Genomics Reporting Implementation Guide
3.0.0 - release
Genomics Reporting Implementation Guide
3.0.0 - release
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
| Draft as of 2024-11-19 |
<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><a name="dna-change-type-map-en-US"> </a><p>Mapping from http://loinc.org/vs/LL379-9 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/6.1.0/CodeSystem-v3-loinc.html">Logical Observation Identifiers, Names and Codes (LOINC)</a> to <a href="http://terminology.hl7.org/6.1.0/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/extensions/5.1.0/CodeSystem-concept-map-equivalence.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/extensions/5.1.0/CodeSystem-concept-map-equivalence.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/extensions/5.1.0/CodeSystem-concept-map-equivalence.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/extensions/5.1.0/CodeSystem-concept-map-equivalence.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/extensions/5.1.0/CodeSystem-concept-map-equivalence.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/extensions/5.1.0/CodeSystem-concept-map-equivalence.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/extensions/5.1.0/CodeSystem-concept-map-equivalence.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>
<url
value="http://hl7.org/fhir/uv/genomics-reporting/ConceptMap/dna-change-type-map"/>
<version value="3.0.0"/>
<name value="DNAChangeType"/>
<title value="DNA Change Type Map"/>
<status value="draft"/>
<experimental value="false"/>
<date value="2024-11-19T22:01:39+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>
IG © 2022+ HL7 International / Clinical Genomics. Package hl7.fhir.uv.genomics-reporting#3.0.0 based on FHIR 4.0.1. Generated 2024-11-19
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