NHS North West Genomics
2.2.0 - ci-build
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
<Bundle xmlns="http://hl7.org/fhir">
<id value="NonWGSScenario4-ProbandWithMultipleFetus-Example-FetusA"/>
<meta>
<profile
value="https://fhir.nwgenomics.nhs.uk/StructureDefinition/BundleMessage"/>
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<language value="en"/>
<identifier>
<system value="https://tools.ietf.org/html/rfc4122"/>
<value value="8dbcc6e7-a207-418a-8f33-3c819ac1aadb"/>
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<type value="message"/>
<timestamp value="2026-06-15T09:00:00Z"/>
<entry>
<fullUrl value="urn:uuid:4f23e43a-0c5a-491e-8c06-b3ec7413da0c"/>
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<id value="4f23e43a-0c5a-491e-8c06-b3ec7413da0c"/>
<language value="en"/>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><a name="MessageHeader_4f23e43a-0c5a-491e-8c06-b3ec7413da0c"> </a><p class="res-header-id"><b>Generated Narrative: MessageHeader 4f23e43a-0c5a-491e-8c06-b3ec7413da0c</b></p><a name="4f23e43a-0c5a-491e-8c06-b3ec7413da0c"> </a><a name="hc4f23e43a-0c5a-491e-8c06-b3ec7413da0c"> </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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<code value="O21"/>
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<name value="National Genomic Medicine Service"/>
<endpoint value="https://api.service.nhs.uk/GMS"/>
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<identifier>
<system value="https://fhir.nhs.uk/Id/ods-organization-code"/>
<value value="699X0"/>
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<display
value="NORTH WEST GLH LED BY MANCHESTER UNIVERSITY NHS FOUNDATION TRUST"/>
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<sender>
<identifier>
<system value="https://fhir.nhs.uk/Id/ods-organization-code"/>
<value value="RAX01"/>
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<display value="Kingston Hospital"/>
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<source>
<endpoint value="https://example.org/fhir/SendingSystem"/>
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<focus>
<reference value="urn:uuid:d302e6f8-c09f-4153-a669-8fa6b3a95d52"/>
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<entry>
<fullUrl value="urn:uuid:849705be-9ed3-499c-ab8a-5579dd02d305"/>
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<Patient>
<id value="849705be-9ed3-499c-ab8a-5579dd02d305"/>
<language value="en"/>
<text>
<status value="generated"/>
<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="Known multipleBirth status of Patient">Multiple Birth:</td><td colspan="3">true</td></tr><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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<value value="Fetus-A-8955713713"/>
<assigner>
<identifier>
<system value="https://fhir.nhs.uk/Id/ods-organization-code"/>
<value value="RAX"/>
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<name>
<family value="MUM"/>
<given value="FETUS A"/>
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<gender value="unknown"/>
<multipleBirthBoolean value="true"/>
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<entry>
<fullUrl value="urn:uuid:d302e6f8-c09f-4153-a669-8fa6b3a95d52"/>
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<ServiceRequest>
<id value="d302e6f8-c09f-4153-a669-8fa6b3a95d52"/>
<language value="en"/>
<text>
<status value="extensions"/>
<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.kingston-hospital-nhs-foundation-trust.nhs.uk/Id/grouptestId</code>/RR8F20262701-01</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
Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder
TO BE RESOLVED VIA PDS TO BE RESOLVED VIA PDS (Mother):</p>
<ul>
<li>No family history of relevant testing</li>
<li>Is the testing for a fetal loss from 24+0 or more weeks of gestation?: Negative</li>
<li>Ethnicity: unknown</li>
<li>Pregnancy: Assisted conception; Gestational age 87 day; Estimated date of delivery 2024-05-01</li>
<li>No history of procedure: Transplant</li>
<li>First Trimester Anomalies?: Negative; First trimester</li>
<li>Second Trimester Anomalies?: Negative; Second trimester</li>
<li>In vitro fertilisation (Woman`s own egg)</li>
</ul>
</div></blockquote></div>
</text>
<extension
url="https://fhir.nhs.uk/England/StructureDefinition/Extension-Genomic-Patient-Role">
<valueCodeableConcept>
<coding>
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<code value="proband"/>
<display value="Proband"/>
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<extension
url="https://fhir.nhs.uk/England/StructureDefinition/Extension-GenomicTest-ParticipantCount">
<valueInteger value="2"/>
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<extension
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<valueCodeableConcept>
<coding>
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<code value="nhs-england"/>
<display value="NHS England"/>
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<requisition>
<system
value="https://fhir.kingston-hospital-nhs-foundation-trust.nhs.uk/Id/grouptestId"/>
<value value="RR8F20262701-01"/>
<assigner>
<identifier>
<system value="https://fhir.nhs.uk/Id/ods-organization-code"/>
<value value="RAX"/>
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<status value="active"/>
<intent value="order"/>
<category>
<coding>
<system
value="https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics"/>
<code value="prenatal-diagnosis"/>
<display value="Prenatal diagnosis"/>
</coding>
</category>
<priority value="urgent"/>
<code>
<coding>
<extension
url="https://fhir.nhs.uk/England/StructureDefinition/Extension-GenomicTestCode-Version">
<valueDecimal value="1.0"/>
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<system
value="https://fhir.nhs.uk/CodeSystem/England-DigitalGenomicTestServices"/>
<code value="GT1133"/>
<display value="Common aneuploidy testing"/>
</coding>
</code>
<subject>
<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>
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<authoredOn value="2023-09-25"/>
<requester>
<reference
value="PractitionerRole/01f81774-4153-4c18-a7df-1c4cdbba4f2f"/>
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<performer>
<identifier>
<system value="https://fhir.nhs.uk/Id/ods-organization-code"/>
<value value="699N0"/>
</identifier>
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<reasonCode>
<coding>
<extension
url="https://fhir.nhs.uk/England/StructureDefinition/Extension-GenomicTestCode-Version">
<valueDecimal value="1.0"/>
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<system
value="https://fhir.nhs.uk/CodeSystem/England-DigitalGenomicTestServices"/>
<code value="TP289"/>
<display value="Common aneuploidy testing - prenatal"/>
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<supportingInfo>
<reference
value="Observation/2a6e7070-5ea2-4ef3-96b6-607b474fcc0b"/>
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<specimen>
<reference value="Specimen/9fa291ba-d9a4-46a9-87e5-486bcaae47fa"/>
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<note>
<text
value="Samples are to be provided at a later date
Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder
TO BE RESOLVED VIA PDS TO BE RESOLVED VIA PDS (Mother):
- No family history of relevant testing
- Is the testing for a fetal loss from 24+0 or more weeks of gestation?: Negative
- Ethnicity: unknown
- Pregnancy: Assisted conception; Gestational age 87 day; Estimated date of delivery 2024-05-01
- No history of procedure: Transplant
- First Trimester Anomalies?: Negative; First trimester
- Second Trimester Anomalies?: Negative; Second trimester
- In vitro fertilisation (Woman`s own egg)"/>
</note>
</ServiceRequest>
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<entry>
<fullUrl value="urn:uuid:01f81774-4153-4c18-a7df-1c4cdbba4f2f"/>
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<PractitionerRole>
<id value="01f81774-4153-4c18-a7df-1c4cdbba4f2f"/>
<language value="en"/>
<text>
<status value="generated"/>
<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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<identifier>
<system value="https://fhir.nhs.uk/Id/sds-user-id"/>
<value value="3208835210"/>
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<display value="Dr. Lois Lane"/>
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<organization>
<identifier>
<system value="https://fhir.nhs.uk/Id/ods-organization-code"/>
<value value="RAX01"/>
</identifier>
<display value="Kingston Hospital"/>
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<specialty>
<coding>
<system
value="https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode"/>
<code value="311"/>
<display value="Clinical Genetics"/>
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<telecom>
<system value="phone"/>
<value value="02085467711"/>
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<telecom>
<system value="email"/>
<value value="Hazel.smith12@nhs.net"/>
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<valueString value="reporting"/>
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<system value="email"/>
<value value="clinicalgeneticskingston@nhs.net"/>
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<telecom>
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<valueString value="reporting"/>
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<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>
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<entry>
<fullUrl value="urn:uuid:9fa291ba-d9a4-46a9-87e5-486bcaae47fa"/>
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<Specimen>
<id value="9fa291ba-d9a4-46a9-87e5-486bcaae47fa"/>
<language value="en"/>
<text>
<status value="generated"/>
<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>
</text>
<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"/>
<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>
</subject>
<request>
<reference
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<entry>
<fullUrl value="urn:uuid:2a6e7070-5ea2-4ef3-96b6-607b474fcc0b"/>
<resource>
<Observation>
<id value="2a6e7070-5ea2-4ef3-96b6-607b474fcc0b"/>
<language value="en"/>
<text>
<status value="generated"/>
<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>
</text>
<status value="final"/>
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<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"/>
<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>
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<effectiveDateTime value="2023-09-25"/>
<valueCodeableConcept>
<coding>
<system value="http://snomed.info/sct"/>
<code value="260385009"/>
<display value="Negative"/>
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<entry>
<fullUrl value="urn:uuid:6473db02-3c45-42f0-9b8c-9d063753f86b"/>
<resource>
<RelatedPerson>
<id value="6473db02-3c45-42f0-9b8c-9d063753f86b"/>
<language value="en"/>
<text>
<status value="generated"/>
<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>
</text>
<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>
<name>
<family value="TO BE RESOLVED VIA PDS"/>
<given value="TO BE RESOLVED VIA PDS"/>
</name>
<gender value="unknown"/>
</RelatedPerson>
</resource>
</entry>
</Bundle>