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

• Content
• Detailed Descriptions
• Mappings
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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:

• Use this Extension: Genomics Report
• Examples for this Extension: DiagnosticReport/PGxGenomicsReportEMERGE-withGrouping, DiagnosticReport/PGxGenomicsReportEMERGE

Formal Views of Extension Content

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

 

Other representations of profile: CSV, Excel, Schematron

Constraints

Id	Grade	Path	Details	Requirements
ele-1	error	Extension	All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count())
ext-1	error	Extension	Must have either extensions or value[x], not both : extension.exists() != value.exists()
ele-1	error	Extension.value[x]	All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count())