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Extension: DNA sequence variant

URL for this extension:

http://hl7.org/fhir/StructureDefinition/observation-geneticsDNASequenceVariant

Status: draft. Extension maintained by: Health Level Seven International (Clinical Genomics)

A' is a variant (mutation) of A = definition every instance of A' is either an immediate mutation of some instance of A, or there is a chain of immediate mutation processes linking A' to some instance of A (variant_of). This element is the Human Genome Variation Society (HGVS) nomenclature for a single or set of DNA sequence variant(s) identified in testing. Reference sequence ID used for HGVS naming must be anotated.

Context of Use: Use on element: Observation

usage info: insert a list of places where this extension is used

Extension Content

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• Full Structure
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Summary

Name	Flags	Card.	Type	Description & Constraints
extension		0..1	string	URL = http://hl7.org/fhir/StructureDefinition/observation-geneticsDNASequenceVariant DNA sequence variant: A' is a variant (mutation) of A = definition every instance of A' is either an immediate mutation of some instance of A, or there is a chain of immediate mutation processes linking A' to some instance of A ([variant_of](http://www.sequenceontology.org/browser/current_svn/term/variant_of)). This element is the Human Genome Variation Society (HGVS) nomenclature for a single or set of DNA sequence variant(s) identified in testing. Reference sequence ID used for HGVS naming must be anotated. Use on element: Observation
Documentation for this format

Fulle Structure

Name	Flags	Card.	Type	Description & Constraints
extension		0..1	Extension	URL = http://hl7.org/fhir/StructureDefinition/observation-geneticsDNASequenceVariant DNA sequence variant: A' is a variant (mutation) of A = definition every instance of A' is either an immediate mutation of some instance of A, or there is a chain of immediate mutation processes linking A' to some instance of A ([variant_of](http://www.sequenceontology.org/browser/current_svn/term/variant_of)). This element is the Human Genome Variation Society (HGVS) nomenclature for a single or set of DNA sequence variant(s) identified in testing. Reference sequence ID used for HGVS naming must be anotated. Use on element: Observation
extension		0..0
url		1..1	uri	"http://hl7.org/fhir/StructureDefinition/observation-geneticsDNASequenceVariant"
valueString		1..1	string	Value of extension
Documentation for this format

XML Template

<!-- DNA sequence variant -->

<extension xmlns="http://hl7.org/fhir"
     url="http://hl7.org/fhir/StructureDefinition/observation-geneticsDNASequenceVariant" >
  <!-- from Element: extension -->
 <valueString value="[string]"/><!-- 1..1 Value of extension -->
</extension>

JSON Template

{ // DNA sequence variant
  // from Element: extension
    "url" : "http://hl7.org/fhir/StructureDefinition/observation-geneticsDNASequenceVariant", // R! 
    "valueString" : "<string>" // R! Value of extension
  }

Summary

Name	Flags	Card.	Type	Description & Constraints
extension		0..1	string	URL = http://hl7.org/fhir/StructureDefinition/observation-geneticsDNASequenceVariant DNA sequence variant: A' is a variant (mutation) of A = definition every instance of A' is either an immediate mutation of some instance of A, or there is a chain of immediate mutation processes linking A' to some instance of A ([variant_of](http://www.sequenceontology.org/browser/current_svn/term/variant_of)). This element is the Human Genome Variation Society (HGVS) nomenclature for a single or set of DNA sequence variant(s) identified in testing. Reference sequence ID used for HGVS naming must be anotated. Use on element: Observation
Documentation for this format

Full Structure

Name	Flags	Card.	Type	Description & Constraints
extension		0..1	Extension	URL = http://hl7.org/fhir/StructureDefinition/observation-geneticsDNASequenceVariant DNA sequence variant: A' is a variant (mutation) of A = definition every instance of A' is either an immediate mutation of some instance of A, or there is a chain of immediate mutation processes linking A' to some instance of A ([variant_of](http://www.sequenceontology.org/browser/current_svn/term/variant_of)). This element is the Human Genome Variation Society (HGVS) nomenclature for a single or set of DNA sequence variant(s) identified in testing. Reference sequence ID used for HGVS naming must be anotated. Use on element: Observation
extension		0..0
url		1..1	uri	"http://hl7.org/fhir/StructureDefinition/observation-geneticsDNASequenceVariant"
valueString		1..1	string	Value of extension
Documentation for this format

XML Template

<!-- DNA sequence variant -->

<extension xmlns="http://hl7.org/fhir"
     url="http://hl7.org/fhir/StructureDefinition/observation-geneticsDNASequenceVariant" >
  <!-- from Element: extension -->
 <valueString value="[string]"/><!-- 1..1 Value of extension -->
</extension>

JSON Template

{ // DNA sequence variant
  // from Element: extension
    "url" : "http://hl7.org/fhir/StructureDefinition/observation-geneticsDNASequenceVariant", // R! 
    "valueString" : "<string>" // R! Value of extension
  }

Constraints

• 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')]))