Extension: Variant - 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

Extension Variant - 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	Variant information.
Control	0..1 This element is affected by the following invariants: ele-1
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	May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.
Control	0..*
Type	Extension
Alternate Names	extensions, user content
Comments	There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.
Slicing	This element introduces a set of slices. The slicing rules are: unordered Open discriminators: value:url
Extension.extension(Name)
Element Id	Extension.extension:name
Definition	Human Genome Variation Society (HGVS) nomenclature for a single or set of DNA Sequence Variation(s) identified in testing. The use of the nomenclature is also used to describe non-variations (aka. wild types). LOINC Code: (48004-6).
Control	0..1
Type	Extension
Extension.extension.id
Element Id	Extension.extension:name.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.extension
Element Id	Extension.extension:name.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.extension.url
Element Id	Extension.extension:name.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	Name
Extension.extension.valueCodeableConcept
Element Id	Extension.extension:name.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	NCBI central repository of potentially clinically relevant variants The codes SHOULD be taken from http://www.ncbi.nlm.nih.gov/clinvar/variation
Type	CodeableConcept
Extension.extension(Id)
Element Id	Extension.extension:id
Definition	Identifier for DNA sequence variant. If a germline variant, ClinVar or dbSNP identifier should be used. If a somatic variant, COSMIC identifier should be used, unless in ClinVar then either maybe used. Need to provide the code system used (ClinVar, dbSNP, COSMIC) LOINC Code: (48003-8).
Control	0..1
Type	Extension
Extension.extension.id
Element Id	Extension.extension:id.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.extension
Element Id	Extension.extension:id.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.extension.url
Element Id	Extension.extension:id.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	Id
Extension.extension.valueCodeableConcept
Element Id	Extension.extension:id.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
Type	CodeableConcept
Extension.extension(Type)
Element Id	Extension.extension:type
Definition	Codified type for associated DNA sequence variant. DNA sequence variants use the HGVS notation, which implies the DNA sequence variant type. LOINC Code: (48019-4).
Control	0..1
Type	Extension
Extension.extension.id
Element Id	Extension.extension:type.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.extension
Element Id	Extension.extension:type.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.extension.url
Element Id	Extension.extension:type.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	Type
Extension.extension.valueCodeableConcept
Element Id	Extension.extension:type.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
Type	CodeableConcept
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-geneticsVariant
Extension.value[x]
Element Id	Extension.value[x]
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..0
Type	Choice of: base64Binary, boolean, canonical, code, date, dateTime, decimal, id, instant, integer, markdown, oid, positiveInt, string, time, unsignedInt, uri, url, uuid, Address, Age, Annotation, Attachment, CodeableConcept, Coding, ContactPoint, Count, Distance, Duration, HumanName, Identifier, Money, Period, Quantity, Range, Ratio, Reference, SampledData, Signature, Timing, ParameterDefinition, DataRequirement, RelatedArtifact, ContactDetail, Contributor, TriggerDefinition, UsageContext, Dosage
[x] Note	See Choice of Data Types for further information about how to use [x]