NHS North West Genomics, published by NHS North West Genomics. This guide is not an authorized publication; it is the continuous build for version 0.0.8 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

: Bundle - Genomic Diagnostic Implication for a Patient QEDm - XML Representation

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<Bundle xmlns="http://hl7.org/fhir">
  <id value="92a0a6c6-404f-4347-8de4-fa1c457a037e"/>
  <type value="searchset"/>
  <total value="1"/>
  <link>
    <relation value="self"/>
    <url
         value="https://example.nhs.uk/FHIR/R4/Observation?code=diagnostic-implication&amp;patient=Patient-Liverpool"/>
  </link>
  <entry>
    <fullUrl
             value="http://example.org/fhir/Observation/6beb613f-d303-42af-b025-86e8e0872061"/>
    <resource>
      <Observation>
        <id value="6beb613f-d303-42af-b025-86e8e0872061"/>
        <meta>
          <profile
                   value="https://fhir.nwgenomics.nhs.uk/StructureDefinition/Observation-DiagnosticImplication"/>
        </meta>
        <text>
          <status value="generated"/>
          <div xmlns="http://www.w3.org/1999/xhtml"><a name="Observation_6beb613f-d303-42af-b025-86e8e0872061"> </a><p class="res-header-id"><b>Generated Narrative: Observation 6beb613f-d303-42af-b025-86e8e0872061</b></p><a name="6beb613f-d303-42af-b025-86e8e0872061"> </a><a name="hc6beb613f-d303-42af-b025-86e8e0872061"> </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-Observation-DiagnosticImplication.html">Observation Diagnostic Implication</a></p></div><p><b>identifier</b>: 6beb613f-d303-42af-b025-86e8e0872061</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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}">Diagnostic Implication</span></p><p><b>subject</b>: <a href="Patient-Patient-Liverpool.html">Paul 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><p><b>derivedFrom</b>: <a href="Observation-8385c2fd-313d-4fd5-b98e-d5ea4bae6f99.html">Observation Genetic variant assessment</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 53037-8}">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA6668-3}">Pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81259-4}">Associated phenotype</span></p><p><b>value</b>: <span title="Codes:{https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication R210}, {http://snomed.info/sct 1365861003}">Inherited MMR deficiency (Lynch syndrome)</span></p></blockquote></div>
        </text>
        <identifier>
          <value value="6beb613f-d303-42af-b025-86e8e0872061"/>
        </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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
            <code value="diagnostic-implication"/>
            <display value="Diagnostic Implication"/>
          </coding>
        </code>
        <subject>🔗 
          <reference value="Patient/Patient-Liverpool"/>
          <display value="Paul LIVERPOOL"/>
        </subject>
        <effectiveDateTime value="2025-10-23T10:37:26+00:00"/>
        <performer>🔗 
          <reference
                     value="PractitionerRole/59577028-8fcc-4554-8b43-988561d41d9c"/>
        </performer>
        <derivedFrom>🔗 
          <reference
                     value="Observation/8385c2fd-313d-4fd5-b98e-d5ea4bae6f99"/>
        </derivedFrom>
        <component>
          <code>
            <coding>
              <system value="http://loinc.org"/>
              <code value="53037-8"/>
              <display value="Genetic variation clinical significance [Imp]"/>
            </coding>
          </code>
          <valueCodeableConcept>
            <coding>
              <system value="http://loinc.org"/>
              <code value="LA6668-3"/>
              <display value="Pathogenic"/>
            </coding>
          </valueCodeableConcept>
        </component>
        <component>
          <code>
            <coding>
              <system value="http://loinc.org"/>
              <code value="81259-4"/>
            </coding>
          </code>
          <valueCodeableConcept>
            <coding>
              <system
                      value="https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication"/>
              <code value="R210"/>
              <display value="Inherited MMR deficiency (Lynch syndrome)"/>
            </coding>
            <coding>
              <system value="http://snomed.info/sct"/>
              <code value="1365861003"/>
              <display value="Lynch syndrome gene mutation detected"/>
            </coding>
            <text value="Inherited MMR deficiency (Lynch syndrome)"/>
          </valueCodeableConcept>
        </component>
      </Observation>
    </resource>
    <search>
      <mode value="match"/>
    </search>
  </entry>
</Bundle>