<StructureDefinition xmlns="http://hl7.org/fhir">
  <id value="observation-genetics" />
  <text>
    <status value="generated" />
    <div xmlns="http://www.w3.org/1999/xhtml">to do</div>
  </text>
  <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm">
    <valueInteger value="5" />
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg">
    <valueCode value="oo" />
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status">
    <valueCode value="trial-use" />
  </extension>
  <url value="http://hl7.org/fhir/StructureDefinition/observation-genetics" />
  <version value="4.0.0" />
  <name value="Observation-genetics" />
  <status value="draft" />
  <experimental value="false" />
  <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="Describes how the observation resource is used to report structured genetic test results" />
  <fhirVersion value="4.0.0" />
  <mapping>
    <identity value="workflow" />
    <uri value="http://hl7.org/fhir/workflow" />
    <name value="Workflow Pattern" />
  </mapping>
  <mapping>
    <identity value="sct-concept" />
    <uri value="http://snomed.info/conceptdomain" />
    <name value="SNOMED CT Concept Domain Binding" />
  </mapping>
  <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>
  <mapping>
    <identity value="w5" />
    <uri value="http://hl7.org/fhir/fivews" />
    <name value="FiveWs Pattern Mapping" />
  </mapping>
  <mapping>
    <identity value="sct-attr" />
    <uri value="http://snomed.org/attributebinding" />
    <name value="SNOMED CT Attribute Binding" />
  </mapping>
  <kind value="resource" />
  <abstract value="false" />
  <type value="Observation" />
  <baseDefinition value="http://hl7.org/fhir/StructureDefinition/Observation" />
  <derivation value="constraint" />
  <differential>
    <element id="Observation">
      <path value="Observation" />
      <min value="0" />
      <max value="*" />
    </element>
    <element id="Observation.extension:Gene">
      <path value="Observation.extension" />
      <sliceName value="Gene" />
      <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))." />
      <min value="0" />
      <max value="1" />
      <type>
        <code value="Extension" />
        <profile value="http://hl7.org/fhir/StructureDefinition/observation-geneticsGene" />
      </type>
    </element>
    <element id="Observation.extension:DNARegionName">
      <path value="Observation.extension" />
      <sliceName value="DNARegionName" />
      <short value="DNA region name" />
      <definition value="A human readable name for the region of interest. Typically Exon #, Intron # or other. NOTE: This is not standardized and is mainly for convenience and display purposes.  LOINC Code: ([47999-8](http://loinc.org/47999-8))." />
      <min value="0" />
      <max value="1" />
      <type>
        <code value="Extension" />
        <profile value="http://hl7.org/fhir/StructureDefinition/observation-geneticsDNARegionName" />
      </type>
    </element>
    <element id="Observation.extension:CopyNumberEvent">
      <path value="Observation.extension" />
      <sliceName value="CopyNumberEvent" />
      <short value="Copy number variation" />
      <definition value="A variation that increases or decreases the copy number of a given region ([SO:0001019](http://www.sequenceontology.org/browser/current_svn/term/SO:0001019)). Values: amplification/deletion/LOH." />
      <min value="0" />
      <max value="1" />
      <type>
        <code value="Extension" />
        <profile value="http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent" />
      </type>
    </element>
    <element id="Observation.extension:GenomicSourceClass">
      <path value="Observation.extension" />
      <sliceName value="GenomicSourceClass" />
      <short value="Genomic source class" />
      <definition value="Source of sample used to determine the sequence in sequencing lab -- germline, somatic, prenatal. LOINC Code: ([48002-0](http://loinc.org/48002-0))." />
      <min value="0" />
      <max value="1" />
      <type>
        <code value="Extension" />
        <profile value="http://hl7.org/fhir/StructureDefinition/observation-geneticsGenomicSourceClass" />
      </type>
    </element>
    <element id="Observation.extension:Interpretation">
      <path value="Observation.extension" />
      <sliceName value="Interpretation" />
      <short value="Clinical interpretations for variant" />
      <definition value="Clinical Interpretations for variant. It's a reference to an Observation resource." />
      <min value="0" />
      <max value="1" />
      <type>
        <code value="Extension" />
        <profile value="http://hl7.org/fhir/StructureDefinition/observation-geneticsInterpretation" />
      </type>
    </element>
    <element id="Observation.extension:Variant">
      <path value="Observation.extension" />
      <sliceName value="Variant" />
      <short value="Variant" />
      <definition value="Variant information." />
      <min value="0" />
      <max value="1" />
      <type>
        <code value="Extension" />
        <profile value="http://hl7.org/fhir/StructureDefinition/observation-geneticsVariant" />
      </type>
    </element>
    <element id="Observation.extension:AminoAcidChange">
      <path value="Observation.extension" />
      <sliceName value="AminoAcidChange" />
      <short value="AminoAcidChange" />
      <definition value="AminoAcidChange information." />
      <comment value="Loss of heterozygosity (LOH) is a functional variant whereby the sequence alteration causes a loss of function of one allele of a gene ([SO:0001786](http://www.sequenceontology.org/browser/current_svn/term/SO:0001786))." />
      <min value="0" />
      <max value="1" />
      <type>
        <code value="Extension" />
        <profile value="http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChange" />
      </type>
    </element>
    <element id="Observation.extension:Allele">
      <path value="Observation.extension" />
      <sliceName value="Allele" />
      <short value="Allele" />
      <definition value="Allele information." />
      <min value="0" />
      <max value="1" />
      <type>
        <code value="Extension" />
        <profile value="http://hl7.org/fhir/StructureDefinition/observation-geneticsAllele" />
      </type>
    </element>
    <element id="Observation.extension:Ancestry">
      <path value="Observation.extension" />
      <sliceName value="Ancestry" />
      <short value="Ancestry" />
      <definition value="Ancestry information." />
      <min value="0" />
      <max value="1" />
      <type>
        <code value="Extension" />
        <profile value="http://hl7.org/fhir/StructureDefinition/observation-geneticsAncestry" />
      </type>
    </element>
    <element id="Observation.extension:PhaseSet">
      <path value="Observation.extension" />
      <sliceName value="PhaseSet" />
      <short value="Phase set" />
      <definition value="Phase set information." />
      <min value="0" />
      <max value="*" />
      <type>
        <code value="Extension" />
        <profile value="http://hl7.org/fhir/StructureDefinition/observation-geneticsPhaseSet" />
      </type>
    </element>
  </differential>
</StructureDefinition>