Release 4

This page is part of the FHIR Specification (v4.0.1: R4 - Mixed Normative and STU) in it's permanent home (it will always be available at this URL). 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 Allele - Detailed Descriptions

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

Detailed Descriptions for the elements in the extension.

Extension
Element IdExtension
Definition

Allele information.

Cardinality0..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.

Cardinality0..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.

Cardinality0..*
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.

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

An allele is one of a set of coexisting sequence variants of a gene (SO:0001023). This element is the common name for the allele. LOINC Code: (48008-7).

Cardinality0..1
TypeExtension
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.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.

Cardinality0..1
Typestring
Extension.extension.extension
Element IdExtension.extension:Name.extension
Definition

An Extension

Cardinality0..0
TypeExtension
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()
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.

Cardinality1..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.value[x]
Element IdExtension.extension:Name.value[x]
Definition

Value of extension - must be one of a constrained set of the data types (see Extensibility for a list).

Cardinality1..1
Terminology BindingEMBL-EBI database of AlleleName.
The codes SHOULD be taken from H l a
TypeCodeableConcept
[x] NoteSee Choice of Data Types for further information about how to use [x]
Invariants
Inherited by this element
ele-1RuleAll FHIR elements must have a @value or childrenhasValue() or (children().count() > id.count())
Extension.extension(State)
Element IdExtension.extension:State
Definition

The level of occurrence of a single DNA Sequence Variant within a set of chromosomes. Heterozygous indicates the DNA sequence variant is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Sequence Variant is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Sequence Variant exists in the only single copy of a gene in a non-homologous chromosome (the male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Sequence Variant is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Sequence Variant is present in all of the copies of mitochondrial DNA. LOINC Code: (53034-5).

Cardinality0..1
TypeExtension
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.extension.id
Element IdExtension.extension:State.id
Definition

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

Cardinality0..1
Typestring
Extension.extension.extension
Element IdExtension.extension:State.extension
Definition

An Extension

Cardinality0..0
TypeExtension
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()
SlicingThis element introduces a set of slices. The slicing rules are:
  • unordered
  • Open
  • discriminators: value:url
Extension.extension.url
Element IdExtension.extension:State.url
Definition

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

Cardinality1..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 ValueState
Extension.extension.value[x]
Element IdExtension.extension:State.value[x]
Definition

Value of extension - must be one of a constrained set of the data types (see Extensibility for a list).

Cardinality1..1
TypeCodeableConcept
[x] NoteSee Choice of Data Types for further information about how to use [x]
Invariants
Inherited by this element
ele-1RuleAll FHIR elements must have a @value or childrenhasValue() or (children().count() > id.count())
Extension.extension(Frequency)
Element IdExtension.extension:Frequency
Definition

A physical quality which inheres to the allele by virtue of the number instances of the allele within a population. LOINC Code: (81258-6).

Cardinality0..1
TypeExtension
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.extension.id
Element IdExtension.extension:Frequency.id
Definition

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

Cardinality0..1
Typestring
Extension.extension.extension
Element IdExtension.extension:Frequency.extension
Definition

An Extension

Cardinality0..0
TypeExtension
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()
SlicingThis element introduces a set of slices. The slicing rules are:
  • unordered
  • Open
  • discriminators: value:url
Extension.extension.url
Element IdExtension.extension:Frequency.url
Definition

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

Cardinality1..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 ValueFrequency
Extension.extension.value[x]
Element IdExtension.extension:Frequency.value[x]
Definition

Value of extension - must be one of a constrained set of the data types (see Extensibility for a list).

Cardinality1..1
Typedecimal
[x] NoteSee Choice of Data Types for further information about how to use [x]
Invariants
Inherited by this element
ele-1RuleAll FHIR elements must have a @value or childrenhasValue() or (children().count() > id.count())
Extension.url
Element IdExtension.url
Definition

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

Cardinality1..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-geneticsAllele
Extension.value[x]
Element IdExtension.value[x]
Definition

Value of extension - must be one of a constrained set of the data types (see Extensibility for a list).

Cardinality0..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, Meta
[x] NoteSee Choice of Data Types for further information about how to use [x]
Invariants
Inherited by this element
ele-1RuleAll FHIR elements must have a @value or childrenhasValue() or (children().count() > id.count())