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FHIR IG Statistics: OperationDefinition/find-population-specific-haplotypes

Packagehl7.fhir.uv.genomics-reporting
Resource TypeOperationDefinition
Idfind-population-specific-haplotypes
FHIR VersionR4
Sourcehttp://hl7.org/fhir/uv/genomics-reporting/https://build.fhir.org/ig/HL7/genomics-reporting/OperationDefinition-find-population-specific-haplotypes.html
URLhttp://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-population-specific-haplotypes
Version4.0.0-ballot
Statusactive
Date2025-06-24T17:31:37+00:00
NameFindPopulationSpecificHaplotypes
TitleFind Population Specific Haplotypes
Realmuv
Authorityhl7
DescriptionRetrieve count or list of patients having specified genotypes/haplotypes.
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-population-specific-haplotypes

Parameters

UseNameScopeCardinalityTypeBindingDocumentation
INhaplotypes1..*string
(token)

List of haplotypes and/or genotypes being 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.

OUThaplotypes1..*

(one for each haplotype in haplotypeList)

OUThaplotypes.haplotypeItem1..1string

haplotype/genotype from haplotypeList

OUThaplotypes.numerator1..1Quantity

Count of patients having this variant

OUThaplotypes.denominator0..1Quantity

Count of patients in the cohort searched

OUThaplotypes.subject0..*string

Patient ID. Include if includePatientList=true


Source

{
  "resourceType": "OperationDefinition",
  "id": "find-population-specific-haplotypes",
  "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-specific-haplotypes",
  "version": "4.0.0-ballot",
  "name": "FindPopulationSpecificHaplotypes",
  "title": "Find Population Specific Haplotypes",
  "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 specified genotypes/haplotypes.",
  "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": "haplotypes",
      "use": "in",
      "min": 1,
      "max": "*",
      "documentation": "List of haplotypes and/or genotypes being 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": "haplotypes",
      "use": "out",
      "min": 1,
      "max": "*",
      "documentation": "(one for each haplotype in haplotypeList)",
      "part": [
        {
          "name": "haplotypeItem",
          "use": "out",
          "min": 1,
          "max": "1",
          "documentation": "haplotype/genotype from haplotypeList",
          "type": "string"
        },
        {
          "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"
        }
      ]
    }
  ]
}