Genomics Reporting Implementation Guide
1.1.0 - Ballot

This page is part of the Genetic Reporting Implementation Guide (v1.1.0: 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

: Example - Complex Variant (HGVS) - XML Representation

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<!--  Observation/?component-code=http://loinc.org|81263-6&_include:iterate=Observation:has-member  -->
<!--  Observation/?component-code=http://loinc.org|81263-6&_include=Observation:has-member  -->
<!--  Observation/?component-code=http://loinc.org|48004-6&_revinclude=Observation:has-member  -->
<Bundle xmlns="http://hl7.org/fhir">
  <id value="compound-heterozygote"/>
  <type value="transaction"/>
  <entry>
    <fullUrl value="urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d"/>
    <resource>
      <Observation>
        <meta>
          <profile
                   value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/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>value</b>: <span title="Codes: {http://loinc.org LA9633-4}">Present</span></p><h3>Components</h3><table class="grid"><tr><td>-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td>*</td><td><span title="Codes: {http://loinc.org 48004-6}">DNA change (c.HGVS)</span></td><td><span title="Codes: {http://varnomen.hgvs.org NM_022787.3:c.769G&gt;A}">NM_022787.3:c.769G&gt;A</span></td></tr></table></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"/>
            <display value="Genetic variant assessment"/>
          </coding>
        </code>
        <valueCodeableConcept>
          <coding>
            <system value="http://loinc.org"/>
            <code value="LA9633-4"/>
            <display value="Present"/>
          </coding>
        </valueCodeableConcept>
        <component>
          <code>
            <coding>
              <system value="http://loinc.org"/>
              <code value="48004-6"/>
              <display value="DNA change (c.HGVS)"/>
            </coding>
          </code>
          <valueCodeableConcept>
            <coding>
              <system value="http://varnomen.hgvs.org"/>
              <code value="NM_022787.3:c.769G&gt;A"/>
              <display value="NM_022787.3:c.769G&gt;A"/>
            </coding>
          </valueCodeableConcept>
        </component>
      </Observation>
    </resource>
    <request>
      <method value="POST"/>
      <url value="Observation"/>
    </request>
  </entry>
  <entry>
    <fullUrl value="urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12e"/>
    <resource>
      <Observation>
        <meta>
          <profile
                   value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/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>value</b>: <span title="Codes: {http://loinc.org LA9633-4}">Present</span></p><h3>Components</h3><table class="grid"><tr><td>-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td>*</td><td><span title="Codes: {http://loinc.org 48004-6}">DNA change (c.HGVS)</span></td><td><span title="Codes: {http://varnomen.hgvs.org NM_022787.3:c.53A&gt;G}">NM_022787.3:c.53A&gt;G</span></td></tr></table></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"/>
            <display value="Genetic variant assessment"/>
          </coding>
        </code>
        <valueCodeableConcept>
          <coding>
            <system value="http://loinc.org"/>
            <code value="LA9633-4"/>
            <display value="Present"/>
          </coding>
        </valueCodeableConcept>
        <component>
          <code>
            <coding>
              <system value="http://loinc.org"/>
              <code value="48004-6"/>
              <display value="DNA change (c.HGVS)"/>
            </coding>
          </code>
          <valueCodeableConcept>
            <coding>
              <system value="http://varnomen.hgvs.org"/>
              <code value="NM_022787.3:c.53A&gt;G"/>
              <display value="NM_022787.3:c.53A&gt;G"/>
            </coding>
          </valueCodeableConcept>
        </component>
      </Observation>
    </resource>
    <request>
      <method value="POST"/>
      <url value="Observation"/>
    </request>
  </entry>
  <entry>
    <fullUrl value="urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12a"/>
    <resource>
      <Observation>
        <meta>
          <profile
                   value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/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>value</b>: <span title="Codes: {http://loinc.org LA9633-4}">Present</span></p><p><b>hasMember</b>: </p><ul><li><a href="#urnuuid16fdd5fc-e665-48af-99e4-48d603f3e12e">NM_022787.3:c.53A&gt;G. Generated Summary: <span title="Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span>; <span title="Codes: {http://loinc.org 69548-6}">Genetic variant assessment</span>; <span title="Codes: {http://loinc.org LA9633-4}">Present</span></a></li><li><a href="#urnuuid16fdd5fc-e665-48af-99e4-48d603f3e12d">NM_022787.3:c.769G&gt;A. Generated Summary: <span title="Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span>; <span title="Codes: {http://loinc.org 69548-6}">Genetic variant assessment</span>; <span title="Codes: {http://loinc.org LA9633-4}">Present</span></a></li></ul><h3>Components</h3><table class="grid"><tr><td>-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td>*</td><td><span title="Codes: {http://loinc.org 81263-6}">Complex Variant Type</span></td><td><span title="Codes: {http://loinc.org LA26217-2}">Compound heterozygous</span></td></tr></table></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"/>
            <display value="Genetic variant assessment"/>
          </coding>
        </code>
        <valueCodeableConcept>
          <coding>
            <system value="http://loinc.org"/>
            <code value="LA9633-4"/>
            <display value="Present"/>
          </coding>
        </valueCodeableConcept>
        <hasMember>
          <reference value="urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12e"/>
          <display value="NM_022787.3:c.53A&gt;G"/>
        </hasMember>
        <hasMember>
          <reference value="urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d"/>
          <display value="NM_022787.3:c.769G&gt;A"/>
        </hasMember>
        <component>
          <code>
            <coding>
              <system value="http://loinc.org"/>
              <code value="81263-6"/>
              <display value="Complex Variant Type"/>
            </coding>
          </code>
          <valueCodeableConcept>
            <coding>
              <system value="http://loinc.org"/>
              <code value="LA26217-2"/>
              <display value="Compound heterozygous"/>
            </coding>
          </valueCodeableConcept>
        </component>
      </Observation>
    </resource>
    <request>
      <method value="POST"/>
      <url value="Observation"/>
    </request>
  </entry>
</Bundle>