Release 5

Publish-box (todo)

Example CodeSystem/genomicstudy-changetype (JSON)

Clinical Genomics Work GroupMaturity Level: N/AStandards Status: Informative

Raw JSON (canonical form + also see JSON Format Specification)

Definition for Code SystemGenomicStudyChangeType

{
  "resourceType" : "CodeSystem",
  "id" : "genomicstudy-changetype",
  "meta" : {
    "lastUpdated" : "2023-03-25T23:21:02.749-05:00",
    "profile" : ["http://hl7.org/fhir/StructureDefinition/shareablecodesystem"]
  },
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p>This code system <code>http://hl7.org/fhir/genomicstudy-changetype</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=\"genomicstudy-changetype-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=\"genomicstudy-changetype-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=\"genomicstudy-changetype-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=\"genomicstudy-changetype-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=\"genomicstudy-changetype-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" : "trial-use"
  },
  {
    "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm",
    "valueInteger" : 1
  }],
  "url" : "http://hl7.org/fhir/genomicstudy-changetype",
  "identifier" : [{
    "system" : "urn:ietf:rfc:3986",
    "value" : "urn:oid:2.16.840.1.113883.4.642.4.1977"
  }],
  "version" : "5.0.0",
  "name" : "GenomicStudyChangeType",
  "title" : "Genomic Study Change Type",
  "status" : "active",
  "experimental" : true,
  "date" : "2022-08-17T15:48:24-05:00",
  "publisher" : "HL7 (FHIR Project)",
  "contact" : [{
    "telecom" : [{
      "system" : "url",
      "value" : "http://hl7.org/fhir"
    },
    {
      "system" : "email",
      "value" : "fhir@lists.hl7.org"
    }]
  }],
  "description" : "The change type relevant to GenomicStudy analysis.",
  "jurisdiction" : [{
    "coding" : [{
      "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
      "code" : "001",
      "display" : "World"
    }]
  }],
  "caseSensitive" : true,
  "valueSet" : "http://hl7.org/fhir/ValueSet/genomicstudy-changetype",
  "content" : "complete",
  "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."
  }]
}

Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.