Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild 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

## : Genomic Study Change Type CodeSystem - TTL Representation

Page standards status: Informative

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    @prefix fhir: <http://hl7.org/fhir/> .
    @prefix owl: <http://www.w3.org/2002/07/owl#> .
    @prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
    @prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
    @prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

    # - resource -------------------------------------------------------------------

     a fhir:CodeSystem ;
      fhir:nodeRole fhir:treeRoot ;
      fhir:id [ fhir:v "genomic-study-change-type-cs"] ; #
      fhir:text [
    fhir:status [ fhir:v "generated" ] ;
    fhir:div [ fhir:v "<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><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>"^^rdf:XMLLiteral ]
      ] ; #
      fhir:extension ( [
    fhir:url [
    fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/StructureDefinition/structuredefinition-wg>     ] ;
    fhir:value [
    a fhir:Code ;
    fhir:v "cg"     ]
      ] [
    fhir:url [
    fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status>     ] ;
    fhir:value [
    a fhir:Code ;
    fhir:v "informative" ;
          ( fhir:extension [
    fhir:url [
    fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom>         ] ;
    fhir:value [
    a fhir:Canonical ;
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting>         ]       ] )     ]
      ] ) ; #
      fhir:url [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-change-type-cs"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-change-type-cs>
      ] ; #
      fhir:version [ fhir:v "4.0.0-cibuild"] ; #
      fhir:name [ fhir:v "GenomicStudyChangeTypeCS"] ; #
      fhir:title [ fhir:v "Genomic Study Change Type CodeSystem"] ; #
      fhir:status [ fhir:v "active"] ; #
      fhir:experimental [ fhir:v true] ; #
      fhir:date [ fhir:v "2025-11-08T00:09:50+00:00"^^xsd:dateTime] ; #
      fhir:publisher [ fhir:v "HL7 International / Clinical Genomics"] ; #
      fhir:contact ( [
    fhir:name [ fhir:v "HL7 International / Clinical Genomics" ] ;
        ( fhir:telecom [
    fhir:system [ fhir:v "url" ] ;
    fhir:value [ fhir:v "http://www.hl7.org/Special/committees/clingenomics" ]     ] [
    fhir:system [ fhir:v "email" ] ;
    fhir:value [ fhir:v "cg@lists.HL7.org" ]     ] )
      ] ) ; #
      fhir:description [ fhir:v "Backport of http://hl7.org/fhir/genomicstudy-changetype"] ; #
      fhir:jurisdiction ( [
        ( fhir:coding [
    fhir:system [
    fhir:v "http://unstats.un.org/unsd/methods/m49/m49.htm"^^xsd:anyURI ;
    fhir:l <http://unstats.un.org/unsd/methods/m49/m49.htm>       ] ;
    fhir:code [ fhir:v "001" ] ;
    fhir:display [ fhir:v "World" ]     ] )
      ] ) ; #
      fhir:caseSensitive [ fhir:v true] ; #
      fhir:content [ fhir:v "complete"] ; #
      fhir:count [ fhir:v "5"^^xsd:nonNegativeInteger] ; #
      fhir:concept ( [
    fhir:code [ fhir:v "DNA" ] ;
    fhir:display [ fhir:v "DNA change" ] ;
    fhir:definition [ fhir:v "Change that involves Deoxyribonucleic acid (DNA) sequences." ]
      ] [
    fhir:code [ fhir:v "RNA" ] ;
    fhir:display [ fhir:v "RNA change" ] ;
    fhir:definition [ fhir:v "Change that involves Ribonucleic Acid (RNA) sequences." ]
      ] [
    fhir:code [ fhir:v "AA" ] ;
    fhir:display [ fhir:v "Protein/amino Acids change" ] ;
    fhir:definition [ fhir:v "Change that involves Amino Acid (AA) or protein sequences." ]
      ] [
    fhir:code [ fhir:v "CHR" ] ;
    fhir:display [ fhir:v "Chromosomal changes" ] ;
    fhir:definition [ fhir:v "Change that involves number or strcture of chromosomes." ]
      ] [
    fhir:code [ fhir:v "CNV" ] ;
    fhir:display [ fhir:v "Copy number variations" ] ;
    fhir:definition [ fhir:v "Change that involves copy number variations among various genomes." ]
      ] ) . #