirVersion": "4.0.1", - "format": [ - "application/fhir+json" - ], + "resourceType": "CapabilityStatement", + "id": "CapabilityStatement-genomics-application", + "url": "https://fhir.nhs.uk/CapabilityStatement/CapabilityStatement-genomics-application", + "version": "0.1.0", + "name": "CapabilityStatementGenomicsApplication", + "status": "draft", + "date": "2023-02-27T00:00:00+00:00", + "publisher": "NHS England", + "description": "Sample server capability for the Genomic Medicine Service", + "kind": "instance", + "implementationGuide": [ + "https://simplifier.net/guide/fhir-genomics-implementation-guide", + "https://simplifier.net/guide/nhsdigital" + ], + "fhirVersion": "4.0.1", + "format": [ + "application/fhir+json" + ], "implementation": { "description": "Exemplar CapabilityStatement for the GMS central broker implementation" }, @@ -45,27 +45,27 @@ ] } ], - "rest": [ - { - "mode": "server", + "rest": [ + { + "mode": "server", "documentation": "RESTful endpoints supported by the Genomic Medicine Service", - "security": { - "service": [ - { - "coding": [ - { - "system": "http://terminology.hl7.org/CodeSystem/restful-security-service", - "code": "OAuth", - "display": "OAuth2 Token" - } - ] - } - ] - }, - "resource": [ - { - "type": "Bundle", - "profile": "https://fhir.hl7.org.uk/StructureDefinition/UKCore-Bundle", + "security": { + "service": [ + { + "coding": [ + { + "system": "http://terminology.hl7.org/CodeSystem/restful-security-service", + "code": "OAuth", + "display": "OAuth2 Token" + } + ] + } + ] + }, + "resource": [ + { + "type": "Bundle", + "profile": "https://fhir.hl7.org.uk/StructureDefinition/UKCore-Bundle", "documentation": "For posting transaction bundles to the server", "interaction": [ { @@ -76,10 +76,10 @@ "referencePolicy": [ "resolves" ] - }, + }, { - "type": "CodeSystem", - "profile": "http://hl7.org/fhir/StructureDefinition/CodeSystem", + "type": "CodeSystem", + "profile": "http://hl7.org/fhir/StructureDefinition/CodeSystem", "documentation": "For searching supported CodeSystems", "interaction": [ { @@ -119,10 +119,10 @@ "type": "string" } ] - }, + }, { - "type": "ConceptMap", - "profile": "http://hl7.org/fhir/StructureDefinition/ConceptMap", + "type": "ConceptMap", + "profile": "http://hl7.org/fhir/StructureDefinition/ConceptMap", "documentation": "For searching provided ConceptMaps", "interaction": [ { @@ -162,10 +162,10 @@ "type": "string" } ] - }, + }, { - "type": "HealthcareService", - "profile": "https://fhir.hl7.org.uk/StructureDefinition/UKCore-HealthcareService", + "type": "HealthcareService", + "profile": "https://fhir.hl7.org.uk/StructureDefinition/UKCore-HealthcareService", "documentation": "Endpoints for interacting with HealthcareService resources", "interaction": [ { @@ -237,10 +237,10 @@ "type": "token" } ] - }, + }, { - "type": "MessageDefinition", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-MessageDefinition-Genomics", + "type": "MessageDefinition", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-MessageDefinition-Genomics", "documentation": "For searching supported MessageDefinitions", "interaction": [ { @@ -272,10 +272,10 @@ "type": "string" } ] - }, + }, { - "type": "NamingSystem", - "profile": "http://hl7.org/fhir/StructureDefinition/NamingSystem", + "type": "NamingSystem", + "profile": "http://hl7.org/fhir/StructureDefinition/NamingSystem", "documentation": "For searching supported NamingSystems", "interaction": [ { @@ -299,14 +299,14 @@ "type": "string" } ] - }, + }, { - "type": "Parameters", - "profile": "http://hl7.org/fhir/StructureDefinition/Parameters" - }, + "type": "Parameters", + "profile": "http://hl7.org/fhir/StructureDefinition/Parameters" + }, { - "type": "StructureMap", - "profile": "http://hl7.org/fhir/StructureDefinition/StructureMap", + "type": "StructureMap", + "profile": "http://hl7.org/fhir/StructureDefinition/StructureMap", "documentation": "For searching provided StructureMaps", "interaction": [ { @@ -334,10 +334,10 @@ "type": "string" } ] - }, + }, { - "type": "ValueSet", - "profile": "http://hl7.org/fhir/StructureDefinition/ValueSet", + "type": "ValueSet", + "profile": "http://hl7.org/fhir/StructureDefinition/ValueSet", "documentation": "For searching supported CodeSystems", "interaction": [ { @@ -373,10 +373,10 @@ "type": "string" } ] - }, - { - "type": "MessageHeader", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-MessageHeader-Genomics", + }, + { + "type": "MessageHeader", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-MessageHeader-Genomics", "documentation": "Endpoints for interacting with MessageHeader resources", "interaction": [ { @@ -424,10 +424,10 @@ "type": "uri" } ] - }, - { - "type": "Subscription", - "profile": "http://hl7.org/fhir/StructureDefinition/Subscription", + }, + { + "type": "Subscription", + "profile": "http://hl7.org/fhir/StructureDefinition/Subscription", "documentation": "Endpoints for interacting with Subscription resources", "interaction": [ { @@ -480,10 +480,10 @@ "type": "uri" } ] - }, - { - "type": "CapabilityStatement", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-CapabilityStatement", + }, + { + "type": "CapabilityStatement", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-CapabilityStatement", "documentation": "For searching provided CapabilityStatements", "interaction": [ { @@ -523,10 +523,10 @@ "type": "string" } ] - }, - { - "type": "Task", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Task-Genomics", + }, + { + "type": "Task", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Task-Genomics", "documentation": "Endpoints for interacting with Task resources", "interaction": [ { @@ -610,10 +610,10 @@ "type": "token" } ] - }, - { - "type": "ServiceRequest", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-ServiceRequest-Genomics", + }, + { + "type": "ServiceRequest", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-ServiceRequest-Genomics", "documentation": "Endpoints for interacting with ServiceRequest resources", "interaction": [ { @@ -701,10 +701,10 @@ "type": "token" } ] - }, - { - "type": "PractitionerRole", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-PractitionerRole-Genomics", + }, + { + "type": "PractitionerRole", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-PractitionerRole-Genomics", "documentation": "Endpoints for interacting with PractitionerRole resources", "interaction": [ { @@ -764,10 +764,10 @@ "type": "token" } ] - }, - { - "type": "Practitioner", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Practitioner-Genomics", + }, + { + "type": "Practitioner", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Practitioner-Genomics", "documentation": "Endpoints for interacting with Practitioner resources", "interaction": [ { @@ -811,10 +811,10 @@ "type": "token" } ] - }, - { - "type": "Organization", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Organization-Genomics", + }, + { + "type": "Organization", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Organization-Genomics", "documentation": "Endpoints for interacting with PractitionerRole resources", "interaction": [ { @@ -874,10 +874,10 @@ "type": "token" } ] - }, - { - "type": "DiagnosticReport", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-DiagnosticReport-Genomics", + }, + { + "type": "DiagnosticReport", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-DiagnosticReport-Genomics", "documentation": "Endpoints for interacting with DiagnosticReport resources", "interaction": [ { @@ -965,10 +965,10 @@ "type": "token" } ] - }, - { - "type": "FamilyMemberHistory", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-FamilyMemberHistory-Genomics", + }, + { + "type": "FamilyMemberHistory", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-FamilyMemberHistory-Genomics", "documentation": "Endpoints for interacting with FamilyMemberHistory resources", "interaction": [ { @@ -1032,10 +1032,10 @@ "type": "token" } ] - }, - { - "type": "Observation", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Observation-Genomics", + }, + { + "type": "Observation", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Observation-Genomics", "documentation": "Endpoints for interacting with Observation resources", "interaction": [ { @@ -1123,10 +1123,10 @@ "type": "token" } ] - }, - { - "type": "Patient", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Patient-Genomics", + }, + { + "type": "Patient", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Patient-Genomics", "documentation": "Endpoints for interacting with Patient resources", "interaction": [ { @@ -1202,10 +1202,10 @@ "type": "token" } ] - }, - { - "type": "Consent", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Consent-Genomics", + }, + { + "type": "Consent", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Consent-Genomics", "documentation": "Endpoints for interacting with Consent resources", "interaction": [ { @@ -1273,10 +1273,10 @@ "type": "date" } ] - }, - { - "type": "Condition", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Condition-Genomics", + }, + { + "type": "Condition", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Condition-Genomics", "documentation": "Endpoints for interacting with Condition resources", "interaction": [ { @@ -1356,14 +1356,14 @@ "type": "token" } ] - }, - { - "type": "ResearchSubject", - "profile": "http://hl7.org/fhir/StructureDefinition/ResearchSubject" - }, - { - "type": "RelatedPerson", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-RelatedPerson-Genomics", + }, + { + "type": "ResearchSubject", + "profile": "http://hl7.org/fhir/StructureDefinition/ResearchSubject" + }, + { + "type": "RelatedPerson", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-RelatedPerson-Genomics", "documentation": "Endpoints for interacting with RelatedPerson resources", "interaction": [ { @@ -1407,10 +1407,10 @@ "type": "token" } ] - }, - { - "type": "Specimen", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Specimen-Genomics", + }, + { + "type": "Specimen", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Specimen-Genomics", "documentation": "Endpoints for interacting with Specimen resources", "interaction": [ { @@ -1486,10 +1486,10 @@ "type": "token" } ] - }, - { - "type": "Questionnaire", - "profile": "https://fhir.hl7.org.uk/StructureDefinition/UKCore-Questionnaire", + }, + { + "type": "Questionnaire", + "profile": "https://fhir.hl7.org.uk/StructureDefinition/UKCore-Questionnaire", "documentation": "For searching supported Questionnaires", "interaction": [ { @@ -1533,10 +1533,10 @@ "type": "token" } ] - }, - { - "type": "QuestionnaireResponse", - "profile": "https://fhir.hl7.org.uk/StructureDefinition/UKCore-QuestionnaireResponse", + }, + { + "type": "QuestionnaireResponse", + "profile": "https://fhir.hl7.org.uk/StructureDefinition/UKCore-QuestionnaireResponse", "documentation": "Endpoints for interacting with QuestionnaireResponse resources", "interaction": [ { @@ -1600,14 +1600,14 @@ "type": "token" } ] - }, - { - "type": "OperationDefinition", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-OperationDefinition" - }, - { - "type": "OperationOutcome", - "profile": "https://fhir.hl7.org.uk/StructureDefinition/UKCore-OperationOutcome", + }, + { + "type": "OperationDefinition", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-OperationDefinition" + }, + { + "type": "OperationOutcome", + "profile": "https://fhir.hl7.org.uk/StructureDefinition/UKCore-OperationOutcome", "documentation": "For searching historical OperationOutcomes", "interaction": [ { @@ -1617,10 +1617,10 @@ "code": "search-type" } ] - }, - { - "type": "BodyStructure", - "profile": "http://hl7.org/fhir/StructureDefinition/BodyStructure", + }, + { + "type": "BodyStructure", + "profile": "http://hl7.org/fhir/StructureDefinition/BodyStructure", "documentation": "Endpoints for interacting with BodyStructure resources", "interaction": [ { @@ -1672,10 +1672,10 @@ "type": "reference" } ] - }, + }, { - "type": "Provenance", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Specimen-Genomics", + "type": "Provenance", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Specimen-Genomics", "documentation": "For searching stored Provenance resources", "interaction": [ { @@ -1703,8 +1703,8 @@ "type": "date" } ] - } - ] - } - ] + } + ] + } + ] } \ No newline at end of file diff --git a/CapabilityStatement/CapabilityStatement-genomics-requirements.json b/CapabilityStatement/CapabilityStatement-genomics-requirements.json index 155b04a9..611232d2 100644 --- a/CapabilityStatement/CapabilityStatement-genomics-requirements.json +++ b/CapabilityStatement/CapabilityStatement-genomics-requirements.json @@ -1,165 +1,165 @@ { - "resourceType": "CapabilityStatement", - "id": "genomics-requirements", - "url": "https://fhir.nhs.uk/CapabilityStatement/genomics-requirements", - "version": "0.1.0", - "name": "GenomicsRequirements", - "status": "draft", - "date": "2022-11-25T00:00:00+00:00", - "publisher": "digital.nhs.uk", - "description": "Conformance requirements for NHS Digital Genomics Implementation Guide", - "kind": "requirements", - "fhirVersion": "4.0.1", - "format": [ - "application/fhir+json", - "application/fhir+xml" - ], - "rest": [ - { - "mode": "server", - "security": { - "service": [ - { - "coding": [ - { - "system": "http://terminology.hl7.org/CodeSystem/restful-security-service", - "code": "OAuth", - "display": "OAuth2 Token" - } - ] - } - ] - }, - "resource": [ - { - "type": "Bundle", - "profile": "https://fhir.hl7.org.uk/StructureDefinition/UKCore-Bundle" - }, - { - "type": "CodeSystem", - "profile": "http://hl7.org/fhir/StructureDefinition/CodeSystem" - }, - { - "type": "ConceptMap", - "profile": "http://hl7.org/fhir/StructureDefinition/ConceptMap" - }, - { - "type": "HealthcareService", - "profile": "https://fhir.hl7.org.uk/StructureDefinition/UKCore-HealthcareService" - }, - { - "type": "MessageDefinition", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-MessageDefinition-Genomics" - }, - { - "type": "NamingSystem", - "profile": "http://hl7.org/fhir/StructureDefinition/NamingSystem" - }, - { - "type": "Parameters", - "profile": "http://hl7.org/fhir/StructureDefinition/Parameters" - }, - { - "type": "StructureMap", - "profile": "http://hl7.org/fhir/StructureDefinition/StructureMap" - }, - { - "type": "ValueSet", - "profile": "http://hl7.org/fhir/StructureDefinition/ValueSet" - }, - { - "type": "MessageHeader", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-MessageHeader-Genomics" - }, - { - "type": "Subscription", - "profile": "http://hl7.org/fhir/StructureDefinition/Subscription" - }, - { - "type": "CapabilityStatement", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-CapabilityStatement" - }, - { - "type": "Task", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Task-Genomics" - }, - { - "type": "ServiceRequest", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-ServiceRequest-Genomics" - }, - { - "type": "PractitionerRole", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-PractitionerRole-Genomics" - }, - { - "type": "Practitioner", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Practitioner-Genomics" - }, - { - "type": "Organization", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Organization-Genomics" - }, - { - "type": "DiagnosticReport", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-DiagnosticReport-Genomics" - }, - { - "type": "FamilyMemberHistory", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-FamilyMemberHistory-Genomics" - }, - { - "type": "Observation", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Observation-Genomics" - }, - { - "type": "Patient", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Patient-Genomics" - }, - { - "type": "Consent", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Consent-Genomics" - }, - { - "type": "Condition", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Condition-Genomics" - }, - { - "type": "ResearchSubject", - "profile": "http://hl7.org/fhir/StructureDefinition/ResearchSubject" - }, - { - "type": "RelatedPerson", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-RelatedPerson-Genomics" - }, - { - "type": "Specimen", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Specimen-Genomics" - }, - { - "type": "Questionnaire", - "profile": "https://fhir.hl7.org.uk/StructureDefinition/UKCore-Questionnaire" - }, - { - "type": "QuestionnaireResponse", - "profile": "https://fhir.hl7.org.uk/StructureDefinition/UKCore-QuestionnaireResponse" - }, - { - "type": "OperationDefinition", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-OperationDefinition" - }, - { - "type": "OperationOutcome", - "profile": "https://fhir.hl7.org.uk/StructureDefinition/UKCore-OperationOutcome" - }, - { - "type": "BodyStructure", - "profile": "http://hl7.org/fhir/StructureDefinition/BodyStructure" - }, - { - "type": "Provenance", - "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Provenance-Genomics" - } - ] - } - ] + "resourceType": "CapabilityStatement", + "id": "genomics-requirements", + "url": "https://fhir.nhs.uk/CapabilityStatement/genomics-requirements", + "version": "0.1.0", + "name": "GenomicsRequirements", + "status": "draft", + "date": "2022-11-25T00:00:00+00:00", + "publisher": "digital.nhs.uk", + "description": "Conformance requirements for NHS Digital Genomics Implementation Guide", + "kind": "requirements", + "fhirVersion": "4.0.1", + "format": [ + "application/fhir+json", + "application/fhir+xml" + ], + "rest": [ + { + "mode": "server", + "security": { + "service": [ + { + "coding": [ + { + "system": "http://terminology.hl7.org/CodeSystem/restful-security-service", + "code": "OAuth", + "display": "OAuth2 Token" + } + ] + } + ] + }, + "resource": [ + { + "type": "Bundle", + "profile": "https://fhir.hl7.org.uk/StructureDefinition/UKCore-Bundle" + }, + { + "type": "CodeSystem", + "profile": "http://hl7.org/fhir/StructureDefinition/CodeSystem" + }, + { + "type": "ConceptMap", + "profile": "http://hl7.org/fhir/StructureDefinition/ConceptMap" + }, + { + "type": "HealthcareService", + "profile": "https://fhir.hl7.org.uk/StructureDefinition/UKCore-HealthcareService" + }, + { + "type": "MessageDefinition", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-MessageDefinition-Genomics" + }, + { + "type": "NamingSystem", + "profile": "http://hl7.org/fhir/StructureDefinition/NamingSystem" + }, + { + "type": "Parameters", + "profile": "http://hl7.org/fhir/StructureDefinition/Parameters" + }, + { + "type": "StructureMap", + "profile": "http://hl7.org/fhir/StructureDefinition/StructureMap" + }, + { + "type": "ValueSet", + "profile": "http://hl7.org/fhir/StructureDefinition/ValueSet" + }, + { + "type": "MessageHeader", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-MessageHeader-Genomics" + }, + { + "type": "Subscription", + "profile": "http://hl7.org/fhir/StructureDefinition/Subscription" + }, + { + "type": "CapabilityStatement", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-CapabilityStatement" + }, + { + "type": "Task", + "profile": "https://fhir.hl7.org.uk/StructureDefinition/UKCore-Task" + }, + { + "type": "ServiceRequest", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-ServiceRequest-Genomics" + }, + { + "type": "PractitionerRole", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-PractitionerRole-Genomics" + }, + { + "type": "Practitioner", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Practitioner-Genomics" + }, + { + "type": "Organization", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Organization-Genomics" + }, + { + "type": "DiagnosticReport", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-DiagnosticReport-Genomics" + }, + { + "type": "FamilyMemberHistory", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-FamilyMemberHistory-Genomics" + }, + { + "type": "Observation", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Observation-Genomics" + }, + { + "type": "Patient", + "profile": "https://fhir.hl7.org.uk/StructureDefinition/UKCore-Patient" + }, + { + "type": "Consent", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Consent-Genomics" + }, + { + "type": "Condition", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Condition-Genomics" + }, + { + "type": "ResearchSubject", + "profile": "http://hl7.org/fhir/StructureDefinition/ResearchSubject" + }, + { + "type": "RelatedPerson", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-RelatedPerson-Genomics" + }, + { + "type": "Specimen", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Specimen-Genomics" + }, + { + "type": "Questionnaire", + "profile": "https://fhir.hl7.org.uk/StructureDefinition/UKCore-Questionnaire" + }, + { + "type": "QuestionnaireResponse", + "profile": "https://fhir.hl7.org.uk/StructureDefinition/UKCore-QuestionnaireResponse" + }, + { + "type": "OperationDefinition", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-OperationDefinition" + }, + { + "type": "OperationOutcome", + "profile": "https://fhir.hl7.org.uk/StructureDefinition/UKCore-OperationOutcome" + }, + { + "type": "BodyStructure", + "profile": "http://hl7.org/fhir/StructureDefinition/BodyStructure" + }, + { + "type": "Provenance", + "profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Provenance-Genomics" + } + ] + } + ] } \ No newline at end of file diff --git a/Patient/Patient-LindsaySorrellPDS-Example.json b/Patient/Patient-LindsaySorrellPDS-Example.json new file mode 100644 index 00000000..542d9c21 --- /dev/null +++ b/Patient/Patient-LindsaySorrellPDS-Example.json @@ -0,0 +1,28 @@ +{ + "resourceType": "Patient", + "id": "Patient-LindsaySorrellPDS-Example", + "identifier": [ + { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307946" + } + ], + "name": [ + { + "given": [ + "Lindsay" + ], + "family": "Sorrell" + } + ], + "gender": "male", + "birthDate": "2011-04-12", + "address": [ + { + "line": [ + "31 THE AVENUE", + "BERWICK COURT" + ] + } + ] +} \ No newline at end of file diff --git a/Patient/Patient-MeirLiebermanPDS-Example.json b/Patient/Patient-MeirLiebermanPDS-Example.json new file mode 100644 index 00000000..bd814a84 --- /dev/null +++ b/Patient/Patient-MeirLiebermanPDS-Example.json @@ -0,0 +1,29 @@ +{ + "resourceType": "Patient", + "id": "Patient-MeirLiebermanPDS-Example", + "identifier": [ + { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307873" + } + ], + "name": [ + { + "given": [ + "Meir" + ], + "family": "Lieberman" + } + ], + "gender": "male", + "birthDate": "2005-12-19", + "address": [ + { + "line": [ + "1 Spinney Close", + "Worcester Park" + ], + "city": "Surrey" + } + ] +} \ No newline at end of file diff --git a/ServiceRequest/ServiceRequest-SavedTestOrder-Example.json b/ServiceRequest/ServiceRequest-SavedTestOrder-Example.json new file mode 100644 index 00000000..b8afe8b4 --- /dev/null +++ b/ServiceRequest/ServiceRequest-SavedTestOrder-Example.json @@ -0,0 +1,106 @@ +{ + "resourceType": "ServiceRequest", + "id": "ServiceRequest-SavedTestOrder-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" + } + ] + } + } + ], + "identifier": [ + { + "system": "https://fhir.nhs.uk/Id/GMSOrder", + "value": "ROA43728" + } + ], + "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": "routine", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", + "code": "R67.2", + "display": "Monogenic hearing loss" + } + ] + }, + "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", + "identifier": { + "system": "https://fhir.nhs.uk/Id/sds-user-id", + "value": "9999999999" + } + }, + "reasonCode": [ + { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "103693007", + "display": "Diagnostic procedure" + } + ] + } + ], + "reasonReference": [ + { + "reference": "Condition/Condition-DiseaseStatus-Example" + } + ], + "supportingInfo": [ + { + "reference": "Observation/Observation-GenomicEthnicity-Example" + }, + { + "reference": "Observation/Observation-NoPregnancy-Example" + }, + { + "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" + }, + { + "reference": "Procedure/Procedure-NoTransplant-Example" + }, + { + "reference": "Procedure/Procedure-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" + } + ] +} \ No newline at end of file diff --git a/ServiceRequest/ServiceRequest-SavedTestOrderUpdated-Example.json b/ServiceRequest/ServiceRequest-SavedTestOrderUpdated-Example.json new file mode 100644 index 00000000..1db43d50 --- /dev/null +++ b/ServiceRequest/ServiceRequest-SavedTestOrderUpdated-Example.json @@ -0,0 +1,106 @@ +{ + "resourceType": "ServiceRequest", + "id": "ServiceRequest-SavedTestOrderUpdated-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" + } + ] + } + } + ], + "identifier": [ + { + "system": "https://fhir.nhs.uk/Id/GMSOrder", + "value": "ROA43728" + } + ], + "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": "routine", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", + "code": "R67.1", + "display": "Monogenic hearing loss" + } + ] + }, + "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", + "identifier": { + "system": "https://fhir.nhs.uk/Id/sds-user-id", + "value": "9999999999" + } + }, + "reasonCode": [ + { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "103693007", + "display": "Diagnostic procedure" + } + ] + } + ], + "reasonReference": [ + { + "reference": "Condition/Condition-DiseaseStatus-Example" + } + ], + "supportingInfo": [ + { + "reference": "Observation/Observation-GenomicEthnicity-Example" + }, + { + "reference": "Condition/Condition-DiseaseStatus-Example" + }, + { + "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" + }, + { + "reference": "Procedure/Procedure-NoTransplant-Example" + }, + { + "reference": "Procedure/Procedure-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" + } + ] +} \ No newline at end of file diff --git a/ServiceRequest/ServiceRequest-SavedTestOrderWGS-Example.json b/ServiceRequest/ServiceRequest-SavedTestOrderWGS-Example.json new file mode 100644 index 00000000..cfa326e2 --- /dev/null +++ b/ServiceRequest/ServiceRequest-SavedTestOrderWGS-Example.json @@ -0,0 +1,121 @@ +{ + "resourceType": "ServiceRequest", + "id": "ServiceRequest-SavedTestOrderWGS-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" + } + ] + } + } + ], + "identifier": [ + { + "system": "https://fhir.nhs.uk/Id/GMSOrder", + "value": "RAS61763" + } + ], + "status": "active", + "intent": "order", + "category": [ + { + "coding": [ + { + "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", + "code": "rare-disease-wgs", + "display": "Rare Disease - WGS" + } + ] + } + ], + "priority": "routine", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", + "code": "R193.4", + "display": "Cystic renal disease" + } + ] + }, + "subject": { + "reference": "Patient/Patient-LindsaySorrell-Example" + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307946" + } + }, + "authoredOn": "2023-08-08", + "requester": { + "reference": "PractitionerRole/PractitionerRole-HazelSmithRenal-Example" + "identifier": { + "system": "https://fhir.nhs.uk/Id/sds-user-id", + "value": "9999999998" + } + }, + "reasonCode": [ + { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "103693007", + "display": "Diagnostic procedure" + } + ] + } + ], + "reasonReference": [ + { + "reference": "Condition/Condition-DiseaseStatus-Example" + } + ], + "supportingInfo": [ + { + "reference": "Observation/Observation-GenomicEthnicity-Example" + }, + { + "reference": "Observation/Observation-NoPregnancy-Example" + }, + { + "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" + }, + { + "reference": "Procedure/Procedure-NoBoneMarrowTransplant-Example" + }, + { + "reference": "Procedure/Procedure-NoTransfusion-Example" + }, + { + "reference": "Observation/Observation-MultipleRenalCysts-Example" + }, + { + "reference": "Observation/Observation-Nephronophthisis-Example" + }, + { + "reference": "Observation/Observation-HepaticCysts-Example" + }, + { + "reference": "Observation/Observation-EnlargedKidney-Example" + }, + { + "reference": "Observation/Observation-RenalInsufficiency-Example" + }, + { + "reference": "Consent/Consent-RoDToFollow-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 diagnoses with ADPKD (example)" + } + ] +} \ No newline at end of file diff --git a/Task/Task-NonWGSRareDiseaseTestOrder-Example.json b/Task/Task-NonWGSRareDiseaseTestOrder-Example.json new file mode 100644 index 00000000..550355db --- /dev/null +++ b/Task/Task-NonWGSRareDiseaseTestOrder-Example.json @@ -0,0 +1,34 @@ +{ + "resourceType": "Task", + "id": "Task-NonWGSRareDiseaseTestOrder-Example", + "status": "requested", + "intent": "order", + "priority": "routine", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/task-code-genomics", + "code": "SamplePrep", + "display": "Sample Prep" + } + ] + }, + "focus": { + "reference": "ServiceRequest/ServiceRequest-SavedTestOrder-Example" + }, + "for": { + "reference": "Patient/Patient-MeirLieberman-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307873" + } + }, + "authoredOn": "2022-08-05", + "requester": { + "reference": "PractitionerRole/PractitionerRole-GeneSmithENT-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/sds-user-id", + "value": "9999999999" + } + } +} diff --git a/Task/Task-NonWGSRareDiseaseTestOrderAccepted-Example.json b/Task/Task-NonWGSRareDiseaseTestOrderAccepted-Example.json new file mode 100644 index 00000000..6aa2740a --- /dev/null +++ b/Task/Task-NonWGSRareDiseaseTestOrderAccepted-Example.json @@ -0,0 +1,56 @@ +{ + "resourceType": "Task", + "id": "Task-NonWGSRareDiseaseTestOrderAccepted-Example", + "status": "accepted", + "businessStatus": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/business-status-genomics", + "code": "AwaitingSpecimen", + "display": "Awaiting Specimen" + } + ] + }, + "intent": "order", + "priority": "routine", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/task-code-genomics", + "code": "SamplePrep", + "display": "Sample Prep" + } + ] + }, + "focus": { + "reference": "ServiceRequest/ServiceRequest-SavedTestOrder-Example" + }, + "for": { + "reference": "Patient/Patient-MeirLieberman-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307873" + } + }, + "authoredOn": "2022-08-05", + "requester": { + "reference": "PractitionerRole/PractitionerRole-GeneSmithENT-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/sds-user-id", + "value": "9999999999" + } + }, + "owner": { + "reference": "Organization/Organization-AddenbrookeLab-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/ods-organization-code", + "value": "69010" + }, + "display": "Pathology Lab - ADDENBROOKE'S HOSPITAL LABORATORY" + }, + "note": [ + { + "text": "Optional Free Text field to record any additional details" + } + ] +} diff --git a/Task/Task-NonWGSRareDiseaseTestOrderHold-Example.json b/Task/Task-NonWGSRareDiseaseTestOrderHold-Example.json new file mode 100644 index 00000000..b51042fb --- /dev/null +++ b/Task/Task-NonWGSRareDiseaseTestOrderHold-Example.json @@ -0,0 +1,65 @@ +{ + "resourceType": "Task", + "id": "Task-NonWGSRareDiseaseTestOrderHold-Example", + "status": "on-hold", + "statusReason": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/task-status-reason-genomics", + "code": "InsufficientSample", + "display": "Insufficient Sample" + } + ] + } + "businessStatus": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/business-status-genomics", + "code": "AwaitingSpecimen", + "display": "Awaiting Specimen" + } + ] + }, + "intent": "order", + "priority": "routine", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/task-code-genomics", + "code": "SamplePrep", + "display": "Sample Prep" + } + ] + }, + "focus": { + "reference": "ServiceRequest/ServiceRequest-SavedTestOrder-Example" + }, + "for": { + "reference": "Patient/Patient-MeirLieberman-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307873" + } + }, + "authoredOn": "2022-08-05", + "requester": { + "reference": "PractitionerRole/PractitionerRole-GeneSmithENT-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/sds-user-id", + "value": "9999999999" + } + }, + "owner": { + "reference": "Organization/Organization-AddenbrookeLab-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/ods-organization-code", + "value": "69010" + }, + "display": "Pathology Lab - ADDENBROOKE'S HOSPITAL LABORATORY" + }, + "note": [ + { + "text": "Please provide additional sample of X" + } + ] +} diff --git a/Task/Task-NonWGSRareDiseaseTestOrderRejected-Example.json b/Task/Task-NonWGSRareDiseaseTestOrderRejected-Example.json new file mode 100644 index 00000000..f1f75df4 --- /dev/null +++ b/Task/Task-NonWGSRareDiseaseTestOrderRejected-Example.json @@ -0,0 +1,65 @@ +{ + "resourceType": "Task", + "id": "Task-NonWGSRareDiseaseTestOrderRejected-Example", + "status": "rejected", + "statusReason": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/task-status-reason-genomics", + "code": "Inappropriate", + "display": "Inappropriate for patient" + } + ] + } + "businessStatus": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/business-status-genomics", + "code": "InvalidRequest", + "display": "Invalid Request" + } + ] + }, + "intent": "order", + "priority": "routine", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/task-code-genomics", + "code": "SamplePrep", + "display": "Sample Prep" + } + ] + }, + "focus": { + "reference": "ServiceRequest/ServiceRequest-SavedTestOrder-Example" + }, + "for": { + "reference": "Patient/Patient-MeirLieberman-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307873" + } + }, + "authoredOn": "2022-08-05", + "requester": { + "reference": "PractitionerRole/PractitionerRole-GeneSmithENT-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/sds-user-id", + "value": "9999999999" + } + }, + "owner": { + "reference": "Organization/Organization-AddenbrookeLab-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/ods-organization-code", + "value": "69010" + }, + "display": "Pathology Lab - ADDENBROOKE'S HOSPITAL LABORATORY" + }, + "note": [ + { + "text": "Optional Free Text field to record any additional details" + } + ] +} diff --git a/Task/Task-WGSRareDiseaseTestOrder-Example.json b/Task/Task-WGSRareDiseaseTestOrder-Example.json new file mode 100644 index 00000000..4cf5ec53 --- /dev/null +++ b/Task/Task-WGSRareDiseaseTestOrder-Example.json @@ -0,0 +1,34 @@ +{ + "resourceType": "Task", + "id": "Task-WGSRareDiseaseTestOrder-Example", + "status": "requested", + "intent": "order", + "priority": "routine", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/task-code-genomics", + "code": "SamplePrep", + "display": "Sample Prep" + } + ] + }, + "focus": { + "reference": "ServiceRequest/ServiceRequest-SavedTestOrder-Example" + }, + "for": { + "reference": "Patient/Patient-LindsaySorrell-Example" + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307946" + } + }, + "authoredOn": "2022-08-08", + "requester": { + "reference": "PractitionerRole/PractitionerRole-HazelSmithRenal-Example" + "identifier": { + "system": "https://fhir.nhs.uk/Id/sds-user-id", + "value": "9999999998" + } + } +} diff --git a/Task/Task-WGSRareDiseaseTestOrderAccepted-Example.json b/Task/Task-WGSRareDiseaseTestOrderAccepted-Example.json new file mode 100644 index 00000000..6e6cd466 --- /dev/null +++ b/Task/Task-WGSRareDiseaseTestOrderAccepted-Example.json @@ -0,0 +1,51 @@ +{ + "resourceType": "Task", + "id": "Task-WGSRareDiseaseTestOrder-Example", + "status": "on-hold", + "businessStatus": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/business-status-genomics", + "code": "AwaitingRoDAndSpecimen", + "display": "Awaiting Record of Discussion and Specimen" + } + ] + }, + "intent": "order", + "priority": "routine", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/task-code-genomics", + "code": "SamplePrep", + "display": "Sample Prep" + } + ] + }, + "focus": { + "reference": "ServiceRequest/ServiceRequest-SavedTestOrder-Example" + }, + "for": { + "reference": "Patient/Patient-LindsaySorrell-Example" + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307946" + } + }, + "authoredOn": "2022-08-08", + "requester": { + "reference": "PractitionerRole/PractitionerRole-HazelSmithRenal-Example" + "identifier": { + "system": "https://fhir.nhs.uk/Id/sds-user-id", + "value": "9999999998" + } + }, + "owner": { + "reference": "Organization/Organization-GSTT-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/ods-organization-code", + "value": "RJ1" + }, + "display": "GUY'S AND ST THOMAS' NHS FOUNDATION TRUST" + } +} diff --git a/Task/Task-WGSRareDiseaseTestOrderForwarded-Example.json b/Task/Task-WGSRareDiseaseTestOrderForwarded-Example.json new file mode 100644 index 00000000..c43411ca --- /dev/null +++ b/Task/Task-WGSRareDiseaseTestOrderForwarded-Example.json @@ -0,0 +1,51 @@ +{ + "resourceType": "Task", + "id": "Task-WGSRareDiseaseTestOrder-Example", + "status": "ready", + "businessStatus": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/business-status-genomics", + "code": "SpecimenReceived", + "display": "Specimen Received" + } + ] + }, + "intent": "order", + "priority": "routine", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/task-code-genomics", + "code": "SamplePrep", + "display": "Sample Prep" + } + ] + }, + "focus": { + "reference": "ServiceRequest/ServiceRequest-SavedTestOrder-Example" + }, + "for": { + "reference": "Patient/Patient-LindsaySorrell-Example" + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449307946" + } + }, + "authoredOn": "2022-08-08", + "requester": { + "reference": "PractitionerRole/PractitionerRole-HazelSmithRenal-Example" + "identifier": { + "system": "https://fhir.nhs.uk/Id/sds-user-id", + "value": "9999999998" + } + }, + "owner": { + "reference": "Organization/Organization-GEL-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/ods-organization-code", + "value": "8J834" + }, + "display": "GENOMICS ENGLAND" + } +}