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FHIR IG Statistics: OperationDefinition/find-population-dx-implications

Packagehl7.fhir.uv.genomics-reporting
Resource TypeOperationDefinition
Idfind-population-dx-implications
FHIR VersionR4
Sourcehttp://hl7.org/fhir/uv/genomics-reporting/https://build.fhir.org/ig/HL7/genomics-reporting/OperationDefinition-find-population-dx-implications.html
URLhttp://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-population-dx-implications
Version4.0.0-ballot
Statusactive
Date2025-06-24T17:31:37+00:00
NameFindPopulationDxImplications
TitleFind Population Diagnostic Implications
Realmuv
Authorityhl7
DescriptionRetrieve count or list of patients having diagnostic implications.
Typetrue
Kindoperation

Resources that use this resource

No resources found


Resources that this resource uses

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Narrative

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

Generated Narrative: OperationDefinition find-population-dx-implications

Parameters

UseNameScopeCardinalityTypeBindingDocumentation
INvariants0..*string
(string)

List of variants from which implications are derived. Must be in HGVS or SPDI format.

INhaplotypes0..*string
(token)

List of haplotypes from which implications are derived. Must be in token or codesystem|code format.

INconditions0..*string
(token)

List of conditions for which implications are sought. Must be in token or codesystem|code format.

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.

INincludePatientList0..1boolean

Include list of matching patients if set to true. Default=false.

OUTimplications1..1
OUTimplications.numerator1..1Quantity

Count of patients having this variant

OUTimplications.denominator0..1Quantity

Count of patients in the cohort searched

OUTimplications.subject0..*string

Patient ID. Include if includePatientList=true


Source

{
  "resourceType": "OperationDefinition",
  "id": "find-population-dx-implications",
  "text": {
    "status": "generated",
    "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/OperationDefinition/find-population-dx-implications",
  "version": "4.0.0-ballot",
  "name": "FindPopulationDxImplications",
  "title": "Find Population Diagnostic Implications",
  "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": "Retrieve count or list of patients having diagnostic implications.",
  "jurisdiction": [
    {
      "coding": [
        {
          "system": "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code": "001",
          "display": "World"
        }
      ]
    }
  ],
  "code": "match",
  "system": false,
  "type": true,
  "instance": false,
  "parameter": [
    {
      "name": "variants",
      "use": "in",
      "min": 0,
      "max": "*",
      "documentation": "List of variants from which implications are derived. Must be in HGVS or SPDI format.",
      "type": "string",
      "searchType": "string"
    },
    {
      "name": "haplotypes",
      "use": "in",
      "min": 0,
      "max": "*",
      "documentation": "List of haplotypes from which implications are derived. Must be in token or codesystem|code format.",
      "type": "string",
      "searchType": "token"
    },
    {
      "name": "conditions",
      "use": "in",
      "min": 0,
      "max": "*",
      "documentation": "List of conditions for which implications are sought. Must be in token or codesystem|code format.",
      "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": "includePatientList",
      "use": "in",
      "min": 0,
      "max": "1",
      "documentation": "Include list of matching patients if set to true. Default=false.",
      "type": "boolean"
    },
    {
      "name": "implications",
      "use": "out",
      "min": 1,
      "max": "1",
      "part": [
        {
          "name": "numerator",
          "use": "out",
          "min": 1,
          "max": "1",
          "documentation": "Count of patients having this variant",
          "type": "Quantity"
        },
        {
          "name": "denominator",
          "use": "out",
          "min": 0,
          "max": "1",
          "documentation": "Count of patients in the cohort searched",
          "type": "Quantity"
        },
        {
          "name": "subject",
          "use": "out",
          "min": 0,
          "max": "*",
          "documentation": "Patient ID. Include if includePatientList=true",
          "type": "string"
        }
      ]
    }
  ]
}