Genomics Reporting Implementation Guide
3.0.0 - release International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. 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 class="res-header-id"><b>Generated Narrative: Observation PolyGenicDiagnosticImpExample</b></p><a name="PolyGenicDiagnosticImpExample"> </a><a name="hcPolyGenicDiagnosticImpExample"> </a><a name="PolyGenicDiagnosticImpExample-en-US"> </a><p><b>Genomic Risk Assessment</b>: <a href="RiskAssessment-GenRiskDiabetesT2.html">Polygenic Risk Score</a></p><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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}">Diagnostic Implication</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>derivedFrom</b>: </p><ul><li>Variant 1 (Identifier: <code>http://hospital.example.org</code>/11)</li><li>Variant 2 (Identifier: <code>http://hospital.example.org</code>/12)</li></ul><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 53037-8}">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA6668-3}">Pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81259-4}">Associated phenotype</span></p><p><b>value</b>: <span title="Codes:{http://snomed.info/sct 44054006}">Diabetes mellitus type 2 (disorder)</span></p></blockquote></div>
  </text>
  <extension
             url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-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>
  <category>
    <coding>
      <system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
      <code value="GE"/>
    </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>
  <effectiveDateTime value="2019-04-01"/>
  <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>
  <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>