Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT 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

: Sequence Phase Relationship Codes - TTL Representation

Active as of 2024-04-09

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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 "sequence-phase-relationship-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/sequence-phase-relationship-cs</code> defines the following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Definition</b></td></tr><tr><td style=\"white-space:nowrap\">Cis<a name=\"sequence-phase-relationship-cs-Cis\"> </a></td><td>Phase is in cis (same chromosome)</td></tr><tr><td style=\"white-space:nowrap\">Trans<a name=\"sequence-phase-relationship-cs-Trans\"> </a></td><td>Phase is in trans (different chromosomes)</td></tr><tr><td style=\"white-space:nowrap\">Indeterminate<a name=\"sequence-phase-relationship-cs-Indeterminate\"> </a></td><td>Phase is unable to be determined</td></tr><tr><td style=\"white-space:nowrap\">Unknown<a name=\"sequence-phase-relationship-cs-Unknown\"> </a></td><td>Phase is unknown</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/sequence-phase-relationship-cs"^^xsd:anyURI] ; # 
  fhir:version [ fhir:v "3.0.1-SNAPSHOT"] ; # 
  fhir:name [ fhir:v "SequencePhaseRelationshipCS"] ; # 
  fhir:title [ fhir:v "Sequence Phase Relationship Codes"] ; # 
  fhir:status [ fhir:v "active"] ; # 
  fhir:experimental [ fhir:v "false"^^xsd:boolean] ; # 
  fhir:date [ fhir:v "2024-04-09T13:57:55+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 "Code System for specific types of relationships"] ; # 
  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 "4"^^xsd:nonNegativeInteger] ; # 
  fhir:concept ( [
fhir:code [ fhir:v "Cis" ] ;
fhir:display [ fhir:v "Cis" ] ;
fhir:definition [ fhir:v "Phase is in cis (same chromosome)" ]
  ] [
fhir:code [ fhir:v "Trans" ] ;
fhir:display [ fhir:v "Trans" ] ;
fhir:definition [ fhir:v "Phase is in trans (different chromosomes)" ]
  ] [
fhir:code [ fhir:v "Indeterminate" ] ;
fhir:display [ fhir:v "Indeterminate" ] ;
fhir:definition [ fhir:v "Phase is unable to be determined" ]
  ] [
fhir:code [ fhir:v "Unknown" ] ;
fhir:display [ fhir:v "Unknown" ] ;
fhir:definition [ fhir:v "Phase is unknown" ]
  ] ) . #