Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

: FindSubjectDxImplicationsOutput - XML Representation

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<Parameters xmlns="http://hl7.org/fhir">
  <id value="FindSubjectDxImplicationsOutput"/>
  <parameter>
    <name value="implication"/>
    <resource>
      <Observation>
        <id value="DiagnosticImplicationExample"/>
        <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">Pathogenic - Malignant hyperthermia</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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
            <code value="diagnostic-implication"/>
          </coding>
        </code>
        <subject>🔗 
          <reference value="Patient/HG00403"/>
        </subject>
        <effectiveDateTime value="2023-04-01"/>
        <performer>🔗 
          <reference value="Organization/ExampleOrg"/>
        </performer>
        <derivedFrom>🔗 
          <reference value="Observation/VariantExample2"/>
        </derivedFrom>
        <component>
          <code>
            <coding>
              <system value="http://loinc.org"/>
              <code value="53037-8"/>
            </coding>
            <text value="Genetic variation clinical significance"/>
          </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>
            <text value="Predicted phenotype"/>
          </code>
          <valueCodeableConcept>
            <coding>
              <system value="http://snomed.info/sct"/>
              <code value="405501007"/>
              <display value="Malignant hyperthermia"/>
            </coding>
          </valueCodeableConcept>
        </component>
      </Observation>
    </resource>
  </parameter>
  <parameter>
    <name value="variant"/>
    <resource>
      <Observation>
        <id value="variantExample2"/>
        <meta>
          <profile
                   value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"/>
        </meta>
        <text>
          <status value="generated"/>
          <div xmlns="http://www.w3.org/1999/xhtml">NC_000019.10:g.38499669C>T</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="69548-6"/>
            <display value="Genetic variant assessment"/>
          </coding>
        </code>
        <subject>🔗 
          <reference value="Patient/HG00403"/>
        </subject>
        <effectiveDateTime value="2023-04-01"/>
        <performer>🔗 
          <reference value="Organization/ExampleOrg"/>
        </performer>
        <valueCodeableConcept>
          <coding>
            <system value="http://loinc.org"/>
            <code value="LA9633-4"/>
            <display value="Present"/>
          </coding>
        </valueCodeableConcept>
        <component>
          <code>
            <coding>
              <system value="http://loinc.org"/>
              <code value="48002-0"/>
              <display value="Genomic source class [Type]"/>
            </coding>
          </code>
          <valueCodeableConcept>
            <coding>
              <system value="http://loinc.org"/>
              <code value="LA6683-2"/>
              <display value="Germline"/>
            </coding>
          </valueCodeableConcept>
        </component>
        <component>
          <code>
            <coding>
              <system value="http://loinc.org"/>
              <code value="48013-7"/>
              <display value="Genomic reference sequence ID"/>
            </coding>
          </code>
          <valueCodeableConcept>
            <coding>
              <system value="http://www.ncbi.nlm.nih.gov/refseq"/>
              <code value="NC_000019.10"/>
            </coding>
          </valueCodeableConcept>
        </component>
        <component>
          <code>
            <coding>
              <system value="http://loinc.org"/>
              <code value="69547-8"/>
              <display value="Genomic Ref allele [ID]"/>
            </coding>
          </code>
          <valueString value="C"/>
        </component>
        <component>
          <code>
            <coding>
              <system value="http://loinc.org"/>
              <code value="69551-0"/>
              <display value="Genomic Alt allele [ID]"/>
            </coding>
          </code>
          <valueString value="T"/>
        </component>
        <component>
          <code>
            <coding>
              <system value="http://loinc.org"/>
              <code value="92822-6"/>
              <display value="Genomic coord system"/>
            </coding>
          </code>
          <valueCodeableConcept>
            <coding>
              <system value="http://loinc.org"/>
              <code value="LA30100-4"/>
              <display value="0-based interval counting"/>
            </coding>
          </valueCodeableConcept>
        </component>
        <component>
          <code>
            <coding>
              <system value="http://loinc.org"/>
              <code value="81254-5"/>
            </coding>
            <text value="Genomic allele start-end"/>
          </code>
          <valueRange>
            <low>
              <value value="38499669"/>
            </low>
          </valueRange>
        </component>
      </Observation>
    </resource>
  </parameter>
</Parameters>