This page is part of the ICHOM FHIR Implementation Guide: Breast Cancer (v1.0.0: STU 1) based on FHIR R4. This is the current published version. For a full list of available versions, see the Directory of published versions 
: Germline Mutation ValueSet - 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 "GermlineMutationVS"] ; #
fhir:text [
fhir:status [ fhir:v "extensions" ] ;
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://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/445180002\">445180002</a></td><td>Breast cancer genetic marker of susceptibility not detected (finding)</td></tr><tr><td><a href=\"http://snomed.info/id/412734009\">412734009</a></td><td>BRCA1 gene mutation positive (finding)</td></tr><tr><td><a href=\"http://snomed.info/id/412738007\">412738007</a></td><td>BRCA2 gene mutation detected (finding)</td></tr><tr><td><a href=\"http://snomed.info/id/416237000\">416237000</a></td><td>Procedure not done (situation)</td></tr></table></li><li>Include these codes as defined in <a href=\"http://terminology.hl7.org/5.0.0/CodeSystem-v3-NullFlavor.html\"><code>http://terminology.hl7.org/CodeSystem/v3-NullFlavor</code></a><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td></tr><tr><td><a href=\"http://terminology.hl7.org/5.0.0/CodeSystem-v3-NullFlavor.html#v3-NullFlavor-OTH\">OTH</a></td><td>other</td><td>**Description:**The actual value is not a member of the set of permitted data values in the constrained value domain of a variable. (e.g., concept not provided by required code system).<br/><br/>**Usage Notes**: This flavor and its specializations are most commonly used with the CD datatype and its flavors. However, it may apply to \\*any\\* datatype where the constraints of the type are tighter than can be conveyed. For example, a PQ that is for a true measured amount whose units are not supported in UCUM, a need to convey a REAL when the type has been constrained to INT, etc.<br/><br/>With coded datatypes, this null flavor may only be used if the vocabulary binding has a coding strength of CNE. By definition, all local codes and original text are part of the value set if the coding strength is CWE.</td></tr></table></li></ul></div>"
] ; #
fhir:extension ( [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm"^^xsd:anyURI ] ;
fhir:value [
fhir:v "2"^^xsd:integer ;
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom"^^xsd:anyURI ] ;
fhir:value [
fhir:v "http://hl7.org/fhir/uv/ichom-breast-cancer/ImplementationGuide/hl7.fhir.uv.ichom-breast-cancer"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/uv/ichom-breast-cancer/ImplementationGuide/hl7.fhir.uv.ichom-breast-cancer> ] ] ) ]
] [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status"^^xsd:anyURI ] ;
fhir:value [
fhir:v "trial-use" ;
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom"^^xsd:anyURI ] ;
fhir:value [
fhir:v "http://hl7.org/fhir/uv/ichom-breast-cancer/ImplementationGuide/hl7.fhir.uv.ichom-breast-cancer"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/uv/ichom-breast-cancer/ImplementationGuide/hl7.fhir.uv.ichom-breast-cancer> ] ] ) ]
] ) ; #
fhir:url [ fhir:v "http://hl7.org/fhir/uv/ichom-breast-cancer/ValueSet/GermlineMutationVS"^^xsd:anyURI] ; #
fhir:version [ fhir:v "1.0.0"] ; #
fhir:name [ fhir:v "GermlineMutationVS"] ; #
fhir:title [ fhir:v "Germline Mutation ValueSet"] ; #
fhir:status [ fhir:v "active"] ; #
fhir:experimental [ fhir:v "false"^^xsd:boolean] ; #
fhir:date [ fhir:v "2023-08-21T17:29:06+00:00"^^xsd:dateTime] ; #
fhir:publisher [ fhir:v "HL7 International - Clinical Interoperability Council Group"] ; #
fhir:contact ( [
fhir:name [ fhir:v "HL7 International - Clinical Interoperability Council Group" ] ;
( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "http://www.hl7.org/Special/committees/cic" ] ] )
] ) ; #
fhir:description [ fhir:v "Valueset of the genetic mutation predisposing breast cancer"] ; #
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 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://snomed.info/sct"^^xsd:anyURI ] ;
( fhir:concept [
fhir:code [ fhir:v "445180002" ] ;
fhir:display [ fhir:v "Breast cancer genetic marker of susceptibility not detected (finding)" ] ] [
fhir:code [ fhir:v "412734009" ] ;
fhir:display [ fhir:v "BRCA1 gene mutation positive (finding)" ] ] [
fhir:code [ fhir:v "412738007" ] ;
fhir:display [ fhir:v "BRCA2 gene mutation detected (finding)" ] ] [
fhir:code [ fhir:v "416237000" ] ;
fhir:display [ fhir:v "Procedure not done (situation)" ] ] ) ] [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/v3-NullFlavor"^^xsd:anyURI ] ;
( fhir:concept [
fhir:code [ fhir:v "OTH" ] ;
fhir:display [ fhir:v "other" ] ] ) ] )
] . #
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