Bundle-NonWGSScenario4-ProbandWithMultipleFetus-Example

Example of a Non-WGS test request sent to the central broker, as described in the Clinical Scenario:Fetus Management

Bundle
{
"resourceType": "Bundle",
"id": "Bundle-NonWGSScenario4-ProbandWithMultipleFetus-Example",
"type": "transaction",
"entry": [
{
"fullUrl": "urn:uuid:01f81774-4153-4c18-a7df-1c4cdbba4f2f",
"resource": {
"resourceType": "PractitionerRole",
"id": "01f81774-4153-4c18-a7df-1c4cdbba4f2f",
"practitioner": {
"identifier": {
"system": "https://fhir.nhs.uk/Id/sds-user-id",
"value": "3208835210"
},
"display": "Dr. Lois Lane"
},
"organization": {
"identifier": {
"system": "https://fhir.nhs.uk/Id/ods-organization-code",
"value": "RAX01"
},
"display": "Kingston Hospital"
},
"specialty": [
{
"coding": [
{
"system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode",
"code": "311",
"display": "Clinical Genetics"
}
]
}
],
"telecom": [
{
"system": "phone",
"value": "02085467711"
},
{
"system": "email",
"value": "Hazel.smith12@nhs.net"
},
{
"system": "email",
"value": "clinicalgeneticskingston@nhs.net",
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/contactpoint-comment",
"valueString": "reporting"
}
]
},
{
"system": "email",
"value": "fetalmedicinekingston@nhs.net",
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/contactpoint-comment",
"valueString": "reporting"
}
]
},
{
"system": "email",
"value": "gptestpracticekingston@nhs.net",
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/contactpoint-comment",
"valueString": "reporting"
}
]
}
]
},
"request": {
"method": "POST",
"url": "PractitionerRole"
}
},
{
"fullUrl": "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": {
"resourceType": "Patient",
"id": "849705be-9ed3-499c-ab8a-5579dd02d305",
"extension": [
{
"url": "http://hl7.org/fhir/6.0/StructureDefinition/extension-Patient.fetalStatus",
"valueCode": "potential-for-live-birth"
}
],
"gender": "unknown",
"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"
}
}
}
],
"name": [
{
"given": [
"FETUS A"
],
"family": "MUM"
}
],
"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-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.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": "RR8F1792-TWIN",
"assigner": {
"identifier": {
"system": "https://fhir.nhs.uk/Id/ods-organization-code",
"value": "RAX"
}
}
},
"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/849705be-9ed3-499c-ab8a-5579dd02d305"
},
"authoredOn": "2023-09-25",
"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/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"
},
{
"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"
}
]
},
"request": {
"method": "POST",
"url": "ServiceRequest"
}
},
{
"fullUrl": "urn:uuid:2a6e7070-5ea2-4ef3-96b6-607b474fcc0b",
"resource": {
"resourceType": "Observation",
"id": "2a6e7070-5ea2-4ef3-96b6-607b474fcc0b",
"status": "final",
"code": {
"coding": [
{
"system": "http://snomed.info/sct",
"code": "160475008",
"display": "Family history of consanguinity"
}
]
},
"subject": {
"reference": "Patient/849705be-9ed3-499c-ab8a-5579dd02d305"
},
"effectiveDateTime": "2023-09-25",
"valueBoolean": false
},
"request": {
"method": "POST",
"url": "Observation"
}
},
{
"fullUrl": "urn:uuid:9fa291ba-d9a4-46a9-87e5-486bcaae47fa",
"resource": {
"resourceType": "Specimen",
"id": "9fa291ba-d9a4-46a9-87e5-486bcaae47fa",
"identifier": [
{
"system": "https://fhir.add.nhs.uk/Id/specimenId",
"value": "RGT70280930"
}
],
"status": "unavailable",
"type": {
"coding": [
{
"system": "http://snomed.info/sct",
"code": "258565009",
"display": "Chorionic villi specimen"
}
]
},
"subject": {
"reference": "Patient/849705be-9ed3-499c-ab8a-5579dd02d305"
},
"request": [
{
"reference": "ServiceRequest/d302e6f8-c09f-4153-a669-8fa6b3a95d52"
}
]
},
"request": {
"method": "POST",
"url": "Specimen"
}
},
{
"fullUrl": "urn:uuid:a3e24d16-9079-4b07-b406-5c28f05bea8c",
"resource": {
"resourceType": "Patient",
"id": "a3e24d16-9079-4b07-b406-5c28f05bea8c",
"extension": [
{
"url": "http://hl7.org/fhir/6.0/StructureDefinition/extension-Patient.fetalStatus",
"valueCode": "potential-for-live-birth"
}
],
"gender": "unknown",
"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"
}
}
}
],
"name": [
{
"given": [
"FETUS B"
],
"family": "MUM"
}
],
"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"
}
},
{
"fullUrl": "urn:uuid:86c36eee-13fe-4e50-b62e-afbdb11c4325",
"resource": {
"resourceType": "RelatedPerson",
"id": "86c36eee-13fe-4e50-b62e-afbdb11c4325",
"identifier": [
{
"system": "https://fhir.nhs.uk/Id/nhs-number",
"value": "9449308322"
}
],
"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"
}
}
}
},
"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:1b5e2983-3573-4e1a-b5b9-ad646f0f2679",
"resource": {
"resourceType": "ServiceRequest",
"id": "1b5e2983-3573-4e1a-b5b9-ad646f0f2679",
"extension": [
{
"url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage",
"valueCodeableConcept": {
"coding": [
{
"system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory",
"code": "nhs-england",
"display": "NHS England"
}
]
}
}
],
"requisition": {
"system": "https://fhir.kingston-hospital-nhs-foundation-trust.nhs.uk/Id/grouptestId",
"value": "RR8F1792-TWIN",
"assigner": {
"identifier": {
"system": "https://fhir.nhs.uk/Id/ods-organization-code",
"value": "RAX"
}
}
},
"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/a3e24d16-9079-4b07-b406-5c28f05bea8c"
},
"authoredOn": "2023-09-25",
"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/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"
},
{
"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"
}
]
},
"request": {
"method": "POST",
"url": "ServiceRequest"
}
},
{
"fullUrl": "urn:uuid:6a05db05-0156-46dd-8c63-f91c565950ce",
"resource": {
"resourceType": "Observation",
"id": "6a05db05-0156-46dd-8c63-f91c565950ce",
"status": "final",
"code": {
"coding": [
{
"system": "http://snomed.info/sct",
"code": "160475008",
"display": "Family history of consanguinity"
}
]
},
"subject": {
"reference": "Patient/a3e24d16-9079-4b07-b406-5c28f05bea8c"
},
"effectiveDateTime": "2023-09-25",
"valueBoolean": false
},
"request": {
"method": "POST",
"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"
}
}
]
}
<Bundle xmlns="http://hl7.org/fhir">
<id value="Bundle-NonWGSScenario4-ProbandWithMultipleFetus-Example" />
<type value="transaction" />
<entry>
<fullUrl value="urn:uuid:01f81774-4153-4c18-a7df-1c4cdbba4f2f" />
<resource>
<PractitionerRole>
<id value="01f81774-4153-4c18-a7df-1c4cdbba4f2f" />
<practitioner>
<identifier>
<system value="https://fhir.nhs.uk/Id/sds-user-id" />
<value value="3208835210" />
</identifier>
<display value="Dr. Lois Lane" />
</practitioner>
<organization>
<identifier>
<system value="https://fhir.nhs.uk/Id/ods-organization-code" />
<value value="RAX01" />
</identifier>
<display value="Kingston Hospital" />
</organization>
<specialty>
<coding>
<system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode" />
<code value="311" />
<display value="Clinical Genetics" />
</coding>
</specialty>
<telecom>
<system value="phone" />
<value value="02085467711" />
</telecom>
<telecom>
<system value="email" />
<value value="Hazel.smith12@nhs.net" />
</telecom>
<telecom>
<extension url="http://hl7.org/fhir/StructureDefinition/contactpoint-comment">
<valueString value="reporting" />
</extension>
<system value="email" />
<value value="clinicalgeneticskingston@nhs.net" />
</telecom>
<telecom>
<extension url="http://hl7.org/fhir/StructureDefinition/contactpoint-comment">
<valueString value="reporting" />
</extension>
<system value="email" />
<value value="fetalmedicinekingston@nhs.net" />
</telecom>
<telecom>
<extension url="http://hl7.org/fhir/StructureDefinition/contactpoint-comment">
<valueString value="reporting" />
</extension>
<system value="email" />
<value value="gptestpracticekingston@nhs.net" />
</telecom>
</PractitionerRole>
</resource>
<request>
<method value="POST" />
<url value="PractitionerRole" />
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:51008c44-551e-4272-a2a8-36f7d5363c9c" />
<resource>
<Patient>
<id value="51008c44-551e-4272-a2a8-36f7d5363c9c" />
<extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex">
<valueCodeableConcept>
<coding>
<system value="http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender" />
<code value="F" />
<display value="Female" />
</coding>
</valueCodeableConcept>
</extension>
<extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-EthnicCategory">
<valueCodeableConcept>
<coding>
<system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-EthnicCategoryEngland" />
<code value="A" />
<display value="White - British" />
</coding>
</valueCodeableConcept>
</extension>
<identifier>
<extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus">
<valueCodeableConcept>
<coding>
<system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland" />
<version value="1.1.1" />
<code value="01" />
<display value="Number present and verified" />
</coding>
</valueCodeableConcept>
</extension>
<system value="https://fhir.nhs.uk/Id/nhs-number" />
<value value="9449308322" />
</identifier>
<identifier>
<system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" />
<value value="02848675" />
<assigner>
<identifier>
<system value="https://fhir.nhs.uk/Id/ods-organization-code" />
<value value="RAX01" />
</identifier>
</assigner>
</identifier>
<name>
<family value="Boulder" />
<given value="Ryanne" />
</name>
<birthDate value="1980-09-02" />
<deceasedBoolean value="false" />
<address>
<line value="32 THE AVENUE" />
<line value="BERWICK COURT" />
<postalCode value="KT4 8HE" />
</address>
<generalPractitioner>
<identifier>
<system value="https://fhir.hl7.org.uk/Id/gmp-number" />
<value value="G9999999" />
</identifier>
<display value="Dr. Aero Smith" />
</generalPractitioner>
<generalPractitioner>
<identifier>
<system value="https://fhir.hl7.org.uk/Id/ODS-code" />
<value value="AP123" />
</identifier>
<display value="anywhere place" />
</generalPractitioner>
<link>
<other>
<reference value="RelatedPerson/6473db02-3c45-42f0-9b8c-9d063753f86b" />
</other>
<type value="seealso" />
</link>
</Patient>
</resource>
<request>
<method value="POST" />
<url value="Patient" />
<ifNoneExist value="Patient?identifier=https://fhir.nhs.uk/Id/nhs-number|9449308322" />
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:2f4ef82c-3125-4ebf-8d5e-e19b86ea47c6" />
<resource>
<Observation>
<id value="2f4ef82c-3125-4ebf-8d5e-e19b86ea47c6" />
<status value="final" />
<code>
<coding>
<system value="http://snomed.info/sct" />
<code value="161743003" />
<display value="Past pregnancy history of stillbirth" />
</coding>
<text value="Is the testing for a fetal loss from 24+0 or more weeks of gestation?" />
</code>
<subject>
<reference value="Patient/51008c44-551e-4272-a2a8-36f7d5363c9c" />
<identifier>
<system value="https://fhir.nhs.uk/Id/nhs-number" />
<value value="9449308322" />
</identifier>
</subject>
<effectiveDateTime value="2023-09-25" />
<valueBoolean value="false" />
</Observation>
</resource>
<request>
<method value="POST" />
<url value="Observation" />
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:9080a716-c023-46c1-b479-b669074f4b3e" />
<resource>
<Observation>
<id value="9080a716-c023-46c1-b479-b669074f4b3e" />
<status value="final" />
<code>
<coding>
<system value="http://snomed.info/sct" />
<code value="77386006" />
<display value="Pregnancy" />
</coding>
</code>
<subject>
<reference value="Patient/51008c44-551e-4272-a2a8-36f7d5363c9c" />
<identifier>
<system value="https://fhir.nhs.uk/Id/nhs-number" />
<value value="9449308322" />
</identifier>
</subject>
<effectiveDateTime value="2023-09-25" />
<component>
<code>
<coding>
<system value="http://snomed.info/sct" />
<code value="720451000000102" />
<display value="Assisted conception" />
</coding>
</code>
</component>
<component>
<code>
<coding>
<system value="http://snomed.info/sct" />
<code value="226081000000107" />
<display value="Gestational age" />
</coding>
</code>
<valueQuantity>
<value value="87" />
<unit value="day" />
<system value="http://unitsofmeasure.org" />
<code value="d" />
</valueQuantity>
</component>
<component>
<code>
<coding>
<system value="http://snomed.info/sct" />
<code value="161714006" />
<display value="Estimated date of delivery" />
</coding>
</code>
<valueDateTime value="2024-05-01" />
</component>
</Observation>
</resource>
<request>
<method value="POST" />
<url value="Observation" />
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:b32f8456-be57-4f67-ade3-97a3a6cbda0a" />
<resource>
<Observation>
<id value="b32f8456-be57-4f67-ade3-97a3a6cbda0a" />
<status value="preliminary" />
<code>
<coding>
<system value="http://snomed.info/sct" />
<code value="723621000000103" />
<display value="Ethnicity" />
</coding>
</code>
<subject>
<reference value="Patient/51008c44-551e-4272-a2a8-36f7d5363c9c" />
<identifier>
<system value="https://fhir.nhs.uk/Id/nhs-number" />
<value value="9449308322" />
</identifier>
</subject>
<valueString value="unknown" />
</Observation>
</resource>
<request>
<method value="POST" />
<url value="Observation" />
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:7c3a876d-3e62-42e1-8fcf-2c233eba8289" />
<resource>
<Observation>
<id value="7c3a876d-3e62-42e1-8fcf-2c233eba8289" />
<status value="final" />
<code>
<coding>
<system value="http://snomed.info/sct" />
<code value="416128008" />
<display value="No history of procedure" />
</coding>
</code>
<subject>
<reference value="Patient/51008c44-551e-4272-a2a8-36f7d5363c9c" />
<identifier>
<system value="https://fhir.nhs.uk/Id/nhs-number" />
<value value="9449308322" />
</identifier>
</subject>
<effectiveDateTime value="2023-09-25" />
<valueCodeableConcept>
<coding>
<system value="http://snomed.info/sct" />
<code value="263903005" />
<display value="Transplant" />
</coding>
</valueCodeableConcept>
</Observation>
</resource>
<request>
<method value="POST" />
<url value="Observation" />
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:41654044-afd4-4b5d-add5-16afc73f97a5" />
<resource>
<Observation>
<id value="41654044-afd4-4b5d-add5-16afc73f97a5" />
<status value="final" />
<code>
<coding>
<system value="http://snomed.info/sct" />
<code value="609520005" />
<display value="Disorder of fetal structure" />
</coding>
<text value="First Trimester Anomalies?" />
</code>
<subject>
<reference value="Patient/51008c44-551e-4272-a2a8-36f7d5363c9c" />
<identifier>
<system value="https://fhir.nhs.uk/Id/nhs-number" />
<value value="9449308322" />
</identifier>
</subject>
<effectiveDateTime value="2023-09-25" />
<valueBoolean value="false" />
<component>
<code>
<coding>
<system value="http://snomed.info/sct" />
<code value="255246003" />
<display value="First trimester" />
</coding>
</code>
</component>
</Observation>
</resource>
<request>
<method value="POST" />
<url value="Observation" />
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:4512e4e9-9b42-4464-b52f-81e5f7e380b0" />
<resource>
<Observation>
<id value="4512e4e9-9b42-4464-b52f-81e5f7e380b0" />
<status value="final" />
<code>
<coding>
<system value="http://snomed.info/sct" />
<code value="609520005" />
<display value="Disorder of fetal structure" />
</coding>
<text value="Second Trimester Anomalies?" />
</code>
<subject>
<reference value="Patient/51008c44-551e-4272-a2a8-36f7d5363c9c" />
<identifier>
<system value="https://fhir.nhs.uk/Id/nhs-number" />
<value value="9449308322" />
</identifier>
</subject>
<effectiveDateTime value="2023-09-25" />
<valueBoolean value="false" />
<component>
<code>
<coding>
<system value="http://snomed.info/sct" />
<code value="255247007" />
<display value="Second trimester" />
</coding>
</code>
</component>
</Observation>
</resource>
<request>
<method value="POST" />
<url value="Observation" />
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:1ee371f7-00c5-4787-a910-89dc42cbbf47" />
<resource>
<Procedure>
<id value="1ee371f7-00c5-4787-a910-89dc42cbbf47" />
<status value="completed" />
<code>
<coding>
<system value="http://snomed.info/sct" />
<code value="52637005" />
<display value="In vitro fertilisation" />
</coding>
</code>
<subject>
<reference value="Patient/51008c44-551e-4272-a2a8-36f7d5363c9c" />
<identifier>
<system value="https://fhir.nhs.uk/Id/nhs-number" />
<value value="9449308322" />
</identifier>
</subject>
<performedDateTime value="2023-09-25" />
<note>
<text value="Woman`s own egg" />
</note>
</Procedure>
</resource>
<request>
<method value="POST" />
<url value="Procedure" />
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:849705be-9ed3-499c-ab8a-5579dd02d305" />
<resource>
<Patient>
<id value="849705be-9ed3-499c-ab8a-5579dd02d305" />
<extension url="http://hl7.org/fhir/6.0/StructureDefinition/extension-Patient.fetalStatus">
<valueCode value="potential-for-live-birth" />
</extension>
<identifier>
<system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" />
<value value="Fetus-A-8955713713" />
<assigner>
<identifier>
<system value="https://fhir.nhs.uk/Id/ods-organization-code" />
<value value="RAX" />
</identifier>
</assigner>
</identifier>
<name>
<family value="MUM" />
<given value="FETUS A" />
</name>
<gender value="unknown" />
<multipleBirthBoolean value="true" />
</Patient>
</resource>
<request>
<method value="POST" />
<url value="Patient" />
<ifNoneExist value="Patient?identifier=urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24|Fetus-A-8955713713" />
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:6473db02-3c45-42f0-9b8c-9d063753f86b" />
<resource>
<RelatedPerson>
<id value="6473db02-3c45-42f0-9b8c-9d063753f86b" />
<identifier>
<system value="https://fhir.nhs.uk/Id/nhs-number" />
<value value="9449308322" />
</identifier>
<patient>
<reference value="Patient/849705be-9ed3-499c-ab8a-5579dd02d305" />
<identifier>
<system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" />
<value value="Fetus-A-8955713713" />
<assigner>
<identifier>
<system value="https://fhir.nhs.uk/Id/ods-organization-code" />
<value value="RAX" />
</identifier>
</assigner>
</identifier>
</patient>
<relationship>
<coding>
<system value="http://terminology.hl7.org/CodeSystem/v3-RoleCode" />
<code value="NMTHF" />
<display value="natural mother of fetus" />
</coding>
</relationship>
</RelatedPerson>
</resource>
<request>
<method value="POST" />
<url value="RelatedPerson" />
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:d302e6f8-c09f-4153-a669-8fa6b3a95d52" />
<resource>
<ServiceRequest>
<id value="d302e6f8-c09f-4153-a669-8fa6b3a95d52" />
<extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage">
<valueCodeableConcept>
<coding>
<system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" />
<code value="nhs-england" />
<display value="NHS England" />
</coding>
</valueCodeableConcept>
</extension>
<requisition>
<system value="https://fhir.kingston-hospital-nhs-foundation-trust.nhs.uk/Id/grouptestId" />
<value value="RR8F1792-TWIN" />
<assigner>
<identifier>
<system value="https://fhir.nhs.uk/Id/ods-organization-code" />
<value value="RAX" />
</identifier>
</assigner>
</requisition>
<status value="active" />
<intent value="order" />
<category>
<coding>
<system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" />
<code value="rare-disease-non-wgs" />
<display value="Rare Disease - Non-WGS" />
</coding>
</category>
<priority value="urgent" />
<code>
<coding>
<system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" />
<version value="7" />
<code value="R21.1" />
<display value="Fetal anomalies with a likely genetic cause" />
</coding>
</code>
<subject>
<reference value="Patient/849705be-9ed3-499c-ab8a-5579dd02d305" />
</subject>
<authoredOn value="2023-09-25" />
<requester>
<reference value="PractitionerRole/01f81774-4153-4c18-a7df-1c4cdbba4f2f" />
</requester>
<performer>
<identifier>
<system value="https://fhir.nhs.uk/Id/ods-organization-code" />
<value value="699N0" />
</identifier>
</performer>
<reasonCode>
<coding>
<system value="https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics" />
<code value="staging-or-prognosis" />
<display value="Staging or Prognosis" />
</coding>
</reasonCode>
<supportingInfo>
<reference value="Observation/2f4ef82c-3125-4ebf-8d5e-e19b86ea47c6" />
</supportingInfo>
<supportingInfo>
<reference value="Observation/2a6e7070-5ea2-4ef3-96b6-607b474fcc0b" />
</supportingInfo>
<supportingInfo>
<reference value="Observation/b32f8456-be57-4f67-ade3-97a3a6cbda0a" />
</supportingInfo>
<supportingInfo>
<reference value="Observation/9080a716-c023-46c1-b479-b669074f4b3e" />
</supportingInfo>
<supportingInfo>
<reference value="Observation/7c3a876d-3e62-42e1-8fcf-2c233eba8289" />
</supportingInfo>
<supportingInfo>
<reference value="Observation/41654044-afd4-4b5d-add5-16afc73f97a5" />
</supportingInfo>
<supportingInfo>
<reference value="Observation/4512e4e9-9b42-4464-b52f-81e5f7e380b0" />
</supportingInfo>
<supportingInfo>
<reference value="Procedure/1ee371f7-00c5-4787-a910-89dc42cbbf47" />
</supportingInfo>
<supportingInfo>
<reference value="RelatedPerson/6473db02-3c45-42f0-9b8c-9d063753f86b" />
</supportingInfo>
<supportingInfo>
<reference value="Patient/51008c44-551e-4272-a2a8-36f7d5363c9c" />
</supportingInfo>
<supportingInfo>
<reference value="Specimen/9fa291ba-d9a4-46a9-87e5-486bcaae47fa" />
</supportingInfo>
<note>
<text value="Samples are to be provided at a later date" />
</note>
<note>
<text value="No family history of relevant testing" />
</note>
<note>
<text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder" />
</note>
</ServiceRequest>
</resource>
<request>
<method value="POST" />
<url value="ServiceRequest" />
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:2a6e7070-5ea2-4ef3-96b6-607b474fcc0b" />
<resource>
<Observation>
<id value="2a6e7070-5ea2-4ef3-96b6-607b474fcc0b" />
<status value="final" />
<code>
<coding>
<system value="http://snomed.info/sct" />
<code value="160475008" />
<display value="Family history of consanguinity" />
</coding>
</code>
<subject>
<reference value="Patient/849705be-9ed3-499c-ab8a-5579dd02d305" />
</subject>
<effectiveDateTime value="2023-09-25" />
<valueBoolean value="false" />
</Observation>
</resource>
<request>
<method value="POST" />
<url value="Observation" />
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:9fa291ba-d9a4-46a9-87e5-486bcaae47fa" />
<resource>
<Specimen>
<id value="9fa291ba-d9a4-46a9-87e5-486bcaae47fa" />
<identifier>
<system value="https://fhir.add.nhs.uk/Id/specimenId" />
<value value="RGT70280930" />
</identifier>
<status value="unavailable" />
<type>
<coding>
<system value="http://snomed.info/sct" />
<code value="258565009" />
<display value="Chorionic villi specimen" />
</coding>
</type>
<subject>
<reference value="Patient/849705be-9ed3-499c-ab8a-5579dd02d305" />
</subject>
<request>
<reference value="ServiceRequest/d302e6f8-c09f-4153-a669-8fa6b3a95d52" />
</request>
</Specimen>
</resource>
<request>
<method value="POST" />
<url value="Specimen" />
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:a3e24d16-9079-4b07-b406-5c28f05bea8c" />
<resource>
<Patient>
<id value="a3e24d16-9079-4b07-b406-5c28f05bea8c" />
<extension url="http://hl7.org/fhir/6.0/StructureDefinition/extension-Patient.fetalStatus">
<valueCode value="potential-for-live-birth" />
</extension>
<identifier>
<system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" />
<value value="Fetus-B-7855713723" />
<assigner>
<identifier>
<system value="https://fhir.nhs.uk/Id/ods-organization-code" />
<value value="RAX" />
</identifier>
</assigner>
</identifier>
<name>
<family value="MUM" />
<given value="FETUS B" />
</name>
<gender value="unknown" />
<multipleBirthBoolean value="true" />
</Patient>
</resource>
<request>
<method value="POST" />
<url value="Patient" />
<ifNoneExist value="Patient?identifier=urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24|Fetus-B-7855713723" />
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:86c36eee-13fe-4e50-b62e-afbdb11c4325" />
<resource>
<RelatedPerson>
<id value="86c36eee-13fe-4e50-b62e-afbdb11c4325" />
<identifier>
<system value="https://fhir.nhs.uk/Id/nhs-number" />
<value value="9449308322" />
</identifier>
<patient>
<reference value="Patient/a3e24d16-9079-4b07-b406-5c28f05bea8c" />
<identifier>
<system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" />
<value value="Fetus-B-7855713723" />
<assigner>
<identifier>
<system value="https://fhir.nhs.uk/Id/ods-organization-code" />
<value value="RAX" />
</identifier>
</assigner>
</identifier>
</patient>
<relationship>
<coding>
<system value="http://terminology.hl7.org/CodeSystem/v3-RoleCode" />
<code value="NMTHF" />
<display value="natural mother of fetus" />
</coding>
</relationship>
</RelatedPerson>
</resource>
<request>
<method value="POST" />
<url value="RelatedPerson" />
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:1b5e2983-3573-4e1a-b5b9-ad646f0f2679" />
<resource>
<ServiceRequest>
<id value="1b5e2983-3573-4e1a-b5b9-ad646f0f2679" />
<extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage">
<valueCodeableConcept>
<coding>
<system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" />
<code value="nhs-england" />
<display value="NHS England" />
</coding>
</valueCodeableConcept>
</extension>
<requisition>
<system value="https://fhir.kingston-hospital-nhs-foundation-trust.nhs.uk/Id/grouptestId" />
<value value="RR8F1792-TWIN" />
<assigner>
<identifier>
<system value="https://fhir.nhs.uk/Id/ods-organization-code" />
<value value="RAX" />
</identifier>
</assigner>
</requisition>
<status value="active" />
<intent value="order" />
<category>
<coding>
<system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" />
<code value="rare-disease-non-wgs" />
<display value="Rare Disease - Non-WGS" />
</coding>
</category>
<priority value="urgent" />
<code>
<coding>
<system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" />
<version value="7" />
<code value="R21.1" />
<display value="Fetal anomalies with a likely genetic cause" />
</coding>
</code>
<subject>
<reference value="Patient/a3e24d16-9079-4b07-b406-5c28f05bea8c" />
</subject>
<authoredOn value="2023-09-25" />
<requester>
<reference value="PractitionerRole/01f81774-4153-4c18-a7df-1c4cdbba4f2f" />
</requester>
<performer>
<identifier>
<system value="https://fhir.nhs.uk/Id/ods-organization-code" />
<value value="699N0" />
</identifier>
</performer>
<reasonCode>
<coding>
<system value="https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics" />
<code value="staging-or-prognosis" />
<display value="Staging or Prognosis" />
</coding>
</reasonCode>
<supportingInfo>
<reference value="Observation/2f4ef82c-3125-4ebf-8d5e-e19b86ea47c6" />
</supportingInfo>
<supportingInfo>
<reference value="Observation/6a05db05-0156-46dd-8c63-f91c565950ce" />
</supportingInfo>
<supportingInfo>
<reference value="Observation/b32f8456-be57-4f67-ade3-97a3a6cbda0a" />
</supportingInfo>
<supportingInfo>
<reference value="Observation/9080a716-c023-46c1-b479-b669074f4b3e" />
</supportingInfo>
<supportingInfo>
<reference value="Observation/7c3a876d-3e62-42e1-8fcf-2c233eba8289" />
</supportingInfo>
<supportingInfo>
<reference value="Observation/41654044-afd4-4b5d-add5-16afc73f97a5" />
</supportingInfo>
<supportingInfo>
<reference value="Observation/4512e4e9-9b42-4464-b52f-81e5f7e380b0" />
</supportingInfo>
<supportingInfo>
<reference value="Procedure/1ee371f7-00c5-4787-a910-89dc42cbbf47" />
</supportingInfo>
<supportingInfo>
<reference value="RelatedPerson/86c36eee-13fe-4e50-b62e-afbdb11c4325" />
</supportingInfo>
<supportingInfo>
<reference value="Patient/51008c44-551e-4272-a2a8-36f7d5363c9c" />
</supportingInfo>
<supportingInfo>
<reference value="Specimen/8cf0addd-2f93-4c3e-b762-31682d0552c8" />
</supportingInfo>
<note>
<text value="Samples are to be provided at a later date" />
</note>
<note>
<text value="No family history of relevant testing" />
</note>
<note>
<text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder" />
</note>
</ServiceRequest>
</resource>
<request>
<method value="POST" />
<url value="ServiceRequest" />
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:6a05db05-0156-46dd-8c63-f91c565950ce" />
<resource>
<Observation>
<id value="6a05db05-0156-46dd-8c63-f91c565950ce" />
<status value="final" />
<code>
<coding>
<system value="http://snomed.info/sct" />
<code value="160475008" />
<display value="Family history of consanguinity" />
</coding>
</code>
<subject>
<reference value="Patient/a3e24d16-9079-4b07-b406-5c28f05bea8c" />
</subject>
<effectiveDateTime value="2023-09-25" />
<valueBoolean value="false" />
</Observation>
</resource>
<request>
<method value="POST" />
<url value="Observation" />
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:8cf0addd-2f93-4c3e-b762-31682d0552c8" />
<resource>
<Specimen>
<id value="8cf0addd-2f93-4c3e-b762-31682d0552c8" />
<identifier>
<system value="https://fhir.add.nhs.uk/Id/specimenId" />
<value value="RGT70230498" />
</identifier>
<status value="unavailable" />
<type>
<coding>
<system value="http://snomed.info/sct" />
<code value="258565009" />
<display value="Chorionic villi specimen" />
</coding>
</type>
<subject>
<reference value="Patient/a3e24d16-9079-4b07-b406-5c28f05bea8c" />
</subject>
<request>
<reference value="ServiceRequest/1b5e2983-3573-4e1a-b5b9-ad646f0f2679" />
</request>
</Specimen>
</resource>
<request>
<method value="POST" />
<url value="Specimen" />
</request>
</entry>
</Bundle>