NHS North West Genomics
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: Composition - Genomics Report LynchSyndrome

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<Composition xmlns="http://hl7.org/fhir">
  <id value="Composition-GenomicsReport-LynchSyndrome"/>
  <meta>
    <profile
             value="https://fhir.nwgenomics.nhs.uk/StructureDefinition/Composition-GenomicReport"/>
  </meta>
  <language value="en"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: Composition Composition-GenomicsReport-LynchSyndrome</b></p><a name="Composition-GenomicsReport-LynchSyndrome"> </a><a name="hcComposition-GenomicsReport-LynchSyndrome"> </a><div style="display: inline-block; background-color: #fbffeb; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%"><p style="margin-bottom: 0px"/><p style="margin-bottom: 0px">Profile: <a href="StructureDefinition-Composition-GenomicReport.html">Composition Genomic Report</a></p></div><p><b>identifier</b>: <code>http://www.acme.org/diagnosticreport/identifiers</code>/98763a9b-98d4-4cfc-b760-1db086ec52a1</p><p><b>status</b>: Final</p><p><b>type</b>: <span title="Codes:{https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory R210.2}, {http://snomed.info/sct 1054161000000101}">Genetic report</span></p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span></p><p><b>encounter</b>: Identifier: <code>http://www.acme.org/encounter/identifiers/RBS</code>/66717</p><p><b>date</b>: 2024-10-13 10:33:00+0000</p><p><b>author</b>: 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>/R0A)</p><p><b>title</b>: Composition Genomics Report Lynch Syndrome</p></div>
  </text>
  <identifier>
    <system value="http://www.acme.org/diagnosticreport/identifiers"/>
    <value value="98763a9b-98d4-4cfc-b760-1db086ec52a1"/>
    <assigner>
      <identifier>
        <system value="https://fhir.nhs.uk/Id/ods-organization-code"/>
        <value value="699X0"/>
      </identifier>
    </assigner>
  </identifier>
  <status value="final"/>
  <type>
    <coding>
      <system
              value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory"/>
      <code value="R210.2"/>
    </coding>
    <coding>
      <system value="http://snomed.info/sct"/>
      <code value="1054161000000101"/>
      <display value="Genetic report"/>
    </coding>
  </type>
  <category>
    <coding>
      <system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
      <code value="GE"/>
      <display value="Genetics"/>
    </coding>
  </category>
  <subject>
    <reference value="urn:uuid:d6faafcf-db64-4c11-9da8-25f36774c1bd"/>
    <display value="Ned LIVERPOOL"/>
  </subject>
  <encounter>
    <identifier>
      <system value="http://www.acme.org/encounter/identifiers/RBS"/>
      <value value="66717"/>
      <assigner>
        <identifier>
          <system value="https://fhir.nhs.uk/Id/ods-organization-code"/>
          <value value="RBS"/>
        </identifier>
      </assigner>
    </identifier>
  </encounter>
  <date value="2024-10-13T10:33:00+00:00"/>
  <author>
    <identifier>
      <system value="https://fhir.nhs.uk/Id/ods-organization-code"/>
      <value value="R0A"/>
    </identifier>
    <display value="MANCHESTER UNIVERSITY NHS FOUNDATION TRUST"/>
  </author>
  <title value="Composition Genomics Report Lynch Syndrome"/>
  <section>
    <title value="Referral"/>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="42349-1"/>
        <display value="Reason for referral (narrative)"/>
      </coding>
    </code>
    <text>
      <status value="generated"/>
      <div xmlns="http://www.w3.org/1999/xhtml"><p>R210 Inherited MMR deficiency (Lynch syndrome). History of carcinoma.</p></div>
    </text>
    <entry>
      <reference value="urn:uuid:d6c19529-a64e-476b-b896-303abec26a79"/>
    </entry>
  </section>
  <section>
    <title value="Result summary"/>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="51968-6"/>
        <display value="Discrete variation analysis overall interpretation"/>
      </coding>
    </code>
    <text>
      <status value="generated"/>
      <div xmlns="http://www.w3.org/1999/xhtml"><p>Lynch syndrome: detected.</p></div>
    </text>
    <entry>
      <reference value="urn:uuid:c64139e7-f02d-409c-bf34-75e8bf23bc80"/>
    </entry>
  </section>
  <section>
    <title value="Results"/>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="69548-6"/>
        <display value="Genetic variant assessment"/>
      </coding>
    </code>
    <text>
      <status value="generated"/>
      <div xmlns="http://www.w3.org/1999/xhtml"><p>NTHL1 germline heterozygous duplication.</p></div>
    </text>
    <entry>
      <reference value="urn:uuid:8385c2fd-313d-4fd5-b98e-d5ea4bae6f99"/>
    </entry>
  </section>
  <section>
    <title value="Interpretation"/>
    <code>
      <coding>
        <system
                value="https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicReportSection"/>
        <code value="interpretation"/>
      </coding>
    </code>
    <text>
      <status value="generated"/>
      <div xmlns="http://www.w3.org/1999/xhtml"><p>Pathogenic. Inherited MMR deficiency (Lynch syndrome).</p></div>
    </text>
    <entry>
      <reference value="urn:uuid:6beb613f-d303-42af-b025-86e8e0872061"/>
    </entry>
  </section>
  <section>
    <title value="Methodology and limitations"/>
    <code>
      <coding>
        <system
                value="https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicReportSection"/>
        <code value="methodology"/>
      </coding>
    </code>
    <text>
      <status value="generated"/>
      <div xmlns="http://www.w3.org/1999/xhtml"><p>R210 Inherited MMR deficiency (Lynch syndrome).</p></div>
    </text>
    <entry>
      <reference value="urn:uuid:0878c5de-c22f-4e31-841a-a82ad31c93aa"/>
    </entry>
    <entry>
      <reference value="urn:uuid:f0036554-cd1a-463c-ac8a-d891ca409af9"/>
    </entry>
  </section>
</Composition>