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type: codesystemcodesystem: genomicstudy-changetype

Genomic Study Change Type

Concepts

CodeDisplayDefinition
DNADNA changeChange that involves Deoxyribonucleic acid (DNA) sequences.
RNARNA changeChange that involves Ribonucleic Acid (RNA) sequences.
AAProtein/amino Acids changeChange that involves Amino Acid (AA) or protein sequences.
CHRChromosomal changesChange that involves number or strcture of chromosomes.
CNVCopy number variationsChange that involves copy number variations among various genomes.

CodeSystem XML

<?xml version="1.0" encoding="UTF-8"?>

<CodeSystem xmlns="http://hl7.org/fhir">
  <id value="genomicstudy-changetype"/>
  <meta>
    <lastUpdated value="2022-08-17T15:47:24.148-05:00"/>

  </meta>
  <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg">
    <valueCode value="cg"/>
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status">
    <valueCode value="normative"/>
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm">
    <valueInteger value="1"/>
  </extension>
  <url value="http://hl7.org/fhir/genomicstudy-changetype"/>
  <identifier>
    <system value="urn:ietf:rfc:3986"/>
    <value value="urn:oid:2.16.840.1.113883.4.642.4.1977"/>
  </identifier>
  <version value="6.0.0"/>
  <name value="GenomicStudyChangeType"/>
  <title value="Genomic Study Change Type"/>
  <status value="draft"/>
  <experimental value="true"/>
  <date value="2022-08-17T15:48:24-05:00"/>
  <publisher value="HL7 (FHIR Project)"/>
  <contact>
    <telecom>
      <system value="url"/>
      <value value="http://hl7.org/fhir"/>
    </telecom>
    <telecom>
      <system value="email"/>
      <value value="fhir@lists.hl7.org"/>
    </telecom>
  </contact>
  <description value="The change type relevant to GenomicStudy analysis."/>
  <caseSensitive value="true"/>
  <valueSet value="http://hl7.org/fhir/ValueSet/genomicstudy-changetype"/>
  <content value="complete"/>
  <concept>
    <code value="DNA"/>
    <display value="DNA change"/>
    <definition value="Change that involves Deoxyribonucleic acid (DNA) sequences."/>
  </concept>
  <concept>
    <code value="RNA"/>
    <display value="RNA change"/>
    <definition value="Change that involves Ribonucleic Acid (RNA) sequences."/>
  </concept>
  <concept>
    <code value="AA"/>
    <display value="Protein/amino Acids change "/>
    <definition value="Change that involves Amino Acid (AA) or protein sequences."/>
  </concept>
  <concept>
    <code value="CHR"/>
    <display value="Chromosomal changes"/>
    <definition value="Change that involves number or strcture of chromosomes."/>
  </concept>
  <concept>
    <code value="CNV"/>
    <display value="Copy number variations"/>
    <definition value="Change that involves copy number variations among various genomes."/>
  </concept>
</CodeSystem>