Generated Narrative: StructureDefinition observation-geneticsVariant Name Flags Card. Type Description & Constraints Extension 0..1 Extension Variant #xD; Slices for extension Content/Rules for all slices #xD; extension:Name 0..1 Extension HGVS nomenclature for observed DNA sequence variant #xD; extension 0..0 Extension #xD; url 1..1 uri "Name" #xD; value[x] 1..1 CodeableConcept Value of extension Binding Description: (example): NCBI central repository of potentially clinically relevant variants. #xD; <a href="StructureDefinition-observation-geneticsVariant-definitions.html#Extension.extension:Id" title="Slice Id: Identifier for DNA sequence variant. If a germline variant, ClinVar or dbSNP identifier should be used. If a somatic variant, COSMIC identifier should be used, unless in ClinVar then either maybe used. Need to provide the code system used (ClinVar, dbSNP, COSMIC) LOINC Code: ([48003-8](http://loinc.org/48003-8)).">extension:Id 0..1 Extension DNA sequence variant ID #xD; extension 0..0 Extension #xD; url 1..1 uri "Id" #xD; value[x] 1..1 CodeableConcept Value of extension #xD; extension:Type 0..1 Extension DNA sequence variant type #xD; extension 0..0 Extension #xD; url 1..1 uri "Type" #xD; value[x] 1..1 CodeableConcept Value of extension #xD; url 1..1 uri "http://hl7.org/fhir/StructureDefinition/observation-geneticsVariant" #xD; value[x] 0..0 Value of extension #xD; Documentation for this format
This extension has been replaced by the profiles and extensions defined in the [Genomics Reporting Guide](https://hl7.org/fhir/uv/genomics-reporting/)
HL7 International / Orders and Observations
All FHIR elements must have a @value or children
hasValue() or (children().count() > id.count())
Must have either extensions or value[x], not both
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 managable, 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.
HGVS nomenclature for observed DNA sequence variant
Human Genome Variation Society (HGVS) nomenclature for a single or set of DNA Sequence Variation(s) identified in testing. The use of the nomenclature is also used to describe non-variations (aka. wild types). LOINC Code: ([48004-6](http://loinc.org/48004-6)).
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/R5/extensibility.html) for a list).
NCBI central repository of potentially clinically relevant variants.
Identifier for DNA sequence variant. If a germline variant, ClinVar or dbSNP identifier should be used. If a somatic variant, COSMIC identifier should be used, unless in ClinVar then either maybe used. Need to provide the code system used (ClinVar, dbSNP, COSMIC) LOINC Code: ([48003-8](http://loinc.org/48003-8)).
Codified type for associated DNA sequence variant. DNA sequence variants use the HGVS notation, which implies the DNA sequence variant type. LOINC Code: ([48019-4](http://loinc.org/48019-4)).