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

: ClinVar Evidence Level Example Codes - 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 "clinvar-evidence-level-custom-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/clinvar-evidence-level-custom-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\">4-star<a name=\"clinvar-evidence-level-custom-cs-4-star\"> </a></td><td>4 star</td><td>Supported by practice guideline</td></tr><tr><td style=\"white-space:nowrap\">3-star<a name=\"clinvar-evidence-level-custom-cs-3-star\"> </a></td><td>3 star</td><td>Supported by expert panel review</td></tr><tr><td style=\"white-space:nowrap\">2-star<a name=\"clinvar-evidence-level-custom-cs-2-star\"> </a></td><td>2 star</td><td>Supported by submission by multiple-submitters with documentation of criteria for assertion</td></tr><tr><td style=\"white-space:nowrap\">1-star<a name=\"clinvar-evidence-level-custom-cs-1-star\"> </a></td><td>1 star</td><td>Single submitter providing interpretation and documentation of criteria for assertion</td></tr><tr><td style=\"white-space:nowrap\">no-star<a name=\"clinvar-evidence-level-custom-cs-no-star\"> </a></td><td>no star</td><td>submitted, no evidence</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/clinvar-evidence-level-custom-cs"^^xsd:anyURI] ; # 
  fhir:version [ fhir:v "3.0.0-ballot"] ; # 
  fhir:name [ fhir:v "ClinVarEvidenceLevelCustomCS"] ; # 
  fhir:title [ fhir:v "ClinVar Evidence Level Example Codes"] ; # 
  fhir:status [ fhir:v "active"] ; # 
  fhir:experimental [ fhir:v "false"^^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 "ClinVar contains examples of evidence level concepts that are not conflated with clinical significance. These can be found on  ClinVar https://www.ncbi.nlm.nih.gov/clinvar/docs/review_status/ . These examples are informational only, for copyright information contact the relevant source."] ; # 
  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 "4-star" ] ;
fhir:display [ fhir:v "4 star" ] ;
fhir:definition [ fhir:v "Supported by practice guideline" ]
  ] [
fhir:code [ fhir:v "3-star" ] ;
fhir:display [ fhir:v "3 star" ] ;
fhir:definition [ fhir:v "Supported by expert panel review" ]
  ] [
fhir:code [ fhir:v "2-star" ] ;
fhir:display [ fhir:v "2 star" ] ;
fhir:definition [ fhir:v "Supported by submission by multiple-submitters with documentation of criteria for assertion" ]
  ] [
fhir:code [ fhir:v "1-star" ] ;
fhir:display [ fhir:v "1 star" ] ;
fhir:definition [ fhir:v "Single submitter providing interpretation and documentation of criteria for assertion" ]
  ] [
fhir:code [ fhir:v "no-star" ] ;
fhir:display [ fhir:v "no star" ] ;
fhir:definition [ fhir:v "submitted, no evidence" ]
  ] ) . #