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 Type CodeSystem - XML Representation

Page standards status: Informative

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    <CodeSystem xmlns="http://hl7.org/fhir">
      <id value="genomic-study-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-type-cs</b></p><a name="genomic-study-type-cs"> </a><a name="hcgenomic-study-type-cs"> </a><p>This case-sensitive code system <code>http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-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">alt-splc<a name="genomic-study-type-cs-alt-splc"> </a></td><td>Alternative splicing detection</td><td>Identification of multiple different processed mRNA transcripts from the same DNA template</td></tr><tr><td style="white-space:nowrap">chromatin<a name="genomic-study-type-cs-chromatin"> </a></td><td>Chromatin conformation</td><td>Analysis of the spacial organization of chromatin within a cell</td></tr><tr><td style="white-space:nowrap">cnv<a name="genomic-study-type-cs-cnv"> </a></td><td>CNV detection</td><td>Detection of a change in the number of copies of a defined region of genomic DNA sequence resulting in structural variation when compared to the reference sequence</td></tr><tr><td style="white-space:nowrap">epi-alt-hist<a name="genomic-study-type-cs-epi-alt-hist"> </a></td><td>Epigenetic Alterations - histone modifications</td><td>Detection of biochemical modifications covalently bound to the N-terminal tail of a histone protein. These modifications may alter chromatin compaction and gene expression</td></tr><tr><td style="white-space:nowrap">epi-alt-dna<a name="genomic-study-type-cs-epi-alt-dna"> </a></td><td>Epigenetic Alterations -DNA methylation</td><td>Detection of the presence of an additional methyl group on a DNA nucleobase, which may alter gene transcription</td></tr><tr><td style="white-space:nowrap">fam-var-segr<a name="genomic-study-type-cs-fam-var-segr"> </a></td><td>Familial variant segregation</td><td>Determining if a variant identified in an individual is present in other family members</td></tr><tr><td style="white-space:nowrap">func-var<a name="genomic-study-type-cs-func-var"> </a></td><td>Functional variation detection</td><td>Detection of sequence variants which may alter gene expression or gene product function when compared to the reference sequence</td></tr><tr><td style="white-space:nowrap">gene-expression<a name="genomic-study-type-cs-gene-expression"> </a></td><td>Gene expression profiling</td><td>Measurement and characterization of activity from all gene products</td></tr><tr><td style="white-space:nowrap">post-trans-mod<a name="genomic-study-type-cs-post-trans-mod"> </a></td><td>Post-translational Modification Identification</td><td>Detection of biochemical modifications covalently bound to the amino acid monomers of a processed protein</td></tr><tr><td style="white-space:nowrap">snp<a name="genomic-study-type-cs-snp"> </a></td><td>SNP Detection</td><td>Determination of which nucleotide is base present at a known variable location of the genomic sequence</td></tr><tr><td style="white-space:nowrap">str<a name="genomic-study-type-cs-str"> </a></td><td>STR count</td><td>Quantification of the number of sequential microsatellite units in a repetitive sequence region</td></tr><tr><td style="white-space:nowrap">struc-var<a name="genomic-study-type-cs-struc-var"> </a></td><td>Structural variation detection</td><td>Detection of deletions, insertions, or rearrangements of DNA segments compared to the reference sequence</td></tr></table></div>
      </text>
      <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="informative">
          <extension
                     url="http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom">
            <valueCanonical
                            value="http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"/>
          </extension>
        </valueCode>
      </extension>
      <url
           value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs"/>
      <version value="4.0.0-cibuild"/>
      <name value="GenomicStudyTypeCS"/>
      <title value="Genomic Study Type CodeSystem"/>
      <status value="active"/>
      <experimental value="true"/>
      <date value="2025-11-08T00:09:50+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-type"/>
      <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="12"/>
      <concept>
        <code value="alt-splc"/>
        <display value="Alternative splicing detection"/>
        <definition
                    value="Identification of multiple different processed mRNA transcripts from the same DNA template"/>
      </concept>
      <concept>
        <code value="chromatin"/>
        <display value="Chromatin conformation"/>
        <definition
                    value="Analysis of the spacial organization of chromatin within a cell"/>
      </concept>
      <concept>
        <code value="cnv"/>
        <display value="CNV detection"/>
        <definition
                    value="Detection of a change in the number of copies of a defined region of genomic DNA sequence resulting in structural variation when compared to the reference sequence"/>
      </concept>
      <concept>
        <code value="epi-alt-hist"/>
        <display value="Epigenetic Alterations - histone modifications"/>
        <definition
                    value="Detection of biochemical modifications covalently bound to the N-terminal tail of a histone protein. These modifications may alter chromatin compaction and gene expression"/>
      </concept>
      <concept>
        <code value="epi-alt-dna"/>
        <display value="Epigenetic Alterations -DNA methylation"/>
        <definition
                    value="Detection of the presence of an additional methyl group on a DNA nucleobase, which may alter gene transcription"/>
      </concept>
      <concept>
        <code value="fam-var-segr"/>
        <display value="Familial variant segregation"/>
        <definition
                    value="Determining if a variant identified in an individual is present in other family members"/>
      </concept>
      <concept>
        <code value="func-var"/>
        <display value="Functional variation detection"/>
        <definition
                    value="Detection of sequence variants which may alter gene expression or gene product function when compared to the reference sequence"/>
      </concept>
      <concept>
        <code value="gene-expression"/>
        <display value="Gene expression profiling"/>
        <definition
                    value="Measurement and characterization of activity from all gene products"/>
      </concept>
      <concept>
        <code value="post-trans-mod"/>
        <display value="Post-translational Modification Identification"/>
        <definition
                    value="Detection of biochemical modifications covalently bound to the amino acid monomers of a processed protein"/>
      </concept>
      <concept>
        <code value="snp"/>
        <display value="SNP Detection"/>
        <definition
                    value="Determination of which nucleotide is base present at a known variable location of the genomic sequence"/>
      </concept>
      <concept>
        <code value="str"/>
        <display value="STR count"/>
        <definition
                    value="Quantification of the number of sequential microsatellite units in a repetitive sequence region"/>
      </concept>
      <concept>
        <code value="struc-var"/>
        <display value="Structural variation detection"/>
        <definition
                    value="Detection of deletions, insertions, or rearrangements of DNA segments compared to the reference sequence"/>
      </concept>
    </CodeSystem>