Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build International flag

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 rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

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

<http://hl7.org/fhir/ConceptMap/dna-change-type-map> a fhir:ConceptMap ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:Resource.id [ fhir:value "dna-change-type-map"] ;
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ] ;
     fhir:Narrative.div "<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/LL379-9\">LOINC Answer Codes for LL379-9</a> to <a href=\"ValueSet-dna-change-type-vs.html\">DNA Change Type</a></p><br/><p>Mapping from <code>http://loinc.org</code> (Logical Observation Identifier Names and Codes (LOINC)) to <code>http://www.sequenceontology.org</code> (Sequence Ontology)</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#concept-map-equivalence-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/R4/codesystem-concept-map-equivalence.html#concept-map-equivalence-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/R4/codesystem-concept-map-equivalence.html#concept-map-equivalence-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/R4/codesystem-concept-map-equivalence.html#concept-map-equivalence-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/R4/codesystem-concept-map-equivalence.html#concept-map-equivalence-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/R4/codesystem-concept-map-equivalence.html#concept-map-equivalence-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/R4/codesystem-concept-map-equivalence.html#concept-map-equivalence-equivalent\" title=\"equivalent\">is equivalent to</a></td><td>SO:1000002 (substitution)</td></tr></table></div>"
  ] ;
  fhir:DomainResource.extension [
     fhir:index 0 ;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg" ] ;
     fhir:Extension.valueCode [ fhir:value "cg" ]
  ], [
     fhir:index 1 ;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm" ] ;
     fhir:Extension.valueInteger [
       fhir:value "2"^^xsd:integer ;
       fhir:Element.extension [
         fhir:index 0 ;
         fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom" ] ;
         fhir:Extension.valueCanonical [
           fhir:value "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting" ;
           fhir:link <http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting>
         ]
       ]
     ]
  ], [
     fhir:index 2 ;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status" ] ;
     fhir:Extension.valueCode [
       fhir:value "trial-use" ;
       fhir:Element.extension [
         fhir:index 0 ;
         fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom" ] ;
         fhir:Extension.valueCanonical [
           fhir:value "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting" ;
           fhir:link <http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting>
         ]
       ]
     ]
  ] ;
  fhir:ConceptMap.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/ConceptMap/dna-change-type-map"] ;
  fhir:ConceptMap.version [ fhir:value "4.0.0-cibuild"] ;
  fhir:ConceptMap.name [ fhir:value "DNAChangeType"] ;
  fhir:ConceptMap.title [ fhir:value "DNA Change Type Map"] ;
  fhir:ConceptMap.status [ fhir:value "active"] ;
  fhir:ConceptMap.experimental [ fhir:value "false"^^xsd:boolean] ;
  fhir:ConceptMap.date [ fhir:value "2026-09-21T13:24:35+00:00"^^xsd:dateTime] ;
  fhir:ConceptMap.publisher [ fhir:value "HL7 International / Clinical Genomics"] ;
  fhir:ConceptMap.contact [
     fhir:index 0 ;
     fhir:ContactDetail.name [ fhir:value "HL7 International / Clinical Genomics" ] ;
     fhir:ContactDetail.telecom [
       fhir:index 0 ;
       fhir:ContactPoint.system [ fhir:value "url" ] ;
       fhir:ContactPoint.value [ fhir:value "http://www.hl7.org/Special/committees/clingenomics" ]
     ], [
       fhir:index 1 ;
       fhir:ContactPoint.system [ fhir:value "email" ] ;
       fhir:ContactPoint.value [ fhir:value "cg@lists.HL7.org" ]
     ]
  ] ;
  fhir:ConceptMap.description [ fhir:value "LOINC and SequenceOntology mappings for DNA change type"] ;
  fhir:ConceptMap.jurisdiction [
     fhir:index 0 ;
     fhir:CodeableConcept.coding [
       fhir:index 0 ;
       fhir:Coding.system [ fhir:value "http://unstats.un.org/unsd/methods/m49/m49.htm" ] ;
       fhir:Coding.code [ fhir:value "001" ] ;
       fhir:Coding.display [ fhir:value "World" ]
     ]
  ] ;
  fhir:ConceptMap.copyright [ fhir: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."] ;
  fhir:ConceptMap.sourceCanonical [
     fhir:value "http://loinc.org/vs/LL379-9" ;
     fhir:link <http://loinc.org/vs/LL379-9>
  ] ;
  fhir:ConceptMap.targetCanonical [
     fhir:value "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs" ;
     fhir:link <http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs>
  ] ;
  fhir:ConceptMap.group [
     fhir:index 0 ;
     fhir:ConceptMap.group.source [ fhir:value "http://loinc.org" ] ;
     fhir:ConceptMap.group.target [ fhir:value "http://www.sequenceontology.org" ] ;
     fhir:ConceptMap.group.element [
       fhir:index 0 ;
       fhir:ConceptMap.group.element.code [ fhir:value "LA9658-1" ] ;
       fhir:ConceptMap.group.element.display [ fhir:value "Wild type" ] ;
       fhir:ConceptMap.group.element.target [
         fhir:index 0 ;
         fhir:ConceptMap.group.element.target.code [ fhir:value "SO:0002073" ] ;
         fhir:ConceptMap.group.element.target.display [ fhir:value "no_sequence_alteration" ] ;
         fhir:ConceptMap.group.element.target.equivalence [ fhir:value "equivalent" ]
       ]
     ], [
       fhir:index 1 ;
       fhir:ConceptMap.group.element.code [ fhir:value "LA6692-3" ] ;
       fhir:ConceptMap.group.element.display [ fhir:value "Deletion" ] ;
       fhir:ConceptMap.group.element.target [
         fhir:index 0 ;
         fhir:ConceptMap.group.element.target.code [ fhir:value "SO:0000159" ] ;
         fhir:ConceptMap.group.element.target.display [ fhir:value "deletion" ] ;
         fhir:ConceptMap.group.element.target.equivalence [ fhir:value "equivalent" ]
       ]
     ], [
       fhir:index 2 ;
       fhir:ConceptMap.group.element.code [ fhir:value "LA6686-5" ] ;
       fhir:ConceptMap.group.element.display [ fhir:value "Duplication" ] ;
       fhir:ConceptMap.group.element.target [
         fhir:index 0 ;
         fhir:ConceptMap.group.element.target.code [ fhir:value "SO:1000035" ] ;
         fhir:ConceptMap.group.element.target.display [ fhir:value "duplication" ] ;
         fhir:ConceptMap.group.element.target.equivalence [ fhir:value "equivalent" ]
       ]
     ], [
       fhir:index 3 ;
       fhir:ConceptMap.group.element.code [ fhir:value "LA6687-3" ] ;
       fhir:ConceptMap.group.element.display [ fhir:value "Insertion" ] ;
       fhir:ConceptMap.group.element.target [
         fhir:index 0 ;
         fhir:ConceptMap.group.element.target.code [ fhir:value "SO:0000667" ] ;
         fhir:ConceptMap.group.element.target.display [ fhir:value "insertion" ] ;
         fhir:ConceptMap.group.element.target.equivalence [ fhir:value "equivalent" ]
       ]
     ], [
       fhir:index 4 ;
       fhir:ConceptMap.group.element.code [ fhir:value "LA6688-1" ] ;
       fhir:ConceptMap.group.element.display [ fhir:value "Insertion/Deletion" ] ;
       fhir:ConceptMap.group.element.target [
         fhir:index 0 ;
         fhir:ConceptMap.group.element.target.code [ fhir:value "SO:1000032" ] ;
         fhir:ConceptMap.group.element.target.display [ fhir:value "delins" ] ;
         fhir:ConceptMap.group.element.target.equivalence [ fhir:value "equivalent" ]
       ]
     ], [
       fhir:index 5 ;
       fhir:ConceptMap.group.element.code [ fhir:value "LA6689-9" ] ;
       fhir:ConceptMap.group.element.display [ fhir:value "Inversion" ] ;
       fhir:ConceptMap.group.element.target [
         fhir:index 0 ;
         fhir:ConceptMap.group.element.target.code [ fhir:value "SO:1000036" ] ;
         fhir:ConceptMap.group.element.target.display [ fhir:value "inversion" ] ;
         fhir:ConceptMap.group.element.target.equivalence [ fhir:value "equivalent" ]
       ]
     ], [
       fhir:index 6 ;
       fhir:ConceptMap.group.element.code [ fhir:value "LA6690-7" ] ;
       fhir:ConceptMap.group.element.display [ fhir:value "Substitution" ] ;
       fhir:ConceptMap.group.element.target [
         fhir:index 0 ;
         fhir:ConceptMap.group.element.target.code [ fhir:value "SO:1000002" ] ;
         fhir:ConceptMap.group.element.target.display [ fhir:value "substitution" ] ;
         fhir:ConceptMap.group.element.target.equivalence [ fhir:value "equivalent" ]
       ]
     ]
  ] .

# - ontology header ------------------------------------------------------------

<http://hl7.org/fhir/ConceptMap/dna-change-type-map.ttl> a owl:Ontology ;
  owl:imports fhir:fhir.ttl ;
  owl:versionIRI <http://build.fhir.org/ConceptMap/dna-change-type-map.ttl> .