HL7.FHIR.UV.GENOMICS-REPORTING\Example - Observation-Pgx-var-1018 - XML Representation

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 - Observation-Pgx-var-1018 - XML Representation

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<Observation xmlns="http://hl7.org/fhir">
  <id value="Pgx-var-1018"/>
  <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>subject</b>: <a href="Patient-CGPatientExample01.html">Generated Summary: Medical Record Number: m123 (USUAL); Adam B. Everyman ; gender: male; birthDate: 1951-01-20</a></p><p><b>effective</b>: 2020-01-01</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 48013-7}">Genomic reference sequence [ID]</span></p><p><b>value</b>: <span title="Codes: {https://www.ncbi.nlm.nih.gov/nuccore NC_000010.10}">b37 Chr10</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes: {http://loinc.org 92822-6}">Genomic coordinate system [Type]</span></p><p><b>value</b>: <span title="Codes: {http://loinc.org LA30102-0}">1-based character counting</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes exact-start-end}">Variant exact start and end</span></p><p><b>value</b>: 96612495-96612495</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes: {http://loinc.org 69547-8}">Genomic ref allele [ID]</span></p><p><b>value</b>: C</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes: {http://loinc.org 69551-0}">Genomic alt allele [ID]</span></p><p><b>value</b>: C</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><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes: {http://loinc.org 53034-5}">Allelic state</span></p><p><b>value</b>: <span title="Codes: {http://loinc.org LA6705-3}">homozygous</span></p></blockquote><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/geneId HGNC:2621}">CYP2C19</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes: {http://loinc.org 48019-4}">DNA Change Type</span></p><p><b>value</b>: <span title="Codes: {http://sequenceontology.org SO:1000002}">wild type</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes: {http://loinc.org 82121-5}">Allelic read depth</span></p><p><b>value</b>: &gt;20</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/CGPatientExample01"/>
  </subject>
  <effectiveDateTime value="2020-01-01"/>
  <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="48013-7"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="https://www.ncbi.nlm.nih.gov/nuccore"/>
        <code value="NC_000010.10"/>
        <display value="b37 Chr10"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="92822-6"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://loinc.org"/>
        <code value="LA30102-0"/>
        <display value="1-based character counting"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system
                value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes"/>
        <code value="exact-start-end"/>
      </coding>
    </code>
    <valueRange>
      <low>
        <value value="96612495"/>
      </low>
      <high>
        <value value="96612495"/>
      </high>
    </valueRange>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="69547-8"/>
      </coding>
    </code>
    <valueString value="C"/>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="69551-0"/>
      </coding>
    </code>
    <valueString value="C"/>
  </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>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="53034-5"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://loinc.org"/>
        <code value="LA6705-3"/>
        <display value="homozygous"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48018-6"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://www.genenames.org/geneId"/>
        <code value="HGNC:2621"/>
        <display value="CYP2C19"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48019-4"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://sequenceontology.org"/>
        <code value="SO:1000002"/>
        <display value="wild type"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="82121-5"/>
      </coding>
    </code>
    <valueQuantity>
      <value value="20"/>
      <comparator value="&gt;"/>
    </valueQuantity>
  </component>
</Observation>