This page is part of the Genetic Reporting Implementation Guide (v1.0.0: STU 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

Concept mapping for DNA Change Type - TTL Representation

(back to narrative)

Raw ttl

@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"];
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><h2>DNAChangeType (http://hl7.org/fhir/uv/genomics-reporting/ConceptMap/dna-change-type)</h2><p>Mapping from http://loinc.org to http://www.sequenceontology.org</p><p>DRAFT (not intended for production usage). Published on Oct 4, 2019 12:00:00 AM by HL7 (Clinical Genomics) (). </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>LA9658-1 (Wild type)</td><td>equivalent</td><td>SO:0002073</td></tr><tr><td>LA6692-3 (Deletion)</td><td>equivalent</td><td>SO:0000159</td></tr><tr><td>LA6686-5 (Duplication)</td><td>equivalent</td><td>SO:1000035</td></tr><tr><td>LA6687-3 (Insertion)</td><td>equivalent</td><td>SO:0000667</td></tr><tr><td>LA6688-1 (Insertion/Deletion)</td><td>equivalent</td><td>SO:1000032</td></tr><tr><td>LA6689-9 (Inversion)</td><td>equivalent</td><td>SO:1000036</td></tr><tr><td>LA6690-7 (Substitution)</td><td>equivalent</td><td>SO:1000002</td></tr></table></div>"
  ];
  fhir:ConceptMap.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/ConceptMap/dna-change-type"];
  fhir:ConceptMap.version [ fhir:value "1.0.0"];
  fhir:ConceptMap.name [ fhir:value "DNAChangeType"];
  fhir:ConceptMap.status [ fhir:value "draft"];
  fhir:ConceptMap.experimental [ fhir:value "true"^^xsd:boolean];
  fhir:ConceptMap.date [ fhir:value "2019-10-04T00:00:00-04:00"^^xsd:dateTime];
  fhir:ConceptMap.publisher [ fhir:value "HL7 (Clinical Genomics)"];
  fhir:ConceptMap.contact [
     fhir:index 0;
     fhir:ContactDetail.telecom [
       fhir:index 0;
       fhir:ContactPoint.system [ fhir:value "other" ];
       fhir:ContactPoint.value [ fhir:value "https://confluence.hl7.org/display/CGW/WorkGroup+Home" ]     ]
  ];
  fhir:ConceptMap.description [ fhir:value "LOINC and SequenceOntology mappings for dna change type"];
  fhir:ConceptMap.sourceCanonical [
     fhir:value "http://loinc.org";
     fhir:link <http://loinc.org>
  ];
  fhir:ConceptMap.targetCanonical [
     fhir:value "http://www.sequenceontology.org";
     fhir:link <http://www.sequenceontology.org>
  ];
  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 ------------------------------------------------------------

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