GenomeX Data Exchange FHIR IG
0.2.0 - draft

GenomeX Data Exchange FHIR IG, published by MITRE. This guide is not an authorized publication; it is the continuous build for version 0.2.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/CodeX-HL7-FHIR-Accelerator/GenomeX-DataExchange/ and changes regularly. See the Directory of published versions

Resource Profile: Genomic Report Profile

Official URL: http://mitre.org/gdx/StructureDefinition/gdx-genomic-report Version: 0.2.0
Draft as of 2025-12-17 Maturity Level: 1 Computable Name: GdxGenomicReport

Genomic analysis summary report. The report may include one or more tests, with two distinct test types. The first type is a targeted mutation test, where a specific mutation on a specific gene is tested for. The result is either positive or negative for that mutation. The second type is a more general test for variants. This type of test returns the identity of variants found in a certain region of the genome.

Usages:

  • This Profile is not used by any profiles in this Implementation Guide

You can also check for usages in the FHIR IG Statistics

Formal Views of Profile Content

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

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. DiagnosticReport 0..* GenomicReport A Diagnostic report - a combination of request information, atomic results, images, interpretation, as well as formatted reports
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... Slices for extension Content/Rules for all slices
.... extension:recommended-action 0..* Reference(Medication Recommendation | Followup Recommendation) Recommended Action
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action
.... extension:genomic-risk-assessment 0..* Reference(RiskAssessment) Genomic Risk Assessment
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment
.... extension:coded-note 0..* CodedAnnotation Comments about the report that also contain a coded type
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report-note
.... extension:supporting-info 0..* Reference(Resource) Other information that may be relevant to this event.
URL: http://hl7.org/fhir/StructureDefinition/workflow-supportingInfo
.... extension:genomic-study 0..* Reference(Genomic Study) Reference to full details of an genomic study associated with the diagnostic report
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-reference
.... extension:hla-genotyping-results-allele-database 0..1 CodeableConcept Allele Database
URL: http://hl7.org/fhir/StructureDefinition/hla-genotyping-results-allele-database
.... extension:hla-genotyping-results-glstring 0..1 (Complex) glstring
URL: http://hl7.org/fhir/StructureDefinition/hla-genotyping-results-glstring
.... extension:workflow-relatedArtifact 0..* RelatedArtifact Documentation relevant to the 'parent' resource
URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... status ?!SΣ 1..1 code registered | partial | preliminary | final +
Binding: DiagnosticReportStatus (required): The status of the diagnostic report.
... Slices for category SΣ 1..* CodeableConcept Service category
Slice: Unordered, Open by pattern:coding
Binding: DiagnosticServiceSectionCodes (example): Codes for diagnostic service sections.
.... category:Genetics Σ 1..1 CodeableConcept Service category
Binding: DiagnosticServiceSectionCodes (example): Codes for diagnostic service sections.
..... coding Σ 1..1 Coding Code defined by a terminology system

Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... system 1..1 uri Identity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/v2-0074
...... version 0..1 string Version of the system - if relevant
...... code 1..1 code Symbol in syntax defined by the system
Fixed Value: GE
...... display 0..1 string Representation defined by the system
...... userSelected 0..1 boolean If this coding was chosen directly by the user
... code SΣ 1..1 CodeableConcept Name/Code for this diagnostic report
Binding: LOINCDiagnosticReportCodes (preferred): Codes that describe Diagnostic Reports.
Required Pattern: At least the following
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
.... coding 1..* Coding Code defined by a terminology system
Fixed Value: (Complex)
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
..... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
..... version 0..1 string Version of the system - if relevant
..... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 51969-4
..... display 0..1 string Representation defined by the system
..... userSelected 0..1 boolean If this coding was chosen directly by the user
.... text 0..1 string Plain text representation of the concept
... subject SΣ 0..1 Reference(GDX Patient) The subject of the report - usually, but not always, the patient
... effective[x] SΣ 0..1 dateTime Clinically relevant time/time-period for report
... issued SΣ 0..1 instant DateTime this version was made
... performer SΣ 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam) Responsible Diagnostic Service
... specimen S 0..* Reference(Specimen) Specimens this report is based on
... Slices for result S 0..* Reference(Observation) Observations
Slice: Unordered, Open by profile:resolve()
.... result:overall 0..1 Reference(Overall Interpretation) Assessment of overall results
.... result:diagnostic-implication 0..* Reference(Diagnostic Implication) Diagnostic Implication
.... result:therapeutic-implication 0..* Reference(Therapeutic Implication) Therapeutic Implication
.... result:molecular-consequence 0..* Reference(Molecular Consequence) Molecular Consequence
.... result:variant 0..* Reference(GDX Variant) Variant
.... result:sequence-phase-relation 0..* Reference(Sequence Phase Relationship) Sequence Phase Relationship
.... result:genotype 0..* Reference(Genotype) Genotype
.... result:haplotype 0..* Reference(Haplotype) Haplotype
.... result:biomarker 0..* Reference(Molecular Biomarker) MolecularBiomarker
... conclusion S 0..1 string Clinical conclusion (interpretation) of test results
... conclusionCode S 0..* CodeableConcept Codes for the clinical conclusion of test results
Binding: SNOMEDCTClinicalFindings (example): Diagnosis codes provided as adjuncts to the report.

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
DiagnosticReport.status Base required DiagnosticReportStatus 📍4.0.1 FHIR Std.
DiagnosticReport.category Base example Diagnostic Service Section Codes 📦4.0.1 FHIR Std.
DiagnosticReport.category:Genetics Base example Diagnostic Service Section Codes 📦4.0.1 FHIR Std.
DiagnosticReport.code Base preferred LOINC Diagnostic Report Codes 📦4.0.1 FHIR Std.
DiagnosticReport.conclusionCode Base example SNOMED CT Clinical Findings 📦4.0.1 FHIR Std.

Constraints

Id Grade Path(s) Description Expression
dom-2 error DiagnosticReport If the resource is contained in another resource, it SHALL NOT contain nested Resources contained.contained.empty()
dom-3 error DiagnosticReport If 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-4 error DiagnosticReport If 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-5 error DiagnosticReport If a resource is contained in another resource, it SHALL NOT have a security label contained.meta.security.empty()
dom-6 best practice DiagnosticReport A resource should have narrative for robust management text.`div`.exists()
ele-1 error **ALL** elements All FHIR elements must have a @value or children hasValue() or (children().count() > id.count())
ext-1 error **ALL** extensions Must have either extensions or value[x], not both extension.exists() != value.exists()

This structure is derived from GenomicReport

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. DiagnosticReport 0..* GenomicReport A Diagnostic report - a combination of request information, atomic results, images, interpretation, as well as formatted reports
... basedOn S 0..* Reference(CarePlan | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) What was requested
... status S 1..1 code registered | partial | preliminary | final +
... category S 1..* CodeableConcept Service category
... subject S 0..1 Reference(GDX Patient) The subject of the report - usually, but not always, the patient
... effective[x] S 0..1 dateTime Clinically relevant time/time-period for report
... issued S 0..1 instant DateTime this version was made
... performer S 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam) Responsible Diagnostic Service
... specimen S 0..* Reference(Specimen) Specimens this report is based on
... result S 0..* Reference(Observation) Observations
... Slices for result Content/Rules for all slices
.... result:variant 0..* Reference(GDX Variant) Variant
... conclusion S 0..1 string Clinical conclusion (interpretation) of test results
... conclusionCode S 0..* CodeableConcept Codes for the clinical conclusion of test results

doco Documentation for this format
NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. DiagnosticReport 0..* GenomicReport A Diagnostic report - a combination of request information, atomic results, images, interpretation, as well as formatted reports
... id Σ 0..1 id Logical id of this artifact
... meta Σ 0..1 Meta Metadata about the resource
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... text 0..1 Narrative Text summary of the resource, for human interpretation
This profile does not constrain the narrative in regard to content, language, or traceability to data elements
... contained 0..* Resource Contained, inline Resources
... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
.... extension:recommended-action 0..* Reference(Medication Recommendation | Followup Recommendation) Recommended Action
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action
.... extension:genomic-risk-assessment 0..* Reference(RiskAssessment) Genomic Risk Assessment
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment
.... extension:coded-note 0..* CodedAnnotation Comments about the report that also contain a coded type
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report-note
.... extension:supporting-info 0..* Reference(Resource) Other information that may be relevant to this event.
URL: http://hl7.org/fhir/StructureDefinition/workflow-supportingInfo
.... extension:genomic-study 0..* Reference(Genomic Study) Reference to full details of an genomic study associated with the diagnostic report
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-reference
.... extension:hla-genotyping-results-allele-database 0..1 CodeableConcept Allele Database
URL: http://hl7.org/fhir/StructureDefinition/hla-genotyping-results-allele-database
.... extension:hla-genotyping-results-glstring 0..1 (Complex) glstring
URL: http://hl7.org/fhir/StructureDefinition/hla-genotyping-results-glstring
.... extension:workflow-relatedArtifact 0..* RelatedArtifact Documentation relevant to the 'parent' resource
URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... identifier Σ 0..* Identifier Business identifier for report
... basedOn S 0..* Reference(CarePlan | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) What was requested
... status ?!SΣ 1..1 code registered | partial | preliminary | final +
Binding: DiagnosticReportStatus (required): The status of the diagnostic report.
... Slices for category SΣ 1..* CodeableConcept Service category
Slice: Unordered, Open by pattern:coding
Binding: DiagnosticServiceSectionCodes (example): Codes for diagnostic service sections.
.... category:Genetics Σ 1..1 CodeableConcept Service category
Binding: DiagnosticServiceSectionCodes (example): Codes for diagnostic service sections.
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... coding Σ 1..1 Coding Code defined by a terminology system

Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... system 1..1 uri Identity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/v2-0074
...... version 0..1 string Version of the system - if relevant
...... code 1..1 code Symbol in syntax defined by the system
Fixed Value: GE
...... display 0..1 string Representation defined by the system
...... userSelected 0..1 boolean If this coding was chosen directly by the user
..... text Σ 0..1 string Plain text representation of the concept
... code SΣ 1..1 CodeableConcept Name/Code for this diagnostic report
Binding: LOINCDiagnosticReportCodes (preferred): Codes that describe Diagnostic Reports.
Required Pattern: At least the following
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
.... coding 1..* Coding Code defined by a terminology system
Fixed Value: (Complex)
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
..... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
..... version 0..1 string Version of the system - if relevant
..... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 51969-4
..... display 0..1 string Representation defined by the system
..... userSelected 0..1 boolean If this coding was chosen directly by the user
.... text 0..1 string Plain text representation of the concept
... subject SΣ 0..1 Reference(GDX Patient) The subject of the report - usually, but not always, the patient
... encounter Σ 0..1 Reference(Encounter) Health care event when test ordered
... effective[x] SΣ 0..1 dateTime Clinically relevant time/time-period for report
... issued SΣ 0..1 instant DateTime this version was made
... performer SΣ 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam) Responsible Diagnostic Service
... resultsInterpreter Σ 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam) Primary result interpreter
... specimen S 0..* Reference(Specimen) Specimens this report is based on
... Slices for result S 0..* Reference(Observation) Observations
Slice: Unordered, Open by profile:resolve()
.... result:overall 0..1 Reference(Overall Interpretation) Assessment of overall results
.... result:diagnostic-implication 0..* Reference(Diagnostic Implication) Diagnostic Implication
.... result:therapeutic-implication 0..* Reference(Therapeutic Implication) Therapeutic Implication
.... result:molecular-consequence 0..* Reference(Molecular Consequence) Molecular Consequence
.... result:variant 0..* Reference(GDX Variant) Variant
.... result:sequence-phase-relation 0..* Reference(Sequence Phase Relationship) Sequence Phase Relationship
.... result:genotype 0..* Reference(Genotype) Genotype
.... result:haplotype 0..* Reference(Haplotype) Haplotype
.... result:biomarker 0..* Reference(Molecular Biomarker) MolecularBiomarker
... imagingStudy 0..* Reference(ImagingStudy) Reference to full details of imaging associated with the diagnostic report
... media Σ 0..* BackboneElement Key images associated with this report
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... comment 0..1 string Comment about the image (e.g. explanation)
.... link Σ 1..1 Reference(Media) Reference to the image source
... conclusion S 0..1 string Clinical conclusion (interpretation) of test results
... conclusionCode S 0..* CodeableConcept Codes for the clinical conclusion of test results
Binding: SNOMEDCTClinicalFindings (example): Diagnosis codes provided as adjuncts to the report.
... presentedForm 0..* Attachment Entire report as issued

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
DiagnosticReport.language Base preferred Common Languages 📦4.0.1 FHIR Std.
DiagnosticReport.status Base required DiagnosticReportStatus 📍4.0.1 FHIR Std.
DiagnosticReport.category Base example Diagnostic Service Section Codes 📦4.0.1 FHIR Std.
DiagnosticReport.category:Genetics Base example Diagnostic Service Section Codes 📦4.0.1 FHIR Std.
DiagnosticReport.code Base preferred LOINC Diagnostic Report Codes 📦4.0.1 FHIR Std.
DiagnosticReport.conclusionCode Base example SNOMED CT Clinical Findings 📦4.0.1 FHIR Std.

Constraints

Id Grade Path(s) Description Expression
dom-2 error DiagnosticReport If the resource is contained in another resource, it SHALL NOT contain nested Resources contained.contained.empty()
dom-3 error DiagnosticReport If 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-4 error DiagnosticReport If 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-5 error DiagnosticReport If a resource is contained in another resource, it SHALL NOT have a security label contained.meta.security.empty()
dom-6 best practice DiagnosticReport A resource should have narrative for robust management text.`div`.exists()
ele-1 error **ALL** elements All FHIR elements must have a @value or children hasValue() or (children().count() > id.count())
ext-1 error **ALL** extensions Must have either extensions or value[x], not both extension.exists() != value.exists()

This structure is derived from GenomicReport

Summary

Must-Support: 12 elements

Structures

This structure refers to these other structures:

Maturity: 1

Key Elements View

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. DiagnosticReport 0..* GenomicReport A Diagnostic report - a combination of request information, atomic results, images, interpretation, as well as formatted reports
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... Slices for extension Content/Rules for all slices
.... extension:recommended-action 0..* Reference(Medication Recommendation | Followup Recommendation) Recommended Action
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action
.... extension:genomic-risk-assessment 0..* Reference(RiskAssessment) Genomic Risk Assessment
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment
.... extension:coded-note 0..* CodedAnnotation Comments about the report that also contain a coded type
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report-note
.... extension:supporting-info 0..* Reference(Resource) Other information that may be relevant to this event.
URL: http://hl7.org/fhir/StructureDefinition/workflow-supportingInfo
.... extension:genomic-study 0..* Reference(Genomic Study) Reference to full details of an genomic study associated with the diagnostic report
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-reference
.... extension:hla-genotyping-results-allele-database 0..1 CodeableConcept Allele Database
URL: http://hl7.org/fhir/StructureDefinition/hla-genotyping-results-allele-database
.... extension:hla-genotyping-results-glstring 0..1 (Complex) glstring
URL: http://hl7.org/fhir/StructureDefinition/hla-genotyping-results-glstring
.... extension:workflow-relatedArtifact 0..* RelatedArtifact Documentation relevant to the 'parent' resource
URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... status ?!SΣ 1..1 code registered | partial | preliminary | final +
Binding: DiagnosticReportStatus (required): The status of the diagnostic report.
... Slices for category SΣ 1..* CodeableConcept Service category
Slice: Unordered, Open by pattern:coding
Binding: DiagnosticServiceSectionCodes (example): Codes for diagnostic service sections.
.... category:Genetics Σ 1..1 CodeableConcept Service category
Binding: DiagnosticServiceSectionCodes (example): Codes for diagnostic service sections.
..... coding Σ 1..1 Coding Code defined by a terminology system

Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... system 1..1 uri Identity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/v2-0074
...... version 0..1 string Version of the system - if relevant
...... code 1..1 code Symbol in syntax defined by the system
Fixed Value: GE
...... display 0..1 string Representation defined by the system
...... userSelected 0..1 boolean If this coding was chosen directly by the user
... code SΣ 1..1 CodeableConcept Name/Code for this diagnostic report
Binding: LOINCDiagnosticReportCodes (preferred): Codes that describe Diagnostic Reports.
Required Pattern: At least the following
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
.... coding 1..* Coding Code defined by a terminology system
Fixed Value: (Complex)
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
..... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
..... version 0..1 string Version of the system - if relevant
..... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 51969-4
..... display 0..1 string Representation defined by the system
..... userSelected 0..1 boolean If this coding was chosen directly by the user
.... text 0..1 string Plain text representation of the concept
... subject SΣ 0..1 Reference(GDX Patient) The subject of the report - usually, but not always, the patient
... effective[x] SΣ 0..1 dateTime Clinically relevant time/time-period for report
... issued SΣ 0..1 instant DateTime this version was made
... performer SΣ 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam) Responsible Diagnostic Service
... specimen S 0..* Reference(Specimen) Specimens this report is based on
... Slices for result S 0..* Reference(Observation) Observations
Slice: Unordered, Open by profile:resolve()
.... result:overall 0..1 Reference(Overall Interpretation) Assessment of overall results
.... result:diagnostic-implication 0..* Reference(Diagnostic Implication) Diagnostic Implication
.... result:therapeutic-implication 0..* Reference(Therapeutic Implication) Therapeutic Implication
.... result:molecular-consequence 0..* Reference(Molecular Consequence) Molecular Consequence
.... result:variant 0..* Reference(GDX Variant) Variant
.... result:sequence-phase-relation 0..* Reference(Sequence Phase Relationship) Sequence Phase Relationship
.... result:genotype 0..* Reference(Genotype) Genotype
.... result:haplotype 0..* Reference(Haplotype) Haplotype
.... result:biomarker 0..* Reference(Molecular Biomarker) MolecularBiomarker
... conclusion S 0..1 string Clinical conclusion (interpretation) of test results
... conclusionCode S 0..* CodeableConcept Codes for the clinical conclusion of test results
Binding: SNOMEDCTClinicalFindings (example): Diagnosis codes provided as adjuncts to the report.

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
DiagnosticReport.status Base required DiagnosticReportStatus 📍4.0.1 FHIR Std.
DiagnosticReport.category Base example Diagnostic Service Section Codes 📦4.0.1 FHIR Std.
DiagnosticReport.category:Genetics Base example Diagnostic Service Section Codes 📦4.0.1 FHIR Std.
DiagnosticReport.code Base preferred LOINC Diagnostic Report Codes 📦4.0.1 FHIR Std.
DiagnosticReport.conclusionCode Base example SNOMED CT Clinical Findings 📦4.0.1 FHIR Std.

Constraints

Id Grade Path(s) Description Expression
dom-2 error DiagnosticReport If the resource is contained in another resource, it SHALL NOT contain nested Resources contained.contained.empty()
dom-3 error DiagnosticReport If 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-4 error DiagnosticReport If 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-5 error DiagnosticReport If a resource is contained in another resource, it SHALL NOT have a security label contained.meta.security.empty()
dom-6 best practice DiagnosticReport A resource should have narrative for robust management text.`div`.exists()
ele-1 error **ALL** elements All FHIR elements must have a @value or children hasValue() or (children().count() > id.count())
ext-1 error **ALL** extensions Must have either extensions or value[x], not both extension.exists() != value.exists()

Differential View

This structure is derived from GenomicReport

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. DiagnosticReport 0..* GenomicReport A Diagnostic report - a combination of request information, atomic results, images, interpretation, as well as formatted reports
... basedOn S 0..* Reference(CarePlan | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) What was requested
... status S 1..1 code registered | partial | preliminary | final +
... category S 1..* CodeableConcept Service category
... subject S 0..1 Reference(GDX Patient) The subject of the report - usually, but not always, the patient
... effective[x] S 0..1 dateTime Clinically relevant time/time-period for report
... issued S 0..1 instant DateTime this version was made
... performer S 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam) Responsible Diagnostic Service
... specimen S 0..* Reference(Specimen) Specimens this report is based on
... result S 0..* Reference(Observation) Observations
... Slices for result Content/Rules for all slices
.... result:variant 0..* Reference(GDX Variant) Variant
... conclusion S 0..1 string Clinical conclusion (interpretation) of test results
... conclusionCode S 0..* CodeableConcept Codes for the clinical conclusion of test results

doco Documentation for this format

Snapshot View

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. DiagnosticReport 0..* GenomicReport A Diagnostic report - a combination of request information, atomic results, images, interpretation, as well as formatted reports
... id Σ 0..1 id Logical id of this artifact
... meta Σ 0..1 Meta Metadata about the resource
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... text 0..1 Narrative Text summary of the resource, for human interpretation
This profile does not constrain the narrative in regard to content, language, or traceability to data elements
... contained 0..* Resource Contained, inline Resources
... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
.... extension:recommended-action 0..* Reference(Medication Recommendation | Followup Recommendation) Recommended Action
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action
.... extension:genomic-risk-assessment 0..* Reference(RiskAssessment) Genomic Risk Assessment
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment
.... extension:coded-note 0..* CodedAnnotation Comments about the report that also contain a coded type
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report-note
.... extension:supporting-info 0..* Reference(Resource) Other information that may be relevant to this event.
URL: http://hl7.org/fhir/StructureDefinition/workflow-supportingInfo
.... extension:genomic-study 0..* Reference(Genomic Study) Reference to full details of an genomic study associated with the diagnostic report
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-reference
.... extension:hla-genotyping-results-allele-database 0..1 CodeableConcept Allele Database
URL: http://hl7.org/fhir/StructureDefinition/hla-genotyping-results-allele-database
.... extension:hla-genotyping-results-glstring 0..1 (Complex) glstring
URL: http://hl7.org/fhir/StructureDefinition/hla-genotyping-results-glstring
.... extension:workflow-relatedArtifact 0..* RelatedArtifact Documentation relevant to the 'parent' resource
URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... identifier Σ 0..* Identifier Business identifier for report
... basedOn S 0..* Reference(CarePlan | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) What was requested
... status ?!SΣ 1..1 code registered | partial | preliminary | final +
Binding: DiagnosticReportStatus (required): The status of the diagnostic report.
... Slices for category SΣ 1..* CodeableConcept Service category
Slice: Unordered, Open by pattern:coding
Binding: DiagnosticServiceSectionCodes (example): Codes for diagnostic service sections.
.... category:Genetics Σ 1..1 CodeableConcept Service category
Binding: DiagnosticServiceSectionCodes (example): Codes for diagnostic service sections.
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... coding Σ 1..1 Coding Code defined by a terminology system

Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... system 1..1 uri Identity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/v2-0074
...... version 0..1 string Version of the system - if relevant
...... code 1..1 code Symbol in syntax defined by the system
Fixed Value: GE
...... display 0..1 string Representation defined by the system
...... userSelected 0..1 boolean If this coding was chosen directly by the user
..... text Σ 0..1 string Plain text representation of the concept
... code SΣ 1..1 CodeableConcept Name/Code for this diagnostic report
Binding: LOINCDiagnosticReportCodes (preferred): Codes that describe Diagnostic Reports.
Required Pattern: At least the following
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
.... coding 1..* Coding Code defined by a terminology system
Fixed Value: (Complex)
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
..... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
..... version 0..1 string Version of the system - if relevant
..... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 51969-4
..... display 0..1 string Representation defined by the system
..... userSelected 0..1 boolean If this coding was chosen directly by the user
.... text 0..1 string Plain text representation of the concept
... subject SΣ 0..1 Reference(GDX Patient) The subject of the report - usually, but not always, the patient
... encounter Σ 0..1 Reference(Encounter) Health care event when test ordered
... effective[x] SΣ 0..1 dateTime Clinically relevant time/time-period for report
... issued SΣ 0..1 instant DateTime this version was made
... performer SΣ 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam) Responsible Diagnostic Service
... resultsInterpreter Σ 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam) Primary result interpreter
... specimen S 0..* Reference(Specimen) Specimens this report is based on
... Slices for result S 0..* Reference(Observation) Observations
Slice: Unordered, Open by profile:resolve()
.... result:overall 0..1 Reference(Overall Interpretation) Assessment of overall results
.... result:diagnostic-implication 0..* Reference(Diagnostic Implication) Diagnostic Implication
.... result:therapeutic-implication 0..* Reference(Therapeutic Implication) Therapeutic Implication
.... result:molecular-consequence 0..* Reference(Molecular Consequence) Molecular Consequence
.... result:variant 0..* Reference(GDX Variant) Variant
.... result:sequence-phase-relation 0..* Reference(Sequence Phase Relationship) Sequence Phase Relationship
.... result:genotype 0..* Reference(Genotype) Genotype
.... result:haplotype 0..* Reference(Haplotype) Haplotype
.... result:biomarker 0..* Reference(Molecular Biomarker) MolecularBiomarker
... imagingStudy 0..* Reference(ImagingStudy) Reference to full details of imaging associated with the diagnostic report
... media Σ 0..* BackboneElement Key images associated with this report
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... comment 0..1 string Comment about the image (e.g. explanation)
.... link Σ 1..1 Reference(Media) Reference to the image source
... conclusion S 0..1 string Clinical conclusion (interpretation) of test results
... conclusionCode S 0..* CodeableConcept Codes for the clinical conclusion of test results
Binding: SNOMEDCTClinicalFindings (example): Diagnosis codes provided as adjuncts to the report.
... presentedForm 0..* Attachment Entire report as issued

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
DiagnosticReport.language Base preferred Common Languages 📦4.0.1 FHIR Std.
DiagnosticReport.status Base required DiagnosticReportStatus 📍4.0.1 FHIR Std.
DiagnosticReport.category Base example Diagnostic Service Section Codes 📦4.0.1 FHIR Std.
DiagnosticReport.category:Genetics Base example Diagnostic Service Section Codes 📦4.0.1 FHIR Std.
DiagnosticReport.code Base preferred LOINC Diagnostic Report Codes 📦4.0.1 FHIR Std.
DiagnosticReport.conclusionCode Base example SNOMED CT Clinical Findings 📦4.0.1 FHIR Std.

Constraints

Id Grade Path(s) Description Expression
dom-2 error DiagnosticReport If the resource is contained in another resource, it SHALL NOT contain nested Resources contained.contained.empty()
dom-3 error DiagnosticReport If 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-4 error DiagnosticReport If 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-5 error DiagnosticReport If a resource is contained in another resource, it SHALL NOT have a security label contained.meta.security.empty()
dom-6 best practice DiagnosticReport A resource should have narrative for robust management text.`div`.exists()
ele-1 error **ALL** elements All FHIR elements must have a @value or children hasValue() or (children().count() > id.count())
ext-1 error **ALL** extensions Must have either extensions or value[x], not both extension.exists() != value.exists()

This structure is derived from GenomicReport

Summary

Must-Support: 12 elements

Structures

This structure refers to these other structures:

Maturity: 1

 

Other representations of profile: CSV, Excel, Schematron