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

• Content
• Detailed Descriptions
• Mappings
• XML
• JSON

Resource Profile: Genomic Report Profile

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.

Usage:

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

Formal Views of Profile Content

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

• Differential Table
• Key Elements Table
• Snapshot Table
• Statistics/References
• All

This structure is derived from GenomicReport

Name	Flags	Card.	Type	Description & Constraints
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
code	S	1..1	CodeableConcept	Name/Code for this diagnostic report
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
Documentation for this format

Name	Flags	Card.	Type	Description & Constraints
DiagnosticReport		0..*	GenomicReport	A Diagnostic report - a combination of request information, atomic results, images, interpretation, as well as formatted reports dom-2: If the resource is contained in another resource, it SHALL NOT contain nested Resources dom-3: 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 dom-4: If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated dom-5: If a resource is contained in another resource, it SHALL NOT have a security label dom-6: A resource should have narrative for robust management
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created ele-1: All FHIR elements must have a @value or children
Slices for extension				Content/Rules for all slices
recommended-action		0..*	Reference(Medication Recommendation | Followup Recommendation)	Recommended Action URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
genomic-risk-assessment		0..*	Reference(RiskAssessment)	Genomic Risk Assessment URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
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 ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
supporting-info		0..*	Reference(Resource)	Other information that may be relevant to this event. URL: http://hl7.org/fhir/StructureDefinition/workflow-supportingInfo ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
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 ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
hla-genotyping-results-allele-database		0..1	CodeableConcept	Allele Database URL: http://hl7.org/fhir/StructureDefinition/hla-genotyping-results-allele-database ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
hla-genotyping-results-glstring		0..1	(Complex)	glstring URL: http://hl7.org/fhir/StructureDefinition/hla-genotyping-results-glstring ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
workflow-relatedArtifact		0..*	RelatedArtifact	Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
modifierExtension	?!	0..*	Extension	Extensions that cannot be ignored ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
basedOn	S	0..*	Reference(CarePlan | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest)	What was requested ele-1: All FHIR elements must have a @value or children
status	?!SΣ	1..1	code	registered | partial | preliminary | final + Binding: DiagnosticReportStatus (required): The status of the diagnostic report. ele-1: All FHIR elements must have a @value or children
Slices for category	SΣ	1..*	CodeableConcept	Service category Slice: Unordered, Open by pattern:coding Binding: DiagnosticServiceSectionCodes (example): Codes for diagnostic service sections. ele-1: All FHIR elements must have a @value or children
category:Genetics	Σ	1..1	CodeableConcept	Service category Binding: DiagnosticServiceSectionCodes (example): Codes for diagnostic service sections. ele-1: All FHIR elements must have a @value or children
coding	Σ	1..1	Coding	Code defined by a terminology system ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following
system		1..1	uri	Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/v2-0074
code		1..1	code	Symbol in syntax defined by the system Fixed Value: GE
code	SΣ	1..1	CodeableConcept	Name/Code for this diagnostic report Binding: LOINCDiagnosticReportCodes (preferred): Codes that describe Diagnostic Reports. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 51969-4
subject	SΣ	0..1	Reference(GDX Patient)	The subject of the report - usually, but not always, the patient ele-1: All FHIR elements must have a @value or children
effective[x]	SΣ	0..1	dateTime	Clinically relevant time/time-period for report ele-1: All FHIR elements must have a @value or children
issued	SΣ	0..1	instant	DateTime this version was made ele-1: All FHIR elements must have a @value or children
performer	SΣ	0..*	Reference(Practitioner | PractitionerRole | Organization | CareTeam)	Responsible Diagnostic Service ele-1: All FHIR elements must have a @value or children
specimen	S	0..*	Reference(Specimen)	Specimens this report is based on ele-1: All FHIR elements must have a @value or children
Slices for result	S	0..*	Reference(Observation)	Observations Slice: Unordered, Open by profile:resolve() ele-1: All FHIR elements must have a @value or children
result:overall		0..1	Reference(Overall Interpretation)	Assessment of overall results ele-1: All FHIR elements must have a @value or children
result:diagnostic-implication		0..*	Reference(Diagnostic Implication)	Diagnostic Implication ele-1: All FHIR elements must have a @value or children
result:therapeutic-implication		0..*	Reference(Therapeutic Implication)	Therapeutic Implication ele-1: All FHIR elements must have a @value or children
result:molecular-consequence		0..*	Reference(Molecular Consequence)	Molecular Consequence ele-1: All FHIR elements must have a @value or children
result:variant		0..*	Reference(GDX Variant)	Variant ele-1: All FHIR elements must have a @value or children
result:sequence-phase-relation		0..*	Reference(Sequence Phase Relationship)	Sequence Phase Relationship ele-1: All FHIR elements must have a @value or children
result:genotype		0..*	Reference(Genotype)	Genotype ele-1: All FHIR elements must have a @value or children
result:haplotype		0..*	Reference(Haplotype)	Haplotype ele-1: All FHIR elements must have a @value or children
result:biomarker		0..*	Reference(Molecular Biomarker)	MolecularBiomarker ele-1: All FHIR elements must have a @value or children
conclusion	S	0..1	string	Clinical conclusion (interpretation) of test results ele-1: All FHIR elements must have a @value or children
conclusionCode	S	0..*	CodeableConcept	Codes for the clinical conclusion of test results Binding: SNOMEDCTClinicalFindings (example): Diagnosis codes provided as adjuncts to the report. ele-1: All FHIR elements must have a @value or children
Documentation for this format

Terminology Bindings

Path	Conformance	ValueSet / Code	URI
DiagnosticReport.status	required	DiagnosticReportStatus http://hl7.org/fhir/ValueSet/diagnostic-report-status|4.0.1 from the FHIR Standard
DiagnosticReport.category	example	DiagnosticServiceSectionCodes http://hl7.org/fhir/ValueSet/diagnostic-service-sections from the FHIR Standard
DiagnosticReport.category:Genetics	example	DiagnosticServiceSectionCodes http://hl7.org/fhir/ValueSet/diagnostic-service-sections from the FHIR Standard
DiagnosticReport.code	preferred	Pattern: LOINC Code 51969-4 http://hl7.org/fhir/ValueSet/report-codes from the FHIR Standard
DiagnosticReport.conclusionCode	example	SNOMEDCTClinicalFindings http://hl7.org/fhir/ValueSet/clinical-findings from the FHIR Standard

Constraints

Id	Grade	Path(s)	Details	Requirements
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()

Name	Flags	Card.	Type	Description & Constraints
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
language		0..1	code	Language of the resource content Binding: CommonLanguages (preferred): A human language. Additional Bindings Purpose AllLanguages Max Binding
text		0..1	Narrative	Text summary of the resource, for human interpretation
contained		0..*	Resource	Contained, inline Resources
Slices for extension		0..*	Extension	Extension Slice: Unordered, Open by value:url
recommended-action		0..*	Reference(Medication Recommendation | Followup Recommendation)	Recommended Action URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action
genomic-risk-assessment		0..*	Reference(RiskAssessment)	Genomic Risk Assessment URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment
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
supporting-info		0..*	Reference(Resource)	Other information that may be relevant to this event. URL: http://hl7.org/fhir/StructureDefinition/workflow-supportingInfo
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
hla-genotyping-results-allele-database		0..1	CodeableConcept	Allele Database URL: http://hl7.org/fhir/StructureDefinition/hla-genotyping-results-allele-database
hla-genotyping-results-glstring		0..1	(Complex)	glstring URL: http://hl7.org/fhir/StructureDefinition/hla-genotyping-results-glstring
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
Documentation for this format

Terminology Bindings

Path	Conformance	ValueSet / Code	URI
DiagnosticReport.language	preferred	CommonLanguages http://hl7.org/fhir/ValueSet/languages from the FHIR Standard Additional Bindings Purpose AllLanguages Max Binding
DiagnosticReport.status	required	DiagnosticReportStatus http://hl7.org/fhir/ValueSet/diagnostic-report-status|4.0.1 from the FHIR Standard
DiagnosticReport.category	example	DiagnosticServiceSectionCodes http://hl7.org/fhir/ValueSet/diagnostic-service-sections from the FHIR Standard
DiagnosticReport.category:Genetics	example	DiagnosticServiceSectionCodes http://hl7.org/fhir/ValueSet/diagnostic-service-sections from the FHIR Standard
DiagnosticReport.code	preferred	Pattern: LOINC Code 51969-4 http://hl7.org/fhir/ValueSet/report-codes from the FHIR Standard
DiagnosticReport.conclusionCode	example	SNOMEDCTClinicalFindings http://hl7.org/fhir/ValueSet/clinical-findings from the FHIR Standard

Constraints

Id	Grade	Path(s)	Details	Requirements
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:

• GDX Patient (http://mitre.org/gdx/StructureDefinition/gdx-patient)
• GDX Variant (http://mitre.org/gdx/StructureDefinition/GdxVariant)

Maturity: 1

Differential View

This structure is derived from GenomicReport

Name	Flags	Card.	Type	Description & Constraints
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
code	S	1..1	CodeableConcept	Name/Code for this diagnostic report
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
Documentation for this format

Key Elements View

Name	Flags	Card.	Type	Description & Constraints
DiagnosticReport		0..*	GenomicReport	A Diagnostic report - a combination of request information, atomic results, images, interpretation, as well as formatted reports dom-2: If the resource is contained in another resource, it SHALL NOT contain nested Resources dom-3: 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 dom-4: If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated dom-5: If a resource is contained in another resource, it SHALL NOT have a security label dom-6: A resource should have narrative for robust management
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created ele-1: All FHIR elements must have a @value or children
Slices for extension				Content/Rules for all slices
recommended-action		0..*	Reference(Medication Recommendation | Followup Recommendation)	Recommended Action URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
genomic-risk-assessment		0..*	Reference(RiskAssessment)	Genomic Risk Assessment URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
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 ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
supporting-info		0..*	Reference(Resource)	Other information that may be relevant to this event. URL: http://hl7.org/fhir/StructureDefinition/workflow-supportingInfo ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
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 ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
hla-genotyping-results-allele-database		0..1	CodeableConcept	Allele Database URL: http://hl7.org/fhir/StructureDefinition/hla-genotyping-results-allele-database ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
hla-genotyping-results-glstring		0..1	(Complex)	glstring URL: http://hl7.org/fhir/StructureDefinition/hla-genotyping-results-glstring ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
workflow-relatedArtifact		0..*	RelatedArtifact	Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
modifierExtension	?!	0..*	Extension	Extensions that cannot be ignored ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
basedOn	S	0..*	Reference(CarePlan | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest)	What was requested ele-1: All FHIR elements must have a @value or children
status	?!SΣ	1..1	code	registered | partial | preliminary | final + Binding: DiagnosticReportStatus (required): The status of the diagnostic report. ele-1: All FHIR elements must have a @value or children
Slices for category	SΣ	1..*	CodeableConcept	Service category Slice: Unordered, Open by pattern:coding Binding: DiagnosticServiceSectionCodes (example): Codes for diagnostic service sections. ele-1: All FHIR elements must have a @value or children
category:Genetics	Σ	1..1	CodeableConcept	Service category Binding: DiagnosticServiceSectionCodes (example): Codes for diagnostic service sections. ele-1: All FHIR elements must have a @value or children
coding	Σ	1..1	Coding	Code defined by a terminology system ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following
system		1..1	uri	Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/v2-0074
code		1..1	code	Symbol in syntax defined by the system Fixed Value: GE
code	SΣ	1..1	CodeableConcept	Name/Code for this diagnostic report Binding: LOINCDiagnosticReportCodes (preferred): Codes that describe Diagnostic Reports. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 51969-4
subject	SΣ	0..1	Reference(GDX Patient)	The subject of the report - usually, but not always, the patient ele-1: All FHIR elements must have a @value or children
effective[x]	SΣ	0..1	dateTime	Clinically relevant time/time-period for report ele-1: All FHIR elements must have a @value or children
issued	SΣ	0..1	instant	DateTime this version was made ele-1: All FHIR elements must have a @value or children
performer	SΣ	0..*	Reference(Practitioner | PractitionerRole | Organization | CareTeam)	Responsible Diagnostic Service ele-1: All FHIR elements must have a @value or children
specimen	S	0..*	Reference(Specimen)	Specimens this report is based on ele-1: All FHIR elements must have a @value or children
Slices for result	S	0..*	Reference(Observation)	Observations Slice: Unordered, Open by profile:resolve() ele-1: All FHIR elements must have a @value or children
result:overall		0..1	Reference(Overall Interpretation)	Assessment of overall results ele-1: All FHIR elements must have a @value or children
result:diagnostic-implication		0..*	Reference(Diagnostic Implication)	Diagnostic Implication ele-1: All FHIR elements must have a @value or children
result:therapeutic-implication		0..*	Reference(Therapeutic Implication)	Therapeutic Implication ele-1: All FHIR elements must have a @value or children
result:molecular-consequence		0..*	Reference(Molecular Consequence)	Molecular Consequence ele-1: All FHIR elements must have a @value or children
result:variant		0..*	Reference(GDX Variant)	Variant ele-1: All FHIR elements must have a @value or children
result:sequence-phase-relation		0..*	Reference(Sequence Phase Relationship)	Sequence Phase Relationship ele-1: All FHIR elements must have a @value or children
result:genotype		0..*	Reference(Genotype)	Genotype ele-1: All FHIR elements must have a @value or children
result:haplotype		0..*	Reference(Haplotype)	Haplotype ele-1: All FHIR elements must have a @value or children
result:biomarker		0..*	Reference(Molecular Biomarker)	MolecularBiomarker ele-1: All FHIR elements must have a @value or children
conclusion	S	0..1	string	Clinical conclusion (interpretation) of test results ele-1: All FHIR elements must have a @value or children
conclusionCode	S	0..*	CodeableConcept	Codes for the clinical conclusion of test results Binding: SNOMEDCTClinicalFindings (example): Diagnosis codes provided as adjuncts to the report. ele-1: All FHIR elements must have a @value or children
Documentation for this format

Terminology Bindings

Path	Conformance	ValueSet / Code	URI
DiagnosticReport.status	required	DiagnosticReportStatus http://hl7.org/fhir/ValueSet/diagnostic-report-status|4.0.1 from the FHIR Standard
DiagnosticReport.category	example	DiagnosticServiceSectionCodes http://hl7.org/fhir/ValueSet/diagnostic-service-sections from the FHIR Standard
DiagnosticReport.category:Genetics	example	DiagnosticServiceSectionCodes http://hl7.org/fhir/ValueSet/diagnostic-service-sections from the FHIR Standard
DiagnosticReport.code	preferred	Pattern: LOINC Code 51969-4 http://hl7.org/fhir/ValueSet/report-codes from the FHIR Standard
DiagnosticReport.conclusionCode	example	SNOMEDCTClinicalFindings http://hl7.org/fhir/ValueSet/clinical-findings from the FHIR Standard

Constraints

Id	Grade	Path(s)	Details	Requirements
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()

Snapshot View

Name	Flags	Card.	Type	Description & Constraints
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
language		0..1	code	Language of the resource content Binding: CommonLanguages (preferred): A human language. Additional Bindings Purpose AllLanguages Max Binding
text		0..1	Narrative	Text summary of the resource, for human interpretation
contained		0..*	Resource	Contained, inline Resources
Slices for extension		0..*	Extension	Extension Slice: Unordered, Open by value:url
recommended-action		0..*	Reference(Medication Recommendation | Followup Recommendation)	Recommended Action URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action
genomic-risk-assessment		0..*	Reference(RiskAssessment)	Genomic Risk Assessment URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment
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
supporting-info		0..*	Reference(Resource)	Other information that may be relevant to this event. URL: http://hl7.org/fhir/StructureDefinition/workflow-supportingInfo
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
hla-genotyping-results-allele-database		0..1	CodeableConcept	Allele Database URL: http://hl7.org/fhir/StructureDefinition/hla-genotyping-results-allele-database
hla-genotyping-results-glstring		0..1	(Complex)	glstring URL: http://hl7.org/fhir/StructureDefinition/hla-genotyping-results-glstring
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
Documentation for this format

Terminology Bindings

Path	Conformance	ValueSet / Code	URI
DiagnosticReport.language	preferred	CommonLanguages http://hl7.org/fhir/ValueSet/languages from the FHIR Standard Additional Bindings Purpose AllLanguages Max Binding
DiagnosticReport.status	required	DiagnosticReportStatus http://hl7.org/fhir/ValueSet/diagnostic-report-status|4.0.1 from the FHIR Standard
DiagnosticReport.category	example	DiagnosticServiceSectionCodes http://hl7.org/fhir/ValueSet/diagnostic-service-sections from the FHIR Standard
DiagnosticReport.category:Genetics	example	DiagnosticServiceSectionCodes http://hl7.org/fhir/ValueSet/diagnostic-service-sections from the FHIR Standard
DiagnosticReport.code	preferred	Pattern: LOINC Code 51969-4 http://hl7.org/fhir/ValueSet/report-codes from the FHIR Standard
DiagnosticReport.conclusionCode	example	SNOMEDCTClinicalFindings http://hl7.org/fhir/ValueSet/clinical-findings from the FHIR Standard

Constraints

Id	Grade	Path(s)	Details	Requirements
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:

• GDX Patient (http://mitre.org/gdx/StructureDefinition/gdx-patient)
• GDX Variant (http://mitre.org/gdx/StructureDefinition/GdxVariant)

Maturity: 1

Other representations of profile: CSV, Excel, Schematron