Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build 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 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

: Sequence Phase Relationship Codes - TTL Representation

Page standards status: Trial-use Maturity Level: 2

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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 -------------------------------------------------------------------

<http://hl7.org/fhir/CodeSystem/sequence-phase-relationship-cs> a fhir:CodeSystem ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:Resource.id [ fhir:value "sequence-phase-relationship-cs"] ;
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ] ;
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem sequence-phase-relationship-cs</b></p><a name=\"sequence-phase-relationship-cs\"> </a><a name=\"hcsequence-phase-relationship-cs\"> </a><p>This case-sensitive code system <code>http://terminology.hl7.org/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:DomainResource.extension [
     fhir:index 0 ;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg" ] ;
     fhir:Extension.valueCode [ fhir:value "cg" ]
  ], [
     fhir:index 1 ;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm" ] ;
     fhir:Extension.valueInteger [
       fhir:value "2"^^xsd:integer ;
       fhir:Element.extension [
         fhir:index 0 ;
         fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom" ] ;
         fhir:Extension.valueCanonical [
           fhir:value "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting" ;
           fhir:link <http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting>
         ]
       ]
     ]
  ], [
     fhir:index 2 ;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status" ] ;
     fhir:Extension.valueCode [
       fhir:value "trial-use" ;
       fhir:Element.extension [
         fhir:index 0 ;
         fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom" ] ;
         fhir:Extension.valueCanonical [
           fhir:value "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting" ;
           fhir:link <http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting>
         ]
       ]
     ]
  ] ;
  fhir:CodeSystem.url [ fhir:value "http://terminology.hl7.org/CodeSystem/sequence-phase-relationship-cs"] ;
  fhir:CodeSystem.version [ fhir:value "4.0.0-cibuild"] ;
  fhir:CodeSystem.name [ fhir:value "SequencePhaseRelationshipCS"] ;
  fhir:CodeSystem.title [ fhir:value "Sequence Phase Relationship Codes"] ;
  fhir:CodeSystem.status [ fhir:value "active"] ;
  fhir:CodeSystem.experimental [ fhir:value "false"^^xsd:boolean] ;
  fhir:CodeSystem.date [ fhir:value "2026-09-21T13:24:35+00:00"^^xsd:dateTime] ;
  fhir:CodeSystem.publisher [ fhir:value "HL7 International / Clinical Genomics"] ;
  fhir:CodeSystem.contact [
     fhir:index 0 ;
     fhir:ContactDetail.name [ fhir:value "HL7 International / Clinical Genomics" ] ;
     fhir:ContactDetail.telecom [
       fhir:index 0 ;
       fhir:ContactPoint.system [ fhir:value "url" ] ;
       fhir:ContactPoint.value [ fhir:value "http://www.hl7.org/Special/committees/clingenomics" ]
     ], [
       fhir:index 1 ;
       fhir:ContactPoint.system [ fhir:value "email" ] ;
       fhir:ContactPoint.value [ fhir:value "cg@lists.HL7.org" ]
     ]
  ] ;
  fhir:CodeSystem.description [ fhir:value "Code System for specific types of relationships"] ;
  fhir:CodeSystem.jurisdiction [
     fhir:index 0 ;
     fhir:CodeableConcept.coding [
       fhir:index 0 ;
       fhir:Coding.system [ fhir:value "http://unstats.un.org/unsd/methods/m49/m49.htm" ] ;
       fhir:Coding.code [ fhir:value "001" ] ;
       fhir:Coding.display [ fhir:value "World" ]
     ]
  ] ;
  fhir:CodeSystem.caseSensitive [ fhir:value "true"^^xsd:boolean] ;
  fhir:CodeSystem.content [ fhir:value "complete"] ;
  fhir:CodeSystem.count [ fhir:value "4"^^xsd:nonNegativeInteger] ;
  fhir:CodeSystem.concept [
     fhir:index 0 ;
     fhir:CodeSystem.concept.code [ fhir:value "Cis" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Cis" ] ;
     fhir:CodeSystem.concept.definition [ fhir:value "Phase is in cis (same chromosome)" ]
  ], [
     fhir:index 1 ;
     fhir:CodeSystem.concept.code [ fhir:value "Trans" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Trans" ] ;
     fhir:CodeSystem.concept.definition [ fhir:value "Phase is in trans (different chromosomes)" ]
  ], [
     fhir:index 2 ;
     fhir:CodeSystem.concept.code [ fhir:value "Indeterminate" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Indeterminate" ] ;
     fhir:CodeSystem.concept.definition [ fhir:value "Phase is unable to be determined" ]
  ], [
     fhir:index 3 ;
     fhir:CodeSystem.concept.code [ fhir:value "Unknown" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Unknown" ] ;
     fhir:CodeSystem.concept.definition [ fhir:value "Phase is unknown" ]
  ] .

# - ontology header ------------------------------------------------------------

<http://hl7.org/fhir/CodeSystem/sequence-phase-relationship-cs.ttl> a owl:Ontology ;
  owl:imports fhir:fhir.ttl ;
  owl:versionIRI <http://build.fhir.org/CodeSystem/sequence-phase-relationship-cs.ttl> .