Genomics Reporting Implementation Guide
2.0.0 - trial-use

This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

Extension: Genomics File

Used to transmit the contents of or links to files that were produced as part of the testing process. Examples are VCF, BAM, CRAM, and other similar files.

The official URL for this extension is:

http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-file

Status: active
Extension maintained by: HL7 Clinical Genomics Working Group

Context of Use

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

  • DiagnosticReport

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

Fixed Value: 1 element
Prohibited: 1 element

Structures

This structure refers to these other structures:

This structure is derived from Extension

NameFlagsCard.TypeDescription & Constraintsdoco
.. Extension 0..*ExtensionGenomics File
... extension 0..0
... url 1..1uri"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-file"
... value[x] 0..1Reference(Genomics DocumentReference)Value of extension

doco Documentation for this format
NameFlagsCard.TypeDescription & Constraintsdoco
.. Extension 0..*ExtensionGenomics File
... id 0..1stringUnique id for inter-element referencing
... Slices for extension 0..0
... url 1..1uri"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-file"

doco Documentation for this format

This structure is derived from Extension

Summary

Fixed Value: 1 element
Prohibited: 1 element

Structures

This structure refers to these other structures:

Differential View

This structure is derived from Extension

NameFlagsCard.TypeDescription & Constraintsdoco
.. Extension 0..*ExtensionGenomics File
... extension 0..0
... url 1..1uri"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-file"
... value[x] 0..1Reference(Genomics DocumentReference)Value of extension

doco Documentation for this format

Snapshot View

NameFlagsCard.TypeDescription & Constraintsdoco
.. Extension 0..*ExtensionGenomics File
... id 0..1stringUnique id for inter-element referencing
... Slices for extension 0..0
... url 1..1uri"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-file"

doco Documentation for this format

 

Other representations of profile: CSV, Excel, Schematron

Constraints

IdGradePathDetailsRequirements
ele-1errorExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorExtension.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())