Definition for Code SystemGeneElementTypeExample

{
  "resourceType" : "CodeSystem",
  "id" : "gene-element-type",
  "meta" : {
    "lastUpdated" : "2026-06-23T16:20:19.822+00:00"
  },
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem gene-element-type</b></p><a name=\"gene-element-type\"> </a><a name=\"hcgene-element-type\"> </a><p>This case-sensitive code system <code>http://hl7.org/fhir/gene-element-type</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\">promoter<a name=\"gene-element-type-promoter\"> </a></td><td>Promoter</td><td>A DNA sequence that initiates and regulates transcription of a gene.</td></tr><tr><td style=\"white-space:nowrap\">enhancer<a name=\"gene-element-type-enhancer\"> </a></td><td>Enhancer</td><td>A DNA sequence that increases the rate of transcription.</td></tr><tr><td style=\"white-space:nowrap\">silencer<a name=\"gene-element-type-silencer\"> </a></td><td>Silencer</td><td>A DNA sequence that reduces or prevents transcription.</td></tr><tr><td style=\"white-space:nowrap\">terminator<a name=\"gene-element-type-terminator\"> </a></td><td>Terminator</td><td>A DNA sequence that signals the end of transcription.</td></tr><tr><td style=\"white-space:nowrap\">repressor<a name=\"gene-element-type-repressor\"> </a></td><td>Repressor binding site</td><td>A DNA sequence to which a repressor protein binds to inhibit transcription.</td></tr><tr><td style=\"white-space:nowrap\">coding-sequence<a name=\"gene-element-type-coding-sequence\"> </a></td><td>Coding sequence (CDS)</td><td>The portion of a gene that encodes a protein.</td></tr><tr><td style=\"white-space:nowrap\">intron<a name=\"gene-element-type-intron\"> </a></td><td>Intron</td><td>A non-coding sequence within a gene that is spliced out during mRNA processing.</td></tr><tr><td style=\"white-space:nowrap\">ribozyme<a name=\"gene-element-type-ribozyme\"> </a></td><td>Ribozyme</td><td>A catalytic RNA element.</td></tr></table></div>"
  },
  "extension" : [{
    "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
    "valueCode" : "brr"
  },
  {
    "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
    "valueCode" : "informative"
  },
  {
    "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm",
    "valueInteger" : 1
  }],
  "url" : "http://hl7.org/fhir/gene-element-type",
  "version" : "6.0.0-ballot4",
  "name" : "GeneElementTypeExample",
  "title" : "Gene Element Type",
  "status" : "active",
  "experimental" : true,
  "date" : "2026-06-23",
  "publisher" : "HL7 (FHIR Project)",
  "contact" : [{
    "telecom" : [{
      "system" : "url",
      "value" : "http://hl7.org/fhir"
    },
    {
      "system" : "email",
      "value" : "fhir@lists.hl7.org"
    }]
  }],
  "description" : "The functional role of a DNA element within a gene therapy construct.",
  "jurisdiction" : [{
    "coding" : [{
      "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
      "code" : "001",
      "display" : "World"
    }]
  }],
  "caseSensitive" : true,
  "valueSet" : "http://hl7.org/fhir/ValueSet/gene-element-type",
  "content" : "complete",
  "concept" : [{
    "code" : "promoter",
    "display" : "Promoter",
    "definition" : "A DNA sequence that initiates and regulates transcription of a gene."
  },
  {
    "code" : "enhancer",
    "display" : "Enhancer",
    "definition" : "A DNA sequence that increases the rate of transcription."
  },
  {
    "code" : "silencer",
    "display" : "Silencer",
    "definition" : "A DNA sequence that reduces or prevents transcription."
  },
  {
    "code" : "terminator",
    "display" : "Terminator",
    "definition" : "A DNA sequence that signals the end of transcription."
  },
  {
    "code" : "repressor",
    "display" : "Repressor binding site",
    "definition" : "A DNA sequence to which a repressor protein binds to inhibit transcription."
  },
  {
    "code" : "coding-sequence",
    "display" : "Coding sequence (CDS)",
    "definition" : "The portion of a gene that encodes a protein."
  },
  {
    "code" : "intron",
    "display" : "Intron",
    "definition" : "A non-coding sequence within a gene that is spliced out during mRNA processing."
  },
  {
    "code" : "ribozyme",
    "display" : "Ribozyme",
    "definition" : "A catalytic RNA element."
  }]
}