Generated Narrative: StructureDefinition genomic-study-analysis-regions Name Flags Card. Type Description & Constraints 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; Documentation for this format
Defines the regions studied, regions called, and regions deemed uncallable (generally due to low coverage)
All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count())
Must have either extensions or value[x], not both
exists(f:extension)!=exists(f:*[starts-with(local-name(.), 'value')])
Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.
Extensions are always sliced by (at least) url
Additional content defined by implementations
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.
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.
exists(f:extension)!=exists(f:*[starts-with(local-name(.), "value")])
Freetext description of the regions studied for the sequencing test
Source of the definition for the extension code - a logical name or a URL.
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.
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).
Genes or Regions Studied (GenomicStudy.analysis.regionsStudied)
The genes or regions that were studied in the analysis.
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.
Genes or Regions Called (GenomicStudy.analysis.regionsCalled)
The genes or regions that were studied for the analysis with sufficient coverage and quality to be called.
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.
The genes or regions that were studied for the analysis but were deemed uncallable.
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 uncallable.