From 8c854cd970d5d33a673fe81e6d903194c46d30b2 Mon Sep 17 00:00:00 2001 From: KazeemHamzat Date: Tue, 27 Jan 2026 20:58:53 +0000 Subject: [PATCH 1/5] Update Bundle-NonWGSScenario4-ProbandWithMultipleFetus-Example Update Foetus mode for double duo --- ...rio4-ProbandWithMultipleFetus-Example.json | 672 +++--------------- 1 file changed, 98 insertions(+), 574 deletions(-) diff --git a/Bundle/Bundle-NonWGSScenario4-ProbandWithMultipleFetus-Example.json b/Bundle/Bundle-NonWGSScenario4-ProbandWithMultipleFetus-Example.json index 3187458..7456226 100644 --- a/Bundle/Bundle-NonWGSScenario4-ProbandWithMultipleFetus-Example.json +++ b/Bundle/Bundle-NonWGSScenario4-ProbandWithMultipleFetus-Example.json @@ -79,409 +79,6 @@ "url": "PractitionerRole" } }, - { - "fullUrl": "urn:uuid:51008c44-551e-4272-a2a8-36f7d5363c9c", - "resource": { - "resourceType": "Patient", - "id": "51008c44-551e-4272-a2a8-36f7d5363c9c", - "extension": [ - { - "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex", - "valueCodeableConcept": { - "coding": [ - { - "system": "http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender", - "code": "F", - "display": "Female" - } - ] - } - }, - { - "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-EthnicCategory", - "valueCodeableConcept": { - "coding": [ - { - "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-EthnicCategoryEngland", - "code": "A", - "display": "White - British" - } - ] - } - } - ], - "identifier": [ - { - "system": "https://fhir.nhs.uk/Id/nhs-number", - "value": "9449308322", - "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": "02848675", - "assigner": { - "identifier": { - "system": "https://fhir.nhs.uk/Id/ods-organization-code", - "value": "RAX01" - } - } - } - ], - "name": [ - { - "given": [ - "Ryanne" - ], - "family": "Boulder" - } - ], - "birthDate": "1980-09-02", - "deceasedBoolean": false, - "address": [ - { - "line": [ - "32 THE AVENUE", - "BERWICK COURT" - ], - "postalCode": "KT4 8HE" - } - ], - "generalPractitioner": [ - { - "identifier": { - "system": "https://fhir.hl7.org.uk/Id/gmp-number", - "value": "G9999999" - }, - "display": "Dr. Aero Smith" - }, - { - "identifier": { - "system": "https://fhir.hl7.org.uk/Id/ODS-code", - "value": "AP123" - }, - "display": "anywhere place" - } - ], - "link": [ - { - "other": { - "reference": "RelatedPerson/6473db02-3c45-42f0-9b8c-9d063753f86b" - }, - "type": "seealso" - } - ] - }, - "request": { - "method": "POST", - "url": "Patient", - "ifNoneExist": "Patient?identifier=https://fhir.nhs.uk/Id/nhs-number|9449308322" - } - }, - { - "fullUrl": "urn:uuid:2f4ef82c-3125-4ebf-8d5e-e19b86ea47c6", - "resource": { - "resourceType": "Observation", - "id": "2f4ef82c-3125-4ebf-8d5e-e19b86ea47c6", - "status": "final", - "code": { - "coding": [ - { - "system": "http://snomed.info/sct", - "code": "161743003", - "display": "Past pregnancy history of stillbirth" - } - ], - "text": "Is the testing for a fetal loss from 24+0 or more weeks of gestation?" - }, - "subject": { - "reference": "Patient/51008c44-551e-4272-a2a8-36f7d5363c9c", - "identifier": { - "system": "https://fhir.nhs.uk/Id/nhs-number", - "value": "9449308322" - } - }, - "effectiveDateTime": "2023-09-25", - "valueBoolean": false - }, - "request": { - "method": "POST", - "url": "Observation" - } - }, - { - "fullUrl": "urn:uuid:9080a716-c023-46c1-b479-b669074f4b3e", - "resource": { - "resourceType": "Observation", - "id": "9080a716-c023-46c1-b479-b669074f4b3e", - "status": "final", - "code": { - "coding": [ - { - "system": "http://snomed.info/sct", - "code": "77386006", - "display": "Pregnancy" - } - ] - }, - "subject": { - "reference": "Patient/51008c44-551e-4272-a2a8-36f7d5363c9c", - "identifier": { - "system": "https://fhir.nhs.uk/Id/nhs-number", - "value": "9449308322" - } - }, - "component": [ - { - "code": { - "coding": [ - { - "system": "http://snomed.info/sct", - "code": "720451000000102", - "display": "Assisted conception" - } - ] - } - }, - { - "code": { - "coding": [ - { - "system": "http://snomed.info/sct", - "code": "226081000000107", - "display": "Gestational age" - } - ] - }, - "valueQuantity": { - "value": 87, - "unit": "day", - "system": "http://unitsofmeasure.org", - "code": "d" - } - }, - { - "code": { - "coding": [ - { - "system": "http://snomed.info/sct", - "code": "161714006", - "display": "Estimated date of delivery" - } - ] - }, - "valueDateTime": "2024-05-01" - } - ], - "effectiveDateTime": "2023-09-25" - }, - "request": { - "method": "POST", - "url": "Observation" - } - }, - { - "fullUrl": "urn:uuid:b32f8456-be57-4f67-ade3-97a3a6cbda0a", - "resource": { - "resourceType": "Observation", - "id": "b32f8456-be57-4f67-ade3-97a3a6cbda0a", - "status": "preliminary", - "code": { - "coding": [ - { - "system": "http://snomed.info/sct", - "code": "723621000000103", - "display": "Ethnicity" - } - ] - }, - "subject": { - "reference": "Patient/51008c44-551e-4272-a2a8-36f7d5363c9c", - "identifier": { - "system": "https://fhir.nhs.uk/Id/nhs-number", - "value": "9449308322" - } - }, - "valueString": "unknown" - }, - "request": { - "method": "POST", - "url": "Observation" - } - }, - { - "fullUrl": "urn:uuid:7c3a876d-3e62-42e1-8fcf-2c233eba8289", - "resource": { - "resourceType": "Observation", - "id": "7c3a876d-3e62-42e1-8fcf-2c233eba8289", - "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/51008c44-551e-4272-a2a8-36f7d5363c9c", - "identifier": { - "system": "https://fhir.nhs.uk/Id/nhs-number", - "value": "9449308322" - } - }, - "effectiveDateTime": "2023-09-25" - }, - "request": { - "method": "POST", - "url": "Observation" - } - }, - { - "fullUrl": "urn:uuid:41654044-afd4-4b5d-add5-16afc73f97a5", - "resource": { - "resourceType": "Observation", - "id": "41654044-afd4-4b5d-add5-16afc73f97a5", - "status": "final", - "code": { - "coding": [ - { - "system": "http://snomed.info/sct", - "code": "609520005", - "display": "Disorder of fetal structure" - } - ], - "text": "First Trimester Anomalies?" - }, - "subject": { - "reference": "Patient/51008c44-551e-4272-a2a8-36f7d5363c9c", - "identifier": { - "system": "https://fhir.nhs.uk/Id/nhs-number", - "value": "9449308322" - } - }, - "component": [ - { - "code": { - "coding": [ - { - "system": "http://snomed.info/sct", - "code": "255246003", - "display": "First trimester" - } - ] - } - } - ], - "effectiveDateTime": "2023-09-25", - "valueBoolean": false - }, - "request": { - "method": "POST", - "url": "Observation" - } - }, - { - "fullUrl": "urn:uuid:4512e4e9-9b42-4464-b52f-81e5f7e380b0", - "resource": { - "resourceType": "Observation", - "id": "4512e4e9-9b42-4464-b52f-81e5f7e380b0", - "status": "final", - "code": { - "coding": [ - { - "system": "http://snomed.info/sct", - "code": "609520005", - "display": "Disorder of fetal structure" - } - ], - "text": "Second Trimester Anomalies?" - }, - "subject": { - "reference": "Patient/51008c44-551e-4272-a2a8-36f7d5363c9c", - "identifier": { - "system": "https://fhir.nhs.uk/Id/nhs-number", - "value": "9449308322" - } - }, - "component": [ - { - "code": { - "coding": [ - { - "system": "http://snomed.info/sct", - "code": "255247007", - "display": "Second trimester" - } - ] - } - } - ], - "effectiveDateTime": "2023-09-25", - "valueBoolean": false - }, - "request": { - "method": "POST", - "url": "Observation" - } - }, - { - "fullUrl": "urn:uuid:1ee371f7-00c5-4787-a910-89dc42cbbf47", - "resource": { - "resourceType": "Procedure", - "id": "1ee371f7-00c5-4787-a910-89dc42cbbf47", - "status": "completed", - "code": { - "coding": [ - { - "system": "http://snomed.info/sct", - "code": "52637005", - "display": "In vitro fertilisation" - } - ] - }, - "subject": { - "reference": "Patient/51008c44-551e-4272-a2a8-36f7d5363c9c", - "identifier": { - "system": "https://fhir.nhs.uk/Id/nhs-number", - "value": "9449308322" - } - }, - "performedDateTime": "2023-09-25", - "note": [ - { - "text": "Woman`s own egg" - } - ] - }, - "request": { - "method": "POST", - "url": "Procedure" - } - }, { "fullUrl": "urn:uuid:849705be-9ed3-499c-ab8a-5579dd02d305", "resource": { @@ -522,53 +119,24 @@ "ifNoneExist": "Patient?identifier=urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24|Fetus-A-8955713713" } }, - { - "fullUrl": "urn:uuid:6473db02-3c45-42f0-9b8c-9d063753f86b", - "resource": { - "resourceType": "RelatedPerson", - "id": "6473db02-3c45-42f0-9b8c-9d063753f86b", - "identifier": [ - { - "system": "https://fhir.nhs.uk/Id/nhs-number", - "value": "9449308322" - } - ], - "patient": { - "reference": "Patient/849705be-9ed3-499c-ab8a-5579dd02d305", - "identifier": { - "system": "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", - "value": "Fetus-A-8955713713", - "assigner": { - "identifier": { - "system": "https://fhir.nhs.uk/Id/ods-organization-code", - "value": "RAX" - } - } - } - }, - "relationship": [ - { - "coding": [ - { - "system": "http://terminology.hl7.org/CodeSystem/v3-RoleCode", - "code": "NMTHF", - "display": "natural mother of fetus" - } - ] - } - ] - }, - "request": { - "method": "POST", - "url": "RelatedPerson" - } - }, { "fullUrl": "urn:uuid:d302e6f8-c09f-4153-a669-8fa6b3a95d52", "resource": { "resourceType": "ServiceRequest", "id": "d302e6f8-c09f-4153-a669-8fa6b3a95d52", "extension": [ + { + "url": "https://fhir.nhs.uk/England/StructureDefinition/Extension-Genomic-Patient-Role", + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/patient-role-genomics", + "code": "proband", + "display": "Proband" + } + ] + } + }, { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { @@ -584,7 +152,7 @@ ], "requisition": { "system": "https://fhir.kingston-hospital-nhs-foundation-trust.nhs.uk/Id/grouptestId", - "value": "RR8F1792-TWIN", + "value": "RR8F20262701-01", "assigner": { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", @@ -643,47 +211,16 @@ } ], "supportingInfo": [ - { - "reference": "Observation/2f4ef82c-3125-4ebf-8d5e-e19b86ea47c6" - }, { "reference": "Observation/2a6e7070-5ea2-4ef3-96b6-607b474fcc0b" - }, - { - "reference": "Observation/b32f8456-be57-4f67-ade3-97a3a6cbda0a" - }, - { - "reference": "Observation/9080a716-c023-46c1-b479-b669074f4b3e" - }, - { - "reference": "Observation/7c3a876d-3e62-42e1-8fcf-2c233eba8289" - }, - { - "reference": "Observation/41654044-afd4-4b5d-add5-16afc73f97a5" - }, - { - "reference": "Observation/4512e4e9-9b42-4464-b52f-81e5f7e380b0" - }, - { - "reference": "Procedure/1ee371f7-00c5-4787-a910-89dc42cbbf47" - }, - { - "reference": "RelatedPerson/6473db02-3c45-42f0-9b8c-9d063753f86b" - }, - { - "reference": "Patient/51008c44-551e-4272-a2a8-36f7d5363c9c" - }, + } + ], + "specimen": [ { "reference": "Specimen/9fa291ba-d9a4-46a9-87e5-486bcaae47fa" } ], "note": [ - { - "text": "Samples are to be provided at a later date" - }, - { - "text": "No family history of relevant testing" - }, { "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder" } @@ -756,21 +293,21 @@ } }, { - "fullUrl": "urn:uuid:a3e24d16-9079-4b07-b406-5c28f05bea8c", + "fullUrl": "urn:uuid:6473db02-3c45-42f0-9b8c-9d063753f86b", "resource": { - "resourceType": "Patient", - "id": "a3e24d16-9079-4b07-b406-5c28f05bea8c", - "extension": [ + "resourceType": "RelatedPerson", + "id": "6473db02-3c45-42f0-9b8c-9d063753f86b", + "identifier": [ { - "url": "http://hl7.org/fhir/6.0/StructureDefinition/extension-Patient.fetalStatus", - "valueCode": "potential-for-live-birth" + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449308322" } ], - "gender": "unknown", - "identifier": [ - { + "patient": { + "reference": "Patient/849705be-9ed3-499c-ab8a-5579dd02d305", + "identifier": { "system": "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", - "value": "Fetus-B-7855713723", + "value": "Fetus-A-8955713713", "assigner": { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", @@ -778,37 +315,38 @@ } } } - ], - "name": [ + }, + "relationship": [ { - "given": [ - "FETUS B" - ], - "family": "MUM" + "coding": [ + { + "system": "http://terminology.hl7.org/CodeSystem/v3-RoleCode", + "code": "NMTHF", + "display": "natural mother of fetus" + } + ] } - ], - "multipleBirthBoolean": true + ] }, "request": { "method": "POST", - "url": "Patient", - "ifNoneExist": "Patient?identifier=urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24|Fetus-B-7855713723" + "url": "RelatedPerson" } }, { - "fullUrl": "urn:uuid:86c36eee-13fe-4e50-b62e-afbdb11c4325", + "fullUrl": "urn:uuid:a3e24d16-9079-4b07-b406-5c28f05bea8c", "resource": { - "resourceType": "RelatedPerson", - "id": "86c36eee-13fe-4e50-b62e-afbdb11c4325", - "identifier": [ + "resourceType": "Patient", + "id": "a3e24d16-9079-4b07-b406-5c28f05bea8c", + "extension": [ { - "system": "https://fhir.nhs.uk/Id/nhs-number", - "value": "9449308322" + "url": "http://hl7.org/fhir/6.0/StructureDefinition/extension-Patient.fetalStatus", + "valueCode": "potential-for-live-birth" } ], - "patient": { - "reference": "Patient/a3e24d16-9079-4b07-b406-5c28f05bea8c", - "identifier": { + "gender": "unknown", + "identifier": [ + { "system": "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", "value": "Fetus-B-7855713723", "assigner": { @@ -818,22 +356,21 @@ } } } - }, - "relationship": [ + ], + "name": [ { - "coding": [ - { - "system": "http://terminology.hl7.org/CodeSystem/v3-RoleCode", - "code": "NMTHF", - "display": "natural mother of fetus" - } - ] + "given": [ + "FETUS B" + ], + "family": "MUM" } - ] + ], + "multipleBirthBoolean": true }, "request": { "method": "POST", - "url": "RelatedPerson" + "url": "Patient", + "ifNoneExist": "Patient?identifier=urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24|Fetus-B-7855713723" } }, { @@ -842,6 +379,18 @@ "resourceType": "ServiceRequest", "id": "1b5e2983-3573-4e1a-b5b9-ad646f0f2679", "extension": [ + { + "url": "https://fhir.nhs.uk/England/StructureDefinition/Extension-Genomic-Patient-Role", + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/patient-role-genomics", + "code": "proband", + "display": "Proband" + } + ] + } + }, { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { @@ -857,7 +406,7 @@ ], "requisition": { "system": "https://fhir.kingston-hospital-nhs-foundation-trust.nhs.uk/Id/grouptestId", - "value": "RR8F1792-TWIN", + "value": "RR8F2026-2801-2", "assigner": { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", @@ -892,7 +441,7 @@ "subject": { "reference": "Patient/a3e24d16-9079-4b07-b406-5c28f05bea8c" }, - "authoredOn": "2023-09-25", + "authoredOn": "2026-01-27", "requester": { "reference": "PractitionerRole/01f81774-4153-4c18-a7df-1c4cdbba4f2f" }, @@ -916,47 +465,16 @@ } ], "supportingInfo": [ - { - "reference": "Observation/2f4ef82c-3125-4ebf-8d5e-e19b86ea47c6" - }, { "reference": "Observation/6a05db05-0156-46dd-8c63-f91c565950ce" - }, - { - "reference": "Observation/b32f8456-be57-4f67-ade3-97a3a6cbda0a" - }, - { - "reference": "Observation/9080a716-c023-46c1-b479-b669074f4b3e" - }, - { - "reference": "Observation/7c3a876d-3e62-42e1-8fcf-2c233eba8289" - }, - { - "reference": "Observation/41654044-afd4-4b5d-add5-16afc73f97a5" - }, - { - "reference": "Observation/4512e4e9-9b42-4464-b52f-81e5f7e380b0" - }, - { - "reference": "Procedure/1ee371f7-00c5-4787-a910-89dc42cbbf47" - }, - { - "reference": "RelatedPerson/86c36eee-13fe-4e50-b62e-afbdb11c4325" - }, - { - "reference": "Patient/51008c44-551e-4272-a2a8-36f7d5363c9c" - }, + } + ], + "specimen": [ { "reference": "Specimen/8cf0addd-2f93-4c3e-b762-31682d0552c8" } ], "note": [ - { - "text": "Samples are to be provided at a later date" - }, - { - "text": "No family history of relevant testing" - }, { "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder" } @@ -994,38 +512,44 @@ } }, { - "fullUrl": "urn:uuid:8cf0addd-2f93-4c3e-b762-31682d0552c8", + "fullUrl": "urn:uuid:86c36eee-13fe-4e50-b62e-afbdb11c4325", "resource": { - "resourceType": "Specimen", - "id": "8cf0addd-2f93-4c3e-b762-31682d0552c8", + "resourceType": "RelatedPerson", + "id": "86c36eee-13fe-4e50-b62e-afbdb11c4325", "identifier": [ { - "system": "https://fhir.add.nhs.uk/Id/specimenId", - "value": "RGT70230498" + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449308322" } ], - "status": "unavailable", - "type": { - "coding": [ - { - "system": "http://snomed.info/sct", - "code": "258565009", - "display": "Chorionic villi specimen" + "patient": { + "reference": "Patient/a3e24d16-9079-4b07-b406-5c28f05bea8c", + "identifier": { + "system": "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", + "value": "Fetus-B-7855713723", + "assigner": { + "identifier": { + "system": "https://fhir.nhs.uk/Id/ods-organization-code", + "value": "RAX" + } } - ] - }, - "subject": { - "reference": "Patient/a3e24d16-9079-4b07-b406-5c28f05bea8c" + } }, - "request": [ + "relationship": [ { - "reference": "ServiceRequest/1b5e2983-3573-4e1a-b5b9-ad646f0f2679" + "coding": [ + { + "system": "http://terminology.hl7.org/CodeSystem/v3-RoleCode", + "code": "NMTHF", + "display": "natural mother of fetus" + } + ] } ] }, "request": { "method": "POST", - "url": "Specimen" + "url": "RelatedPerson" } } ] From 19332ac69650e726d262230a2aa3f4ce42c358b9 Mon Sep 17 00:00:00 2001 From: KazeemHamzat Date: Tue, 27 Jan 2026 21:32:52 +0000 Subject: [PATCH 2/5] Add SR`s for Consultand Add SR`s for Consultand --- ...onWGSScenario3-FetusAsProband-Example.json | 10 +- ...rio4-ProbandWithMultipleFetus-Example.json | 608 ++++++++++++++++++ 2 files changed, 613 insertions(+), 5 deletions(-) diff --git a/Bundle/Bundle-NonWGSScenario3-FetusAsProband-Example.json b/Bundle/Bundle-NonWGSScenario3-FetusAsProband-Example.json index 7add5a0..a729212 100644 --- a/Bundle/Bundle-NonWGSScenario3-FetusAsProband-Example.json +++ b/Bundle/Bundle-NonWGSScenario3-FetusAsProband-Example.json @@ -222,17 +222,17 @@ "supportingInfo": [ { "reference": "Observation/2a6e7070-5ea2-4ef3-96b6-607b474fcc0b" - }, - { - "reference": "Observation/4512e4e9-9b42-4464-b52f-81e5f7e380b0" } ], "specimen": [ { "reference": "Specimen/9fa291ba-d9a4-46a9-87e5-486bcaae47fa" } - ] + ], "note": [ + { + "text": "Samples are to be provided at a later date" + }, { "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder" } @@ -772,4 +772,4 @@ } } ] -} +} \ No newline at end of file diff --git a/Bundle/Bundle-NonWGSScenario4-ProbandWithMultipleFetus-Example.json b/Bundle/Bundle-NonWGSScenario4-ProbandWithMultipleFetus-Example.json index 7456226..ca39fe6 100644 --- a/Bundle/Bundle-NonWGSScenario4-ProbandWithMultipleFetus-Example.json +++ b/Bundle/Bundle-NonWGSScenario4-ProbandWithMultipleFetus-Example.json @@ -221,6 +221,9 @@ } ], "note": [ + { + "text": "Samples are to be provided at a later date" + }, { "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder" } @@ -475,6 +478,9 @@ } ], "note": [ + { + "text": "Samples are to be provided at a later date" + }, { "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder" } @@ -511,6 +517,41 @@ "url": "Observation" } }, + { + "fullUrl": "urn:uuid:8cf0addd-2f93-4c3e-b762-31682d0552c8", + "resource": { + "resourceType": "Specimen", + "id": "8cf0addd-2f93-4c3e-b762-31682d0552c8", + "identifier": [ + { + "system": "https://fhir.add.nhs.uk/Id/specimenId", + "value": "RGT70230498" + } + ], + "status": "unavailable", + "type": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "258565009", + "display": "Chorionic villi specimen" + } + ] + }, + "subject": { + "reference": "Patient/a3e24d16-9079-4b07-b406-5c28f05bea8c" + }, + "request": [ + { + "reference": "ServiceRequest/1b5e2983-3573-4e1a-b5b9-ad646f0f2679" + } + ] + }, + "request": { + "method": "POST", + "url": "Specimen" + } + }, { "fullUrl": "urn:uuid:86c36eee-13fe-4e50-b62e-afbdb11c4325", "resource": { @@ -551,6 +592,573 @@ "method": "POST", "url": "RelatedPerson" } + }, + { + "fullUrl": "urn:uuid:e302e6f8-c09f-4153-a669-8fa6b3a95d53", + "resource": { + "resourceType": "ServiceRequest", + "id": "e302e6f8-c09f-4153-a669-8fa6b3a95d53", + "extension": [ + { + "url": "https://fhir.nhs.uk/England/StructureDefinition/Extension-Genomic-Patient-Role", + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/patient-role-genomics", + "code": "consultand", + "display": "Consultand" + } + ] + } + }, + { + "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" + } + ] + } + } + ], + "requisition": { + "system": "https://fhir.kingston-hospital-nhs-foundation-trust.nhs.uk/Id/grouptestId", + "value": "RR8F20262701-01", + "assigner": { + "identifier": { + "system": "https://fhir.nhs.uk/Id/ods-organization-code", + "value": "RR8" + } + } + }, + "status": "active", + "intent": "order", + "category": [ + { + "coding": [ + { + "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", + "code": "rare-disease-non-wgs", + "display": "Rare Disease - Non-WGS" + } + ] + } + ], + "priority": "urgent", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", + "code": "R21.1", + "display": "Fetal anomalies with a likely genetic cause", + "version": "7" + } + ] + }, + "subject": { + "reference": "Patient/51008c44-551e-4272-a2a8-36f7d5363c9c", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449308322" + } + }, + "authoredOn": "2026-01-27", + "requester": { + "reference": "PractitionerRole/01f81774-4153-4c18-a7df-1c4cdbba4f2f" + }, + "performer": [ + { + "identifier": { + "system": "https://fhir.nhs.uk/Id/ods-organization-code", + "value": "699N0" + } + } + ], + "reasonCode": [ + { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics", + "code": "staging-or-prognosis", + "display": "Staging or Prognosis" + } + ] + } + ], + "supportingInfo": [ + { + "reference": "Observation/2f4ef82c-3125-4ebf-8d5e-e19b86ea47c6" + }, + { + "reference": "Observation/b32f8456-be57-4f67-ade3-97a3a6cbda0a" + }, + { + "reference": "Observation/9080a716-c023-46c1-b479-b669074f4b3e" + }, + { + "reference": "Observation/7c3a876d-3e62-42e1-8fcf-2c233eba8289" + }, + { + "reference": "Observation/41654044-afd4-4b5d-add5-16afc73f97a5" + }, + { + "reference": "Observation/4512e4e9-9b42-4464-b52f-81e5f7e380b0" + }, + { + "reference": "Procedure/1ee371f7-00c5-4787-a910-89dc42cbbf47" + }, + { + "reference": "RelatedPerson/6473db02-3c45-42f0-9b8c-9d063753f86b" + } + ], + "note": [ + { + "text": "Samples are to be provided at a later date" + }, + { + "text": "No family history of relevant testing" + }, + { + "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder" + } + ] + }, + "request": { + "method": "POST", + "url": "ServiceRequest" + } + }, + { + "fullUrl": "urn:uuid:e302e6f8-c09f-4153-a669-8fa6b3a95d53", + "resource": { + "resourceType": "ServiceRequest", + "id": "e302e6f8-c09f-4153-a669-8fa6b3a95d53", + "extension": [ + { + "url": "https://fhir.nhs.uk/England/StructureDefinition/Extension-Genomic-Patient-Role", + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/patient-role-genomics", + "code": "consultand", + "display": "Consultand" + } + ] + } + }, + { + "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" + } + ] + } + } + ], + "requisition": { + "system": "https://fhir.kingston-hospital-nhs-foundation-trust.nhs.uk/Id/grouptestId", + "value": "RR8F2026-2801-2", + "assigner": { + "identifier": { + "system": "https://fhir.nhs.uk/Id/ods-organization-code", + "value": "RR8" + } + } + }, + "status": "active", + "intent": "order", + "category": [ + { + "coding": [ + { + "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", + "code": "rare-disease-non-wgs", + "display": "Rare Disease - Non-WGS" + } + ] + } + ], + "priority": "urgent", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", + "code": "R21.1", + "display": "Fetal anomalies with a likely genetic cause", + "version": "7" + } + ] + }, + "subject": { + "reference": "Patient/51008c44-551e-4272-a2a8-36f7d5363c9c", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449308322" + } + }, + "authoredOn": "2026-01-27", + "requester": { + "reference": "PractitionerRole/01f81774-4153-4c18-a7df-1c4cdbba4f2f" + }, + "performer": [ + { + "identifier": { + "system": "https://fhir.nhs.uk/Id/ods-organization-code", + "value": "699N0" + } + } + ], + "reasonCode": [ + { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics", + "code": "staging-or-prognosis", + "display": "Staging or Prognosis" + } + ] + } + ], + "supportingInfo": [ + { + "reference": "Observation/2f4ef82c-3125-4ebf-8d5e-e19b86ea47c6" + }, + { + "reference": "Observation/b32f8456-be57-4f67-ade3-97a3a6cbda0a" + }, + { + "reference": "Observation/9080a716-c023-46c1-b479-b669074f4b3e" + }, + { + "reference": "Observation/7c3a876d-3e62-42e1-8fcf-2c233eba8289" + }, + { + "reference": "Observation/41654044-afd4-4b5d-add5-16afc73f97a5" + }, + { + "reference": "Observation/4512e4e9-9b42-4464-b52f-81e5f7e380b0" + }, + { + "reference": "Procedure/1ee371f7-00c5-4787-a910-89dc42cbbf47" + }, + { + "reference": "RelatedPerson/6473db02-3c45-42f0-9b8c-9d063753f86b" + } + ], + "note": [ + { + "text": "Samples are to be provided at a later date" + }, + { + "text": "No family history of relevant testing" + }, + { + "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder" + } + ] + }, + "request": { + "method": "POST", + "url": "ServiceRequest" + } + }, + { + "fullUrl": "urn:uuid:2f4ef82c-3125-4ebf-8d5e-e19b86ea47c6", + "resource": { + "resourceType": "Observation", + "id": "2f4ef82c-3125-4ebf-8d5e-e19b86ea47c6", + "status": "final", + "code": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "161743003", + "display": "Past pregnancy history of stillbirth" + } + ], + "text": "Is the testing for a fetal loss from 24+0 or more weeks of gestation?" + }, + "subject": { + "reference": "Patient/51008c44-551e-4272-a2a8-36f7d5363c9c", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449308322" + } + }, + "effectiveDateTime": "2023-09-25", + "valueBoolean": false + }, + "request": { + "method": "POST", + "url": "Observation" + } + }, + { + "fullUrl": "urn:uuid:b32f8456-be57-4f67-ade3-97a3a6cbda0a", + "resource": { + "resourceType": "Observation", + "id": "b32f8456-be57-4f67-ade3-97a3a6cbda0a", + "status": "preliminary", + "code": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "723621000000103", + "display": "Ethnicity" + } + ] + }, + "subject": { + "reference": "Patient/51008c44-551e-4272-a2a8-36f7d5363c9c", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449308322" + } + }, + "valueString": "unknown" + }, + "request": { + "method": "POST", + "url": "Observation" + } + }, + { + "fullUrl": "urn:uuid:9080a716-c023-46c1-b479-b669074f4b3e", + "resource": { + "resourceType": "Observation", + "id": "9080a716-c023-46c1-b479-b669074f4b3e", + "status": "final", + "code": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "77386006", + "display": "Pregnancy" + } + ] + }, + "subject": { + "reference": "Patient/51008c44-551e-4272-a2a8-36f7d5363c9c", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449308322" + } + }, + "component": [ + { + "code": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "720451000000102", + "display": "Assisted conception" + } + ] + } + }, + { + "code": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "226081000000107", + "display": "Gestational age" + } + ] + }, + "valueQuantity": { + "value": 87, + "unit": "day", + "system": "http://unitsofmeasure.org", + "code": "d" + } + }, + { + "code": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "161714006", + "display": "Estimated date of delivery" + } + ] + }, + "valueDateTime": "2024-05-01" + } + ], + "effectiveDateTime": "2023-09-25" + }, + "request": { + "method": "POST", + "url": "Observation" + } + }, + { + "fullUrl": "urn:uuid:7c3a876d-3e62-42e1-8fcf-2c233eba8289", + "resource": { + "resourceType": "Observation", + "id": "7c3a876d-3e62-42e1-8fcf-2c233eba8289", + "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/51008c44-551e-4272-a2a8-36f7d5363c9c", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449308322" + } + }, + "effectiveDateTime": "2023-09-25" + }, + "request": { + "method": "POST", + "url": "Observation" + } + }, + { + "fullUrl": "urn:uuid:41654044-afd4-4b5d-add5-16afc73f97a5", + "resource": { + "resourceType": "Observation", + "id": "41654044-afd4-4b5d-add5-16afc73f97a5", + "status": "final", + "code": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "609520005", + "display": "Disorder of fetal structure" + } + ], + "text": "First Trimester Anomalies?" + }, + "subject": { + "reference": "Patient/51008c44-551e-4272-a2a8-36f7d5363c9c", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449308322" + } + }, + "component": [ + { + "code": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "255246003", + "display": "First trimester" + } + ] + } + } + ], + "effectiveDateTime": "2023-09-25", + "valueBoolean": false + }, + "request": { + "method": "POST", + "url": "Observation" + } + }, + { + "fullUrl": "urn:uuid:4512e4e9-9b42-4464-b52f-81e5f7e380b0", + "resource": { + "resourceType": "Observation", + "id": "4512e4e9-9b42-4464-b52f-81e5f7e380b0", + "status": "final", + "code": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "609520005", + "display": "Disorder of fetal structure" + } + ], + "text": "Second Trimester Anomalies?" + }, + "subject": { + "reference": "Patient/51008c44-551e-4272-a2a8-36f7d5363c9c", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449308322" + } + }, + "component": [ + { + "code": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "255247007", + "display": "Second trimester" + } + ] + } + } + ], + "effectiveDateTime": "2023-09-25", + "valueBoolean": false + }, + "request": { + "method": "POST", + "url": "Observation" + } + }, + { + "fullUrl": "urn:uuid:1ee371f7-00c5-4787-a910-89dc42cbbf47", + "resource": { + "resourceType": "Procedure", + "id": "1ee371f7-00c5-4787-a910-89dc42cbbf47", + "status": "completed", + "code": { + "coding": [ + { + "system": "http://snomed.info/sct", + "code": "52637005", + "display": "In vitro fertilisation" + } + ] + }, + "subject": { + "reference": "Patient/51008c44-551e-4272-a2a8-36f7d5363c9c", + "identifier": { + "system": "https://fhir.nhs.uk/Id/nhs-number", + "value": "9449308322" + } + }, + "performedDateTime": "2023-09-25", + "note": [ + { + "text": "Woman`s own egg" + } + ] + }, + "request": { + "method": "POST", + "url": "Procedure" + } } ] } \ No newline at end of file From 0d808b5444838796e5a9342e41d5739ff3d33850 Mon Sep 17 00:00:00 2001 From: KazeemHamzat Date: Tue, 27 Jan 2026 21:46:19 +0000 Subject: [PATCH 3/5] Resolving Duplicate SR ID Resolving Duplicate SR ID for Consultand --- ...ndle-NonWGSScenario4-ProbandWithMultipleFetus-Example.json | 4 ++-- 1 file changed, 2 insertions(+), 2 deletions(-) diff --git a/Bundle/Bundle-NonWGSScenario4-ProbandWithMultipleFetus-Example.json b/Bundle/Bundle-NonWGSScenario4-ProbandWithMultipleFetus-Example.json index ca39fe6..0c740bf 100644 --- a/Bundle/Bundle-NonWGSScenario4-ProbandWithMultipleFetus-Example.json +++ b/Bundle/Bundle-NonWGSScenario4-ProbandWithMultipleFetus-Example.json @@ -732,10 +732,10 @@ } }, { - "fullUrl": "urn:uuid:e302e6f8-c09f-4153-a669-8fa6b3a95d53", + "fullUrl": "urn:uuid:w302e6f8-c09f-4153-a669-8fa6b3a95d54", "resource": { "resourceType": "ServiceRequest", - "id": "e302e6f8-c09f-4153-a669-8fa6b3a95d53", + "id": "w302e6f8-c09f-4153-a669-8fa6b3a95d54", "extension": [ { "url": "https://fhir.nhs.uk/England/StructureDefinition/Extension-Genomic-Patient-Role", From 7e1f342a6a6157f9bcd86ffe04e7be43812dbbda Mon Sep 17 00:00:00 2001 From: KazeemHamzat Date: Tue, 27 Jan 2026 21:55:24 +0000 Subject: [PATCH 4/5] Resolving GUID Issues Resolving GUID Issues --- ...ndle-NonWGSScenario4-ProbandWithMultipleFetus-Example.json | 4 ++-- 1 file changed, 2 insertions(+), 2 deletions(-) diff --git a/Bundle/Bundle-NonWGSScenario4-ProbandWithMultipleFetus-Example.json b/Bundle/Bundle-NonWGSScenario4-ProbandWithMultipleFetus-Example.json index 0c740bf..42379e0 100644 --- a/Bundle/Bundle-NonWGSScenario4-ProbandWithMultipleFetus-Example.json +++ b/Bundle/Bundle-NonWGSScenario4-ProbandWithMultipleFetus-Example.json @@ -732,10 +732,10 @@ } }, { - "fullUrl": "urn:uuid:w302e6f8-c09f-4153-a669-8fa6b3a95d54", + "fullUrl": "urn:uuid:f1c65fec-e93c-4ebf-bd64-2e832bd1f480", "resource": { "resourceType": "ServiceRequest", - "id": "w302e6f8-c09f-4153-a669-8fa6b3a95d54", + "id": "f1c65fec-e93c-4ebf-bd64-2e832bd1f480", "extension": [ { "url": "https://fhir.nhs.uk/England/StructureDefinition/Extension-Genomic-Patient-Role", From ea24b166e2e072ed5b3cd5d448a3326f97b6c8b5 Mon Sep 17 00:00:00 2001 From: Omar Khan <41755223+omarisgreat@users.noreply.github.com> Date: Tue, 27 Jan 2026 22:44:28 +0000 Subject: [PATCH 5/5] Corrected RelatedPerson reference in second Consultand request --- ...ndle-NonWGSScenario4-ProbandWithMultipleFetus-Example.json | 4 ++-- 1 file changed, 2 insertions(+), 2 deletions(-) diff --git a/Bundle/Bundle-NonWGSScenario4-ProbandWithMultipleFetus-Example.json b/Bundle/Bundle-NonWGSScenario4-ProbandWithMultipleFetus-Example.json index 42379e0..6744b1d 100644 --- a/Bundle/Bundle-NonWGSScenario4-ProbandWithMultipleFetus-Example.json +++ b/Bundle/Bundle-NonWGSScenario4-ProbandWithMultipleFetus-Example.json @@ -849,7 +849,7 @@ "reference": "Procedure/1ee371f7-00c5-4787-a910-89dc42cbbf47" }, { - "reference": "RelatedPerson/6473db02-3c45-42f0-9b8c-9d063753f86b" + "reference": "RelatedPerson/86c36eee-13fe-4e50-b62e-afbdb11c4325" } ], "note": [ @@ -1161,4 +1161,4 @@ } } ] -} \ No newline at end of file +}