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

: FindSubjectSpecificHaplotypesOutput - XML Representation

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<Parameters xmlns="http://hl7.org/fhir">
  <id value="FindSubjectSpecificHaplotypesOutput"/>
  <parameter>
    <name value="haplotypes"/>
    <part>
      <name value="haplotypeItem"/>
      <valueString value="HLA-A*23"/>
    </part>
    <part>
      <name value="presence"/>
      <valueBoolean value="true"/>
    </part>
    <part>
      <name value="genotype"/>
      <resource>
        <Observation>
          <id value="Genotype7"/>
          <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://glstring.org"/>
              <version value="1.0"/>
              <code
                    value="hla#3.33.0#HLA-A*02:69+HLA-A*23:30|HLA-A*02:302+HLA-A*23:26/HLA-A*23:39"/>
              <display
                       value="hla#3.33.0#HLA-A*02:69+HLA-A*23:30|HLA-A*02:302+HLA-A*23:26/HLA-A*23:39"/>
            </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:4931"/>
                <display value="HLA-A"/>
              </coding>
            </valueCodeableConcept>
          </component>
        </Observation>
      </resource>
    </part>
  </parameter>
</Parameters>