Genomics Reporting Implementation Guide
3.0.0 - STU3 International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

Extension: GenomicStudyAnalysisOutput - Detailed Descriptions

Active as of 2024-12-12

Definitions for the genomic-study-analysis-output extension.

Guidance on how to interpret the contents of this table can be found here

0. Extension
Definition

Genomic Study Analysis Output

ShortGenomic Study Analysis Output
2. Extension.extension:file
Slice Namefile
ShortGenomicStudy.analysis.output.file
Control0..1
4. Extension.extension:file.extension
Control0..0
6. Extension.extension:file.url
Fixed Valuefile
8. Extension.extension:file.value[x]
TypeReference(Genomic Data File)
[x] NoteSeeChoice of Data Typesfor further information about how to use [x]
10. Extension.extension:type
Slice Nametype
ShortGenomicStudy.analysis.output.type
Control0..1
12. Extension.extension:type.extension
Control0..0
14. Extension.extension:type.url
Fixed Valuetype
16. Extension.extension:type.value[x]
Shortbam | bed | vcf | ... (many)
BindingThe codes SHOULD be taken from Genomic Study Data Format ValueSet
(preferred to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/genomic-study-data-format-vs)
TypeCodeableConcept
[x] NoteSeeChoice of Data Typesfor further information about how to use [x]
18. Extension.url
Fixed Valuehttp://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-output
20. Extension.value[x]
Control0..0

Guidance on how to interpret the contents of this table can be found here

0. Extension
Definition

Genomic Study Analysis Output


Optional Extension Element - found in all resources.

ShortGenomic Study Analysis OutputOptional Extensions Element
Control0..*
This element is affected by the following invariants: ele-1
Is Modifierfalse
Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
2. Extension.extension:file
Slice Namefile
Definition

An Extension

ShortGenomicStudy.analysis.output.fileAdditional content defined by implementations
Control0..1*
TypeExtension
Is Modifierfalse
Summaryfalse
Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
4. Extension.extension:file.extension
Definition

An Extension


May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

ShortExtensionAdditional content defined by implementations
Comments

There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

Control0..0*
TypeExtension
Is Modifierfalse
Summaryfalse
Alternate Namesextensions, user content
Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
SlicingThis element introduces a set of slices on Extension.extension.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
  • value @ url
  • 6. Extension.extension:file.url
    Definition

    Source of the definition for the extension code - a logical name or a URL.

    Shortidentifies the meaning of the extension
    Comments

    The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension.

    Control1..1
    Typeuri
    Is Modifierfalse
    XML FormatIn the XML format, this property is represented as an attribute.
    Summaryfalse
    Fixed Valuefile
    8. Extension.extension:file.value[x]
    Definition

    Value of extension - must be one of a constrained set of the data types (see Extensibility for a list).

    ShortValue of extension
    Control0..1
    TypeReference(Genomic Data File), date, Meta, Address, Attachment, integer, Count, DataRequirement, Dosage, uuid, Identifier, Coding, SampledData, id, positiveInt, Distance, Period, Duration, canonical, Range, RelatedArtifact, base64Binary, UsageContext, Timing, decimal, CodeableConcept, ParameterDefinition, dateTime, code, string, Contributor, oid, instant, ContactPoint, HumanName, Money, markdown, Ratio, Age, TriggerDefinition, Quantity, uri, url, Annotation, ContactDetail, boolean, Expression, Signature, unsignedInt, time
    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
    Is Modifierfalse
    Summaryfalse
    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
    10. Extension.extension:type
    Slice Nametype
    Definition

    An Extension

    ShortGenomicStudy.analysis.output.typeAdditional content defined by implementations
    Control0..1*
    TypeExtension
    Is Modifierfalse
    Summaryfalse
    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
    ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
    12. Extension.extension:type.extension
    Definition

    An Extension


    May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

    ShortExtensionAdditional content defined by implementations
    Comments

    There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

    Control0..0*
    TypeExtension
    Is Modifierfalse
    Summaryfalse
    Alternate Namesextensions, user content
    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
    ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
    SlicingThis element introduces a set of slices on Extension.extension.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
    • value @ url
    • 14. Extension.extension:type.url
      Definition

      Source of the definition for the extension code - a logical name or a URL.

      Shortidentifies the meaning of the extension
      Comments

      The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension.

      Control1..1
      Typeuri
      Is Modifierfalse
      XML FormatIn the XML format, this property is represented as an attribute.
      Summaryfalse
      Fixed Valuetype
      16. Extension.extension:type.value[x]
      Definition

      Value of extension - must be one of a constrained set of the data types (see Extensibility for a list).

      Shortbam | bed | vcf | ... (many)Value of extension
      Control0..1
      BindingThe codes SHOULD be taken from For codes, see Genomic Study Data Format ValueSet
      (preferred to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/genomic-study-data-format-vs)
      TypeCodeableConcept, date, Meta, Address, Attachment, integer, Count, DataRequirement, Dosage, uuid, Identifier, Coding, SampledData, id, positiveInt, Distance, Period, Duration, canonical, Range, RelatedArtifact, base64Binary, UsageContext, Timing, decimal, ParameterDefinition, dateTime, code, string, Contributor, oid, instant, ContactPoint, HumanName, Money, markdown, Ratio, Age, Reference, TriggerDefinition, Quantity, uri, url, Annotation, ContactDetail, boolean, Expression, Signature, unsignedInt, time
      [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
      Is Modifierfalse
      Summaryfalse
      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      18. Extension.url
      Definition

      Source of the definition for the extension code - a logical name or a URL.

      Shortidentifies the meaning of the extension
      Comments

      The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension.

      Control1..1
      Typeuri
      Is Modifierfalse
      XML FormatIn the XML format, this property is represented as an attribute.
      Summaryfalse
      Fixed Valuehttp://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-output
      20. Extension.value[x]
      Definition

      Value of extension - must be one of a constrained set of the data types (see Extensibility for a list).

      ShortValue of extension
      Control0..01
      TypeChoice of: base64Binary, boolean, canonical, code, date, dateTime, decimal, id, instant, integer, markdown, oid, positiveInt, string, time, unsignedInt, uri, url, uuid, Address, Age, Annotation, Attachment, CodeableConcept, Coding, ContactPoint, Count, Distance, Duration, HumanName, Identifier, Money, Period, Quantity, Range, Ratio, Reference, SampledData, Signature, Timing, ContactDetail, Contributor, DataRequirement, Expression, ParameterDefinition, RelatedArtifact, TriggerDefinition, UsageContext, Dosage, Meta
      Is Modifierfalse
      Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
      Summaryfalse
      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))

      Guidance on how to interpret the contents of this table can be found here

      0. Extension
      Definition

      Genomic Study Analysis Output

      ShortGenomic Study Analysis Output
      Control0..*
      This element is affected by the following invariants: ele-1
      Is Modifierfalse
      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
      2. Extension.id
      Definition

      Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

      ShortUnique id for inter-element referencing
      Control0..1
      Typestring
      Is Modifierfalse
      XML FormatIn the XML format, this property is represented as an attribute.
      Summaryfalse
      4. Extension.extension
      Definition

      May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

      ShortAdditional content defined by implementations
      Comments

      There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

      Control0..*
      TypeExtension
      Is Modifierfalse
      Summaryfalse
      Alternate Namesextensions, user content
      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
      SlicingThis element introduces a set of slices on Extension.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
      • value @ url
      • 6. Extension.extension:file
        Slice Namefile
        Definition

        An Extension

        ShortGenomicStudy.analysis.output.file
        Control0..1
        TypeExtension
        Is Modifierfalse
        Summaryfalse
        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
        8. Extension.extension:file.id
        Definition

        Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

        ShortUnique id for inter-element referencing
        Control0..1
        Typestring
        Is Modifierfalse
        XML FormatIn the XML format, this property is represented as an attribute.
        Summaryfalse
        10. Extension.extension:file.extension
        Definition

        An Extension

        ShortExtension
        Control0..0
        TypeExtension
        Is Modifierfalse
        Summaryfalse
        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
        SlicingThis element introduces a set of slices on Extension.extension.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
        • value @ url
        • 12. Extension.extension:file.url
          Definition

          Source of the definition for the extension code - a logical name or a URL.

          Shortidentifies the meaning of the extension
          Comments

          The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension.

          Control1..1
          Typeuri
          Is Modifierfalse
          XML FormatIn the XML format, this property is represented as an attribute.
          Summaryfalse
          Fixed Valuefile
          14. Extension.extension:file.value[x]
          Definition

          Value of extension - must be one of a constrained set of the data types (see Extensibility for a list).

          ShortValue of extension
          Control0..1
          TypeReference(Genomic Data File)
          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
          Is Modifierfalse
          Summaryfalse
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          16. Extension.extension:type
          Slice Nametype
          Definition

          An Extension

          ShortGenomicStudy.analysis.output.type
          Control0..1
          TypeExtension
          Is Modifierfalse
          Summaryfalse
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          18. Extension.extension:type.id
          Definition

          Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

          ShortUnique id for inter-element referencing
          Control0..1
          Typestring
          Is Modifierfalse
          XML FormatIn the XML format, this property is represented as an attribute.
          Summaryfalse
          20. Extension.extension:type.extension
          Definition

          An Extension

          ShortExtension
          Control0..0
          TypeExtension
          Is Modifierfalse
          Summaryfalse
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          SlicingThis element introduces a set of slices on Extension.extension.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
          • value @ url
          • 22. Extension.extension:type.url
            Definition

            Source of the definition for the extension code - a logical name or a URL.

            Shortidentifies the meaning of the extension
            Comments

            The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension.

            Control1..1
            Typeuri
            Is Modifierfalse
            XML FormatIn the XML format, this property is represented as an attribute.
            Summaryfalse
            Fixed Valuetype
            24. Extension.extension:type.value[x]
            Definition

            Value of extension - must be one of a constrained set of the data types (see Extensibility for a list).

            Shortbam | bed | vcf | ... (many)
            Control0..1
            BindingThe codes SHOULD be taken from Genomic Study Data Format ValueSet
            (preferred to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/genomic-study-data-format-vs)
            TypeCodeableConcept
            [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
            Is Modifierfalse
            Summaryfalse
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            26. Extension.url
            Definition

            Source of the definition for the extension code - a logical name or a URL.

            Shortidentifies the meaning of the extension
            Comments

            The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension.

            Control1..1
            Typeuri
            Is Modifierfalse
            XML FormatIn the XML format, this property is represented as an attribute.
            Summaryfalse
            Fixed Valuehttp://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-output
            28. Extension.value[x]
            Definition

            Value of extension - must be one of a constrained set of the data types (see Extensibility for a list).

            ShortValue of extension
            Control0..0
            TypeChoice of: base64Binary, boolean, canonical, code, date, dateTime, decimal, id, instant, integer, markdown, oid, positiveInt, string, time, unsignedInt, uri, url, uuid, Address, Age, Annotation, Attachment, CodeableConcept, Coding, ContactPoint, Count, Distance, Duration, HumanName, Identifier, Money, Period, Quantity, Range, Ratio, Reference, SampledData, Signature, Timing, ContactDetail, Contributor, DataRequirement, Expression, ParameterDefinition, RelatedArtifact, TriggerDefinition, UsageContext, Dosage, Meta
            Is Modifierfalse
            Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
            Summaryfalse
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))