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

• Narrative Content
• XML
• JSON
• TTL

: Example - ACMG Screening result - XML Representation

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<Observation xmlns="http://hl7.org/fhir">
  <id value="AnnotationExample"/>
  <meta>
    <profile
             value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"/>
  </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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes diagnostic-implication}">Diagnostic Implication</span></p><p><b>derivedFrom</b>: <a href="Observation-VariantExample2.html">Generated Summary: <span title="Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span>; <span title="Codes: {http://loinc.org 69548-6}">Genetic variant assessment</span>; effective: 2019-04-01; <span title="Codes: {http://loinc.org LA9633-4}">Present</span>; <span title="Codes: {http://loinc.org LA26398-0}">Sequencing</span></a></p><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 398036000}">Familial hypercholesterolemia (disorder)</span></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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes"/>
      <code value="diagnostic-implication"/>
    </coding>
  </code>
  <derivedFrom>
    <reference value="Observation/VariantExample2"/>
  </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="398036000"/>
        <display value="Familial hypercholesterolemia (disorder)"/>
      </coding>
    </valueCodeableConcept>
  </component>
</Observation>