FHIR Cross-Version Extensions package for FHIR R4 from FHIR R5
0.0.1-snapshot-2 - informative
FHIR Cross-Version Extensions package for FHIR R4 from FHIR R5
0.0.1-snapshot-2 - informative
FHIR Cross-Version Extensions package for FHIR R4 from FHIR R5 - Version 0.0.1-snapshot-2. See the Directory of published versions
| Page standards status: Informative | Maturity Level: 1 |
<ValueSet xmlns="http://hl7.org/fhir">
<id value="R5-genomicstudy-type-for-R4"/>
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<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 style="white-space:nowrap"><b>Code</b></td><td><b>System</b></td><td><b>Display</b></td><td><b>Definition</b></td></tr><tr><td style="white-space:nowrap"><a name="R5-genomicstudy-type-for-R4-http://hl7.org/fhir/genomicstudy-type-alt-splc"> </a> <a href="CodeSystem-genomicstudy-type.html#genomicstudy-type-alt-splc">alt-splc</a></td><td>http://hl7.org/fhir/genomicstudy-type</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"><a name="R5-genomicstudy-type-for-R4-http://hl7.org/fhir/genomicstudy-type-chromatin"> </a> <a href="CodeSystem-genomicstudy-type.html#genomicstudy-type-chromatin">chromatin</a></td><td>http://hl7.org/fhir/genomicstudy-type</td><td>Chromatin conformation</td><td>Analysis of the spacial organization of chromatin within a cell</td></tr><tr><td style="white-space:nowrap"><a name="R5-genomicstudy-type-for-R4-http://hl7.org/fhir/genomicstudy-type-cnv"> </a> <a href="CodeSystem-genomicstudy-type.html#genomicstudy-type-cnv">cnv</a></td><td>http://hl7.org/fhir/genomicstudy-type</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"><a name="R5-genomicstudy-type-for-R4-http://hl7.org/fhir/genomicstudy-type-epi-alt-hist"> </a> <a href="CodeSystem-genomicstudy-type.html#genomicstudy-type-epi-alt-hist">epi-alt-hist</a></td><td>http://hl7.org/fhir/genomicstudy-type</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"><a name="R5-genomicstudy-type-for-R4-http://hl7.org/fhir/genomicstudy-type-epi-alt-dna"> </a> <a href="CodeSystem-genomicstudy-type.html#genomicstudy-type-epi-alt-dna">epi-alt-dna</a></td><td>http://hl7.org/fhir/genomicstudy-type</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"><a name="R5-genomicstudy-type-for-R4-http://hl7.org/fhir/genomicstudy-type-fam-var-segr"> </a> <a href="CodeSystem-genomicstudy-type.html#genomicstudy-type-fam-var-segr">fam-var-segr</a></td><td>http://hl7.org/fhir/genomicstudy-type</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"><a name="R5-genomicstudy-type-for-R4-http://hl7.org/fhir/genomicstudy-type-func-var"> </a> <a href="CodeSystem-genomicstudy-type.html#genomicstudy-type-func-var">func-var</a></td><td>http://hl7.org/fhir/genomicstudy-type</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"><a name="R5-genomicstudy-type-for-R4-http://hl7.org/fhir/genomicstudy-type-gene-expression"> </a> <a href="CodeSystem-genomicstudy-type.html#genomicstudy-type-gene-expression">gene-expression</a></td><td>http://hl7.org/fhir/genomicstudy-type</td><td>Gene expression profiling</td><td>Measurement and characterization of activity from all gene products</td></tr><tr><td style="white-space:nowrap"><a name="R5-genomicstudy-type-for-R4-http://hl7.org/fhir/genomicstudy-type-post-trans-mod"> </a> <a href="CodeSystem-genomicstudy-type.html#genomicstudy-type-post-trans-mod">post-trans-mod</a></td><td>http://hl7.org/fhir/genomicstudy-type</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"><a name="R5-genomicstudy-type-for-R4-http://hl7.org/fhir/genomicstudy-type-snp"> </a> <a href="CodeSystem-genomicstudy-type.html#genomicstudy-type-snp">snp</a></td><td>http://hl7.org/fhir/genomicstudy-type</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"><a name="R5-genomicstudy-type-for-R4-http://hl7.org/fhir/genomicstudy-type-str"> </a> <a href="CodeSystem-genomicstudy-type.html#genomicstudy-type-str">str</a></td><td>http://hl7.org/fhir/genomicstudy-type</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"><a name="R5-genomicstudy-type-for-R4-http://hl7.org/fhir/genomicstudy-type-struc-var"> </a> <a href="CodeSystem-genomicstudy-type.html#genomicstudy-type-struc-var">struc-var</a></td><td>http://hl7.org/fhir/genomicstudy-type</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>
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<url value="http://hl7.org/fhir/5.0/ValueSet/R5-genomicstudy-type-for-R4"/>
<version value="0.0.1-snapshot-2"/>
<name value="R5_genomicstudy_type_for_R4"/>
<title value="Cross-version VS for R5.GenomicStudyType for use in FHIR R4"/>
<status value="active"/>
<experimental value="false"/>
<date value="2025-09-01T22:37:02.541337+10:00"/>
<publisher value="Clinical Genomics"/>
<contact>
<name value="Clinical Genomics"/>
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<value value="http://www.hl7.org/Special/committees/clingenomics"/>
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<description
value="This cross-version ValueSet represents concepts from http://hl7.org/fhir/ValueSet/genomicstudy-type|5.0.0 for use in FHIR R4. Concepts not present here have direct `equivalent` mappings crossing all versions from R5 to R4."/>
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<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-hist"/>
<display value="Epigenetic Alterations - histone modifications"/>
</concept>
<concept>
<code value="epi-alt-dna"/>
<display value="Epigenetic Alterations -DNA methylation"/>
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<concept>
<code value="fam-var-segr"/>
<display value="Familial variant segregation"/>
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<concept>
<code value="func-var"/>
<display value="Functional variation detection"/>
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<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"/>
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<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="2025-09-01T22:37:02.541333+10:00"/>
<contains>
<system value="http://hl7.org/fhir/genomicstudy-type"/>
<version value="5.0.0"/>
<code value="alt-splc"/>
<display value="Alternative splicing detection"/>
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<contains>
<system value="http://hl7.org/fhir/genomicstudy-type"/>
<version value="5.0.0"/>
<code value="chromatin"/>
<display value="Chromatin conformation"/>
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<contains>
<system value="http://hl7.org/fhir/genomicstudy-type"/>
<version value="5.0.0"/>
<code value="cnv"/>
<display value="CNV detection"/>
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<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"/>
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<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"/>
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<contains>
<system value="http://hl7.org/fhir/genomicstudy-type"/>
<version value="5.0.0"/>
<code value="fam-var-segr"/>
<display value="Familial variant segregation"/>
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<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"/>
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</expansion>
</ValueSet>
IG © 2025+ FHIR Infrastructure. Package hl7.fhir.uv.xver-r5.r4#0.0.1-snapshot-2 based on FHIR 4.0.1. Generated 2025-09-13
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