Genomics Reporting Implementation Guide
3.0.0 - STU3 International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0: STU3) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions

: Genotype-Clinical-Trial-Example-using-haplotypes - XML Representation

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<Observation xmlns="http://hl7.org/fhir">
  <id value="Genotype-Clinical-Trial-Example-using-haplotypes"/>
  <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 class="res-header-id"><b>Generated Narrative: Observation Genotype-Clinical-Trial-Example-using-haplotypes</b></p><a name="Genotype-Clinical-Trial-Example-using-haplotypes"> </a><a name="hcGenotype-Clinical-Trial-Example-using-haplotypes"> </a><a name="Genotype-Clinical-Trial-Example-using-haplotypes-en-US"> </a><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://loinc.org 84413-4}">Genotype display name</span></p><p><b>subject</b>: <a href="Patient-CGPatientExample01.html">Adam B. Everyman  Male, DoB: 1951-01-20 ( Medical Record Number: m123 (use: usual, ))</a></p><p><b>effective</b>: 2019-04-01</p><p><b>performer</b>: <a href="Organization-ExampleOrg.html">Organization some lab</a></p><p><b>value</b>: <span title="Codes:">APOE e1/e1</span></p><p><b>specimen</b>: <a href="Specimen-GenomicSpecimenExample02.html">Specimen: identifier = http://myorgsurl.com#123; accessionIdentifier = http://mylabsurl.com#456; status = available; type = Buccal smear sample</a></p><p><b>derivedFrom</b>: </p><ul><li><a href="Observation-HaplotypeSet-Clinical-Trial-Example-1of2.html">Observation Haplotype name</a></li><li><a href="Observation-HaplotypeSet-Clinical-Trial-Example-2of2.html">Observation Haplotype name</a></li></ul><h3>Components</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style="display: none">*</td><td><span title="Codes:{http://loinc.org 48018-6}">Gene studied [ID]</span></td><td><span title="Codes:{http://www.genenames.org HGNC:613}">APOE</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>
  <category>
    <coding>
      <system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
      <code value="GE"/>
    </coding>
  </category>
  <code>
    <coding>
      <system value="http://loinc.org"/>
      <code value="84413-4"/>
    </coding>
  </code>
  <subject>🔗 
    <reference value="Patient/CGPatientExample01"/>
  </subject>
  <effectiveDateTime value="2019-04-01"/>
  <performer>🔗 
    <reference value="Organization/ExampleOrg"/>
  </performer>
  <valueCodeableConcept>
    <text value="APOE e1/e1"/>
  </valueCodeableConcept>
  <specimen>🔗 
    <reference value="Specimen/GenomicSpecimenExample02"/>
  </specimen>
  <derivedFrom>🔗 
    <reference value="Observation/HaplotypeSet-Clinical-Trial-Example-1of2"/>
  </derivedFrom>
  <derivedFrom>🔗 
    <reference value="Observation/HaplotypeSet-Clinical-Trial-Example-2of2"/>
  </derivedFrom>
  <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:613"/>
        <display value="APOE"/>
      </coding>
    </valueCodeableConcept>
  </component>
</Observation>