{
  "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/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>"
  },
  "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" : "2026-11-02T21:42:53+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"
      }]
    }]
  }]
}