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Расширение Variant - Подробное описание

Orders and Observations Work Group Maturity Level: 1InformativeUse Context: Any

Detailed Descriptions for the elements in the extension.

Extension
Element IdExtension
Definition

Variant information.

Control0..1 This element is affected by the following invariants: ele-1
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

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.

Control0..*
TypeExtension
Alternate Namesextensions, 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.

SlicingThis element introduces a set of slices. The slicing rules are:
  • unordered
  • Open
  • discriminators: value:url
Extension.extension(Name)
Element IdExtension.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).

Control0..1
TypeExtension
Extension.extension.id
Element IdExtension.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.

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

An Extension

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

Control0..1
Terminology BindingNCBI central repository of potentially clinically relevant variants.
The codes SHOULD be taken from Clin var
TypeCodeableConcept
Extension.extension(Id)
Element IdExtension.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).

Control0..1
TypeExtension
Extension.extension.id
Element IdExtension.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.

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

An Extension

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

Control0..1
TypeCodeableConcept
Extension.extension(Type)
Element IdExtension.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).

Control0..1
TypeExtension
Extension.extension.id
Element IdExtension.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.

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

An Extension

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

Control0..1
TypeCodeableConcept
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-geneticsVariant
Extension.value[x]
Element IdExtension.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).

Control0..0
TypeChoice 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, ContactDetail, Contributor, DataRequirement, Expression, ParameterDefinition, RelatedArtifact, TriggerDefinition, UsageContext, Dosage
[x] NoteSee Choice of Data Types for further information about how to use [x]