Extension-icState.json

Variant allelic state

{
  "resourceType": "ExtensionDefinition",
  "id": "ProfilegeneticsAllelicState",
  "url": "http://hl7.org/fhir/ProfilegeneticsAllelicState",
  "name": "Variant allelic state",
  "publisher": "Mollie Ullman-Cullere",
  "contact": [
    {
      "telecom": [
        {
          "system": "url",
          "value": "mullmancullere@partners.org"
        }
      ]
    }
  ],
  "description": "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": "draft",
  "date": "2014-12-07",
  "contextType": "resource",
  "context": [
    "Observation"
  ],
  "element": [
    {
      "path": "Extension",
      "short": "Variant allelic state",
      "definition": "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": 0,
      "max": "1",
      "type": [
        {
          "code": "string"
        }
      ]
    }
  ]
}