STU3 Candidate

This page is part of the FHIR Specification (v1.8.0: STU 3 Draft). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions

Extension HGVS nomenclature for observed DNA sequence variant - Detailed Descriptions

Detailed Descriptions for the elements in the extension.

Extension
Definition

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). LONIC Code: (48004-6).

Control0..1 This element is affected by the following invariants: ele-1
InvariantsDefined on this element
ele-1: All FHIR elements must have a @value or children (xpath: @value|f:*|h:div)
ext-1: Must have either extensions or value[x], not both (xpath: exists(f:extension)!=exists(f:*[starts-with(local-name(.), 'value')]))
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.

Control0..1
Typestring
Extension.extension(extension)
Definition

An Extension

Control0..0
TypeExtension
Extension.url
Definition

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

Control1..1
Typeuri
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.

Fixed Valuehttp://hl7.org/fhir/StructureDefinition/observation-geneticsDNASequenceVariantName
Extension.valueCodeableConcept
Definition

Value of extension - may be a resource or one of a constrained set of the data types (see Extensibility in the spec for list).

Control1..1
Terminology BindingInternational nomenclature for variant naming
The codes SHOULD be taken from http://www.hgvs.org/mutnomen/
TypeCodeableConcept