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 |
<CodeSystem xmlns="http://hl7.org/fhir">
<id value="genomicstudy-type"/>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml">
<p>This code system
<code>http://hl7.org/fhir/genomicstudy-type</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="genomicstudy-type-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="genomicstudy-type-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="genomicstudy-type-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="genomicstudy-type-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="genomicstudy-type-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="genomicstudy-type-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="genomicstudy-type-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="genomicstudy-type-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="genomicstudy-type-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="genomicstudy-type-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="genomicstudy-type-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="genomicstudy-type-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-standards-status">
<valueCode value="informative"/>
</extension>
<extension
url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm">
<valueInteger value="1"/>
</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="0.0.1-snapshot-2"/>
</extension>
</extension>
<extension
url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg">
<valueCode value="cg"/>
</extension>
<url value="http://hl7.org/fhir/genomicstudy-type"/>
<version value="5.0.0"/>
<name value="GenomicStudyType"/>
<title value="Genomic Study Type"/>
<status value="active"/>
<experimental value="true"/>
<date value="2022-08-18T07:19:24+10:00"/>
<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="The type relevant to GenomicStudy."/>
<jurisdiction>
<coding>
<system value="http://unstats.un.org/unsd/methods/m49/m49.htm"/>
<code value="001"/>
<display value="World"/>
</coding>
</jurisdiction>
<caseSensitive value="true"/>
<valueSet value="http://hl7.org/fhir/ValueSet/genomicstudy-type"/>
<content value="complete"/>
<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>
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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