Genomics Reporting Implementation Guide
2.0.0 - trial-use

This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version. For a full list of available versions, see the Directory of published versions

: DNA Change Type Map - TTL Representation

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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 -------------------------------------------------------------------

 a fhir:ConceptMap;
  fhir:nodeRole fhir:treeRoot;
  fhir:Resource.id [ fhir:value "dna-change-type-map"];
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "extensions" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><h2>DNAChangeType (http://hl7.org/fhir/uv/genomics-reporting/ConceptMap/dna-change-type-map)</h2><p>Mapping from http://loinc.org/vs/LL379-9 to http://sequenceontology.org</p><p>DRAFT. Published on 2022-05-09 04:59:16+0000 by HL7 Clinical Genomics Working Group (HL7 Clinical Genomics Working Group: <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>\n</div><br/><table class=\"grid\"><tr><td><b>Source Code</b></td><td><b>Relationship</b></td><td><b>Destination Code</b></td></tr><tr><td colspan=\"3\">Mapping from <a href=\"http://terminology.hl7.org/3.1.0/CodeSystem-v3-loinc.html\">Logical Observation Identifiers, Names and Codes (LOINC)</a> to <code>http://sequenceontology.org</code></td></tr><tr><td>LA9658-1 (Wild type)</td><td><a href=\"http://hl7.org/fhir/R4/codesystem-concept-map-equivalence.html#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#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#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#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#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#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#equivalent\">is equivalent to</a></td><td>SO:1000002 (substitution)</td></tr></table></div>"
  ];
  fhir:ConceptMap.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/ConceptMap/dna-change-type-map"];
  fhir:ConceptMap.version [ fhir:value "2.0.0"];
  fhir:ConceptMap.name [ fhir:value "DNAChangeType"];
  fhir:ConceptMap.status [ fhir:value "draft"];
  fhir:ConceptMap.date [ fhir:value "2022-05-09T16:59:16+00:00"^^xsd:dateTime];
  fhir:ConceptMap.publisher [ fhir:value "HL7 Clinical Genomics Working Group"];
  fhir:ConceptMap.contact [
     fhir:index 0;
     fhir:ContactDetail.name [ fhir:value "HL7 Clinical Genomics Working Group" ];
     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://sequenceontology.org";
     fhir:link <http://sequenceontology.org>
  ];
  fhir:ConceptMap.group [
     fhir:index 0;
     fhir:ConceptMap.group.source [ fhir:value "http://loinc.org" ];
     fhir:ConceptMap.group.target [ fhir:value "http://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 ------------------------------------------------------------

 a owl:Ontology;
  owl:imports fhir:fhir.ttl.