{ "resourceType" : "ValueSet", "id" : "R5-genomicstudy-type-for-R4B", "text" : { "status" : "generated", "div" : "

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

This value set expansion contains 12 concepts.

SystemVersionCodeDisplayDefinition
http://hl7.org/fhir/genomicstudy-type5.0.0\u00a0\u00a0alt-splcAlternative splicing detectionIdentification of multiple different processed mRNA transcripts from the same DNA template
http://hl7.org/fhir/genomicstudy-type5.0.0\u00a0\u00a0chromatinChromatin conformationAnalysis of the spacial organization of chromatin within a cell
http://hl7.org/fhir/genomicstudy-type5.0.0\u00a0\u00a0cnvCNV 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
http://hl7.org/fhir/genomicstudy-type5.0.0\u00a0\u00a0epi-alt-dnaEpigenetic Alterations -DNA methylationDetection of the presence of an additional methyl group on a DNA nucleobase, which may alter gene transcription
http://hl7.org/fhir/genomicstudy-type5.0.0\u00a0\u00a0epi-alt-histEpigenetic 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
http://hl7.org/fhir/genomicstudy-type5.0.0\u00a0\u00a0fam-var-segrFamilial variant segregationDetermining if a variant identified in an individual is present in other family members
http://hl7.org/fhir/genomicstudy-type5.0.0\u00a0\u00a0func-varFunctional variation detectionDetection of sequence variants which may alter gene expression or gene product function when compared to the reference sequence
http://hl7.org/fhir/genomicstudy-type5.0.0\u00a0\u00a0gene-expressionGene expression profilingMeasurement and characterization of activity from all gene products
http://hl7.org/fhir/genomicstudy-type5.0.0\u00a0\u00a0post-trans-modPost-translational Modification IdentificationDetection of biochemical modifications covalently bound to the amino acid monomers of a processed protein
http://hl7.org/fhir/genomicstudy-type5.0.0\u00a0\u00a0snpSNP DetectionDetermination of which nucleotide is base present at a known variable location of the genomic sequence
http://hl7.org/fhir/genomicstudy-type5.0.0\u00a0\u00a0strSTR countQuantification of the number of sequential microsatellite units in a repetitive sequence region
http://hl7.org/fhir/genomicstudy-type5.0.0\u00a0\u00a0struc-varStructural variation detectionDetection of deletions, insertions, or rearrangements of DNA segments compared to the reference sequence
" }, "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm", "valueInteger" : 1 }, { "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg", "valueCode" : "cg" }, { "extension" : [{ "url" : "packageId", "valueId" : "hl7.fhir.uv.xver-r5.r4b" }, { "url" : "version", "valueString" : "0.1.0" }, { "url" : "uri", "valueUri" : "http://hl7.org/fhir/uv/xver/ImplementationGuide/hl7.fhir.uv.xver-r5.r4b" }], "url" : "http://hl7.org/fhir/StructureDefinition/package-source" }, { "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status", "valueCode" : "trial-use", "_valueCode" : { "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom", "valueCanonical" : "http://hl7.org/fhir/uv/xver/ImplementationGuide/hl7.fhir.uv.xver-r5.r4b" }] } }], "url" : "http://hl7.org/fhir/uv/xver/ValueSet/R5-genomicstudy-type-for-R4B", "version" : "0.1.0", "name" : "R5GenomicstudyTypeForR4B", "title" : "Cross-version ValueSet R5.GenomicStudyType for use in FHIR R4B", "status" : "active", "experimental" : false, "date" : "2026-03-17T21:02:03.8104715+00:00", "publisher" : "Clinical Genomics", "contact" : [{ "name" : "Clinical Genomics", "telecom" : [{ "system" : "url", "value" : "http://www.hl7.org/Special/committees/clingenomics" }] }], "description" : "This cross-version ValueSet represents content from `http://hl7.org/fhir/ValueSet/genomicstudy-type|5.0.0` for use in FHIR R4B.", "jurisdiction" : [{ "coding" : [{ "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm", "code" : "001", "display" : "World" }] }], "purpose" : "This value set is part of the cross-version definitions generated to enable use of the\r\nvalue set `http://hl7.org/fhir/ValueSet/genomicstudy-type|5.0.0` as defined in FHIR R5\r\nin FHIR R4B.\r\n\r\nThe source value set is bound to the following FHIR R5 elements:\r\n* `GenomicStudy.type`\r\n\r\nNote that all concepts are included in this cross-version definition because no concepts have compatible representations\r\n\r\nFollowing are the generation technical comments:\r\n\nFHIR ValueSet `http://hl7.org/fhir/ValueSet/genomicstudy-type|5.0.0`, defined in FHIR R5 does not have any mapping to FHIR R4B", "compose" : { "include" : [{ "system" : "http://hl7.org/fhir/genomicstudy-type", "version" : "5.0.0", "concept" : [{ "code" : "alt-splc", "display" : "Alternative splicing detection" }, { "code" : "chromatin", "display" : "Chromatin conformation" }, { "code" : "cnv", "display" : "CNV detection" }, { "code" : "epi-alt-dna", "display" : "Epigenetic Alterations -DNA methylation" }, { "code" : "epi-alt-hist", "display" : "Epigenetic Alterations - histone modifications" }, { "code" : "fam-var-segr", "display" : "Familial variant segregation" }, { "code" : "func-var", "display" : "Functional variation detection" }, { "code" : "gene-expression", "display" : "Gene expression profiling" }, { "code" : "post-trans-mod", "display" : "Post-translational Modification Identification" }, { "code" : "snp", "display" : "SNP Detection" }, { "code" : "str", "display" : "STR count" }, { "code" : "struc-var", "display" : "Structural variation detection" }] }] }, "expansion" : { "timestamp" : "2026-03-17T21:02:03.8104715+00:00", "contains" : [{ "system" : "http://hl7.org/fhir/genomicstudy-type", "version" : "5.0.0", "code" : "alt-splc", "display" : "Alternative splicing detection" }, { "system" : "http://hl7.org/fhir/genomicstudy-type", "version" : "5.0.0", "code" : "chromatin", "display" : "Chromatin conformation" }, { "system" : "http://hl7.org/fhir/genomicstudy-type", "version" : "5.0.0", "code" : "cnv", "display" : "CNV detection" }, { "system" : "http://hl7.org/fhir/genomicstudy-type", "version" : "5.0.0", "code" : "epi-alt-dna", "display" : "Epigenetic Alterations -DNA methylation" }, { "system" : "http://hl7.org/fhir/genomicstudy-type", "version" : "5.0.0", "code" : "epi-alt-hist", "display" : "Epigenetic Alterations - histone modifications" }, { "system" : "http://hl7.org/fhir/genomicstudy-type", "version" : "5.0.0", "code" : "fam-var-segr", "display" : "Familial variant segregation" }, { "system" : "http://hl7.org/fhir/genomicstudy-type", "version" : "5.0.0", "code" : "func-var", "display" : "Functional variation detection" }, { "system" : "http://hl7.org/fhir/genomicstudy-type", "version" : "5.0.0", "code" : "gene-expression", "display" : "Gene expression profiling" }, { "system" : "http://hl7.org/fhir/genomicstudy-type", "version" : "5.0.0", "code" : "post-trans-mod", "display" : "Post-translational Modification Identification" }, { "system" : "http://hl7.org/fhir/genomicstudy-type", "version" : "5.0.0", "code" : "snp", "display" : "SNP Detection" }, { "system" : "http://hl7.org/fhir/genomicstudy-type", "version" : "5.0.0", "code" : "str", "display" : "STR count" }, { "system" : "http://hl7.org/fhir/genomicstudy-type", "version" : "5.0.0", "code" : "struc-var", "display" : "Structural variation detection" }] } }