genomic-study-analysis-regions
type: StructureDefinition
node role: treeRoot
id:
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text:
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    v: Generated Narrative: StructureDefinition genomic-study-analysis-regions Name Flags Card. Type Description & Constraints<img src="[binary]" alt="doco" style="background-color: inherit"/> Extension 0..* Extension Genomic Study Analysis Regions #xD; Slices for extension Content/Rules for all slices #xD; extension:description 0..1 Extension Regions Studied Description #xD; extension 0..0 Extension #xD; url 1..1 uri "description" #xD; value[x] 0..1 string Value of extension #xD; extension:studied 0..* Extension Genes or Regions Studied (GenomicStudy.analysis.regionsStudied) #xD; extension 0..0 Extension #xD; url 1..1 uri "studied" #xD; value[x] 1..1 Gene codes or BED file Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible) #xD; valueCodeableConcept CodeableConcept #xD; valueReference Reference(Genomic Data File) #xD; extension:called 0..* Extension Genes or Regions Called (GenomicStudy.analysis.regionsCalled) #xD; extension 0..0 Extension #xD; url 1..1 uri "called" #xD; value[x] 1..1 Gene codes or BED file Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible) #xD; valueCodeableConcept CodeableConcept #xD; valueReference Reference(Genomic Data File) #xD; extension:uncalled 0..* Extension Genes or Regions Uncalled #xD; extension 0..0 Extension #xD; url 1..1 uri "uncalled" #xD; value[x] 1..1 Gene codes or BED file Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible) #xD; valueCodeableConcept CodeableConcept #xD; valueReference Reference(Genomic Data File) #xD; url 1..1 uri "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions" #xD; value[x] 0..0 Value of extension #xD; <img src="[binary]" alt="doco" style="background-color: inherit"/> Documentation for this format
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name:
  v: GenomicStudyAnalysisRegions
title:
  v: Genomic Study Analysis Regions
status:
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date:
  v: 2025-11-08T00:09:50+00:00
publisher:
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contact:
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  v: Defines the regions studied, regions called, and regions deemed uncallable (generally due to low coverage)
jurisdiction:
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  key:
    v: ext-1
  severity:
    v: error
  human:
    v: Must have either extensions or value[x], not both
  expression:
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  xpath:
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is summary:
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id:
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path:
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representation:
  v: xmlAttr
short:
  v: identifies the meaning of the extension
definition:
  v: Source of the definition for the extension code - a logical name or a URL.
comment:
  v: 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.
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max:
  v: 1
base:
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    v: Extension.url
  min:
    v: 1
  max:
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      l: structuredefinition-fhir-type
    value: Url
      v: uri
      l: uri
  code:
    v: http://hl7.org/fhirpath/System.String
    l: System.String
fixed: Uri
  v: called
  l: called
is modifier:
  v: false
is summary:
  v: false
mapping:
  identity:
    v: rim
  map:
    v: N/A

id:
  v: Extension.extension:called.value[x]
path:
  v: Extension.extension.value[x]
short:
  v: Gene codes or BED file
definition:
  v: Value of extension - must be one of a constrained set of the data types (see [Extensibility](http://hl7.org/fhir/R4/extensibility.html) for a list).
min:
  v: 1
max:
  v: 1
base:
  path:
    v: Extension.value[x]
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  max:
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type:
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    l: CodeableConcept
type:
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    l: Reference
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binding:
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  value set:
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mapping:
  identity:
    v: rim
  map:
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path:
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  v: uncalled
short:
  v: Genes or Regions Uncalled
definition:
  v: The genes or regions that were studied for the analysis but were deemed uncallable.
requirements:
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max:
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  xpath:
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  source:
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    v: Must have either extensions or value[x], not both
  expression:
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  xpath:
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is summary:
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id:
  v: Extension.extension:uncalled.id
path:
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representation:
  v: xmlAttr
short:
  v: Unique id for inter-element referencing
definition:
  v: Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.
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max:
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base:
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    v: Element.id
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      v: http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type
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mapping:
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  map:
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    path:
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definition:
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  expression:
    v: hasValue() or (children().count() > id.count())
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  source:
    v: http://hl7.org/fhir/StructureDefinition/Element
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  key:
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  severity:
    v: error
  human:
    v: Must have either extensions or value[x], not both
  expression:
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  source:
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is summary:
  v: false

id:
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path:
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representation:
  v: xmlAttr
short:
  v: identifies the meaning of the extension
definition:
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comment:
  v: 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.
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base:
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  min:
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  v: uncalled
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is modifier:
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is summary:
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mapping:
  identity:
    v: rim
  map:
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id:
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path:
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short:
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definition:
  v: Value of extension - must be one of a constrained set of the data types (see [Extensibility](http://hl7.org/fhir/R4/extensibility.html) for a list).
min:
  v: 1
max:
  v: 1
base:
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  min:
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type:
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    l: CodeableConcept
type:
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constraint:
  key:
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  severity:
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  human:
    v: All FHIR elements must have a @value or children
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  source:
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binding:
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mapping:
  identity:
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  map:
    v: N/A

id:
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path:
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representation:
  v: xmlAttr
short:
  v: identifies the meaning of the extension
definition:
  v: Source of the definition for the extension code - a logical name or a URL.
comment:
  v: 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.
min:
  v: 1
max:
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base:
  path:
    v: Extension.url
  min:
    v: 1
  max:
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type:
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is modifier:
  v: false
is summary:
  v: false
mapping:
  identity:
    v: rim
  map:
    v: N/A

id:
  v: Extension.value[x]
path:
  v: Extension.value[x]
short:
  v: Value of extension
definition:
  v: Value of extension - must be one of a constrained set of the data types (see [Extensibility](http://hl7.org/fhir/R4/extensibility.html) for a list).
min:
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max:
  v: 0
base:
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    v: Extension.value[x]
  min:
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    v: 1
type:
  code:
    v: base64Binary
    l: base64Binary
type:
  code:
    v: boolean
    l: boolean
type:
  code:
    v: canonical
    l: canonical
type:
  code:
    v: code
    l: code
type:
  code:
    v: date
    l: date
type:
  code:
    v: dateTime
    l: dateTime
type:
  code:
    v: decimal
    l: decimal
type:
  code:
    v: id
    l: id
type:
  code:
    v: instant
    l: instant
type:
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    v: integer
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type:
  code:
    v: markdown
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type:
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    v: oid
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    l: positiveInt
type:
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    v: string
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type:
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    v: time
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type:
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    v: unsignedInt
    l: unsignedInt
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    v: HumanName
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  code:
    v: Money
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type:
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type:
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code:
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code:
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code:
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code:
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key:
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human:
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expression:
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xpath:
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source:
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v: false

v: false

identity:
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map:
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element:
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  path:
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  short:
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    v: Defines the regions studied, regions called, and regions deemed uncallable (generally due to low coverage)
element:
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  path:
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element:
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element:
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element:
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  definition:
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    v: Shared as a coded list of HGNC gene symbols or a BED file. For coded genes, the HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. If details beyond a coded list of genes are needed, a BED file SHALL be used to further describe the regions studied in the analysis.
  min:
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  max:
    v: *
element:
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element:
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element:
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  requirements:
    v: Shared as a coded list of HGNC gene symbols or a BED file. For coded genes, the HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. If details beyond a coded list of genes are needed, a BED file SHALL be used to further describe the regions deemed callable.
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    v: *
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element:
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element:
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element:
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v: Gene codes or BED file

v: 1

code:
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code:
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target profile:
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strength:
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value set:
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id:
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path:
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fixed: Uri
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