HL7 FHIR Implementation Guide: Breast Cancer Data, Release 1 - US Realm (Draft for Comment 2)

This page is part of the Breast Cancer Data Logical Models and FHIR Profiles (v0.2.0: STU 1 Draft) based on FHIR R3. . For a full list of available versions, see the Directory of published versions

BRCA2VariantModel

@prefix fhir: <http://hl7.org/fhir/> .
@prefix loinc: <http://loinc.org/rdf#> .
@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:StructureDefinition;
  fhir:nodeRole fhir:treeRoot;
  fhir:Resource.id [ fhir:value "oncology-BRCA2Variant-model"];
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\">\n  <p><b>BC BRCA2Variant Logical Model</b></p>\n  <p>Whether the patient has a mutation in the BRCA2 gene.</p>\n</div>"
  ];
  fhir:StructureDefinition.url [ fhir:value "http://hl7.org/fhir/us/breastcancer/StructureDefinition/oncology-BRCA2Variant-model"];
  fhir:StructureDefinition.identifier [
     fhir:index 0;
     fhir:Identifier.system [ fhir:value "http://hl7.org/fhir/us/breastcancer" ];
     fhir:Identifier.value [ fhir:value "oncology.BRCA2Variant" ]
  ];
  fhir:StructureDefinition.version [ fhir:value "0.2.0"];
  fhir:StructureDefinition.name [ fhir:value "BRCA2VariantModel"];
  fhir:StructureDefinition.title [ fhir:value "BC BRCA2Variant Logical Model"];
  fhir:StructureDefinition.status [ fhir:value "draft"];
  fhir:StructureDefinition.date [ fhir:value "2018-08-17T00:00:00+10:00"^^xsd:dateTime];
  fhir:StructureDefinition.publisher [ fhir:value "The HL7 Cancer Interoperability Group sponsored by Clinical Interoperability Council Work Group (CIC)"];
  fhir:StructureDefinition.contact [
     fhir:index 0;
     fhir:ContactDetail.telecom [
       fhir:index 0;
       fhir:ContactPoint.system [ fhir:value "url" ];
       fhir:ContactPoint.value [ fhir:value "http://www.hl7.org/Special/committees/cic/index.cfm" ]     ]
  ];
  fhir:StructureDefinition.description [ fhir:value "Whether the patient has a mutation in the BRCA2 gene."];
  fhir:StructureDefinition.keyword [
     fhir:index 0;
     a loinc:38531-0;
     fhir:Coding.system [ fhir:value "http://loinc.org" ];
     fhir:Coding.code [ fhir:value "38531-0" ];
     fhir:Coding.display [ fhir:value "BRCA2 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal" ]
  ];
  fhir:StructureDefinition.kind [ fhir:value "logical"];
  fhir:StructureDefinition.abstract [ fhir:value "false"^^xsd:boolean];
  fhir:StructureDefinition.type [ fhir:value "oncology-BRCA2Variant-model"];
  fhir:StructureDefinition.baseDefinition [ fhir:value "http://hl7.org/fhir/StructureDefinition/Element"];
  fhir:StructureDefinition.derivation [ fhir:value "specialization"];
  fhir:StructureDefinition.snapshot [
     fhir:StructureDefinition.snapshot.element [
       fhir:index 0;
       fhir:Element.id [ fhir:value "oncology-BRCA2Variant-model" ];
       fhir:ElementDefinition.path [ fhir:value "oncology-BRCA2Variant-model" ];
       fhir:ElementDefinition.definition [ fhir:value "Whether the patient has a mutation in the BRCA2 gene." ];
       fhir:ElementDefinition.min [ fhir:value "0"^^xsd:nonNegativeInteger ];
       fhir:ElementDefinition.max [ fhir:value "*" ];
       fhir:ElementDefinition.base [
         fhir:ElementDefinition.base.path [ fhir:value "oncology-BRCA2Variant-model" ];
         fhir:ElementDefinition.base.min [ fhir:value "0"^^xsd:nonNegativeInteger ];
         fhir:ElementDefinition.base.max [ fhir:value "*" ]       ];
       fhir:ElementDefinition.mustSupport [ fhir:value "false"^^xsd:boolean ];
       fhir:ElementDefinition.isModifier [ fhir:value "false"^^xsd:boolean ];
       fhir:ElementDefinition.isSummary [ fhir:value "false"^^xsd:boolean ]     ], [
       fhir:index 1;
       fhir:Element.id [ fhir:value "oncology-BRCA2Variant-model.value" ];
       fhir:ElementDefinition.path [ fhir:value "oncology-BRCA2Variant-model.value" ];
       fhir:ElementDefinition.short [ fhir:value "Code representing whether the patient has a mutation in the BRCA2 gene." ];
       fhir:ElementDefinition.definition [ fhir:value "Code representing whether the patient has a mutation in the BRCA2 gene." ];
       fhir:ElementDefinition.min [ fhir:value "1"^^xsd:nonNegativeInteger ];
       fhir:ElementDefinition.max [ fhir:value "1" ];
       fhir:ElementDefinition.base [
         fhir:ElementDefinition.base.path [ fhir:value "oncology-BRCA2Variant-model.value" ];
         fhir:ElementDefinition.base.min [ fhir:value "1"^^xsd:nonNegativeInteger ];
         fhir:ElementDefinition.base.max [ fhir:value "1" ]       ];
       fhir:ElementDefinition.type [
         fhir:index 0;
         fhir:ElementDefinition.type.code [ fhir:value "Coding" ]       ];
       fhir:ElementDefinition.mustSupport [ fhir:value "false"^^xsd:boolean ];
       fhir:ElementDefinition.isModifier [ fhir:value "false"^^xsd:boolean ];
       fhir:ElementDefinition.isSummary [ fhir:value "false"^^xsd:boolean ];
       fhir:ElementDefinition.binding [
         fhir:ElementDefinition.binding.strength [ fhir:value "required" ];
         fhir:ElementDefinition.binding.valueSetReference [
           fhir:link <http://hl7.org/fhir/us/breastcancer/ValueSet/shr-core-PositiveNegativeVS>;
           fhir:Reference.reference [ fhir:value "http://hl7.org/fhir/us/breastcancer/ValueSet/shr-core-PositiveNegativeVS" ]         ]       ]     ], [
       fhir:index 2;
       fhir:Element.id [ fhir:value "oncology-BRCA2Variant-model.topicCode" ];
       fhir:ElementDefinition.path [ fhir:value "oncology-BRCA2Variant-model.topicCode" ];
       fhir:ElementDefinition.short [ fhir:value "The concept representing the finding or action that is the topic of the statement." ];
       fhir:ElementDefinition.definition [ fhir:value "The concept representing the finding or action that is the topic of the statement.\n\nFor action topics, the TopicCode represents the action being described. For findings, the TopicCode represents the 'question' or property being investigated. For evaluation result findings, the TopicCode contains a concept for an observable entity, such as systolic blood pressure. For assertion findings, the TopicCode contains a code representing the condition, allergy, or other item being asserted. In all cases, the TopicCode describes the topic independent of the context of the action or the finding." ];
       fhir:ElementDefinition.min [ fhir:value "0"^^xsd:nonNegativeInteger ];
       fhir:ElementDefinition.max [ fhir:value "1" ];
       fhir:ElementDefinition.base [
         fhir:ElementDefinition.base.path [ fhir:value "oncology-BRCA2Variant-model.topicCode" ];
         fhir:ElementDefinition.base.min [ fhir:value "0"^^xsd:nonNegativeInteger ];
         fhir:ElementDefinition.base.max [ fhir:value "1" ]       ];
       fhir:ElementDefinition.type [
         fhir:index 0;
         fhir:ElementDefinition.type.code [ fhir:value "Coding" ]       ];
       fhir:ElementDefinition.mustSupport [ fhir:value "false"^^xsd:boolean ];
       fhir:ElementDefinition.isModifier [ fhir:value "false"^^xsd:boolean ];
       fhir:ElementDefinition.isSummary [ fhir:value "false"^^xsd:boolean ]     ], [
       fhir:index 3;
       fhir:Element.id [ fhir:value "oncology-BRCA2Variant-model.exceptionValue" ];
       fhir:ElementDefinition.path [ fhir:value "oncology-BRCA2Variant-model.exceptionValue" ];
       fhir:ElementDefinition.short [ fhir:value "Reason that a value associated with a test or other finding is missing." ];
       fhir:ElementDefinition.definition [ fhir:value "Reason that a value associated with a test or other finding is missing." ];
       fhir:ElementDefinition.min [ fhir:value "0"^^xsd:nonNegativeInteger ];
       fhir:ElementDefinition.max [ fhir:value "1" ];
       fhir:ElementDefinition.base [
         fhir:ElementDefinition.base.path [ fhir:value "oncology-BRCA2Variant-model.exceptionValue" ];
         fhir:ElementDefinition.base.min [ fhir:value "0"^^xsd:nonNegativeInteger ];
         fhir:ElementDefinition.base.max [ fhir:value "1" ]       ];
       fhir:ElementDefinition.type [
         fhir:index 0;
         fhir:ElementDefinition.type.code [ fhir:value "Coding" ]       ];
       fhir:ElementDefinition.mustSupport [ fhir:value "false"^^xsd:boolean ];
       fhir:ElementDefinition.isModifier [ fhir:value "false"^^xsd:boolean ];
       fhir:ElementDefinition.isSummary [ fhir:value "false"^^xsd:boolean ];
       fhir:ElementDefinition.binding [
         fhir:ElementDefinition.binding.strength [ fhir:value "extensible" ];
         fhir:ElementDefinition.binding.valueSetReference [
           fhir:link <http://hl7.org/fhir/ValueSet/data-absent-reason>;
           fhir:Reference.reference [ fhir:value "http://hl7.org/fhir/ValueSet/data-absent-reason" ]         ]       ]     ], [
       fhir:index 4;
       fhir:Element.id [ fhir:value "oncology-BRCA2Variant-model.interpretation" ];
       fhir:ElementDefinition.path [ fhir:value "oncology-BRCA2Variant-model.interpretation" ];
       fhir:ElementDefinition.code [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://ncimeta.nci.nih.gov" ];
         fhir:Coding.code [ fhir:value "C0420833" ]       ];
       fhir:ElementDefinition.short [ fhir:value "A clinical interpretation of a finding (applies to both assertions and observation)." ];
       fhir:ElementDefinition.definition [ fhir:value "A clinical interpretation of a finding (applies to both assertions and observation)." ];
       fhir:ElementDefinition.min [ fhir:value "0"^^xsd:nonNegativeInteger ];
       fhir:ElementDefinition.max [ fhir:value "1" ];
       fhir:ElementDefinition.base [
         fhir:ElementDefinition.base.path [ fhir:value "oncology-BRCA2Variant-model.interpretation" ];
         fhir:ElementDefinition.base.min [ fhir:value "0"^^xsd:nonNegativeInteger ];
         fhir:ElementDefinition.base.max [ fhir:value "1" ]       ];
       fhir:ElementDefinition.type [
         fhir:index 0;
         fhir:ElementDefinition.type.code [ fhir:value "Coding" ]       ];
       fhir:ElementDefinition.mustSupport [ fhir:value "false"^^xsd:boolean ];
       fhir:ElementDefinition.isModifier [ fhir:value "false"^^xsd:boolean ];
       fhir:ElementDefinition.isSummary [ fhir:value "false"^^xsd:boolean ];
       fhir:ElementDefinition.binding [
         fhir:ElementDefinition.binding.strength [ fhir:value "extensible" ];
         fhir:ElementDefinition.binding.valueSetReference [
           fhir:link <http://hl7.org/fhir/ValueSet/observation-interpretation>;
           fhir:Reference.reference [ fhir:value "http://hl7.org/fhir/ValueSet/observation-interpretation" ]         ]       ]     ], [
       fhir:index 5;
       fhir:Element.id [ fhir:value "oncology-BRCA2Variant-model.referenceRange" ];
       fhir:ElementDefinition.path [ fhir:value "oncology-BRCA2Variant-model.referenceRange" ];
       fhir:ElementDefinition.code [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://ncimeta.nci.nih.gov" ];
         fhir:Coding.code [ fhir:value "C0883335" ]       ];
       fhir:ElementDefinition.short [ fhir:value "The usual or acceptable range for a test result." ];
       fhir:ElementDefinition.definition [ fhir:value "The usual or acceptable range for a test result." ];
       fhir:ElementDefinition.min [ fhir:value "0"^^xsd:nonNegativeInteger ];
       fhir:ElementDefinition.max [ fhir:value "0" ];
       fhir:ElementDefinition.base [
         fhir:ElementDefinition.base.path [ fhir:value "oncology-BRCA2Variant-model.referenceRange" ];
         fhir:ElementDefinition.base.min [ fhir:value "0"^^xsd:nonNegativeInteger ];
         fhir:ElementDefinition.base.max [ fhir:value "0" ]       ];
       fhir:ElementDefinition.type [
         fhir:index 0;
         fhir:ElementDefinition.type.code [ fhir:value "http://hl7.org/fhir/us/breastcancer/StructureDefinition/cimi-topic-ReferenceRange-model" ]       ];
       fhir:ElementDefinition.mustSupport [ fhir:value "false"^^xsd:boolean ];
       fhir:ElementDefinition.isModifier [ fhir:value "false"^^xsd:boolean ];
       fhir:ElementDefinition.isSummary [ fhir:value "false"^^xsd:boolean ]     ]
  ];
  fhir:StructureDefinition.differential [
     fhir:StructureDefinition.differential.element [
       fhir:index 0;
       fhir:Element.id [ fhir:value "oncology-BRCA2Variant-model" ];
       fhir:ElementDefinition.path [ fhir:value "oncology-BRCA2Variant-model" ];
       fhir:ElementDefinition.definition [ fhir:value "Whether the patient has a mutation in the BRCA2 gene." ];
       fhir:ElementDefinition.min [ fhir:value "0"^^xsd:nonNegativeInteger ];
       fhir:ElementDefinition.max [ fhir:value "*" ];
       fhir:ElementDefinition.base [
         fhir:ElementDefinition.base.path [ fhir:value "oncology-BRCA2Variant-model" ];
         fhir:ElementDefinition.base.min [ fhir:value "0"^^xsd:nonNegativeInteger ];
         fhir:ElementDefinition.base.max [ fhir:value "*" ]       ];
       fhir:ElementDefinition.mustSupport [ fhir:value "false"^^xsd:boolean ];
       fhir:ElementDefinition.isModifier [ fhir:value "false"^^xsd:boolean ];
       fhir:ElementDefinition.isSummary [ fhir:value "false"^^xsd:boolean ]     ], [
       fhir:index 1;
       fhir:Element.id [ fhir:value "oncology-BRCA2Variant-model.value" ];
       fhir:ElementDefinition.path [ fhir:value "oncology-BRCA2Variant-model.value" ];
       fhir:ElementDefinition.short [ fhir:value "Code representing whether the patient has a mutation in the BRCA2 gene." ];
       fhir:ElementDefinition.definition [ fhir:value "Code representing whether the patient has a mutation in the BRCA2 gene." ];
       fhir:ElementDefinition.min [ fhir:value "1"^^xsd:nonNegativeInteger ];
       fhir:ElementDefinition.max [ fhir:value "1" ];
       fhir:ElementDefinition.base [
         fhir:ElementDefinition.base.path [ fhir:value "oncology-BRCA2Variant-model.value" ];
         fhir:ElementDefinition.base.min [ fhir:value "1"^^xsd:nonNegativeInteger ];
         fhir:ElementDefinition.base.max [ fhir:value "1" ]       ];
       fhir:ElementDefinition.type [
         fhir:index 0;
         fhir:ElementDefinition.type.code [ fhir:value "Coding" ]       ];
       fhir:ElementDefinition.mustSupport [ fhir:value "false"^^xsd:boolean ];
       fhir:ElementDefinition.isModifier [ fhir:value "false"^^xsd:boolean ];
       fhir:ElementDefinition.isSummary [ fhir:value "false"^^xsd:boolean ];
       fhir:ElementDefinition.binding [
         fhir:ElementDefinition.binding.strength [ fhir:value "required" ];
         fhir:ElementDefinition.binding.valueSetReference [
           fhir:link <http://hl7.org/fhir/us/breastcancer/ValueSet/shr-core-PositiveNegativeVS>;
           fhir:Reference.reference [ fhir:value "http://hl7.org/fhir/us/breastcancer/ValueSet/shr-core-PositiveNegativeVS" ]         ]       ]     ], [
       fhir:index 2;
       fhir:Element.id [ fhir:value "oncology-BRCA2Variant-model.topicCode" ];
       fhir:ElementDefinition.path [ fhir:value "oncology-BRCA2Variant-model.topicCode" ];
       fhir:ElementDefinition.short [ fhir:value "The concept representing the finding or action that is the topic of the statement." ];
       fhir:ElementDefinition.definition [ fhir:value "The concept representing the finding or action that is the topic of the statement.\n\nFor action topics, the TopicCode represents the action being described. For findings, the TopicCode represents the 'question' or property being investigated. For evaluation result findings, the TopicCode contains a concept for an observable entity, such as systolic blood pressure. For assertion findings, the TopicCode contains a code representing the condition, allergy, or other item being asserted. In all cases, the TopicCode describes the topic independent of the context of the action or the finding." ];
       fhir:ElementDefinition.min [ fhir:value "0"^^xsd:nonNegativeInteger ];
       fhir:ElementDefinition.max [ fhir:value "1" ];
       fhir:ElementDefinition.base [
         fhir:ElementDefinition.base.path [ fhir:value "oncology-BRCA2Variant-model.topicCode" ];
         fhir:ElementDefinition.base.min [ fhir:value "0"^^xsd:nonNegativeInteger ];
         fhir:ElementDefinition.base.max [ fhir:value "1" ]       ];
       fhir:ElementDefinition.type [
         fhir:index 0;
         fhir:ElementDefinition.type.code [ fhir:value "Coding" ]       ];
       fhir:ElementDefinition.mustSupport [ fhir:value "false"^^xsd:boolean ];
       fhir:ElementDefinition.isModifier [ fhir:value "false"^^xsd:boolean ];
       fhir:ElementDefinition.isSummary [ fhir:value "false"^^xsd:boolean ]     ], [
       fhir:index 3;
       fhir:Element.id [ fhir:value "oncology-BRCA2Variant-model.exceptionValue" ];
       fhir:ElementDefinition.path [ fhir:value "oncology-BRCA2Variant-model.exceptionValue" ];
       fhir:ElementDefinition.short [ fhir:value "Reason that a value associated with a test or other finding is missing." ];
       fhir:ElementDefinition.definition [ fhir:value "Reason that a value associated with a test or other finding is missing." ];
       fhir:ElementDefinition.min [ fhir:value "0"^^xsd:nonNegativeInteger ];
       fhir:ElementDefinition.max [ fhir:value "1" ];
       fhir:ElementDefinition.base [
         fhir:ElementDefinition.base.path [ fhir:value "oncology-BRCA2Variant-model.exceptionValue" ];
         fhir:ElementDefinition.base.min [ fhir:value "0"^^xsd:nonNegativeInteger ];
         fhir:ElementDefinition.base.max [ fhir:value "1" ]       ];
       fhir:ElementDefinition.type [
         fhir:index 0;
         fhir:ElementDefinition.type.code [ fhir:value "Coding" ]       ];
       fhir:ElementDefinition.mustSupport [ fhir:value "false"^^xsd:boolean ];
       fhir:ElementDefinition.isModifier [ fhir:value "false"^^xsd:boolean ];
       fhir:ElementDefinition.isSummary [ fhir:value "false"^^xsd:boolean ];
       fhir:ElementDefinition.binding [
         fhir:ElementDefinition.binding.strength [ fhir:value "extensible" ];
         fhir:ElementDefinition.binding.valueSetReference [
           fhir:link <http://hl7.org/fhir/ValueSet/data-absent-reason>;
           fhir:Reference.reference [ fhir:value "http://hl7.org/fhir/ValueSet/data-absent-reason" ]         ]       ]     ], [
       fhir:index 4;
       fhir:Element.id [ fhir:value "oncology-BRCA2Variant-model.interpretation" ];
       fhir:ElementDefinition.path [ fhir:value "oncology-BRCA2Variant-model.interpretation" ];
       fhir:ElementDefinition.code [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://ncimeta.nci.nih.gov" ];
         fhir:Coding.code [ fhir:value "C0420833" ]       ];
       fhir:ElementDefinition.short [ fhir:value "A clinical interpretation of a finding (applies to both assertions and observation)." ];
       fhir:ElementDefinition.definition [ fhir:value "A clinical interpretation of a finding (applies to both assertions and observation)." ];
       fhir:ElementDefinition.min [ fhir:value "0"^^xsd:nonNegativeInteger ];
       fhir:ElementDefinition.max [ fhir:value "1" ];
       fhir:ElementDefinition.base [
         fhir:ElementDefinition.base.path [ fhir:value "oncology-BRCA2Variant-model.interpretation" ];
         fhir:ElementDefinition.base.min [ fhir:value "0"^^xsd:nonNegativeInteger ];
         fhir:ElementDefinition.base.max [ fhir:value "1" ]       ];
       fhir:ElementDefinition.type [
         fhir:index 0;
         fhir:ElementDefinition.type.code [ fhir:value "Coding" ]       ];
       fhir:ElementDefinition.mustSupport [ fhir:value "false"^^xsd:boolean ];
       fhir:ElementDefinition.isModifier [ fhir:value "false"^^xsd:boolean ];
       fhir:ElementDefinition.isSummary [ fhir:value "false"^^xsd:boolean ];
       fhir:ElementDefinition.binding [
         fhir:ElementDefinition.binding.strength [ fhir:value "extensible" ];
         fhir:ElementDefinition.binding.valueSetReference [
           fhir:link <http://hl7.org/fhir/ValueSet/observation-interpretation>;
           fhir:Reference.reference [ fhir:value "http://hl7.org/fhir/ValueSet/observation-interpretation" ]         ]       ]     ], [
       fhir:index 5;
       fhir:Element.id [ fhir:value "oncology-BRCA2Variant-model.referenceRange" ];
       fhir:ElementDefinition.path [ fhir:value "oncology-BRCA2Variant-model.referenceRange" ];
       fhir:ElementDefinition.code [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://ncimeta.nci.nih.gov" ];
         fhir:Coding.code [ fhir:value "C0883335" ]       ];
       fhir:ElementDefinition.short [ fhir:value "The usual or acceptable range for a test result." ];
       fhir:ElementDefinition.definition [ fhir:value "The usual or acceptable range for a test result." ];
       fhir:ElementDefinition.min [ fhir:value "0"^^xsd:nonNegativeInteger ];
       fhir:ElementDefinition.max [ fhir:value "0" ];
       fhir:ElementDefinition.base [
         fhir:ElementDefinition.base.path [ fhir:value "oncology-BRCA2Variant-model.referenceRange" ];
         fhir:ElementDefinition.base.min [ fhir:value "0"^^xsd:nonNegativeInteger ];
         fhir:ElementDefinition.base.max [ fhir:value "0" ]       ];
       fhir:ElementDefinition.type [
         fhir:index 0;
         fhir:ElementDefinition.type.code [ fhir:value "http://hl7.org/fhir/us/breastcancer/StructureDefinition/cimi-topic-ReferenceRange-model" ]       ];
       fhir:ElementDefinition.mustSupport [ fhir:value "false"^^xsd:boolean ];
       fhir:ElementDefinition.isModifier [ fhir:value "false"^^xsd:boolean ];
       fhir:ElementDefinition.isSummary [ fhir:value "false"^^xsd:boolean ]     ]
  ].

<http://hl7.org/fhir/us/breastcancer/ValueSet/shr-core-PositiveNegativeVS> a fhir:us.

<http://hl7.org/fhir/ValueSet/data-absent-reason> a fhir:ValueSet.

<http://hl7.org/fhir/ValueSet/observation-interpretation> a fhir:ValueSet.

# - ontology header ------------------------------------------------------------

 a owl:Ontology;
  owl:imports fhir:fhir.ttl.