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{
  "resourceType": "StructureDefinition",
  "id": "observation-geneticsCopyNumberEvent",
  "url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent",
  "name": "Copy number variation",
  "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": "A variation that increases or decreases the copy number of a given region ([SO:0001019](http://www.sequenceontology.org/browser/current_svn/term/SO:0001019)). Values: amplification/deletion/LOH.",
  "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:copynumbervariation",
        "path": "Extension",
        "short": "Copy number variation",
        "definition": "A variation that increases or decreases the copy number of a given region ([SO:0001019](http://www.sequenceontology.org/browser/current_svn/term/SO:0001019)). Values: amplification/deletion/LOH.",
        "comments": "Loss of heterozygosity (LOH) is a functional variant whereby the sequence alteration causes a loss of function of one allele of a gene ([SO:0001786](http://www.sequenceontology.org/browser/current_svn/term/SO:0001786)).",
        "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:copynumbervariation.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:copynumbervariation.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:copynumbervariation.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-geneticsCopyNumberEvent",
        "mapping": [
          {
            "identity": "rim",
            "map": "N/A"
          }
        ]
      },
      {
        "id": "Extension:copynumbervariation.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:copynumbervariation",
        "path": "Extension",
        "short": "Copy number variation",
        "definition": "A variation that increases or decreases the copy number of a given region ([SO:0001019](http://www.sequenceontology.org/browser/current_svn/term/SO:0001019)). Values: amplification/deletion/LOH.",
        "comments": "Loss of heterozygosity (LOH) is a functional variant whereby the sequence alteration causes a loss of function of one allele of a gene ([SO:0001786](http://www.sequenceontology.org/browser/current_svn/term/SO:0001786)).",
        "min": 0,
        "max": "1"
      },
      {
        "id": "Extension:copynumbervariation.extension:extension",
        "path": "Extension.extension",
        "sliceName": "extension",
        "max": "0"
      },
      {
        "id": "Extension:copynumbervariation.url",
        "path": "Extension.url",
        "type": [
          {
            "code": "uri"
          }
        ],
        "fixedUri": "http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent"
      },
      {
        "id": "Extension:copynumbervariation.value[x]",
        "path": "Extension.value[x]",
        "min": 1,
        "type": [
          {
            "code": "CodeableConcept"
          }
        ]
      }
    ]
  }
}

name : Copy number variation

{

}