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 - JSON Representation

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

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    {
      "resourceType" : "ConceptMap",
      "id" : "dna-change-type-map",
      "text" : {
        "status" : "generated",
        "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/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>"
      },
      "extension" : [
        {
          "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
          "valueCode" : "cg"
        },
        {
          "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm",
          "valueInteger" : 2,
          "_valueInteger" : {
            "extension" : [
              {
                "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom",
                "valueCanonical" : "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"
              }
            ]
          }
        },
        {
          "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
          "valueCode" : "trial-use",
          "_valueCode" : {
            "extension" : [
              {
                "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom",
                "valueCanonical" : "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"
              }
            ]
          }
        }
      ],
      "url" : "http://hl7.org/fhir/uv/genomics-reporting/ConceptMap/dna-change-type-map",
      "version" : "4.0.0-cibuild",
      "name" : "DNAChangeType",
      "title" : "DNA Change Type Map",
      "status" : "active",
      "experimental" : false,
      "date" : "2025-11-08T00:09:50+00:00",
      "publisher" : "HL7 International / Clinical Genomics",
      "contact" : [
        {
          "name" : "HL7 International / Clinical Genomics",
          "telecom" : [
            {
              "system" : "url",
              "value" : "http://www.hl7.org/Special/committees/clingenomics"
            },
            {
              "system" : "email",
              "value" : "cg@lists.HL7.org"
            }
          ]
        }
      ],
      "description" : "LOINC and SequenceOntology mappings for DNA change type",
      "jurisdiction" : [
        {
          "coding" : [
            {
              "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
              "code" : "001",
              "display" : "World"
            }
          ]
        }
      ],
      "copyright" : "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.",
      "sourceCanonical" : "http://loinc.org/vs/LL379-9",
      "targetCanonical" : "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs",
      "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"
                }
              ]
            }
          ]
        }
      ]
    }