HL7.FHIR.UV.EXTENSIONS\Amino Acid Change - Definitions

FHIR Extensions Pack
5.2.0 - February 2025 International flag

This page is part of the FHIR Core Extensions Registry (v5.2.0: Release 5.2) based on FHIR (HL7® FHIR® Standard) v5.0.0. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

Extension: AminoAcidChange - Detailed Descriptions

Page standards status: Deprecated

Maturity Level: 1

Definitions for the observation-geneticsAminoAcidChange extension.

Key Elements Table
Differential Elements Table
Snapshot Elements Table

Guidance on how to interpret the contents of this table can be found here

0. Extension
Definition	AminoAcidChange information. Optional Extension Element - found in all resources.
Short	AminoAcidChangeOptional Extensions Element
Control	0..1*
Is Modifier	false
Invariants	ele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count())) ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
2. Extension.extension:Name
Slice Name	Name
Definition	Human Genome Variation Society (HGVS) nomenclature for an amino acid change. Reference sequence ID used for HGVS naming must be annotated. An amino acid is a sequence feature that corresponds to a single amino acid residue in a polypeptide (SO:0001237). LOINC Code: (48005-3).
Short	HGVS nomenclature for observed Amino Acid ChangeAdditional content defined by implementations
Control	0..1*
Type	Extension
Is Modifier	false
Summary	false
Invariants	ele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count())) ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
4. Extension.extension:Name.extension
Definition	An Extension 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 managable, 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.
Short	ExtensionAdditional content defined by implementations
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.
Control	0..0*
Type	Extension
Is Modifier	false
Summary	false
Alternate Names	extensions, user content
Invariants	ele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count())) ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
Slicing	This element introduces a set of slices on `Extension.extension.extension`. The slices areUnordered and Open, and can be differentiated using the following discriminators: value @ url
6. Extension.extension:Name.url
Definition	Source of the definition for the extension code - a logical name or a URL.
Short	identifies the meaning of the extension
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.
Control	1..1
Type	uri
Is Modifier	false
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
XML Format	In the XML format, this property is represented as an attribute.
Summary	false
Fixed Value	`Name`
8. Extension.extension:Name.value[x]
Definition	Value of extension - must be one of a constrained set of the data types (see Extensibility for a list).
Short	Value of extension
Control	10..1 This element is affected by the following invariants: ext-1
Binding	NCBI central repository of potentially clinically relevant variants.
Type	CodeableConcept, date, Meta, Address, Attachment, integer, Count, DataRequirement, Dosage, uuid, Identifier, RatioRange, Coding, SampledData, id, positiveInt, Distance, Availability, integer64, Period, Duration, canonical, Range, RelatedArtifact, base64Binary, UsageContext, Timing, decimal, ExtendedContactDetail, ParameterDefinition, dateTime, code, string, oid, instant, ContactPoint, HumanName, Money, markdown, Ratio, Age, Reference, TriggerDefinition, Quantity, uri, url, Annotation, ContactDetail, boolean, Expression, CodeableReference, Signature, unsignedInt, time
[x] Note	SeeChoice of Data Typesfor further information about how to use [x]
Is Modifier	false
Summary	false
Invariants	ele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
10. Extension.extension:Type
Slice Name	Type
Definition	Codified type for associated Amino Acid Change. LOINC Code: (48006-1).
Short	Amino Acid Change TypeAdditional content defined by implementations
Control	0..1*
Type	Extension
Is Modifier	false
Summary	false
Invariants	ele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count())) ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
12. Extension.extension:Type.extension
Definition	An Extension 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 managable, 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.
Short	ExtensionAdditional content defined by implementations
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.
Control	0..0*
Type	Extension
Is Modifier	false
Summary	false
Alternate Names	extensions, user content
Invariants	ele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count())) ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
Slicing	This element introduces a set of slices on `Extension.extension.extension`. The slices areUnordered and Open, and can be differentiated using the following discriminators: value @ url
14. Extension.extension:Type.url
Definition	Source of the definition for the extension code - a logical name or a URL.
Short	identifies the meaning of the extension
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.
Control	1..1
Type	uri
Is Modifier	false
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
XML Format	In the XML format, this property is represented as an attribute.
Summary	false
Fixed Value	`Type`
16. Extension.extension:Type.value[x]
Definition	Value of extension - must be one of a constrained set of the data types (see Extensibility for a list).
Short	Value of extension
Control	10..1 This element is affected by the following invariants: ext-1
Type	CodeableConcept, date, Meta, Address, Attachment, integer, Count, DataRequirement, Dosage, uuid, Identifier, RatioRange, Coding, SampledData, id, positiveInt, Distance, Availability, integer64, Period, Duration, canonical, Range, RelatedArtifact, base64Binary, UsageContext, Timing, decimal, ExtendedContactDetail, ParameterDefinition, dateTime, code, string, oid, instant, ContactPoint, HumanName, Money, markdown, Ratio, Age, Reference, TriggerDefinition, Quantity, uri, url, Annotation, ContactDetail, boolean, Expression, CodeableReference, Signature, unsignedInt, time
[x] Note	SeeChoice of Data Typesfor further information about how to use [x]
Is Modifier	false
Summary	false
Invariants	ele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
18. Extension.url
Definition	Source of the definition for the extension code - a logical name or a URL.
Short	identifies the meaning of the extension
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.
Control	1..1
Type	uri
Is Modifier	false
XML Format	In the XML format, this property is represented as an attribute.
Summary	false
Fixed Value	`http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChange`
20. Extension.value[x]
Definition	Value of extension - must be one of a constrained set of the data types (see Extensibility for a list).
Short	Value of extension
Control	0..01 This element is affected by the following invariants: ext-1
Type	Choice of: base64Binary, boolean, canonical, code, date, dateTime, decimal, id, instant, integer, integer64, markdown, oid, positiveInt, string, time, unsignedInt, uri, url, uuid, Address, Age, Annotation, Attachment, CodeableConcept, CodeableReference, Coding, ContactPoint, Count, Distance, Duration, HumanName, Identifier, Money, Period, Quantity, Range, Ratio, RatioRange, Reference, SampledData, Signature, Timing, ContactDetail, DataRequirement, Expression, ParameterDefinition, RelatedArtifact, TriggerDefinition, UsageContext, Availability, ExtendedContactDetail, Dosage, Meta
Is Modifier	false
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
Summary	false
Invariants	ele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))

Guidance on how to interpret the contents of this table can be found here

0. Extension
Definition	AminoAcidChange information.
Short	AminoAcidChange
Control	0..1
2. Extension.extension:Name
Slice Name	Name
Definition	Human Genome Variation Society (HGVS) nomenclature for an amino acid change. Reference sequence ID used for HGVS naming must be annotated. An amino acid is a sequence feature that corresponds to a single amino acid residue in a polypeptide (SO:0001237). LOINC Code: (48005-3).
Short	HGVS nomenclature for observed Amino Acid Change
Control	0..1
Type	Extension
4. Extension.extension:Name.extension
Control	0..0
6. Extension.extension:Name.url
Type	uri
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
Fixed Value	`Name`
8. Extension.extension:Name.value[x]
Control	1..?
Binding	NCBI central repository of potentially clinically relevant variants.
Type	CodeableConcept
[x] Note	SeeChoice of Data Typesfor further information about how to use [x]
10. Extension.extension:Type
Slice Name	Type
Definition	Codified type for associated Amino Acid Change. LOINC Code: (48006-1).
Short	Amino Acid Change Type
Control	0..1
Type	Extension
12. Extension.extension:Type.extension
Control	0..0
14. Extension.extension:Type.url
Type	uri
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
Fixed Value	`Type`
16. Extension.extension:Type.value[x]
Control	1..?
Type	CodeableConcept
[x] Note	SeeChoice of Data Typesfor further information about how to use [x]
18. Extension.url
Fixed Value	`http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChange`
20. Extension.value[x]
Control	0..0

Guidance on how to interpret the contents of this table can be found here

0. Extension
Definition	AminoAcidChange information.
Short	AminoAcidChange
Control	0..1
Is Modifier	false
Invariants	ele-1: All FHIR elements must have a @value or children (`hasValue() or (children().count() > id.count())`) ext-1: Must have either extensions or value[x], not both (`extension.exists() != value.exists()`)
2. 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.
Short	Unique id for inter-element referencing
Control	0..1 This element is affected by the following invariants: ele-1
Type	id
Is Modifier	false
XML Format	In the XML format, this property is represented as an attribute.
Summary	false
4. 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 managable, 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.
Short	Additional content defined by implementations
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.
Control	0..*
Type	Extension
Is Modifier	false
Summary	false
Alternate Names	extensions, user content
Invariants	ele-1: All FHIR elements must have a @value or children (`hasValue() or (children().count() > id.count())`) ext-1: Must have either extensions or value[x], not both (`extension.exists() != value.exists()`)
Slicing	This element introduces a set of slices on `Extension.extension`. The slices areUnordered and Open, and can be differentiated using the following discriminators: value @ url
6. Extension.extension:Name
Slice Name	Name
Definition	Human Genome Variation Society (HGVS) nomenclature for an amino acid change. Reference sequence ID used for HGVS naming must be annotated. An amino acid is a sequence feature that corresponds to a single amino acid residue in a polypeptide (SO:0001237). LOINC Code: (48005-3).
Short	HGVS nomenclature for observed Amino Acid Change
Control	0..1
Type	Extension
Is Modifier	false
Summary	false
Invariants	ele-1: All FHIR elements must have a @value or children (`hasValue() or (children().count() > id.count())`) ext-1: Must have either extensions or value[x], not both (`extension.exists() != value.exists()`)
8. 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.
Short	Unique id for inter-element referencing
Control	0..1 This element is affected by the following invariants: ele-1
Type	id
Is Modifier	false
XML Format	In the XML format, this property is represented as an attribute.
Summary	false
10. Extension.extension:Name.extension
Definition	An Extension
Short	Extension
Control	0..0
Type	Extension
Is Modifier	false
Summary	false
Invariants	ele-1: All FHIR elements must have a @value or children (`hasValue() or (children().count() > id.count())`) ext-1: Must have either extensions or value[x], not both (`extension.exists() != value.exists()`)
Slicing	This element introduces a set of slices on `Extension.extension.extension`. The slices areUnordered and Open, and can be differentiated using the following discriminators: value @ url
12. Extension.extension:Name.url
Definition	Source of the definition for the extension code - a logical name or a URL.
Short	identifies the meaning of the extension
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.
Control	1..1
Type	uri
Is Modifier	false
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
XML Format	In the XML format, this property is represented as an attribute.
Summary	false
Fixed Value	`Name`
14. Extension.extension:Name.value[x]
Definition	Value of extension - must be one of a constrained set of the data types (see Extensibility for a list).
Short	Value of extension
Control	1..1 This element is affected by the following invariants: ext-1
Binding	NCBI central repository of potentially clinically relevant variants.
Type	CodeableConcept
[x] Note	SeeChoice of Data Typesfor further information about how to use [x]
Is Modifier	false
Summary	false
Invariants	ele-1: All FHIR elements must have a @value or children (`hasValue() or (children().count() > id.count())`)
16. Extension.extension:Type
Slice Name	Type
Definition	Codified type for associated Amino Acid Change. LOINC Code: (48006-1).
Short	Amino Acid Change Type
Control	0..1
Type	Extension
Is Modifier	false
Summary	false
Invariants	ele-1: All FHIR elements must have a @value or children (`hasValue() or (children().count() > id.count())`) ext-1: Must have either extensions or value[x], not both (`extension.exists() != value.exists()`)
18. 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.
Short	Unique id for inter-element referencing
Control	0..1 This element is affected by the following invariants: ele-1
Type	id
Is Modifier	false
XML Format	In the XML format, this property is represented as an attribute.
Summary	false
20. Extension.extension:Type.extension
Definition	An Extension
Short	Extension
Control	0..0
Type	Extension
Is Modifier	false
Summary	false
Invariants	ele-1: All FHIR elements must have a @value or children (`hasValue() or (children().count() > id.count())`) ext-1: Must have either extensions or value[x], not both (`extension.exists() != value.exists()`)
Slicing	This element introduces a set of slices on `Extension.extension.extension`. The slices areUnordered and Open, and can be differentiated using the following discriminators: value @ url
22. Extension.extension:Type.url
Definition	Source of the definition for the extension code - a logical name or a URL.
Short	identifies the meaning of the extension
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.
Control	1..1
Type	uri
Is Modifier	false
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
XML Format	In the XML format, this property is represented as an attribute.
Summary	false
Fixed Value	`Type`
24. Extension.extension:Type.value[x]
Definition	Value of extension - must be one of a constrained set of the data types (see Extensibility for a list).
Short	Value of extension
Control	1..1 This element is affected by the following invariants: ext-1
Type	CodeableConcept
[x] Note	SeeChoice of Data Typesfor further information about how to use [x]
Is Modifier	false
Summary	false
Invariants	ele-1: All FHIR elements must have a @value or children (`hasValue() or (children().count() > id.count())`)
26. Extension.url
Definition	Source of the definition for the extension code - a logical name or a URL.
Short	identifies the meaning of the extension
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.
Control	1..1
Type	uri
Is Modifier	false
XML Format	In the XML format, this property is represented as an attribute.
Summary	false
Fixed Value	`http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChange`
28. Extension.value[x]
Definition	Value of extension - must be one of a constrained set of the data types (see Extensibility for a list).
Short	Value of extension
Control	0..0 This element is affected by the following invariants: ext-1
Type	Choice of: base64Binary, boolean, canonical, code, date, dateTime, decimal, id, instant, integer, integer64, markdown, oid, positiveInt, string, time, unsignedInt, uri, url, uuid, Address, Age, Annotation, Attachment, CodeableConcept, CodeableReference, Coding, ContactPoint, Count, Distance, Duration, HumanName, Identifier, Money, Period, Quantity, Range, Ratio, RatioRange, Reference, SampledData, Signature, Timing, ContactDetail, DataRequirement, Expression, ParameterDefinition, RelatedArtifact, TriggerDefinition, UsageContext, Availability, ExtendedContactDetail, Dosage, Meta
Is Modifier	false
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
Summary	false
Invariants	ele-1: All FHIR elements must have a @value or children (`hasValue() or (children().count() > id.count())`)

IG © 2022+ HL7 International / FHIR Infrastructure. Package hl7.fhir.uv.extensions#5.2.0 based on FHIR 5.0.0. Generated 2025-02-10
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