Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build
Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build
Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions
| Official URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis | Version: 4.0.0-cibuild | |||
| Standards status: Trial-use | Maturity Level: 2 | Computable Name: GenomicStudyAnalysis | ||
A genomic study analysis is a component of a genomic study.
STU Note: This profile is only to be used as referenced by a genomic study instance. A Genomic Study Analysis makes no sense outside the context of a Genomic Study). Please refer to the Genomic Study profile for a description of genomic study and genomic study analysis."
Usages:
You can also check for usages in the FHIR IG Statistics
Description of Profiles, Differentials, Snapshots and how the different presentations work.
| Path | Status | Usage | ValueSet | Version | Source |
| Procedure.status | Base | required | EventStatus | 📍4.0.1 | FHIR Std. |
| Procedure.category | Base | example | Procedure Category Codes (SNOMED CT) | 📍4.0.1 | FHIR Std. |
| Id | Grade | Path(s) | Description | Expression |
| dom-2 | error | Procedure | If the resource is contained in another resource, it SHALL NOT contain nested Resources |
contained.contained.empty()
|
| dom-3 | error | Procedure | 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 | Procedure | 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 | Procedure | If a resource is contained in another resource, it SHALL NOT have a security label |
contained.meta.security.empty()
|
| dom-6 | best practice | Procedure | 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 Procedure
| Name | Flags | Card. | Type | Description & Constraints Filter:  | ||||
|---|---|---|---|---|---|---|---|---|
  Procedure |
0..* | Procedure | An action that is being or was performed on a patient | |||||
  id |
0..1 | id | Logical id of this artifact | |||||
 meta |
0..1 | Meta | Metadata about the resource | |||||
| implicitRules |
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:method-type |
0..* | CodeableConcept | GenomicStudy.analysis.methodType URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type Binding: Genomic Study Method Type ValueSet (preferred) | |||||
| extension:change-type |
0..* | CodeableConcept | GenomicStudy.analysis.changeType URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-change-type Binding: Genomic Study Change Type ValueSet (preferred) | |||||
| extension:genome-build |
0..1 | CodeableConcept | GenomicStudy.analysis.genomeBuild URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genome-build Binding: LOINC Answer List LL1040-6 (extensible) | |||||
| extension:genomic-source-class |
0..1 | CodeableConcept | GenomicStudy.analysis.genomicSourceClass URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class Binding: LOINC Answer List LL378-1 (extensible) | |||||
| extension:title |
0..1 | string | GenomicStudy.analysis.title URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-title | |||||
| extension:focus |
0..* | Reference(Resource) | GenomicStudy.analysis.focus URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-focus | |||||
| extension:specimen |
0..* | Reference(Specimen) | GenomicStudy.analysis.specimen URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-specimen | |||||
| extension:metrics |
0..1 | (Complex) | Genomic Study Analysis Metrics URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-metrics | |||||
| extension:regions |
0..1 | (Complex) | Genomic Study Analysis Regions URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions | |||||
| extension:device |
0..* | (Complex) | GenomicStudy.analysis.device URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device | |||||
| extension:protocol-performed |
0..1 | Reference(Procedure | Task) | GenomicStudy.protocolPerformed URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-protocol-performed | |||||
| extension:input |
0..* | (Complex) | GenomicStudy.analysis.input URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-input | |||||
 extension:output |
0..* | (Complex) | GenomicStudy.analysis.output URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-output | |||||
 modifierExtension |
0..* | Extension | Extensions that cannot be ignored | |||||
| identifier |
0..* | Identifier | GenomicStudy.analysis.identifier | |||||
| instantiatesCanonical |
0..* | canonical(PlanDefinition | ActivityDefinition) | GenomicStudy.analysis.instantiatesCanonical | |||||
| instantiatesUri |
0..* | uri | GenomicStudy.analysis.instantiatesUri | |||||
| status |
1..1 | code | preparation | in-progress | not-done | on-hold | stopped | completed | entered-in-error | unknown Binding: EventStatus (required): A code specifying the state of the procedure. Required Pattern: completed (extensions allowed) | |||||
| category |
1..1 | CodeableConcept | Classification of the procedure Binding: ProcedureCategoryCodes(SNOMEDCT) (example): A code that classifies a procedure for searching, sorting and display purposes. | |||||
| 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 |
1..1 | Coding | Code defined by a terminology system Required Pattern: | |||||
 text |
0..1 | string | Plain text representation of the concept | |||||
 subject |
1..1 | Reference(Patient | Group) | Who the procedure was performed on | |||||
| performed[x] |
0..1 | dateTime | GenomicStudy.analysis.date | |||||
| performer |
0..* | BackboneElement | The people who performed the procedure | |||||
| id |
0..1 | string | Unique id for inter-element referencing | |||||
| extension |
0..* | Extension | Additional content defined by implementations | |||||
| modifierExtension |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |||||
| function |
0..1 | CodeableConcept | GenomicStudy.analysis.performer.role Binding: ProcedurePerformerRoleCodes (example): A code that identifies the role of a performer of the procedure. | |||||
| actor |
1..1 | Reference(Practitioner | PractitionerRole | Organization | Device) | GenomicStudy.analysis.performer.actor | |||||
| onBehalfOf |
0..1 | Reference(Organization) | Organization the device or practitioner was acting for | |||||
| note |
0..* | Annotation | GenomicStudy.analysis.note | |||||
| Documentation for this format | ||||||||
| Path | Status | Usage | ValueSet | Version | Source |
| Procedure.language | Base | preferred | Common Languages | 📍4.0.1 | FHIR Std. |
| Procedure.status | Base | required | EventStatus | 📍4.0.1 | FHIR Std. |
| Procedure.category | Base | example | Procedure Category Codes (SNOMED CT) | 📍4.0.1 | FHIR Std. |
| Procedure.performer.function | Base | example | Procedure Performer Role Codes | 📍4.0.1 | FHIR Std. |
| Procedure.focalDevice.action | Base | preferred | Procedure Device Action Codes | 📍4.0.1 | FHIR Std. |
| Id | Grade | Path(s) | Description | Expression |
| dom-2 | error | Procedure | If the resource is contained in another resource, it SHALL NOT contain nested Resources |
contained.contained.empty()
|
| dom-3 | error | Procedure | 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 | Procedure | 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 | Procedure | If a resource is contained in another resource, it SHALL NOT have a security label |
contained.meta.security.empty()
|
| dom-6 | best practice | Procedure | 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 Procedure
Summary
Mandatory: 2 elements
Prohibited: 19 elements
Extensions
This structure refers to these extensions:
Maturity: 2
Key Elements View
| Path | Status | Usage | ValueSet | Version | Source |
| Procedure.status | Base | required | EventStatus | 📍4.0.1 | FHIR Std. |
| Procedure.category | Base | example | Procedure Category Codes (SNOMED CT) | 📍4.0.1 | FHIR Std. |
| Id | Grade | Path(s) | Description | Expression |
| dom-2 | error | Procedure | If the resource is contained in another resource, it SHALL NOT contain nested Resources |
contained.contained.empty()
|
| dom-3 | error | Procedure | 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 | Procedure | 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 | Procedure | If a resource is contained in another resource, it SHALL NOT have a security label |
contained.meta.security.empty()
|
| dom-6 | best practice | Procedure | 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 Procedure
Snapshot View
| Name | Flags | Card. | Type | Description & Constraints Filter: | ||||
|---|---|---|---|---|---|---|---|---|
| Procedure |
0..* | Procedure | An action that is being or was performed on a patient | |||||
| id |
0..1 | id | Logical id of this artifact | |||||
| meta |
0..1 | Meta | Metadata about the resource | |||||
| implicitRules |
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:method-type |
0..* | CodeableConcept | GenomicStudy.analysis.methodType URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type Binding: Genomic Study Method Type ValueSet (preferred) | |||||
| extension:change-type |
0..* | CodeableConcept | GenomicStudy.analysis.changeType URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-change-type Binding: Genomic Study Change Type ValueSet (preferred) | |||||
| extension:genome-build |
0..1 | CodeableConcept | GenomicStudy.analysis.genomeBuild URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genome-build Binding: LOINC Answer List LL1040-6 (extensible) | |||||
| extension:genomic-source-class |
0..1 | CodeableConcept | GenomicStudy.analysis.genomicSourceClass URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class Binding: LOINC Answer List LL378-1 (extensible) | |||||
| extension:title |
0..1 | string | GenomicStudy.analysis.title URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-title | |||||
| extension:focus |
0..* | Reference(Resource) | GenomicStudy.analysis.focus URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-focus | |||||
| extension:specimen |
0..* | Reference(Specimen) | GenomicStudy.analysis.specimen URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-specimen | |||||
| extension:metrics |
0..1 | (Complex) | Genomic Study Analysis Metrics URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-metrics | |||||
| extension:regions |
0..1 | (Complex) | Genomic Study Analysis Regions URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions | |||||
| extension:device |
0..* | (Complex) | GenomicStudy.analysis.device URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device | |||||
| extension:protocol-performed |
0..1 | Reference(Procedure | Task) | GenomicStudy.protocolPerformed URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-protocol-performed | |||||
| extension:input |
0..* | (Complex) | GenomicStudy.analysis.input URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-input | |||||
| extension:output |
0..* | (Complex) | GenomicStudy.analysis.output URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-output | |||||
| modifierExtension |
0..* | Extension | Extensions that cannot be ignored | |||||
| identifier |
0..* | Identifier | GenomicStudy.analysis.identifier | |||||
| instantiatesCanonical |
0..* | canonical(PlanDefinition | ActivityDefinition) | GenomicStudy.analysis.instantiatesCanonical | |||||
| instantiatesUri |
0..* | uri | GenomicStudy.analysis.instantiatesUri | |||||
| status |
1..1 | code | preparation | in-progress | not-done | on-hold | stopped | completed | entered-in-error | unknown Binding: EventStatus (required): A code specifying the state of the procedure. Required Pattern: completed (extensions allowed) | |||||
| category |
1..1 | CodeableConcept | Classification of the procedure Binding: ProcedureCategoryCodes(SNOMEDCT) (example): A code that classifies a procedure for searching, sorting and display purposes. | |||||
| 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 |
1..1 | Coding | Code defined by a terminology system Required Pattern: | |||||
| text |
0..1 | string | Plain text representation of the concept | |||||
| subject |
1..1 | Reference(Patient | Group) | Who the procedure was performed on | |||||
| performed[x] |
0..1 | dateTime | GenomicStudy.analysis.date | |||||
| performer |
0..* | BackboneElement | The people who performed the procedure | |||||
| id |
0..1 | string | Unique id for inter-element referencing | |||||
| extension |
0..* | Extension | Additional content defined by implementations | |||||
| modifierExtension |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |||||
| function |
0..1 | CodeableConcept | GenomicStudy.analysis.performer.role Binding: ProcedurePerformerRoleCodes (example): A code that identifies the role of a performer of the procedure. | |||||
| actor |
1..1 | Reference(Practitioner | PractitionerRole | Organization | Device) | GenomicStudy.analysis.performer.actor | |||||
| onBehalfOf |
0..1 | Reference(Organization) | Organization the device or practitioner was acting for | |||||
| note |
0..* | Annotation | GenomicStudy.analysis.note | |||||
| Documentation for this format | ||||||||
| Path | Status | Usage | ValueSet | Version | Source |
| Procedure.language | Base | preferred | Common Languages | 📍4.0.1 | FHIR Std. |
| Procedure.status | Base | required | EventStatus | 📍4.0.1 | FHIR Std. |
| Procedure.category | Base | example | Procedure Category Codes (SNOMED CT) | 📍4.0.1 | FHIR Std. |
| Procedure.performer.function | Base | example | Procedure Performer Role Codes | 📍4.0.1 | FHIR Std. |
| Procedure.focalDevice.action | Base | preferred | Procedure Device Action Codes | 📍4.0.1 | FHIR Std. |
| Id | Grade | Path(s) | Description | Expression |
| dom-2 | error | Procedure | If the resource is contained in another resource, it SHALL NOT contain nested Resources |
contained.contained.empty()
|
| dom-3 | error | Procedure | 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 | Procedure | 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 | Procedure | If a resource is contained in another resource, it SHALL NOT have a security label |
contained.meta.security.empty()
|
| dom-6 | best practice | Procedure | 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 Procedure
Summary
Mandatory: 2 elements
Prohibited: 19 elements
Extensions
This structure refers to these extensions:
Maturity: 2
Other representations of profile: CSV, Excel, Schematron
IG © 2025+ HL7 International / Clinical Genomics. Package hl7.fhir.uv.genomics-reporting#4.0.0-cibuild based on FHIR 4.0.1. Generated 2026-11-02
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