Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild 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

## : 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&gt;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>