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

## : Find Subject Haplotypes - XML Representation

Page standards status: Trial-use | Maturity Level: 2

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    <OperationDefinition xmlns="http://hl7.org/fhir">
      <id value="find-subject-haplotypes"/>
      <text>
        <status value="generated"/>
        <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: OperationDefinition find-subject-haplotypes</b></p><a name="find-subject-haplotypes"> </a><a name="hcfind-subject-haplotypes"> </a><h3>Parameters</h3><table class="grid"><tr><td><b>Use</b></td><td><b>Name</b></td><td><b>Scope</b></td><td><b>Cardinality</b></td><td><b>Type</b></td><td><b>Binding</b></td><td><b>Documentation</b></td></tr><tr><td>IN</td><td>subject</td><td/><td>1..1</td><td><a href="http://hl7.org/fhir/R4/datatypes.html#string">string</a><br/>(<a href="https://hl7.org/fhir/R4/search.html#reference">reference</a>)</td><td/><td><div><p>The subject of interest.</p>
    </div></td></tr><tr><td>IN</td><td>genes</td><td/><td>1..*</td><td><a href="http://hl7.org/fhir/R4/datatypes.html#string">string</a><br/>(<a href="https://hl7.org/fhir/R4/search.html#token">token</a>)</td><td/><td><div><p>List of genes to be searched. Must be in token or codesystem|code format.</p>
    </div></td></tr><tr><td>IN</td><td>testIdentifiers</td><td/><td>0..*</td><td><a href="http://hl7.org/fhir/R4/datatypes.html#string">string</a><br/>(<a href="https://hl7.org/fhir/R4/search.html#token">token</a>)</td><td/><td><div><p>Supply a list of test identifiers. Only results originating from one of these tests will be returned.</p>
    </div></td></tr><tr><td>IN</td><td>testDateRange</td><td/><td>0..1</td><td><a href="http://hl7.org/fhir/R4/datatypes.html#Period">Period</a></td><td/><td><div><p>Supply a date range. Only results generated during this range will be returned.</p>
    </div></td></tr><tr><td>IN</td><td>specimenIdentifiers</td><td/><td>0..*</td><td><a href="http://hl7.org/fhir/R4/datatypes.html#string">string</a><br/>(<a href="https://hl7.org/fhir/R4/search.html#token">token</a>)</td><td/><td><div><p>Supply a list of specimen identifiers. Only results derived from one of these specimens will be returned.</p>
    </div></td></tr><tr><td>IN</td><td>genomicSourceClass</td><td/><td>0..1</td><td><a href="http://hl7.org/fhir/R4/datatypes.html#string">string</a><br/>(<a href="https://hl7.org/fhir/R4/search.html#token">token</a>)</td><td/><td><div><p>Enables an App to limit results to those that are 'germline' or 'somatic'. Default is to include haplotypes irrespective of genomic source class.</p>
    </div></td></tr><tr><td>OUT</td><td>haplotypes</td><td/><td>1..*</td><td/><td/><td><div><p>(one for each gene in geneList)</p>
    </div></td></tr><tr><td>OUT</td><td>haplotypes.geneItem</td><td/><td>1..1</td><td><a href="http://hl7.org/fhir/R4/datatypes.html#string">string</a></td><td/><td><div><p>gene from geneList</p>
    </div></td></tr><tr><td>OUT</td><td>haplotypes.haplotype</td><td/><td>0..*</td><td><a href="http://hl7.org/fhir/R4/observation.html">Observation</a></td><td/><td><div><p>Haplotypes must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype].</p>
    </div></td></tr><tr><td>OUT</td><td>haplotypes.genotype</td><td/><td>0..*</td><td><a href="http://hl7.org/fhir/R4/observation.html">Observation</a></td><td/><td><div><p>Genotypes must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype].</p>
    </div></td></tr></table></div>
      </text>
      <extension
                 url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg">
        <valueCode value="cg"/>
      </extension>
      <extension
                 url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm">
        <valueInteger value="2">
          <extension
                     url="http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom">
            <valueCanonical
                            value="http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"/>
          </extension>
        </valueInteger>
      </extension>
      <extension
                 url="http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status">
        <valueCode value="trial-use">
          <extension
                     url="http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom">
            <valueCanonical
                            value="http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"/>
          </extension>
        </valueCode>
      </extension>
      <url
           value="http://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-subject-haplotypes"/>
      <version value="4.0.0-cibuild"/>
      <name value="FindSubjectHaplotypes"/>
      <title value="Find Subject Haplotypes"/>
      <status value="active"/>
      <kind value="operation"/>
      <date value="2025-11-08T00:09:50+00:00"/>
      <publisher value="HL7 International / Clinical Genomics"/>
      <contact>
        <name value="HL7 International / Clinical Genomics"/>
        <telecom>
          <system value="url"/>
          <value value="http://www.hl7.org/Special/committees/clingenomics"/>
        </telecom>
        <telecom>
          <system value="email"/>
          <value value="cg@lists.HL7.org"/>
        </telecom>
      </contact>
      <description value="Retrieve haplotypes/genotypes for specified genes."/>
      <jurisdiction>
        <coding>
          <system value="http://unstats.un.org/unsd/methods/m49/m49.htm"/>
          <code value="001"/>
          <display value="World"/>
        </coding>
      </jurisdiction>
      <code value="match"/>
      <system value="false"/>
      <type value="true"/>
      <instance value="false"/>
      <parameter>
        <name value="subject"/>
        <use value="in"/>
        <min value="1"/>
        <max value="1"/>
        <documentation value="The subject of interest."/>
        <type value="string"/>
        <searchType value="reference"/>
      </parameter>
      <parameter>
        <name value="genes"/>
        <use value="in"/>
        <min value="1"/>
        <max value="*"/>
        <documentation
                       value="List of genes to be searched. Must be in token or codesystem|code format."/>
        <type value="string"/>
        <searchType value="token"/>
      </parameter>
      <parameter>
        <name value="testIdentifiers"/>
        <use value="in"/>
        <min value="0"/>
        <max value="*"/>
        <documentation
                       value="Supply a list of test identifiers. Only results originating from one of these tests will be returned."/>
        <type value="string"/>
        <searchType value="token"/>
      </parameter>
      <parameter>
        <name value="testDateRange"/>
        <use value="in"/>
        <min value="0"/>
        <max value="1"/>
        <documentation
                       value="Supply a date range. Only results generated during this range will be returned."/>
        <type value="Period"/>
      </parameter>
      <parameter>
        <name value="specimenIdentifiers"/>
        <use value="in"/>
        <min value="0"/>
        <max value="*"/>
        <documentation
                       value="Supply a list of specimen identifiers. Only results derived from one of these specimens will be returned."/>
        <type value="string"/>
        <searchType value="token"/>
      </parameter>
      <parameter>
        <name value="genomicSourceClass"/>
        <use value="in"/>
        <min value="0"/>
        <max value="1"/>
        <documentation
                       value="Enables an App to limit results to those that are 'germline' or 'somatic'. Default is to include haplotypes irrespective of genomic source class."/>
        <type value="string"/>
        <searchType value="token"/>
      </parameter>
      <parameter>
        <name value="haplotypes"/>
        <use value="out"/>
        <min value="1"/>
        <max value="*"/>
        <documentation value="(one for each gene in geneList)"/>
        <part>
          <name value="geneItem"/>
          <use value="out"/>
          <min value="1"/>
          <max value="1"/>
          <documentation value="gene from geneList"/>
          <type value="string"/>
        </part>
        <part>
          <extension
                     url="http://hl7.org/fhir/StructureDefinition/operationdefinition-profile">
            <valueUri
                      value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype"/>
          </extension>
          <name value="haplotype"/>
          <use value="out"/>
          <min value="0"/>
          <max value="*"/>
          <documentation
                         value="Haplotypes must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype]."/>
          <type value="Observation"/>
        </part>
        <part>
          <extension
                     url="http://hl7.org/fhir/StructureDefinition/operationdefinition-profile">
            <valueUri
                      value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"/>
          </extension>
          <name value="genotype"/>
          <use value="out"/>
          <min value="0"/>
          <max value="*"/>
          <documentation
                         value="Genotypes must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype]."/>
          <type value="Observation"/>
        </part>
      </parameter>
    </OperationDefinition>