Extensions for Using Data Elements from FHIR R5 in FHIR R4 - Downloaded Version null See the Directory of published versions

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: R5GenomicstudyTypeForR4 - XML Representation

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<ValueSet xmlns="http://hl7.org/fhir">
  <id value="R5-genomicstudy-type-for-R4"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: ValueSet R5-genomicstudy-type-for-R4</b></p><a name="R5-genomicstudy-type-for-R4"> </a><a name="hcR5-genomicstudy-type-for-R4"> </a><p>This value set expansion contains 12 concepts.</p><table class="codes"><tr><td><b>System</b></td><td><b>Version</b></td><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td></tr><tr><td><a name="R5-genomicstudy-type-for-R4-http://hl7.org/fhir/genomicstudy-type-alt-splc"> </a><code>http://hl7.org/fhir/genomicstudy-type</code></td><td>5.0.0</td><td style="white-space:nowrap">  <a href="CodeSystem-genomicstudy-type.html#genomicstudy-type-alt-splc">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><a name="R5-genomicstudy-type-for-R4-http://hl7.org/fhir/genomicstudy-type-chromatin"> </a><code>http://hl7.org/fhir/genomicstudy-type</code></td><td>5.0.0</td><td style="white-space:nowrap">  <a href="CodeSystem-genomicstudy-type.html#genomicstudy-type-chromatin">chromatin</a></td><td>Chromatin conformation</td><td>Analysis of the spacial organization of chromatin within a cell</td></tr><tr><td><a name="R5-genomicstudy-type-for-R4-http://hl7.org/fhir/genomicstudy-type-cnv"> </a><code>http://hl7.org/fhir/genomicstudy-type</code></td><td>5.0.0</td><td style="white-space:nowrap">  <a href="CodeSystem-genomicstudy-type.html#genomicstudy-type-cnv">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><a name="R5-genomicstudy-type-for-R4-http://hl7.org/fhir/genomicstudy-type-epi-alt-dna"> </a><code>http://hl7.org/fhir/genomicstudy-type</code></td><td>5.0.0</td><td style="white-space:nowrap">  <a href="CodeSystem-genomicstudy-type.html#genomicstudy-type-epi-alt-dna">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><a name="R5-genomicstudy-type-for-R4-http://hl7.org/fhir/genomicstudy-type-epi-alt-hist"> </a><code>http://hl7.org/fhir/genomicstudy-type</code></td><td>5.0.0</td><td style="white-space:nowrap">  <a href="CodeSystem-genomicstudy-type.html#genomicstudy-type-epi-alt-hist">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><a name="R5-genomicstudy-type-for-R4-http://hl7.org/fhir/genomicstudy-type-fam-var-segr"> </a><code>http://hl7.org/fhir/genomicstudy-type</code></td><td>5.0.0</td><td style="white-space:nowrap">  <a href="CodeSystem-genomicstudy-type.html#genomicstudy-type-fam-var-segr">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><a name="R5-genomicstudy-type-for-R4-http://hl7.org/fhir/genomicstudy-type-func-var"> </a><code>http://hl7.org/fhir/genomicstudy-type</code></td><td>5.0.0</td><td style="white-space:nowrap">  <a href="CodeSystem-genomicstudy-type.html#genomicstudy-type-func-var">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><a name="R5-genomicstudy-type-for-R4-http://hl7.org/fhir/genomicstudy-type-gene-expression"> </a><code>http://hl7.org/fhir/genomicstudy-type</code></td><td>5.0.0</td><td style="white-space:nowrap">  <a href="CodeSystem-genomicstudy-type.html#genomicstudy-type-gene-expression">gene-expression</a></td><td>Gene expression profiling</td><td>Measurement and characterization of activity from all gene products</td></tr><tr><td><a name="R5-genomicstudy-type-for-R4-http://hl7.org/fhir/genomicstudy-type-post-trans-mod"> </a><code>http://hl7.org/fhir/genomicstudy-type</code></td><td>5.0.0</td><td style="white-space:nowrap">  <a href="CodeSystem-genomicstudy-type.html#genomicstudy-type-post-trans-mod">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><a name="R5-genomicstudy-type-for-R4-http://hl7.org/fhir/genomicstudy-type-snp"> </a><code>http://hl7.org/fhir/genomicstudy-type</code></td><td>5.0.0</td><td style="white-space:nowrap">  <a href="CodeSystem-genomicstudy-type.html#genomicstudy-type-snp">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><a name="R5-genomicstudy-type-for-R4-http://hl7.org/fhir/genomicstudy-type-str"> </a><code>http://hl7.org/fhir/genomicstudy-type</code></td><td>5.0.0</td><td style="white-space:nowrap">  <a href="CodeSystem-genomicstudy-type.html#genomicstudy-type-str">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><a name="R5-genomicstudy-type-for-R4-http://hl7.org/fhir/genomicstudy-type-struc-var"> </a><code>http://hl7.org/fhir/genomicstudy-type</code></td><td>5.0.0</td><td style="white-space:nowrap">  <a href="CodeSystem-genomicstudy-type.html#genomicstudy-type-struc-var">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-fmm">
    <valueInteger value="1"/>
  </extension>
  <extension
             url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg">
    <valueCode value="cg"/>
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/package-source">
    <extension url="packageId">
      <valueId value="hl7.fhir.uv.xver-r5.r4"/>
    </extension>
    <extension url="version">
      <valueString value="0.1.0"/>
    </extension>
    <extension url="uri">
      <valueUri
                value="http://hl7.org/fhir/uv/xver/ImplementationGuide/hl7.fhir.uv.xver-r5.r4"/>
    </extension>
  </extension>
  <extension
             url="http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status">
    <valueCode value="trial-use">
      <extension
                 url="http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom">
        <valueCanonical
                        value="http://hl7.org/fhir/uv/xver/ImplementationGuide/hl7.fhir.uv.xver-r5.r4"/>
      </extension>
    </valueCode>
  </extension>
  <url
       value="http://hl7.org/fhir/uv/xver/ValueSet/R5-genomicstudy-type-for-R4"/>
  <version value="0.1.0"/>
  <name value="R5GenomicstudyTypeForR4"/>
  <title
         value="Cross-version ValueSet R5.GenomicStudyType for use in FHIR R4"/>
  <status value="active"/>
  <experimental value="false"/>
  <date value="2026-03-17T21:02:03.8104715+00:00"/>
  <publisher value="Clinical Genomics"/>
  <contact>
    <name value="Clinical Genomics"/>
    <telecom>
      <system value="url"/>
      <value value="http://www.hl7.org/Special/committees/clingenomics"/>
    </telecom>
  </contact>
  <description
               value="This cross-version ValueSet represents content from `http://hl7.org/fhir/ValueSet/genomicstudy-type|5.0.0` for use in FHIR R4."/>
  <jurisdiction>
    <coding>
      <system value="http://unstats.un.org/unsd/methods/m49/m49.htm"/>
      <code value="001"/>
      <display value="World"/>
    </coding>
  </jurisdiction>
  <purpose
           value="This value set is part of the cross-version definitions generated to enable use of the
value set `http://hl7.org/fhir/ValueSet/genomicstudy-type|5.0.0` as defined in FHIR R5
in FHIR R4.

The source value set is bound to the following FHIR R5 elements:
* `GenomicStudy.type`

Note that all concepts are included in this cross-version definition because no concepts have compatible representations

Following are the generation technical comments:

FHIR ValueSet `http://hl7.org/fhir/ValueSet/genomicstudy-type|5.0.0`, defined in FHIR R5 does not have any mapping to FHIR R4"/>
  <compose>
    <include>
      <system value="http://hl7.org/fhir/genomicstudy-type"/>
      <version value="5.0.0"/>
      <concept>
        <code value="alt-splc"/>
        <display value="Alternative splicing detection"/>
      </concept>
      <concept>
        <code value="chromatin"/>
        <display value="Chromatin conformation"/>
      </concept>
      <concept>
        <code value="cnv"/>
        <display value="CNV detection"/>
      </concept>
      <concept>
        <code value="epi-alt-dna"/>
        <display value="Epigenetic Alterations -DNA methylation"/>
      </concept>
      <concept>
        <code value="epi-alt-hist"/>
        <display value="Epigenetic Alterations - histone modifications"/>
      </concept>
      <concept>
        <code value="fam-var-segr"/>
        <display value="Familial variant segregation"/>
      </concept>
      <concept>
        <code value="func-var"/>
        <display value="Functional variation detection"/>
      </concept>
      <concept>
        <code value="gene-expression"/>
        <display value="Gene expression profiling"/>
      </concept>
      <concept>
        <code value="post-trans-mod"/>
        <display value="Post-translational Modification Identification"/>
      </concept>
      <concept>
        <code value="snp"/>
        <display value="SNP Detection"/>
      </concept>
      <concept>
        <code value="str"/>
        <display value="STR count"/>
      </concept>
      <concept>
        <code value="struc-var"/>
        <display value="Structural variation detection"/>
      </concept>
    </include>
  </compose>
  <expansion>
    <timestamp value="2026-03-17T21:02:03.8104715+00:00"/>
    <contains>
      <system value="http://hl7.org/fhir/genomicstudy-type"/>
      <version value="5.0.0"/>
      <code value="alt-splc"/>
      <display value="Alternative splicing detection"/>
    </contains>
    <contains>
      <system value="http://hl7.org/fhir/genomicstudy-type"/>
      <version value="5.0.0"/>
      <code value="chromatin"/>
      <display value="Chromatin conformation"/>
    </contains>
    <contains>
      <system value="http://hl7.org/fhir/genomicstudy-type"/>
      <version value="5.0.0"/>
      <code value="cnv"/>
      <display value="CNV detection"/>
    </contains>
    <contains>
      <system value="http://hl7.org/fhir/genomicstudy-type"/>
      <version value="5.0.0"/>
      <code value="epi-alt-dna"/>
      <display value="Epigenetic Alterations -DNA methylation"/>
    </contains>
    <contains>
      <system value="http://hl7.org/fhir/genomicstudy-type"/>
      <version value="5.0.0"/>
      <code value="epi-alt-hist"/>
      <display value="Epigenetic Alterations - histone modifications"/>
    </contains>
    <contains>
      <system value="http://hl7.org/fhir/genomicstudy-type"/>
      <version value="5.0.0"/>
      <code value="fam-var-segr"/>
      <display value="Familial variant segregation"/>
    </contains>
    <contains>
      <system value="http://hl7.org/fhir/genomicstudy-type"/>
      <version value="5.0.0"/>
      <code value="func-var"/>
      <display value="Functional variation detection"/>
    </contains>
    <contains>
      <system value="http://hl7.org/fhir/genomicstudy-type"/>
      <version value="5.0.0"/>
      <code value="gene-expression"/>
      <display value="Gene expression profiling"/>
    </contains>
    <contains>
      <system value="http://hl7.org/fhir/genomicstudy-type"/>
      <version value="5.0.0"/>
      <code value="post-trans-mod"/>
      <display value="Post-translational Modification Identification"/>
    </contains>
    <contains>
      <system value="http://hl7.org/fhir/genomicstudy-type"/>
      <version value="5.0.0"/>
      <code value="snp"/>
      <display value="SNP Detection"/>
    </contains>
    <contains>
      <system value="http://hl7.org/fhir/genomicstudy-type"/>
      <version value="5.0.0"/>
      <code value="str"/>
      <display value="STR count"/>
    </contains>
    <contains>
      <system value="http://hl7.org/fhir/genomicstudy-type"/>
      <version value="5.0.0"/>
      <code value="struc-var"/>
      <display value="Structural variation detection"/>
    </contains>
  </expansion>
</ValueSet>