North West Genomic Medicine Service Alliance
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DRAFT Implementation Guide

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: Genomic Report Ovarian Carcinoma Diagnostic Implication Example - XML Representation

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<Observation xmlns="http://hl7.org/fhir">
  <id value="m2-diagnostic-implication"/>
  <meta>
    <profile
             value="https://nw-gmsa.github.io/StructureDefinition/Observation-DiagnosticImplication"/>
  </meta>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: Observation m2-diagnostic-implication</b></p><a name="m2-diagnostic-implication"> </a><a name="hcm2-diagnostic-implication"> </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>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span>, <span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</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="Bundle-FHIRDocumentGeneticReportBundle.html#urn-uuid-d6faafcf-db64-4c11-9da8-25f36774c1bd">Octavia CHISLETT</a></p><p><b>derivedFrom</b>: <a href="Observation-brca1-variant.html">BRCA1</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:{http://snomed.info/sct 307726001}, {https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory M2}">Anaemia in ovarian carcinoma</span></p></blockquote></div>
  </text>
  <status value="final"/>
  <category>
    <coding>
      <system
              value="http://terminology.hl7.org/CodeSystem/observation-category"/>
      <code value="laboratory"/>
    </coding>
  </category>
  <category>
    <coding>
      <system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
      <code value="GE"/>
    </coding>
  </category>
  <code>
    <coding>
      <system
              value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
      <code value="diagnostic-implication"/>
    </coding>
  </code>
  <subject>
    <reference value="urn:uuid:d6faafcf-db64-4c11-9da8-25f36774c1bd"/>
    <identifier>
      <system value="https://fhir.nhs.uk/Id/nhs-number"/>
      <value value="9449305552"/>
    </identifier>
    <display value="Octavia CHISLETT"/>
  </subject>
  <derivedFrom>🔗 
    <reference value="Observation/brca1-variant"/>
    <display value="BRCA1"/>
  </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"/>
        <display value="Associated phenotype"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://snomed.info/sct"/>
        <code value="307726001"/>
        <display value="Anaemia in ovarian carcinoma"/>
      </coding>
      <coding>
        <system
                value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory"/>
        <code value="M2"/>
        <display value="Ovarian Carcinoma"/>
      </coding>
    </valueCodeableConcept>
  </component>
</Observation>