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
: ClinVar 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/clinvar-evidence-level-custom-cs> a fhir:CodeSystem ;
fhir:nodeRole fhir:treeRoot ;
fhir:Resource.id [ fhir:value "clinvar-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 clinvar-evidence-level-custom-cs</b></p><a name=\"clinvar-evidence-level-custom-cs\"> </a><a name=\"hcclinvar-evidence-level-custom-cs\"> </a><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: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/clinvar-evidence-level-custom-cs"] ;
fhir:CodeSystem.version [ fhir:value "4.0.0-cibuild"] ;
fhir:CodeSystem.name [ fhir:value "ClinVarEvidenceLevelCustomCS"] ;
fhir:CodeSystem.title [ fhir:value "ClinVar 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 "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: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 "5"^^xsd:nonNegativeInteger] ;
fhir:CodeSystem.concept [
fhir:index 0 ;
fhir:CodeSystem.concept.code [ fhir:value "4-star" ] ;
fhir:CodeSystem.concept.display [ fhir:value "4 star" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "Supported by practice guideline" ]
], [
fhir:index 1 ;
fhir:CodeSystem.concept.code [ fhir:value "3-star" ] ;
fhir:CodeSystem.concept.display [ fhir:value "3 star" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "Supported by expert panel review" ]
], [
fhir:index 2 ;
fhir:CodeSystem.concept.code [ fhir:value "2-star" ] ;
fhir:CodeSystem.concept.display [ fhir:value "2 star" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "Supported by submission by multiple-submitters with documentation of criteria for assertion" ]
], [
fhir:index 3 ;
fhir:CodeSystem.concept.code [ fhir:value "1-star" ] ;
fhir:CodeSystem.concept.display [ fhir:value "1 star" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "Single submitter providing interpretation and documentation of criteria for assertion" ]
], [
fhir:index 4 ;
fhir:CodeSystem.concept.code [ fhir:value "no-star" ] ;
fhir:CodeSystem.concept.display [ fhir:value "no star" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "submitted, no evidence" ]
] .
# - ontology header ------------------------------------------------------------
<http://hl7.org/fhir/CodeSystem/clinvar-evidence-level-custom-cs.ttl> a owl:Ontology ;
owl:imports fhir:fhir.ttl ;
owl:versionIRI <http://build.fhir.org/CodeSystem/clinvar-evidence-level-custom-cs.ttl> .
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