FHIR General Extensions IG
0.1.0 - Working Copy International flag

This page is part of the FHIR Core Extensions Registry (v0.1.0: Releases Draft) based on FHIR v5.0.0. . For a full list of available versions, see the Directory of published versions

Extension: Observation Secondary Finding

Official URL: http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding Version: 0.1.0
Standards status: Trial-use Maturity Level: 1 Computable Name: Obs SecondaryFinding
Other Identifiers: id: urn:oid:2.16.840.1.113883.4.642.5.1474

Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when Whole Exome Sequencing (WES) or Whole Genome Sequencing (WGS) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement.

For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings.

Context of Use

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

  • Element ID Observation

Usage info

Usage:

  • This Extension is not used by any profiles in this Implementation Guide

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

Mandatory: 1 element
Fixed Value: 1 element
Prohibited: 1 element

Maturity: 1

This structure is derived from Extension

NameFlagsCard.TypeDescription & Constraintsdoco
.. Extension 0..1ExtensionSecondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement. For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings
... extension 0..0
... url 1..1uri"http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding"
... value[x] 1..1CodeableConceptValue of extension
Binding: GeneticObservationSecondaryFindings (extensible): Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding.


doco Documentation for this format
NameFlagsCard.TypeDescription & Constraintsdoco
.. Extension 0..1ExtensionSecondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement. For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings
... id 0..1idUnique id for inter-element referencing
... extension 0..0
... url 1..1uri"http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding"

doco Documentation for this format

This structure is derived from Extension

Summary

Mandatory: 1 element
Fixed Value: 1 element
Prohibited: 1 element

Maturity: 1

Differential View

This structure is derived from Extension

NameFlagsCard.TypeDescription & Constraintsdoco
.. Extension 0..1ExtensionSecondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement. For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings
... extension 0..0
... url 1..1uri"http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding"
... value[x] 1..1CodeableConceptValue of extension
Binding: GeneticObservationSecondaryFindings (extensible): Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding.


doco Documentation for this format

Snapshot View

NameFlagsCard.TypeDescription & Constraintsdoco
.. Extension 0..1ExtensionSecondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement. For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings
... id 0..1idUnique id for inter-element referencing
... extension 0..0
... url 1..1uri"http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding"

doco Documentation for this format

 

Other representations of profile: CSV, Excel, Schematron

Terminology Bindings

PathConformanceValueSet
Extension.value[x]extensibleGeneticObservationSecondaryFindings (a valid code from Genetic Observation Secondary Findings)

Constraints

IdGradePath(s)DetailsRequirements
ele-1error**ALL** elementsAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())

Search Parameters for this Extension

(none found)

;