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FHIR IG Statistics: StructureDefinition/genomic-study-analysis-regions

Packagehl7.fhir.uv.genomics-reporting
TypeStructureDefinition
Idgenomic-study-analysis-regions
FHIR VersionR4
Sourcehttp://hl7.org/fhir/uv/genomics-reporting/https://build.fhir.org/ig/HL7/genomics-reporting/StructureDefinition-genomic-study-analysis-regions.html
URLhttp://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions
Version4.0.0-ballot
Statusactive
Date2025-06-24T17:31:37+00:00
NameGenomicStudyAnalysisRegions
TitleGenomic Study Analysis Regions
Realmuv
Authorityhl7
DescriptionDefines the regions studied, regions called, and regions deemed uncallable (generally due to low coverage)
TypeExtension
Kindcomplex-type

Resources that use this resource

StructureDefinition
genomic-study-analysisGenomic Study Analysis

Resources that this resource uses

StructureDefinition
genomic-data-fileGenomic Data File
ValueSet
hgnc-vsHUGO Gene Nomenclature Committee Gene Names (HGNC)

Narrative

Note: links and images are rebased to the (stated) source

Generated Narrative: StructureDefinition genomic-study-analysis-regions

NameFlagsCard.TypeDescription & Constraintsdoco
.. Extension 0..*ExtensionGenomic Study Analysis Regions
... Slices for extension Content/Rules for all slices
.... extension:description 0..1ExtensionRegions Studied Description
..... extension 0..0
..... url 1..1uri"description"
..... value[x] 0..1stringValue of extension
.... extension:studied 0..*ExtensionGenes or Regions Studied (GenomicStudy.analysis.regionsStudied)
..... extension 0..0
..... url 1..1uri"studied"
..... value[x] 1..1Gene codes or BED file
Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible)
...... valueCodeableConceptCodeableConcept
...... valueReferenceReference(Genomic Data File)
.... extension:called 0..*ExtensionGenes or Regions Called (GenomicStudy.analysis.regionsCalled)
..... extension 0..0
..... url 1..1uri"called"
..... value[x] 1..1Gene codes or BED file
Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible)
...... valueCodeableConceptCodeableConcept
...... valueReferenceReference(Genomic Data File)
.... extension:uncalled 0..*ExtensionGenes or Regions Uncalled
..... extension 0..0
..... url 1..1uri"uncalled"
..... value[x] 1..1Gene codes or BED file
Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible)
...... valueCodeableConceptCodeableConcept
...... valueReferenceReference(Genomic Data File)
... url 1..1uri"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions"
... value[x] 0..0

doco Documentation for this format

Source

{
  "resourceType": "StructureDefinition",
  "id": "genomic-study-analysis-regions",
  "text": {
    "status": "extensions",
    "div": "<!-- snip (see above) -->"
  },
  "extension": [
    {
      "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
      "valueCode": "cg"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm",
      "valueInteger": 2,
      "_valueInteger": {
        "extension": [
          {
            "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom",
            "valueCanonical": "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"
          }
        ]
      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
      "valueCode": "trial-use",
      "_valueCode": {
        "extension": [
          {
            "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom",
            "valueCanonical": "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"
          }
        ]
      }
    }
  ],
  "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions",
  "version": "4.0.0-ballot",
  "name": "GenomicStudyAnalysisRegions",
  "title": "Genomic Study Analysis Regions",
  "status": "active",
  "date": "2025-06-24T17:31:37+00:00",
  "publisher": "HL7 International / Clinical Genomics",
  "contact": [
    {
      "name": "HL7 International / Clinical Genomics",
      "telecom": [
        {
          "system": "url",
          "value": "http://www.hl7.org/Special/committees/clingenomics"
        },
        {
          "system": "email",
          "value": "cg@lists.HL7.org"
        }
      ]
    }
  ],
  "description": "Defines the regions studied, regions called, and regions deemed uncallable (generally due to low coverage)",
  "jurisdiction": [
    {
      "coding": [
        {
          "system": "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code": "001",
          "display": "World"
        }
      ]
    }
  ],
  "fhirVersion": "4.0.1",
  "mapping": [
    {
      "identity": "rim",
      "uri": "http://hl7.org/v3",
      "name": "RIM Mapping"
    }
  ],
  "kind": "complex-type",
  "abstract": false,
  "context": [
    {
      "type": "element",
      "expression": "Procedure"
    }
  ],
  "type": "Extension",
  "baseDefinition": "http://hl7.org/fhir/StructureDefinition/Extension",
  "derivation": "constraint",
  "snapshot": {
    "extension": [
      {
        "url": "http://hl7.org/fhir/tools/StructureDefinition/snapshot-base-version",
        "valueString": "4.0.1"
      }
    ],
    "element": [
      {
        "id": "Extension",
        "path": "Extension",
        "short": "Genomic Study Analysis Regions",
        "definition": "Defines the regions studied, regions called, and regions deemed uncallable (generally due to low coverage)",
        "min": 0,
        "max": "*",
        "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": "hasValue() or (children().count() > id.count())",
            "xpath": "@value|f:*|h:div",
            "source": "http://hl7.org/fhir/StructureDefinition/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": "http://hl7.org/fhir/StructureDefinition/Extension"
          }
        ],
        "isModifier": false
      },
      {
        "id": "Extension.id",
        "path": "Extension.id",
        "representation": [
          "xmlAttr"
        ],
        "short": "Unique id for inter-element referencing",
        "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": [
          {
            "extension": [
              {
                "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
                "valueUrl": "string"
              }
            ],
            "code": "http://hl7.org/fhirpath/System.String"
          }
        ],
        "isModifier": false,
        "isSummary": false,
        "mapping": [
          {
            "identity": "rim",
            "map": "n/a"
          }
        ]
      },
      {
        "id": "Extension.extension",
        "path": "Extension.extension",
        "slicing": {
          "discriminator": [
            {
              "type": "value",
              "path": "url"
            }
          ],
          "description": "Extensions are always sliced by (at least) url",
          "rules": "open"
        },
        "short": "Additional content defined by implementations",
        "definition": "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance  applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
        "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",
          "user content"
        ],
        "min": 0,
        "max": "*",
        "base": {
          "path": "Element.extension",
          "min": 0,
          "max": "*"
        },
        "type": [
          {
            "code": "Extension"
          }
        ],
        "constraint": [
          {
            "key": "ele-1",
            "severity": "error",
            "human": "All FHIR elements must have a @value or children",
            "expression": "hasValue() or (children().count() > id.count())",
            "xpath": "@value|f:*|h:div",
            "source": "http://hl7.org/fhir/StructureDefinition/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": "http://hl7.org/fhir/StructureDefinition/Extension"
          }
        ],
        "isModifier": false,
        "isSummary": false,
        "mapping": [
          {
            "identity": "rim",
            "map": "n/a"
          }
        ]
      },
      {
        "id": "Extension.extension:description",
        "path": "Extension.extension",
        "sliceName": "description",
        "short": "Regions Studied Description",
        "definition": "Freetext description of the regions studied for the sequencing test",
        "min": 0,
        "max": "1",
        "base": {
          "path": "Element.extension",
          "min": 0,
          "max": "*"
        },
        "type": [
          {
            "code": "Extension"
          }
        ],
        "constraint": [
          {
            "key": "ele-1",
            "severity": "error",
            "human": "All FHIR elements must have a @value or children",
            "expression": "hasValue() or (children().count() > id.count())",
            "xpath": "@value|f:*|h:div",
            "source": "http://hl7.org/fhir/StructureDefinition/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": "http://hl7.org/fhir/StructureDefinition/Extension"
          }
        ],
        "isModifier": false,
        "isSummary": false
      },
      {
        "id": "Extension.extension:description.id",
        "path": "Extension.extension.id",
        "representation": [
          "xmlAttr"
        ],
        "short": "Unique id for inter-element referencing",
        "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": [
          {
            "extension": [
              {
                "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
                "valueUrl": "string"
              }
            ],
            "code": "http://hl7.org/fhirpath/System.String"
          }
        ],
        "isModifier": false,
        "isSummary": false,
        "mapping": [
          {
            "identity": "rim",
            "map": "n/a"
          }
        ]
      },
      {
        "id": "Extension.extension:description.extension",
        "path": "Extension.extension.extension",
        "slicing": {
          "discriminator": [
            {
              "type": "value",
              "path": "url"
            }
          ],
          "description": "Extensions are always sliced by (at least) url",
          "rules": "open"
        },
        "short": "Extension",
        "definition": "An Extension",
        "min": 0,
        "max": "0",
        "base": {
          "path": "Element.extension",
          "min": 0,
          "max": "*"
        },
        "type": [
          {
            "code": "Extension"
          }
        ],
        "constraint": [
          {
            "key": "ele-1",
            "severity": "error",
            "human": "All FHIR elements must have a @value or children",
            "expression": "hasValue() or (children().count() > id.count())",
            "xpath": "@value|f:*|h:div",
            "source": "http://hl7.org/fhir/StructureDefinition/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": "http://hl7.org/fhir/StructureDefinition/Extension"
          }
        ],
        "isModifier": false,
        "isSummary": false
      },
      {
        "id": "Extension.extension:description.url",
        "path": "Extension.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.",
        "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.",
        "min": 1,
        "max": "1",
        "base": {
          "path": "Extension.url",
          "min": 1,
          "max": "1"
        },
        "type": [
          {
            "extension": [
              {
                "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
                "valueUrl": "uri"
              }
            ],
            "code": "http://hl7.org/fhirpath/System.String"
          }
        ],
        "fixedUri": "description",
        "isModifier": false,
        "isSummary": false,
        "mapping": [
          {
            "identity": "rim",
            "map": "N/A"
          }
        ]
      },
      {
        "id": "Extension.extension:description.value[x]",
        "path": "Extension.extension.value[x]",
        "short": "Value of extension",
        "definition": "Value of extension - must be one of a constrained set of the data types (see [Extensibility](http://hl7.org/fhir/R4/extensibility.html) for a list).",
        "min": 0,
        "max": "1",
        "base": {
          "path": "Extension.value[x]",
          "min": 0,
          "max": "1"
        },
        "type": [
          {
            "code": "string"
          }
        ],
        "constraint": [
          {
            "key": "ele-1",
            "severity": "error",
            "human": "All FHIR elements must have a @value or children",
            "expression": "hasValue() or (children().count() > id.count())",
            "xpath": "@value|f:*|h:div",
            "source": "http://hl7.org/fhir/StructureDefinition/Element"
          }
        ],
        "isModifier": false,
        "isSummary": false,
        "mapping": [
          {
            "identity": "rim",
            "map": "N/A"
          }
        ]
      },
      {
        "id": "Extension.extension:studied",
        "path": "Extension.extension",
        "sliceName": "studied",
        "short": "Genes or Regions Studied (GenomicStudy.analysis.regionsStudied)",
        "definition": "The genes or regions that were studied in the analysis.",
        "requirements": "Shared as a coded list of HGNC gene symbols or a BED file. For coded genes, the HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. If details beyond a coded list of genes are needed, a BED file SHALL be used to further describe the regions studied in the analysis.",
        "min": 0,
        "max": "*",
        "base": {
          "path": "Element.extension",
          "min": 0,
          "max": "*"
        },
        "type": [
          {
            "code": "Extension"
          }
        ],
        "constraint": [
          {
            "key": "ele-1",
            "severity": "error",
            "human": "All FHIR elements must have a @value or children",
            "expression": "hasValue() or (children().count() > id.count())",
            "xpath": "@value|f:*|h:div",
            "source": "http://hl7.org/fhir/StructureDefinition/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": "http://hl7.org/fhir/StructureDefinition/Extension"
          }
        ],
        "isModifier": false,
        "isSummary": false
      },
      {
        "id": "Extension.extension:studied.id",
        "path": "Extension.extension.id",
        "representation": [
          "xmlAttr"
        ],
        "short": "Unique id for inter-element referencing",
        "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": [
          {
            "extension": [
              {
                "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
                "valueUrl": "string"
              }
            ],
            "code": "http://hl7.org/fhirpath/System.String"
          }
        ],
        "isModifier": false,
        "isSummary": false,
        "mapping": [
          {
            "identity": "rim",
            "map": "n/a"
          }
        ]
      },
      {
        "id": "Extension.extension:studied.extension",
        "path": "Extension.extension.extension",
        "slicing": {
          "discriminator": [
            {
              "type": "value",
              "path": "url"
            }
          ],
          "description": "Extensions are always sliced by (at least) url",
          "rules": "open"
        },
        "short": "Extension",
        "definition": "An Extension",
        "min": 0,
        "max": "0",
        "base": {
          "path": "Element.extension",
          "min": 0,
          "max": "*"
        },
        "type": [
          {
            "code": "Extension"
          }
        ],
        "constraint": [
          {
            "key": "ele-1",
            "severity": "error",
            "human": "All FHIR elements must have a @value or children",
            "expression": "hasValue() or (children().count() > id.count())",
            "xpath": "@value|f:*|h:div",
            "source": "http://hl7.org/fhir/StructureDefinition/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": "http://hl7.org/fhir/StructureDefinition/Extension"
          }
        ],
        "isModifier": false,
        "isSummary": false
      },
      {
        "id": "Extension.extension:studied.url",
        "path": "Extension.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.",
        "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.",
        "min": 1,
        "max": "1",
        "base": {
          "path": "Extension.url",
          "min": 1,
          "max": "1"
        },
        "type": [
          {
            "extension": [
              {
                "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
                "valueUrl": "uri"
              }
            ],
            "code": "http://hl7.org/fhirpath/System.String"
          }
        ],
        "fixedUri": "studied",
        "isModifier": false,
        "isSummary": false,
        "mapping": [
          {
            "identity": "rim",
            "map": "N/A"
          }
        ]
      },
      {
        "id": "Extension.extension:studied.value[x]",
        "path": "Extension.extension.value[x]",
        "short": "Gene codes or BED file",
        "definition": "Value of extension - must be one of a constrained set of the data types (see [Extensibility](http://hl7.org/fhir/R4/extensibility.html) for a list).",
        "min": 1,
        "max": "1",
        "base": {
          "path": "Extension.value[x]",
          "min": 0,
          "max": "1"
        },
        "type": [
          {
            "code": "CodeableConcept"
          },
          {
            "code": "Reference",
            "targetProfile": [
              "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-data-file"
            ]
          }
        ],
        "constraint": [
          {
            "key": "ele-1",
            "severity": "error",
            "human": "All FHIR elements must have a @value or children",
            "expression": "hasValue() or (children().count() > id.count())",
            "xpath": "@value|f:*|h:div",
            "source": "http://hl7.org/fhir/StructureDefinition/Element"
          }
        ],
        "isModifier": false,
        "isSummary": false,
        "binding": {
          "strength": "extensible",
          "valueSet": "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs"
        },
        "mapping": [
          {
            "identity": "rim",
            "map": "N/A"
          }
        ]
      },
      {
        "id": "Extension.extension:called",
        "path": "Extension.extension",
        "sliceName": "called",
        "short": "Genes or Regions Called (GenomicStudy.analysis.regionsCalled)",
        "definition": "The genes or regions that were studied for the analysis with sufficient coverage and quality to be called.",
        "requirements": "Shared as a coded list of HGNC gene symbols or a BED file. For coded genes, the HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. If details beyond a coded list of genes are needed, a BED file SHALL be used to further describe the regions deemed callable.",
        "min": 0,
        "max": "*",
        "base": {
          "path": "Element.extension",
          "min": 0,
          "max": "*"
        },
        "type": [
          {
            "code": "Extension"
          }
        ],
        "constraint": [
          {
            "key": "ele-1",
            "severity": "error",
            "human": "All FHIR elements must have a @value or children",
            "expression": "hasValue() or (children().count() > id.count())",
            "xpath": "@value|f:*|h:div",
            "source": "http://hl7.org/fhir/StructureDefinition/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": "http://hl7.org/fhir/StructureDefinition/Extension"
          }
        ],
        "isModifier": false,
        "isSummary": false
      },
      {
        "id": "Extension.extension:called.id",
        "path": "Extension.extension.id",
        "representation": [
          "xmlAttr"
        ],
        "short": "Unique id for inter-element referencing",
        "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": [
          {
            "extension": [
              {
                "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
                "valueUrl": "string"
              }
            ],
            "code": "http://hl7.org/fhirpath/System.String"
          }
        ],
        "isModifier": false,
        "isSummary": false,
        "mapping": [
          {
            "identity": "rim",
            "map": "n/a"
          }
        ]
      },
      {
        "id": "Extension.extension:called.extension",
        "path": "Extension.extension.extension",
        "slicing": {
          "discriminator": [
            {
              "type": "value",
              "path": "url"
            }
          ],
          "description": "Extensions are always sliced by (at least) url",
          "rules": "open"
        },
        "short": "Extension",
        "definition": "An Extension",
        "min": 0,
        "max": "0",
        "base": {
          "path": "Element.extension",
          "min": 0,
          "max": "*"
        },
        "type": [
          {
            "code": "Extension"
          }
        ],
        "constraint": [
          {
            "key": "ele-1",
            "severity": "error",
            "human": "All FHIR elements must have a @value or children",
            "expression": "hasValue() or (children().count() > id.count())",
            "xpath": "@value|f:*|h:div",
            "source": "http://hl7.org/fhir/StructureDefinition/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": "http://hl7.org/fhir/StructureDefinition/Extension"
          }
        ],
        "isModifier": false,
        "isSummary": false
      },
      {
        "id": "Extension.extension:called.url",
        "path": "Extension.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.",
        "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.",
        "min": 1,
        "max": "1",
        "base": {
          "path": "Extension.url",
          "min": 1,
          "max": "1"
        },
        "type": [
          {
            "extension": [
              {
                "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
                "valueUrl": "uri"
              }
            ],
            "code": "http://hl7.org/fhirpath/System.String"
          }
        ],
        "fixedUri": "called",
        "isModifier": false,
        "isSummary": false,
        "mapping": [
          {
            "identity": "rim",
            "map": "N/A"
          }
        ]
      },
      {
        "id": "Extension.extension:called.value[x]",
        "path": "Extension.extension.value[x]",
        "short": "Gene codes or BED file",
        "definition": "Value of extension - must be one of a constrained set of the data types (see [Extensibility](http://hl7.org/fhir/R4/extensibility.html) for a list).",
        "min": 1,
        "max": "1",
        "base": {
          "path": "Extension.value[x]",
          "min": 0,
          "max": "1"
        },
        "type": [
          {
            "code": "CodeableConcept"
          },
          {
            "code": "Reference",
            "targetProfile": [
              "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-data-file"
            ]
          }
        ],
        "constraint": [
          {
            "key": "ele-1",
            "severity": "error",
            "human": "All FHIR elements must have a @value or children",
            "expression": "hasValue() or (children().count() > id.count())",
            "xpath": "@value|f:*|h:div",
            "source": "http://hl7.org/fhir/StructureDefinition/Element"
          }
        ],
        "isModifier": false,
        "isSummary": false,
        "binding": {
          "strength": "extensible",
          "valueSet": "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs"
        },
        "mapping": [
          {
            "identity": "rim",
            "map": "N/A"
          }
        ]
      },
      {
        "id": "Extension.extension:uncalled",
        "path": "Extension.extension",
        "sliceName": "uncalled",
        "short": "Genes or Regions Uncalled",
        "definition": "The genes or regions that were studied for the analysis but were deemed uncallable.",
        "requirements": "Shared as a coded list of HGNC gene symbols or a BED file. For coded genes, the HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. If details beyond a coded list of genes are needed, a BED file SHALL be used to further describe the regions deemed uncallable.",
        "min": 0,
        "max": "*",
        "base": {
          "path": "Element.extension",
          "min": 0,
          "max": "*"
        },
        "type": [
          {
            "code": "Extension"
          }
        ],
        "constraint": [
          {
            "key": "ele-1",
            "severity": "error",
            "human": "All FHIR elements must have a @value or children",
            "expression": "hasValue() or (children().count() > id.count())",
            "xpath": "@value|f:*|h:div",
            "source": "http://hl7.org/fhir/StructureDefinition/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": "http://hl7.org/fhir/StructureDefinition/Extension"
          }
        ],
        "isModifier": false,
        "isSummary": false
      },
      {
        "id": "Extension.extension:uncalled.id",
        "path": "Extension.extension.id",
        "representation": [
          "xmlAttr"
        ],
        "short": "Unique id for inter-element referencing",
        "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": [
          {
            "extension": [
              {
                "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
                "valueUrl": "string"
              }
            ],
            "code": "http://hl7.org/fhirpath/System.String"
          }
        ],
        "isModifier": false,
        "isSummary": false,
        "mapping": [
          {
            "identity": "rim",
            "map": "n/a"
          }
        ]
      },
      {
        "id": "Extension.extension:uncalled.extension",
        "path": "Extension.extension.extension",
        "slicing": {
          "discriminator": [
            {
              "type": "value",
              "path": "url"
            }
          ],
          "description": "Extensions are always sliced by (at least) url",
          "rules": "open"
        },
        "short": "Extension",
        "definition": "An Extension",
        "min": 0,
        "max": "0",
        "base": {
          "path": "Element.extension",
          "min": 0,
          "max": "*"
        },
        "type": [
          {
            "code": "Extension"
          }
        ],
        "constraint": [
          {
            "key": "ele-1",
            "severity": "error",
            "human": "All FHIR elements must have a @value or children",
            "expression": "hasValue() or (children().count() > id.count())",
            "xpath": "@value|f:*|h:div",
            "source": "http://hl7.org/fhir/StructureDefinition/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": "http://hl7.org/fhir/StructureDefinition/Extension"
          }
        ],
        "isModifier": false,
        "isSummary": false
      },
      {
        "id": "Extension.extension:uncalled.url",
        "path": "Extension.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.",
        "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.",
        "min": 1,
        "max": "1",
        "base": {
          "path": "Extension.url",
          "min": 1,
          "max": "1"
        },
        "type": [
          {
            "extension": [
              {
                "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
                "valueUrl": "uri"
              }
            ],
            "code": "http://hl7.org/fhirpath/System.String"
          }
        ],
        "fixedUri": "uncalled",
        "isModifier": false,
        "isSummary": false,
        "mapping": [
          {
            "identity": "rim",
            "map": "N/A"
          }
        ]
      },
      {
        "id": "Extension.extension:uncalled.value[x]",
        "path": "Extension.extension.value[x]",
        "short": "Gene codes or BED file",
        "definition": "Value of extension - must be one of a constrained set of the data types (see [Extensibility](http://hl7.org/fhir/R4/extensibility.html) for a list).",
        "min": 1,
        "max": "1",
        "base": {
          "path": "Extension.value[x]",
          "min": 0,
          "max": "1"
        },
        "type": [
          {
            "code": "CodeableConcept"
          },
          {
            "code": "Reference",
            "targetProfile": [
              "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-data-file"
            ]
          }
        ],
        "constraint": [
          {
            "key": "ele-1",
            "severity": "error",
            "human": "All FHIR elements must have a @value or children",
            "expression": "hasValue() or (children().count() > id.count())",
            "xpath": "@value|f:*|h:div",
            "source": "http://hl7.org/fhir/StructureDefinition/Element"
          }
        ],
        "isModifier": false,
        "isSummary": false,
        "binding": {
          "strength": "extensible",
          "valueSet": "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs"
        },
        "mapping": [
          {
            "identity": "rim",
            "map": "N/A"
          }
        ]
      },
      {
        "id": "Extension.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.",
        "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.",
        "min": 1,
        "max": "1",
        "base": {
          "path": "Extension.url",
          "min": 1,
          "max": "1"
        },
        "type": [
          {
            "extension": [
              {
                "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
                "valueUrl": "uri"
              }
            ],
            "code": "http://hl7.org/fhirpath/System.String"
          }
        ],
        "fixedUri": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions",
        "isModifier": false,
        "isSummary": false,
        "mapping": [
          {
            "identity": "rim",
            "map": "N/A"
          }
        ]
      },
      {
        "id": "Extension.value[x]",
        "path": "Extension.value[x]",
        "short": "Value of extension",
        "definition": "Value of extension - must be one of a constrained set of the data types (see [Extensibility](http://hl7.org/fhir/R4/extensibility.html) for a list).",
        "min": 0,
        "max": "0",
        "base": {
          "path": "Extension.value[x]",
          "min": 0,
          "max": "1"
        },
        "type": [
          {
            "code": "base64Binary"
          },
          {
            "code": "boolean"
          },
          {
            "code": "canonical"
          },
          {
            "code": "code"
          },
          {
            "code": "date"
          },
          {
            "code": "dateTime"
          },
          {
            "code": "decimal"
          },
          {
            "code": "id"
          },
          {
            "code": "instant"
          },
          {
            "code": "integer"
          },
          {
            "code": "markdown"
          },
          {
            "code": "oid"
          },
          {
            "code": "positiveInt"
          },
          {
            "code": "string"
          },
          {
            "code": "time"
          },
          {
            "code": "unsignedInt"
          },
          {
            "code": "uri"
          },
          {
            "code": "url"
          },
          {
            "code": "uuid"
          },
          {
            "code": "Address"
          },
          {
            "code": "Age"
          },
          {
            "code": "Annotation"
          },
          {
            "code": "Attachment"
          },
          {
            "code": "CodeableConcept"
          },
          {
            "code": "Coding"
          },
          {
            "code": "ContactPoint"
          },
          {
            "code": "Count"
          },
          {
            "code": "Distance"
          },
          {
            "code": "Duration"
          },
          {
            "code": "HumanName"
          },
          {
            "code": "Identifier"
          },
          {
            "code": "Money"
          },
          {
            "code": "Period"
          },
          {
            "code": "Quantity"
          },
          {
            "code": "Range"
          },
          {
            "code": "Ratio"
          },
          {
            "code": "Reference"
          },
          {
            "code": "SampledData"
          },
          {
            "code": "Signature"
          },
          {
            "code": "Timing"
          },
          {
            "code": "ContactDetail"
          },
          {
            "code": "Contributor"
          },
          {
            "code": "DataRequirement"
          },
          {
            "code": "Expression"
          },
          {
            "code": "ParameterDefinition"
          },
          {
            "code": "RelatedArtifact"
          },
          {
            "code": "TriggerDefinition"
          },
          {
            "code": "UsageContext"
          },
          {
            "code": "Dosage"
          },
          {
            "code": "Meta"
          }
        ],
        "constraint": [
          {
            "key": "ele-1",
            "severity": "error",
            "human": "All FHIR elements must have a @value or children",
            "expression": "hasValue() or (children().count() > id.count())",
            "xpath": "@value|f:*|h:div",
            "source": "http://hl7.org/fhir/StructureDefinition/Element"
          }
        ],
        "isModifier": false,
        "isSummary": false,
        "mapping": [
          {
            "identity": "rim",
            "map": "N/A"
          }
        ]
      }
    ]
  },
  "differential": {
    "element": [
      {
        "id": "Extension",
        "path": "Extension",
        "short": "Genomic Study Analysis Regions",
        "definition": "Defines the regions studied, regions called, and regions deemed uncallable (generally due to low coverage)"
      },
      {
        "id": "Extension.extension:description",
        "path": "Extension.extension",
        "sliceName": "description",
        "short": "Regions Studied Description",
        "definition": "Freetext description of the regions studied for the sequencing test",
        "min": 0,
        "max": "1"
      },
      {
        "id": "Extension.extension:description.extension",
        "path": "Extension.extension.extension",
        "max": "0"
      },
      {
        "id": "Extension.extension:description.url",
        "path": "Extension.extension.url",
        "fixedUri": "description"
      },
      {
        "id": "Extension.extension:description.value[x]",
        "path": "Extension.extension.value[x]",
        "type": [
          {
            "code": "string"
          }
        ]
      },
      {
        "id": "Extension.extension:studied",
        "path": "Extension.extension",
        "sliceName": "studied",
        "short": "Genes or Regions Studied (GenomicStudy.analysis.regionsStudied)",
        "definition": "The genes or regions that were studied in the analysis.",
        "requirements": "Shared as a coded list of HGNC gene symbols or a BED file. For coded genes, the HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. If details beyond a coded list of genes are needed, a BED file SHALL be used to further describe the regions studied in the analysis.",
        "min": 0,
        "max": "*"
      },
      {
        "id": "Extension.extension:studied.extension",
        "path": "Extension.extension.extension",
        "max": "0"
      },
      {
        "id": "Extension.extension:studied.url",
        "path": "Extension.extension.url",
        "fixedUri": "studied"
      },
      {
        "id": "Extension.extension:studied.value[x]",
        "path": "Extension.extension.value[x]",
        "short": "Gene codes or BED file",
        "min": 1,
        "type": [
          {
            "code": "CodeableConcept"
          },
          {
            "code": "Reference",
            "targetProfile": [
              "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-data-file"
            ]
          }
        ],
        "binding": {
          "strength": "extensible",
          "valueSet": "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs"
        }
      },
      {
        "id": "Extension.extension:called",
        "path": "Extension.extension",
        "sliceName": "called",
        "short": "Genes or Regions Called (GenomicStudy.analysis.regionsCalled)",
        "definition": "The genes or regions that were studied for the analysis with sufficient coverage and quality to be called.",
        "requirements": "Shared as a coded list of HGNC gene symbols or a BED file. For coded genes, the HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. If details beyond a coded list of genes are needed, a BED file SHALL be used to further describe the regions deemed callable.",
        "min": 0,
        "max": "*"
      },
      {
        "id": "Extension.extension:called.extension",
        "path": "Extension.extension.extension",
        "max": "0"
      },
      {
        "id": "Extension.extension:called.url",
        "path": "Extension.extension.url",
        "fixedUri": "called"
      },
      {
        "id": "Extension.extension:called.value[x]",
        "path": "Extension.extension.value[x]",
        "short": "Gene codes or BED file",
        "min": 1,
        "type": [
          {
            "code": "CodeableConcept"
          },
          {
            "code": "Reference",
            "targetProfile": [
              "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-data-file"
            ]
          }
        ],
        "binding": {
          "strength": "extensible",
          "valueSet": "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs"
        }
      },
      {
        "id": "Extension.extension:uncalled",
        "path": "Extension.extension",
        "sliceName": "uncalled",
        "short": "Genes or Regions Uncalled",
        "definition": "The genes or regions that were studied for the analysis but were deemed uncallable.",
        "requirements": "Shared as a coded list of HGNC gene symbols or a BED file. For coded genes, the HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. If details beyond a coded list of genes are needed, a BED file SHALL be used to further describe the regions deemed uncallable.",
        "min": 0,
        "max": "*"
      },
      {
        "id": "Extension.extension:uncalled.extension",
        "path": "Extension.extension.extension",
        "max": "0"
      },
      {
        "id": "Extension.extension:uncalled.url",
        "path": "Extension.extension.url",
        "fixedUri": "uncalled"
      },
      {
        "id": "Extension.extension:uncalled.value[x]",
        "path": "Extension.extension.value[x]",
        "short": "Gene codes or BED file",
        "min": 1,
        "type": [
          {
            "code": "CodeableConcept"
          },
          {
            "code": "Reference",
            "targetProfile": [
              "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-data-file"
            ]
          }
        ],
        "binding": {
          "strength": "extensible",
          "valueSet": "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs"
        }
      },
      {
        "id": "Extension.url",
        "path": "Extension.url",
        "fixedUri": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions"
      },
      {
        "id": "Extension.value[x]",
        "path": "Extension.value[x]",
        "max": "0"
      }
    ]
  }
}