FHIR Extensions Pack
5.3.0-ballot-tc1 - (September 2025 Ballot) 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 5.3.0-ballot-tc1 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: Gene

Official URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsGene Version: 5.3.0-ballot-tc1
Standards status: Deprecated Maturity Level: 1 Responsible: HL7 International / Orders and Observations Computable Name: Gene

A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions (SO:0000704). This element is the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name (HGNC). LOINC Code: (48018-6).

Context of Use

This extension is deprecated and should no longer be used

This extension has been replaced by the profiles and extensions defined in the Genomics Reporting Guide

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

Usage info

Usages:

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

You can also check for usages in the FHIR IG Statistics

Changes since version 5.2.0:

  • No changes

    • 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 with the type CodeableConcept: A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions (SO:0000704). This element is the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name (HGNC). LOINC Code: (48018-6).

    Maturity: 1

    This structure is derived from Extension

    NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
    .. Extension 0..1 Extension HGNC gene symbol
    ... extension 0..0
    ... url 1..1 uri "http://hl7.org/fhir/StructureDefinition/observation-geneticsGene"
    ... value[x] 1..1 CodeableConcept Value of extension
    Binding Description: (example): International curated set of gene identifiers.

    doco Documentation for this format
    NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
    .. Extension 0..1 Extension HGNC gene symbol
    ... id 0..1 id Unique id for inter-element referencing
    ... extension 0..0
    ... url 1..1 uri "http://hl7.org/fhir/StructureDefinition/observation-geneticsGene"

    doco Documentation for this format

    This structure is derived from Extension

    Summary

    Simple Extension with the type CodeableConcept: A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions (SO:0000704). This element is the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name (HGNC). LOINC Code: (48018-6).

    Maturity: 1

    Differential View

    This structure is derived from Extension

    NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
    .. Extension 0..1 Extension HGNC gene symbol
    ... extension 0..0
    ... url 1..1 uri "http://hl7.org/fhir/StructureDefinition/observation-geneticsGene"
    ... value[x] 1..1 CodeableConcept Value of extension
    Binding Description: (example): International curated set of gene identifiers.

    doco Documentation for this format

    Snapshot View

    NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
    .. Extension 0..1 Extension HGNC gene symbol
    ... id 0..1 id Unique id for inter-element referencing
    ... extension 0..0
    ... url 1..1 uri "http://hl7.org/fhir/StructureDefinition/observation-geneticsGene"

    doco Documentation for this format

     

    Other representations of profile: CSV, Excel, Schematron

    Terminology Bindings

    PathConformanceValueSetURI
    Extension.value[x]example

    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()

    R4B

    The extension is not used in R4B

    • Duplicate Resource http://hl7.org/fhir/StructureDefinition/observation-geneticsGene of type StructureDefinition (existing version 4.3.0, new version 5.3.0-ballot-tc1)

    R4

    The extension is not used in R4

    • Duplicate Resource http://hl7.org/fhir/StructureDefinition/observation-geneticsGene of type StructureDefinition (existing version 4.0.1, new version 5.3.0-ballot-tc1)

    R3

    The extension is not used in R3

    • Duplicate Resource http://hl7.org/fhir/StructureDefinition/observation-geneticsGene of type StructureDefinition (existing version null, new version 5.3.0-ballot-tc1)

    Search Parameters for this Extension

    (none found)