This page is part of the Genetic Reporting Implementation Guide (v1.0.0: STU 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

Concept mapping for DNA Change Type - XML Representation

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Raw xml

<ConceptMap xmlns="http://hl7.org/fhir">
  <id value="dna-change-type"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><h2>DNAChangeType (http://hl7.org/fhir/uv/genomics-reporting/ConceptMap/dna-change-type)</h2><p>Mapping from http://loinc.org to http://www.sequenceontology.org</p><p>DRAFT (not intended for production usage). Published on Oct 4, 2019 12:00:00 AM by HL7 (Clinical Genomics) (). </p><div><p>LOINC and SequenceOntology mappings for dna change type</p>
</div><br/><table class="grid"><tr><td><b>Source Code</b></td><td><b>Relationship</b></td><td><b>Destination Code</b></td></tr><tr><td>LA9658-1 (Wild type)</td><td>equivalent</td><td>SO:0002073</td></tr><tr><td>LA6692-3 (Deletion)</td><td>equivalent</td><td>SO:0000159</td></tr><tr><td>LA6686-5 (Duplication)</td><td>equivalent</td><td>SO:1000035</td></tr><tr><td>LA6687-3 (Insertion)</td><td>equivalent</td><td>SO:0000667</td></tr><tr><td>LA6688-1 (Insertion/Deletion)</td><td>equivalent</td><td>SO:1000032</td></tr><tr><td>LA6689-9 (Inversion)</td><td>equivalent</td><td>SO:1000036</td></tr><tr><td>LA6690-7 (Substitution)</td><td>equivalent</td><td>SO:1000002</td></tr></table></div>
  </text>
  <url
       value="http://hl7.org/fhir/uv/genomics-reporting/ConceptMap/dna-change-type"/>
  <version value="1.0.0"/>
  <name value="DNAChangeType"/>
  <status value="draft"/>
  <experimental value="true"/>
  <date value="2019-10-04T00:00:00-04:00"/>
  <publisher value="HL7 (Clinical Genomics)"/>
  <contact>
    <telecom>
      <system value="other"/>
      <value value="https://confluence.hl7.org/display/CGW/WorkGroup+Home"/>
    </telecom>
  </contact>
  <description value="LOINC and SequenceOntology mappings for dna change type"/>
  <sourceCanonical value="http://loinc.org"/>
  <targetCanonical value="http://www.sequenceontology.org"/>
  <group>
    <source value="http://loinc.org"/>
    <target value="http://www.sequenceontology.org"/>
    <element>
      <code value="LA9658-1"/>
      <display value="Wild type"/>
      <target>
        <code value="SO:0002073"/>
        <display value="no_sequence_alteration"/>
        <equivalence value="equivalent"/>
      </target>
    </element>
    <element>
      <code value="LA6692-3"/>
      <display value="Deletion"/>
      <target>
        <code value="SO:0000159"/>
        <display value="deletion"/>
        <equivalence value="equivalent"/>
      </target>
    </element>
    <element>
      <code value="LA6686-5"/>
      <display value="Duplication"/>
      <target>
        <code value="SO:1000035"/>
        <display value="duplication"/>
        <equivalence value="equivalent"/>
      </target>
    </element>
    <element>
      <code value="LA6687-3"/>
      <display value="Insertion"/>
      <target>
        <code value="SO:0000667"/>
        <display value="insertion"/>
        <equivalence value="equivalent"/>
      </target>
    </element>
    <element>
      <code value="LA6688-1"/>
      <display value="Insertion/Deletion"/>
      <target>
        <code value="SO:1000032"/>
        <display value="delins"/>
        <equivalence value="equivalent"/>
      </target>
    </element>
    <element>
      <code value="LA6689-9"/>
      <display value="Inversion"/>
      <target>
        <code value="SO:1000036"/>
        <display value="inversion"/>
        <equivalence value="equivalent"/>
      </target>
    </element>
    <element>
      <code value="LA6690-7"/>
      <display value="Substitution"/>
      <target>
        <code value="SO:1000002"/>
        <display value="substitution"/>
        <equivalence value="equivalent"/>
      </target>
    </element>
  </group>
</ConceptMap>