FHIR Extensions Pack
5.2.0-ballot - 5.2.0 Ballot - September 2024) International flag

FHIR Extensions Pack, published by HL7 International / FHIR Infrastructure. This guide is not an authorized publication; it is the continuous build for version 5.2.0-ballot built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/fhir-extensions/ and changes regularly. See the Directory of published versions

Extension: Observation Secondary Finding

Official URL: http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding Version: 5.2.0-ballot
Standards status: Trial-use Maturity Level: 3 Responsible: HL7 International / Orders and Observations Computable Name: ObsSecondaryFinding
Other Identifiers: 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

Changes since version 1.0.0:

  • The resource metadata has changed (publisher)

    • 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

    Simple Extension of type CodeableConcept: 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.

    Maturity: 3

    This structure is derived from Extension

    NameFlagsCard.TypeDescription & Constraintsdoco
    .. Extension 0..1 Extension 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)](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..1 uri "http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding"
    ... value[x] 1..1 CodeableConcept Value 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..1 Extension 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)](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..1 id Unique id for inter-element referencing
    ... extension 0..0
    ... url 1..1 uri "http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding"

    doco Documentation for this format

    This structure is derived from Extension

    Summary

    Simple Extension of type CodeableConcept: 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.

    Maturity: 3

    Differential View

    This structure is derived from Extension

    NameFlagsCard.TypeDescription & Constraintsdoco
    .. Extension 0..1 Extension 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)](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..1 uri "http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding"
    ... value[x] 1..1 CodeableConcept Value 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..1 Extension 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)](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..1 id Unique id for inter-element referencing
    ... extension 0..0
    ... url 1..1 uri "http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding"

    doco Documentation for this format

     

    Other representations of profile: CSV, Excel, Schematron

    Terminology Bindings

    PathConformanceValueSetURI
    Extension.value[x]extensibleGeneticObservationSecondaryFindings (a valid code from Genetic Observation Secondary Findings Code System)
    http://hl7.org/fhir/ValueSet/secondary-finding
    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()

    Search Parameters for this Extension

    (none found)