{
  "resourceType": "ConceptMap",
  "id": "dna-change-type",
  "meta": {
    "lastUpdated": "2019-12-20T21:26:14.149+00:00"
  },
  "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></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+00:00",
  "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"
            }
          ]
        }
      ]
    }
  ]
}