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Extension: HGVS nomenclature for observed DNA sequence variant

URL for this extension:

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

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

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).

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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Summary

Name	Flags	Card.	Type	Description & Constraints
extension		0..1	CodeableConcept	URL = http://hl7.org/fhir/StructureDefinition/observation-geneticsDNASequenceVariantName 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). LONIC Code: ([48004-6](http://loinc.org/48004-6)). 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-geneticsDNASequenceVariantName 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). LONIC Code: ([48004-6](http://loinc.org/48004-6)). Use on element: Observation
extension		0..0
url		1..1	uri	"http://hl7.org/fhir/StructureDefinition/observation-geneticsDNASequenceVariantName"
valueCodeableConcept		1..1	CodeableConcept	Value of extension Binding: ???? (preferred)
Documentation for this format

XML Template

<!-- HGVS nomenclature for observed DNA sequence variant -->

<extension xmlns="http://hl7.org/fhir"
     url="http://hl7.org/fhir/StructureDefinition/observation-geneticsDNASequenceVariantName" >
  <!-- from Element: extension -->
 <valueCodeableConcept><!-- 1..1 CodeableConcept Value of extension --></valueCodeableConcept>
</extension>

JSON Template

{ // HGVS nomenclature for observed DNA sequence variant
  // from Element: extension
    "url" : "http://hl7.org/fhir/StructureDefinition/observation-geneticsDNASequenceVariantName", // R! 
    "valueCodeableConcept" : { CodeableConcept } // R! Value of extension
  }

Summary

Name	Flags	Card.	Type	Description & Constraints
extension		0..1	CodeableConcept	URL = http://hl7.org/fhir/StructureDefinition/observation-geneticsDNASequenceVariantName 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). LONIC Code: ([48004-6](http://loinc.org/48004-6)). 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-geneticsDNASequenceVariantName 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). LONIC Code: ([48004-6](http://loinc.org/48004-6)). Use on element: Observation
extension		0..0
url		1..1	uri	"http://hl7.org/fhir/StructureDefinition/observation-geneticsDNASequenceVariantName"
valueCodeableConcept		1..1	CodeableConcept	Value of extension Binding: ???? (preferred)
Documentation for this format

XML Template

<!-- HGVS nomenclature for observed DNA sequence variant -->

<extension xmlns="http://hl7.org/fhir"
     url="http://hl7.org/fhir/StructureDefinition/observation-geneticsDNASequenceVariantName" >
  <!-- from Element: extension -->
 <valueCodeableConcept><!-- 1..1 CodeableConcept Value of extension --></valueCodeableConcept>
</extension>

JSON Template

{ // HGVS nomenclature for observed DNA sequence variant
  // from Element: extension
    "url" : "http://hl7.org/fhir/StructureDefinition/observation-geneticsDNASequenceVariantName", // R! 
    "valueCodeableConcept" : { CodeableConcept } // 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')]))