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
: PharmGKB Evidence Level Example 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/pharmgkb-evidence-level-custom-cs> a fhir:CodeSystem ;
fhir:nodeRole fhir:treeRoot ;
fhir:Resource.id [ fhir:value "pharmgkb-evidence-level-custom-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 pharmgkb-evidence-level-custom-cs</b></p><a name=\"pharmgkb-evidence-level-custom-cs\"> </a><a name=\"hcpharmgkb-evidence-level-custom-cs\"> </a><p>This case-sensitive code system <code>http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/pharmgkb-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\">1A<a name=\"pharmgkb-evidence-level-custom-cs-1A\"> </a></td><td>PGKB 1A</td><td>High level of evidence. Supported by a guideline or FDA label with variant specific prescribing guidance. Additionally, supported by at least one publication.</td></tr><tr><td style=\"white-space:nowrap\">1B<a name=\"pharmgkb-evidence-level-custom-cs-1B\"> </a></td><td>PGKB 1B</td><td>High level of evidence. But, NOT supported by a guideline or FDA label with variant specific prescribing guidance. Additionally, supported by at least one publication.</td></tr><tr><td style=\"white-space:nowrap\">2A<a name=\"pharmgkb-evidence-level-custom-cs-2A\"> </a></td><td>PGKB 2A</td><td>Moderate level of evidence. Supported by being a KNOWN pharmacogene on https://www.pharmgkb.org/vips. Also, found in multiple studies but may have a minority of studies that did not support the majority opinion. Supported by at least two indpendent publications.</td></tr><tr><td style=\"white-space:nowrap\">2B<a name=\"pharmgkb-evidence-level-custom-cs-2B\"> </a></td><td>PGKB 2B</td><td>Moderate level of evidence. NOT in the list of very important, KNOWN pharmacogenes. Found in multiple studies but may have a minority of studies that did not support the majority opinion. Supported by at least two indpendent publications.</td></tr><tr><td style=\"white-space:nowrap\">3<a name=\"pharmgkb-evidence-level-custom-cs-3\"> </a></td><td>PGKB 3</td><td>Low-level of evidence. Where either the assocation is based on a single study, failed to be reproduced, or preliminary evidence.</td></tr><tr><td style=\"white-space:nowrap\">4<a name=\"pharmgkb-evidence-level-custom-cs-4\"> </a></td><td>PGKB 4</td><td>The evidence does not support an association between the variant and the drug phenotype. (negative)</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/pharmgkb-evidence-level-custom-cs"] ;
fhir:CodeSystem.version [ fhir:value "4.0.0-cibuild"] ;
fhir:CodeSystem.name [ fhir:value "PharmGKBEvidenceLevelCustomCS"] ;
fhir:CodeSystem.title [ fhir:value "PharmGKB Evidence Level Example 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 "PharmGKB contains examples of evidence level concepts that are not conflated with clinical significance. These can be found on PharmGKB https://www.pharmgkb.org/page/clinAnnLevels. These examples are informational only, for copyright information contact the relevant source."] ;
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 "6"^^xsd:nonNegativeInteger] ;
fhir:CodeSystem.concept [
fhir:index 0 ;
fhir:CodeSystem.concept.code [ fhir:value "1A" ] ;
fhir:CodeSystem.concept.display [ fhir:value "PGKB 1A" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "High level of evidence. Supported by a guideline or FDA label with variant specific prescribing guidance. Additionally, supported by at least one publication." ]
], [
fhir:index 1 ;
fhir:CodeSystem.concept.code [ fhir:value "1B" ] ;
fhir:CodeSystem.concept.display [ fhir:value "PGKB 1B" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "High level of evidence. But, NOT supported by a guideline or FDA label with variant specific prescribing guidance. Additionally, supported by at least one publication." ]
], [
fhir:index 2 ;
fhir:CodeSystem.concept.code [ fhir:value "2A" ] ;
fhir:CodeSystem.concept.display [ fhir:value "PGKB 2A" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "Moderate level of evidence. Supported by being a KNOWN pharmacogene on https://www.pharmgkb.org/vips. Also, found in multiple studies but may have a minority of studies that did not support the majority opinion. Supported by at least two indpendent publications." ]
], [
fhir:index 3 ;
fhir:CodeSystem.concept.code [ fhir:value "2B" ] ;
fhir:CodeSystem.concept.display [ fhir:value "PGKB 2B" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "Moderate level of evidence. NOT in the list of very important, KNOWN pharmacogenes. Found in multiple studies but may have a minority of studies that did not support the majority opinion. Supported by at least two indpendent publications." ]
], [
fhir:index 4 ;
fhir:CodeSystem.concept.code [ fhir:value "3" ] ;
fhir:CodeSystem.concept.display [ fhir:value "PGKB 3" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "Low-level of evidence. Where either the assocation is based on a single study, failed to be reproduced, or preliminary evidence." ]
], [
fhir:index 5 ;
fhir:CodeSystem.concept.code [ fhir:value "4" ] ;
fhir:CodeSystem.concept.display [ fhir:value "PGKB 4" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "The evidence does not support an association between the variant and the drug phenotype. (negative)" ]
] .
# - ontology header ------------------------------------------------------------
<http://hl7.org/fhir/CodeSystem/pharmgkb-evidence-level-custom-cs.ttl> a owl:Ontology ;
owl:imports fhir:fhir.ttl ;
owl:versionIRI <http://build.fhir.org/CodeSystem/pharmgkb-evidence-level-custom-cs.ttl> .
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