Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 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
Active as of 2024-12-12 |
<CodeSystem xmlns="http://hl7.org/fhir">
<id value="genomic-study-change-type-cs"/>
<text>
<status value="generated"/>
<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><a name="genomic-study-change-type-cs-en-US"> </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>
</text>
<extension
url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg">
<valueCode value="cg"/>
</extension>
<url
value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-change-type-cs"/>
<version value="3.0.0"/>
<name value="GenomicStudyChangeTypeCS"/>
<title value="Genomic Study Change Type CodeSystem"/>
<status value="active"/>
<experimental value="true"/>
<date value="2024-12-12T20:13:16+00:00"/>
<publisher value="HL7 International / Clinical Genomics"/>
<contact>
<name value="HL7 International / Clinical Genomics"/>
<telecom>
<system value="url"/>
<value value="http://www.hl7.org/Special/committees/clingenomics"/>
</telecom>
<telecom>
<system value="email"/>
<value value="cg@lists.HL7.org"/>
</telecom>
</contact>
<description
value="Backport of http://hl7.org/fhir/genomicstudy-changetype"/>
<jurisdiction>
<coding>
<system value="http://unstats.un.org/unsd/methods/m49/m49.htm"/>
<code value="001"/>
<display value="World"/>
</coding>
</jurisdiction>
<caseSensitive value="true"/>
<content value="complete"/>
<count value="5"/>
<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>