Genomics Reporting Implementation Guide
2.0.0 - trial-use

This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

: GenotypeExample1 - XML Representation

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<Observation xmlns="http://hl7.org/fhir">
  <id value="GenotypeExample1"/>
  <meta>
    <profile
             value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"/>
  </meta>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative</b></p><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">Resource "GenotypeExample1" </p><p style="margin-bottom: 0px">Profile: <a href="StructureDefinition-genotype.html">Genotype</a></p></div><p><b>status</b>: final</p><p><b>category</b>: Laboratory <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="http://terminology.hl7.org/3.1.0/CodeSystem-observation-category.html">Observation Category Codes</a>#laboratory)</span></p><p><b>code</b>: Genotype display name <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="https://loinc.org/">LOINC</a>#84413-4)</span></p><p><b>subject</b>: <a href="Patient-CGPatientExample01.html">Patient/CGPatientExample01</a> " EVERYMAN"</p><p><b>effective</b>: 2018</p><p><b>value</b>: HLA-B*15:02 <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (clinvar#14909)</span></p><p><b>specimen</b>: <a href="Specimen-GenomicSpecimenExample01.html">Specimen/GenomicSpecimenExample01</a></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>Gene studied [ID] <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="https://loinc.org/">LOINC</a>#48018-6)</span></td><td>HLA-B <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (geneId#HGNC:4932)</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="84413-4"/>
    </coding>
  </code>
  <subject>
    <reference value="Patient/CGPatientExample01"/>
  </subject>
  <effectiveDateTime value="2018"/>
  <valueCodeableConcept>
    <coding>
      <system value="http://www.ncbi.nlm.nih.gov/clinvar"/>
      <code value="14909"/>
      <display value="HLA-B*15:02"/>
    </coding>
  </valueCodeableConcept>
  <specimen>
    <reference value="Specimen/GenomicSpecimenExample01"/>
  </specimen>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48018-6"/>
        <display value="Gene studied [ID]"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://www.genenames.org/geneId"/>
        <code value="HGNC:4932"/>
        <display value="HLA-B"/>
      </coding>
    </valueCodeableConcept>
  </component>
</Observation>