Extension-observation-geneticsvariant.json

Variant

{
  "resourceType" : "StructureDefinition",
  "id" : "observation-geneticsVariant",
  "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-geneticsVariant",
  "name" : "Variant",
  "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" : "Variant information.",
  "fhirVersion" : "3.5.0",
  "mapping" : [{
    "identity" : "v2",
    "uri" : "http://hl7.org/v2",
    "name" : "HL7 v2 Mapping"
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    "uri" : "http://hl7.org/v3",
    "name" : "RIM Mapping"
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  "kind" : "complex-type",
  "abstract" : false,
  "context" : [{
    "type" : "element",
    "expression" : "Observation"
  }],
  "type" : "Extension",
  "baseDefinition" : "http://hl7.org/fhir/StructureDefinition/Extension",
  "derivation" : "constraint",
  "snapshot" : {
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      "condition" : ["ele-1"],
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        "xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), 'value')])",
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      "comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions.  The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
      "alias" : ["extensions",
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      "definition" : "Human Genome Variation Society (HGVS) nomenclature for a single or set of DNA Sequence Variation(s) identified in testing.  The use of the nomenclature is also used to describe non-variations (aka. wild types). LOINC Code: ([48004-6](http://loinc.org/48004-6)).",
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        "extension" : [{
          "url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
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        }],
        "strength" : "preferred",
        "description" : "NCBI central repository of potentially clinically relevant variants.",
        "valueSet" : "http://hl7.org/fhir/ValueSet/clinvar"
      },
      "mapping" : [{
        "identity" : "rim",
        "map" : "N/A"
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    },
    {
      "id" : "Extension.extension:Id",
      "path" : "Extension.extension",
      "sliceName" : "Id",
      "short" : "DNA sequence variant ID",
      "definition" : "Identifier for DNA sequence variant.  If a germline variant, ClinVar or dbSNP identifier should be used.  If a somatic variant, COSMIC identifier should be used, unless in ClinVar then either maybe used. Need to provide the code system used (ClinVar, dbSNP, COSMIC) LOINC Code: ([48003-8](http://loinc.org/48003-8)).",
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      "isModifier" : false,
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    {
      "id" : "Extension.extension:Id.id",
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      "short" : "xml:id (or equivalent in JSON)",
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      "path" : "Extension.extension.url",
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      "short" : "identifies the meaning of the extension",
      "definition" : "Source of the definition for the extension code - a logical name or a URL.",
      "comment" : "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.",
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      "short" : "identifies the meaning of the extension",
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      "fixedUri" : "http://hl7.org/fhir/StructureDefinition/observation-geneticsVariant",
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      "definition" : "Identifier for DNA sequence variant.  If a germline variant, ClinVar or dbSNP identifier should be used.  If a somatic variant, COSMIC identifier should be used, unless in ClinVar then either maybe used. Need to provide the code system used (ClinVar, dbSNP, COSMIC) LOINC Code: ([48003-8](http://loinc.org/48003-8)).",
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      "path" : "Extension.extension",
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    },
    {
      "id" : "Extension.extension:Type.url",
      "path" : "Extension.extension.url",
      "type" : [{
        "code" : "uri"
      }],
      "fixedUri" : "Type"
    },
    {
      "id" : "Extension.extension:Type.valueCodeableConcept",
      "path" : "Extension.extension.valueCodeableConcept",
      "type" : [{
        "code" : "CodeableConcept"
      }]
    },
    {
      "id" : "Extension.url",
      "path" : "Extension.url",
      "type" : [{
        "code" : "uri"
      }],
      "fixedUri" : "http://hl7.org/fhir/StructureDefinition/observation-geneticsVariant"
    },
    {
      "id" : "Extension.value[x]",
      "path" : "Extension.value[x]",
      "min" : 0,
      "max" : "0"
    }]
  }
}