DSTU2 Ballot Source

This page is part of the FHIR Specification (v0.5.0: DSTU 2 Ballot 2). 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 VariantId - Definition

URL for this extension:

http://hl7.org/fhir/StructureDefinition/geneticsVariationId

Status: draft. Extension maintained by: Health Level Seven, Intl - Clinical Genomics

Identifier for variant. If a germline variant, ClinVar or dbSNP identifier should be used. If ClinVar is used, the identifier should be prefixed with 'ClinVar:' (e.g. ClinVar:17661). dbSNP ids are start with 'rs' (rs28897672) and COSMIC id's start with 'COSM' (e.g. COSM12979). Note, dbSNP id's are not unique to a variant but a location, so nucleotide change and germline/somatic classification are needed to resolve. If a somatic variant, COSMIC identifier should be used, unless in ClinVar then either maybe used.

Context of Use: Use on element: Observation

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

Structure

Name	Card.	Type	Description & Constraints
extension		Extension	URL = http://hl7.org/fhir/StructureDefinition/geneticsVariationId VariantId: Identifier for variant. If a germline variant, ClinVar or dbSNP identifier should be used. If ClinVar is used, the identifier should be prefixed with 'ClinVar:' (e.g. ClinVar:17661). dbSNP ids are start with 'rs' (rs28897672) and COSMIC id's start with 'COSM' (e.g. COSM12979). Note, dbSNP id's are not unique to a variant but a location, so nucleotide change and germline/somatic classification are needed to resolve. If a somatic variant, COSMIC identifier should be used, unless in ClinVar then either maybe used. Use on element: Observation
extension	0..*	Extension	Additional Content defined by implementations
url	1..1	uri	identifies the meaning of the extension Fixed Value: http://hl7.org/fhir/StructureDefinition/geneticsVariationId
valueCode	0..1	code	Value of extension

XML Template

<!-- VariantId -->

<extension xmlns="http://hl7.org/fhir"
     url="http://hl7.org/fhir/StructureDefinition/geneticsVariationId" >
  <!-- from Element: extension -->
 <valueCode  value="[code]"/><!-- 0..1 Value of extension
</extension>

JSON Template

{ // VariantId
  // from Element: extension
    "url" : "http://hl7.org/fhir/StructureDefinition/geneticsVariationId", // R! 
    "valueCode" : "<code>" //Value of extension
  }

Structure

Name	Card.	Type	Description & Constraints
extension		Extension	URL = http://hl7.org/fhir/StructureDefinition/geneticsVariationId VariantId: Identifier for variant. If a germline variant, ClinVar or dbSNP identifier should be used. If ClinVar is used, the identifier should be prefixed with 'ClinVar:' (e.g. ClinVar:17661). dbSNP ids are start with 'rs' (rs28897672) and COSMIC id's start with 'COSM' (e.g. COSM12979). Note, dbSNP id's are not unique to a variant but a location, so nucleotide change and germline/somatic classification are needed to resolve. If a somatic variant, COSMIC identifier should be used, unless in ClinVar then either maybe used. Use on element: Observation
extension	0..*	Extension	Additional Content defined by implementations
url	1..1	uri	identifies the meaning of the extension Fixed Value: http://hl7.org/fhir/StructureDefinition/geneticsVariationId
valueCode	0..1	code	Value of extension

XML Template

<!-- VariantId -->

<extension xmlns="http://hl7.org/fhir"
     url="http://hl7.org/fhir/StructureDefinition/geneticsVariationId" >
  <!-- from Element: extension -->
 <valueCode  value="[code]"/><!-- 0..1 Value of extension
</extension>

JSON Template

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