FHIR Cross-Version Extensions package for FHIR R4 from FHIR R5
0.0.1-snapshot-2 - informative International flag

FHIR Cross-Version Extensions package for FHIR R4 from FHIR R5 - Version 0.0.1-snapshot-2. See the Directory of published versions

: Cross-version VS for R5.GenomicStudyType for use in FHIR R4 - TTL Representation

Page standards status: Informative Maturity Level: 1

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@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

# - resource -------------------------------------------------------------------

 a fhir:ValueSet ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "R5-genomicstudy-type-for-R4"] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<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>"^^rdf:XMLLiteral
  ] ; # 
  fhir:extension ( [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm"^^xsd:anyURI ] ;
fhir:value [
a fhir:integer ;
fhir:v 1     ]
  ] [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "cg"     ]
  ] [
    ( fhir:extension [
fhir:url [ fhir:v "packageId"^^xsd:anyURI ] ;
fhir:value [
a fhir:id ;
fhir:v "hl7.fhir.uv.xver-r5.r4"       ]     ] [
fhir:url [ fhir:v "version"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "0.0.1-snapshot-2"       ]     ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/package-source"^^xsd:anyURI ]
  ] [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "informative" ;
      ( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom"^^xsd:anyURI ] ;
fhir:value [
a fhir:canonical ;
fhir:v "http://hl7.org/fhir/5.0/ImplementationGuide/hl7.fhir.uv.xver-r5.r4"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/5.0/ImplementationGuide/hl7.fhir.uv.xver-r5.r4>         ]       ] )     ]
  ] ) ; # 
  fhir:url [ fhir:v "http://hl7.org/fhir/5.0/ValueSet/R5-genomicstudy-type-for-R4"^^xsd:anyURI] ; # 
  fhir:version [ fhir:v "0.0.1-snapshot-2"] ; # 
  fhir:name [ fhir:v "R5_genomicstudy_type_for_R4"] ; # 
  fhir:title [ fhir:v "Cross-version VS for R5.GenomicStudyType for use in FHIR R4"] ; # 
  fhir:status [ fhir:v "active"] ; # 
  fhir:experimental [ fhir:v false] ; # 
  fhir:date [ fhir:v "2025-09-01T22:37:02.541337+10:00"^^xsd:dateTime] ; # 
  fhir:publisher [ fhir:v "Clinical Genomics"] ; # 
  fhir:contact ( [
fhir:name [ fhir:v "Clinical Genomics" ] ;
    ( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "http://www.hl7.org/Special/committees/clingenomics" ]     ] )
  ] ) ; # 
  fhir:description [ fhir:v "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."] ; # 
  fhir:jurisdiction ( [
    ( fhir:coding [
fhir:system [ fhir:v "http://unstats.un.org/unsd/methods/m49/m49.htm"^^xsd:anyURI ] ;
fhir:code [ fhir:v "001" ] ;
fhir:display [ fhir:v "World" ]     ] )
  ] ) ; # 
  fhir:compose [
    ( fhir:include [
fhir:system [ fhir:v "http://hl7.org/fhir/genomicstudy-type"^^xsd:anyURI ] ;
fhir:version [ fhir:v "5.0.0" ] ;
      ( fhir:concept [
fhir:code [ fhir:v "alt-splc" ] ;
fhir:display [ fhir:v "Alternative splicing detection" ]       ] [
fhir:code [ fhir:v "chromatin" ] ;
fhir:display [ fhir:v "Chromatin conformation" ]       ] [
fhir:code [ fhir:v "cnv" ] ;
fhir:display [ fhir:v "CNV detection" ]       ] [
fhir:code [ fhir:v "epi-alt-hist" ] ;
fhir:display [ fhir:v "Epigenetic Alterations - histone modifications" ]       ] [
fhir:code [ fhir:v "epi-alt-dna" ] ;
fhir:display [ fhir:v "Epigenetic Alterations -DNA methylation" ]       ] [
fhir:code [ fhir:v "fam-var-segr" ] ;
fhir:display [ fhir:v "Familial variant segregation" ]       ] [
fhir:code [ fhir:v "func-var" ] ;
fhir:display [ fhir:v "Functional variation detection" ]       ] [
fhir:code [ fhir:v "gene-expression" ] ;
fhir:display [ fhir:v "Gene expression profiling" ]       ] [
fhir:code [ fhir:v "post-trans-mod" ] ;
fhir:display [ fhir:v "Post-translational Modification Identification" ]       ] [
fhir:code [ fhir:v "snp" ] ;
fhir:display [ fhir:v "SNP Detection" ]       ] [
fhir:code [ fhir:v "str" ] ;
fhir:display [ fhir:v "STR count" ]       ] [
fhir:code [ fhir:v "struc-var" ] ;
fhir:display [ fhir:v "Structural variation detection" ]       ] )     ] )
  ] ; # 
  fhir:expansion [
fhir:timestamp [ fhir:v "2025-09-01T22:37:02.541333+10:00"^^xsd:dateTime ] ;
    ( fhir:contains [
fhir:system [ fhir:v "http://hl7.org/fhir/genomicstudy-type"^^xsd:anyURI ] ;
fhir:version [ fhir:v "5.0.0" ] ;
fhir:code [ fhir:v "alt-splc" ] ;
fhir:display [ fhir:v "Alternative splicing detection" ]     ] [
fhir:system [ fhir:v "http://hl7.org/fhir/genomicstudy-type"^^xsd:anyURI ] ;
fhir:version [ fhir:v "5.0.0" ] ;
fhir:code [ fhir:v "chromatin" ] ;
fhir:display [ fhir:v "Chromatin conformation" ]     ] [
fhir:system [ fhir:v "http://hl7.org/fhir/genomicstudy-type"^^xsd:anyURI ] ;
fhir:version [ fhir:v "5.0.0" ] ;
fhir:code [ fhir:v "cnv" ] ;
fhir:display [ fhir:v "CNV detection" ]     ] [
fhir:system [ fhir:v "http://hl7.org/fhir/genomicstudy-type"^^xsd:anyURI ] ;
fhir:version [ fhir:v "5.0.0" ] ;
fhir:code [ fhir:v "epi-alt-hist" ] ;
fhir:display [ fhir:v "Epigenetic Alterations - histone modifications" ]     ] [
fhir:system [ fhir:v "http://hl7.org/fhir/genomicstudy-type"^^xsd:anyURI ] ;
fhir:version [ fhir:v "5.0.0" ] ;
fhir:code [ fhir:v "epi-alt-dna" ] ;
fhir:display [ fhir:v "Epigenetic Alterations -DNA methylation" ]     ] [
fhir:system [ fhir:v "http://hl7.org/fhir/genomicstudy-type"^^xsd:anyURI ] ;
fhir:version [ fhir:v "5.0.0" ] ;
fhir:code [ fhir:v "fam-var-segr" ] ;
fhir:display [ fhir:v "Familial variant segregation" ]     ] [
fhir:system [ fhir:v "http://hl7.org/fhir/genomicstudy-type"^^xsd:anyURI ] ;
fhir:version [ fhir:v "5.0.0" ] ;
fhir:code [ fhir:v "func-var" ] ;
fhir:display [ fhir:v "Functional variation detection" ]     ] [
fhir:system [ fhir:v "http://hl7.org/fhir/genomicstudy-type"^^xsd:anyURI ] ;
fhir:version [ fhir:v "5.0.0" ] ;
fhir:code [ fhir:v "gene-expression" ] ;
fhir:display [ fhir:v "Gene expression profiling" ]     ] [
fhir:system [ fhir:v "http://hl7.org/fhir/genomicstudy-type"^^xsd:anyURI ] ;
fhir:version [ fhir:v "5.0.0" ] ;
fhir:code [ fhir:v "post-trans-mod" ] ;
fhir:display [ fhir:v "Post-translational Modification Identification" ]     ] [
fhir:system [ fhir:v "http://hl7.org/fhir/genomicstudy-type"^^xsd:anyURI ] ;
fhir:version [ fhir:v "5.0.0" ] ;
fhir:code [ fhir:v "snp" ] ;
fhir:display [ fhir:v "SNP Detection" ]     ] [
fhir:system [ fhir:v "http://hl7.org/fhir/genomicstudy-type"^^xsd:anyURI ] ;
fhir:version [ fhir:v "5.0.0" ] ;
fhir:code [ fhir:v "str" ] ;
fhir:display [ fhir:v "STR count" ]     ] [
fhir:system [ fhir:v "http://hl7.org/fhir/genomicstudy-type"^^xsd:anyURI ] ;
fhir:version [ fhir:v "5.0.0" ] ;
fhir:code [ fhir:v "struc-var" ] ;
fhir:display [ fhir:v "Structural variation detection" ]     ] )
  ] . #