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: HGNC gene symbol

(No assigned work group) Maturity Level: 0Context: 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). LONIC Code: (48018-6).

Context of Use: Use on element: Observation

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

Extension Content

Summary

NameFlagsCard.TypeDescription & Constraintsdoco
.. extension0..1CodeableConceptURL = http://hl7.org/fhir/StructureDefinition/observation-geneticsGene
HGNC gene symbol: 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)). LONIC Code: ([48018-6](http://loinc.org/48018-6)).
Use on element: Observation

doco Documentation for this format

Fulle Structure

NameFlagsCard.TypeDescription & Constraintsdoco
.. extension0..1ExtensionURL = http://hl7.org/fhir/StructureDefinition/observation-geneticsGene
HGNC gene symbol: 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)). LONIC Code: ([48018-6](http://loinc.org/48018-6)).
Use on element: Observation
... extension 0..0
... url 1..1uri"http://hl7.org/fhir/StructureDefinition/observation-geneticsGene"
... valueCodeableConcept 1..1CodeableConceptValue of extension
Binding: ???? (preferred)

doco Documentation for this format

XML Template

<!-- HGNC gene symbol -->doco

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

JSON Template

{ // HGNC gene symbol
  // from Element: extension
    "url" : "http://hl7.org/fhir/StructureDefinition/observation-geneticsGene", // R! 
    "valueCodeableConcept" : { CodeableConcept } // R! Value of extension
  }

Summary

NameFlagsCard.TypeDescription & Constraintsdoco
.. extension0..1CodeableConceptURL = http://hl7.org/fhir/StructureDefinition/observation-geneticsGene
HGNC gene symbol: 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)). LONIC Code: ([48018-6](http://loinc.org/48018-6)).
Use on element: Observation

doco Documentation for this format

Full Structure

NameFlagsCard.TypeDescription & Constraintsdoco
.. extension0..1ExtensionURL = http://hl7.org/fhir/StructureDefinition/observation-geneticsGene
HGNC gene symbol: 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)). LONIC Code: ([48018-6](http://loinc.org/48018-6)).
Use on element: Observation
... extension 0..0
... url 1..1uri"http://hl7.org/fhir/StructureDefinition/observation-geneticsGene"
... valueCodeableConcept 1..1CodeableConceptValue of extension
Binding: ???? (preferred)

doco Documentation for this format

XML Template

<!-- HGNC gene symbol -->doco

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

JSON Template

{ // HGNC gene symbol
  // from Element: extension
    "url" : "http://hl7.org/fhir/StructureDefinition/observation-geneticsGene", // 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')]))