Genomics Reporting Implementation Guide
4.0.0-ballot - STU 4 ballot
Genomics Reporting Implementation Guide
4.0.0-ballot - STU 4 ballot
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-ballot 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-output | Version: 4.0.0-ballot | |||
| Standards status: Trial-use | Maturity Level: 1 | Computable Name: GenomicStudyAnalysisOutput | ||
Genomic Study Analysis Output
Context of Use
This extension may be used on the following element(s):
Usage info
Usages:
You can also check for usages in the FHIR IG Statistics
Description of Profiles, Differentials, Snapshots, and how the XML and JSON presentations work.
This structure is derived from Extension
| Name | Flags | Card. | Type | Description & Constraints Filter:   |
|---|---|---|---|---|
  Extension |
0..* | Extension | Genomic Study Analysis Output | |
  Slices for extension |
Content/Rules for all slices | |||
   extension:file |
0..1 | Extension | GenomicStudy.analysis.output.file | |
   extension |
0..0 | |||
| url |
1..1 | uri | "file" | |
  value[x] |
0..1 | Reference(Genomic Data File) | Value of extension | |
 extension:type |
0..1 | Extension | GenomicStudy.analysis.output.type | |
 extension |
0..0 | |||
| url |
1..1 | uri | "type" | |
 value[x] |
0..1 | CodeableConcept | bam | bed | vcf | ... (many) Binding: Genomic Study Data Format ValueSet (preferred) | |
 url |
1..1 | uri | "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-output" | |
 value[x] |
0..0 | |||
| Documentation for this format | ||||
| Name | Flags | Card. | Type | Description & Constraints Filter: |
|---|---|---|---|---|
| Extension |
0..* | Extension | Genomic Study Analysis Output | |
 id |
0..1 | string | Unique id for inter-element referencing | |
| Slices for extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| extension:file |
0..1 | Extension | GenomicStudy.analysis.output.file | |
| id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..0 | |||
| url |
1..1 | uri | "file" | |
| value[x] |
0..1 | Reference(Genomic Data File) | Value of extension | |
| extension:type |
0..1 | Extension | GenomicStudy.analysis.output.type | |
| id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..0 | |||
| url |
1..1 | uri | "type" | |
| value[x] |
0..1 | CodeableConcept | bam | bed | vcf | ... (many) Binding: Genomic Study Data Format ValueSet (preferred) | |
| url |
1..1 | uri | "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-output" | |
| Documentation for this format | ||||
This structure is derived from Extension
Summary
Complex Extension: Genomic Study Analysis Output
Maturity: 1
Differential View
This structure is derived from Extension
| Name | Flags | Card. | Type | Description & Constraints Filter: |
|---|---|---|---|---|
| Extension |
0..* | Extension | Genomic Study Analysis Output | |
| Slices for extension |
Content/Rules for all slices | |||
| extension:file |
0..1 | Extension | GenomicStudy.analysis.output.file | |
| extension |
0..0 | |||
| url |
1..1 | uri | "file" | |
| value[x] |
0..1 | Reference(Genomic Data File) | Value of extension | |
| extension:type |
0..1 | Extension | GenomicStudy.analysis.output.type | |
| extension |
0..0 | |||
| url |
1..1 | uri | "type" | |
| value[x] |
0..1 | CodeableConcept | bam | bed | vcf | ... (many) Binding: Genomic Study Data Format ValueSet (preferred) | |
| url |
1..1 | uri | "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-output" | |
| value[x] |
0..0 | |||
| Documentation for this format | ||||
Snapshot View
| Name | Flags | Card. | Type | Description & Constraints Filter: |
|---|---|---|---|---|
| Extension |
0..* | Extension | Genomic Study Analysis Output | |
| id |
0..1 | string | Unique id for inter-element referencing | |
| Slices for extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| extension:file |
0..1 | Extension | GenomicStudy.analysis.output.file | |
| id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..0 | |||
| url |
1..1 | uri | "file" | |
| value[x] |
0..1 | Reference(Genomic Data File) | Value of extension | |
| extension:type |
0..1 | Extension | GenomicStudy.analysis.output.type | |
| id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..0 | |||
| url |
1..1 | uri | "type" | |
| value[x] |
0..1 | CodeableConcept | bam | bed | vcf | ... (many) Binding: Genomic Study Data Format ValueSet (preferred) | |
| url |
1..1 | uri | "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-output" | |
| Documentation for this format | ||||
Other representations of profile: CSV, Excel, Schematron
| Path | Conformance | ValueSet | URI |
| Extension.extension:type.value[x] | preferred | GenomicStudyDataFormatVS(a valid code from Genomic Study Data Format CodeSystem)http://hl7.org/fhir/uv/genomics-reporting/ValueSet/genomic-study-data-format-vsFrom this IG |
| Id | Grade | Path(s) | Details | Requirements |
| 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() |
IG © 2022+ HL7 International / Clinical Genomics. Package hl7.fhir.uv.genomics-reporting#4.0.0-ballot based on FHIR 4.0.1. Generated 2025-09-17
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