@prefix fhir: . @prefix owl: . @prefix rdf: . @prefix rdfs: . @prefix xsd: . # - resource ------------------------------------------------------------------- a fhir:ValueSet ; fhir:nodeRole fhir:treeRoot ; fhir:id [ fhir:v "R5-genomicstudy-type-for-R4B"] ; # fhir:text [ fhir:status [ fhir:v "generated" ] ; fhir:div "

Generated Narrative: ValueSet R5-genomicstudy-type-for-R4B

This value set expansion contains 12 concepts.

CodeSystemDisplayDefinition
  alt-splchttp://hl7.org/fhir/genomicstudy-typeAlternative splicing detectionIdentification of multiple different processed mRNA transcripts from the same DNA template
  chromatinhttp://hl7.org/fhir/genomicstudy-typeChromatin conformationAnalysis of the spacial organization of chromatin within a cell
  cnvhttp://hl7.org/fhir/genomicstudy-typeCNV detectionDetection 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
  epi-alt-histhttp://hl7.org/fhir/genomicstudy-typeEpigenetic Alterations - histone modificationsDetection of biochemical modifications covalently bound to the N-terminal tail of a histone protein. These modifications may alter chromatin compaction and gene expression
  epi-alt-dnahttp://hl7.org/fhir/genomicstudy-typeEpigenetic Alterations -DNA methylationDetection of the presence of an additional methyl group on a DNA nucleobase, which may alter gene transcription
  fam-var-segrhttp://hl7.org/fhir/genomicstudy-typeFamilial variant segregationDetermining if a variant identified in an individual is present in other family members
  func-varhttp://hl7.org/fhir/genomicstudy-typeFunctional variation detectionDetection of sequence variants which may alter gene expression or gene product function when compared to the reference sequence
  gene-expressionhttp://hl7.org/fhir/genomicstudy-typeGene expression profilingMeasurement and characterization of activity from all gene products
  post-trans-modhttp://hl7.org/fhir/genomicstudy-typePost-translational Modification IdentificationDetection of biochemical modifications covalently bound to the amino acid monomers of a processed protein
  snphttp://hl7.org/fhir/genomicstudy-typeSNP DetectionDetermination of which nucleotide is base present at a known variable location of the genomic sequence
  strhttp://hl7.org/fhir/genomicstudy-typeSTR countQuantification of the number of sequential microsatellite units in a repetitive sequence region
  struc-varhttp://hl7.org/fhir/genomicstudy-typeStructural variation detectionDetection of deletions, insertions, or rearrangements of DNA segments compared to the reference sequence
"^^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.r4b" ] ] [ 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 "trial-use" ; 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.r4b"^^xsd:anyURI ; fhir:link ] ] ) ] ] ) ; # fhir:url [ fhir:v "http://hl7.org/fhir/5.0/ValueSet/R5-genomicstudy-type-for-R4B"^^xsd:anyURI] ; # fhir:version [ fhir:v "0.0.1-snapshot-2"] ; # fhir:name [ fhir:v "R5_genomicstudy_type_for_R4B"] ; # fhir:title [ fhir:v "Cross-version VS for R5.GenomicStudyType for use in FHIR R4B"] ; # fhir:status [ fhir:v "active"] ; # fhir:experimental [ fhir:v false] ; # fhir:date [ fhir:v "2025-09-01T22:37:02.541333+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 R4B. Concepts not present here have direct `equivalent` mappings crossing all versions from R5 to R4B."] ; # 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" ] ] ) ] . # # -------------------------------------------------------------------------------------