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{
  "resourceType": "StructureDefinition",
  "id": "observation-geneticsAllelicState",
  "url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsAllelicState",
  "name": "The level of occurrence of a single DNA sequence variant within a set of chromosomes: Heteroplasmic / Homoplasmic / Homozygous / Heterozygous / Hemizygous",
  "status": "draft",
  "publisher": "Health Level Seven International (Clinical Genomics)",
  "contact": [
    {
      "telecom": [
        {
          "system": "url",
          "value": "http://www.hl7.org/Special/committees/clingenomics"
        }
      ]
    }
  ],
  "date": "2016-03-14",
  "description": "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": "1.8.0",
  "mapping": [
    {
      "identity": "rim",
      "uri": "http://hl7.org/v3",
      "name": "RIM Mapping"
    }
  ],
  "kind": "complex-type",
  "abstract": false,
  "contextType": "resource",
  "context": [
    "Observation"
  ],
  "type": "Extension",
  "baseDefinition": "http://hl7.org/fhir/StructureDefinition/Extension",
  "derivation": "constraint",
  "snapshot": {
    "element": [
      {
        "id": "Extension:thelevelofoccurrenceofasinglednasequencevariantwithinasetofchromosomesheteroplasmic/homoplasmic/homozygous/heterozygous/hemizygous",
        "path": "Extension",
        "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. LONIC Code: ([53034-5](http://loinc.org/53034-5)).",
        "min": 0,
        "max": "1",
        "base": {
          "path": "Extension",
          "min": 0,
          "max": "*"
        },
        "condition": [
          "ele-1"
        ],
        "constraint": [
          {
            "key": "ele-1",
            "severity": "error",
            "human": "All FHIR elements must have a @value or children",
            "expression": "children().count() > id.count()",
            "xpath": "@value|f:*|h:div",
            "source": "Element"
          },
          {
            "key": "ext-1",
            "severity": "error",
            "human": "Must have either extensions or value[x], not both",
            "expression": "extension.exists() != value.exists()",
            "xpath": "exists(f:extension)!=exists(f:*[starts-with(local-name(.), 'value')])",
            "source": "Extension"
          }
        ]
      },
      {
        "id": "Extension:thelevelofoccurrenceofasinglednasequencevariantwithinasetofchromosomesheteroplasmic/homoplasmic/homozygous/heterozygous/hemizygous.id",
        "path": "Extension.id",
        "representation": [
          "xmlAttr"
        ],
        "short": "xml:id (or equivalent in JSON)",
        "definition": "unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
        "min": 0,
        "max": "1",
        "base": {
          "path": "Element.id",
          "min": 0,
          "max": "1"
        },
        "type": [
          {
            "code": "string"
          }
        ],
        "mapping": [
          {
            "identity": "rim",
            "map": "n/a"
          }
        ]
      },
      {
        "id": "Extension:thelevelofoccurrenceofasinglednasequencevariantwithinasetofchromosomesheteroplasmic/homoplasmic/homozygous/heterozygous/hemizygous.extension:extension",
        "path": "Extension.extension",
        "sliceName": "extension",
        "short": "Extension",
        "definition": "An Extension",
        "min": 0,
        "max": "0",
        "base": {
          "path": "Element.extension",
          "min": 0,
          "max": "*"
        },
        "type": [
          {
            "code": "Extension"
          }
        ]
      },
      {
        "id": "Extension:thelevelofoccurrenceofasinglednasequencevariantwithinasetofchromosomesheteroplasmic/homoplasmic/homozygous/heterozygous/hemizygous.url",
        "path": "Extension.url",
        "representation": [
          "xmlAttr"
        ],
        "short": "identifies the meaning of the extension",
        "definition": "Source of the definition for the extension code - a logical name or a URL.",
        "comments": "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": 1,
        "max": "1",
        "base": {
          "path": "Extension.url",
          "min": 1,
          "max": "1"
        },
        "type": [
          {
            "code": "uri"
          }
        ],
        "fixedUri": "http://hl7.org/fhir/StructureDefinition/observation-geneticsAllelicState",
        "mapping": [
          {
            "identity": "rim",
            "map": "N/A"
          }
        ]
      },
      {
        "id": "Extension:thelevelofoccurrenceofasinglednasequencevariantwithinasetofchromosomesheteroplasmic/homoplasmic/homozygous/heterozygous/hemizygous.valueCodeableConcept",
        "path": "Extension.valueCodeableConcept",
        "short": "Value of extension",
        "definition": "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": 1,
        "max": "1",
        "base": {
          "path": "Extension.value[x]",
          "min": 0,
          "max": "1"
        },
        "type": [
          {
            "code": "CodeableConcept"
          }
        ],
        "mapping": [
          {
            "identity": "rim",
            "map": "N/A"
          }
        ]
      }
    ]
  },
  "differential": {
    "element": [
      {
        "id": "Extension:thelevelofoccurrenceofasinglednasequencevariantwithinasetofchromosomesheteroplasmic/homoplasmic/homozygous/heterozygous/hemizygous",
        "path": "Extension",
        "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. LONIC Code: ([53034-5](http://loinc.org/53034-5)).",
        "min": 0,
        "max": "1"
      },
      {
        "id": "Extension:thelevelofoccurrenceofasinglednasequencevariantwithinasetofchromosomesheteroplasmic/homoplasmic/homozygous/heterozygous/hemizygous.extension:extension",
        "path": "Extension.extension",
        "sliceName": "extension",
        "max": "0"
      },
      {
        "id": "Extension:thelevelofoccurrenceofasinglednasequencevariantwithinasetofchromosomesheteroplasmic/homoplasmic/homozygous/heterozygous/hemizygous.url",
        "path": "Extension.url",
        "type": [
          {
            "code": "uri"
          }
        ],
        "fixedUri": "http://hl7.org/fhir/StructureDefinition/observation-geneticsAllelicState"
      },
      {
        "id": "Extension:thelevelofoccurrenceofasinglednasequencevariantwithinasetofchromosomesheteroplasmic/homoplasmic/homozygous/heterozygous/hemizygous.value[x]",
        "path": "Extension.value[x]",
        "min": 1,
        "type": [
          {
            "code": "CodeableConcept"
          }
        ]
      }
    ]
  }
}

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

{

}

<name value="The level of occurrence of a single DNA sequence variant within a set of chromosomes: Heteroplasmic / Homoplasmic / Homozygous / Heterozygous / Hemizygous" />