Extension: Gene - FHIR v3.3.0

R4 Ballot #1 (Mixed Normative/Trial use)

This page is part of the FHIR Specification (v3.3.0: R4 Ballot 2). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions . Page versions: R4B R4 R3

Extension Gene - Detailed Descriptions

Orders and Observations Work Group

Maturity Level: 1

Informative

Use Context: Any

Detailed Descriptions for the elements in the extension.

Extension
Element Id	Extension
Definition	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).
Control	0..1 This element is affected by the following invariants: ele-1
Comments	Other systems or genes not defined in HGNC (e.g., BCR-ABL fusion gene) can be added by using a local extension.
Invariants	Defined on this element ele-1: All FHIR elements must have a @value or children (xpath: @value\|f:\|h:div) ext-1: Must have either extensions or value[x], not both (xpath: exists(f:extension)!=exists(f:[starts-with(local-name(.), 'value')]))
Extension.id
Element Id	Extension.id
Definition	Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.
Control	0..1
Type	string
Extension.extension
Element Id	Extension.extension
Definition	An Extension
Control	0..0
Type	Extension
Slicing	This element introduces a set of slices. The slicing rules are: unordered Open discriminators: value:url
Extension.url
Element Id	Extension.url
Definition	Source of the definition for the extension code - a logical name or a URL.
Control	1..1
Type	uri
Comments	The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension.
Fixed Value	http://hl7.org/fhir/StructureDefinition/observation-geneticsGene
Extension.valueCodeableConcept
Element Id	Extension.valueCodeableConcept
Definition	Value of extension - may be a resource or one of a constrained set of the data types (see Extensibility in the spec for list).
Control	0..1
Terminology Binding	International curated set of gene identifiers The codes SHOULD be taken from http://www.genenames.org
Type	CodeableConcept