FHIR Extensions Pack
5.3.0-ballot - (September 2025 Ballot) International flag

This page is part of the FHIR Core Extensions Registry (v5.3.0-ballot: Release 5.3) based on FHIR (HL7® FHIR® Standard) v5.0.0. This version is a pre-release. The current official version is 5.2.0. For a full list of available versions, see the Directory of published versions

Extension: Gene

Official URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsGene Version: 5.3.0-ballot
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This extension has been replaced by the profiles and extensions defined in the Genomics Reporting Guide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 unchanged in R4B

    R4

    The extension is unchanged in R4

    R3

    The extension is unchanged in R3

    Search Parameters for this Extension

    (none found)