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 - TTL Representation

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

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    @prefix fhir: <http://hl7.org/fhir/> .
    @prefix owl: <http://www.w3.org/2002/07/owl#> .
    @prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
    @prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
    @prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

    # - resource -------------------------------------------------------------------

     a fhir:ConceptMap ;
      fhir:nodeRole fhir:treeRoot ;
      fhir:id [ fhir:v "dna-change-type-map"] ; #
      fhir:text [
    fhir:status [ fhir:v "generated" ] ;
    fhir:div [ fhir:v "<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>"^^rdf:XMLLiteral ]
      ] ; #
      fhir:extension ( [
    fhir:url [
    fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/StructureDefinition/structuredefinition-wg>     ] ;
    fhir:value [
    a fhir:Code ;
    fhir:v "cg"     ]
      ] [
    fhir:url [
    fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm>     ] ;
    fhir:value [
    a fhir:Integer ;
    fhir:v 2 ;
          ( fhir:extension [
    fhir:url [
    fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom>         ] ;
    fhir:value [
    a fhir:Canonical ;
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting>         ]       ] )     ]
      ] [
    fhir:url [
    fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status>     ] ;
    fhir:value [
    a fhir:Code ;
    fhir:v "trial-use" ;
          ( fhir:extension [
    fhir:url [
    fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom>         ] ;
    fhir:value [
    a fhir:Canonical ;
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting>         ]       ] )     ]
      ] ) ; #
      fhir:url [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/ConceptMap/dna-change-type-map"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/ConceptMap/dna-change-type-map>
      ] ; #
      fhir:version [ fhir:v "4.0.0-cibuild"] ; #
      fhir:name [ fhir:v "DNAChangeType"] ; #
      fhir:title [ fhir:v "DNA Change Type Map"] ; #
      fhir:status [ fhir:v "active"] ; #
      fhir:experimental [ fhir:v false] ; #
      fhir:date [ fhir:v "2025-11-08T00:09:50+00:00"^^xsd:dateTime] ; #
      fhir:publisher [ fhir:v "HL7 International / Clinical Genomics"] ; #
      fhir:contact ( [
    fhir:name [ fhir:v "HL7 International / Clinical Genomics" ] ;
        ( fhir:telecom [
    fhir:system [ fhir:v "url" ] ;
    fhir:value [ fhir:v "http://www.hl7.org/Special/committees/clingenomics" ]     ] [
    fhir:system [ fhir:v "email" ] ;
    fhir:value [ fhir:v "cg@lists.HL7.org" ]     ] )
      ] ) ; #
      fhir:description [ fhir:v "LOINC and SequenceOntology mappings for DNA change type"] ; #
      fhir:jurisdiction ( [
        ( fhir:coding [
    fhir:system [
    fhir:v "http://unstats.un.org/unsd/methods/m49/m49.htm"^^xsd:anyURI ;
    fhir:l <http://unstats.un.org/unsd/methods/m49/m49.htm>       ] ;
    fhir:code [ fhir:v "001" ] ;
    fhir:display [ fhir:v "World" ]     ] )
      ] ) ; #
      fhir:copyright [ fhir:v "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."] ; #
      fhir:source [
    a fhir:Canonical ;
    fhir:v "http://loinc.org/vs/LL379-9"^^xsd:anyURI ;
    fhir:l <http://loinc.org/vs/LL379-9>
      ] ; #
      fhir:target [
    a fhir:Canonical ;
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs>
      ] ; #
      fhir:group ( [
    fhir:source [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>     ] ;
    fhir:target [
    fhir:v "http://www.sequenceontology.org"^^xsd:anyURI ;
    fhir:l <http://www.sequenceontology.org>     ] ;
        ( fhir:element [
    fhir:code [ fhir:v "LA9658-1" ] ;
    fhir:display [ fhir:v "Wild type" ] ;
          ( fhir:target [
    fhir:code [ fhir:v "SO:0002073" ] ;
    fhir:display [ fhir:v "no_sequence_alteration" ] ;
    fhir:equivalence [ fhir:v "equivalent" ]       ] )     ] [
    fhir:code [ fhir:v "LA6692-3" ] ;
    fhir:display [ fhir:v "Deletion" ] ;
          ( fhir:target [
    fhir:code [ fhir:v "SO:0000159" ] ;
    fhir:display [ fhir:v "deletion" ] ;
    fhir:equivalence [ fhir:v "equivalent" ]       ] )     ] [
    fhir:code [ fhir:v "LA6686-5" ] ;
    fhir:display [ fhir:v "Duplication" ] ;
          ( fhir:target [
    fhir:code [ fhir:v "SO:1000035" ] ;
    fhir:display [ fhir:v "duplication" ] ;
    fhir:equivalence [ fhir:v "equivalent" ]       ] )     ] [
    fhir:code [ fhir:v "LA6687-3" ] ;
    fhir:display [ fhir:v "Insertion" ] ;
          ( fhir:target [
    fhir:code [ fhir:v "SO:0000667" ] ;
    fhir:display [ fhir:v "insertion" ] ;
    fhir:equivalence [ fhir:v "equivalent" ]       ] )     ] [
    fhir:code [ fhir:v "LA6688-1" ] ;
    fhir:display [ fhir:v "Insertion/Deletion" ] ;
          ( fhir:target [
    fhir:code [ fhir:v "SO:1000032" ] ;
    fhir:display [ fhir:v "delins" ] ;
    fhir:equivalence [ fhir:v "equivalent" ]       ] )     ] [
    fhir:code [ fhir:v "LA6689-9" ] ;
    fhir:display [ fhir:v "Inversion" ] ;
          ( fhir:target [
    fhir:code [ fhir:v "SO:1000036" ] ;
    fhir:display [ fhir:v "inversion" ] ;
    fhir:equivalence [ fhir:v "equivalent" ]       ] )     ] [
    fhir:code [ fhir:v "LA6690-7" ] ;
    fhir:display [ fhir:v "Substitution" ] ;
          ( fhir:target [
    fhir:code [ fhir:v "SO:1000002" ] ;
    fhir:display [ fhir:v "substitution" ] ;
    fhir:equivalence [ fhir:v "equivalent" ]       ] )     ] )
      ] ) . #