NHS North West Genomics
2.2.0 - ci-build
NHS North West Genomics - Local Development build (v2.2.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
{
"resourceType" : "Bundle",
"id" : "NonWGSScenario3-FetusAsProband-Example-FetusA",
"meta" : {
"profile" : [
🔗 "https://fhir.nwgenomics.nhs.uk/StructureDefinition/BundleMessage"
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"language" : "en",
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"system" : "https://tools.ietf.org/html/rfc4122",
"value" : "38cd0cd0-3a64-4181-a7b9-3f0568315f23"
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"timestamp" : "2026-06-15T09:00:00Z",
"entry" : [
{
"fullUrl" : "urn:uuid:4a73bd70-33f0-4b81-930a-e815658fee0f",
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"resourceType" : "MessageHeader",
"id" : "4a73bd70-33f0-4b81-930a-e815658fee0f",
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"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"MessageHeader_4a73bd70-33f0-4b81-930a-e815658fee0f\"> </a><p class=\"res-header-id\"><b>Generated Narrative: MessageHeader 4a73bd70-33f0-4b81-930a-e815658fee0f</b></p><a name=\"4a73bd70-33f0-4b81-930a-e815658fee0f\"> </a><a name=\"hc4a73bd70-33f0-4b81-930a-e815658fee0f\"> </a><p><b>event</b>: <a href=\"http://terminology.hl7.org/7.3.0/CodeSystem-v2-0003.html#v2-0003-O21\">event: O21</a> (OML - Laboratory order)</p><h3>Destinations</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Name</b></td><td><b>Endpoint</b></td><td><b>Receiver</b></td></tr><tr><td style=\"display: none\">*</td><td>National Genomic Medicine Service</td><td><a href=\"https://simplifier.net/resolve?scope=fhir.r4.ukcore.stu3.currentbuild@0.29.0-pre-release&canonical=https://api.service.nhs.uk/GMS\">https://api.service.nhs.uk/GMS</a></td><td>NORTH WEST GLH LED BY MANCHESTER UNIVERSITY NHS FOUNDATION TRUST (Identifier: <a href=\"NamingSystem-ods-organization-code-namingsystem.html\" title=\"The identifier system for an Organisation registered with the Organisation Data Service (ODS).\">ODS Organisation Code</a>/699X0)</td></tr></table><p><b>sender</b>: Kingston Hospital (Identifier: <a href=\"NamingSystem-ods-organization-code-namingsystem.html\" title=\"The identifier system for an Organisation registered with the Organisation Data Service (ODS).\">ODS Organisation Code</a>/RAX01)</p><h3>Sources</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Endpoint</b></td></tr><tr><td style=\"display: none\">*</td><td><a href=\"https://simplifier.net/resolve?scope=fhir.r4.ukcore.stu3.currentbuild@0.29.0-pre-release&canonical=https://example.org/fhir/SendingSystem\">https://example.org/fhir/SendingSystem</a></td></tr></table><p><b>focus</b>: <a href=\"Bundle-NonWGSScenario3-FetusAsProband-Example-FetusA.html#urn-uuid-d302e6f8-c09f-4153-a669-8fa6b3a95d52\">ServiceRequest Common aneuploidy testing</a></p></div>"
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"eventCoding" : {
"system" : "http://terminology.hl7.org/CodeSystem/v2-0003",
"code" : "O21"
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"destination" : [
{
"name" : "National Genomic Medicine Service",
"endpoint" : "https://api.service.nhs.uk/GMS",
"receiver" : {
"identifier" : {
"system" : "https://fhir.nhs.uk/Id/ods-organization-code",
"value" : "699X0"
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"display" : "NORTH WEST GLH LED BY MANCHESTER UNIVERSITY NHS FOUNDATION TRUST"
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"display" : "Kingston Hospital"
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"source" : {
"endpoint" : "https://example.org/fhir/SendingSystem"
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"focus" : [
{
"reference" : "urn:uuid:d302e6f8-c09f-4153-a669-8fa6b3a95d52"
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},
{
"fullUrl" : "urn:uuid:849705be-9ed3-499c-ab8a-5579dd02d305",
"resource" : {
"resourceType" : "Patient",
"id" : "849705be-9ed3-499c-ab8a-5579dd02d305",
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Patient_849705be-9ed3-499c-ab8a-5579dd02d305\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Patient 849705be-9ed3-499c-ab8a-5579dd02d305</b></p><a name=\"849705be-9ed3-499c-ab8a-5579dd02d305\"> </a><a name=\"hc849705be-9ed3-499c-ab8a-5579dd02d305\"> </a><p style=\"border: 1px #661aff solid; background-color: #e6e6ff; padding: 10px;\">FETUS A MUM Unknown, DoB Unknown ( urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24#Fetus-A-8955713713)</p><hr/><table class=\"grid\"><tr><td style=\"background-color: #f3f5da\" title=\"An extension to replicate the changes within R5 to record the born status of fetus (Patient)\"><a href=\"https://simplifier.net/resolve?scope=fhir.r4.ukcore.stu3.currentbuild@0.29.0-pre-release&canonical=http://hl7.org/fhir/6.0/StructureDefinition/extension-Patient.fetalStatus\">Extension UK Core Patient Fetal Status</a></td><td colspan=\"3\">potential-for-live-birth</td></tr></table></div>"
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{
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"identifier" : [
{
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"assigner" : {
"identifier" : {
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"name" : [
{
"family" : "MUM",
"given" : [
"FETUS A"
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],
"gender" : "unknown"
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{
"fullUrl" : "urn:uuid:d302e6f8-c09f-4153-a669-8fa6b3a95d52",
"resource" : {
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"id" : "d302e6f8-c09f-4153-a669-8fa6b3a95d52",
"language" : "en",
"text" : {
"status" : "extensions",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"ServiceRequest_d302e6f8-c09f-4153-a669-8fa6b3a95d52\"> </a><p class=\"res-header-id\"><b>Generated Narrative: ServiceRequest d302e6f8-c09f-4153-a669-8fa6b3a95d52</b></p><a name=\"d302e6f8-c09f-4153-a669-8fa6b3a95d52\"> </a><a name=\"hcd302e6f8-c09f-4153-a669-8fa6b3a95d52\"> </a><p><b>uk/England/StructureDefinition/Extension-Genomic-Patient-Role</b>: <span title=\"Codes:{https://fhir.nhs.uk/CodeSystem/patient-role-genomics proband}\">Proband</span></p><p><b>uk/England/StructureDefinition/Extension-GenomicTest-ParticipantCount</b>: 2</p><p><b>Extension UK Core Coverage</b>: <span title=\"Codes:{https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory nhs-england}\">NHS England</span></p><p><b>requisition</b>: <code>https://fhir.leedssth.nhs.uk//Id/grouptestId</code>/RR-REQ20262701</p><p><b>status</b>: Active</p><p><b>intent</b>: Order</p><p><b>category</b>: <span title=\"Codes:{https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics prenatal-diagnosis}\">Prenatal diagnosis</span></p><p><b>priority</b>: Urgent</p><p><b>code</b>: <span title=\"Codes:{https://fhir.nhs.uk/CodeSystem/England-DigitalGenomicTestServices GT1133}\">Common aneuploidy testing</span></p><p><b>subject</b>: <a href=\"Bundle-NonWGSScenario3-FetusAsProband-Example-FetusA.html#Patient_849705be-9ed3-499c-ab8a-5579dd02d305\">FETUS A MUM Unknown, DoB Unknown ( urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24#Fetus-A-8955713713)</a></p><p><b>authoredOn</b>: 2023-09-25</p><p><b>requester</b>: <a href=\"Bundle-NonWGSScenario3-FetusAsProband-Example-FetusA.html#PractitionerRole_01f81774-4153-4c18-a7df-1c4cdbba4f2f\">PractitionerRole: specialty = Clinical Genetics; telecom = ph: 02085467711,Hazel.smith12@nhs.net,clinicalgeneticskingston@nhs.net,fetalmedicinekingston@nhs.net,gptestpracticekingston@nhs.net</a></p><p><b>performer</b>: Identifier: <a href=\"NamingSystem-ods-organization-code-namingsystem.html\" title=\"The identifier system for an Organisation registered with the Organisation Data Service (ODS).\">ODS Organisation Code</a>/699N0</p><p><b>reasonCode</b>: <span title=\"Codes:{https://fhir.nhs.uk/CodeSystem/England-DigitalGenomicTestServices TP289}\">Common aneuploidy testing - prenatal</span></p><p><b>supportingInfo</b>: <a href=\"Bundle-NonWGSScenario3-FetusAsProband-Example-FetusA.html#Observation_2a6e7070-5ea2-4ef3-96b6-607b474fcc0b\">Observation Family history of consanguinity</a></p><p><b>specimen</b>: <a href=\"Bundle-NonWGSScenario3-FetusAsProband-Example-FetusA.html#Specimen_9fa291ba-d9a4-46a9-87e5-486bcaae47fa\">Specimen: identifier = https://fhir.add.nhs.uk/Id/specimenId#RGT70280930; status = unavailable; type = Chorionic villi specimen</a></p><p><b>note</b>: </p><blockquote><div><p>Samples are to be provided at a later date\nFree text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder\nTO BE RESOLVED VIA PDS TO BE RESOLVED VIA PDS (Mother):</p>\n<ul>\n<li>No family history of relevant testing</li>\n<li>Is the testing for a fetal loss from 24+0 or more weeks of gestation?: Negative</li>\n<li>Ethnicity: unknown</li>\n<li>Pregnancy: Assisted conception; Gestational age 87 day; Estimated date of delivery 2024-05-01</li>\n<li>No history of procedure: Transplant</li>\n<li>First Trimester Anomalies?: Negative; First trimester</li>\n<li>In vitro fertilisation (Woman`s own egg)</li>\n</ul>\n</div></blockquote></div>"
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"display" : "Proband"
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{
"url" : "https://fhir.nhs.uk/England/StructureDefinition/Extension-GenomicTest-ParticipantCount",
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{
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{
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"requisition" : {
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"assigner" : {
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"value" : "RR8"
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"intent" : "order",
"category" : [
{
"coding" : [
{
"system" : "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics",
"code" : "prenatal-diagnosis",
"display" : "Prenatal diagnosis"
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]
}
],
"priority" : "urgent",
"code" : {
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{
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{
"url" : "https://fhir.nhs.uk/England/StructureDefinition/Extension-GenomicTestCode-Version",
"valueDecimal" : 1.0
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],
"system" : "https://fhir.nhs.uk/CodeSystem/England-DigitalGenomicTestServices",
"code" : "GT1133",
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"authoredOn" : "2023-09-25",
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"performer" : [
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"identifier" : {
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"value" : "699N0"
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"reasonCode" : [
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"url" : "https://fhir.nhs.uk/England/StructureDefinition/Extension-GenomicTestCode-Version",
"valueDecimal" : 1.0
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"system" : "https://fhir.nhs.uk/CodeSystem/England-DigitalGenomicTestServices",
"code" : "TP289",
"display" : "Common aneuploidy testing - prenatal"
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]
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],
"supportingInfo" : [
{
"reference" : "Observation/2a6e7070-5ea2-4ef3-96b6-607b474fcc0b"
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"specimen" : [
{
"reference" : "Specimen/9fa291ba-d9a4-46a9-87e5-486bcaae47fa"
}
],
"note" : [
{
"text" : "Samples are to be provided at a later date\nFree text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder\nTO BE RESOLVED VIA PDS TO BE RESOLVED VIA PDS (Mother):\n - No family history of relevant testing\n - Is the testing for a fetal loss from 24+0 or more weeks of gestation?: Negative\n - Ethnicity: unknown\n - Pregnancy: Assisted conception; Gestational age 87 day; Estimated date of delivery 2024-05-01\n - No history of procedure: Transplant\n - First Trimester Anomalies?: Negative; First trimester\n - In vitro fertilisation (Woman`s own egg)"
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]
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},
{
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"id" : "01f81774-4153-4c18-a7df-1c4cdbba4f2f",
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"PractitionerRole_01f81774-4153-4c18-a7df-1c4cdbba4f2f\"> </a><p class=\"res-header-id\"><b>Generated Narrative: PractitionerRole 01f81774-4153-4c18-a7df-1c4cdbba4f2f</b></p><a name=\"01f81774-4153-4c18-a7df-1c4cdbba4f2f\"> </a><a name=\"hc01f81774-4153-4c18-a7df-1c4cdbba4f2f\"> </a><p><b>practitioner</b>: Dr. Lois Lane (Identifier: <code>https://fhir.nhs.uk/Id/sds-user-id</code>/3208835210)</p><p><b>organization</b>: Kingston Hospital (Identifier: <a href=\"NamingSystem-ods-organization-code-namingsystem.html\" title=\"The identifier system for an Organisation registered with the Organisation Data Service (ODS).\">ODS Organisation Code</a>/RAX01)</p><p><b>specialty</b>: <span title=\"Codes:{https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode 311}\">Clinical Genetics</span></p><p><b>telecom</b>: ph: 02085467711, <a href=\"mailto:Hazel.smith12@nhs.net\">Hazel.smith12@nhs.net</a>, <a href=\"mailto:clinicalgeneticskingston@nhs.net\">clinicalgeneticskingston@nhs.net</a>, <a href=\"mailto:fetalmedicinekingston@nhs.net\">fetalmedicinekingston@nhs.net</a>, <a href=\"mailto:gptestpracticekingston@nhs.net\">gptestpracticekingston@nhs.net</a></p></div>"
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"display" : "Dr. Lois Lane"
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"organization" : {
"identifier" : {
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"value" : "RAX01"
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"display" : "Kingston Hospital"
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"specialty" : [
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"coding" : [
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{
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"system" : "email",
"value" : "clinicalgeneticskingston@nhs.net"
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"url" : "http://hl7.org/fhir/StructureDefinition/contactpoint-comment",
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"system" : "email",
"value" : "fetalmedicinekingston@nhs.net"
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/contactpoint-comment",
"valueString" : "reporting"
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"system" : "email",
"value" : "gptestpracticekingston@nhs.net"
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},
{
"fullUrl" : "urn:uuid:9fa291ba-d9a4-46a9-87e5-486bcaae47fa",
"resource" : {
"resourceType" : "Specimen",
"id" : "9fa291ba-d9a4-46a9-87e5-486bcaae47fa",
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Specimen_9fa291ba-d9a4-46a9-87e5-486bcaae47fa\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Specimen 9fa291ba-d9a4-46a9-87e5-486bcaae47fa</b></p><a name=\"9fa291ba-d9a4-46a9-87e5-486bcaae47fa\"> </a><a name=\"hc9fa291ba-d9a4-46a9-87e5-486bcaae47fa\"> </a><p><b>identifier</b>: <code>https://fhir.add.nhs.uk/Id/specimenId</code>/RGT70280930</p><p><b>status</b>: Unavailable</p><p><b>type</b>: <span title=\"Codes:{http://snomed.info/sct 258565009}\">Chorionic villi specimen</span></p><p><b>subject</b>: <a href=\"Bundle-NonWGSScenario3-FetusAsProband-Example-FetusA.html#Patient_849705be-9ed3-499c-ab8a-5579dd02d305\">FETUS A MUM Unknown, DoB Unknown ( urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24#Fetus-A-8955713713)</a></p><p><b>request</b>: <a href=\"Bundle-NonWGSScenario3-FetusAsProband-Example-FetusA.html#ServiceRequest_d302e6f8-c09f-4153-a669-8fa6b3a95d52\">ServiceRequest Common aneuploidy testing</a></p></div>"
},
"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"
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]
},
"subject" : {
"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"
}
}
}
},
"request" : [
{
"reference" : "ServiceRequest/d302e6f8-c09f-4153-a669-8fa6b3a95d52"
}
]
}
},
{
"fullUrl" : "urn:uuid:2a6e7070-5ea2-4ef3-96b6-607b474fcc0b",
"resource" : {
"resourceType" : "Observation",
"id" : "2a6e7070-5ea2-4ef3-96b6-607b474fcc0b",
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_2a6e7070-5ea2-4ef3-96b6-607b474fcc0b\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation 2a6e7070-5ea2-4ef3-96b6-607b474fcc0b</b></p><a name=\"2a6e7070-5ea2-4ef3-96b6-607b474fcc0b\"> </a><a name=\"hc2a6e7070-5ea2-4ef3-96b6-607b474fcc0b\"> </a><p><b>status</b>: Final</p><p><b>code</b>: <span title=\"Codes:{http://snomed.info/sct 160475008}\">Family history of consanguinity</span></p><p><b>subject</b>: <a href=\"Bundle-NonWGSScenario3-FetusAsProband-Example-FetusA.html#Patient_849705be-9ed3-499c-ab8a-5579dd02d305\">FETUS A MUM Unknown, DoB Unknown ( urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24#Fetus-A-8955713713)</a></p><p><b>effective</b>: 2023-09-25</p><p><b>value</b>: <span title=\"Codes:{http://snomed.info/sct 260385009}\">Negative</span></p></div>"
},
"status" : "final",
"code" : {
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "160475008",
"display" : "Family history of consanguinity"
}
]
},
"subject" : {
"reference" : "Patient/849705be-9ed3-499c-ab8a-5579dd02d305",
"identifier" : {
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"value" : "Fetus-A-8955713713",
"assigner" : {
"identifier" : {
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"value" : "RAX"
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"valueCodeableConcept" : {
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"display" : "Negative"
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},
{
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"resource" : {
"resourceType" : "RelatedPerson",
"id" : "6473db02-3c45-42f0-9b8c-9d063753f86b",
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"RelatedPerson_6473db02-3c45-42f0-9b8c-9d063753f86b\"> </a><p class=\"res-header-id\"><b>Generated Narrative: RelatedPerson 6473db02-3c45-42f0-9b8c-9d063753f86b</b></p><a name=\"6473db02-3c45-42f0-9b8c-9d063753f86b\"> </a><a name=\"hc6473db02-3c45-42f0-9b8c-9d063753f86b\"> </a><p><b>identifier</b>: <a href=\"NamingSystem-nhs-number-namingsystem.html\" title=\"NHS Number allocated to the patient in England and Wales. For more details see: [NHS Data Model Dictionary](https://www.datadictionary.nhs.uk/attributes/nhs_number.html)\">NHS Number</a>/9449308322</p><p><b>patient</b>: <a href=\"Bundle-NonWGSScenario3-FetusAsProband-Example-FetusA.html#Patient_849705be-9ed3-499c-ab8a-5579dd02d305\">FETUS A MUM Unknown, DoB Unknown ( urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24#Fetus-A-8955713713)</a></p><p><b>relationship</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v3-RoleCode NMTHF}\">natural mother of fetus</span></p><p><b>name</b>: TO BE RESOLVED VIA PDS TO BE RESOLVED VIA PDS </p><p><b>gender</b>: Unknown</p></div>"
},
"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" : "RAX01"
}
}
}
},
"relationship" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v3-RoleCode",
"code" : "NMTHF",
"display" : "natural mother of fetus"
}
]
}
],
"name" : [
{
"family" : "TO BE RESOLVED VIA PDS",
"given" : [
"TO BE RESOLVED VIA PDS"
]
}
],
"gender" : "unknown"
}
}
]
}