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" : "CodeSystem",
"id" : "genomicstudy-type",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\">\n <p>This code system \n <code>http://hl7.org/fhir/genomicstudy-type</code> defines the following codes:\n </p>\n <table class=\"codes\">\n <tr>\n <td style=\"white-space:nowrap\">\n <b>Code</b>\n </td>\n <td>\n <b>Display</b>\n </td>\n <td>\n <b>Definition</b>\n </td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">alt-splc\n <a name=\"genomicstudy-type-alt-splc\"> </a>\n </td>\n <td>Alternative splicing detection</td>\n <td>Identification of multiple different processed mRNA transcripts from the same DNA template</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">chromatin\n <a name=\"genomicstudy-type-chromatin\"> </a>\n </td>\n <td>Chromatin conformation</td>\n <td>Analysis of the spacial organization of chromatin within a cell</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">cnv\n <a name=\"genomicstudy-type-cnv\"> </a>\n </td>\n <td>CNV detection</td>\n <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>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">epi-alt-hist\n <a name=\"genomicstudy-type-epi-alt-hist\"> </a>\n </td>\n <td>Epigenetic Alterations - histone modifications</td>\n <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>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">epi-alt-dna\n <a name=\"genomicstudy-type-epi-alt-dna\"> </a>\n </td>\n <td>Epigenetic Alterations -DNA methylation</td>\n <td>Detection of the presence of an additional methyl group on a DNA nucleobase, which may alter gene transcription</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">fam-var-segr\n <a name=\"genomicstudy-type-fam-var-segr\"> </a>\n </td>\n <td>Familial variant segregation</td>\n <td>Determining if a variant identified in an individual is present in other family members</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">func-var\n <a name=\"genomicstudy-type-func-var\"> </a>\n </td>\n <td>Functional variation detection</td>\n <td>Detection of sequence variants which may alter gene expression or gene product function when compared to the reference sequence</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">gene-expression\n <a name=\"genomicstudy-type-gene-expression\"> </a>\n </td>\n <td>Gene expression profiling</td>\n <td>Measurement and characterization of activity from all gene products</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">post-trans-mod\n <a name=\"genomicstudy-type-post-trans-mod\"> </a>\n </td>\n <td>Post-translational Modification Identification</td>\n <td>Detection of biochemical modifications covalently bound to the amino acid monomers of a processed protein</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">snp\n <a name=\"genomicstudy-type-snp\"> </a>\n </td>\n <td>SNP Detection</td>\n <td>Determination of which nucleotide is base present at a known variable location of the genomic sequence</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">str\n <a name=\"genomicstudy-type-str\"> </a>\n </td>\n <td>STR count</td>\n <td>Quantification of the number of sequential microsatellite units in a repetitive sequence region</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">struc-var\n <a name=\"genomicstudy-type-struc-var\"> </a>\n </td>\n <td>Structural variation detection</td>\n <td>Detection of deletions, insertions, or rearrangements of DNA segments compared to the reference sequence</td>\n </tr>\n </table>\n </div>"
},
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
"valueCode" : "informative"
},
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm",
"valueInteger" : 1
},
{
"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-wg",
"valueCode" : "cg"
}
],
"url" : "http://hl7.org/fhir/genomicstudy-type",
"version" : "5.0.0",
"name" : "GenomicStudyType",
"title" : "Genomic Study Type",
"status" : "active",
"experimental" : true,
"date" : "2022-08-18T07:19:24+10:00",
"publisher" : "Clinical Genomics",
"contact" : [
{
"name" : "Clinical Genomics",
"telecom" : [
{
"system" : "url",
"value" : "http://www.hl7.org/Special/committees/clingenomics"
}
]
}
],
"description" : "The type relevant to GenomicStudy.",
"jurisdiction" : [
{
"coding" : [
{
"system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
"code" : "001",
"display" : "World"
}
]
}
],
"caseSensitive" : true,
"valueSet" : "http://hl7.org/fhir/ValueSet/genomicstudy-type",
"content" : "complete",
"concept" : [
{
"code" : "alt-splc",
"display" : "Alternative splicing detection",
"definition" : "Identification of multiple different processed mRNA transcripts from the same DNA template"
},
{
"code" : "chromatin",
"display" : "Chromatin conformation",
"definition" : "Analysis of the spacial organization of chromatin within a cell"
},
{
"code" : "cnv",
"display" : "CNV detection",
"definition" : "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"
},
{
"code" : "epi-alt-hist",
"display" : "Epigenetic Alterations - histone modifications",
"definition" : "Detection of biochemical modifications covalently bound to the N-terminal tail of a histone protein. These modifications may alter chromatin compaction and gene expression"
},
{
"code" : "epi-alt-dna",
"display" : "Epigenetic Alterations -DNA methylation",
"definition" : "Detection of the presence of an additional methyl group on a DNA nucleobase, which may alter gene transcription"
},
{
"code" : "fam-var-segr",
"display" : "Familial variant segregation",
"definition" : "Determining if a variant identified in an individual is present in other family members"
},
{
"code" : "func-var",
"display" : "Functional variation detection",
"definition" : "Detection of sequence variants which may alter gene expression or gene product function when compared to the reference sequence"
},
{
"code" : "gene-expression",
"display" : "Gene expression profiling",
"definition" : "Measurement and characterization of activity from all gene products"
},
{
"code" : "post-trans-mod",
"display" : "Post-translational Modification Identification",
"definition" : "Detection of biochemical modifications covalently bound to the amino acid monomers of a processed protein"
},
{
"code" : "snp",
"display" : "SNP Detection",
"definition" : "Determination of which nucleotide is base present at a known variable location of the genomic sequence"
},
{
"code" : "str",
"display" : "STR count",
"definition" : "Quantification of the number of sequential microsatellite units in a repetitive sequence region"
},
{
"code" : "struc-var",
"display" : "Structural variation detection",
"definition" : "Detection of deletions, insertions, or rearrangements of DNA segments compared to the reference sequence"
}
]
}
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
Links: Table of Contents |
QA Report
| Version History |
|
History