This page is part of the HL7 FHIR Implementation Guide: minimal Common Oncology Data Elements (mCODE) Release 1 - US Realm | STU1 (v1.16.0: STU 2 Ballot 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

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: cancer-genetic-variant-germline-deletion - XML Representation

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<Observation xmlns="http://hl7.org/fhir">
  <id value="cancer-genetic-variant-germline-deletion"/>
  <meta>
    <profile
             value="http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-cancer-genetic-variant"/>
  </meta>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative</b></p><p></p><p><b>category</b>: <span title="Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span></p><p><b>code</b>: <span title="Codes: {http://loinc.org 69548-6}">Genetic variant assessment</span></p><p><b>subject</b>: <a href="Patient-cancer-patient-john-anyperson.html">Generated Summary: Medical Record Number: m123 (USUAL); John B. Anyperson ; gender: male; birthDate: 1951-01-20</a></p><p><b>effective</b>: 2019-04-01</p><p><b>value</b>: <span title="Codes: {http://loinc.org LA9633-4}">Present</span></p><p><b>method</b>: <span title="Codes: {http://loinc.org LA26398-0}">Sequencing</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes: {http://loinc.org 48018-6}">Gene studied [ID]</span></p><p><b>value</b>: <span title="Codes: {http://www.genenames.org HGNC:1100}">BRCA1</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes: {http://loinc.org 81290-9}">Genomic DNA change (gHGVS)</span></p><p><b>value</b>: <span title="Codes: {http://varnomen.hgvs.org NG_005905.2:g.126148_126152del}">NG_005905.2:g.126148_126152del</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes: {http://loinc.org 48002-0}">Genomic source class [Type]</span></p><p><b>value</b>: <span title="Codes: {http://loinc.org LA6683-2}">Germline</span></p></blockquote></div>
  </text>
  <status value="final"/>
  <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="69548-6"/>
    </coding>
  </code>
  <subject>
    <reference value="Patient/cancer-patient-john-anyperson"/>
  </subject>
  <effectiveDateTime value="2019-04-01"/>
  <valueCodeableConcept>
    <coding>
      <system value="http://loinc.org"/>
      <code value="LA9633-4"/>
      <display value="Present"/>
    </coding>
  </valueCodeableConcept>
  <method>
    <coding>
      <system value="http://loinc.org"/>
      <code value="LA26398-0"/>
      <display value="Sequencing"/>
    </coding>
  </method>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48018-6"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://www.genenames.org"/>
        <code value="HGNC:1100"/>
        <display value="BRCA1"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="81290-9"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://varnomen.hgvs.org"/>
        <code value="NG_005905.2:g.126148_126152del"/>
        <display value="NG_005905.2:g.126148_126152del"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48002-0"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://loinc.org"/>
        <code value="LA6683-2"/>
        <display value="Germline"/>
      </coding>
    </valueCodeableConcept>
  </component>
</Observation>