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

## : FindSubjectHaplotypesOutput - XML Representation

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    <Parameters xmlns="http://hl7.org/fhir">
      <id value="FindSubjectHaplotypesOutput"/>
      <parameter>
        <name value="haplotypes"/>
        <part>
          <name value="geneItem"/>
          <valueString value="http://www.genenames.org|HGNC:2625"/>
        </part>
        <part>
          <name value="genotype"/>
          <resource>
            <Observation>
              <id value="GenotypeCYP2D6"/>
              <meta>
                <profile
                         value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"/>
              </meta>
              <text>
                <status value="generated"/>
                <div xmlns="http://www.w3.org/1999/xhtml">Genotype</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="84413-4"/>
                  <display value="Genotype display name"/>
                </coding>
              </code>
              <subject>🔗
                <reference value="Patient/CGPatientExample01"/>
              </subject>
              <effectiveDateTime value="2023-07-01"/>
              <performer>🔗
                <reference value="Organization/ExampleOrg"/>
              </performer>
              <valueCodeableConcept>
                <coding>
                  <system value="http://www.pharmvar.org"/>
                  <code value="CYP2D6_*1/*1"/>
                  <display value="CYP2D6 *1/*1"/>
                </coding>
              </valueCodeableConcept>
              <specimen>🔗
                <reference value="Specimen/GenomicSpecimenExample01"/>
              </specimen>
              <component>
                <code>
                  <coding>
                    <system value="http://loinc.org"/>
                    <code value="48018-6"/>
                    <display value="Gene studied [ID]"/>
                  </coding>
                </code>
                <valueCodeableConcept>
                  <coding>
                    <system value="http://www.genenames.org"/>
                    <code value="HGNC:2625"/>
                    <display value="CYP2D6"/>
                  </coding>
                </valueCodeableConcept>
              </component>
            </Observation>
          </resource>
        </part>
      </parameter>
      <parameter>
        <name value="haplotypes"/>
        <part>
          <name value="geneItem"/>
          <valueString value="http://www.genenames.org|HGNC:2621"/>
        </part>
        <part>
          <name value="genotype"/>
          <resource>
            <Observation>
              <id value="GenotypeCYP2C19"/>
              <meta>
                <profile
                         value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"/>
              </meta>
              <text>
                <status value="generated"/>
                <div xmlns="http://www.w3.org/1999/xhtml">Genotype</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="84413-4"/>
                  <display value="Genotype display name"/>
                </coding>
              </code>
              <subject>🔗
                <reference value="Patient/CGPatientExample01"/>
              </subject>
              <effectiveDateTime value="2023-07-01"/>
              <performer>🔗
                <reference value="Organization/ExampleOrg"/>
              </performer>
              <valueCodeableConcept>
                <coding>
                  <system value="http://www.pharmvar.org"/>
                  <code value="CYP2C19_*1/*2"/>
                  <display value="CYP2C19 *1/*2"/>
                </coding>
              </valueCodeableConcept>
              <specimen>🔗
                <reference value="Specimen/GenomicSpecimenExample01"/>
              </specimen>
              <component>
                <code>
                  <coding>
                    <system value="http://loinc.org"/>
                    <code value="48018-6"/>
                    <display value="Gene studied [ID]"/>
                  </coding>
                </code>
                <valueCodeableConcept>
                  <coding>
                    <system value="http://www.genenames.org"/>
                    <code value="HGNC:2621"/>
                    <display value="CYP2C19"/>
                  </coding>
                </valueCodeableConcept>
              </component>
            </Observation>
          </resource>
        </part>
      </parameter>
    </Parameters>