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Clinical Genomics icon Work GroupMaturity Level: 0 Trial UseSecurity Category: N/A Compartments: No defined compartments

Detailed Descriptions for the elements in the MolecularDefinition resource.

MolecularDefinition
Element Id MolecularDefinition
Definition

Representation of a molecular definition.

Short Display Representation of a molecular definition
Cardinality 0..*
Type DomainResource
Summary false
MolecularDefinition.identifier
Element Id MolecularDefinition.identifier
Definition

A unique identifier for this particular resource instance.

Short Display Unique ID for this particular resource
Note This is a business identifier, not a resource identifier (see discussion)
Cardinality 0..*
Type Identifier
Requirements

Allows MolecularDefinition to be distinguished and referenced.

Summary true
MolecularDefinition.type
Element Id MolecularDefinition.type
Definition

The type of the Molecular Definition (Amino Acid, DNA, RNA).

Short Display aa | dna | rna
Cardinality 0..1
Terminology Binding sequence Type (Required)
Type code
Summary true
MolecularDefinition.location
Element Id MolecularDefinition.location
Definition

The molecular location of this molecule.

Short Display Location of this molecule
Cardinality 0..*
Summary true
MolecularDefinition.location.sequenceLocation
Element Id MolecularDefinition.location.sequenceLocation
Definition

The Location of this molecule in context of a sequence.

Short Display Location of this molecule in context of a sequence
Cardinality 0..1
Summary true
MolecularDefinition.location.sequenceLocation.sequenceContext
Element Id MolecularDefinition.location.sequenceLocation.sequenceContext
Definition

The reference Sequence that contains this location.

Short Display Reference sequence
Cardinality 1..1
Type Reference(MolecularDefinition)
Summary true
MolecularDefinition.location.sequenceLocation.coordinateInterval
Element Id MolecularDefinition.location.sequenceLocation.coordinateInterval
Definition

The coordinate interval for this location.

Short Display Coordinate Interval for this location
Cardinality 0..1
Summary true
MolecularDefinition.location.sequenceLocation.coordinateInterval.numberingSystem
Element Id MolecularDefinition.location.sequenceLocation.coordinateInterval.numberingSystem
Definition

The coordinate system of this interval.

Short Display Coordinate System
Cardinality 0..1
Type CodeableConcept
Summary true
MolecularDefinition.location.sequenceLocation.coordinateInterval.start[x]
Element Id MolecularDefinition.location.sequenceLocation.coordinateInterval.start[x]
Definition

The start of this interval.

Short Display Start
Cardinality 0..1
Type Quantity|Range
[x] Note See Choice of Datatypes for further information about how to use [x]
Summary true
MolecularDefinition.location.sequenceLocation.coordinateInterval.end[x]
Element Id MolecularDefinition.location.sequenceLocation.coordinateInterval.end[x]
Definition

The end of this interval.

Short Display End
Cardinality 0..1
Type Quantity|Range
[x] Note See Choice of Datatypes for further information about how to use [x]
Summary true
MolecularDefinition.location.sequenceLocation.strand
Element Id MolecularDefinition.location.sequenceLocation.strand
Definition

The identification of the strand direction, i.e, forward vs reverse strand.

Short Display Forward or Reverse
Cardinality 0..1
Type CodeableConcept
Summary false
MolecularDefinition.location.cytobandLocation
Element Id MolecularDefinition.location.cytobandLocation
Definition

The location of this molecule in context of a cytoband.

Short Display Location of this molecule in context of a cytoband
Cardinality 0..1
Summary true
MolecularDefinition.location.cytobandLocation.genomeAssembly
Element Id MolecularDefinition.location.cytobandLocation.genomeAssembly
Definition

The reference genome assemble.

Short Display Reference Genome
Cardinality 1..1
Summary true
MolecularDefinition.location.cytobandLocation.genomeAssembly.organism
Element Id MolecularDefinition.location.cytobandLocation.genomeAssembly.organism
Definition

Species of the organism.

Short Display Species of the organism
Cardinality 0..1
Type CodeableConcept
Summary false
MolecularDefinition.location.cytobandLocation.genomeAssembly.build
Element Id MolecularDefinition.location.cytobandLocation.genomeAssembly.build
Definition

The build number of this genome assemble.

Short Display Build number
Cardinality 0..1
Type CodeableConcept
Summary false
MolecularDefinition.location.cytobandLocation.genomeAssembly.accession
Element Id MolecularDefinition.location.cytobandLocation.genomeAssembly.accession
Definition

The accession of this genome assemble.

Short Display Accession
Cardinality 0..1
Type CodeableConcept
Summary false
MolecularDefinition.location.cytobandLocation.genomeAssembly.description[x]
Element Id MolecularDefinition.location.cytobandLocation.genomeAssembly.description[x]
Definition

The description of this genome assemble.

Short Display Genome assemble description
Cardinality 0..1
Type markdown|string
[x] Note See Choice of Datatypes for further information about how to use [x]
Summary false
MolecularDefinition.location.cytobandLocation.cytobandInterval
Element Id MolecularDefinition.location.cytobandLocation.cytobandInterval
Definition

The Cytoband Interval.

Short Display Cytoband Interval
Cardinality 1..1
Summary true
MolecularDefinition.location.cytobandLocation.cytobandInterval.chromosome
Element Id MolecularDefinition.location.cytobandLocation.cytobandInterval.chromosome
Definition

The chromosome where this cytoband interval occurs.

Short Display Chromosome
Cardinality 1..1
Type CodeableConcept
Summary true
MolecularDefinition.location.cytobandLocation.cytobandInterval.startCytoband
Element Id MolecularDefinition.location.cytobandLocation.cytobandInterval.startCytoband
Definition

The start of this cytoband Interval.

Short Display Start
Cardinality 0..1
Summary true
MolecularDefinition.location.cytobandLocation.cytobandInterval.startCytoband.arm[x]
Element Id MolecularDefinition.location.cytobandLocation.cytobandInterval.startCytoband.arm[x]
Definition

The arm of this start interval.

Short Display Arm
Cardinality 0..1
Type code|string
[x] Note See Choice of Datatypes for further information about how to use [x]
Summary false
MolecularDefinition.location.cytobandLocation.cytobandInterval.startCytoband.region[x]
Element Id MolecularDefinition.location.cytobandLocation.cytobandInterval.startCytoband.region[x]
Definition

The region of this start interval.

Short Display Region
Cardinality 0..1
Type code|string
[x] Note See Choice of Datatypes for further information about how to use [x]
Summary false
MolecularDefinition.location.cytobandLocation.cytobandInterval.startCytoband.band[x]
Element Id MolecularDefinition.location.cytobandLocation.cytobandInterval.startCytoband.band[x]
Definition

The band of this start interval.

Short Display Band
Cardinality 0..1
Type code|string
[x] Note See Choice of Datatypes for further information about how to use [x]
Summary false
MolecularDefinition.location.cytobandLocation.cytobandInterval.startCytoband.subBand[x]
Element Id MolecularDefinition.location.cytobandLocation.cytobandInterval.startCytoband.subBand[x]
Definition

The sub-band of this start interval.

Short Display Sub-band
Cardinality 0..1
Type code|string
[x] Note See Choice of Datatypes for further information about how to use [x]
Summary false
MolecularDefinition.location.cytobandLocation.cytobandInterval.endCytoband
Element Id MolecularDefinition.location.cytobandLocation.cytobandInterval.endCytoband
Definition

The end of this cytoband Interval.

Short Display End
Cardinality 0..1
Summary true
MolecularDefinition.location.cytobandLocation.cytobandInterval.endCytoband.arm[x]
Element Id MolecularDefinition.location.cytobandLocation.cytobandInterval.endCytoband.arm[x]
Definition

The arm of this end interval.

Short Display Arm
Cardinality 0..1
Type code|string
[x] Note See Choice of Datatypes for further information about how to use [x]
Summary false
MolecularDefinition.location.cytobandLocation.cytobandInterval.endCytoband.region[x]
Element Id MolecularDefinition.location.cytobandLocation.cytobandInterval.endCytoband.region[x]
Definition

The region of this end interval.

Short Display Region
Cardinality 0..1
Type code|string
[x] Note See Choice of Datatypes for further information about how to use [x]
Summary false
MolecularDefinition.location.cytobandLocation.cytobandInterval.endCytoband.band[x]
Element Id MolecularDefinition.location.cytobandLocation.cytobandInterval.endCytoband.band[x]
Definition

The band of this end interval.

Short Display Band
Cardinality 0..1
Type code|string
[x] Note See Choice of Datatypes for further information about how to use [x]
Summary false
MolecularDefinition.location.cytobandLocation.cytobandInterval.endCytoband.subBand[x]
Element Id MolecularDefinition.location.cytobandLocation.cytobandInterval.endCytoband.subBand[x]
Definition

The sub-band of this end interval.

Short Display SuBand
Cardinality 0..1
Type code|string
[x] Note See Choice of Datatypes for further information about how to use [x]
Summary false
MolecularDefinition.location.featureLocation
Element Id MolecularDefinition.location.featureLocation
Definition

The location of this molecule in context of a feature.

Short Display Location in context of a feature
Cardinality 0..*
Summary true
MolecularDefinition.location.featureLocation.geneId
Element Id MolecularDefinition.location.featureLocation.geneId
Definition

The gene Id where this molecule occurs.

Short Display Gene Id
Cardinality 0..*
Type CodeableConcept
Summary true
MolecularDefinition.memberState
Element Id MolecularDefinition.memberState
Definition

A member or part of this molecule.

Short Display Member
Cardinality 0..*
Type Reference(MolecularDefinition)
Summary true
MolecularDefinition.representation
Element Id MolecularDefinition.representation
Definition

The representation of this molecular definition, e.g., as a literal or repeated elements.

Short Display Representation
Cardinality 0..*
Summary true
MolecularDefinition.representation.focus
Element Id MolecularDefinition.representation.focus
Definition

A representation focus, e.g., reference or alternative state.

Short Display The focus of the representation
Cardinality 0..1
Type CodeableConcept
Summary true
MolecularDefinition.representation.code
Element Id MolecularDefinition.representation.code
Definition

A representation code.

Short Display A code of the representation
Cardinality 0..*
Type CodeableConcept
Summary true
MolecularDefinition.representation.literal
Element Id MolecularDefinition.representation.literal
Definition

A literal representation.

Short Display A literal representation
Cardinality 0..1
Summary true
MolecularDefinition.representation.literal.encoding
Element Id MolecularDefinition.representation.literal.encoding
Definition

The encoding used for the expression of the primary sequence. This defines the characters that may be used in the primary sequence and it permits the explicit inclusion/exclusion of IUPAC ambiguity codes.

Short Display The encoding used for the expression of the primary sequence
Cardinality 0..1
Type CodeableConcept
Summary true
MolecularDefinition.representation.literal.value
Element Id MolecularDefinition.representation.literal.value
Definition

The primary (linear) sequence, expressed as a literal string.

Short Display The primary (linear) sequence, expressed as a literal string
Cardinality 1..1
Type string
Summary true
MolecularDefinition.representation.resolvable
Element Id MolecularDefinition.representation.resolvable
Definition

A resolvable representation of a molecule that optionally contains formatting in addition to the specification of the primary sequence itself. The sequence may be provided inline as an attached document or through a resolvable URI.

Short Display A resolvable representation of a molecule that optionally contains formatting in addition to the specification of the primary sequence itself
Cardinality 0..1
Type Attachment
Summary true
Comments

Attachment.data for inline, .url for resolvable, optionally with .contentType for format.

MolecularDefinition.representation.extracted
Element Id MolecularDefinition.representation.extracted
Definition

A Molecular Sequence that is represented as an extracted portion of a different Molecular Sequence.

Short Display A Molecular Sequence that is represented as an extracted portion of a different Molecular Sequence
Cardinality 0..1
Summary true
MolecularDefinition.representation.extracted.startingMolecule
Element Id MolecularDefinition.representation.extracted.startingMolecule
Definition

The Molecular Sequence that serves as the parent sequence, from which the intended sequence will be extracted.

Short Display The Molecular Sequence that serves as the parent sequence, from which the intended sequence will be extracted
Cardinality 1..1
Type Reference(MolecularDefinition)
Summary true
MolecularDefinition.representation.extracted.start
Element Id MolecularDefinition.representation.extracted.start
Definition

The start coordinate (on the parent sequence) of the interval that defines the subsequence to be extracted.

Short Display The start coordinate (on the parent sequence) of the interval that defines the subsequence to be extracted
Cardinality 1..1
Type integer
Summary true
MolecularDefinition.representation.extracted.end
Element Id MolecularDefinition.representation.extracted.end
Definition

The end coordinate (on the parent sequence) of the interval that defines the subsequence to be extracted.

Short Display The end coordinate (on the parent sequence) of the interval that defines the subsequence to be extracted
Cardinality 1..1
Type integer
Summary true
MolecularDefinition.representation.extracted.coordinateSystem
Element Id MolecularDefinition.representation.extracted.coordinateSystem
Definition

The coordinate system used to define the interval that defines the subsequence to be extracted. Coordinate systems are usually 0- or 1-based.

Short Display The coordinate system used to define the interval that defines the subsequence to be extracted. Coordinate systems are usually 0- or 1-based
Cardinality 1..1
Type CodeableConcept
Summary true
MolecularDefinition.representation.extracted.reverseComplement
Element Id MolecularDefinition.representation.extracted.reverseComplement
Definition

A flag that indicates whether the extracted sequence should be reverse complemented.

Short Display A flag that indicates whether the extracted sequence should be reverse complemented
Cardinality 0..1
Type boolean
Summary true
Comments

This attribute might be needed in all sequence representation classes, so that any sequence representation could be reverseComplemented.

MolecularDefinition.representation.repeated
Element Id MolecularDefinition.representation.repeated
Definition

A Molecular Sequence that is represented as a repeated sequence motif.

Short Display A Molecular Sequence that is represented as a repeated sequence motif
Cardinality 0..1
Summary true
Comments

This class represents motifs that occur in tandem (immediately adjacent to each other) and without edits (each copy of the motif is identical).

MolecularDefinition.representation.repeated.sequenceMotif
Element Id MolecularDefinition.representation.repeated.sequenceMotif
Definition

The sequence that defines the repeated motif.

Short Display The sequence that defines the repeated motif
Cardinality 1..1
Type Reference(MolecularDefinition)
Summary true
MolecularDefinition.representation.repeated.copyCount
Element Id MolecularDefinition.representation.repeated.copyCount
Definition

The number of repeats (copies) of the sequence motif.

Short Display The number of repeats (copies) of the sequence motif
Cardinality 1..1
Type integer
Summary true
MolecularDefinition.representation.concatenated
Element Id MolecularDefinition.representation.concatenated
Definition

A Molecular Sequence that is represented as an ordered concatenation of two or more Molecular Sequences.

Short Display A Molecular Sequence that is represented as an ordered concatenation of two or more Molecular Sequences
Cardinality 0..1
Summary true
MolecularDefinition.representation.concatenated.sequenceElement
Element Id MolecularDefinition.representation.concatenated.sequenceElement
Definition

One element of a concatenated Molecular Sequence.

Short Display One element of a concatenated Molecular Sequence
Cardinality 1..*
Summary true
Comments

At least two sequenceElement elements are required to represent a concatenated sequence.

MolecularDefinition.representation.concatenated.sequenceElement.sequence
Element Id MolecularDefinition.representation.concatenated.sequenceElement.sequence
Definition

The Molecular Sequence corresponding to this element.

Short Display The Molecular Sequence corresponding to this element
Cardinality 1..1
Type Reference(MolecularDefinition)
Summary true
MolecularDefinition.representation.concatenated.sequenceElement.ordinalIndex
Element Id MolecularDefinition.representation.concatenated.sequenceElement.ordinalIndex
Definition

The ordinal position of this sequence element within the concatenated Molecular Sequence.

Short Display The ordinal position of this sequence element within the concatenated Molecular Sequence
Cardinality 1..1
Type integer
Summary true
Comments

0 or 1 based indices are possible, could potentially skip numbers in the sequence, suggest implementers sort numerically prior to concatenating

MolecularDefinition.representation.relative
Element Id MolecularDefinition.representation.relative
Definition

A Molecular Definition that is represented as an ordered series of edits on a specified starting sequence.

Short Display A Molecular Definition that is represented as an ordered series of edits on a specified starting sequence
Cardinality 0..1
Summary true
MolecularDefinition.representation.relative.startingMolecule
Element Id MolecularDefinition.representation.relative.startingMolecule
Definition

The Molecular Sequence that serves as the starting sequence, on which edits will be applied.

Short Display The Molecular Sequence that serves as the starting sequence, on which edits will be applied
Cardinality 1..1
Type Reference(MolecularDefinition)
Summary true
MolecularDefinition.representation.relative.edit
Element Id MolecularDefinition.representation.relative.edit
Definition

An edit (change) made to a sequence.

Short Display An edit (change) made to a sequence
Cardinality 0..*
Summary true
Comments

Edits are applied sequentially. The sequence that results from one edit operation is used as the 'starting' sequence of the next edit operation.

MolecularDefinition.representation.relative.edit.editOrder
Element Id MolecularDefinition.representation.relative.edit.editOrder
Definition

The order of this edit, relative to other edits on the starting sequence.

Short Display The order of this edit, relative to other edits on the starting sequence
Cardinality 0..1
Type integer
Summary false
MolecularDefinition.representation.relative.edit.coordinateSystem
Element Id MolecularDefinition.representation.relative.edit.coordinateSystem
Definition

The coordinate system used to define the edited intervals on the starting sequence. Coordinate systems are usually 0- or 1-based.

Short Display The coordinate system used to define the edited intervals on the starting sequence. Coordinate systems are usually 0- or 1-based
Cardinality 1..1
Terminology Binding LL5323-2 icon:
Type CodeableConcept
Summary true
MolecularDefinition.representation.relative.edit.start
Element Id MolecularDefinition.representation.relative.edit.start
Definition

The start coordinate of the interval that will be edited.

Short Display The start coordinate of the interval that will be edited
Cardinality 1..1
Type integer
Summary true
MolecularDefinition.representation.relative.edit.end
Element Id MolecularDefinition.representation.relative.edit.end
Definition

The end coordinate of the interval that will be edited.

Short Display The end coordinate of the interval that will be edited
Cardinality 1..1
Type integer
Summary true
MolecularDefinition.representation.relative.edit.replacementMolecule
Element Id MolecularDefinition.representation.relative.edit.replacementMolecule
Definition

The sequence that defines the replacement sequence used in the edit operation.

Short Display The sequence that defines the replacement sequence used in the edit operation
Cardinality 1..1
Type Reference(MolecularDefinition)
Summary true
MolecularDefinition.representation.relative.edit.replacedMolecule
Element Id MolecularDefinition.representation.relative.edit.replacedMolecule
Definition

The sequence on the 'starting' sequence for the edit operation, defined by the specified interval, that will be replaced during the edit.

Short Display The sequence on the 'starting' sequence for the edit operation, defined by the specified interval, that will be replaced during the edit
Cardinality 0..1
Type Reference(MolecularDefinition)
Summary true