NHS North West Genomics, published by NHS North West Genomics. This guide is not an authorized publication; it is the continuous build for version 0.2.1 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/nw-gmsa/nw-gmsa.github.com/ and changes regularly. See the Directory of published versions

• Narrative Content
• XML
• JSON

: Genomic Study (Panel) - Lynch Syndrome - XML Representation

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<Observation xmlns="http://hl7.org/fhir">
  <id value="0878c5de-c22f-4e31-841a-a82ad31c93aa"/>
  <meta>
    <profile
             value="https://fhir.nwgenomics.nhs.uk/StructureDefinition/GenomicStudyPanel"/>
  </meta>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: Observation 0878c5de-c22f-4e31-841a-a82ad31c93aa</b></p><a name="0878c5de-c22f-4e31-841a-a82ad31c93aa"> </a><a name="hc0878c5de-c22f-4e31-841a-a82ad31c93aa"> </a><div style="display: inline-block; background-color: #d9e0e7; 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-GenomicStudyPanel.html">Genomic Study (Observation Panel)</a></p></div><p><b>identifier</b>: 0878c5de-c22f-4e31-841a-a82ad31c93aa</p><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span>, <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81306-3}">Variables that apply to the overall study</span></p><p><b>subject</b>: <a href="Patient-Patient-Liverpool.html">Ned LIVERPOOL</a></p><p><b>effective</b>: 2025-10-23 10:37:26+0000</p><p><b>performer</b>: <a href="PractitionerRole-59577028-8fcc-4554-8b43-988561d41d9c.html">PractitionerRole</a></p><h3>Components</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style="display: none">*</td><td><span title="Codes:{http://loinc.org 51967-8}">Genetic disease(s) assessed</span></td><td><span title="Codes:{https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication R210}">Inherited MMR deficiency (Lynch syndrome)</span></td></tr></table></div>
  </text>
  <identifier>
    <value value="0878c5de-c22f-4e31-841a-a82ad31c93aa"/>
  </identifier>
  <status value="final"/>
  <category>
    <coding>
      <system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
      <code value="GE"/>
      <display value="Genetics"/>
    </coding>
  </category>
  <category>
    <coding>
      <system
              value="http://terminology.hl7.org/CodeSystem/observation-category"/>
      <code value="laboratory"/>
    </coding>
  </category>
  <code>
    <coding>
      <system value="http://loinc.org"/>
      <code value="81306-3"/>
      <display value="Variables that apply to the overall study"/>
    </coding>
  </code>
  <subject>🔗 
    <reference value="Patient/Patient-Liverpool"/>
    <display value="Ned LIVERPOOL"/>
  </subject>
  <effectiveDateTime value="2025-10-23T10:37:26+00:00"/>
  <performer>🔗 
    <reference value="PractitionerRole/59577028-8fcc-4554-8b43-988561d41d9c"/>
  </performer>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="51967-8"/>
        <display value="Genetic disease(s) assessed"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system
                value="https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication"/>
        <code value="R210"/>
        <display value="Inherited MMR deficiency (Lynch syndrome)"/>
      </coding>
    </valueCodeableConcept>
  </component>
</Observation>