Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

: Genomic Study Change Type CodeSystem - TTL Representation

Active as of 2023-12-18

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@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@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 "<div xmlns=\"http://www.w3.org/1999/xhtml\"><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>"
  ] ; # 
  fhir:extension ( [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg"^^xsd:anyURI ] ;
fhir:value [ fhir:v "cg" ]
  ] ) ; # 
  fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-change-type-cs"^^xsd:anyURI] ; # 
  fhir:version [ fhir:v "3.0.0-ballot"] ; # 
  fhir:name [ fhir:v "GenomicStudyChangeTypeCS"] ; # 
  fhir:title [ fhir:v "Genomic Study Change Type CodeSystem"] ; # 
  fhir:status [ fhir:v "active"] ; # 
  fhir:experimental [ fhir:v "true"^^xsd:boolean] ; # 
  fhir:date [ fhir:v "2023-12-18T22:45:59+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:code [ fhir:v "001" ] ;
fhir:display [ fhir:v "World" ]     ] )
  ] ) ; # 
  fhir:caseSensitive [ fhir:v "true"^^xsd:boolean] ; # 
  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." ]
  ] ) . #