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 |
{
"resourceType" : "ValueSet",
"id" : "R5-genomicstudy-type-for-R4",
"text" : {
"status" : "generated",
"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>\u00a0\u00a0<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>\u00a0\u00a0<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>\u00a0\u00a0<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>\u00a0\u00a0<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>\u00a0\u00a0<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>\u00a0\u00a0<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>\u00a0\u00a0<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>\u00a0\u00a0<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>\u00a0\u00a0<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>\u00a0\u00a0<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>\u00a0\u00a0<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>\u00a0\u00a0<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>"
},
"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.r4"
},
{
"url" : "version",
"valueString" : "0.0.1-snapshot-2"
}
],
"url" : "http://hl7.org/fhir/StructureDefinition/package-source"
},
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
"valueCode" : "informative",
"_valueCode" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom",
"valueCanonical" : "http://hl7.org/fhir/5.0/ImplementationGuide/hl7.fhir.uv.xver-r5.r4"
}
]
}
}
],
"url" : "http://hl7.org/fhir/5.0/ValueSet/R5-genomicstudy-type-for-R4",
"version" : "0.0.1-snapshot-2",
"name" : "R5_genomicstudy_type_for_R4",
"title" : "Cross-version VS for R5.GenomicStudyType for use in FHIR R4",
"status" : "active",
"experimental" : false,
"date" : "2025-09-01T22:37:02.541337+10:00",
"publisher" : "Clinical Genomics",
"contact" : [
{
"name" : "Clinical Genomics",
"telecom" : [
{
"system" : "url",
"value" : "http://www.hl7.org/Special/committees/clingenomics"
}
]
}
],
"description" : "This cross-version ValueSet represents 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.",
"jurisdiction" : [
{
"coding" : [
{
"system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
"code" : "001",
"display" : "World"
}
]
}
],
"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-hist",
"display" : "Epigenetic Alterations - histone modifications"
},
{
"code" : "epi-alt-dna",
"display" : "Epigenetic Alterations -DNA methylation"
},
{
"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" : "2025-09-01T22:37:02.541333+10:00",
"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-hist",
"display" : "Epigenetic Alterations - histone modifications"
},
{
"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" : "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"
}
]
}
}
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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