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 2025-08-12 | 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.
| Name | Flags | Card. | Type | Description & Constraints Filter:   |
|---|---|---|---|---|
  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 |
 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. |
   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. |
| Documentation for this format | ||||
Terminology Bindings
| Path | Conformance | ValueSet / Code | URI |
| DiagnosticReport.status | required | DiagnosticReportStatushttp://hl7.org/fhir/ValueSet/diagnostic-report-status|4.0.1From the FHIR Standard | |
| DiagnosticReport.category | example | DiagnosticServiceSectionCodeshttp://hl7.org/fhir/ValueSet/diagnostic-service-sectionsFrom the FHIR Standard | |
| DiagnosticReport.category:Genetics | example | DiagnosticServiceSectionCodeshttp://hl7.org/fhir/ValueSet/diagnostic-service-sectionsFrom the FHIR Standard | |
| DiagnosticReport.code | preferred | Pattern Value: LOINC Code 51969-4http://hl7.org/fhir/ValueSet/report-codesFrom the FHIR Standard | |
| DiagnosticReport.conclusionCode | example | SNOMEDCTClinicalFindingshttp://hl7.org/fhir/ValueSet/clinical-findingsFrom 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
| Name | Flags | Card. | Type | Description & Constraints Filter: |
|---|---|---|---|---|
| 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 Filter: | ||||
|---|---|---|---|---|---|---|---|---|
| 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.
| |||||
| 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 | |||||
| Documentation for this format | ||||||||
Terminology Bindings
| Path | Conformance | ValueSet / Code | URI | |||
| DiagnosticReport.language | preferred | CommonLanguageshttp://hl7.org/fhir/ValueSet/languagesFrom the FHIR Standard
| ||||
| DiagnosticReport.status | required | DiagnosticReportStatushttp://hl7.org/fhir/ValueSet/diagnostic-report-status|4.0.1From the FHIR Standard | ||||
| DiagnosticReport.category | example | DiagnosticServiceSectionCodeshttp://hl7.org/fhir/ValueSet/diagnostic-service-sectionsFrom the FHIR Standard | ||||
| DiagnosticReport.category:Genetics | example | DiagnosticServiceSectionCodeshttp://hl7.org/fhir/ValueSet/diagnostic-service-sectionsFrom the FHIR Standard | ||||
| DiagnosticReport.code | preferred | Pattern Value: LOINC Code 51969-4http://hl7.org/fhir/ValueSet/report-codesFrom the FHIR Standard | ||||
| DiagnosticReport.conclusionCode | example | SNOMEDCTClinicalFindingshttp://hl7.org/fhir/ValueSet/clinical-findingsFrom 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
Key Elements View
| Name | Flags | Card. | Type | Description & Constraints Filter: |
|---|---|---|---|---|
| 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 |
| 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. |
| 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. |
| Documentation for this format | ||||
Terminology Bindings
| Path | Conformance | ValueSet / Code | URI |
| DiagnosticReport.status | required | DiagnosticReportStatushttp://hl7.org/fhir/ValueSet/diagnostic-report-status|4.0.1From the FHIR Standard | |
| DiagnosticReport.category | example | DiagnosticServiceSectionCodeshttp://hl7.org/fhir/ValueSet/diagnostic-service-sectionsFrom the FHIR Standard | |
| DiagnosticReport.category:Genetics | example | DiagnosticServiceSectionCodeshttp://hl7.org/fhir/ValueSet/diagnostic-service-sectionsFrom the FHIR Standard | |
| DiagnosticReport.code | preferred | Pattern Value: LOINC Code 51969-4http://hl7.org/fhir/ValueSet/report-codesFrom the FHIR Standard | |
| DiagnosticReport.conclusionCode | example | SNOMEDCTClinicalFindingshttp://hl7.org/fhir/ValueSet/clinical-findingsFrom 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() |
Differential View
This structure is derived from GenomicReport
| Name | Flags | Card. | Type | Description & Constraints Filter: |
|---|---|---|---|---|
| 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 | ||||
Snapshot View
| Name | Flags | Card. | Type | Description & Constraints Filter: | ||||
|---|---|---|---|---|---|---|---|---|
| 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.
| |||||
| 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 | |||||
| Documentation for this format | ||||||||
Terminology Bindings
| Path | Conformance | ValueSet / Code | URI | |||
| DiagnosticReport.language | preferred | CommonLanguageshttp://hl7.org/fhir/ValueSet/languagesFrom the FHIR Standard
| ||||
| DiagnosticReport.status | required | DiagnosticReportStatushttp://hl7.org/fhir/ValueSet/diagnostic-report-status|4.0.1From the FHIR Standard | ||||
| DiagnosticReport.category | example | DiagnosticServiceSectionCodeshttp://hl7.org/fhir/ValueSet/diagnostic-service-sectionsFrom the FHIR Standard | ||||
| DiagnosticReport.category:Genetics | example | DiagnosticServiceSectionCodeshttp://hl7.org/fhir/ValueSet/diagnostic-service-sectionsFrom the FHIR Standard | ||||
| DiagnosticReport.code | preferred | Pattern Value: LOINC Code 51969-4http://hl7.org/fhir/ValueSet/report-codesFrom the FHIR Standard | ||||
| DiagnosticReport.conclusionCode | example | SNOMEDCTClinicalFindingshttp://hl7.org/fhir/ValueSet/clinical-findingsFrom 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