Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot
Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot
Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT 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
| Active as of 2024-04-09 |
Definitions for the genomic-study-analysis-regions extension.
Guidance on how to interpret the contents of this table can be found here
| 0. Extension | |
| Definition | Defines the regions studied, regions called, and regions deemed uncallable (generally due to low coverage) |
| Short | Genomic Study Analysis Regions |
| 2. Extension.extension:description | |
| Slice Name | description |
| Definition | Freetext description of the regions studied for the sequencing test |
| Short | Regions Studied Description |
| Control | 0..1 |
| 4. Extension.extension:description.extension | |
| Control | 0..0 |
| 6. Extension.extension:description.url | |
| Fixed Value | description |
| 8. Extension.extension:description.value[x] | |
| Type | string |
| [x] Note | See Choice of Data Types for further information about how to use [x] |
| Primitive Value | This primitive element may be present, or absent, or replaced by an extension |
| 10. Extension.extension:studied | |
| Slice Name | studied |
| Definition | The genes or regions that were studied in the analysis. |
| Short | Genes or Regions Studied (GenomicStudy.analysis.regionsStudied) |
| Control | 0..* |
| Requirements | 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. |
| 12. Extension.extension:studied.extension | |
| Control | 0..0 |
| 14. Extension.extension:studied.url | |
| Fixed Value | studied |
| 16. Extension.extension:studied.value[x] | |
| Short | Gene codes or BED file |
| Control | 1..? |
| Binding | Unless not suitable, these codes SHALL be taken from HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs) |
| Type | Choice of: CodeableConcept, Reference(Genomic Data File) |
| [x] Note | See Choice of Data Types for further information about how to use [x] |
| 18. Extension.extension:called | |
| Slice Name | called |
| Definition | The genes or regions that were studied for the analysis with sufficient coverage and quality to be called. |
| Short | Genes or Regions Called (GenomicStudy.analysis.regionsCalled) |
| Control | 0..* |
| Requirements | 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. |
| 20. Extension.extension:called.extension | |
| Control | 0..0 |
| 22. Extension.extension:called.url | |
| Fixed Value | called |
| 24. Extension.extension:called.value[x] | |
| Short | Gene codes or BED file |
| Control | 1..? |
| Binding | Unless not suitable, these codes SHALL be taken from HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs) |
| Type | Choice of: CodeableConcept, Reference(Genomic Data File) |
| [x] Note | See Choice of Data Types for further information about how to use [x] |
| 26. Extension.extension:uncalled | |
| Slice Name | uncalled |
| Definition | The genes or regions that were studied for the analysis but were deemed uncallable. |
| Short | Genes or Regions Uncalled |
| Control | 0..* |
| Requirements | 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. |
| 28. Extension.extension:uncalled.extension | |
| Control | 0..0 |
| 30. Extension.extension:uncalled.url | |
| Fixed Value | uncalled |
| 32. Extension.extension:uncalled.value[x] | |
| Short | Gene codes or BED file |
| Control | 1..? |
| Binding | Unless not suitable, these codes SHALL be taken from HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs) |
| Type | Choice of: CodeableConcept, Reference(Genomic Data File) |
| [x] Note | See Choice of Data Types for further information about how to use [x] |
| 34. Extension.url | |
| Fixed Value | http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions |
| 36. Extension.value[x] | |
| Control | 0..0 |
Guidance on how to interpret the contents of this table can be found here
| 0. Extension | |
| Definition | Defines the regions studied, regions called, and regions deemed uncallable (generally due to low coverage) Optional Extension Element - found in all resources. |
| Short | Genomic Study Analysis RegionsOptional Extensions Element |
| Control | 0..* This element is affected by the following invariants: ele-1 |
| Is Modifier | false |
| Invariants | ele-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:description | |
| Slice Name | description |
| Definition | Freetext description of the regions studied for the sequencing test |
| Short | Regions Studied DescriptionAdditional content defined by implementations |
| Control | 0..1* |
| Type | Extension |
| Is Modifier | false |
| Summary | false |
| Invariants | ele-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:description.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. |
| Short | ExtensionAdditional 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. |
| Control | 0..0* |
| Type | Extension |
| Is Modifier | false |
| Summary | false |
| Alternate Names | extensions, user content |
| Invariants | ele-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()) |
| Slicing | This element introduces a set of slices on Extension.extension.extension. The slices are unordered and Open, and can be differentiated using the following discriminators: |
| 6. Extension.extension:description.url | |
| Definition | Source of the definition for the extension code - a logical name or a URL. |
| Short | identifies 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. |
| Control | 1..1 |
| Type | uri |
| Is Modifier | false |
| XML Format | In the XML format, this property is represented as an attribute. |
| Summary | false |
| Fixed Value | description |
| 8. Extension.extension:description.value[x] | |
| Definition | Value of extension - must be one of a constrained set of the data types (see Extensibility for a list). |
| Short | Value of extension |
| Control | 0..1 |
| Type | string, 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, Contributor, oid, instant, ContactPoint, HumanName, Money, markdown, Ratio, Age, Reference, TriggerDefinition, Quantity, uri, url, Annotation, ContactDetail, boolean, Expression, Signature, unsignedInt, time |
| [x] Note | See Choice of Data Types for further information about how to use [x] |
| Is Modifier | false |
| Primitive Value | This primitive element may be present, or absent, or replaced by an extension |
| Summary | false |
| Invariants | ele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count())) |
| 10. Extension.extension:studied | |
| Slice Name | studied |
| Definition | The genes or regions that were studied in the analysis. |
| Short | Genes or Regions Studied (GenomicStudy.analysis.regionsStudied)Additional content defined by implementations |
| Control | 0..* |
| Type | Extension |
| Is Modifier | false |
| Summary | false |
| Requirements | 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. |
| Invariants | ele-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:studied.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. |
| Short | ExtensionAdditional 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. |
| Control | 0..0* |
| Type | Extension |
| Is Modifier | false |
| Summary | false |
| Alternate Names | extensions, user content |
| Invariants | ele-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()) |
| Slicing | This element introduces a set of slices on Extension.extension.extension. The slices are unordered and Open, and can be differentiated using the following discriminators: |
| 14. Extension.extension:studied.url | |
| Definition | Source of the definition for the extension code - a logical name or a URL. |
| Short | identifies 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. |
| Control | 1..1 |
| Type | uri |
| Is Modifier | false |
| XML Format | In the XML format, this property is represented as an attribute. |
| Summary | false |
| Fixed Value | studied |
| 16. Extension.extension:studied.value[x] | |
| Definition | Value of extension - must be one of a constrained set of the data types (see Extensibility for a list). |
| Short | Gene codes or BED fileValue of extension |
| Control | 10..1 |
| Binding | Unless not suitable, these codes SHALL be taken from For codes, see HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs) |
| Type | Choice of: CodeableConcept, Reference(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, 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] Note | See Choice of Data Types for further information about how to use [x] |
| Is Modifier | false |
| Summary | false |
| Invariants | ele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count())) |
| 18. Extension.extension:called | |
| Slice Name | called |
| Definition | The genes or regions that were studied for the analysis with sufficient coverage and quality to be called. |
| Short | Genes or Regions Called (GenomicStudy.analysis.regionsCalled)Additional content defined by implementations |
| Control | 0..* |
| Type | Extension |
| Is Modifier | false |
| Summary | false |
| Requirements | 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. |
| Invariants | ele-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()) |
| 20. Extension.extension:called.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. |
| Short | ExtensionAdditional 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. |
| Control | 0..0* |
| Type | Extension |
| Is Modifier | false |
| Summary | false |
| Alternate Names | extensions, user content |
| Invariants | ele-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()) |
| Slicing | This element introduces a set of slices on Extension.extension.extension. The slices are unordered and Open, and can be differentiated using the following discriminators: |
| 22. Extension.extension:called.url | |
| Definition | Source of the definition for the extension code - a logical name or a URL. |
| Short | identifies 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. |
| Control | 1..1 |
| Type | uri |
| Is Modifier | false |
| XML Format | In the XML format, this property is represented as an attribute. |
| Summary | false |
| Fixed Value | called |
| 24. Extension.extension:called.value[x] | |
| Definition | Value of extension - must be one of a constrained set of the data types (see Extensibility for a list). |
| Short | Gene codes or BED fileValue of extension |
| Control | 10..1 |
| Binding | Unless not suitable, these codes SHALL be taken from For codes, see HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs) |
| Type | Choice of: CodeableConcept, Reference(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, 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] Note | See Choice of Data Types for further information about how to use [x] |
| Is Modifier | false |
| Summary | false |
| Invariants | ele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count())) |
| 26. Extension.extension:uncalled | |
| Slice Name | uncalled |
| Definition | The genes or regions that were studied for the analysis but were deemed uncallable. |
| Short | Genes or Regions UncalledAdditional content defined by implementations |
| Control | 0..* |
| Type | Extension |
| Is Modifier | false |
| Summary | false |
| Requirements | 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. |
| Invariants | ele-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()) |
| 28. Extension.extension:uncalled.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. |
| Short | ExtensionAdditional 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. |
| Control | 0..0* |
| Type | Extension |
| Is Modifier | false |
| Summary | false |
| Alternate Names | extensions, user content |
| Invariants | ele-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()) |
| Slicing | This element introduces a set of slices on Extension.extension.extension. The slices are unordered and Open, and can be differentiated using the following discriminators: |
| 30. Extension.extension:uncalled.url | |
| Definition | Source of the definition for the extension code - a logical name or a URL. |
| Short | identifies 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. |
| Control | 1..1 |
| Type | uri |
| Is Modifier | false |
| XML Format | In the XML format, this property is represented as an attribute. |
| Summary | false |
| Fixed Value | uncalled |
| 32. Extension.extension:uncalled.value[x] | |
| Definition | Value of extension - must be one of a constrained set of the data types (see Extensibility for a list). |
| Short | Gene codes or BED fileValue of extension |
| Control | 10..1 |
| Binding | Unless not suitable, these codes SHALL be taken from For codes, see HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs) |
| Type | Choice of: CodeableConcept, Reference(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, 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] Note | See Choice of Data Types for further information about how to use [x] |
| Is Modifier | false |
| Summary | false |
| Invariants | ele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count())) |
| 34. Extension.url | |
| Definition | Source of the definition for the extension code - a logical name or a URL. |
| Short | identifies 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. |
| Control | 1..1 |
| Type | uri |
| Is Modifier | false |
| XML Format | In the XML format, this property is represented as an attribute. |
| Summary | false |
| Fixed Value | http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions |
| 36. Extension.value[x] | |
| Definition | Value of extension - must be one of a constrained set of the data types (see Extensibility for a list). |
| Short | Value of extension |
| Control | 0..01 |
| Type | Choice 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 Modifier | false |
| Primitive Value | This primitive element may be present, or absent, or replaced by an extension |
| Summary | false |
| Invariants | ele-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 | Defines the regions studied, regions called, and regions deemed uncallable (generally due to low coverage) |
| Short | Genomic Study Analysis Regions |
| Control | 0..* This element is affected by the following invariants: ele-1 |
| Is Modifier | false |
| Invariants | ele-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. |
| Short | Unique id for inter-element referencing |
| Control | 0..1 |
| Type | string |
| Is Modifier | false |
| XML Format | In the XML format, this property is represented as an attribute. |
| Summary | false |
| 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. |
| Short | Additional 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. |
| Control | 0..* |
| Type | Extension |
| Is Modifier | false |
| Summary | false |
| Alternate Names | extensions, user content |
| Invariants | ele-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()) |
| Slicing | This element introduces a set of slices on Extension.extension. The slices are unordered and Open, and can be differentiated using the following discriminators: |
| 6. Extension.extension:description | |
| Slice Name | description |
| Definition | Freetext description of the regions studied for the sequencing test |
| Short | Regions Studied Description |
| Control | 0..1 |
| Type | Extension |
| Is Modifier | false |
| Summary | false |
| Invariants | ele-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:description.id | |
| Definition | Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces. |
| Short | Unique id for inter-element referencing |
| Control | 0..1 |
| Type | string |
| Is Modifier | false |
| XML Format | In the XML format, this property is represented as an attribute. |
| Summary | false |
| 10. Extension.extension:description.extension | |
| Definition | An Extension |
| Short | Extension |
| Control | 0..0 |
| Type | Extension |
| Is Modifier | false |
| Summary | false |
| Invariants | ele-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()) |
| Slicing | This element introduces a set of slices on Extension.extension.extension. The slices are unordered and Open, and can be differentiated using the following discriminators: |
| 12. Extension.extension:description.url | |
| Definition | Source of the definition for the extension code - a logical name or a URL. |
| Short | identifies 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. |
| Control | 1..1 |
| Type | uri |
| Is Modifier | false |
| XML Format | In the XML format, this property is represented as an attribute. |
| Summary | false |
| Fixed Value | description |
| 14. Extension.extension:description.value[x] | |
| Definition | Value of extension - must be one of a constrained set of the data types (see Extensibility for a list). |
| Short | Value of extension |
| Control | 0..1 |
| Type | string |
| [x] Note | See Choice of Data Types for further information about how to use [x] |
| Is Modifier | false |
| Primitive Value | This primitive element may be present, or absent, or replaced by an extension |
| Summary | false |
| Invariants | ele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count())) |
| 16. Extension.extension:studied | |
| Slice Name | studied |
| Definition | The genes or regions that were studied in the analysis. |
| Short | Genes or Regions Studied (GenomicStudy.analysis.regionsStudied) |
| Control | 0..* |
| Type | Extension |
| Is Modifier | false |
| Summary | false |
| Requirements | 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. |
| Invariants | ele-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:studied.id | |
| Definition | Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces. |
| Short | Unique id for inter-element referencing |
| Control | 0..1 |
| Type | string |
| Is Modifier | false |
| XML Format | In the XML format, this property is represented as an attribute. |
| Summary | false |
| 20. Extension.extension:studied.extension | |
| Definition | An Extension |
| Short | Extension |
| Control | 0..0 |
| Type | Extension |
| Is Modifier | false |
| Summary | false |
| Invariants | ele-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()) |
| Slicing | This element introduces a set of slices on Extension.extension.extension. The slices are unordered and Open, and can be differentiated using the following discriminators: |
| 22. Extension.extension:studied.url | |
| Definition | Source of the definition for the extension code - a logical name or a URL. |
| Short | identifies 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. |
| Control | 1..1 |
| Type | uri |
| Is Modifier | false |
| XML Format | In the XML format, this property is represented as an attribute. |
| Summary | false |
| Fixed Value | studied |
| 24. Extension.extension:studied.value[x] | |
| Definition | Value of extension - must be one of a constrained set of the data types (see Extensibility for a list). |
| Short | Gene codes or BED file |
| Control | 1..1 |
| Binding | Unless not suitable, these codes SHALL be taken from HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs) |
| Type | Choice of: CodeableConcept, Reference(Genomic Data File) |
| [x] Note | See Choice of Data Types for further information about how to use [x] |
| Is Modifier | false |
| Summary | false |
| Invariants | ele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count())) |
| 26. Extension.extension:called | |
| Slice Name | called |
| Definition | The genes or regions that were studied for the analysis with sufficient coverage and quality to be called. |
| Short | Genes or Regions Called (GenomicStudy.analysis.regionsCalled) |
| Control | 0..* |
| Type | Extension |
| Is Modifier | false |
| Summary | false |
| Requirements | 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. |
| Invariants | ele-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()) |
| 28. Extension.extension:called.id | |
| Definition | Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces. |
| Short | Unique id for inter-element referencing |
| Control | 0..1 |
| Type | string |
| Is Modifier | false |
| XML Format | In the XML format, this property is represented as an attribute. |
| Summary | false |
| 30. Extension.extension:called.extension | |
| Definition | An Extension |
| Short | Extension |
| Control | 0..0 |
| Type | Extension |
| Is Modifier | false |
| Summary | false |
| Invariants | ele-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()) |
| Slicing | This element introduces a set of slices on Extension.extension.extension. The slices are unordered and Open, and can be differentiated using the following discriminators: |
| 32. Extension.extension:called.url | |
| Definition | Source of the definition for the extension code - a logical name or a URL. |
| Short | identifies 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. |
| Control | 1..1 |
| Type | uri |
| Is Modifier | false |
| XML Format | In the XML format, this property is represented as an attribute. |
| Summary | false |
| Fixed Value | called |
| 34. Extension.extension:called.value[x] | |
| Definition | Value of extension - must be one of a constrained set of the data types (see Extensibility for a list). |
| Short | Gene codes or BED file |
| Control | 1..1 |
| Binding | Unless not suitable, these codes SHALL be taken from HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs) |
| Type | Choice of: CodeableConcept, Reference(Genomic Data File) |
| [x] Note | See Choice of Data Types for further information about how to use [x] |
| Is Modifier | false |
| Summary | false |
| Invariants | ele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count())) |
| 36. Extension.extension:uncalled | |
| Slice Name | uncalled |
| Definition | The genes or regions that were studied for the analysis but were deemed uncallable. |
| Short | Genes or Regions Uncalled |
| Control | 0..* |
| Type | Extension |
| Is Modifier | false |
| Summary | false |
| Requirements | 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. |
| Invariants | ele-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()) |
| 38. Extension.extension:uncalled.id | |
| Definition | Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces. |
| Short | Unique id for inter-element referencing |
| Control | 0..1 |
| Type | string |
| Is Modifier | false |
| XML Format | In the XML format, this property is represented as an attribute. |
| Summary | false |
| 40. Extension.extension:uncalled.extension | |
| Definition | An Extension |
| Short | Extension |
| Control | 0..0 |
| Type | Extension |
| Is Modifier | false |
| Summary | false |
| Invariants | ele-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()) |
| Slicing | This element introduces a set of slices on Extension.extension.extension. The slices are unordered and Open, and can be differentiated using the following discriminators: |
| 42. Extension.extension:uncalled.url | |
| Definition | Source of the definition for the extension code - a logical name or a URL. |
| Short | identifies 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. |
| Control | 1..1 |
| Type | uri |
| Is Modifier | false |
| XML Format | In the XML format, this property is represented as an attribute. |
| Summary | false |
| Fixed Value | uncalled |
| 44. Extension.extension:uncalled.value[x] | |
| Definition | Value of extension - must be one of a constrained set of the data types (see Extensibility for a list). |
| Short | Gene codes or BED file |
| Control | 1..1 |
| Binding | Unless not suitable, these codes SHALL be taken from HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs) |
| Type | Choice of: CodeableConcept, Reference(Genomic Data File) |
| [x] Note | See Choice of Data Types for further information about how to use [x] |
| Is Modifier | false |
| Summary | false |
| Invariants | ele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count())) |
| 46. Extension.url | |
| Definition | Source of the definition for the extension code - a logical name or a URL. |
| Short | identifies 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. |
| Control | 1..1 |
| Type | uri |
| Is Modifier | false |
| XML Format | In the XML format, this property is represented as an attribute. |
| Summary | false |
| Fixed Value | http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions |
| 48. Extension.value[x] | |
| Definition | Value of extension - must be one of a constrained set of the data types (see Extensibility for a list). |
| Short | Value of extension |
| Control | 0..0 |
| Type | Choice 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 Modifier | false |
| Primitive Value | This primitive element may be present, or absent, or replaced by an extension |
| Summary | false |
| Invariants | ele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count())) |
IG © 2022+ HL7 International / Clinical Genomics. Package hl7.fhir.uv.genomics-reporting#3.0.1-SNAPSHOT based on FHIR 4.0.1. Generated 2024-04-09
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