Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT 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
: Genetic Therapeutic Implications - 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:ValueSet ;
fhir:nodeRole fhir:treeRoot ;
fhir:id [ fhir:v "genetic-therapeutic-implications-vs"] ; #
fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p>This value set includes codes based on the following rules:</p><ul><li>Include these codes as defined in <a href=\"http://loinc.org\"><code>http://loinc.org</code></a><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td><a href=\"https://loinc.org/LA10315-2/\">LA10315-2</a></td><td>Ultrarapid metabolizer</td></tr><tr><td><a href=\"https://loinc.org/LA25391-6/\">LA25391-6</a></td><td>Normal metabolizer</td></tr><tr><td><a href=\"https://loinc.org/LA25390-8/\">LA25390-8</a></td><td>Rapid metabolizer</td></tr><tr><td><a href=\"https://loinc.org/LA10317-8/\">LA10317-8</a></td><td>Intermediate metabolizer</td></tr><tr><td><a href=\"https://loinc.org/LA9657-3/\">LA9657-3</a></td><td>Poor metabolizer</td></tr><tr><td><a href=\"https://loinc.org/LA19542-2/\">LA19542-2</a></td><td>Low Risk</td></tr><tr><td><a href=\"https://loinc.org/LA19541-4/\">LA19541-4</a></td><td>High Risk</td></tr><tr><td><a href=\"https://loinc.org/LA6676-6/\">LA6676-6</a></td><td>Resistant</td></tr><tr><td><a href=\"https://loinc.org/LA6677-4/\">LA6677-4</a></td><td>Responsive</td></tr><tr><td><a href=\"https://loinc.org/LA9660-7/\">LA9660-7</a></td><td>Presumed resistant</td></tr><tr><td><a href=\"https://loinc.org/LA9661-5/\">LA9661-5</a></td><td>Presumed responsive</td></tr><tr><td><a href=\"https://loinc.org/LA6682-4/\">LA6682-4</a></td><td>Unknown Significance</td></tr><tr><td><a href=\"https://loinc.org/LA6675-8/\">LA6675-8</a></td><td>Benign</td></tr><tr><td><a href=\"https://loinc.org/LA6674-1/\">LA6674-1</a></td><td>Presumed Benign</td></tr><tr><td><a href=\"https://loinc.org/LA9662-3/\">LA9662-3</a></td><td>Presumed non-responsive</td></tr><tr><td><a href=\"https://loinc.org/LA25392-4/\">LA25392-4</a></td><td>Increased function</td></tr><tr><td><a href=\"https://loinc.org/LA25393-2/\">LA25393-2</a></td><td>Normal function</td></tr><tr><td><a href=\"https://loinc.org/LA25395-7/\">LA25395-7</a></td><td>Decreased function</td></tr><tr><td><a href=\"https://loinc.org/LA25394-0/\">LA25394-0</a></td><td>Poor function</td></tr></table></li><li>Include these codes as defined in <a href=\"http://www.snomed.org/\"><code>http://snomed.info/sct</code></a><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td><a href=\"http://snomed.info/id/444734003\">444734003</a></td><td>Does not meet eligibility criteria for clinical trial (finding)</td></tr><tr><td><a href=\"http://snomed.info/id/399223003\">399223003</a></td><td>Patient eligible for clinical trial (finding)</td></tr></table></li></ul></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://hl7.org/fhir/uv/genomics-reporting/ValueSet/genetic-therapeutic-implications-vs"^^xsd:anyURI] ; #
fhir:version [ fhir:v "3.0.1-SNAPSHOT"] ; #
fhir:name [ fhir:v "GeneticTherapeuticImplicationsVS"] ; #
fhir:title [ fhir:v "Genetic Therapeutic Implications"] ; #
fhir:status [ fhir:v "active"] ; #
fhir:experimental [ fhir:v "false"^^xsd:boolean] ; #
fhir:date [ fhir:v "2024-04-09T13:57:55+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 "Value Set for terms that describe a predicted ramification based on the presence of associated molecular finding(s)."] ; #
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:copyright [ fhir:v "This material contains content from LOINC (http://loinc.org). LOINC is copyright © 1995-2020, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license. LOINC® is a registered United States trademark of Regenstrief Institute, Inc.\nThis value set includes content from SNOMED CT, which is copyright © 2002+ International Health Terminology Standards Development Organisation (IHTSDO), and distributed by agreement between IHTSDO and HL7. Implementer use of SNOMED CT is not covered by this agreement."] ; #
fhir:compose [
( fhir:include [
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
( fhir:concept [
fhir:code [ fhir:v "LA10315-2" ] ;
fhir:display [ fhir:v "Ultrarapid metabolizer" ] ] [
fhir:code [ fhir:v "LA25391-6" ] ;
fhir:display [ fhir:v "Normal metabolizer" ] ] [
fhir:code [ fhir:v "LA25390-8" ] ;
fhir:display [ fhir:v "Rapid metabolizer" ] ] [
fhir:code [ fhir:v "LA10317-8" ] ;
fhir:display [ fhir:v "Intermediate metabolizer" ] ] [
fhir:code [ fhir:v "LA9657-3" ] ;
fhir:display [ fhir:v "Poor metabolizer" ] ] [
fhir:code [ fhir:v "LA19542-2" ] ;
fhir:display [ fhir:v "Low Risk" ] ] [
fhir:code [ fhir:v "LA19541-4" ] ;
fhir:display [ fhir:v "High Risk" ] ] [
fhir:code [ fhir:v "LA6676-6" ] ;
fhir:display [ fhir:v "Resistant" ] ] [
fhir:code [ fhir:v "LA6677-4" ] ;
fhir:display [ fhir:v "Responsive" ] ] [
fhir:code [ fhir:v "LA9660-7" ] ;
fhir:display [ fhir:v "Presumed resistant" ] ] [
fhir:code [ fhir:v "LA9661-5" ] ;
fhir:display [ fhir:v "Presumed responsive" ] ] [
fhir:code [ fhir:v "LA6682-4" ] ;
fhir:display [ fhir:v "Unknown Significance" ] ] [
fhir:code [ fhir:v "LA6675-8" ] ;
fhir:display [ fhir:v "Benign" ] ] [
fhir:code [ fhir:v "LA6674-1" ] ;
fhir:display [ fhir:v "Presumed Benign" ] ] [
fhir:code [ fhir:v "LA9662-3" ] ;
fhir:display [ fhir:v "Presumed non-responsive" ] ] [
fhir:code [ fhir:v "LA25392-4" ] ;
fhir:display [ fhir:v "Increased function" ] ] [
fhir:code [ fhir:v "LA25393-2" ] ;
fhir:display [ fhir:v "Normal function" ] ] [
fhir:code [ fhir:v "LA25395-7" ] ;
fhir:display [ fhir:v "Decreased function" ] ] [
fhir:code [ fhir:v "LA25394-0" ] ;
fhir:display [ fhir:v "Poor function" ] ] ) ] [
fhir:system [ fhir:v "http://snomed.info/sct"^^xsd:anyURI ] ;
( fhir:concept [
fhir:code [ fhir:v "444734003" ] ;
fhir:display [ fhir:v "Does not meet eligibility criteria for clinical trial (finding)" ] ] [
fhir:code [ fhir:v "399223003" ] ;
fhir:display [ fhir:v "Patient eligible for clinical trial (finding)" ] ] ) ] )
] . #
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