This page is part of the FHIR Specification v6.0.0-ballot2: Release 6 Ballot (2nd Draft) (see Ballot Notes). The current version is 5.0.0. For a full list of available versions, see the Directory of published versions 
Clinical Genomics Work Group | Maturity Level: 0 | Trial Use | Security 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 : |
| 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 |