R4 Ballot #2 (Mixed Normative/Trial use)

This page is part of the FHIR Specification (v3.5.0: 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: 1InformativeUse Context: Any

Detailed Descriptions for the elements in the extension.

Extension
Element IdExtension
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).

Control0..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
Inherited by this element
ele-1RuleAll FHIR elements must have a @value or childrenhasValue() or (children().count() > id.count())
ext-1RuleMust have either extensions or value[x], not bothextension.exists() != value.exists()
Extension.id
Element IdExtension.id
Definition

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

Control0..1
Typestring
Extension.extension
Element IdExtension.extension
Definition

An Extension

Control0..0
TypeExtension
SlicingThis element introduces a set of slices. The slicing rules are:
  • unordered
  • Open
  • discriminators: value:url
Extension.url
Element IdExtension.url
Definition

Source of the definition for the extension code - a logical name or a URL.

Control1..1
Typeuri
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 Valuehttp://hl7.org/fhir/StructureDefinition/observation-geneticsGene
Extension.valueCodeableConcept
Element IdExtension.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).

Control0..1
Terminology BindingInternational curated set of gene identifiers.
The codes SHOULD be taken from H g n c
TypeCodeableConcept