This page is part of the FHIR Core Extensions Registry (v5.1.0: Release 5.1) based on FHIR (HL7® FHIR® Standard) v5.0.0. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions
: Genetic Observation Secondary Findings Code System - 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 "secondary-finding"] ; #
fhir:meta [
fhir:lastUpdated [ fhir:v "2023-01-31T07:07:38.434+11:00"^^xsd:dateTime ] ;
( fhir:profile [
fhir:v "http://hl7.org/fhir/StructureDefinition/shareablecodesystem"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/StructureDefinition/shareablecodesystem> ] )
] ; #
fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p>This case-sensitive code system <code>http://hl7.org/fhir/secondary-finding</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\">acmg-version1<a name=\"secondary-finding-acmg-version1\"> </a></td><td>ACMG Version 1</td><td>First release (2013): ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3727274/</td></tr><tr><td style=\"white-space:nowrap\">acmg-version2<a name=\"secondary-finding-acmg-version2\"> </a></td><td>ACMG Version 2</td><td>Second release (2016): Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. https://www.ncbi.nlm.nih.gov/pubmed/27854360</td></tr></table></div>"
] ; #
fhir:extension ( [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg"^^xsd:anyURI ] ;
fhir:value [ fhir:v "oo" ]
] [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status"^^xsd:anyURI ] ;
fhir:value [ fhir:v "trial-use" ]
] [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm"^^xsd:anyURI ] ;
fhir:value [ fhir:v "3"^^xsd:integer ]
] ) ; #
fhir:url [ fhir:v "http://hl7.org/fhir/secondary-finding"^^xsd:anyURI] ; #
fhir:identifier ( [
fhir:system [ fhir:v "urn:ietf:rfc:3986"^^xsd:anyURI ] ;
fhir:value [ fhir:v "urn:oid:2.16.840.1.113883.4.642.4.1286" ]
] ) ; #
fhir:version [ fhir:v "5.1.0"] ; #
fhir:name [ fhir:v "GeneticObservationSecondaryFindings"] ; #
fhir:title [ fhir:v "Genetic Observation Secondary Findings Code System"] ; #
fhir:status [ fhir:v "active"] ; #
fhir:experimental [ fhir:v "false"^^xsd:boolean] ; #
fhir:date [ fhir:v "2024-04-27T18:40:24+10:00"^^xsd:dateTime] ; #
fhir:publisher [ fhir:v "HL7 International / Orders and Observations"] ; #
fhir:contact ( [
( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "http://www.hl7.org/Special/committees/orders" ] ] )
] ) ; #
fhir:description [ fhir:v "Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding."] ; #
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:caseSensitive [ fhir:v "true"^^xsd:boolean] ; #
fhir:valueSet [
fhir:v "http://hl7.org/fhir/ValueSet/secondary-finding"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/ValueSet/secondary-finding>
] ; #
fhir:content [ fhir:v "complete"] ; #
fhir:concept ( [
fhir:code [ fhir:v "acmg-version1" ] ;
fhir:display [ fhir:v "ACMG Version 1" ] ;
fhir:definition [ fhir:v "First release (2013): ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3727274/" ]
] [
fhir:code [ fhir:v "acmg-version2" ] ;
fhir:display [ fhir:v "ACMG Version 2" ] ;
fhir:definition [ fhir:v "Second release (2016): Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. https://www.ncbi.nlm.nih.gov/pubmed/27854360" ]
] ) . #
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