Extension-observation-geneticsgene.xml

HGNC gene symbol

<StructureDefinition xmlns="http://hl7.org/fhir">
  <id value="observation-geneticsGene"/>
  <url value="http://hl7.org/fhir/StructureDefinition/observation-geneticsGene"/>
  <name value="HGNC gene symbol"/>
  <status value="draft"/>
  <publisher value="Health Level Seven International (Clinical Genomics)"/>
  <contact>
    <telecom>
      <system value="other"/>
      <value value="http://www.hl7.org/Special/committees/clingenomics"/>
    </telecom>
  </contact>
  <date value="2016-03-14"/>
  <description value="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))."/>
  <fhirVersion value="1.6.0"/>
  <mapping>
    <identity value="rim"/>
    <uri value="http://hl7.org/v3"/>
    <name value="RIM Mapping"/>
  </mapping>
  <kind value="complex-type"/>
  <abstract value="false"/>
  <contextType value="resource"/>
  <context value="Observation"/>
  <type value="Extension"/>
  <baseDefinition value="http://hl7.org/fhir/StructureDefinition/Extension"/>
  <derivation value="constraint"/>
  <snapshot>
    <element id="Extension:hgncgenesymbol">
      <path value="Extension"/>
      <short value="HGNC gene symbol"/>
      <definition value="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))."/>
      <comments value="Other systems or genes not defined in HGNC (e.g., BCR-ABL fusion gene) can be added by
       using a local extension."/>
      <min value="0"/>
      <max value="1"/>
      <base>
        <path value="Extension"/>
        <min value="0"/>
        <max value="*"/>
      </base>
      <condition value="ele-1"/>
      <constraint>
        <key value="ele-1"/>
        <severity value="error"/>
        <human value="All FHIR elements must have a @value or children"/>
        <expression value="children().count() &gt; id.count()"/>
        <xpath value="@value|f:*|h:div"/>
      </constraint>
      <constraint>
        <key value="ext-1"/>
        <severity value="error"/>
        <human value="Must have either extensions or value[x], not both"/>
        <expression value="extension.exists() != value.exists()"/>
        <xpath value="exists(f:extension)!=exists(f:*[starts-with(local-name(.), 'value')])"/>
      </constraint>
    </element>
    <element id="Extension:hgncgenesymbol.id">
      <path value="Extension.id"/>
      <representation value="xmlAttr"/>
      <short value="xml:id (or equivalent in JSON)"/>
      <definition value="unique id for the element within a resource (for internal references). This may be any
       string value that does not contain spaces."/>
      <min value="0"/>
      <max value="1"/>
      <base>
        <path value="Element.id"/>
        <min value="0"/>
        <max value="*"/>
      </base>
      <type>
        <code value="string"/>
      </type>
      <mapping>
        <identity value="rim"/>
        <map value="n/a"/>
      </mapping>
    </element>
    <element id="Extension:hgncgenesymbol.extension:extension">
      <path value="Extension.extension"/>
      <name value="extension"/>
      <short value="Extension"/>
      <definition value="An Extension"/>
      <min value="0"/>
      <max value="0"/>
      <base>
        <path value="Element.extension"/>
        <min value="0"/>
        <max value="*"/>
      </base>
      <type>
        <code value="Extension"/>
      </type>
    </element>
    <element id="Extension:hgncgenesymbol.url">
      <path value="Extension.url"/>
      <representation value="xmlAttr"/>
      <short value="identifies the meaning of the extension"/>
      <definition value="Source of the definition for the extension code - a logical name or a URL."/>
      <comments value="The definition may point directly to a computable or human-readable definition of the
       extensibility codes, or it may be a logical URI as declared in some other specification.
       The definition SHALL be a URI for the Structure Definition defining the extension."/>
      <min value="1"/>
      <max value="1"/>
      <base>
        <path value="Extension.url"/>
        <min value="1"/>
        <max value="1"/>
      </base>
      <type>
        <code value="uri"/>
      </type>
      <fixedUri value="http://hl7.org/fhir/StructureDefinition/observation-geneticsGene"/>
      <mapping>
        <identity value="rim"/>
        <map value="N/A"/>
      </mapping>
    </element>
    <element id="Extension:hgncgenesymbol.valueCodeableConcept">
      <path value="Extension.valueCodeableConcept"/>
      <short value="Value of extension"/>
      <definition value="Value of extension - may be a resource or one of a constrained set of the data types (see
       Extensibility in the spec for list)."/>
      <min value="1"/>
      <max value="1"/>
      <base>
        <path value="Extension.value[x]"/>
        <min value="0"/>
        <max value="1"/>
      </base>
      <type>
        <code value="CodeableConcept"/>
      </type>
      <mapping>
        <identity value="rim"/>
        <map value="N/A"/>
      </mapping>
    </element>
  </snapshot>
  <differential>
    <element id="Extension:hgncgenesymbol">
      <path value="Extension"/>
      <short value="HGNC gene symbol"/>
      <definition value="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))."/>
      <comments value="Other systems or genes not defined in HGNC (e.g., BCR-ABL fusion gene) can be added by
       using a local extension."/>
      <min value="0"/>
      <max value="1"/>
    </element>
    <element id="Extension:hgncgenesymbol.extension:extension">
      <path value="Extension.extension"/>
      <name value="extension"/>
      <max value="0"/>
    </element>
    <element id="Extension:hgncgenesymbol.url">
      <path value="Extension.url"/>
      <type>
        <code value="uri"/>
      </type>
      <fixedUri value="http://hl7.org/fhir/StructureDefinition/observation-geneticsGene"/>
    </element>
    <element id="Extension:hgncgenesymbol.value[x]">
      <path value="Extension.value[x]"/>
      <min value="1"/>
      <type>
        <code value="CodeableConcept"/>
      </type>
    </element>
  </differential>
</StructureDefinition>