This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions
: DNA Change Type Map - XML Representation
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<ConceptMap xmlns="http://hl7.org/fhir">
<id value="dna-change-type-map"/>
<text>
<status value="extensions"/>
<div xmlns="http://www.w3.org/1999/xhtml"><p>Mapping from http://loinc.org/vs/LL379-9 to http://sequenceontology.org</p><p>DRAFT. Published on 2023-12-18 22:45:59+0000 by HL7 International / Clinical Genomics (HL7 International / Clinical Genomics: <a href="http://www.hl7.org/Special/committees/clingenomics">http://www.hl7.org/Special/com...</a>, <a href="mailto:cg@lists.HL7.org">cg@lists.HL7.org</a>). 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.</p><div><p>LOINC and SequenceOntology mappings for dna change type</p>
</div><br/><p><b>Group 1</b>Mapping from <a href="http://terminology.hl7.org/5.3.0/CodeSystem-v3-loinc.html">Logical Observation Identifiers, Names and Codes (LOINC)</a> to <code>http://sequenceontology.org</code></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/R4/codesystem-concept-map-equivalence.html#null"/></td><td>SO:0002073 (no_sequence_alteration)</td></tr><tr><td>LA6692-3 (Deletion)</td><td><a href="http://hl7.org/fhir/R4/codesystem-concept-map-equivalence.html#null"/></td><td>SO:0000159 (deletion)</td></tr><tr><td>LA6686-5 (Duplication)</td><td><a href="http://hl7.org/fhir/R4/codesystem-concept-map-equivalence.html#null"/></td><td>SO:1000035 (duplication)</td></tr><tr><td>LA6687-3 (Insertion)</td><td><a href="http://hl7.org/fhir/R4/codesystem-concept-map-equivalence.html#null"/></td><td>SO:0000667 (insertion)</td></tr><tr><td>LA6688-1 (Insertion/Deletion)</td><td><a href="http://hl7.org/fhir/R4/codesystem-concept-map-equivalence.html#null"/></td><td>SO:1000032 (delins)</td></tr><tr><td>LA6689-9 (Inversion)</td><td><a href="http://hl7.org/fhir/R4/codesystem-concept-map-equivalence.html#null"/></td><td>SO:1000036 (inversion)</td></tr><tr><td>LA6690-7 (Substitution)</td><td><a href="http://hl7.org/fhir/R4/codesystem-concept-map-equivalence.html#null"/></td><td>SO:1000002 (substitution)</td></tr></table></div>
</text>
<extension
url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg">
<valueCode value="cg"/>
</extension>
<url
value="http://hl7.org/fhir/uv/genomics-reporting/ConceptMap/dna-change-type-map"/>
<version value="3.0.0-ballot"/>
<name value="DNAChangeType"/>
<title value="DNA Change Type Map"/>
<status value="draft"/>
<experimental value="false"/>
<date value="2023-12-18T22:45:59+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://sequenceontology.org"/>
<group>
<source value="http://loinc.org"/>
<target value="http://sequenceontology.org"/>
<element>
<code value="LA9658-1"/>
<display value="Wild type"/>
<target>
<modifierExtension
url="http://hl7.org/fhir/1.0/StructureDefinition/extension-ConceptMap.element.target.equivalence">
<valueCode value="equivalent"/>
</modifierExtension>
<code value="SO:0002073"/>
<display value="no_sequence_alteration"/>
<equivalence value="equivalent"/>
</target>
</element>
<element>
<code value="LA6692-3"/>
<display value="Deletion"/>
<target>
<modifierExtension
url="http://hl7.org/fhir/1.0/StructureDefinition/extension-ConceptMap.element.target.equivalence">
<valueCode value="equivalent"/>
</modifierExtension>
<code value="SO:0000159"/>
<display value="deletion"/>
<equivalence value="equivalent"/>
</target>
</element>
<element>
<code value="LA6686-5"/>
<display value="Duplication"/>
<target>
<modifierExtension
url="http://hl7.org/fhir/1.0/StructureDefinition/extension-ConceptMap.element.target.equivalence">
<valueCode value="equivalent"/>
</modifierExtension>
<code value="SO:1000035"/>
<display value="duplication"/>
<equivalence value="equivalent"/>
</target>
</element>
<element>
<code value="LA6687-3"/>
<display value="Insertion"/>
<target>
<modifierExtension
url="http://hl7.org/fhir/1.0/StructureDefinition/extension-ConceptMap.element.target.equivalence">
<valueCode value="equivalent"/>
</modifierExtension>
<code value="SO:0000667"/>
<display value="insertion"/>
<equivalence value="equivalent"/>
</target>
</element>
<element>
<code value="LA6688-1"/>
<display value="Insertion/Deletion"/>
<target>
<modifierExtension
url="http://hl7.org/fhir/1.0/StructureDefinition/extension-ConceptMap.element.target.equivalence">
<valueCode value="equivalent"/>
</modifierExtension>
<code value="SO:1000032"/>
<display value="delins"/>
<equivalence value="equivalent"/>
</target>
</element>
<element>
<code value="LA6689-9"/>
<display value="Inversion"/>
<target>
<modifierExtension
url="http://hl7.org/fhir/1.0/StructureDefinition/extension-ConceptMap.element.target.equivalence">
<valueCode value="equivalent"/>
</modifierExtension>
<code value="SO:1000036"/>
<display value="inversion"/>
<equivalence value="equivalent"/>
</target>
</element>
<element>
<code value="LA6690-7"/>
<display value="Substitution"/>
<target>
<modifierExtension
url="http://hl7.org/fhir/1.0/StructureDefinition/extension-ConceptMap.element.target.equivalence">
<valueCode value="equivalent"/>
</modifierExtension>
<code value="SO:1000002"/>
<display value="substitution"/>
<equivalence value="equivalent"/>
</target>
</element>
</group>
</ConceptMap>
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