Resource ConceptMap/FHIR Server from package hl7.fhir.uv.genomics-reporting#current (62 ms)

Resources that use this resource

No resources found

Resources that this resource uses

CodeSystem
http://loinc.org	LOINC Code System
http://www.sequenceontology.org	Sequence Ontology
http://loinc.org	LOINC codes used in this IG
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs	DNA Change Type

Narrative

Note: links and images are rebased to the (stated) source

Source

{
  "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><a name=\"dna-change-type-map-en-US\"> </a><p>Mapping from http://loinc.org/vs/LL379-9 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/6.1.0/CodeSystem-v3-loinc.html\">Logical Observation Identifiers, Names and Codes (LOINC)</a> to <a href=\"http://terminology.hl7.org/6.1.0/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/extensions/5.1.0/CodeSystem-concept-map-equivalence.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/extensions/5.1.0/CodeSystem-concept-map-equivalence.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/extensions/5.1.0/CodeSystem-concept-map-equivalence.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/extensions/5.1.0/CodeSystem-concept-map-equivalence.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/extensions/5.1.0/CodeSystem-concept-map-equivalence.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/extensions/5.1.0/CodeSystem-concept-map-equivalence.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/extensions/5.1.0/CodeSystem-concept-map-equivalence.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/uv/genomics-reporting/ConceptMap/dna-change-type-map",
  "version" : "3.0.0",
  "name" : "DNAChangeType",
  "title" : "DNA Change Type Map",
  "status" : "draft",
  "experimental" : false,
  "date" : "2024-12-12T20:13:16+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"
            }
          ]
        }
      ]
    }
  ]
}

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