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FHIR IG Statistics: OperationDefinition/find-subject-structural-subsuming-variants

Packagehl7.fhir.uv.genomics-reporting
Resource TypeOperationDefinition
Idfind-subject-structural-subsuming-variants
FHIR VersionR4
Sourcehttp://hl7.org/fhir/uv/genomics-reporting/https://build.fhir.org/ig/HL7/genomics-reporting/OperationDefinition-find-subject-structural-subsuming-variants.html
URLhttp://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-subject-structural-subsuming-variants
Version4.0.0-ballot
Statusactive
Date2025-06-24T17:31:37+00:00
NameFindSubjectStructuralSubsumingVariants
TitleFind Subject Structural Subsuming Variants
Realmuv
Authorityhl7
DescriptionDetermine if structural variants are present that fully subsume a range.
Typetrue
Kindoperation

Resources that use this resource

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Resources that this resource uses

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Narrative

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

Generated Narrative: OperationDefinition find-subject-structural-subsuming-variants

Parameters

UseNameScopeCardinalityTypeBindingDocumentation
INsubject1..1string
(reference)

The subject of interest.

INranges1..*string
(special)

List of regions to be searched for variants. Must be in zero-based RefSeq:Integer-range format (e.g. 'NC_000007.14:55174721-55174820').

INtestIdentifiers0..*string
(token)

Supply a list of test identifiers. Only results originating from one of these tests will be returned.

INtestDateRange0..1Period

Supply a date range. Only results generated during this range will be returned.

INspecimenIdentifiers0..*string
(token)

Supply a list of specimen identifiers. Only results derived from one of these specimens will be returned.

INgenomicSourceClass0..1string
(token)

Enables an App to limit results to those that are 'germline' or 'somatic'. Default is to include variants irrespective of genomic source class.

INincludeVariants0..1boolean

Include variants in response if set to true. Default=false.

OUTvariants1..*

(one for each range in rangeList)

OUTvariants.rangeItem1..1string

range from rangeList

OUTvariants.presence1..1boolean

True if as least one variant is identified that subsumes the range

OUTvariants.variant0..*Observation

If includeVariants=true then include variants that subsume the range. Variants must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant] and minimally include valueCodeableConcept; component:coding-change-type; component:genomic-ref-seq; component:coordinate-system (valued with '0-based interval counting'); components outer-start-end and/or inner-start-end.


Source

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  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "extension": [
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      "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": [
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            "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/OperationDefinition/find-subject-structural-subsuming-variants",
  "version": "4.0.0-ballot",
  "name": "FindSubjectStructuralSubsumingVariants",
  "title": "Find Subject Structural Subsuming Variants",
  "status": "active",
  "kind": "operation",
  "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": "Determine if structural variants are present that fully subsume a range.",
  "jurisdiction": [
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      "coding": [
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          "system": "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code": "001",
          "display": "World"
        }
      ]
    }
  ],
  "code": "match",
  "system": false,
  "type": true,
  "instance": false,
  "parameter": [
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      "name": "subject",
      "use": "in",
      "min": 1,
      "max": "1",
      "documentation": "The subject of interest.",
      "type": "string",
      "searchType": "reference"
    },
    {
      "name": "ranges",
      "use": "in",
      "min": 1,
      "max": "*",
      "documentation": "List of regions to be searched for variants. Must be in zero-based RefSeq:Integer-range format (e.g. 'NC_000007.14:55174721-55174820').",
      "type": "string",
      "searchType": "special"
    },
    {
      "name": "testIdentifiers",
      "use": "in",
      "min": 0,
      "max": "*",
      "documentation": "Supply a list of test identifiers. Only results originating from one of these tests will be returned.",
      "type": "string",
      "searchType": "token"
    },
    {
      "name": "testDateRange",
      "use": "in",
      "min": 0,
      "max": "1",
      "documentation": "Supply a date range. Only results generated during this range will be returned.",
      "type": "Period"
    },
    {
      "name": "specimenIdentifiers",
      "use": "in",
      "min": 0,
      "max": "*",
      "documentation": "Supply a list of specimen identifiers. Only results derived from one of these specimens will be returned.",
      "type": "string",
      "searchType": "token"
    },
    {
      "name": "genomicSourceClass",
      "use": "in",
      "min": 0,
      "max": "1",
      "documentation": "Enables an App to limit results to those that are 'germline' or 'somatic'. Default is to include variants irrespective of genomic source class.",
      "type": "string",
      "searchType": "token"
    },
    {
      "name": "includeVariants",
      "use": "in",
      "min": 0,
      "max": "1",
      "documentation": "Include variants in response if set to true. Default=false.",
      "type": "boolean"
    },
    {
      "name": "variants",
      "use": "out",
      "min": 1,
      "max": "*",
      "documentation": "(one for each range in rangeList)",
      "part": [
        {
          "name": "rangeItem",
          "use": "out",
          "min": 1,
          "max": "1",
          "documentation": "range from rangeList",
          "type": "string"
        },
        {
          "name": "presence",
          "use": "out",
          "min": 1,
          "max": "1",
          "documentation": "True if as least one variant is identified that subsumes the range",
          "type": "boolean"
        },
        {
          "extension": [
            {
              "url": "http://hl7.org/fhir/StructureDefinition/operationdefinition-profile",
              "valueUri": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
            }
          ],
          "name": "variant",
          "use": "out",
          "min": 0,
          "max": "*",
          "documentation": "If includeVariants=true then include variants that subsume the range. Variants must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant] and minimally include valueCodeableConcept; component:coding-change-type; component:genomic-ref-seq; component:coordinate-system (valued with '0-based interval counting'); components outer-start-end and/or inner-start-end.",
          "type": "Observation"
        }
      ]
    }
  ]
}