Genomics Reporting Implementation Guide
3.0.0 - release International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 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

Extension: Genomic Study Analysis Input

Official URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-input Version: 3.0.0
Active as of 2024-11-19 Computable Name: GenomicStudyAnalysisInput

Genomic Study Analysis Input

Context of Use

This extension may be used on the following element(s):

  • Element ID Procedure

Usage info

Usage:

Formal Views of Extension Content

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

This structure is derived from Extension

Summary

Complex Extension: Genomic Study Analysis Input

  • file: Reference: An Extension
  • type: CodeableConcept: An Extension
  • generatedBy: Identifier, Reference: An Extension

This structure is derived from Extension

NameFlagsCard.TypeDescription & Constraintsdoco
.. Extension 0..* Extension Genomic Study Analysis Input
... Slices for extension Content/Rules for all slices
.... extension:file 0..1 Extension GenomicStudy.analysis.input.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.input.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)
.... extension:generatedBy 0..1 Extension GenomicStudy.analysis.input.generatedBy
..... extension 0..0
..... url 1..1 uri "generatedBy"
..... value[x] 0..1 Value of extension
...... valueIdentifier Identifier
...... valueReference Reference(Genomic Study)
... url 1..1 uri "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-input"
... value[x] 0..0

doco Documentation for this format
NameFlagsCard.TypeDescription & Constraintsdoco
.. Extension 0..* Extension Genomic Study Analysis Input
... 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.input.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.input.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)
.... extension:generatedBy 0..1 Extension GenomicStudy.analysis.input.generatedBy
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..0
..... url 1..1 uri "generatedBy"
..... value[x] 0..1 Value of extension
...... valueIdentifier Identifier
...... valueReference Reference(Genomic Study)
... url 1..1 uri "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-input"

doco Documentation for this format

This structure is derived from Extension

Summary

Complex Extension: Genomic Study Analysis Input

  • file: Reference: An Extension
  • type: CodeableConcept: An Extension
  • generatedBy: Identifier, Reference: An Extension

Differential View

This structure is derived from Extension

NameFlagsCard.TypeDescription & Constraintsdoco
.. Extension 0..* Extension Genomic Study Analysis Input
... Slices for extension Content/Rules for all slices
.... extension:file 0..1 Extension GenomicStudy.analysis.input.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.input.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)
.... extension:generatedBy 0..1 Extension GenomicStudy.analysis.input.generatedBy
..... extension 0..0
..... url 1..1 uri "generatedBy"
..... value[x] 0..1 Value of extension
...... valueIdentifier Identifier
...... valueReference Reference(Genomic Study)
... url 1..1 uri "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-input"
... value[x] 0..0

doco Documentation for this format

Snapshot View

NameFlagsCard.TypeDescription & Constraintsdoco
.. Extension 0..* Extension Genomic Study Analysis Input
... 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.input.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.input.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)
.... extension:generatedBy 0..1 Extension GenomicStudy.analysis.input.generatedBy
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..0
..... url 1..1 uri "generatedBy"
..... value[x] 0..1 Value of extension
...... valueIdentifier Identifier
...... valueReference Reference(Genomic Study)
... url 1..1 uri "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-input"

doco Documentation for this format

 

Other representations of profile: CSV, Excel, Schematron

Terminology Bindings

PathConformanceValueSetURI
Extension.extension:type.value[x]preferredGenomicStudyDataFormatVS (a valid code from Genomic Study Data Format CodeSystem)
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/genomic-study-data-format-vs
from this IG

Constraints

IdGradePath(s)DetailsRequirements
ele-1error**ALL** elementsAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1error**ALL** extensionsMust have either extensions or value[x], not both
: extension.exists() != value.exists()