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

: PolyGenicDiagnosticImpExample - XML Representation

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<Observation xmlns="http://hl7.org/fhir">
  <id value="PolyGenicDiagnosticImpExample"/>
  <meta>
    <profile
             value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"/>
  </meta>
  <text>
    <status value="extensions"/>
    <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 "PolyGenicDiagnosticImpExample" </p><p style="margin-bottom: 0px">Profile: <a href="StructureDefinition-diagnostic-implication.html">Diagnostic Implication</a></p></div><p><b>Genomics Risk Assessment</b>: <a href="RiskAssessment-GenRiskDiabetesT2.html">RiskAssessment/GenRiskDiabetesT2: Polygenic Risk Score</a></p><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>: Diagnostic Implication <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="CodeSystem-tbd-codes-cs.html">To Be Determined Codes</a>#diagnostic-implication)</span></p><p><b>subject</b>: <a href="Patient-CGPatientExample01.html">Patient/CGPatientExample01</a> " EVERYMAN"</p><p><b>performer</b>: <a href="Organization-ExampleOrg.html">Organization/ExampleOrg</a> "some lab"</p><p><b>derivedFrom</b>: </p><ul><li><span>: Variant 1</span></li><li><span>: Variant 2</span></li><li><span>: Variant 3</span></li><li><span>: Variant 4</span></li><li><span>: Variant 5</span></li><li><span>: Variant 6</span></li><li><span>: Variant 7</span></li></ul><blockquote><p><b>component</b></p><p><b>code</b>: Genetic variation clinical significance [Imp] <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="https://loinc.org/">LOINC</a>#53037-8)</span></p><p><b>value</b>: Pathogenic <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="https://loinc.org/">LOINC</a>#LA6668-3)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Associated phenotype <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="https://loinc.org/">LOINC</a>#81259-4)</span></p><p><b>value</b>: Diabetes mellitus type 2 (disorder) <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="https://browser.ihtsdotools.org/">SNOMED CT</a>#44054006)</span></p></blockquote></div>
  </text>
  <extension
             url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-risk-assessment">
    <valueReference>
      <reference value="RiskAssessment/GenRiskDiabetesT2"/>
      <display value="Polygenic Risk Score"/>
    </valueReference>
  </extension>
  <status value="final"/>
  <category>
    <coding>
      <system value="http://terminology.hl7.org/CodeSystem/observation-category"/>
      <code value="laboratory"/>
    </coding>
  </category>
  <code>
    <coding>
      <system
              value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
      <code value="diagnostic-implication"/>
    </coding>
  </code>
  <subject>
    <reference value="Patient/CGPatientExample01"/>
  </subject>
  <performer>
    <reference value="Organization/ExampleOrg"/>
  </performer>
  <derivedFrom>
    <identifier>
      <system value="http://hospital.example.org"/>
      <value value="11"/>
    </identifier>
    <display value="Variant 1"/>
  </derivedFrom>
  <derivedFrom>
    <identifier>
      <system value="http://hospital.example.org"/>
      <value value="12"/>
    </identifier>
    <display value="Variant 2"/>
  </derivedFrom>
  <derivedFrom>
    <identifier>
      <system value="http://hospital.example.org"/>
      <value value="13"/>
    </identifier>
    <display value="Variant 3"/>
  </derivedFrom>
  <derivedFrom>
    <identifier>
      <system value="http://hospital.example.org"/>
      <value value="14"/>
    </identifier>
    <display value="Variant 4"/>
  </derivedFrom>
  <derivedFrom>
    <identifier>
      <system value="http://hospital.example.org"/>
      <value value="15"/>
    </identifier>
    <display value="Variant 5"/>
  </derivedFrom>
  <derivedFrom>
    <identifier>
      <system value="http://hospital.example.org"/>
      <value value="16"/>
    </identifier>
    <display value="Variant 6"/>
  </derivedFrom>
  <derivedFrom>
    <identifier>
      <system value="http://hospital.example.org"/>
      <value value="17"/>
    </identifier>
    <display value="Variant 7"/>
  </derivedFrom>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="53037-8"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://loinc.org"/>
        <code value="LA6668-3"/>
        <display value="Pathogenic"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="81259-4"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://snomed.info/sct"/>
        <code value="44054006"/>
        <display value="Diabetes mellitus type 2 (disorder)"/>
      </coding>
    </valueCodeableConcept>
  </component>
</Observation>