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

## : Genomic Study Change Type CodeSystem - JSON Representation

Page standards status: Informative

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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 class=\"res-header-id\"><b>Generated Narrative: CodeSystem genomic-study-change-type-cs</b></p><a name=\"genomic-study-change-type-cs\"> </a><a name=\"hcgenomic-study-change-type-cs\"> </a><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/StructureDefinition/structuredefinition-standards-status",
          "valueCode" : "informative",
          "_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/CodeSystem/genomic-study-change-type-cs",
      "version" : "4.0.0-cibuild",
      "name" : "GenomicStudyChangeTypeCS",
      "title" : "Genomic Study Change Type CodeSystem",
      "status" : "active",
      "experimental" : true,
      "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" : "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."
        }
      ]
    }