{ "resourceType": "StructureDefinition", "id": "genomics-report", "meta": { "lastUpdated": "2019-12-20T21:24:55.845+00:00" }, "text": { "status": "generated", "div": "
NameFlagsCard.TypeDescription & Constraints\"doco\"
\".\"\".\"DiagnosticReport0..*Genomics Report
\".\"\".\"\".\"RelatedArtifact0..*RelatedArtifactCitations and supporting info
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/RelatedArtifact
\".\"\".\"\".\"RecommendedAction0..*Reference(Task | ServiceRequest | MedicationRequest | RequestGroup | CarePlan | DeviceRequest | NutritionOrder | SupplyRequest)Tasks relevant to report
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/RecommendedAction
\".\"\".\"\".\"\".\"value[x]:valueReference1..1Reference(Task)Recommended action tasks relevant to report
\".\"\".\"\".\"SupportingInfo0..*Reference()Other resources that support report
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/SupportingInfo
\".\"\".\"\".\"\".\"value[x]:valueReference1..1Reference(FamilyMemberHistory | RiskAssessment | Observation | DocumentReference)Family history with relevance to report
\".\"\".\"\".\"diagnosticReport-risk0..*Reference(RiskAssessment)Risk
URL: http://hl7.org/fhir/StructureDefinition/diagnosticReport-risk
\".\"\".\"\".\"\".\"valueReference1..1Reference(RiskAssessment)
\".\"\".\"\".\"identifier0..1Identifier
\".\"\".\"\".\"basedOn0..*Reference(ServiceRequest)
\".\"\".\"\".\"status1..1code
\".\"\".\"\".\"category0..*CodeableConceptRequired Pattern: At least the following
\".\"\".\"\".\"\".\"coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
\".\"\".\"\".\"\".\"\".\"system1..1uriIdentity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/v2-0074
\".\"\".\"\".\"\".\"\".\"code1..1codeSymbol in syntax defined by the system
Fixed Value: GE
\".\"\".\"\".\"code1..1CodeableConcept
\".\"\".\"\".\"\".\"coding1..*(Slice Definition)Slice: Unordered, Open by value:system, value:code
\".\"\".\"\".\"\".\"\".\"coding:code1..1Coding
\".\"\".\"\".\"\".\"\".\"\".\"system1..1uriFixed Value: http://loinc.org
\".\"\".\"\".\"\".\"\".\"\".\"code1..1codeMaster HL7 genetic variant reporting panel
Fixed Value: 81247-9
\".\"\".\"\".\"subject0..1Reference(Patient | Group | Location)
\".\"\".\"\".\"effectiveDateTime0..1dateTime
\".\"\".\"\".\"issued0..1instant
\".\"\".\"\".\"performer0..1Reference(Practitioner | PractitionerRole | Organization | CareTeam)
\".\"\".\"\".\"specimen0..*Reference(Specimen)
\".\"\".\"\".\"result1..*(Slice Definition)Slice: Unordered, Open by pattern:resolve().code
\".\"\".\"\".\"\".\"result:gen-grouper0..*Reference(Grouper)Grouper
\".\"\".\"\".\"\".\"result:overall0..1Reference(Overall Interpretation)Assessment of overall results
\".\"\".\"\".\"\".\"result:inh-dis-path0..*Reference(Inherited Disease Pathogenicity)Inherited Disease Pathology
\".\"\".\"\".\"\".\"result:som-diagnostic0..*Reference(Somatic Diagnostic)Somatic Diagnostic
\".\"\".\"\".\"\".\"result:som-prognostic0..*Reference(Somatic Prognostic)Somatic Prognostic
\".\"\".\"\".\"\".\"result:som-predictive0..*Reference(Somatic Predictive)Somatic Predictive
\".\"\".\"\".\"\".\"result:med-metabolism0..*Reference(Medication Metabolism)Metabolism Implication
\".\"\".\"\".\"\".\"result:med-efficacy0..*Reference(Medication Efficacy)Efficacy Implication
\".\"\".\"\".\"\".\"result:med-transporter0..*Reference(Medication Transporter)
\".\"\".\"\".\"\".\"result:med-high-risk0..*Reference(Medication High Risk)High-Risk Medication Implication
\".\"\".\"\".\"\".\"result:genotype0..*Reference(Genotype)Genotype
\".\"\".\"\".\"\".\"result:haplotype0..*Reference(Haplotype)Haplotype
\".\"\".\"\".\"\".\"result:variant0..*Reference(Variant)Variant
\".\"\".\"\".\"\".\"result:sequence-phase-relation0..*Reference(Sequence Phase Reltionship)
\".\"\".\"\".\"\".\"result:region-studied0..*Reference(Region Studied)Region Studied
\".\"\".\"\".\"imagingStudy0..0
\".\"\".\"\".\"media0..1BackboneElement
\".\"\".\"\".\"presentedForm0..*Attachment

\"doco\" Documentation for this format
" }, "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-report", "version": "1.0.0", "name": "GenomicsReport", "title": "Genomics Report", "status": "draft", "experimental": false, "date": "2017-05-20T00:00:00+00:00", "publisher": "HL7 Clinical Genomics WG", "description": "Genomics profile of DiagnosticReport", "fhirVersion": "4.0.1", "mapping": [ { "identity": "v2-cg-results", "uri": "http://unknown.org/V2-CG-Results", "name": "V2-CG-Results" }, { "identity": "workflow", "uri": "http://hl7.org/fhir/workflow", "name": "Workflow Pattern" }, { "identity": "v2", "uri": "http://hl7.org/v2", "name": "HL7 v2 Mapping" }, { "identity": "rim", "uri": "http://hl7.org/v3", "name": "RIM Mapping" }, { "identity": "w5", "uri": "http://hl7.org/fhir/fivews", "name": "FiveWs Pattern Mapping" } ], "kind": "resource", "abstract": false, "type": "DiagnosticReport", "baseDefinition": "http://hl7.org/fhir/StructureDefinition/DiagnosticReport", "derivation": "constraint", "snapshot": {}, "differential": { "element": [ { "id": "DiagnosticReport", "path": "DiagnosticReport", "short": "Genomics Report", "definition": "Defines the overall genetic report.", "mustSupport": false }, { "id": "DiagnosticReport.extension:RelatedArtifact", "path": "DiagnosticReport.extension", "sliceName": "RelatedArtifact", "short": "Citations and supporting info", "definition": "References to literature that supports the assertions made within the report, describes the methodology used in testing or other information relevant to the interpretation of the report.", "min": 0, "max": "*", "type": [ { "code": "Extension", "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/RelatedArtifact" ] } ], "mustSupport": false }, { "id": "DiagnosticReport.extension:RecommendedAction", "path": "DiagnosticReport.extension", "sliceName": "RecommendedAction", "short": "Tasks relevant to report", "min": 0, "max": "*", "type": [ { "code": "Extension", "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/RecommendedAction" ] } ], "mustSupport": false, "mapping": [ { "identity": "v2-cg-results", "map": "N/A (from other CG FHIR work)" } ] }, { "id": "DiagnosticReport.extension:RecommendedAction.value[x]:valueReference", "path": "DiagnosticReport.extension.value[x]", "sliceName": "valueReference", "short": "Recommended action tasks relevant to report", "min": 1, "max": "1", "type": [ { "code": "Reference", "targetProfile": [ "http://hl7.org/fhir/StructureDefinition/Task" ] } ], "mustSupport": false, "mapping": [ { "identity": "v2-cg-results", "map": "N/A (from other CG FHIR work)" } ] }, { "id": "DiagnosticReport.extension:SupportingInfo", "path": "DiagnosticReport.extension", "sliceName": "SupportingInfo", "short": "Other resources that support report", "min": 0, "max": "*", "type": [ { "code": "Extension", "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/SupportingInfo" ] } ], "mustSupport": false, "mapping": [ { "identity": "v2-cg-results", "map": "N/A (from other CG FHIR work)" } ] }, { "id": "DiagnosticReport.extension:SupportingInfo.value[x]:valueReference", "path": "DiagnosticReport.extension.value[x]", "sliceName": "valueReference", "short": "Family history with relevance to report", "min": 1, "max": "1", "type": [ { "code": "Reference", "targetProfile": [ "http://hl7.org/fhir/StructureDefinition/FamilyMemberHistory", "http://hl7.org/fhir/StructureDefinition/RiskAssessment", "http://hl7.org/fhir/StructureDefinition/Observation", "http://hl7.org/fhir/StructureDefinition/DocumentReference" ] } ], "mustSupport": false, "mapping": [ { "identity": "v2-cg-results", "map": "N/A (from other CG FHIR work)" } ] }, { "id": "DiagnosticReport.extension:risk", "path": "DiagnosticReport.extension", "sliceName": "risk", "min": 0, "max": "*", "type": [ { "code": "Extension", "profile": [ "http://hl7.org/fhir/StructureDefinition/diagnosticReport-risk" ] } ], "mustSupport": false }, { "id": "DiagnosticReport.extension:risk.valueReference", "path": "DiagnosticReport.extension.valueReference", "min": 1, "max": "1", "type": [ { "code": "Reference", "targetProfile": [ "http://hl7.org/fhir/StructureDefinition/RiskAssessment" ] } ], "mustSupport": false }, { "id": "DiagnosticReport.identifier", "path": "DiagnosticReport.identifier", "min": 0, "max": "1", "type": [ { "code": "Identifier" } ], "mustSupport": false }, { "id": "DiagnosticReport.basedOn", "path": "DiagnosticReport.basedOn", "min": 0, "max": "*", "type": [ { "code": "Reference", "targetProfile": [ "http://hl7.org/fhir/StructureDefinition/ServiceRequest" ] } ], "mustSupport": false }, { "id": "DiagnosticReport.status", "path": "DiagnosticReport.status", "mustSupport": false }, { "id": "DiagnosticReport.category", "path": "DiagnosticReport.category", "type": [ { "code": "CodeableConcept" } ], "patternCodeableConcept": { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/v2-0074", "code": "GE" } ] }, "mustSupport": false }, { "id": "DiagnosticReport.code", "path": "DiagnosticReport.code", "min": 1, "max": "1", "mustSupport": false }, { "id": "DiagnosticReport.code.coding", "path": "DiagnosticReport.code.coding", "slicing": { "discriminator": [ { "type": "value", "path": "system" }, { "type": "value", "path": "code" } ], "rules": "open" }, "min": 1, "max": "*", "mustSupport": false }, { "id": "DiagnosticReport.code.coding:code", "path": "DiagnosticReport.code.coding", "sliceName": "code", "min": 1, "max": "1", "mustSupport": false }, { "id": "DiagnosticReport.code.coding:code.system", "path": "DiagnosticReport.code.coding.system", "min": 1, "max": "1", "type": [ { "code": "uri" } ], "fixedUri": "http://loinc.org", "mustSupport": false }, { "id": "DiagnosticReport.code.coding:code.code", "path": "DiagnosticReport.code.coding.code", "short": "Master HL7 genetic variant reporting panel", "min": 1, "max": "1", "type": [ { "code": "code" } ], "fixedCode": "81247-9", "mustSupport": false }, { "id": "DiagnosticReport.subject", "path": "DiagnosticReport.subject", "min": 0, "max": "1", "type": [ { "code": "Reference", "targetProfile": [ "http://hl7.org/fhir/StructureDefinition/Patient", "http://hl7.org/fhir/StructureDefinition/Group", "http://hl7.org/fhir/StructureDefinition/Location" ] } ], "mustSupport": false }, { "id": "DiagnosticReport.effectiveDateTime", "path": "DiagnosticReport.effectiveDateTime", "min": 0, "max": "1", "mustSupport": false }, { "id": "DiagnosticReport.issued", "path": "DiagnosticReport.issued", "min": 0, "max": "1", "mustSupport": false }, { "id": "DiagnosticReport.performer", "path": "DiagnosticReport.performer", "min": 0, "max": "1", "mustSupport": false }, { "id": "DiagnosticReport.specimen", "path": "DiagnosticReport.specimen", "min": 0, "max": "*", "type": [ { "code": "Reference", "targetProfile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/specimen" ] } ], "mustSupport": false }, { "id": "DiagnosticReport.result", "path": "DiagnosticReport.result", "slicing": { "discriminator": [ { "type": "pattern", "path": "resolve().code" } ], "rules": "open" }, "min": 1, "max": "*", "mustSupport": false }, { "id": "DiagnosticReport.result:gen-grouper", "path": "DiagnosticReport.result", "sliceName": "gen-grouper", "short": "Grouper", "min": 0, "max": "*", "type": [ { "code": "Reference", "targetProfile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/grouper" ] } ], "mustSupport": false, "mapping": [ { "identity": "v2-cg-results", "map": "TBD" } ] }, { "id": "DiagnosticReport.result:overall", "path": "DiagnosticReport.result", "sliceName": "overall", "short": "Assessment of overall results", "min": 0, "max": "1", "type": [ { "code": "Reference", "targetProfile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/overall-interpretation" ] } ], "mustSupport": false, "mapping": [ { "identity": "v2-cg-results", "map": "A.8" } ] }, { "id": "DiagnosticReport.result:inh-dis-path", "path": "DiagnosticReport.result", "sliceName": "inh-dis-path", "short": "Inherited Disease Pathology", "min": 0, "max": "*", "type": [ { "code": "Reference", "targetProfile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/inherited-disease-pathogenicity" ] } ], "mustSupport": false, "mapping": [ { "identity": "v2-cg-results", "map": "TBD" } ] }, { "id": "DiagnosticReport.result:som-diagnostic", "path": "DiagnosticReport.result", "sliceName": "som-diagnostic", "short": "Somatic Diagnostic", "min": 0, "max": "*", "type": [ { "code": "Reference", "targetProfile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/somatic-diagnostic" ] } ], "mustSupport": false, "mapping": [ { "identity": "v2-cg-results", "map": "TBD" } ] }, { "id": "DiagnosticReport.result:som-prognostic", "path": "DiagnosticReport.result", "sliceName": "som-prognostic", "short": "Somatic Prognostic", "min": 0, "max": "*", "type": [ { "code": "Reference", "targetProfile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/somatic-prognostic" ] } ], "mustSupport": false, "mapping": [ { "identity": "v2-cg-results", "map": "TBD" } ] }, { "id": "DiagnosticReport.result:som-predictive", "path": "DiagnosticReport.result", "sliceName": "som-predictive", "short": "Somatic Predictive", "min": 0, "max": "*", "type": [ { "code": "Reference", "targetProfile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/somatic-predictive" ] } ], "mustSupport": false, "mapping": [ { "identity": "v2-cg-results", "map": "TBD" } ] }, { "id": "DiagnosticReport.result:med-metabolism", "path": "DiagnosticReport.result", "sliceName": "med-metabolism", "short": "Metabolism Implication", "min": 0, "max": "*", "type": [ { "code": "Reference", "targetProfile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/medication-metabolism" ] } ], "mustSupport": false, "mapping": [ { "identity": "v2-cg-results", "map": "TDB" } ] }, { "id": "DiagnosticReport.result:med-efficacy", "path": "DiagnosticReport.result", "sliceName": "med-efficacy", "short": "Efficacy Implication", "min": 0, "max": "*", "type": [ { "code": "Reference", "targetProfile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/medication-efficacy" ] } ], "mustSupport": false, "mapping": [ { "identity": "v2-cg-results", "map": "TDB" } ] }, { "id": "DiagnosticReport.result:med-transporter", "path": "DiagnosticReport.result", "sliceName": "med-transporter", "min": 0, "max": "*", "type": [ { "code": "Reference", "targetProfile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/medication-transporter" ] } ], "mustSupport": false }, { "id": "DiagnosticReport.result:med-high-risk", "path": "DiagnosticReport.result", "sliceName": "med-high-risk", "short": "High-Risk Medication Implication", "min": 0, "max": "*", "type": [ { "code": "Reference", "targetProfile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/medication-high-risk" ] } ], "mustSupport": false, "mapping": [ { "identity": "v2-cg-results", "map": "TDB" } ] }, { "id": "DiagnosticReport.result:genotype", "path": "DiagnosticReport.result", "sliceName": "genotype", "short": "Genotype", "min": 0, "max": "*", "type": [ { "code": "Reference", "targetProfile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype" ] } ], "mustSupport": false, "mapping": [ { "identity": "v2-cg-results", "map": "TBD" } ] }, { "id": "DiagnosticReport.result:haplotype", "path": "DiagnosticReport.result", "sliceName": "haplotype", "short": "Haplotype", "min": 0, "max": "*", "type": [ { "code": "Reference", "targetProfile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype" ] } ], "mustSupport": false, "mapping": [ { "identity": "v2-cg-results", "map": "TBD" } ] }, { "id": "DiagnosticReport.result:variant", "path": "DiagnosticReport.result", "sliceName": "variant", "short": "Variant", "min": 0, "max": "*", "type": [ { "code": "Reference", "targetProfile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" ] } ], "mustSupport": false, "mapping": [ { "identity": "v2-cg-results", "map": "TBD" } ] }, { "id": "DiagnosticReport.result:sequence-phase-relation", "path": "DiagnosticReport.result", "sliceName": "sequence-phase-relation", "min": 0, "max": "*", "type": [ { "code": "Reference", "targetProfile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/sequence-phase-relationship" ] } ], "mustSupport": false }, { "id": "DiagnosticReport.result:region-studied", "path": "DiagnosticReport.result", "sliceName": "region-studied", "short": "Region Studied", "min": 0, "max": "*", "type": [ { "code": "Reference", "targetProfile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/region-studied" ] } ], "mustSupport": false, "mapping": [ { "identity": "v2-cg-results", "map": "TBD" } ] }, { "id": "DiagnosticReport.imagingStudy", "path": "DiagnosticReport.imagingStudy", "min": 0, "max": "0", "type": [ { "code": "Reference", "targetProfile": [ "http://hl7.org/fhir/StructureDefinition/ImagingStudy" ] } ], "mustSupport": false }, { "id": "DiagnosticReport.media", "path": "DiagnosticReport.media", "comment": "This might be used to convey cytogenetic-related images.", "min": 0, "max": "1", "mustSupport": false }, { "id": "DiagnosticReport.presentedForm", "path": "DiagnosticReport.presentedForm", "mustSupport": false, "mapping": [ { "identity": "v2-cg-results", "map": "A.10" } ] } ] } }