Extension-observation-geneticsgene.xml

Gene

<?xml version="1.0" encoding="UTF-8"?>

<StructureDefinition xmlns="http://hl7.org/fhir">
  <id value="observation-geneticsGene"/> 
  <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg">
    <valueCode value="oo"/> 
  </extension> 
  <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm">
    <valueInteger value="1"/> 
  </extension> 
  <url value="http://hl7.org/fhir/StructureDefinition/observation-geneticsGene"/> 
  <version value="4.0.1"/> 
  <name value="Gene"/> 
  <status value="draft"/> 
  <date value="2016-03-14"/> 
  <publisher value="Health Level Seven International (Clinical Genomics)"/> 
  <contact> 
    <telecom> 
      <system value="url"/> 
      <value value="http://www.hl7.org/Special/committees/clingenomics"/> 
    </telecom> 
  </contact> 
  <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)). LOINC
   Code: ([48018-6](http://loinc.org/48018-6))."/> 
  <fhirVersion value="4.0.1"/> 
  <mapping> 
    <identity value="rim"/> 
    <uri value="http://hl7.org/v3"/> 
    <name value="RIM Mapping"/> 
  </mapping> 
  <kind value="complex-type"/> 
  <abstract value="false"/> 
  <context> 
    <type value="element"/> 
    <expression value="Observation"/> 
  </context> 
  <type value="Extension"/> 
  <baseDefinition value="http://hl7.org/fhir/StructureDefinition/Extension"/> 
  <derivation value="constraint"/> 
  <snapshot> 
    <element id="Extension">
      <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)). LOINC
       Code: ([48018-6](http://loinc.org/48018-6))."/> 
      <comment 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="hasValue() or (children().count() &gt; id.count())"/> 
        <xpath value="@value|f:*|h:div"/> 
        <source value="http://hl7.org/fhir/StructureDefinition/Element"/> 
      </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')])"/> 
        <source value="http://hl7.org/fhir/StructureDefinition/Extension"/> 
      </constraint> 
      <isModifier value="false"/> 
    </element> 
    <element id="Extension.id">
      <path value="Extension.id"/> 
      <representation value="xmlAttr"/> 
      <short value="Unique id for inter-element referencing"/> 
      <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="1"/> 
      </base> 
      <type> 
        <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type">
          <valueUrl value="string"/> 
        </extension> 
        <code value="http://hl7.org/fhirpath/System.String"/> 
      </type> 
      <isModifier value="false"/> 
      <isSummary value="false"/> 
      <mapping> 
        <identity value="rim"/> 
        <map value="n/a"/> 
      </mapping> 
    </element> 
    <element id="Extension.extension">
      <path value="Extension.extension"/> 
      <slicing> 
        <discriminator> 
          <type value="value"/> 
          <path value="url"/> 
        </discriminator> 
        <description value="Extensions are always sliced by (at least) url"/> 
        <rules value="open"/> 
      </slicing> 
      <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> 
      <constraint> 
        <key value="ele-1"/> 
        <severity value="error"/> 
        <human value="All FHIR elements must have a @value or children"/> 
        <expression value="hasValue() or (children().count() &gt; id.count())"/> 
        <xpath value="@value|f:*|h:div"/> 
        <source value="http://hl7.org/fhir/StructureDefinition/Element"/> 
      </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(.), &quot;value&quot;)])"/> 
        <source value="http://hl7.org/fhir/StructureDefinition/Extension"/> 
      </constraint> 
      <isModifier value="false"/> 
      <isSummary value="false"/> 
    </element> 
    <element id="Extension.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."/> 
      <comment 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> 
        <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type">
          <valueUrl value="uri"/> 
        </extension> 
        <code value="http://hl7.org/fhirpath/System.String"/> 
      </type> 
      <fixedUri value="http://hl7.org/fhir/StructureDefinition/observation-geneticsGene"/> 
      <isModifier value="false"/> 
      <isSummary value="false"/> 
      <mapping> 
        <identity value="rim"/> 
        <map value="N/A"/> 
      </mapping> 
    </element> 
    <element id="Extension.value[x]">
      <path value="Extension.value[x]"/> 
      <short value="Value of extension"/> 
      <definition value="Value of extension - must be one of a constrained set of the data types (see [Extensibility](http://
      hl7.org/fhir/extensibility.html) for a 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> 
      <constraint> 
        <key value="ele-1"/> 
        <severity value="error"/> 
        <human value="All FHIR elements must have a @value or children"/> 
        <expression value="hasValue() or (children().count() &gt; id.count())"/> 
        <xpath value="@value|f:*|h:div"/> 
        <source value="http://hl7.org/fhir/StructureDefinition/Element"/> 
      </constraint> 
      <isModifier value="false"/> 
      <isSummary value="false"/> 
      <binding> 
        <extension url="http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName">
          <valueString value="HGNC-geneIdentifiers"/> 
        </extension> 
        <strength value="preferred"/> 
        <description value="International curated set of gene identifiers."/> 
        <valueSet value="http://hl7.org/fhir/ValueSet/genenames"/> 
      </binding> 
      <mapping> 
        <identity value="rim"/> 
        <map value="N/A"/> 
      </mapping> 
    </element> 
  </snapshot> 
  <differential> 
    <element id="Extension">
      <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)). LOINC
       Code: ([48018-6](http://loinc.org/48018-6))."/> 
      <comment 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.extension">
      <path value="Extension.extension"/> 
      <max value="0"/> 
    </element> 
    <element id="Extension.url">
      <path value="Extension.url"/> 
      <fixedUri value="http://hl7.org/fhir/StructureDefinition/observation-geneticsGene"/> 
    </element> 
    <element id="Extension.value[x]">
      <path value="Extension.value[x]"/> 
      <min value="1"/> 
      <type> 
        <code value="CodeableConcept"/> 
      </type> 
      <binding> 
        <extension url="http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName">
          <valueString value="HGNC-geneIdentifiers"/> 
        </extension> 
        <strength value="preferred"/> 
        <description value="International curated set of gene identifiers."/> 
        <valueSet value="http://hl7.org/fhir/ValueSet/genenames"/> 
      </binding> 
    </element> 
  </differential> 
</StructureDefinition>