This
page
is
part
of
the
FHIR
Specification
(v3.0.2:
STU
(v5.0.0-ballot:
R5
Ballot
-
see
ballot
notes
3).
).
The
current
version
which
supercedes
this
version
is
5.0.0
.
For
a
full
list
of
available
versions,
see
the
Directory
of
published
versions
Work
Group
|
|
|
| Compartments : Patient |
This
is
a
code
system
defined
by
Detailed
Descriptions
for
the
FHIR
project.
elements
in
the
GenomicStudy
resource.
| GenomicStudy | |
| Element Id | GenomicStudy |
| Definition | A Genomic Study is a set of analysis performed to analyze and generate genomic data. |
| Short Display | Genomic Study |
| Cardinality | 0..* |
| Type | DomainResource |
| Summary | false |
| GenomicStudy.identifier | |
| Element Id | GenomicStudy.identifier |
| Definition | Identifiers for this genomic study. |
|
|
|
|
|
|
|
|
|
| Type | Identifier |
| Summary | false |
| GenomicStudy.status | |
| Element Id | GenomicStudy.status |
| Definition |
The
status
of
|
|
|
The status of the genomic study |
|
Cardinality
|
1..1 |
|
|
|
|
|
|
| Is Modifier |
true
(Reason:
This
|
|
Summary
|
true |
| GenomicStudy.type | |
| Element Id | GenomicStudy.type |
| Definition |
The
type
of
the
|
| Short Display |
The
type
of
|
|
Cardinality
|
0..* |
| Terminology Binding |
|
| Type | CodeableConcept |
| Summary | false |
| GenomicStudy.subject | |
| Element Id | GenomicStudy.subject |
| Definition |
|
| Short Display |
The
primary
subject
of
|
| Cardinality | 1..1 |
| Type | Reference ( Patient | Group | Device | Location | Organization | Procedure | Practitioner | Medication | Substance | BiologicallyDerivedProduct | NutritionProduct ) |
| Summary | true |
| GenomicStudy.encounter | |
| Element Id | GenomicStudy.encounter |
| Definition | The healthcare event with which this genomics study is associated. |
| Short Display | The healthcare event with which this genomics study is associated |
| Cardinality | 0..1 |
| Type | Reference ( Encounter ) |
| Summary | false |
| GenomicStudy.startDate | |
| Element Id | GenomicStudy.startDate |
| Definition |
|
| Short Display | When the genomic study was started |
| Cardinality | 0..1 |
| Type | dateTime |
| Summary | false |
|
|
|
| Element Id | GenomicStudy.basedOn |
| Definition | Event resources that the genomic study is based on. |
| Short Display | Event resources that the genomic study is based on |
| Cardinality | 0..* |
| Type | Reference ( ServiceRequest | Task ) |
| Summary | false |
| GenomicStudy.referrer | |
| Element Id | GenomicStudy.referrer |
| Definition | Healthcare professional who requested or referred the genomic study. |
| Short Display | Healthcare professional who requested or referred the genomic study |
| Cardinality | 0..1 |
| Type | Reference ( Practitioner | PractitionerRole ) |
| Summary | false |
| GenomicStudy.interpreter | |
| Element Id | GenomicStudy.interpreter |
| Definition |
Healthcare professionals who interpreted the genomic study. |
| Short Display | Healthcare professionals who interpreted the genomic study |
| Cardinality | 0..* |
| Type | Reference ( Practitioner | PractitionerRole ) |
| Summary | false |
| GenomicStudy.reason | |
| Element Id | GenomicStudy.reason |
|
| Why the genomic study was performed. |
| Short Display | Why the genomic study was performed |
| Cardinality |
|
| Type | CodeableReference ( Condition | Observation ) |
| Summary | false |
| GenomicStudy.instantiatesCanonical | |
| Element Id | GenomicStudy.instantiatesCanonical |
| Definition |
The
|
| Short Display | The defined protocol that describes the study |
|
|
|
| Type | canonical ( PlanDefinition ) |
| Summary | false |
| GenomicStudy.instantiatesUri | |
| Element Id | GenomicStudy.instantiatesUri |
| Definition |
The
|
| Short Display | The URL pointing to an externally maintained protocol that describes the study |
| Cardinality | 0..1 |
|
|
|
| Summary |
|
| GenomicStudy.note | |
| Element Id | GenomicStudy.note |
|
| Comments related to the genomic study. |
| Short Display | Comments related to the genomic study |
| Cardinality |
|
| Type | Annotation |
| Summary | false |
| GenomicStudy.description | |
| Element Id | GenomicStudy.description |
| Definition |
Description
of
the
|
| Short Display |
Description
of
the
|
| Cardinality | 0..1 |
| Type | string |
| Summary | false |
| GenomicStudy.analysis | |
| Element Id | GenomicStudy.analysis |
| Definition |
|
| Short Display | Genomic Analysis Event |
| Cardinality | 0..* |
| Summary | false |
| GenomicStudy.analysis.identifier | |
| Element Id | GenomicStudy.analysis.identifier |
| Definition |
|
| Short Display | Identifiers for the analysis event |
| Note |
This
is
a
business
identifier,
not
a
resource
identifier
(see
discussion
|
| Cardinality | 0..* |
| Type | Identifier |
| Summary | false |
| GenomicStudy.analysis.methodType | |
| Element Id | GenomicStudy.analysis.methodType |
| Definition |
Type
of
|
| Short Display | Type of the methods used in the analysis (e.g., FISH, Karyotyping, MSI) |
| Cardinality | 0..* |
| Terminology Binding | GenomicStudyMethodType ( Example ) |
| Type | CodeableConcept |
| Summary | false |
| GenomicStudy.analysis.changeType | |
| Element Id | GenomicStudy.analysis.changeType |
| Definition |
|
| Short Display | Type of the genomic changes studied in the analysis (e.g., DNA, RNA, or AA change) |
| Cardinality | 0..* |
| Terminology Binding | GenomicStudyChangeType ( Example ) |
| Type | CodeableConcept |
| Summary | false |
| GenomicStudy.analysis.genomeBuild | |
| Element Id | GenomicStudy.analysis.genomeBuild |
| Definition |
The
reference
genome
build
that
|
|
|
|
| Cardinality | 0..1 |
| Terminology Binding |
HumanRefSeqNCBIBuildId
: |
| Type | CodeableConcept |
| Summary | false |
| GenomicStudy.analysis.instantiatesCanonical | |
| Element Id | GenomicStudy.analysis.instantiatesCanonical |
| Definition |
The
defined
protocol
that
describes
the
|
|
|
The
|
| Cardinality | 0..1 |
| Type | canonical ( PlanDefinition | ActivityDefinition ) |
| Summary | false |
| GenomicStudy.analysis.instantiatesUri | |
| Element Id | GenomicStudy.analysis.instantiatesUri |
| Definition | The URL pointing to an externally maintained protocol that describes the analysis. |
| Short Display | The URL pointing to an externally maintained protocol that describes the analysis |
| Cardinality | 0..1 |
| Type | uri |
| Summary | false |
| GenomicStudy.analysis.title | |
| Element Id | GenomicStudy.analysis.title |
| Definition |
Name
of
the
|
| Short Display |
Name
of
the
|
| Cardinality | 0..1 |
| Type | string |
| Summary | false |
| GenomicStudy.analysis.subject | |
| Element Id | GenomicStudy.analysis.subject |
| Definition |
The
subject
of
the
|
|
|
The
|
| Cardinality | 0..1 |
| Type | Reference ( Patient | Group | Device | Location | Organization | Procedure | Practitioner | Medication | Substance | BiologicallyDerivedProduct | NutritionProduct ) |
| Summary | false |
| GenomicStudy.analysis.specimen | |
| Element Id | GenomicStudy.analysis.specimen |
| Definition |
The
specimen
used
in
the
|
| Short Display |
The
specimen
used
in
|
| Cardinality | 0..* |
| Type | Reference ( Specimen ) |
| Summary | false |
| GenomicStudy.analysis.date | |
| Element Id | GenomicStudy.analysis.date |
| Definition | The date of the analysis event. |
| Short Display | The date of the analysis event |
| Cardinality | 0..1 |
| Type | dateTime |
| Summary | false |
| GenomicStudy.analysis.note | |
| Element Id | GenomicStudy.analysis.note |
| Definition | Any notes capture with the analysis event. |
| Short Display | Any notes capture with the analysis event |
| Cardinality | 0..* |
| Type | Annotation |
| Summary | false |
| GenomicStudy.analysis.protocolPerformed | |
| Element Id | GenomicStudy.analysis.protocolPerformed |
| Definition |
The
protocol
that
was
performed
for
the
|
| Short Display |
The
|
| Cardinality | 0..1 |
| Type | Reference ( Procedure | Task ) |
| Summary | false |
| GenomicStudy.analysis.regionsStudied | |
| Element Id | GenomicStudy.analysis.regionsStudied |
| Definition |
The
genomic
regions
to
be
studied
in
the
|
| Short Display | The genomic regions to be studied in the analysis (BED file) |
|
Cardinality
|
0..* |
| Type | Reference ( DocumentReference | Observation ) |
| Summary | false |
| GenomicStudy.analysis.regionsCalled | |
| Element Id | GenomicStudy.analysis.regionsCalled |
| Definition |
Genomic
regions
actually
called
in
the
|
| Short Display |
Genomic
regions
actually
called
in
the
|
| Cardinality | 0..* |
| Type | Reference ( DocumentReference | Observation ) |
| Summary | false |
| GenomicStudy.analysis.input | |
| Element Id | GenomicStudy.analysis.input |
| Definition |
Inputs
for
the
|
| Short Display |
Inputs
for
the
|
|
|
|
| Summary | false |
| GenomicStudy.analysis.input.file | |
| Element Id | GenomicStudy.analysis.input.file |
| Definition | File containing input data. |
| Short Display | File containing input data |
| Cardinality | 0..1 |
| Type | Reference ( DocumentReference ) |
| Summary | false |
| GenomicStudy.analysis.input.type | |
| Element Id | GenomicStudy.analysis.input.type |
| Definition | Type of input data, e.g., BAM, CRAM, or FASTA. |
| Short Display | Type of input data (e.g., BAM, CRAM, or FASTA) |
| Cardinality | 0..1 |
| Terminology Binding | GenomicStudyDataFormat ( Example ) |
| Type | CodeableConcept |
| Summary | false |
| GenomicStudy.analysis.input.generatedBy[x] | |
| Element Id | GenomicStudy.analysis.input.generatedBy[x] |
| Definition | The analysis event or other GenomicStudy that generated this input file. |
| Short Display | The analysis event or other GenomicStudy that generated this input file |
| Cardinality | 0..1 |
| Type | Identifier | Reference ( GenomicStudy ) |
| [x] Note | See Choice of Datatypes for further information about how to use [x] |
| Summary | false |
| GenomicStudy.analysis.output | |
| Element Id | GenomicStudy.analysis.output |
| Definition |
Outputs
for
the
|
| Short Display | Outputs for the analysis event |
| Cardinality | 0..* |
| Summary | false |
| GenomicStudy.analysis.output.file | |
| Element Id | GenomicStudy.analysis.output.file |
| Definition | File containing output data. |
| Short Display | File containing output data |
| Cardinality | 0..1 |
| Type | Reference ( DocumentReference ) |
| Summary | false |
| GenomicStudy.analysis.output.type | |
| Element Id | GenomicStudy.analysis.output.type |
| Definition | Type of output data, e.g., VCF, MAF, or BAM. |
| Short Display | Type of output data (e.g., VCF, MAF, or BAM) |
| Cardinality | 0..1 |
| Terminology Binding | GenomicStudyDataFormat ( Example ) |
| Type | CodeableConcept |
| Summary | false |
| GenomicStudy.analysis.performer | |
| Element Id | GenomicStudy.analysis.performer |
| Definition | Performer for the analysis event. |
| Short Display | Performer for the analysis event |
| Cardinality | 0..* |
| Summary | false |
| GenomicStudy.analysis.performer.actor | |
| Element Id | GenomicStudy.analysis.performer.actor |
| Definition | The organization, healthcare professional, or others who participated in performing this analysis. |
| Short Display | The organization, healthcare professional, or others who participated in performing this analysis |
| Cardinality | 0..1 |
| Type | Reference ( Practitioner | PractitionerRole | Organization | Device ) |
| Summary | false |
| GenomicStudy.analysis.performer.role | |
| Element Id | GenomicStudy.analysis.performer.role |
| Definition | Role of the actor for this analysis. |
| Short Display | Role of the actor for this analysis |
| Cardinality | 0..1 |
| Type | CodeableConcept |
| Summary | false |
| GenomicStudy.analysis.device | |
| Element Id | GenomicStudy.analysis.device |
| Definition | Devices used for the analysis (e.g., instruments, software), with settings and parameters. |
| Short Display | Devices used for the analysis (e.g., instruments, software), with settings and parameters |
| Cardinality | 0..* |
| Summary | false |
| GenomicStudy.analysis.device.device | |
| Element Id | GenomicStudy.analysis.device.device |
| Definition | Device used for the analysis. |
| Short Display | Device used for the analysis |
| Cardinality | 0..1 |
| Type | Reference ( Device ) |
| Summary | false |
| GenomicStudy.analysis.device.function | |
| Element Id | GenomicStudy.analysis.device.function |
| Definition | Specific function for the device used for the analysis. |
| Short Display | Specific function for the device used for the analysis |
| Cardinality | 0..1 |
| Type | CodeableConcept |
| Summary | false |