R6 Ballot (1st Draft)
DiagnosticsThis page is part of the FHIR Specification v6.0.0-ballot1: Release 6 Ballot (1st 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: Patient | Compartments: Patient |
Detailed Descriptions for the elements in the GenomicStudy resource.
| GenomicStudy | |
| Element Id | GenomicStudy |
| Definition | A GenomicStudy is a set of analyses 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. |
| Short Display | Identifiers for this genomic study |
| Note | This is a business identifier, not a resource identifier (see discussion) |
| Cardinality | 0..* |
| Type | Identifier |
| Summary | true |
| GenomicStudy.status | |
| Element Id | GenomicStudy.status |
| Definition | The status of the genomic study. |
| Short Display | registered | available | cancelled | entered-in-error | unknown |
| Cardinality | 1..1 |
| Terminology Binding | Genomic Study Status (Required) |
| Type | code |
| Is Modifier | true (Reason: This element is labeled as a modifier because it is a status element that contains status entered-in-error which means that the resource should not be treated as valid) |
| Summary | true |
| GenomicStudy.type | |
| Element Id | GenomicStudy.type |
| Definition | The type of the study, e.g., Familial variant segregation, Functional variation detection, or Gene expression profiling. |
| Short Display | The type of the study (e.g., Familial variant segregation, Functional variation detection, or Gene expression profiling) |
| Cardinality | 0..* |
| Terminology Binding | Genomic Study Type (Example) |
| Type | CodeableConcept |
| Summary | true |
| GenomicStudy.subject | |
| Element Id | GenomicStudy.subject |
| Definition | The primary subject of the genomic study. |
| Short Display | The primary subject of the genomic study |
| Cardinality | 1..1 |
| Type | Reference(Patient | Group | 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 | true |
| GenomicStudy.startDate | |
| Element Id | GenomicStudy.startDate |
| Definition | When the genomic study was started. |
| Short Display | When the genomic study was started |
| Cardinality | 0..1 |
| Type | dateTime |
| Summary | false |
| GenomicStudy.basedOn | |
| 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 |
| Definition | Why the genomic study was performed. |
| Short Display | Why the genomic study was performed |
| Cardinality | 0..* |
| Type | CodeableReference(Condition | Observation) |
| Summary | false |
| GenomicStudy.instantiatesCanonical | |
| Element Id | GenomicStudy.instantiatesCanonical |
| Definition | The defined protocol that describes the study. |
| Short Display | The defined protocol that describes the study |
| Cardinality | 0..1 |
| Type | canonical(PlanDefinition) |
| Summary | false |
| GenomicStudy.instantiatesUri | |
| Element Id | GenomicStudy.instantiatesUri |
| Definition | The URL pointing to an externally maintained protocol that describes the study. |
| Short Display | The URL pointing to an externally maintained protocol that describes the study |
| Cardinality | 0..1 |
| Type | uri |
| Summary | false |
| GenomicStudy.note | |
| Element Id | GenomicStudy.note |
| Definition | Comments related to the genomic study. |
| Short Display | Comments related to the genomic study |
| Cardinality | 0..* |
| Type | Annotation |
| Summary | false |
| GenomicStudy.description | |
| Element Id | GenomicStudy.description |
| Definition | Description of the genomic study. |
| Short Display | Description of the genomic study |
| Cardinality | 0..1 |
| Type | markdown |
| Summary | false |
| GenomicStudy.analysis | |
| Element Id | GenomicStudy.analysis |
| Definition | The details about a specific analysis that was performed in this GenomicStudy. |
| Short Display | Genomic Analysis Event |
| Cardinality | 0..* |
| Summary | false |
| GenomicStudy.analysis.identifier | |
| Element Id | GenomicStudy.analysis.identifier |
| Definition | Identifiers for the analysis event. |
| Short Display | Identifiers for the analysis event |
| Note | This is a business identifier, not a resource identifier (see discussion) |
| Cardinality | 0..* |
| Type | Identifier |
| Summary | true |
| GenomicStudy.analysis.methodType | |
| Element Id | GenomicStudy.analysis.methodType |
| Definition | Type of the methods used in the analysis, e.g., Fluorescence in situ hybridization (FISH), Karyotyping, or Microsatellite instability testing (MSI). |
| Short Display | Type of the methods used in the analysis (e.g., FISH, Karyotyping, MSI) |
| Cardinality | 0..* |
| Terminology Binding | Genomic Study Method Type (Example) |
| Type | CodeableConcept |
| Summary | true |
| GenomicStudy.analysis.changeType | |
| Element Id | GenomicStudy.analysis.changeType |
| Definition | Type of the genomic changes studied in the analysis, e.g., DNA, RNA, or amino acid change. |
| Short Display | Type of the genomic changes studied in the analysis (e.g., DNA, RNA, or AA change) |
| Cardinality | 0..* |
| Terminology Binding | Genomic Study Change Type (Example) |
| Type | CodeableConcept |
| Summary | false |
| GenomicStudy.analysis.genomeBuild | |
| Element Id | GenomicStudy.analysis.genomeBuild |
| Definition | The reference genome build that is used in this analysis. |
| Short Display | Genome build that is used in this analysis |
| 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 analysis. |
| Short Display | The defined protocol that describes the analysis |
| 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 analysis event (human friendly). |
| Short Display | Name of the analysis event (human friendly) |
| Cardinality | 0..1 |
| Type | string |
| Summary | true |
| GenomicStudy.analysis.focus | |
| Element Id | GenomicStudy.analysis.focus |
| Definition | The focus of a genomic analysis when it is not the patient of record representing something or someone associated with the patient such as a spouse, parent, child, or sibling. For example, in trio testing, the GenomicStudy.subject would be the child (proband) and the GenomicStudy.analysis.focus of a specific analysis would be the parent. |
| Short Display | What the genomic analysis is about, when it is not about the subject of record |
| Cardinality | 0..* |
| Type | Reference(Any) |
| Summary | true |
| Comments | If the focus of the analysis is not known, the value of this field SHALL use the data absent extension. |
| GenomicStudy.analysis.specimen | |
| Element Id | GenomicStudy.analysis.specimen |
| Definition | The specimen used in the analysis event. |
| Short Display | The specimen used in the analysis event |
| Cardinality | 0..* |
| Type | Reference(Specimen) |
| Summary | true |
| 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 analysis event. |
| Short Display | The protocol that was performed for the analysis event |
| 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 analysis (BED file). |
| 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 analysis event (BED file). |
| Short Display | Genomic regions actually called in the analysis event (BED file) |
| Cardinality | 0..* |
| Type | Reference(DocumentReference | Observation) |
| Summary | false |
| GenomicStudy.analysis.input | |
| Element Id | GenomicStudy.analysis.input |
| Definition | Inputs for the analysis event. |
| Short Display | Inputs for the analysis event |
| Cardinality | 0..* |
| 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 | true |
| 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 | Genomic Study Data Format (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 analysis event. |
| 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 | true |
| 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 | Genomic Study Data Format (Example) |
| Type | CodeableConcept |
| Summary | true |
| 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 |
FHIR ®© HL7.org 2011+. FHIR R6 hl7.fhir.core#6.0.0-ballot1 generated on Mon, Dec 18, 2023 15:17+1100.
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