{
  "resourceType": "StructureDefinition",
  "id": "observation-geneticsAllele",
  "extension": [
    {
      "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
      "valueCode": "oo"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm",
      "valueInteger": 1
    }
  ],
  "url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsAllele",
  "version": "4.0.0",
  "name": "Allele",
  "status": "draft",
  "date": "2016-03-14",
  "publisher": "Health Level Seven International (Clinical Genomics)",
  "contact": [
    {
      "telecom": [
        {
          "system": "url",
          "value": "http://www.hl7.org/Special/committees/clingenomics"
        }
      ]
    }
  ],
  "description": "Allele information.",
  "fhirVersion": "4.0.0",
  "mapping": [
    {
      "identity": "v2",
      "uri": "http://hl7.org/v2",
      "name": "HL7 v2 Mapping"
    },
    {
      "identity": "rim",
      "uri": "http://hl7.org/v3",
      "name": "RIM Mapping"
    }
  ],
  "kind": "complex-type",
  "abstract": false,
  "context": [
    {
      "type": "element",
      "expression": "Observation"
    }
  ],
  "type": "Extension",
  "baseDefinition": "http://hl7.org/fhir/StructureDefinition/Extension",
  "derivation": "constraint",
  "differential": {
    "element": [
      {
        "id": "Extension",
        "path": "Extension",
        "short": "Allele",
        "definition": "Allele information.",
        "min": 0,
        "max": "1"
      },
      {
        "id": "Extension.extension:Name",
        "path": "Extension.extension",
        "sliceName": "Name",
        "short": "Name of allele",
        "definition": "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": 0,
        "max": "1",
        "type": [
          {
            "code": "Extension"
          }
        ],
        "mapping": [
          {
            "identity": "v2",
            "map": "N/A"
          },
          {
            "identity": "rim",
            "map": "N/A"
          }
        ]
      },
      {
        "id": "Extension.extension:Name.extension",
        "path": "Extension.extension.extension",
        "max": "0"
      },
      {
        "id": "Extension.extension:Name.url",
        "path": "Extension.extension.url",
        "type": [
          {
            "code": "uri"
          }
        ],
        "fixedUri": "Name"
      },
      {
        "id": "Extension.extension:Name.valueCodeableConcept",
        "path": "Extension.extension.valueCodeableConcept",
        "type": [
          {
            "code": "CodeableConcept"
          }
        ],
        "binding": {
          "extension": [
            {
              "url": "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
              "valueString": "EBI-AlleleName"
            }
          ],
          "strength": "preferred",
          "description": "EMBL-EBI database of AlleleName.",
          "valueSet": "http://hl7.org/fhir/ValueSet/allelename"
        }
      },
      {
        "id": "Extension.extension:State",
        "path": "Extension.extension",
        "sliceName": "State",
        "short": "The level of occurrence of a single DNA sequence variant within a set of chromosomes: Heteroplasmic / Homoplasmic / Homozygous / Heterozygous / Hemizygous",
        "definition": "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": 0,
        "max": "1",
        "type": [
          {
            "code": "Extension"
          }
        ]
      },
      {
        "id": "Extension.extension:State.extension",
        "path": "Extension.extension.extension",
        "max": "0"
      },
      {
        "id": "Extension.extension:State.url",
        "path": "Extension.extension.url",
        "type": [
          {
            "code": "uri"
          }
        ],
        "fixedUri": "State"
      },
      {
        "id": "Extension.extension:State.valueCodeableConcept",
        "path": "Extension.extension.valueCodeableConcept",
        "type": [
          {
            "code": "CodeableConcept"
          }
        ]
      },
      {
        "id": "Extension.extension:Frequency",
        "path": "Extension.extension",
        "sliceName": "Frequency",
        "short": "Allele frequency",
        "definition": "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": 0,
        "max": "1",
        "type": [
          {
            "code": "Extension"
          }
        ]
      },
      {
        "id": "Extension.extension:Frequency.extension",
        "path": "Extension.extension.extension",
        "max": "0"
      },
      {
        "id": "Extension.extension:Frequency.url",
        "path": "Extension.extension.url",
        "type": [
          {
            "code": "uri"
          }
        ],
        "fixedUri": "Frequency"
      },
      {
        "id": "Extension.extension:Frequency.valueDecimal",
        "path": "Extension.extension.valueDecimal",
        "type": [
          {
            "code": "decimal"
          }
        ]
      },
      {
        "id": "Extension.url",
        "path": "Extension.url",
        "type": [
          {
            "code": "uri"
          }
        ],
        "fixedUri": "http://hl7.org/fhir/StructureDefinition/observation-geneticsAllele"
      },
      {
        "id": "Extension.value[x]",
        "path": "Extension.value[x]",
        "min": 0,
        "max": "0"
      }
    ]
  }
}