Extension: The level of occurrence of a single DNA sequence variant within a set of chromosomes: Heteroplasmic / Homoplasmic / Homozygous / Heterozygous / Hemizygous

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 The level of occurrence of a single DNA sequence variant within a set of chromosomes: Heteroplasmic / Homoplasmic / Homozygous / Heterozygous / Hemizygous - Detailed Descriptions

Detailed Descriptions for the elements in the extension.

Extension
Definition	The level of occurrence of a single DNA Sequence Variant within a set of chromosomes. Heterozygous indicates the DNA sequence variant is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Sequence Variant is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Sequence Variant exists in the only single copy of a gene in a non- homologous chromosome (the male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Sequence Variant is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Sequence Variant is present in all of the copies of mitochondrial DNA. LONIC Code: (53034-5).
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-geneticsAllelicState
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
Type	CodeableConcept