Genomics Reporting Implementation Guide
3.0.0 - release International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 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>