Phenomics Exchange for Research and Diagnostics, published by HL7 International / Clinical Interoperability Council. This guide is not an authorized publication; it is the continuous build for version 0.1.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/phenomics-exchange-ig/ and changes regularly. See the Directory of published versions

• Narrative Content
• XML
• JSON
• TTL

: ACMG Pathogenicity Classification Value Set - TTL Representation

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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:ValueSet ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "acmgPathogenicityClassification-vs"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "http://hl7.org/fhir/StructureDefinition/shareablevalueset"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/StructureDefinition/shareablevalueset>     ] )
  ] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><ul><li>Include these codes as defined in <code>http://phenopacket-schema.readthedocs.io/en/v2/variant-interpretation.html#acmgpathogenicityclassification</code><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td>0</td><td>NOT_PROVIDED</td></tr><tr><td>1</td><td>BENIGN</td></tr><tr><td>2</td><td>LIKELY_BENIGN</td></tr><tr><td>3</td><td>UNCERTAIN_SIGNIFICANCE</td></tr><tr><td>4</td><td>LIKELY_PATHOGENIC</td></tr><tr><td>5</td><td>PATHOGENIC</td></tr></table></li></ul></div>"
  ] ; # 
  fhir:extension ( [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg"^^xsd:anyURI ] ;
fhir:value [ fhir:v "cic" ]
  ] ) ; # 
  fhir:url [ fhir:v "http://hl7.org/fhir/uv/phenomics-exchange/ValueSet/acmgPathogenicityClassification-vs"^^xsd:anyURI] ; # 
  fhir:version [ fhir:v "0.1.0"] ; # 
  fhir:name [ fhir:v "AcmgPathogenicityClassificationVS"] ; # 
  fhir:title [ fhir:v "ACMG Pathogenicity Classification Value Set"] ; # 
  fhir:status [ fhir:v "draft"] ; # 
  fhir:experimental [ fhir:v "false"^^xsd:boolean] ; # 
  fhir:date [ fhir:v "2024-06-18T22:11:07+00:00"^^xsd:dateTime] ; # 
  fhir:publisher [ fhir:v "HL7 International / Clinical Interoperability Council"] ; # 
  fhir:contact ( [
fhir:name [ fhir:v "HL7 International / Clinical Interoperability Council" ] ;
    ( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "http://www.hl7.org/Special/committees/cic" ]     ] [
fhir:system [ fhir:v "email" ] ;
fhir:value [ fhir:v "cic@lists.HL7.org" ]     ] )
  ] ) ; # 
  fhir:description [ fhir:v "Describes the ACMG five-tier pathogenicity classification system (Richards et al., 2015, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4544753/)."] ; # 
  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:copyright [ fhir:v "This value set includes content from Phenopackets, which is copyright © 2016+ Global Alliance for Genomics and Health (GA4GH)"] ; # 
  fhir:compose [
    ( fhir:include [
fhir:system [ fhir:v "http://phenopacket-schema.readthedocs.io/en/v2/variant-interpretation.html#acmgpathogenicityclassification"^^xsd:anyURI ] ;
      ( fhir:concept [
fhir:code [ fhir:v "0" ] ;
fhir:display [ fhir:v "NOT_PROVIDED" ]       ] [
fhir:code [ fhir:v "1" ] ;
fhir:display [ fhir:v "BENIGN" ]       ] [
fhir:code [ fhir:v "2" ] ;
fhir:display [ fhir:v "LIKELY_BENIGN" ]       ] [
fhir:code [ fhir:v "3" ] ;
fhir:display [ fhir:v "UNCERTAIN_SIGNIFICANCE" ]       ] [
fhir:code [ fhir:v "4" ] ;
fhir:display [ fhir:v "LIKELY_PATHOGENIC" ]       ] [
fhir:code [ fhir:v "5" ] ;
fhir:display [ fhir:v "PATHOGENIC" ]       ] )     ] )
  ] . #