Extensions for Using Data Elements from FHIR R4 in FHIR STU3 - Downloaded Version null See the Directory of published versions
| Official URL: http://hl7.org/fhir/4.0/StructureDefinition/profile-MolecularSequence-for-Sequence | Version: 0.1.0 | |||
| Standards status: Trial-use | Maturity Level: 0 | Computable Name: Profile_R4_MolecularSequence_R3_Sequence | ||
This cross-version profile allows R4 MolecularSequence content to be represented via FHIR STU3 Sequence resources.
Usages:
You can also check for usages in the FHIR IG Statistics
Description of Profiles, Differentials, Snapshots and how the different presentations work.
| Name | Flags | Card. | Type | Description & Constraints Filter: ![]() ![]() |
|---|---|---|---|---|
![]() |
C | 0..* | Sequence | Information about a biological sequence Constraints: seq-3 |
![]() ![]() |
?!Σ | 0..1 | uri | A set of rules under which this content was created |
![]() ![]() |
0..* | Extension | Extension Slice: Unordered, Open by value:url | |
![]() ![]() ![]() |
0..* | (Complex) | R4: Structural variant (new) URL: http://hl7.org/fhir/4.0/StructureDefinition/extension-MolecularSequence.structureVariant | |
![]() ![]() |
?! | 0..* | Extension | Extensions that cannot be ignored |
![]() ![]() |
Σ | 1..1 | integer | Base number of coordinate system (0 for 0-based numbering or coordinates, inclusive start, exclusive end, 1 for 1-based numbering, inclusive start, inclusive end) |
Documentation for this format | ||||
| Id | Grade | Path(s) | Description | Expression |
| dom-1 | error | Sequence | If the resource is contained in another resource, it SHALL NOT contain any narrative |
contained.text.empty()
|
| dom-2 | error | Sequence | If the resource is contained in another resource, it SHALL NOT contain nested Resources |
contained.contained.empty()
|
| dom-3 | error | Sequence | If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource |
contained.where(('#'+id in %resource.descendants().reference).not()).empty()
|
| dom-4 | error | Sequence | If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated |
contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
|
| ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children |
hasValue() | (children().count() > id.count())
|
| ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both |
extension.exists() != value.exists()
|
| seq-3 | error | Sequence | Only 0 and 1 are valid for coordinateSystem |
coordinateSystem = 1 or coordinateSystem = 0
|
This structure is derived from Sequence
| Name | Flags | Card. | Type | Description & Constraints Filter: ![]() ![]() | ||||
|---|---|---|---|---|---|---|---|---|
![]() |
C | 0..* | Sequence | Information about a biological sequence Constraints: seq-3 | ||||
![]() ![]() |
Σ | 0..1 | id | Logical id of this artifact | ||||
![]() ![]() |
Σ | 0..1 | Meta | Metadata about the resource | ||||
![]() ![]() |
?!Σ | 0..1 | uri | A set of rules under which this content was created | ||||
![]() ![]() |
0..1 | code | Language of the resource content Binding: Common Languages (extensible): A human language.
| |||||
![]() ![]() |
0..1 | Narrative | Text summary of the resource, for human interpretation This profile does not constrain the narrative in regard to content, language, or traceability to data elements | |||||
![]() ![]() |
0..* | Resource | Contained, inline Resources | |||||
![]() ![]() |
0..* | Extension | Extension Slice: Unordered, Open by value:url | |||||
![]() ![]() ![]() |
0..* | (Complex) | R4: Structural variant (new) URL: http://hl7.org/fhir/4.0/StructureDefinition/extension-MolecularSequence.structureVariant | |||||
![]() ![]() |
?! | 0..* | Extension | Extensions that cannot be ignored | ||||
![]() ![]() |
Σ | 0..* | Identifier | Unique ID for this particular sequence. This is a FHIR-defined id | ||||
![]() ![]() |
Σ | 0..1 | code | aa | dna | rna Binding: sequenceType (example): Type if a sequence -- DNA, RNA, or amino acid sequence | ||||
![]() ![]() ![]() |
0..1 | string | xml:id (or equivalent in JSON) | |||||
![]() ![]() ![]() |
0..* | Extension | Extension Slice: Unordered, Open by value:url | |||||
![]() ![]() ![]() ![]() |
0..1 | code | R4: type URL: http://hl7.org/fhir/4.0/StructureDefinition/extension-MolecularSequence.type Binding: sequenceType (required): Type if a sequence -- DNA, RNA, or amino acid sequence. | |||||
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0..1 | code | Primitive value for code | |||||
![]() ![]() |
Σ | 1..1 | integer | Base number of coordinate system (0 for 0-based numbering or coordinates, inclusive start, exclusive end, 1 for 1-based numbering, inclusive start, inclusive end) | ||||
![]() ![]() |
Σ | 0..1 | Reference(Patient) | Who and/or what this is about | ||||
![]() ![]() |
Σ | 0..1 | Reference(Specimen) | Specimen used for sequencing | ||||
![]() ![]() |
Σ | 0..1 | Reference(Device) | The method for sequencing | ||||
![]() ![]() |
Σ | 0..1 | Reference(Organization) | Who should be responsible for test result | ||||
![]() ![]() |
Σ | 0..1 | Quantity | The number of copies of the seqeunce of interest. (RNASeq) | ||||
![]() ![]() |
ΣC | 0..1 | BackboneElement | A sequence used as reference Constraints: seq-4, seq-5, seq-6 | ||||
![]() ![]() ![]() |
0..1 | string | xml:id (or equivalent in JSON) | |||||
![]() ![]() ![]() |
0..* | Extension | Extension Slice: Unordered, Open by value:url | |||||
![]() ![]() ![]() ![]() |
0..1 | code | R4: sense | antisense (new) URL: http://hl7.org/fhir/4.0/StructureDefinition/extension-MolecularSequence.referenceSeq.orientation Binding: R4OrientationTypeForR3 (0.1.0) (required): Type for orientation. | |||||
![]() ![]() ![]() |
?!Σ | 0..* | Extension | Extensions that cannot be ignored | ||||
![]() ![]() ![]() |
Σ | 0..1 | CodeableConcept | Chromosome containing genetic finding Binding: chromosome-human (example): Chromosome number for human | ||||
![]() ![]() ![]() |
Σ | 0..1 | string | The Genome Build used for reference, following GRCh build versions e.g. 'GRCh 37' | ||||
![]() ![]() ![]() |
Σ | 0..1 | CodeableConcept | Reference identifier Binding: ENSEMBL (example): Reference identifier | ||||
![]() ![]() ![]() |
Σ | 0..1 | Reference(Sequence) | A Pointer to another Sequence entity as reference sequence | ||||
![]() ![]() ![]() |
Σ | 0..1 | string | A string to represent reference sequence | ||||
![]() ![]() ![]() |
Σ | 0..1 | integer | Directionality of DNA ( +1/-1) | ||||
![]() ![]() ![]() ![]() |
0..1 | string | xml:id (or equivalent in JSON) | |||||
![]() ![]() ![]() ![]() |
0..* | Extension | Extension Slice: Unordered, Open by value:url | |||||
![]() ![]() ![]() ![]() ![]() |
0..1 | code | R4: watson | crick additional types URL: http://hl7.org/fhir/4.0/StructureDefinition/extension-MolecularSequence.referenceSeq.strand Binding: R4StrandTypeForR3 (0.1.0) (required): Type for strand. | |||||
![]() ![]() ![]() ![]() |
0..1 | integer | Primitive value for integer | |||||
![]() ![]() ![]() |
Σ | 1..1 | integer | Start position of the window on the reference sequence | ||||
![]() ![]() ![]() |
Σ | 1..1 | integer | End position of the window on the reference sequence | ||||
![]() ![]() |
Σ | 0..* | BackboneElement | Variant in sequence | ||||
![]() ![]() ![]() |
0..1 | string | xml:id (or equivalent in JSON) | |||||
![]() ![]() ![]() |
0..* | Extension | Additional Content defined by implementations | |||||
![]() ![]() ![]() |
?!Σ | 0..* | Extension | Extensions that cannot be ignored | ||||
![]() ![]() ![]() |
Σ | 0..1 | integer | Start position of the variant on the reference sequence | ||||
![]() ![]() ![]() |
Σ | 0..1 | integer | End position of the variant on the reference sequence | ||||
![]() ![]() ![]() |
Σ | 0..1 | string | Allele that was observed | ||||
![]() ![]() ![]() |
Σ | 0..1 | string | Allele in the reference sequence | ||||
![]() ![]() ![]() |
Σ | 0..1 | string | Extended CIGAR string for aligning the sequence with reference bases | ||||
![]() ![]() ![]() |
Σ | 0..1 | Reference(Observation) | Pointer to observed variant information | ||||
![]() ![]() |
Σ | 0..1 | string | Sequence that was observed | ||||
![]() ![]() |
Σ | 0..* | BackboneElement | An set of value as quality of sequence | ||||
![]() ![]() ![]() |
0..1 | string | xml:id (or equivalent in JSON) | |||||
![]() ![]() ![]() |
0..* | Extension | Extension Slice: Unordered, Open by value:url | |||||
![]() ![]() ![]() ![]() |
0..1 | (Complex) | R4: Receiver Operator Characteristic (ROC) Curve (new) URL: http://hl7.org/fhir/4.0/StructureDefinition/extension-MolecularSequence.quality.roc | |||||
![]() ![]() ![]() |
?!Σ | 0..* | Extension | Extensions that cannot be ignored | ||||
![]() ![]() ![]() |
Σ | 1..1 | code | indel | snp | unknown Binding: qualityType (required): Type for quality report | ||||
![]() ![]() ![]() |
Σ | 0..1 | CodeableConcept | Standard sequence for comparison Binding: FDA-StandardSequence (example): Reference identifier of the sequence that used to mark the quality of tested samples. | ||||
![]() ![]() ![]() |
Σ | 0..1 | integer | Start position of the sequence | ||||
![]() ![]() ![]() |
Σ | 0..1 | integer | End position of the sequence | ||||
![]() ![]() ![]() |
Σ | 0..1 | Quantity | Quality score for the comparison | ||||
![]() ![]() ![]() |
Σ | 0..1 | CodeableConcept | Method to get quality Binding: FDA-Method (example): The method used to evaluate the numerical quality of the observed sequence. | ||||
![]() ![]() ![]() |
Σ | 0..1 | decimal | True positives from the perspective of the truth data | ||||
![]() ![]() ![]() |
Σ | 0..1 | decimal | True positives from the perspective of the query data | ||||
![]() ![]() ![]() |
Σ | 0..1 | decimal | False negatives | ||||
![]() ![]() ![]() |
Σ | 0..1 | decimal | False positives | ||||
![]() ![]() ![]() |
Σ | 0..1 | decimal | False positives where the non-REF alleles in the Truth and Query Call Sets match | ||||
![]() ![]() ![]() |
Σ | 0..1 | decimal | Precision of comparison | ||||
![]() ![]() ![]() |
Σ | 0..1 | decimal | Recall of comparison | ||||
![]() ![]() ![]() |
Σ | 0..1 | decimal | F-score | ||||
![]() ![]() |
Σ | 0..1 | integer | Average number of reads representing a given nucleotide in the reconstructed sequence | ||||
![]() ![]() |
Σ | 0..* | BackboneElement | External repository which contains detailed report related with observedSeq in this resource | ||||
![]() ![]() ![]() |
0..1 | string | xml:id (or equivalent in JSON) | |||||
![]() ![]() ![]() |
0..* | Extension | Additional Content defined by implementations | |||||
![]() ![]() ![]() |
?!Σ | 0..* | Extension | Extensions that cannot be ignored | ||||
![]() ![]() ![]() |
Σ | 1..1 | code | directlink | openapi | login | oauth | other Binding: repositoryType (required): Type for access of external URI | ||||
![]() ![]() ![]() |
Σ | 0..1 | uri | URI of the repository | ||||
![]() ![]() ![]() |
Σ | 0..1 | string | Repository's name | ||||
![]() ![]() ![]() |
Σ | 0..1 | string | Id of the dataset that used to call for dataset in repository | ||||
![]() ![]() ![]() |
Σ | 0..1 | string | Id of the variantset that used to call for variantset in repository | ||||
![]() ![]() ![]() |
Σ | 0..1 | string | Id of the read | ||||
![]() ![]() |
Σ | 0..* | Reference(Sequence) | Pointer to next atomic sequence | ||||
Documentation for this format | ||||||||
| Path | Status | Usage | ValueSet | Version | Source |
| Sequence.language | Base | extensible | Common Languages | 📍3.0.2 | FHIR Std. |
| Sequence.type | Base | example | sequenceType | 📍3.0.2 | FHIR Std. |
| Sequence.referenceSeq.chromosome | Base | example | chromosome-human | 📍3.0.2 | FHIR Std. |
| Sequence.referenceSeq.referenceSeqId | Base | example | ENSEMBL | 📍3.0.2 | FHIR Std. |
| Sequence.quality.type | Base | required | qualityType | 📍3.0.2 | FHIR Std. |
| Sequence.quality.standardSequence | Base | example | FDA-StandardSequence | 📍3.0.2 | FHIR Std. |
| Sequence.quality.method | Base | example | FDA-Method | 📍3.0.2 | FHIR Std. |
| Sequence.repository.type | Base | required | repositoryType | 📍3.0.2 | FHIR Std. |
| Id | Grade | Path(s) | Description | Expression |
| dom-1 | error | Sequence | If the resource is contained in another resource, it SHALL NOT contain any narrative |
contained.text.empty()
|
| dom-2 | error | Sequence | If the resource is contained in another resource, it SHALL NOT contain nested Resources |
contained.contained.empty()
|
| dom-3 | error | Sequence | If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource |
contained.where(('#'+id in %resource.descendants().reference).not()).empty()
|
| dom-4 | error | Sequence | If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated |
contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
|
| ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children |
hasValue() | (children().count() > id.count())
|
| ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both |
extension.exists() != value.exists()
|
| seq-3 | error | Sequence | Only 0 and 1 are valid for coordinateSystem |
coordinateSystem = 1 or coordinateSystem = 0
|
| seq-4 | error | Sequence.referenceSeq | Only +1 and -1 are valid for strand |
strand.empty() or strand = 1 or strand = -1
|
| seq-5 | error | Sequence.referenceSeq | GenomeBuild and chromosome must be both contained if either one of them is contained |
(chromosome.empty() and genomeBuild.empty()) or (chromosome.exists() and genomeBuild.exists())
|
| seq-6 | error | Sequence.referenceSeq | Have and only have one of the following elements in referenceSeq : 1. genomeBuild ; 2 referenceSeqId; 3. referenceSeqPointer; 4. referenceSeqString; |
(genomeBuild.count()+referenceSeqId.count()+ referenceSeqPointer.count()+ referenceSeqString.count()) = 1
|
This structure is derived from Sequence
Summary
Extensions
This structure refers to these extensions:
Maturity: 0
Key Elements View
| Name | Flags | Card. | Type | Description & Constraints Filter: ![]() ![]() |
|---|---|---|---|---|
![]() |
C | 0..* | Sequence | Information about a biological sequence Constraints: seq-3 |
![]() ![]() |
?!Σ | 0..1 | uri | A set of rules under which this content was created |
![]() ![]() |
0..* | Extension | Extension Slice: Unordered, Open by value:url | |
![]() ![]() ![]() |
0..* | (Complex) | R4: Structural variant (new) URL: http://hl7.org/fhir/4.0/StructureDefinition/extension-MolecularSequence.structureVariant | |
![]() ![]() |
?! | 0..* | Extension | Extensions that cannot be ignored |
![]() ![]() |
Σ | 1..1 | integer | Base number of coordinate system (0 for 0-based numbering or coordinates, inclusive start, exclusive end, 1 for 1-based numbering, inclusive start, inclusive end) |
Documentation for this format | ||||
| Id | Grade | Path(s) | Description | Expression |
| dom-1 | error | Sequence | If the resource is contained in another resource, it SHALL NOT contain any narrative |
contained.text.empty()
|
| dom-2 | error | Sequence | If the resource is contained in another resource, it SHALL NOT contain nested Resources |
contained.contained.empty()
|
| dom-3 | error | Sequence | If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource |
contained.where(('#'+id in %resource.descendants().reference).not()).empty()
|
| dom-4 | error | Sequence | If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated |
contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
|
| ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children |
hasValue() | (children().count() > id.count())
|
| ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both |
extension.exists() != value.exists()
|
| seq-3 | error | Sequence | Only 0 and 1 are valid for coordinateSystem |
coordinateSystem = 1 or coordinateSystem = 0
|
Differential View
This structure is derived from Sequence
Snapshot View
| Name | Flags | Card. | Type | Description & Constraints Filter: ![]() ![]() | ||||
|---|---|---|---|---|---|---|---|---|
![]() |
C | 0..* | Sequence | Information about a biological sequence Constraints: seq-3 | ||||
![]() ![]() |
Σ | 0..1 | id | Logical id of this artifact | ||||
![]() ![]() |
Σ | 0..1 | Meta | Metadata about the resource | ||||
![]() ![]() |
?!Σ | 0..1 | uri | A set of rules under which this content was created | ||||
![]() ![]() |
0..1 | code | Language of the resource content Binding: Common Languages (extensible): A human language.
| |||||
![]() ![]() |
0..1 | Narrative | Text summary of the resource, for human interpretation This profile does not constrain the narrative in regard to content, language, or traceability to data elements | |||||
![]() ![]() |
0..* | Resource | Contained, inline Resources | |||||
![]() ![]() |
0..* | Extension | Extension Slice: Unordered, Open by value:url | |||||
![]() ![]() ![]() |
0..* | (Complex) | R4: Structural variant (new) URL: http://hl7.org/fhir/4.0/StructureDefinition/extension-MolecularSequence.structureVariant | |||||
![]() ![]() |
?! | 0..* | Extension | Extensions that cannot be ignored | ||||
![]() ![]() |
Σ | 0..* | Identifier | Unique ID for this particular sequence. This is a FHIR-defined id | ||||
![]() ![]() |
Σ | 0..1 | code | aa | dna | rna Binding: sequenceType (example): Type if a sequence -- DNA, RNA, or amino acid sequence | ||||
![]() ![]() ![]() |
0..1 | string | xml:id (or equivalent in JSON) | |||||
![]() ![]() ![]() |
0..* | Extension | Extension Slice: Unordered, Open by value:url | |||||
![]() ![]() ![]() ![]() |
0..1 | code | R4: type URL: http://hl7.org/fhir/4.0/StructureDefinition/extension-MolecularSequence.type Binding: sequenceType (required): Type if a sequence -- DNA, RNA, or amino acid sequence. | |||||
![]() ![]() ![]() |
0..1 | code | Primitive value for code | |||||
![]() ![]() |
Σ | 1..1 | integer | Base number of coordinate system (0 for 0-based numbering or coordinates, inclusive start, exclusive end, 1 for 1-based numbering, inclusive start, inclusive end) | ||||
![]() ![]() |
Σ | 0..1 | Reference(Patient) | Who and/or what this is about | ||||
![]() ![]() |
Σ | 0..1 | Reference(Specimen) | Specimen used for sequencing | ||||
![]() ![]() |
Σ | 0..1 | Reference(Device) | The method for sequencing | ||||
![]() ![]() |
Σ | 0..1 | Reference(Organization) | Who should be responsible for test result | ||||
![]() ![]() |
Σ | 0..1 | Quantity | The number of copies of the seqeunce of interest. (RNASeq) | ||||
![]() ![]() |
ΣC | 0..1 | BackboneElement | A sequence used as reference Constraints: seq-4, seq-5, seq-6 | ||||
![]() ![]() ![]() |
0..1 | string | xml:id (or equivalent in JSON) | |||||
![]() ![]() ![]() |
0..* | Extension | Extension Slice: Unordered, Open by value:url | |||||
![]() ![]() ![]() ![]() |
0..1 | code | R4: sense | antisense (new) URL: http://hl7.org/fhir/4.0/StructureDefinition/extension-MolecularSequence.referenceSeq.orientation Binding: R4OrientationTypeForR3 (0.1.0) (required): Type for orientation. | |||||
![]() ![]() ![]() |
?!Σ | 0..* | Extension | Extensions that cannot be ignored | ||||
![]() ![]() ![]() |
Σ | 0..1 | CodeableConcept | Chromosome containing genetic finding Binding: chromosome-human (example): Chromosome number for human | ||||
![]() ![]() ![]() |
Σ | 0..1 | string | The Genome Build used for reference, following GRCh build versions e.g. 'GRCh 37' | ||||
![]() ![]() ![]() |
Σ | 0..1 | CodeableConcept | Reference identifier Binding: ENSEMBL (example): Reference identifier | ||||
![]() ![]() ![]() |
Σ | 0..1 | Reference(Sequence) | A Pointer to another Sequence entity as reference sequence | ||||
![]() ![]() ![]() |
Σ | 0..1 | string | A string to represent reference sequence | ||||
![]() ![]() ![]() |
Σ | 0..1 | integer | Directionality of DNA ( +1/-1) | ||||
![]() ![]() ![]() ![]() |
0..1 | string | xml:id (or equivalent in JSON) | |||||
![]() ![]() ![]() ![]() |
0..* | Extension | Extension Slice: Unordered, Open by value:url | |||||
![]() ![]() ![]() ![]() ![]() |
0..1 | code | R4: watson | crick additional types URL: http://hl7.org/fhir/4.0/StructureDefinition/extension-MolecularSequence.referenceSeq.strand Binding: R4StrandTypeForR3 (0.1.0) (required): Type for strand. | |||||
![]() ![]() ![]() ![]() |
0..1 | integer | Primitive value for integer | |||||
![]() ![]() ![]() |
Σ | 1..1 | integer | Start position of the window on the reference sequence | ||||
![]() ![]() ![]() |
Σ | 1..1 | integer | End position of the window on the reference sequence | ||||
![]() ![]() |
Σ | 0..* | BackboneElement | Variant in sequence | ||||
![]() ![]() ![]() |
0..1 | string | xml:id (or equivalent in JSON) | |||||
![]() ![]() ![]() |
0..* | Extension | Additional Content defined by implementations | |||||
![]() ![]() ![]() |
?!Σ | 0..* | Extension | Extensions that cannot be ignored | ||||
![]() ![]() ![]() |
Σ | 0..1 | integer | Start position of the variant on the reference sequence | ||||
![]() ![]() ![]() |
Σ | 0..1 | integer | End position of the variant on the reference sequence | ||||
![]() ![]() ![]() |
Σ | 0..1 | string | Allele that was observed | ||||
![]() ![]() ![]() |
Σ | 0..1 | string | Allele in the reference sequence | ||||
![]() ![]() ![]() |
Σ | 0..1 | string | Extended CIGAR string for aligning the sequence with reference bases | ||||
![]() ![]() ![]() |
Σ | 0..1 | Reference(Observation) | Pointer to observed variant information | ||||
![]() ![]() |
Σ | 0..1 | string | Sequence that was observed | ||||
![]() ![]() |
Σ | 0..* | BackboneElement | An set of value as quality of sequence | ||||
![]() ![]() ![]() |
0..1 | string | xml:id (or equivalent in JSON) | |||||
![]() ![]() ![]() |
0..* | Extension | Extension Slice: Unordered, Open by value:url | |||||
![]() ![]() ![]() ![]() |
0..1 | (Complex) | R4: Receiver Operator Characteristic (ROC) Curve (new) URL: http://hl7.org/fhir/4.0/StructureDefinition/extension-MolecularSequence.quality.roc | |||||
![]() ![]() ![]() |
?!Σ | 0..* | Extension | Extensions that cannot be ignored | ||||
![]() ![]() ![]() |
Σ | 1..1 | code | indel | snp | unknown Binding: qualityType (required): Type for quality report | ||||
![]() ![]() ![]() |
Σ | 0..1 | CodeableConcept | Standard sequence for comparison Binding: FDA-StandardSequence (example): Reference identifier of the sequence that used to mark the quality of tested samples. | ||||
![]() ![]() ![]() |
Σ | 0..1 | integer | Start position of the sequence | ||||
![]() ![]() ![]() |
Σ | 0..1 | integer | End position of the sequence | ||||
![]() ![]() ![]() |
Σ | 0..1 | Quantity | Quality score for the comparison | ||||
![]() ![]() ![]() |
Σ | 0..1 | CodeableConcept | Method to get quality Binding: FDA-Method (example): The method used to evaluate the numerical quality of the observed sequence. | ||||
![]() ![]() ![]() |
Σ | 0..1 | decimal | True positives from the perspective of the truth data | ||||
![]() ![]() ![]() |
Σ | 0..1 | decimal | True positives from the perspective of the query data | ||||
![]() ![]() ![]() |
Σ | 0..1 | decimal | False negatives | ||||
![]() ![]() ![]() |
Σ | 0..1 | decimal | False positives | ||||
![]() ![]() ![]() |
Σ | 0..1 | decimal | False positives where the non-REF alleles in the Truth and Query Call Sets match | ||||
![]() ![]() ![]() |
Σ | 0..1 | decimal | Precision of comparison | ||||
![]() ![]() ![]() |
Σ | 0..1 | decimal | Recall of comparison | ||||
![]() ![]() ![]() |
Σ | 0..1 | decimal | F-score | ||||
![]() ![]() |
Σ | 0..1 | integer | Average number of reads representing a given nucleotide in the reconstructed sequence | ||||
![]() ![]() |
Σ | 0..* | BackboneElement | External repository which contains detailed report related with observedSeq in this resource | ||||
![]() ![]() ![]() |
0..1 | string | xml:id (or equivalent in JSON) | |||||
![]() ![]() ![]() |
0..* | Extension | Additional Content defined by implementations | |||||
![]() ![]() ![]() |
?!Σ | 0..* | Extension | Extensions that cannot be ignored | ||||
![]() ![]() ![]() |
Σ | 1..1 | code | directlink | openapi | login | oauth | other Binding: repositoryType (required): Type for access of external URI | ||||
![]() ![]() ![]() |
Σ | 0..1 | uri | URI of the repository | ||||
![]() ![]() ![]() |
Σ | 0..1 | string | Repository's name | ||||
![]() ![]() ![]() |
Σ | 0..1 | string | Id of the dataset that used to call for dataset in repository | ||||
![]() ![]() ![]() |
Σ | 0..1 | string | Id of the variantset that used to call for variantset in repository | ||||
![]() ![]() ![]() |
Σ | 0..1 | string | Id of the read | ||||
![]() ![]() |
Σ | 0..* | Reference(Sequence) | Pointer to next atomic sequence | ||||
Documentation for this format | ||||||||
| Path | Status | Usage | ValueSet | Version | Source |
| Sequence.language | Base | extensible | Common Languages | 📍3.0.2 | FHIR Std. |
| Sequence.type | Base | example | sequenceType | 📍3.0.2 | FHIR Std. |
| Sequence.referenceSeq.chromosome | Base | example | chromosome-human | 📍3.0.2 | FHIR Std. |
| Sequence.referenceSeq.referenceSeqId | Base | example | ENSEMBL | 📍3.0.2 | FHIR Std. |
| Sequence.quality.type | Base | required | qualityType | 📍3.0.2 | FHIR Std. |
| Sequence.quality.standardSequence | Base | example | FDA-StandardSequence | 📍3.0.2 | FHIR Std. |
| Sequence.quality.method | Base | example | FDA-Method | 📍3.0.2 | FHIR Std. |
| Sequence.repository.type | Base | required | repositoryType | 📍3.0.2 | FHIR Std. |
| Id | Grade | Path(s) | Description | Expression |
| dom-1 | error | Sequence | If the resource is contained in another resource, it SHALL NOT contain any narrative |
contained.text.empty()
|
| dom-2 | error | Sequence | If the resource is contained in another resource, it SHALL NOT contain nested Resources |
contained.contained.empty()
|
| dom-3 | error | Sequence | If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource |
contained.where(('#'+id in %resource.descendants().reference).not()).empty()
|
| dom-4 | error | Sequence | If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated |
contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
|
| ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children |
hasValue() | (children().count() > id.count())
|
| ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both |
extension.exists() != value.exists()
|
| seq-3 | error | Sequence | Only 0 and 1 are valid for coordinateSystem |
coordinateSystem = 1 or coordinateSystem = 0
|
| seq-4 | error | Sequence.referenceSeq | Only +1 and -1 are valid for strand |
strand.empty() or strand = 1 or strand = -1
|
| seq-5 | error | Sequence.referenceSeq | GenomeBuild and chromosome must be both contained if either one of them is contained |
(chromosome.empty() and genomeBuild.empty()) or (chromosome.exists() and genomeBuild.exists())
|
| seq-6 | error | Sequence.referenceSeq | Have and only have one of the following elements in referenceSeq : 1. genomeBuild ; 2 referenceSeqId; 3. referenceSeqPointer; 4. referenceSeqString; |
(genomeBuild.count()+referenceSeqId.count()+ referenceSeqPointer.count()+ referenceSeqString.count()) = 1
|
This structure is derived from Sequence
Summary
Extensions
This structure refers to these extensions:
Maturity: 0
Other representations of profile: CSV, Excel, Schematron