Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 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
: Variant Confidence Status 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 -------------------------------------------------------------------
a fhir:CodeSystem ;
fhir:nodeRole fhir:treeRoot ;
fhir:id [ fhir:v "variant-confidence-status-cs"] ; #
fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem variant-confidence-status-cs</b></p><a name=\"variant-confidence-status-cs\"> </a><a name=\"hcvariant-confidence-status-cs\"> </a><a name=\"variant-confidence-status-cs-en-US\"> </a><p>This case-sensitive code system <code>http://terminology.hl7.org/CodeSystem/variant-confidence-status-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\">high<a name=\"variant-confidence-status-cs-high\"> </a></td><td>High</td><td>High confidence true positive variant call. Suitable for clinical reporting.</td></tr><tr><td style=\"white-space:nowrap\">intermediate<a name=\"variant-confidence-status-cs-intermediate\"> </a></td><td>Intermediate</td><td>Candidate true positive variant call. Unable to confirm without additional testing.</td></tr><tr><td style=\"white-space:nowrap\">low<a name=\"variant-confidence-status-cs-low\"> </a></td><td>Low</td><td>High confidence false positive variant call.</td></tr></table></div>"
] ; #
fhir:extension ( [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg"^^xsd:anyURI ] ;
fhir:value [ fhir:v "cg" ]
] ) ; #
fhir:url [ fhir:v "http://terminology.hl7.org/CodeSystem/variant-confidence-status-cs"^^xsd:anyURI] ; #
fhir:version [ fhir:v "3.0.0"] ; #
fhir:name [ fhir:v "VariantConfidenceStatusCS"] ; #
fhir:title [ fhir:v "Variant Confidence Status Codes"] ; #
fhir:status [ fhir:v "active"] ; #
fhir:experimental [ fhir:v "true"^^xsd:boolean] ; #
fhir:date [ fhir:v "2024-12-12T20:13:16+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 "A code that represents the confidence of a true positive variant call."] ; #
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:caseSensitive [ fhir:v "true"^^xsd:boolean] ; #
fhir:content [ fhir:v "complete"] ; #
fhir:count [ fhir:v "3"^^xsd:nonNegativeInteger] ; #
fhir:concept ( [
fhir:code [ fhir:v "high" ] ;
fhir:display [ fhir:v "High" ] ;
fhir:definition [ fhir:v "High confidence true positive variant call. Suitable for clinical reporting." ]
] [
fhir:code [ fhir:v "intermediate" ] ;
fhir:display [ fhir:v "Intermediate" ] ;
fhir:definition [ fhir:v "Candidate true positive variant call. Unable to confirm without additional testing." ]
] [
fhir:code [ fhir:v "low" ] ;
fhir:display [ fhir:v "Low" ] ;
fhir:definition [ fhir:v "High confidence false positive variant call." ]
] ) . #
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