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

## : DNA Change Type Map - XML Representation

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

Raw xml | Download

    <ConceptMap xmlns="http://hl7.org/fhir">
      <id value="dna-change-type-map"/>
      <text>
        <status value="generated"/>
        <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: ConceptMap dna-change-type-map</b></p><a name="dna-change-type-map"> </a><a name="hcdna-change-type-map"> </a><p>Mapping from <a href="https://loinc.org/LLLL379-9">LOINC Answer Codes for LL379-9</a> to <a href="ValueSet-dna-change-type-vs.html">DNA Change Type</a></p><br/><p><b>Group 1 </b>Mapping from <a href="http://terminology.hl7.org/6.5.0/CodeSystem-v3-loinc.html">Logical Observation Identifiers, Names and Codes (LOINC)</a> to <a href="http://terminology.hl7.org/6.5.0/CodeSystem-SO.html">Sequence Ontology</a></p><table class="grid"><tr><td><b>Source Code</b></td><td><b>Relationship</b></td><td><b>Target Code</b></td></tr><tr><td>LA9658-1 (Wild type)</td><td><a href="http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#equivalent" title="equivalent">is equivalent to</a></td><td>SO:0002073 (no_sequence_alteration)</td></tr><tr><td>LA6692-3 (Deletion)</td><td><a href="http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#equivalent" title="equivalent">is equivalent to</a></td><td>SO:0000159 (deletion)</td></tr><tr><td>LA6686-5 (Duplication)</td><td><a href="http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#equivalent" title="equivalent">is equivalent to</a></td><td>SO:1000035 (duplication)</td></tr><tr><td>LA6687-3 (Insertion)</td><td><a href="http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#equivalent" title="equivalent">is equivalent to</a></td><td>SO:0000667 (insertion)</td></tr><tr><td>LA6688-1 (Insertion/Deletion)</td><td><a href="http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#equivalent" title="equivalent">is equivalent to</a></td><td>SO:1000032 (delins)</td></tr><tr><td>LA6689-9 (Inversion)</td><td><a href="http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#equivalent" title="equivalent">is equivalent to</a></td><td>SO:1000036 (inversion)</td></tr><tr><td>LA6690-7 (Substitution)</td><td><a href="http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#equivalent" title="equivalent">is equivalent to</a></td><td>SO:1000002 (substitution)</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/ConceptMap/dna-change-type-map"/>
      <version value="4.0.0-cibuild"/>
      <name value="DNAChangeType"/>
      <title value="DNA Change Type Map"/>
      <status value="active"/>
      <experimental value="false"/>
      <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="LOINC and SequenceOntology mappings for DNA change type"/>
      <jurisdiction>
        <coding>
          <system value="http://unstats.un.org/unsd/methods/m49/m49.htm"/>
          <code value="001"/>
          <display value="World"/>
        </coding>
      </jurisdiction>
      <copyright
                 value="This material contains content from LOINC (http://loinc.org). LOINC is copyright © 1995-2020, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license. LOINC® is a registered United States trademark of Regenstrief Institute, Inc."/>
      <sourceCanonical value="http://loinc.org/vs/LL379-9"/>
      <targetCanonical
                       value="http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs"/>
      <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>