Extension-observation-geneticsallelicstate.xml

The level of occurrence of a single DNA sequence variant within a set of chromosomes: Heteroplasmic / Homoplasmic / Homozygous / Heterozygous / Hemizygous

<StructureDefinition xmlns="http://hl7.org/fhir">
  <id value="observation-geneticsAllelicState"/>
  <url value="http://hl7.org/fhir/StructureDefinition/observation-geneticsAllelicState"/>
  <name value="The level of occurrence of a single DNA sequence variant within a set of chromosomes:
   Heteroplasmic / Homoplasmic / Homozygous / Heterozygous / Hemizygous"/>
  <status value="draft"/>
  <publisher value="Health Level Seven International (Clinical Genomics)"/>
  <contact>
    <telecom>
      <system value="url"/>
      <value value="http://www.hl7.org/Special/committees/clingenomics"/>
    </telecom>
  </contact>
  <date value="2016-03-14"/>
  <description 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. LONIC Code: ([53034-5](http://loinc.org/53034-5))."/>
  <fhirVersion value="1.8.0"/>
  <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:thelevelofoccurrenceofasinglednasequencevariantwithinasetofchromosomesheteroplasmic/homopl
    asmic/homozygous/heterozygous/hemizygous">
      <path value="Extension"/>
      <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. LONIC Code: ([53034-5](http://loinc.org/53034-5))."/>
      <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"/>
        <source value="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="Extension"/>
      </constraint>
    </element>
    <element id="Extension:thelevelofoccurrenceofasinglednasequencevariantwithinasetofchromosomesheteroplasmic/homopl
    asmic/homozygous/heterozygous/hemizygous.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="1"/>
      </base>
      <type>
        <code value="string"/>
      </type>
      <mapping>
        <identity value="rim"/>
        <map value="n/a"/>
      </mapping>
    </element>
    <element id="Extension:thelevelofoccurrenceofasinglednasequencevariantwithinasetofchromosomesheteroplasmic/homopl
    asmic/homozygous/heterozygous/hemizygous.extension:extension">
      <path value="Extension.extension"/>
      <sliceName 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:thelevelofoccurrenceofasinglednasequencevariantwithinasetofchromosomesheteroplasmic/homopl
    asmic/homozygous/heterozygous/hemizygous.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-geneticsAllelicState"/>
      <mapping>
        <identity value="rim"/>
        <map value="N/A"/>
      </mapping>
    </element>
    <element id="Extension:thelevelofoccurrenceofasinglednasequencevariantwithinasetofchromosomesheteroplasmic/homopl
    asmic/homozygous/heterozygous/hemizygous.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:thelevelofoccurrenceofasinglednasequencevariantwithinasetofchromosomesheteroplasmic/homopl
    asmic/homozygous/heterozygous/hemizygous">
      <path value="Extension"/>
      <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. LONIC Code: ([53034-5](http://loinc.org/53034-5))."/>
      <min value="0"/>
      <max value="1"/>
    </element>
    <element id="Extension:thelevelofoccurrenceofasinglednasequencevariantwithinasetofchromosomesheteroplasmic/homopl
    asmic/homozygous/heterozygous/hemizygous.extension:extension">
      <path value="Extension.extension"/>
      <sliceName value="extension"/>
      <max value="0"/>
    </element>
    <element id="Extension:thelevelofoccurrenceofasinglednasequencevariantwithinasetofchromosomesheteroplasmic/homopl
    asmic/homozygous/heterozygous/hemizygous.url">
      <path value="Extension.url"/>
      <type>
        <code value="uri"/>
      </type>
      <fixedUri value="http://hl7.org/fhir/StructureDefinition/observation-geneticsAllelicState"/>
    </element>
    <element id="Extension:thelevelofoccurrenceofasinglednasequencevariantwithinasetofchromosomesheteroplasmic/homopl
    asmic/homozygous/heterozygous/hemizygous.value[x]">
      <path value="Extension.value[x]"/>
      <min value="1"/>
      <type>
        <code value="CodeableConcept"/>
      </type>
    </element>
  </differential>
</StructureDefinition>