Extension: HGVS nomenclature for observed Amino Acid Change

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 Amino Acid Change - Detailed Descriptions

Detailed Descriptions for the elements in the extension.

Extension
Definition	Human Genome Variation Society (HGVS) nomenclature for an amino acid change. Reference sequence ID used for HGVS naming must be anotated. An amino acid is a sequence feature that corresponds to a single amino acid residue in a polypeptide (SO:0001237). LONIC Code: (48005-3).
Control	0..1 This element is affected by the following invariants: ele-1
Invariants	Defined 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.
Control	0..1
Type	string
Extension.extension(extension)
Definition	An Extension
Control	0..0
Type	Extension
Extension.url
Definition	Source of the definition for the extension code - a logical name or a URL.
Control	1..1
Type	uri
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 Value	http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChangeName
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).
Control	1..1
Terminology Binding	International nomenclature for variant naming The codes SHOULD be taken from http://www.hgvs.org/mutnomen/
Type	CodeableConcept