This is the Continuous Integration Build of FHIR (will be incorrect/inconsistent at times).
See the Directory of published versions
Clinical Genomics Work Group | Maturity Level: 0 | Trial Use | Use Context: Any |
The canonical URL for this profile is:
http://hl7.org/fhir/StructureDefinition/allelesliced
FHIR Allele (Sliced) Profile
This profile was published on Thu, Dec 21, 2023 00:00+0000 as a draft by HL7 International / Clinical Genomics.
Description of Profiles, Differentials, Snapshots, and how the XML and JSON presentations work.
This structure is derived from MolecularDefinition.
Summary
to do
Mandatory: 5 elements
Must-Support: 2 elements
Prohibited: 1 element
Slices
This structure defines the following Slices:
This indicates the differences between this profile and the base MolecularDefinition structure.
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
MolecularDefinition | 0..* | MolecularDefinition | FHIR Allele Profile | |
type | 1..1 | code | Sequence type, e.g., aa, dna, or rna | |
location | 1..1 | BackboneElement | Location of this molecule | |
memberState | 0..0 | |||
Slices for representation | 1..* | BackboneElement | Representation Slice: Unordered, Open by value:focus | |
representation:All Slices | Content/Rules for all slices | |||
focus | 1..1 | CodeableConcept | The focus of the representation Slice: Unordered, Open by value:code | |
representation:ContextState | S | 0..1 | BackboneElement | Representation |
focus | 0..1 | CodeableConcept | The focus of the representation Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/moleculardefinition-focus | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: context-state | |
representation:AlleleState | S | 1..1 | BackboneElement | Representation |
focus | 0..1 | CodeableConcept | The focus of the representation Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/moleculardefinition-focus | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: allele-state | |
Documentation for this format |
This provides the consolidated view (aka snapshot) of the profile after applying the changes in this profile to the base MolecularDefinition structure.
Name | Flags | Card. | Type | Description & Constraints | ||||
---|---|---|---|---|---|---|---|---|
MolecularDefinition | 0..* | MolecularDefinition | FHIR Allele Profile | |||||
id | Σ | 0..1 | id | Logical id of this artifact | ||||
meta | Σ | 0..1 | Meta | Metadata about the resource | ||||
implicitRules | ?!Σ | 0..1 | uri | A set of rules under which this content was created | ||||
language | 0..1 | code | Language of the resource content Binding: All Languages (required): IETF language tag for a human language
| |||||
text | 0..1 | Narrative | Text summary of the resource, for human interpretation | |||||
contained | 0..* | Resource | Contained, inline Resources | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored | ||||
identifier | Σ | 0..* | Identifier | Unique ID for this particular resource | ||||
type | Σ | 1..1 | code | Sequence type, e.g., aa, dna, or rna Binding: sequence Type (required): Type of a molecule -- DNA, RNA, or amino acid sequence. | ||||
location | Σ | 1..1 | BackboneElement | Location of this molecule | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
sequenceLocation | Σ | 0..1 | BackboneElement | Location of this molecule in context of a sequence | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
sequenceContext | Σ | 1..1 | Reference(MolecularDefinition) | Reference sequence | ||||
coordinateInterval | Σ | 0..1 | BackboneElement | Coordinate Interval for this location | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
numberingSystem | Σ | 0..1 | CodeableConcept | Coordinate System | ||||
start[x] | Σ | 0..1 | Start | |||||
startQuantity | Quantity | |||||||
startRange | Range | |||||||
end[x] | Σ | 0..1 | End | |||||
endQuantity | Quantity | |||||||
endRange | Range | |||||||
strand | 0..1 | CodeableConcept | Forward or Reverse | |||||
cytobandLocation | Σ | 0..1 | BackboneElement | Location of this molecule in context of a cytoband | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
genomeAssembly | Σ | 1..1 | BackboneElement | Reference Genome | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
organism | 0..1 | CodeableConcept | Species of the organism | |||||
build | 0..1 | CodeableConcept | Build number | |||||
accession | 0..1 | CodeableConcept | Accession | |||||
description[x] | 0..1 | Genome assemble description | ||||||
descriptionMarkdown | markdown | |||||||
descriptionString | string | |||||||
cytobandInterval | Σ | 1..1 | BackboneElement | Cytoband Interval | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
chromosome | Σ | 1..1 | CodeableConcept | Chromosome | ||||
startCytoband | Σ | 0..1 | BackboneElement | Start | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
arm[x] | 0..1 | Arm | ||||||
armCode | code | |||||||
armString | string | |||||||
region[x] | 0..1 | Region | ||||||
regionCode | code | |||||||
regionString | string | |||||||
band[x] | 0..1 | Band | ||||||
bandCode | code | |||||||
bandString | string | |||||||
subBand[x] | 0..1 | Sub-band | ||||||
subBandCode | code | |||||||
subBandString | string | |||||||
endCytoband | Σ | 0..1 | BackboneElement | End | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
arm[x] | 0..1 | Arm | ||||||
armCode | code | |||||||
armString | string | |||||||
region[x] | 0..1 | Region | ||||||
regionCode | code | |||||||
regionString | string | |||||||
band[x] | 0..1 | Band | ||||||
bandCode | code | |||||||
bandString | string | |||||||
subBand[x] | 0..1 | SuBand | ||||||
subBandCode | code | |||||||
subBandString | string | |||||||
featureLocation | Σ | 0..* | BackboneElement | Location in context of a feature | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
geneId | Σ | 0..* | CodeableConcept | Gene Id | ||||
Slices for representation | Σ | 1..* | BackboneElement | Representation Slice: Unordered, Open by value:focus | ||||
representation:All Slices | Content/Rules for all slices | |||||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
focus | Σ | 1..1 | CodeableConcept | The focus of the representation | ||||
code | Σ | 0..* | CodeableConcept | A code of the representation | ||||
literal | Σ | 0..1 | BackboneElement | A literal representation | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
encoding | Σ | 0..1 | CodeableConcept | The encoding used for the expression of the primary sequence | ||||
value | Σ | 1..1 | string | The primary (linear) sequence, expressed as a literal string | ||||
resolvable | Σ | 0..1 | Attachment | A resolvable representation of a molecule that optionally contains formatting in addition to the specification of the primary sequence itself | ||||
extracted | Σ | 0..1 | BackboneElement | A Molecular Sequence that is represented as an extracted portion of a different Molecular Sequence | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
startingMolecule | Σ | 1..1 | Reference(MolecularDefinition) | The Molecular Sequence that serves as the parent sequence, from which the intended sequence will be extracted | ||||
start | Σ | 1..1 | integer | The start coordinate (on the parent sequence) of the interval that defines the subsequence to be extracted | ||||
end | Σ | 1..1 | integer | The end coordinate (on the parent sequence) of the interval that defines the subsequence to be extracted | ||||
coordinateSystem | Σ | 1..1 | CodeableConcept | The coordinate system used to define the interval that defines the subsequence to be extracted. Coordinate systems are usually 0- or 1-based | ||||
reverseComplement | Σ | 0..1 | boolean | A flag that indicates whether the extracted sequence should be reverse complemented | ||||
repeated | Σ | 0..1 | BackboneElement | A Molecular Sequence that is represented as a repeated sequence motif | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
sequenceMotif | Σ | 1..1 | Reference(MolecularDefinition) | The sequence that defines the repeated motif | ||||
copyCount | Σ | 1..1 | integer | The number of repeats (copies) of the sequence motif | ||||
concatenated | Σ | 0..1 | BackboneElement | A Molecular Sequence that is represented as an ordered concatenation of two or more Molecular Sequences | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
sequenceElement | Σ | 1..* | BackboneElement | One element of a concatenated Molecular Sequence | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
sequence | Σ | 1..1 | Reference(MolecularDefinition) | The Molecular Sequence corresponding to this element | ||||
ordinalIndex | Σ | 1..1 | integer | The ordinal position of this sequence element within the concatenated Molecular Sequence | ||||
relative | Σ | 0..1 | BackboneElement | A Molecular Definition that is represented as an ordered series of edits on a specified starting sequence | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
startingMolecule | Σ | 1..1 | Reference(MolecularDefinition) | The Molecular Sequence that serves as the starting sequence, on which edits will be applied | ||||
edit | Σ | 0..* | BackboneElement | An edit (change) made to a sequence | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
editOrder | 0..1 | integer | The order of this edit, relative to other edits on the starting sequence | |||||
coordinateSystem | Σ | 1..1 | CodeableConcept | The coordinate system used to define the edited intervals on the starting sequence. Coordinate systems are usually 0- or 1-based Binding: Genomic coordinate system. (extensible): Genomic coordinate system. | ||||
start | Σ | 1..1 | integer | The start coordinate of the interval that will be edited | ||||
end | Σ | 1..1 | integer | The end coordinate of the interval that will be edited | ||||
replacementMolecule | Σ | 1..1 | Reference(MolecularDefinition) | The sequence that defines the replacement sequence used in the edit operation | ||||
replacedMolecule | Σ | 0..1 | Reference(MolecularDefinition) | The sequence on the 'starting' sequence for the edit operation, defined by the specified interval, that will be replaced during the edit | ||||
representation:ContextState | SΣ | 0..1 | BackboneElement | Representation | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
focus | Σ | 0..1 | CodeableConcept | The focus of the representation Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/moleculardefinition-focus | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: context-state | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
code | Σ | 0..* | CodeableConcept | A code of the representation | ||||
literal | Σ | 0..1 | BackboneElement | A literal representation | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
encoding | Σ | 0..1 | CodeableConcept | The encoding used for the expression of the primary sequence | ||||
value | Σ | 1..1 | string | The primary (linear) sequence, expressed as a literal string | ||||
resolvable | Σ | 0..1 | Attachment | A resolvable representation of a molecule that optionally contains formatting in addition to the specification of the primary sequence itself | ||||
extracted | Σ | 0..1 | BackboneElement | A Molecular Sequence that is represented as an extracted portion of a different Molecular Sequence | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
startingMolecule | Σ | 1..1 | Reference(MolecularDefinition) | The Molecular Sequence that serves as the parent sequence, from which the intended sequence will be extracted | ||||
start | Σ | 1..1 | integer | The start coordinate (on the parent sequence) of the interval that defines the subsequence to be extracted | ||||
end | Σ | 1..1 | integer | The end coordinate (on the parent sequence) of the interval that defines the subsequence to be extracted | ||||
coordinateSystem | Σ | 1..1 | CodeableConcept | The coordinate system used to define the interval that defines the subsequence to be extracted. Coordinate systems are usually 0- or 1-based | ||||
reverseComplement | Σ | 0..1 | boolean | A flag that indicates whether the extracted sequence should be reverse complemented | ||||
repeated | Σ | 0..1 | BackboneElement | A Molecular Sequence that is represented as a repeated sequence motif | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
sequenceMotif | Σ | 1..1 | Reference(MolecularDefinition) | The sequence that defines the repeated motif | ||||
copyCount | Σ | 1..1 | integer | The number of repeats (copies) of the sequence motif | ||||
concatenated | Σ | 0..1 | BackboneElement | A Molecular Sequence that is represented as an ordered concatenation of two or more Molecular Sequences | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
sequenceElement | Σ | 1..* | BackboneElement | One element of a concatenated Molecular Sequence | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
sequence | Σ | 1..1 | Reference(MolecularDefinition) | The Molecular Sequence corresponding to this element | ||||
ordinalIndex | Σ | 1..1 | integer | The ordinal position of this sequence element within the concatenated Molecular Sequence | ||||
relative | Σ | 0..1 | BackboneElement | A Molecular Definition that is represented as an ordered series of edits on a specified starting sequence | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
startingMolecule | Σ | 1..1 | Reference(MolecularDefinition) | The Molecular Sequence that serves as the starting sequence, on which edits will be applied | ||||
edit | Σ | 0..* | BackboneElement | An edit (change) made to a sequence | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
editOrder | 0..1 | integer | The order of this edit, relative to other edits on the starting sequence | |||||
coordinateSystem | Σ | 1..1 | CodeableConcept | The coordinate system used to define the edited intervals on the starting sequence. Coordinate systems are usually 0- or 1-based Binding: Genomic coordinate system. (extensible): Genomic coordinate system. | ||||
start | Σ | 1..1 | integer | The start coordinate of the interval that will be edited | ||||
end | Σ | 1..1 | integer | The end coordinate of the interval that will be edited | ||||
replacementMolecule | Σ | 1..1 | Reference(MolecularDefinition) | The sequence that defines the replacement sequence used in the edit operation | ||||
replacedMolecule | Σ | 0..1 | Reference(MolecularDefinition) | The sequence on the 'starting' sequence for the edit operation, defined by the specified interval, that will be replaced during the edit | ||||
representation:AlleleState | SΣ | 1..1 | BackboneElement | Representation | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
focus | Σ | 0..1 | CodeableConcept | The focus of the representation Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/moleculardefinition-focus | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: allele-state | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
code | Σ | 0..* | CodeableConcept | A code of the representation | ||||
literal | Σ | 0..1 | BackboneElement | A literal representation | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
encoding | Σ | 0..1 | CodeableConcept | The encoding used for the expression of the primary sequence | ||||
value | Σ | 1..1 | string | The primary (linear) sequence, expressed as a literal string | ||||
resolvable | Σ | 0..1 | Attachment | A resolvable representation of a molecule that optionally contains formatting in addition to the specification of the primary sequence itself | ||||
extracted | Σ | 0..1 | BackboneElement | A Molecular Sequence that is represented as an extracted portion of a different Molecular Sequence | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
startingMolecule | Σ | 1..1 | Reference(MolecularDefinition) | The Molecular Sequence that serves as the parent sequence, from which the intended sequence will be extracted | ||||
start | Σ | 1..1 | integer | The start coordinate (on the parent sequence) of the interval that defines the subsequence to be extracted | ||||
end | Σ | 1..1 | integer | The end coordinate (on the parent sequence) of the interval that defines the subsequence to be extracted | ||||
coordinateSystem | Σ | 1..1 | CodeableConcept | The coordinate system used to define the interval that defines the subsequence to be extracted. Coordinate systems are usually 0- or 1-based | ||||
reverseComplement | Σ | 0..1 | boolean | A flag that indicates whether the extracted sequence should be reverse complemented | ||||
repeated | Σ | 0..1 | BackboneElement | A Molecular Sequence that is represented as a repeated sequence motif | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
sequenceMotif | Σ | 1..1 | Reference(MolecularDefinition) | The sequence that defines the repeated motif | ||||
copyCount | Σ | 1..1 | integer | The number of repeats (copies) of the sequence motif | ||||
concatenated | Σ | 0..1 | BackboneElement | A Molecular Sequence that is represented as an ordered concatenation of two or more Molecular Sequences | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
sequenceElement | Σ | 1..* | BackboneElement | One element of a concatenated Molecular Sequence | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
sequence | Σ | 1..1 | Reference(MolecularDefinition) | The Molecular Sequence corresponding to this element | ||||
ordinalIndex | Σ | 1..1 | integer | The ordinal position of this sequence element within the concatenated Molecular Sequence | ||||
relative | Σ | 0..1 | BackboneElement | A Molecular Definition that is represented as an ordered series of edits on a specified starting sequence | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
startingMolecule | Σ | 1..1 | Reference(MolecularDefinition) | The Molecular Sequence that serves as the starting sequence, on which edits will be applied | ||||
edit | Σ | 0..* | BackboneElement | An edit (change) made to a sequence | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
editOrder | 0..1 | integer | The order of this edit, relative to other edits on the starting sequence | |||||
coordinateSystem | Σ | 1..1 | CodeableConcept | The coordinate system used to define the edited intervals on the starting sequence. Coordinate systems are usually 0- or 1-based Binding: Genomic coordinate system. (extensible): Genomic coordinate system. | ||||
start | Σ | 1..1 | integer | The start coordinate of the interval that will be edited | ||||
end | Σ | 1..1 | integer | The end coordinate of the interval that will be edited | ||||
replacementMolecule | Σ | 1..1 | Reference(MolecularDefinition) | The sequence that defines the replacement sequence used in the edit operation | ||||
replacedMolecule | Σ | 0..1 | Reference(MolecularDefinition) | The sequence on the 'starting' sequence for the edit operation, defined by the specified interval, that will be replaced during the edit | ||||
Documentation for this format |
<!-- MolecularDefinitionAlleleSliced --> <MolecularDefinition xmlns="http://hl7.org/fhir" > <!-- from Element: extension --> <id value="[id]"/><!-- 0..1 Logical id of this artifact --> <meta><!-- I 0..1 Meta Metadata about the resource --></meta> <implicitRules value="[uri]"/><!-- I 0..1 A set of rules under which this content was created --> <language value="[code]"/><!-- I 0..1 Language of the resource content --> <text><!-- I 0..1 Narrative Text summary of the resource, for human interpretation --></text> <contained><!-- 0..* Resource Contained, inline Resources --></contained> <modifierExtension><!-- I 0..* Extension Extensions that cannot be ignored --></modifierExtension> <identifier><!-- I 0..* Identifier Unique ID for this particular resource --></identifier> <type value="[code]"/><!-- I 1..1 Sequence type, e.g., aa, dna, or rna --> <location> I 1..1 BackboneElement <!-- I 1..1 Location of this molecule --> <modifierExtension><!-- I 0..* Extension Extensions that cannot be ignored even if unrecognized --></modifierExtension> <sequenceLocation> I 0..1 BackboneElement <!-- I 0..1 Location of this molecule in context of a sequence --> <modifierExtension><!-- I 0..* Extension Extensions that cannot be ignored even if unrecognized --></modifierExtension> <sequenceContext><!-- I 1..1 Reference(MolecularDefinition) Reference sequence --></sequenceContext> <coordinateInterval> I 0..1 BackboneElement <!-- I 0..1 Coordinate Interval for this location --> <modifierExtension><!-- I 0..* Extension Extensions that cannot be ignored even if unrecognized --></modifierExtension> <numberingSystem><!-- I 0..1 CodeableConcept Coordinate System --></numberingSystem> <start[x]><!-- I 0..1 Quantity|Range Start --></start[x]> <end[x]><!-- I 0..1 Quantity|Range End --></end[x]> </coordinateInterval> <strand><!-- I 0..1 CodeableConcept Forward or Reverse --></strand> </sequenceLocation> <cytobandLocation> I 0..1 BackboneElement <!-- I 0..1 Location of this molecule in context of a cytoband --> <modifierExtension><!-- I 0..* Extension Extensions that cannot be ignored even if unrecognized --></modifierExtension> <genomeAssembly> I 1..1 BackboneElement <!-- I 1..1 Reference Genome --> <modifierExtension><!-- I 0..* Extension Extensions that cannot be ignored even if unrecognized --></modifierExtension> <organism><!-- I 0..1 CodeableConcept Species of the organism --></organism> <build><!-- I 0..1 CodeableConcept Build number --></build> <accession><!-- I 0..1 CodeableConcept Accession --></accession> <description[x]><!-- I 0..1 markdown|string Genome assemble description --></description[x]> </genomeAssembly> <cytobandInterval> I 1..1 BackboneElement <!-- I 1..1 Cytoband Interval --> <modifierExtension><!-- I 0..* Extension Extensions that cannot be ignored even if unrecognized --></modifierExtension> <chromosome><!-- I 1..1 CodeableConcept Chromosome --></chromosome> <startCytoband> I 0..1 BackboneElement <!-- I 0..1 Start --> <modifierExtension><!-- I 0..* Extension Extensions that cannot be ignored even if unrecognized --></modifierExtension> <arm[x]><!-- I 0..1 code|string Arm --></arm[x]> <region[x]><!-- I 0..1 code|string Region --></region[x]> <band[x]><!-- I 0..1 code|string Band --></band[x]> <subBand[x]><!-- I 0..1 code|string Sub-band --></subBand[x]> </startCytoband> <endCytoband> I 0..1 BackboneElement <!-- I 0..1 End --> <modifierExtension><!-- I 0..* Extension Extensions that cannot be ignored even if unrecognized --></modifierExtension> <arm[x]><!-- I 0..1 code|string Arm --></arm[x]> <region[x]><!-- I 0..1 code|string Region --></region[x]> <band[x]><!-- I 0..1 code|string Band --></band[x]> <subBand[x]><!-- I 0..1 code|string SuBand --></subBand[x]> </endCytoband> </cytobandInterval> </cytobandLocation> <featureLocation> I 0..* BackboneElement <!-- I 0..* Location in context of a feature --> <modifierExtension><!-- I 0..* Extension Extensions that cannot be ignored even if unrecognized --></modifierExtension> <geneId><!-- I 0..* CodeableConcept Gene Id --></geneId> </featureLocation> </location> <memberState><!-- I 0..0 Reference(MolecularDefinition) Member --></memberState> <-- representation sliced by value:focus in the specified orderOpen--> <representation> I 0..1 BackboneElement <!-- I 0..1 Representation --> <modifierExtension><!-- I 0..* Extension Extensions that cannot be ignored even if unrecognized --></modifierExtension> <focus><!-- I 0..1 CodeableConcept The focus of the representation --></focus> <code><!-- I 0..* CodeableConcept A code of the representation --></code> <literal> I 0..1 BackboneElement <!-- I 0..1 A literal representation --> <modifierExtension><!-- I 0..* Extension Extensions that cannot be ignored even if unrecognized --></modifierExtension> <encoding><!-- I 0..1 CodeableConcept The encoding used for the expression of the primary sequence --></encoding> <value value="[string]"/><!-- I 1..1 The primary (linear) sequence, expressed as a literal string --> </literal> <resolvable><!-- I 0..1 Attachment A resolvable representation of a molecule that optionally contains formatting in addition to the specification of the primary sequence itself --></resolvable> <extracted> I 0..1 BackboneElement <!-- I 0..1 A Molecular Sequence that is represented as an extracted portion of a different Molecular Sequence --> <modifierExtension><!-- I 0..* Extension Extensions that cannot be ignored even if unrecognized --></modifierExtension> <startingMolecule><!-- I 1..1 Reference(MolecularDefinition) The Molecular Sequence that serves as the parent sequence, from which the intended sequence will be extracted --></startingMolecule> <start value="[integer]"/><!-- I 1..1 The start coordinate (on the parent sequence) of the interval that defines the subsequence to be extracted --> <end value="[integer]"/><!-- I 1..1 The end coordinate (on the parent sequence) of the interval that defines the subsequence to be extracted --> <coordinateSystem><!-- I 1..1 CodeableConcept The coordinate system used to define the interval that defines the subsequence to be extracted. Coordinate systems are usually 0- or 1-based --></coordinateSystem> <reverseComplement value="[boolean]"/><!-- I 0..1 A flag that indicates whether the extracted sequence should be reverse complemented --> </extracted> <repeated> I 0..1 BackboneElement <!-- I 0..1 A Molecular Sequence that is represented as a repeated sequence motif --> <modifierExtension><!-- I 0..* Extension Extensions that cannot be ignored even if unrecognized --></modifierExtension> <sequenceMotif><!-- I 1..1 Reference(MolecularDefinition) The sequence that defines the repeated motif --></sequenceMotif> <copyCount value="[integer]"/><!-- I 1..1 The number of repeats (copies) of the sequence motif --> </repeated> <concatenated> I 0..1 BackboneElement <!-- I 0..1 A Molecular Sequence that is represented as an ordered concatenation of two or more Molecular Sequences --> <modifierExtension><!-- I 0..* Extension Extensions that cannot be ignored even if unrecognized --></modifierExtension> <sequenceElement> I 1..* BackboneElement <!-- I 1..* One element of a concatenated Molecular Sequence --> <modifierExtension><!-- I 0..* Extension Extensions that cannot be ignored even if unrecognized --></modifierExtension> <sequence><!-- I 1..1 Reference(MolecularDefinition) The Molecular Sequence corresponding to this element --></sequence> <ordinalIndex value="[integer]"/><!-- I 1..1 The ordinal position of this sequence element within the concatenated Molecular Sequence --> </sequenceElement> </concatenated> <relative> I 0..1 BackboneElement <!-- I 0..1 A Molecular Definition that is represented as an ordered series of edits on a specified starting sequence --> <modifierExtension><!-- I 0..* Extension Extensions that cannot be ignored even if unrecognized --></modifierExtension> <startingMolecule><!-- I 1..1 Reference(MolecularDefinition) The Molecular Sequence that serves as the starting sequence, on which edits will be applied --></startingMolecule> <edit> I 0..* BackboneElement <!-- I 0..* An edit (change) made to a sequence --> <modifierExtension><!-- I 0..* Extension Extensions that cannot be ignored even if unrecognized --></modifierExtension> <editOrder value="[integer]"/><!-- I 0..1 The order of this edit, relative to other edits on the starting sequence --> <coordinateSystem><!-- I 1..1 CodeableConcept The coordinate system used to define the edited intervals on the starting sequence. Coordinate systems are usually 0- or 1-based --></coordinateSystem> <start value="[integer]"/><!-- I 1..1 The start coordinate of the interval that will be edited --> <end value="[integer]"/><!-- I 1..1 The end coordinate of the interval that will be edited --> <replacementMolecule><!-- I 1..1 Reference(MolecularDefinition) The sequence that defines the replacement sequence used in the edit operation --></replacementMolecule> <replacedMolecule><!-- I 0..1 Reference(MolecularDefinition) The sequence on the 'starting' sequence for the edit operation, defined by the specified interval, that will be replaced during the edit --></replacedMolecule> </edit> </relative> </representation> <representation> I 1..1 BackboneElement <!-- I 1..1 Representation --> <modifierExtension><!-- I 0..* Extension Extensions that cannot be ignored even if unrecognized --></modifierExtension> <focus><!-- I 0..1 CodeableConcept The focus of the representation --></focus> <code><!-- I 0..* CodeableConcept A code of the representation --></code> <literal> I 0..1 BackboneElement <!-- I 0..1 A literal representation --> <modifierExtension><!-- I 0..* Extension Extensions that cannot be ignored even if unrecognized --></modifierExtension> <encoding><!-- I 0..1 CodeableConcept The encoding used for the expression of the primary sequence --></encoding> <value value="[string]"/><!-- I 1..1 The primary (linear) sequence, expressed as a literal string --> </literal> <resolvable><!-- I 0..1 Attachment A resolvable representation of a molecule that optionally contains formatting in addition to the specification of the primary sequence itself --></resolvable> <extracted> I 0..1 BackboneElement <!-- I 0..1 A Molecular Sequence that is represented as an extracted portion of a different Molecular Sequence --> <modifierExtension><!-- I 0..* Extension Extensions that cannot be ignored even if unrecognized --></modifierExtension> <startingMolecule><!-- I 1..1 Reference(MolecularDefinition) The Molecular Sequence that serves as the parent sequence, from which the intended sequence will be extracted --></startingMolecule> <start value="[integer]"/><!-- I 1..1 The start coordinate (on the parent sequence) of the interval that defines the subsequence to be extracted --> <end value="[integer]"/><!-- I 1..1 The end coordinate (on the parent sequence) of the interval that defines the subsequence to be extracted --> <coordinateSystem><!-- I 1..1 CodeableConcept The coordinate system used to define the interval that defines the subsequence to be extracted. Coordinate systems are usually 0- or 1-based --></coordinateSystem> <reverseComplement value="[boolean]"/><!-- I 0..1 A flag that indicates whether the extracted sequence should be reverse complemented --> </extracted> <repeated> I 0..1 BackboneElement <!-- I 0..1 A Molecular Sequence that is represented as a repeated sequence motif --> <modifierExtension><!-- I 0..* Extension Extensions that cannot be ignored even if unrecognized --></modifierExtension> <sequenceMotif><!-- I 1..1 Reference(MolecularDefinition) The sequence that defines the repeated motif --></sequenceMotif> <copyCount value="[integer]"/><!-- I 1..1 The number of repeats (copies) of the sequence motif --> </repeated> <concatenated> I 0..1 BackboneElement <!-- I 0..1 A Molecular Sequence that is represented as an ordered concatenation of two or more Molecular Sequences --> <modifierExtension><!-- I 0..* Extension Extensions that cannot be ignored even if unrecognized --></modifierExtension> <sequenceElement> I 1..* BackboneElement <!-- I 1..* One element of a concatenated Molecular Sequence --> <modifierExtension><!-- I 0..* Extension Extensions that cannot be ignored even if unrecognized --></modifierExtension> <sequence><!-- I 1..1 Reference(MolecularDefinition) The Molecular Sequence corresponding to this element --></sequence> <ordinalIndex value="[integer]"/><!-- I 1..1 The ordinal position of this sequence element within the concatenated Molecular Sequence --> </sequenceElement> </concatenated> <relative> I 0..1 BackboneElement <!-- I 0..1 A Molecular Definition that is represented as an ordered series of edits on a specified starting sequence --> <modifierExtension><!-- I 0..* Extension Extensions that cannot be ignored even if unrecognized --></modifierExtension> <startingMolecule><!-- I 1..1 Reference(MolecularDefinition) The Molecular Sequence that serves as the starting sequence, on which edits will be applied --></startingMolecule> <edit> I 0..* BackboneElement <!-- I 0..* An edit (change) made to a sequence --> <modifierExtension><!-- I 0..* Extension Extensions that cannot be ignored even if unrecognized --></modifierExtension> <editOrder value="[integer]"/><!-- I 0..1 The order of this edit, relative to other edits on the starting sequence --> <coordinateSystem><!-- I 1..1 CodeableConcept The coordinate system used to define the edited intervals on the starting sequence. Coordinate systems are usually 0- or 1-based --></coordinateSystem> <start value="[integer]"/><!-- I 1..1 The start coordinate of the interval that will be edited --> <end value="[integer]"/><!-- I 1..1 The end coordinate of the interval that will be edited --> <replacementMolecule><!-- I 1..1 Reference(MolecularDefinition) The sequence that defines the replacement sequence used in the edit operation --></replacementMolecule> <replacedMolecule><!-- I 0..1 Reference(MolecularDefinition) The sequence on the 'starting' sequence for the edit operation, defined by the specified interval, that will be replaced during the edit --></replacedMolecule> </edit> </relative> </representation> </MolecularDefinition>
{ // MolecularDefinitionAlleleSliced // from Element: extension "meta" : { Meta }, // IMetadata about the resource "implicitRules" : "<uri>", // IA set of rules under which this content was created "language" : "<code>", // ILanguage of the resource content "text" : { Narrative }, // IText summary of the resource, for human interpretation "contained" : [{ Resource }], //Contained, inline Resources "modifierExtension" : [{ Extension }], // IExtensions that cannot be ignored "identifier" : [{ Identifier }], // IUnique ID for this particular resource "type" : "<code>", // I R! Sequence type, e.g., aa, dna, or rna "location" : { BackboneElement }, // I R! Location of this molecule "representation" : [ // sliced by value:focus in the specified order, Open { // Representation // I // from Element: extension "modifierExtension" : [{ Extension }], // IExtensions that cannot be ignored even if unrecognized "focus" : { CodeableConcept }, // IThe focus of the representation "code" : [{ CodeableConcept }], // IA code of the representation "literal" : { BackboneElement }, // IA literal representation "resolvable" : { Attachment }, // IA resolvable representation of a molecule that optionally contains formatting in addition to the specification of the primary sequence itself "extracted" : { BackboneElement }, // IA Molecular Sequence that is represented as an extracted portion of a different Molecular Sequence "repeated" : { BackboneElement }, // IA Molecular Sequence that is represented as a repeated sequence motif "concatenated" : { BackboneElement }, // IA Molecular Sequence that is represented as an ordered concatenation of two or more Molecular Sequences "relative" : { BackboneElement } // IA Molecular Definition that is represented as an ordered series of edits on a specified starting sequence }, { // Representation // I R! // from Element: extension "modifierExtension" : [{ Extension }], // IExtensions that cannot be ignored even if unrecognized "focus" : { CodeableConcept }, // IThe focus of the representation "code" : [{ CodeableConcept }], // IA code of the representation "literal" : { BackboneElement }, // IA literal representation "resolvable" : { Attachment }, // IA resolvable representation of a molecule that optionally contains formatting in addition to the specification of the primary sequence itself "extracted" : { BackboneElement }, // IA Molecular Sequence that is represented as an extracted portion of a different Molecular Sequence "repeated" : { BackboneElement }, // IA Molecular Sequence that is represented as a repeated sequence motif "concatenated" : { BackboneElement }, // IA Molecular Sequence that is represented as an ordered concatenation of two or more Molecular Sequences "relative" : { BackboneElement } // IA Molecular Definition that is represented as an ordered series of edits on a specified starting sequence } ], }
This structure is derived from MolecularDefinition.
Summary
to do
Mandatory: 5 elements
Must-Support: 2 elements
Prohibited: 1 element
Slices
This structure defines the following Slices:
Differential View
This indicates the differences between this profile and the base MolecularDefinition structure.
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
MolecularDefinition | 0..* | MolecularDefinition | FHIR Allele Profile | |
type | 1..1 | code | Sequence type, e.g., aa, dna, or rna | |
location | 1..1 | BackboneElement | Location of this molecule | |
memberState | 0..0 | |||
Slices for representation | 1..* | BackboneElement | Representation Slice: Unordered, Open by value:focus | |
representation:All Slices | Content/Rules for all slices | |||
focus | 1..1 | CodeableConcept | The focus of the representation Slice: Unordered, Open by value:code | |
representation:ContextState | S | 0..1 | BackboneElement | Representation |
focus | 0..1 | CodeableConcept | The focus of the representation Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/moleculardefinition-focus | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: context-state | |
representation:AlleleState | S | 1..1 | BackboneElement | Representation |
focus | 0..1 | CodeableConcept | The focus of the representation Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/moleculardefinition-focus | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: allele-state | |
Documentation for this format |
Snapshot View
This provides the consolidated view (aka snapshot) of the profile after applying the changes in this profile to the base MolecularDefinition structure.
Name | Flags | Card. | Type | Description & Constraints | ||||
---|---|---|---|---|---|---|---|---|
MolecularDefinition | 0..* | MolecularDefinition | FHIR Allele Profile | |||||
id | Σ | 0..1 | id | Logical id of this artifact | ||||
meta | Σ | 0..1 | Meta | Metadata about the resource | ||||
implicitRules | ?!Σ | 0..1 | uri | A set of rules under which this content was created | ||||
language | 0..1 | code | Language of the resource content Binding: All Languages (required): IETF language tag for a human language
| |||||
text | 0..1 | Narrative | Text summary of the resource, for human interpretation | |||||
contained | 0..* | Resource | Contained, inline Resources | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored | ||||
identifier | Σ | 0..* | Identifier | Unique ID for this particular resource | ||||
type | Σ | 1..1 | code | Sequence type, e.g., aa, dna, or rna Binding: sequence Type (required): Type of a molecule -- DNA, RNA, or amino acid sequence. | ||||
location | Σ | 1..1 | BackboneElement | Location of this molecule | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
sequenceLocation | Σ | 0..1 | BackboneElement | Location of this molecule in context of a sequence | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
sequenceContext | Σ | 1..1 | Reference(MolecularDefinition) | Reference sequence | ||||
coordinateInterval | Σ | 0..1 | BackboneElement | Coordinate Interval for this location | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
numberingSystem | Σ | 0..1 | CodeableConcept | Coordinate System | ||||
start[x] | Σ | 0..1 | Start | |||||
startQuantity | Quantity | |||||||
startRange | Range | |||||||
end[x] | Σ | 0..1 | End | |||||
endQuantity | Quantity | |||||||
endRange | Range | |||||||
strand | 0..1 | CodeableConcept | Forward or Reverse | |||||
cytobandLocation | Σ | 0..1 | BackboneElement | Location of this molecule in context of a cytoband | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
genomeAssembly | Σ | 1..1 | BackboneElement | Reference Genome | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
organism | 0..1 | CodeableConcept | Species of the organism | |||||
build | 0..1 | CodeableConcept | Build number | |||||
accession | 0..1 | CodeableConcept | Accession | |||||
description[x] | 0..1 | Genome assemble description | ||||||
descriptionMarkdown | markdown | |||||||
descriptionString | string | |||||||
cytobandInterval | Σ | 1..1 | BackboneElement | Cytoband Interval | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
chromosome | Σ | 1..1 | CodeableConcept | Chromosome | ||||
startCytoband | Σ | 0..1 | BackboneElement | Start | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
arm[x] | 0..1 | Arm | ||||||
armCode | code | |||||||
armString | string | |||||||
region[x] | 0..1 | Region | ||||||
regionCode | code | |||||||
regionString | string | |||||||
band[x] | 0..1 | Band | ||||||
bandCode | code | |||||||
bandString | string | |||||||
subBand[x] | 0..1 | Sub-band | ||||||
subBandCode | code | |||||||
subBandString | string | |||||||
endCytoband | Σ | 0..1 | BackboneElement | End | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
arm[x] | 0..1 | Arm | ||||||
armCode | code | |||||||
armString | string | |||||||
region[x] | 0..1 | Region | ||||||
regionCode | code | |||||||
regionString | string | |||||||
band[x] | 0..1 | Band | ||||||
bandCode | code | |||||||
bandString | string | |||||||
subBand[x] | 0..1 | SuBand | ||||||
subBandCode | code | |||||||
subBandString | string | |||||||
featureLocation | Σ | 0..* | BackboneElement | Location in context of a feature | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
geneId | Σ | 0..* | CodeableConcept | Gene Id | ||||
Slices for representation | Σ | 1..* | BackboneElement | Representation Slice: Unordered, Open by value:focus | ||||
representation:All Slices | Content/Rules for all slices | |||||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
focus | Σ | 1..1 | CodeableConcept | The focus of the representation | ||||
code | Σ | 0..* | CodeableConcept | A code of the representation | ||||
literal | Σ | 0..1 | BackboneElement | A literal representation | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
encoding | Σ | 0..1 | CodeableConcept | The encoding used for the expression of the primary sequence | ||||
value | Σ | 1..1 | string | The primary (linear) sequence, expressed as a literal string | ||||
resolvable | Σ | 0..1 | Attachment | A resolvable representation of a molecule that optionally contains formatting in addition to the specification of the primary sequence itself | ||||
extracted | Σ | 0..1 | BackboneElement | A Molecular Sequence that is represented as an extracted portion of a different Molecular Sequence | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?! |