http://hl7.org/fhir/StructureDefinition/GenomicStudy|5.0.0

description: A set of analyses performed to analyze and generate genomic data.
derivation: specialization
name: GenomicStudy
type: GenomicStudy
elements:
  description: {isModifier: false, short: Description of the genomic study, mustSupport: false, isSummary: false, index: 13}
  instantiatesCanonical: {isModifier: false, short: The defined protocol that describes the study, mustSupport: false, isSummary: false, index: 10}
  instantiatesUri: {isModifier: false, short: The URL pointing to an externally maintained protocol that describes the study, mustSupport: false, isSummary: false, index: 11}
  interpreter: {isModifier: false, short: Healthcare professionals who interpreted the genomic study, mustSupport: false, array: true, isSummary: false, index: 8}
  encounter: {isModifier: false, short: The healthcare event with which this genomics study is associated, mustSupport: false, isSummary: true, index: 4}
  startDate: {isModifier: false, short: When the genomic study was started, mustSupport: false, isSummary: false, index: 5}
  type:
    isModifier: false
    short: The type of the study (e.g., Familial variant segregation, Functional variation detection, or Gene expression profiling)
    mustSupport: false
    array: true
    binding: {strength: example, valueSet: 'http://hl7.org/fhir/ValueSet/genomicstudy-type'}
    isSummary: true
    index: 2
  note: {isModifier: false, short: Comments related to the genomic study, mustSupport: false, array: true, isSummary: false, index: 12}
  reason: {isModifier: false, short: Why the genomic study was performed, mustSupport: false, array: true, isSummary: false, index: 9}
  referrer: {isModifier: false, short: Healthcare professional who requested or referred the genomic study, mustSupport: false, isSummary: false, index: 7}
  analysis:
    isModifier: false
    short: Genomic Analysis Event
    mustSupport: false
    array: true
    isSummary: false
    index: 14
    elements:
      regionsStudied: {isModifier: false, short: The genomic regions to be studied in the analysis (BED file), mustSupport: false, array: true, isSummary: false, index: 27}
      date: {isModifier: false, short: The date of the analysis event, mustSupport: false, isSummary: false, index: 24}
      instantiatesCanonical: {isModifier: false, short: The defined protocol that describes the analysis, mustSupport: false, isSummary: false, index: 19}
      instantiatesUri: {isModifier: false, short: The URL pointing to an externally maintained protocol that describes the analysis, mustSupport: false, isSummary: false, index: 20}
      specimen: {isModifier: false, short: The specimen used in the analysis event, mustSupport: false, array: true, isSummary: true, index: 23}
      genomeBuild:
        isModifier: false
        short: Genome build that is used in this analysis
        mustSupport: false
        binding: {strength: extensible, valueSet: 'http://loinc.org/vs/LL1040-6'}
        isSummary: false
        index: 18
      output:
        isModifier: false
        short: Outputs for the analysis event
        mustSupport: false
        array: true
        isSummary: false
        index: 34
        elements:
          file: {isModifier: false, short: File containing output data, mustSupport: false, isSummary: true, index: 35}
          type:
            isModifier: false
            short: Type of output data (e.g., VCF, MAF, or BAM)
            mustSupport: false
            binding: {strength: example, valueSet: 'http://hl7.org/fhir/ValueSet/genomicstudy-dataformat'}
            isSummary: true
            index: 36
      title: {isModifier: false, short: Name of the analysis event (human friendly), mustSupport: false, isSummary: true, index: 21}
      note: {isModifier: false, short: Any notes capture with the analysis event, mustSupport: false, array: true, isSummary: false, index: 25}
      identifier: {isModifier: false, short: Identifiers for the analysis event, mustSupport: false, array: true, isSummary: true, index: 15}
      focus: {isModifier: false, short: 'What the genomic analysis is about, when it is not about the subject of record', mustSupport: false, array: true, isSummary: true, index: 22}
      device:
        isModifier: false
        short: Devices used for the analysis (e.g., instruments, software), with settings and parameters
        mustSupport: false
        array: true
        isSummary: false
        index: 40
        elements:
          device: {isModifier: false, short: Device used for the analysis, mustSupport: false, isSummary: false, index: 41}
          function: {isModifier: false, short: Specific function for the device used for the analysis, mustSupport: false, isSummary: false, index: 42}
      changeType:
        isModifier: false
        short: Type of the genomic changes studied in the analysis (e.g., DNA, RNA, or AA change)
        mustSupport: false
        array: true
        binding: {strength: example, valueSet: 'http://hl7.org/fhir/ValueSet/genomicstudy-changetype'}
        isSummary: false
        index: 17
      input:
        isModifier: false
        short: Inputs for the analysis event
        mustSupport: false
        array: true
        isSummary: false
        index: 29
        elements:
          file: {isModifier: false, short: File containing input data, mustSupport: false, isSummary: true, index: 30}
          type:
            isModifier: false
            short: Type of input data (e.g., BAM, CRAM, or FASTA)
            mustSupport: false
            binding: {strength: example, valueSet: 'http://hl7.org/fhir/ValueSet/genomicstudy-dataformat'}
            isSummary: false
            index: 31
          generatedBy:
            isModifier: false
            short: The analysis event or other GenomicStudy that generated this input file
            mustSupport: false
            choices: []
            isSummary: false
            index: 33
      protocolPerformed: {isModifier: false, short: The protocol that was performed for the analysis event, mustSupport: false, isSummary: false, index: 26}
      methodType:
        isModifier: false
        short: Type of the methods used in the analysis (e.g., FISH, Karyotyping, MSI)
        mustSupport: false
        array: true
        binding: {strength: example, valueSet: 'http://hl7.org/fhir/ValueSet/genomicstudy-methodtype'}
        isSummary: true
        index: 16
      regionsCalled: {isModifier: false, short: Genomic regions actually called in the analysis event (BED file), mustSupport: false, array: true, isSummary: false, index: 28}
      performer:
        isModifier: false
        short: Performer for the analysis event
        mustSupport: false
        array: true
        isSummary: false
        index: 37
        elements:
          actor: {isModifier: false, short: 'The organization, healthcare professional, or others who participated in performing this analysis', mustSupport: false, isSummary: false, index: 38}
          role: {isModifier: false, short: Role of the actor for this analysis, mustSupport: false, isSummary: false, index: 39}
  status:
    isModifier: true
    short: registered | available | cancelled | entered-in-error | unknown
    mustSupport: false
    binding: {strength: required, valueSet: 'http://hl7.org/fhir/ValueSet/genomicstudy-status|5.0.0'}
    isModifierReason: 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
    isSummary: true
    index: 1
  identifier: {isModifier: false, short: Identifiers for this genomic study, mustSupport: false, array: true, isSummary: true, index: 0}
  basedOn: {isModifier: false, short: Event resources that the genomic study is based on, mustSupport: false, array: true, isSummary: false, index: 6}
  subject: {isModifier: false, short: The primary subject of the genomic study, mustSupport: false, isSummary: true, index: 3}
class: resource
kind: resource
url: http://hl7.org/fhir/StructureDefinition/GenomicStudy
base: http://hl7.org/fhir/StructureDefinition/DomainResource
version: 5.0.0
required: [status, subject]