Extension-icState.xml

Variant allelic state

Raw XML

<ExtensionDefinition xmlns="http://hl7.org/fhir">
  <id value="ProfilegeneticsAllelicState"/>
  <url value="http://hl7.org/fhir/ProfilegeneticsAllelicState"/>
  <name value="Variant allelic state"/>
  <publisher value="Mollie Ullman-Cullere"/>
  <contact>
    <telecom>
      <system value="url"/>
      <value value="mullmancullere@partners.org"/>
    </telecom>
  </contact>
  <description value="The level of occurrence of a single DNA Sequence Variation.  Heterozygous:Variation present
   in one of the two genes of homologous chromosomes, while Homozygous means that it is present
   in both genes.  Hemizygous: Variation exists in the only single copy of a gene in a non-homologous
   chromosome (i.e. male X and Y chromosome).  Hemiplasmic indicates that the DNA Sequence
   Variation is present in some but not all of the copies of mitochondrial DNA.  Homoplasmic:
   Variation is present in all of the copies of mitochondrial DNA. LOINC Answer List values
   53034-5."/>
  <status value="draft"/>
  <date value="2014-12-07"/>
  <contextType value="resource"/>
  <context value="Observation"/>
  <element>
    <path value="Extension"/>
    <short value="Variant allelic state"/>
    <definition value="The level of occurrence of a single DNA Sequence Variation.  Heterozygous:Variation present
     in one of the two genes of homologous chromosomes, while Homozygous means that it is present
     in both genes.  Hemizygous: Variation exists in the only single copy of a gene in a non-homologous
     chromosome (i.e. male X and Y chromosome).  Hemiplasmic indicates that the DNA Sequence
     Variation is present in some but not all of the copies of mitochondrial DNA.  Homoplasmic:
     Variation is present in all of the copies of mitochondrial DNA. LOINC Answer List values
     53034-5."/>
    <min value="0"/>
    <max value="1"/>
    <type>
      <code value="string"/>
    </type>
  </element>
</ExtensionDefinition>