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

## : FindSubjectStructuralIntersectingVariantsOutput - XML Representation

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    <Parameters xmlns="http://hl7.org/fhir">
      <id value="FindSubjectStructuralIntersectingVariantsOutput"/>
      <parameter>
        <name value="variants"/>
        <part>
          <name value="rangeItem"/>
          <valueString value="NC_000007.13:55242414-55242513"/>
        </part>
        <part>
          <name value="presence"/>
          <valueBoolean value="true"/>
        </part>
        <part>
          <name value="variant"/>
          <resource>
            <Observation>
              <id value="dv-fff9d40035a04"/>
              <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">Variant</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="2023-07-01"/>
              <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="48019-4"/>
                    <display value="DNA Change Type"/>
                  </coding>
                </code>
                <valueCodeableConcept>
                  <coding>
                    <system value="http://www.sequenceontology.org"/>
                    <code value="SO:0000159"/>
                    <display value="deletion"/>
                  </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_000007.13"/>
                  </coding>
                </valueCodeableConcept>
              </component>
              <component>
                <code>
                  <coding>
                    <system value="http://loinc.org"/>
                    <code value="48002-0"/>
                    <display value="Genomic Source Class"/>
                  </coding>
                </code>
                <valueCodeableConcept>
                  <coding>
                    <system value="http://loinc.org"/>
                    <code value="LA6684-0"/>
                    <display value="Somatic"/>
                  </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="G"/>
              </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="81302-2"/>
                  </coding>
                  <text value="Variant inner start and end"/>
                </code>
                <valueRange>
                  <low>
                    <value value="55240000"/>
                  </low>
                  <high>
                    <value value="55250000"/>
                  </high>
                </valueRange>
              </component>
            </Observation>
          </resource>
        </part>
      </parameter>
    </Parameters>