Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions
Active as of 2024-12-12 |
{
"resourceType" : "CodeSystem",
"id" : "genomic-study-change-type-cs",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem genomic-study-change-type-cs</b></p><a name=\"genomic-study-change-type-cs\"> </a><a name=\"hcgenomic-study-change-type-cs\"> </a><a name=\"genomic-study-change-type-cs-en-US\"> </a><p>This case-sensitive code system <code>http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-change-type-cs</code> defines the following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td></tr><tr><td style=\"white-space:nowrap\">DNA<a name=\"genomic-study-change-type-cs-DNA\"> </a></td><td>DNA change</td><td>Change that involves Deoxyribonucleic acid (DNA) sequences.</td></tr><tr><td style=\"white-space:nowrap\">RNA<a name=\"genomic-study-change-type-cs-RNA\"> </a></td><td>RNA change</td><td>Change that involves Ribonucleic Acid (RNA) sequences.</td></tr><tr><td style=\"white-space:nowrap\">AA<a name=\"genomic-study-change-type-cs-AA\"> </a></td><td>Protein/amino Acids change</td><td>Change that involves Amino Acid (AA) or protein sequences.</td></tr><tr><td style=\"white-space:nowrap\">CHR<a name=\"genomic-study-change-type-cs-CHR\"> </a></td><td>Chromosomal changes</td><td>Change that involves number or strcture of chromosomes.</td></tr><tr><td style=\"white-space:nowrap\">CNV<a name=\"genomic-study-change-type-cs-CNV\"> </a></td><td>Copy number variations</td><td>Change that involves copy number variations among various genomes.</td></tr></table></div>"
},
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
"valueCode" : "cg"
}
],
"url" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-change-type-cs",
"version" : "3.0.0",
"name" : "GenomicStudyChangeTypeCS",
"title" : "Genomic Study Change Type CodeSystem",
"status" : "active",
"experimental" : true,
"date" : "2024-12-12T20:13:16+00:00",
"publisher" : "HL7 International / Clinical Genomics",
"contact" : [
{
"name" : "HL7 International / Clinical Genomics",
"telecom" : [
{
"system" : "url",
"value" : "http://www.hl7.org/Special/committees/clingenomics"
},
{
"system" : "email",
"value" : "cg@lists.HL7.org"
}
]
}
],
"description" : "Backport of http://hl7.org/fhir/genomicstudy-changetype",
"jurisdiction" : [
{
"coding" : [
{
"system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
"code" : "001",
"display" : "World"
}
]
}
],
"caseSensitive" : true,
"content" : "complete",
"count" : 5,
"concept" : [
{
"code" : "DNA",
"display" : "DNA change",
"definition" : "Change that involves Deoxyribonucleic acid (DNA) sequences."
},
{
"code" : "RNA",
"display" : "RNA change",
"definition" : "Change that involves Ribonucleic Acid (RNA) sequences."
},
{
"code" : "AA",
"display" : "Protein/amino Acids change",
"definition" : "Change that involves Amino Acid (AA) or protein sequences."
},
{
"code" : "CHR",
"display" : "Chromosomal changes",
"definition" : "Change that involves number or strcture of chromosomes."
},
{
"code" : "CNV",
"display" : "Copy number variations",
"definition" : "Change that involves copy number variations among various genomes."
}
]
}