Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

: Genomic Study Change Type CodeSystem - JSON Representation

Active as of 2023-12-18

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{
  "resourceType" : "CodeSystem",
  "id" : "genomic-study-change-type-cs",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p>This case-sensitive code system <code>http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-change-type-cs</code> defines the following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td></tr><tr><td style=\"white-space:nowrap\">DNA<a name=\"genomic-study-change-type-cs-DNA\"> </a></td><td>DNA change</td><td>Change that involves Deoxyribonucleic acid (DNA) sequences.</td></tr><tr><td style=\"white-space:nowrap\">RNA<a name=\"genomic-study-change-type-cs-RNA\"> </a></td><td>RNA change</td><td>Change that involves Ribonucleic Acid (RNA) sequences.</td></tr><tr><td style=\"white-space:nowrap\">AA<a name=\"genomic-study-change-type-cs-AA\"> </a></td><td>Protein/amino Acids change</td><td>Change that involves Amino Acid (AA) or protein sequences.</td></tr><tr><td style=\"white-space:nowrap\">CHR<a name=\"genomic-study-change-type-cs-CHR\"> </a></td><td>Chromosomal changes</td><td>Change that involves number or strcture of chromosomes.</td></tr><tr><td style=\"white-space:nowrap\">CNV<a name=\"genomic-study-change-type-cs-CNV\"> </a></td><td>Copy number variations</td><td>Change that involves copy number variations among various genomes.</td></tr></table></div>"
  },
  "extension" : [
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
      "valueCode" : "cg"
    }
  ],
  "url" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-change-type-cs",
  "version" : "3.0.0-ballot",
  "name" : "GenomicStudyChangeTypeCS",
  "title" : "Genomic Study Change Type CodeSystem",
  "status" : "active",
  "experimental" : true,
  "date" : "2023-12-18T22:45:59+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" : "Backport of http://hl7.org/fhir/genomicstudy-changetype",
  "jurisdiction" : [
    {
      "coding" : [
        {
          "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code" : "001",
          "display" : "World"
        }
      ]
    }
  ],
  "caseSensitive" : true,
  "content" : "complete",
  "count" : 5,
  "concept" : [
    {
      "code" : "DNA",
      "display" : "DNA change",
      "definition" : "Change that involves Deoxyribonucleic acid (DNA) sequences."
    },
    {
      "code" : "RNA",
      "display" : "RNA change",
      "definition" : "Change that involves Ribonucleic Acid (RNA) sequences."
    },
    {
      "code" : "AA",
      "display" : "Protein/amino Acids change",
      "definition" : "Change that involves Amino Acid (AA) or protein sequences."
    },
    {
      "code" : "CHR",
      "display" : "Chromosomal changes",
      "definition" : "Change that involves number or strcture of chromosomes."
    },
    {
      "code" : "CNV",
      "display" : "Copy number variations",
      "definition" : "Change that involves copy number variations among various genomes."
    }
  ]
}