This page is part of the Genetic Reporting Implementation Guide (v0.3.0: STU 1 Ballot 2) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

StructureDefinition: Genomics Report

The official URL for this profile is: 

http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnosticreport

Formal Views of Profile Content

Description of Profiles, Differentials, Snapshots and how the different presentations work.

This structure is derived from DiagnosticReport

Summary

Mandatory: 6 elements (3 nested mandatory elements)
Must-Support: 39 elements
Fixed Value: 2 elements
Prohibited: 1 element

Structures

This structure refers to these other structures:

Extensions

This structure refers to these extensions:

Slices

This structure defines the following Slices:

  • The element DiagnosticReport.code.coding is sliced based on the values of value:system, value:code
  • The element DiagnosticReport.result is sliced based on the value of pattern:resolve().code

This structure is derived from DiagnosticReport

NameFlagsCard.TypeDescription & Constraintsdoco
.. DiagnosticReport 0..*Genomics Report
... dr-relatedArtifact S0..1RelatedArtifactCitations and supporting info
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/dr-relatedArtifact
... dr-recommendedAction S0..*Reference(Task | ServiceRequest | MedicationRequest | RequestGroup | CarePlan | DeviceRequest | NutritionOrder | SupplyRequest)Tasks relevant to report
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/dr-recommendedAction
.... valueReference S1..1Reference(Task)Recommended action tasks relevant to report
... dr-supportingInfo S0..*Reference()Other resources that support report
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/dr-supportingInfo
.... valueReference S1..1Reference(FamilyMemberHistory | RiskAssessment | Observation | DocumentReference)Family history with relevance to report
... diagnosticReport-risk S0..*Reference(RiskAssessment)Risk
URL: http://hl7.org/fhir/StructureDefinition/diagnosticReport-risk
.... valueReference S1..1Reference(RiskAssessment)
... identifier S0..1Identifier
... basedOn S0..*Reference(ServiceRequest)
... status S1..1code
... category S0..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://terminology.hl7.org/CodeSystem/v2-0074","code":"GE"}]}
... code S1..1CodeableConcept
.... coding SCodingSlice: Unordered, Open by value:system, value:code
.... coding S1..1Coding
..... system S1..1uriFixed Value: http://loinc.org
..... code S1..1codeMaster HL7 genetic variant reporting panel
Fixed Value: 81247-9
... subject S0..1Reference(Patient | Group | Location)
... effectiveDateTime S0..1dateTime, Period
... issued S0..1instant
... performer S0..1Reference(Organization)
... specimen S0..*Reference(Specimen)
... result SReference(Observation)Slice: Unordered, Open by pattern:resolve().code
... result S0..*Reference(Genomics Panel)Genetic panel
... result S0..1Reference(Genomic analysis overall interpretation)Assessment of overall results
... result S0..1Reference(Deletion-duplication overall interpretation)Assessment of deletion/duplication results
... result S0..*Reference(Inherited Disease Pathogenicity)Inherited Disease Pathology
... result S0..*Reference(Somatic Diagnostic Impact)Somatic Diagnostic
... result S0..*Reference(Somatic Prognostic Impact)Somatic Prognostic
... result S0..*Reference(Somatic Predictive Impact)Somatic Predictive
... result S0..*Reference(Medication Metabolism Impact)Metabolism Impact
... result S0..*Reference(Medication Efficacy Impact)Efficacy Impact
... result S0..*Reference(High Risk Allele)High-Risk Medication Impact
... result S0..*Reference(Cytogenetic Nomenclature)Cytogenetic Nomenclature
... result S0..*Reference(Genotype)Genotype
... result S0..*Reference(Haplotype)Haplotype
... result S0..*Reference(Complex variation)Complex Variant
... result S0..*Reference(Described Variant)Described Variant
... result S0..*Reference(Region Studied)Region Studied
... imagingStudy 0..0
... media 0..1BackboneElement
... presentedForm S0..*Attachment

doco Documentation for this format
NameFlagsCard.TypeDescription & Constraintsdoco
.. DiagnosticReport I0..*Genomics Report
... id Σ0..1idLogical id of this artifact
... meta Σ0..1MetaMetadata about the resource
... implicitRules ?!Σ0..1uriA set of rules under which this content was created
... language 0..1codeLanguage of the resource content
Binding: CommonLanguages (preferred)
... text 0..1NarrativeText summary of the resource, for human interpretation
... contained 0..*ResourceContained, inline Resources
... extension 0..*ExtensionExtension
Slice: Unordered, Open by value:url
... dr-relatedArtifact SI0..1RelatedArtifactCitations and supporting info
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/dr-relatedArtifact
... dr-recommendedAction SI0..*Reference(Task | ServiceRequest | MedicationRequest | RequestGroup | CarePlan | DeviceRequest | NutritionOrder | SupplyRequest)Tasks relevant to report
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/dr-recommendedAction
.... id 0..1stringUnique id for inter-element referencing
.... extension 0..*ExtensionAdditional content defined by implementations
Slice: Unordered, Open by value:url
.... url 1..1uri"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/dr-recommendedAction"
.... valueReference S1..1Reference(Task)Recommended action tasks relevant to report
... dr-supportingInfo SI0..*Reference()Other resources that support report
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/dr-supportingInfo
.... id 0..1stringUnique id for inter-element referencing
.... extension 0..*ExtensionAdditional content defined by implementations
Slice: Unordered, Open by value:url
.... url 1..1uri"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/dr-supportingInfo"
.... valueReference S1..1Reference(FamilyMemberHistory | RiskAssessment | Observation | DocumentReference)Family history with relevance to report
... diagnosticReport-risk SI0..*Reference(RiskAssessment)Risk
URL: http://hl7.org/fhir/StructureDefinition/diagnosticReport-risk
.... id 0..1stringUnique id for inter-element referencing
.... extension 0..0
.... url 1..1uri"http://hl7.org/fhir/StructureDefinition/diagnosticReport-risk"
.... valueReference S1..1Reference(RiskAssessment)Value of extension
... modifierExtension ?!0..*ExtensionExtensions that cannot be ignored
... identifier SΣ0..1IdentifierBusiness identifier for report
... basedOn S0..*Reference(ServiceRequest)What was requested
... status ?!SΣ1..1coderegistered | partial | preliminary | final +
Binding: DiagnosticReportStatus (required)
... category SΣ0..1CodeableConceptService category
Binding: DiagnosticServiceSectionCodes (example)

Required Pattern: {"coding":[{"system":"http://terminology.hl7.org/CodeSystem/v2-0074","code":"GE"}]}
... code SΣ1..1CodeableConceptName/Code for this diagnostic report
Binding: LOINCDiagnosticReportCodes (preferred)
.... id 0..1stringUnique id for inter-element referencing
.... extension 0..*ExtensionAdditional content defined by implementations
Slice: Unordered, Open by value:url
.... coding SΣCodingCode defined by a terminology system
Slice: Unordered, Open by value:system, value:code
.... coding SΣ1..1CodingCode defined by a terminology system
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
Slice: Unordered, Open by value:url
..... system SΣ1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
..... version Σ0..1stringVersion of the system - if relevant
..... code SΣ1..1codeMaster HL7 genetic variant reporting panel
Fixed Value: 81247-9
..... display Σ0..1stringRepresentation defined by the system
..... userSelected Σ0..1booleanIf this coding was chosen directly by the user
.... text Σ0..1stringPlain text representation of the concept
... subject SΣ0..1Reference(Patient | Group | Location)The subject of the report - usually, but not always, the patient
... encounter Σ0..1Reference(Encounter)Health care event when test ordered
... effective[x] SΣ0..1dateTime, PeriodClinically relevant time/time-period for report
... issued SΣ0..1instantDateTime this version was made
... performer SΣ0..1Reference(Organization)Responsible Diagnostic Service
... resultsInterpreter Σ0..*Reference(Practitioner | PractitionerRole | Organization | CareTeam)Primary result interpreter
... specimen S0..*Reference(Specimen)Specimens this report is based on
... result SReference(Observation)Observations
Slice: Unordered, Open by pattern:resolve().code
... result S0..*Reference(Genomics Panel)Genetic panel
... result S0..1Reference(Genomic analysis overall interpretation)Assessment of overall results
... result S0..1Reference(Deletion-duplication overall interpretation)Assessment of deletion/duplication results
... result S0..*Reference(Inherited Disease Pathogenicity)Inherited Disease Pathology
... result S0..*Reference(Somatic Diagnostic Impact)Somatic Diagnostic
... result S0..*Reference(Somatic Prognostic Impact)Somatic Prognostic
... result S0..*Reference(Somatic Predictive Impact)Somatic Predictive
... result S0..*Reference(Medication Metabolism Impact)Metabolism Impact
... result S0..*Reference(Medication Efficacy Impact)Efficacy Impact
... result S0..*Reference(High Risk Allele)High-Risk Medication Impact
... result S0..*Reference(Cytogenetic Nomenclature)Cytogenetic Nomenclature
... result S0..*Reference(Genotype)Genotype
... result S0..*Reference(Haplotype)Haplotype
... result S0..*Reference(Complex variation)Complex Variant
... result S0..*Reference(Described Variant)Described Variant
... result S0..*Reference(Region Studied)Region Studied
... media ΣI0..1BackboneElementKey images associated with this report
.... id 0..1stringUnique id for inter-element referencing
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
.... comment 0..1stringComment about the image (e.g. explanation)
.... link Σ1..1Reference(Media)Reference to the image source
... conclusion 0..1stringClinical conclusion (interpretation) of test results
... conclusionCode 0..*CodeableConceptCodes for the clinical conclusion of test results
Binding: SNOMEDCTClinicalFindings (example)
... presentedForm S0..*AttachmentEntire report as issued

doco Documentation for this format

This structure is derived from DiagnosticReport

Summary

Mandatory: 6 elements (3 nested mandatory elements)
Must-Support: 39 elements
Fixed Value: 2 elements
Prohibited: 1 element

Structures

This structure refers to these other structures:

Extensions

This structure refers to these extensions:

Slices

This structure defines the following Slices:

  • The element DiagnosticReport.code.coding is sliced based on the values of value:system, value:code
  • The element DiagnosticReport.result is sliced based on the value of pattern:resolve().code

Differential View

This structure is derived from DiagnosticReport

NameFlagsCard.TypeDescription & Constraintsdoco
.. DiagnosticReport 0..*Genomics Report
... dr-relatedArtifact S0..1RelatedArtifactCitations and supporting info
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/dr-relatedArtifact
... dr-recommendedAction S0..*Reference(Task | ServiceRequest | MedicationRequest | RequestGroup | CarePlan | DeviceRequest | NutritionOrder | SupplyRequest)Tasks relevant to report
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/dr-recommendedAction
.... valueReference S1..1Reference(Task)Recommended action tasks relevant to report
... dr-supportingInfo S0..*Reference()Other resources that support report
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/dr-supportingInfo
.... valueReference S1..1Reference(FamilyMemberHistory | RiskAssessment | Observation | DocumentReference)Family history with relevance to report
... diagnosticReport-risk S0..*Reference(RiskAssessment)Risk
URL: http://hl7.org/fhir/StructureDefinition/diagnosticReport-risk
.... valueReference S1..1Reference(RiskAssessment)
... identifier S0..1Identifier
... basedOn S0..*Reference(ServiceRequest)
... status S1..1code
... category S0..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://terminology.hl7.org/CodeSystem/v2-0074","code":"GE"}]}
... code S1..1CodeableConcept
.... coding SCodingSlice: Unordered, Open by value:system, value:code
.... coding S1..1Coding
..... system S1..1uriFixed Value: http://loinc.org
..... code S1..1codeMaster HL7 genetic variant reporting panel
Fixed Value: 81247-9
... subject S0..1Reference(Patient | Group | Location)
... effectiveDateTime S0..1dateTime, Period
... issued S0..1instant
... performer S0..1Reference(Organization)
... specimen S0..*Reference(Specimen)
... result SReference(Observation)Slice: Unordered, Open by pattern:resolve().code
... result S0..*Reference(Genomics Panel)Genetic panel
... result S0..1Reference(Genomic analysis overall interpretation)Assessment of overall results
... result S0..1Reference(Deletion-duplication overall interpretation)Assessment of deletion/duplication results
... result S0..*Reference(Inherited Disease Pathogenicity)Inherited Disease Pathology
... result S0..*Reference(Somatic Diagnostic Impact)Somatic Diagnostic
... result S0..*Reference(Somatic Prognostic Impact)Somatic Prognostic
... result S0..*Reference(Somatic Predictive Impact)Somatic Predictive
... result S0..*Reference(Medication Metabolism Impact)Metabolism Impact
... result S0..*Reference(Medication Efficacy Impact)Efficacy Impact
... result S0..*Reference(High Risk Allele)High-Risk Medication Impact
... result S0..*Reference(Cytogenetic Nomenclature)Cytogenetic Nomenclature
... result S0..*Reference(Genotype)Genotype
... result S0..*Reference(Haplotype)Haplotype
... result S0..*Reference(Complex variation)Complex Variant
... result S0..*Reference(Described Variant)Described Variant
... result S0..*Reference(Region Studied)Region Studied
... imagingStudy 0..0
... media 0..1BackboneElement
... presentedForm S0..*Attachment

doco Documentation for this format

Snapshot View

NameFlagsCard.TypeDescription & Constraintsdoco
.. DiagnosticReport I0..*Genomics Report
... id Σ0..1idLogical id of this artifact
... meta Σ0..1MetaMetadata about the resource
... implicitRules ?!Σ0..1uriA set of rules under which this content was created
... language 0..1codeLanguage of the resource content
Binding: CommonLanguages (preferred)
... text 0..1NarrativeText summary of the resource, for human interpretation
... contained 0..*ResourceContained, inline Resources
... extension 0..*ExtensionExtension
Slice: Unordered, Open by value:url
... dr-relatedArtifact SI0..1RelatedArtifactCitations and supporting info
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/dr-relatedArtifact
... dr-recommendedAction SI0..*Reference(Task | ServiceRequest | MedicationRequest | RequestGroup | CarePlan | DeviceRequest | NutritionOrder | SupplyRequest)Tasks relevant to report
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/dr-recommendedAction
.... id 0..1stringUnique id for inter-element referencing
.... extension 0..*ExtensionAdditional content defined by implementations
Slice: Unordered, Open by value:url
.... url 1..1uri"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/dr-recommendedAction"
.... valueReference S1..1Reference(Task)Recommended action tasks relevant to report
... dr-supportingInfo SI0..*Reference()Other resources that support report
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/dr-supportingInfo
.... id 0..1stringUnique id for inter-element referencing
.... extension 0..*ExtensionAdditional content defined by implementations
Slice: Unordered, Open by value:url
.... url 1..1uri"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/dr-supportingInfo"
.... valueReference S1..1Reference(FamilyMemberHistory | RiskAssessment | Observation | DocumentReference)Family history with relevance to report
... diagnosticReport-risk SI0..*Reference(RiskAssessment)Risk
URL: http://hl7.org/fhir/StructureDefinition/diagnosticReport-risk
.... id 0..1stringUnique id for inter-element referencing
.... extension 0..0
.... url 1..1uri"http://hl7.org/fhir/StructureDefinition/diagnosticReport-risk"
.... valueReference S1..1Reference(RiskAssessment)Value of extension
... modifierExtension ?!0..*ExtensionExtensions that cannot be ignored
... identifier SΣ0..1IdentifierBusiness identifier for report
... basedOn S0..*Reference(ServiceRequest)What was requested
... status ?!SΣ1..1coderegistered | partial | preliminary | final +
Binding: DiagnosticReportStatus (required)
... category SΣ0..1CodeableConceptService category
Binding: DiagnosticServiceSectionCodes (example)

Required Pattern: {"coding":[{"system":"http://terminology.hl7.org/CodeSystem/v2-0074","code":"GE"}]}
... code SΣ1..1CodeableConceptName/Code for this diagnostic report
Binding: LOINCDiagnosticReportCodes (preferred)
.... id 0..1stringUnique id for inter-element referencing
.... extension 0..*ExtensionAdditional content defined by implementations
Slice: Unordered, Open by value:url
.... coding SΣCodingCode defined by a terminology system
Slice: Unordered, Open by value:system, value:code
.... coding SΣ1..1CodingCode defined by a terminology system
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
Slice: Unordered, Open by value:url
..... system SΣ1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
..... version Σ0..1stringVersion of the system - if relevant
..... code SΣ1..1codeMaster HL7 genetic variant reporting panel
Fixed Value: 81247-9
..... display Σ0..1stringRepresentation defined by the system
..... userSelected Σ0..1booleanIf this coding was chosen directly by the user
.... text Σ0..1stringPlain text representation of the concept
... subject SΣ0..1Reference(Patient | Group | Location)The subject of the report - usually, but not always, the patient
... encounter Σ0..1Reference(Encounter)Health care event when test ordered
... effective[x] SΣ0..1dateTime, PeriodClinically relevant time/time-period for report
... issued SΣ0..1instantDateTime this version was made
... performer SΣ0..1Reference(Organization)Responsible Diagnostic Service
... resultsInterpreter Σ0..*Reference(Practitioner | PractitionerRole | Organization | CareTeam)Primary result interpreter
... specimen S0..*Reference(Specimen)Specimens this report is based on
... result SReference(Observation)Observations
Slice: Unordered, Open by pattern:resolve().code
... result S0..*Reference(Genomics Panel)Genetic panel
... result S0..1Reference(Genomic analysis overall interpretation)Assessment of overall results
... result S0..1Reference(Deletion-duplication overall interpretation)Assessment of deletion/duplication results
... result S0..*Reference(Inherited Disease Pathogenicity)Inherited Disease Pathology
... result S0..*Reference(Somatic Diagnostic Impact)Somatic Diagnostic
... result S0..*Reference(Somatic Prognostic Impact)Somatic Prognostic
... result S0..*Reference(Somatic Predictive Impact)Somatic Predictive
... result S0..*Reference(Medication Metabolism Impact)Metabolism Impact
... result S0..*Reference(Medication Efficacy Impact)Efficacy Impact
... result S0..*Reference(High Risk Allele)High-Risk Medication Impact
... result S0..*Reference(Cytogenetic Nomenclature)Cytogenetic Nomenclature
... result S0..*Reference(Genotype)Genotype
... result S0..*Reference(Haplotype)Haplotype
... result S0..*Reference(Complex variation)Complex Variant
... result S0..*Reference(Described Variant)Described Variant
... result S0..*Reference(Region Studied)Region Studied
... media ΣI0..1BackboneElementKey images associated with this report
.... id 0..1stringUnique id for inter-element referencing
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
.... comment 0..1stringComment about the image (e.g. explanation)
.... link Σ1..1Reference(Media)Reference to the image source
... conclusion 0..1stringClinical conclusion (interpretation) of test results
... conclusionCode 0..*CodeableConceptCodes for the clinical conclusion of test results
Binding: SNOMEDCTClinicalFindings (example)
... presentedForm S0..*AttachmentEntire report as issued

doco Documentation for this format

 

Other representations of profile: Schematron

Terminology Bindings

PathNameConformanceValueSet
DiagnosticReport.languageCommon LanguagespreferredCommonLanguages
DiagnosticReport.statusDiagnosticReportStatusrequiredDiagnosticReportStatus
DiagnosticReport.categoryDiagnostic Service Section CodesexampleDiagnosticServiceSectionCodes
DiagnosticReport.codeLOINC Diagnostic Report CodespreferredLOINCDiagnosticReportCodes
DiagnosticReport.conclusionCodeSNOMED CT Clinical FindingsexampleSNOMEDCTClinicalFindings

Constraints

IdPathDetailsRequirements
dom-2DiagnosticReportIf the resource is contained in another resource, it SHALL NOT contain nested Resources
: contained.contained.empty()
dom-4DiagnosticReportIf a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated
: contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
dom-3DiagnosticReportIf the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource
: contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
dom-6DiagnosticReportA resource should have narrative for robust management
: text.div.exists()
dom-5DiagnosticReportIf a resource is contained in another resource, it SHALL NOT have a security label
: contained.meta.security.empty()
ele-1DiagnosticReport.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1DiagnosticReport.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1DiagnosticReport.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1DiagnosticReport.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1DiagnosticReport.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1DiagnosticReport.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1DiagnosticReport.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1DiagnosticReport.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1DiagnosticReport.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1DiagnosticReport.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1DiagnosticReport.mediaAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())