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 - JSON Representation

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Raw json

{
  "resourceType" : "ConceptMap",
  "id" : "dna-change-type",
  "text" : {
    "status" : "generated",
    "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>"
  },
  "url" : "http://hl7.org/fhir/uv/genomics-reporting/ConceptMap/dna-change-type",
  "version" : "1.0.0",
  "name" : "DNAChangeType",
  "status" : "draft",
  "experimental" : true,
  "date" : "2019-10-04T00:00:00-04:00",
  "publisher" : "HL7 (Clinical Genomics)",
  "contact" : [
    {
      "telecom" : [
        {
          "system" : "other",
          "value" : "https://confluence.hl7.org/display/CGW/WorkGroup+Home"
        }
      ]
    }
  ],
  "description" : "LOINC and SequenceOntology mappings for dna change type",
  "sourceCanonical" : "http://loinc.org",
  "targetCanonical" : "http://www.sequenceontology.org",
  "group" : [
    {
      "source" : "http://loinc.org",
      "target" : "http://www.sequenceontology.org",
      "element" : [
        {
          "code" : "LA9658-1",
          "display" : "Wild type",
          "target" : [
            {
              "code" : "SO:0002073",
              "display" : "no_sequence_alteration",
              "equivalence" : "equivalent"
            }
          ]
        },
        {
          "code" : "LA6692-3",
          "display" : "Deletion",
          "target" : [
            {
              "code" : "SO:0000159",
              "display" : "deletion",
              "equivalence" : "equivalent"
            }
          ]
        },
        {
          "code" : "LA6686-5",
          "display" : "Duplication",
          "target" : [
            {
              "code" : "SO:1000035",
              "display" : "duplication",
              "equivalence" : "equivalent"
            }
          ]
        },
        {
          "code" : "LA6687-3",
          "display" : "Insertion",
          "target" : [
            {
              "code" : "SO:0000667",
              "display" : "insertion",
              "equivalence" : "equivalent"
            }
          ]
        },
        {
          "code" : "LA6688-1",
          "display" : "Insertion/Deletion",
          "target" : [
            {
              "code" : "SO:1000032",
              "display" : "delins",
              "equivalence" : "equivalent"
            }
          ]
        },
        {
          "code" : "LA6689-9",
          "display" : "Inversion",
          "target" : [
            {
              "code" : "SO:1000036",
              "display" : "inversion",
              "equivalence" : "equivalent"
            }
          ]
        },
        {
          "code" : "LA6690-7",
          "display" : "Substitution",
          "target" : [
            {
              "code" : "SO:1000002",
              "display" : "substitution",
              "equivalence" : "equivalent"
            }
          ]
        }
      ]
    }
  ]
}