Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build

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

## : Knowledge Base Codes - TTL Representation

Page standards status: Informative

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    @prefix fhir: <http://hl7.org/fhir/> .
    @prefix owl: <http://www.w3.org/2002/07/owl#> .
    @prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
    @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 "knowledge-base-cs"] ; #
      fhir:text [
    fhir:status [ fhir:v "generated" ] ;
    fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem knowledge-base-cs</b></p><a name=\"knowledge-base-cs\"> </a><a name=\"hcknowledge-base-cs\"> </a><p>This case-insensitive code system <code>http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/knowledge-base-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\">gnomadv4.1exome<a name=\"knowledge-base-cs-gnomadv4.461exome\"> </a></td><td>gnomad v4.1 exome</td><td>gnomAD version 4.1 exome</td></tr><tr><td style=\"white-space:nowrap\">gnomadv4.1genome<a name=\"knowledge-base-cs-gnomadv4.461genome\"> </a></td><td>gnomad v4.1 genome</td><td>gnomAD version 4.1 genome</td></tr><tr><td style=\"white-space:nowrap\">clinvar-april2024<a name=\"knowledge-base-cs-clinvar-april2024\"> </a></td><td>clinvar april 2024</td><td>Clinvar April 2024 release</td></tr><tr><td style=\"white-space:nowrap\">clinvar-march2024<a name=\"knowledge-base-cs-clinvar-march2024\"> </a></td><td>clinvar march 2024</td><td>Clinvar March 2024 release</td></tr><tr><td style=\"white-space:nowrap\">1000genomesv4.1.0<a name=\"knowledge-base-cs-1000genomesv4.461.460\"> </a></td><td>1000genomes v4.1.0</td><td>1000genomes version 4.1.0</td></tr><tr><td style=\"white-space:nowrap\">civicv1.2.0<a name=\"knowledge-base-cs-civicv1.462.460\"> </a></td><td>civic v1.2.0</td><td>CIViC version 1.2.0</td></tr><tr><td style=\"white-space:nowrap\">graspv2.1.0<a name=\"knowledge-base-cs-graspv2.461.460\"> </a></td><td>grasp v2.1.0</td><td>GRASP version 2.1.0</td></tr><tr><td style=\"white-space:nowrap\">oncokbv1.5.2<a name=\"knowledge-base-cs-oncokbv1.465.462\"> </a></td><td>oncokb v1.5.2</td><td>OncoKB version 1.5.2</td></tr><tr><td style=\"white-space:nowrap\">pharmgkbv2.3.5<a name=\"knowledge-base-cs-pharmgkbv2.463.465\"> </a></td><td>pharmgkb v2.3.5</td><td>PharmGKB version 2.3.5</td></tr><tr><td style=\"white-space:nowrap\">phastconsv3.6.0<a name=\"knowledge-base-cs-phastconsv3.466.460\"> </a></td><td>phascons v.3.6.0</td><td>PhastCons version 3.6.0</td></tr></table></div>"^^rdf:XMLLiteral ]
      ] ; #
      fhir:extension ( [
    fhir:url [
    fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/StructureDefinition/structuredefinition-wg>     ] ;
    fhir:value [
    a fhir:Code ;
    fhir:v "cg"     ]
      ] [
    fhir:url [
    fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status>     ] ;
    fhir:value [
    a fhir:Code ;
    fhir:v "informative" ;
          ( fhir:extension [
    fhir:url [
    fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom>         ] ;
    fhir:value [
    a fhir:Canonical ;
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting>         ]       ] )     ]
      ] ) ; #
      fhir:url [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/knowledge-base-cs"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/knowledge-base-cs>
      ] ; #
      fhir:version [ fhir:v "4.0.0-cibuild"] ; #
      fhir:name [ fhir:v "KnowledgeBaseCS"] ; #
      fhir:title [ fhir:v "Knowledge Base Codes"] ; #
      fhir:status [ fhir:v "active"] ; #
      fhir:experimental [ fhir:v true] ; #
      fhir:date [ fhir:v "2025-11-08T00:09:50+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 "This example code systems provides examples on how to properly display the knowledge base version number. Version numbers should always be followed by the letter v and calendar dates are displayed Month Day Year. For clarity the month SHALL be written in full."] ; #
      fhir:jurisdiction ( [
        ( fhir:coding [
    fhir:system [
    fhir:v "http://unstats.un.org/unsd/methods/m49/m49.htm"^^xsd:anyURI ;
    fhir:l <http://unstats.un.org/unsd/methods/m49/m49.htm>       ] ;
    fhir:code [ fhir:v "001" ] ;
    fhir:display [ fhir:v "World" ]     ] )
      ] ) ; #
      fhir:caseSensitive [ fhir:v false] ; #
      fhir:content [ fhir:v "complete"] ; #
      fhir:count [ fhir:v "10"^^xsd:nonNegativeInteger] ; #
      fhir:concept ( [
    fhir:code [ fhir:v "gnomadv4.1exome" ] ;
    fhir:display [ fhir:v "gnomad v4.1 exome" ] ;
    fhir:definition [ fhir:v "gnomAD version 4.1 exome" ]
      ] [
    fhir:code [ fhir:v "gnomadv4.1genome" ] ;
    fhir:display [ fhir:v "gnomad v4.1 genome" ] ;
    fhir:definition [ fhir:v "gnomAD version 4.1 genome" ]
      ] [
    fhir:code [ fhir:v "clinvar-april2024" ] ;
    fhir:display [ fhir:v "clinvar april 2024" ] ;
    fhir:definition [ fhir:v "Clinvar April 2024 release" ]
      ] [
    fhir:code [ fhir:v "clinvar-march2024" ] ;
    fhir:display [ fhir:v "clinvar march 2024" ] ;
    fhir:definition [ fhir:v "Clinvar March 2024 release" ]
      ] [
    fhir:code [ fhir:v "1000genomesv4.1.0" ] ;
    fhir:display [ fhir:v "1000genomes v4.1.0" ] ;
    fhir:definition [ fhir:v "1000genomes version 4.1.0" ]
      ] [
    fhir:code [ fhir:v "civicv1.2.0" ] ;
    fhir:display [ fhir:v "civic v1.2.0" ] ;
    fhir:definition [ fhir:v "CIViC version 1.2.0" ]
      ] [
    fhir:code [ fhir:v "graspv2.1.0" ] ;
    fhir:display [ fhir:v "grasp v2.1.0" ] ;
    fhir:definition [ fhir:v "GRASP version 2.1.0" ]
      ] [
    fhir:code [ fhir:v "oncokbv1.5.2" ] ;
    fhir:display [ fhir:v "oncokb v1.5.2" ] ;
    fhir:definition [ fhir:v "OncoKB version 1.5.2" ]
      ] [
    fhir:code [ fhir:v "pharmgkbv2.3.5" ] ;
    fhir:display [ fhir:v "pharmgkb v2.3.5" ] ;
    fhir:definition [ fhir:v "PharmGKB version 2.3.5" ]
      ] [
    fhir:code [ fhir:v "phastconsv3.6.0" ] ;
    fhir:display [ fhir:v "phascons v.3.6.0" ] ;
    fhir:definition [ fhir:v "PhastCons version 3.6.0" ]
      ] ) . #