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

Packagehl7.fhir.uv.genomics-reporting
Resource TypeOperationDefinition
Idfind-subject-specific-haplotypes
FHIR VersionR4
Sourcehttp://hl7.org/fhir/uv/genomics-reporting/https://build.fhir.org/ig/HL7/genomics-reporting/OperationDefinition-find-subject-specific-haplotypes.html
URLhttp://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-subject-specific-haplotypes
Version4.0.0-ballot
Statusactive
Date2025-06-24T17:31:37+00:00
NameFindSubjectSpecificHaplotypes
TitleFind Subject Specific Haplotypes
Realmuv
Authorityhl7
DescriptionSee if specified haplotypes/genotypes are present.
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-specific-haplotypes

Parameters

UseNameScopeCardinalityTypeBindingDocumentation
INsubject1..1string
(reference)

The subject of interest.

INhaplotypes1..*string
(token)

List of haplotypes and/or genotypes being sought. Must be in token or codesystem|code format.

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 haplotypes irrespective of genomic source class.

OUThaplotypes1..*

(one for each haplotype in haplotypeList)

OUThaplotypes.haplotypeItem1..1string

haplotype/genotype from haplotypeList

OUThaplotypes.presence1..1boolean
OUThaplotypes.haplotype0..*Observation

Haplotypes must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype].

OUThaplotypes.genotype0..*Observation

Genotypes must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype].


Source

{
  "resourceType": "OperationDefinition",
  "id": "find-subject-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-subject-specific-haplotypes",
  "version": "4.0.0-ballot",
  "name": "FindSubjectSpecificHaplotypes",
  "title": "Find Subject 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": "See if specified haplotypes/genotypes are present.",
  "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": "subject",
      "use": "in",
      "min": 1,
      "max": "1",
      "documentation": "The subject of interest.",
      "type": "string",
      "searchType": "reference"
    },
    {
      "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": "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 haplotypes irrespective of genomic source class.",
      "type": "string",
      "searchType": "token"
    },
    {
      "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": "presence",
          "use": "out",
          "min": 1,
          "max": "1",
          "type": "boolean"
        },
        {
          "extension": [
            {
              "url": "http://hl7.org/fhir/StructureDefinition/operationdefinition-profile",
              "valueUri": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype"
            }
          ],
          "name": "haplotype",
          "use": "out",
          "min": 0,
          "max": "*",
          "documentation": "Haplotypes must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype].",
          "type": "Observation"
        },
        {
          "extension": [
            {
              "url": "http://hl7.org/fhir/StructureDefinition/operationdefinition-profile",
              "valueUri": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"
            }
          ],
          "name": "genotype",
          "use": "out",
          "min": 0,
          "max": "*",
          "documentation": "Genotypes must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype].",
          "type": "Observation"
        }
      ]
    }
  ]
}