R4 Draft for Comment

This page is part of the FHIR Specification (v3.2.0: R4 Ballot 1). 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: Gene

Orders and Observations Work Group

Maturity Level: 1

Informative

Use Context: Any

URL for this extension:

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

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

A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions (SO:0000704). This element is the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name (HGNC). LOINC Code: (48018-6).

Context of Use: Use on element: Observation

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

Summary

Name	Flags	Card.	Type	Description & Constraints
extension		0..1	CodeableConcept	URL = http://hl7.org/fhir/StructureDefinition/observation-geneticsGene Gene: A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions ([SO:0000704](http://www.sequenceontology.org/browser/current_svn/term/SO:0000704)). This element is the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name ([HGNC](http://www.genenames.org)). LOINC Code: ([48018-6](http://loinc.org/48018-6)). Binding: ???? (preferred) Use on element: Observation
Documentation for this format

Full Structure

Name	Card.	Type	Description & Constraints
extension	0..1	Extension	URL = http://hl7.org/fhir/StructureDefinition/observation-geneticsGene Gene: A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions ([SO:0000704](http://www.sequenceontology.org/browser/current_svn/term/SO:0000704)). This element is the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name ([HGNC](http://www.genenames.org)). LOINC Code: ([48018-6](http://loinc.org/48018-6)). Use on element: Observation
url	1..1	uri	"http://hl7.org/fhir/StructureDefinition/observation-geneticsGene"
valueCodeableConcept	0..1	CodeableConcept	Value of extension Binding: ???? (preferred)
Documentation for this format

XML Template

<!-- Gene -->

<extension xmlns="http://hl7.org/fhir"
     url="http://hl7.org/fhir/StructureDefinition/observation-geneticsGene" >
  <!-- from Element: extension -->
 <valueCodeableConcept><!-- 0..1 CodeableConcept Value of extension --></valueCodeableConcept>
</extension>

JSON Template

{ // Gene
  // from Element: extension
    "extension" : [ //  sliced by value:url  in the specified order, Open ]
    "url" : "http://hl7.org/fhir/StructureDefinition/observation-geneticsGene", // R! 
    "valueCodeableConcept" : { CodeableConcept } //Value of extension
  }

Summary

Name	Flags	Card.	Type	Description & Constraints
extension		0..1	CodeableConcept	URL = http://hl7.org/fhir/StructureDefinition/observation-geneticsGene Gene: A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions ([SO:0000704](http://www.sequenceontology.org/browser/current_svn/term/SO:0000704)). This element is the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name ([HGNC](http://www.genenames.org)). LOINC Code: ([48018-6](http://loinc.org/48018-6)). Binding: ???? (preferred) Use on element: Observation
Documentation for this format

Full Structure

Name	Card.	Type	Description & Constraints
extension	0..1	Extension	URL = http://hl7.org/fhir/StructureDefinition/observation-geneticsGene Gene: A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions ([SO:0000704](http://www.sequenceontology.org/browser/current_svn/term/SO:0000704)). This element is the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name ([HGNC](http://www.genenames.org)). LOINC Code: ([48018-6](http://loinc.org/48018-6)). Use on element: Observation
url	1..1	uri	"http://hl7.org/fhir/StructureDefinition/observation-geneticsGene"
valueCodeableConcept	0..1	CodeableConcept	Value of extension Binding: ???? (preferred)
Documentation for this format

XML Template

<!-- Gene -->

<extension xmlns="http://hl7.org/fhir"
     url="http://hl7.org/fhir/StructureDefinition/observation-geneticsGene" >
  <!-- from Element: extension -->
 <valueCodeableConcept><!-- 0..1 CodeableConcept Value of extension --></valueCodeableConcept>
</extension>

JSON Template

{ // Gene
  // from Element: extension
    "extension" : [ //  sliced by value:url  in the specified order, Open ]
    "url" : "http://hl7.org/fhir/StructureDefinition/observation-geneticsGene", // R! 
    "valueCodeableConcept" : { CodeableConcept } //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')]))