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 . Page versions: R4B R4 R3

Extension: Copy number variation

(No assigned work group)   Maturity Level : 0 Context: Any

URL for this extension: 


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

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

A variation that increases or decreases the copy number of a given region ( SO:0001019 ). Values: amplification/deletion/LOH.

Context of Use: Use on element: Observation

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

Extension Content

Summary

Name Flags Card. Type Description & Constraints doco
. . extension 0..1 CodeableConcept URL = http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent
Copy number variation: A variation that increases or decreases the copy number of a given region ([SO:0001019](http://www.sequenceontology.org/browser/current_svn/term/SO:0001019)). Values: amplification/deletion/LOH.
Use on element: Observation

doco Documentation for this format

Fulle Structure

Name Flags Card. Type Description & Constraints doco
. . extension 0..1 Extension URL = http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent
Copy number variation: A variation that increases or decreases the copy number of a given region ([SO:0001019](http://www.sequenceontology.org/browser/current_svn/term/SO:0001019)). Values: amplification/deletion/LOH.
Use on element: Observation
. . . extension 0 .. 0
. . . url 1..1 uri "http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent"
. . . valueCodeableConcept 1..1 CodeableConcept Value of extension

doco Documentation for this format

XML Template 

<!-- Copy number variation -->doco

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

JSON Template 

{ // Copy number variation
  // from Element: extension
    "url" : "http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent", // R! 
    "valueCodeableConcept" : { CodeableConcept } // R! Value of extension
  }

Summary

Name Flags Card. Type Description & Constraints doco
. . extension 0..1 CodeableConcept URL = http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent
Copy number variation: A variation that increases or decreases the copy number of a given region ([SO:0001019](http://www.sequenceontology.org/browser/current_svn/term/SO:0001019)). Values: amplification/deletion/LOH.
Use on element: Observation

doco Documentation for this format

Full Structure

Name Flags Card. Type Description & Constraints doco
. . extension 0..1 Extension URL = http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent
Copy number variation: A variation that increases or decreases the copy number of a given region ([SO:0001019](http://www.sequenceontology.org/browser/current_svn/term/SO:0001019)). Values: amplification/deletion/LOH.
Use on element: Observation
. . . extension 0 .. 0
. . . url 1..1 uri "http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent"
. . . valueCodeableConcept 1..1 CodeableConcept Value of extension

doco Documentation for this format

XML Template 

<!-- Copy number variation -->doco

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

JSON Template 

{ // Copy number variation
  // from Element: extension
    "url" : "http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent", // 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')]) )