<StructureDefinition xmlns="http://hl7.org/fhir">
  <id value="observation-geneticsAllele" />
  <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-geneticsAllele" />
  <version value="4.0.0" />
  <name value="Allele" />
  <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="Allele information." />
  <fhirVersion value="4.0.0" />
  <mapping>
    <identity value="v2" />
    <uri value="http://hl7.org/v2" />
    <name value="HL7 v2 Mapping" />
  </mapping>
  <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" />
  <differential>
    <element id="Extension">
      <path value="Extension" />
      <short value="Allele" />
      <definition value="Allele information." />
      <min value="0" />
      <max value="1" />
    </element>
    <element id="Extension.extension:Name">
      <path value="Extension.extension" />
      <sliceName value="Name" />
      <short value="Name of allele" />
      <definition value="An allele is one of a set of coexisting sequence variants of a gene ([SO:0001023](http://www.sequenceontology.org/browser/current_svn/term/SO:0001023)). This element is the common name for the allele. LOINC Code: ([48008-7](http://loinc.org/48008-7))." />
      <min value="0" />
      <max value="1" />
      <type>
        <code value="Extension" />
      </type>
      <mapping>
        <identity value="v2" />
        <map value="N/A" />
      </mapping>
      <mapping>
        <identity value="rim" />
        <map value="N/A" />
      </mapping>
    </element>
    <element id="Extension.extension:Name.extension">
      <path value="Extension.extension.extension" />
      <max value="0" />
    </element>
    <element id="Extension.extension:Name.url">
      <path value="Extension.extension.url" />
      <type>
        <code value="uri" />
      </type>
      <fixedUri value="Name" />
    </element>
    <element id="Extension.extension:Name.valueCodeableConcept">
      <path value="Extension.extension.valueCodeableConcept" />
      <type>
        <code value="CodeableConcept" />
      </type>
      <binding>
        <extension url="http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName">
          <valueString value="EBI-AlleleName" />
        </extension>
        <strength value="preferred" />
        <description value="EMBL-EBI database of AlleleName." />
        <valueSet value="http://hl7.org/fhir/ValueSet/allelename" />
      </binding>
    </element>
    <element id="Extension.extension:State">
      <path value="Extension.extension" />
      <sliceName value="State" />
      <short value="The level of occurrence of a single DNA sequence variant within a set of chromosomes: Heteroplasmic / Homoplasmic / Homozygous / Heterozygous / Hemizygous" />
      <definition value="The level of occurrence of a single DNA Sequence Variant within a set of chromosomes. Heterozygous indicates the DNA sequence variant is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Sequence Variant is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Sequence Variant exists in the only single copy of a gene in a non-homologous chromosome (the male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Sequence Variant is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Sequence Variant is present in all of the copies of mitochondrial DNA. LOINC Code: ([53034-5](http://loinc.org/53034-5))." />
      <min value="0" />
      <max value="1" />
      <type>
        <code value="Extension" />
      </type>
    </element>
    <element id="Extension.extension:State.extension">
      <path value="Extension.extension.extension" />
      <max value="0" />
    </element>
    <element id="Extension.extension:State.url">
      <path value="Extension.extension.url" />
      <type>
        <code value="uri" />
      </type>
      <fixedUri value="State" />
    </element>
    <element id="Extension.extension:State.valueCodeableConcept">
      <path value="Extension.extension.valueCodeableConcept" />
      <type>
        <code value="CodeableConcept" />
      </type>
    </element>
    <element id="Extension.extension:Frequency">
      <path value="Extension.extension" />
      <sliceName value="Frequency" />
      <short value="Allele frequency" />
      <definition value="A physical quality which inheres to the allele by virtue of the number instances of the allele within a population. LOINC Code: ([81258-6](http://loinc.org/81258-6))." />
      <min value="0" />
      <max value="1" />
      <type>
        <code value="Extension" />
      </type>
    </element>
    <element id="Extension.extension:Frequency.extension">
      <path value="Extension.extension.extension" />
      <max value="0" />
    </element>
    <element id="Extension.extension:Frequency.url">
      <path value="Extension.extension.url" />
      <type>
        <code value="uri" />
      </type>
      <fixedUri value="Frequency" />
    </element>
    <element id="Extension.extension:Frequency.valueDecimal">
      <path value="Extension.extension.valueDecimal" />
      <type>
        <code value="decimal" />
      </type>
    </element>
    <element id="Extension.url">
      <path value="Extension.url" />
      <type>
        <code value="uri" />
      </type>
      <fixedUri value="http://hl7.org/fhir/StructureDefinition/observation-geneticsAllele" />
    </element>
    <element id="Extension.value[x]">
      <path value="Extension.value[x]" />
      <min value="0" />
      <max value="0" />
    </element>
  </differential>
</StructureDefinition>