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
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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/knowledge-base-cs> a fhir:CodeSystem ;
fhir:nodeRole fhir:treeRoot ;
fhir:Resource.id [ fhir:value "knowledge-base-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 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>"
] ;
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-standards-status" ] ;
fhir:Extension.valueCode [
fhir:value "informative" ;
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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/knowledge-base-cs"] ;
fhir:CodeSystem.version [ fhir:value "4.0.0-cibuild"] ;
fhir:CodeSystem.name [ fhir:value "KnowledgeBaseCS"] ;
fhir:CodeSystem.title [ fhir:value "Knowledge Base Codes"] ;
fhir:CodeSystem.status [ fhir:value "active"] ;
fhir:CodeSystem.experimental [ fhir:value "true"^^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 "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: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 "false"^^xsd:boolean] ;
fhir:CodeSystem.content [ fhir:value "complete"] ;
fhir:CodeSystem.count [ fhir:value "10"^^xsd:nonNegativeInteger] ;
fhir:CodeSystem.concept [
fhir:index 0 ;
fhir:CodeSystem.concept.code [ fhir:value "gnomadv4.1exome" ] ;
fhir:CodeSystem.concept.display [ fhir:value "gnomad v4.1 exome" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "gnomAD version 4.1 exome" ]
], [
fhir:index 1 ;
fhir:CodeSystem.concept.code [ fhir:value "gnomadv4.1genome" ] ;
fhir:CodeSystem.concept.display [ fhir:value "gnomad v4.1 genome" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "gnomAD version 4.1 genome" ]
], [
fhir:index 2 ;
fhir:CodeSystem.concept.code [ fhir:value "clinvar-april2024" ] ;
fhir:CodeSystem.concept.display [ fhir:value "clinvar april 2024" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "Clinvar April 2024 release" ]
], [
fhir:index 3 ;
fhir:CodeSystem.concept.code [ fhir:value "clinvar-march2024" ] ;
fhir:CodeSystem.concept.display [ fhir:value "clinvar march 2024" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "Clinvar March 2024 release" ]
], [
fhir:index 4 ;
fhir:CodeSystem.concept.code [ fhir:value "1000genomesv4.1.0" ] ;
fhir:CodeSystem.concept.display [ fhir:value "1000genomes v4.1.0" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "1000genomes version 4.1.0" ]
], [
fhir:index 5 ;
fhir:CodeSystem.concept.code [ fhir:value "civicv1.2.0" ] ;
fhir:CodeSystem.concept.display [ fhir:value "civic v1.2.0" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "CIViC version 1.2.0" ]
], [
fhir:index 6 ;
fhir:CodeSystem.concept.code [ fhir:value "graspv2.1.0" ] ;
fhir:CodeSystem.concept.display [ fhir:value "grasp v2.1.0" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "GRASP version 2.1.0" ]
], [
fhir:index 7 ;
fhir:CodeSystem.concept.code [ fhir:value "oncokbv1.5.2" ] ;
fhir:CodeSystem.concept.display [ fhir:value "oncokb v1.5.2" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "OncoKB version 1.5.2" ]
], [
fhir:index 8 ;
fhir:CodeSystem.concept.code [ fhir:value "pharmgkbv2.3.5" ] ;
fhir:CodeSystem.concept.display [ fhir:value "pharmgkb v2.3.5" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "PharmGKB version 2.3.5" ]
], [
fhir:index 9 ;
fhir:CodeSystem.concept.code [ fhir:value "phastconsv3.6.0" ] ;
fhir:CodeSystem.concept.display [ fhir:value "phascons v.3.6.0" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "PhastCons version 3.6.0" ]
] .
# - ontology header ------------------------------------------------------------
<http://hl7.org/fhir/CodeSystem/knowledge-base-cs.ttl> a owl:Ontology ;
owl:imports fhir:fhir.ttl ;
owl:versionIRI <http://build.fhir.org/CodeSystem/knowledge-base-cs.ttl> .
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