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FHIR IG Statistics: ValueSet/acmgPathogenicityClassification-vs

Packagehl7.fhir.uv.phenomics-exchange
TypeValueSet
IdacmgPathogenicityClassification-vs
FHIR VersionR4
Sourcehttp://hl7.org/fhir/uv/phenomics-exchange/https://build.fhir.org/ig/HL7/phenomics-exchange-ig/ValueSet-acmgPathogenicityClassification-vs.html
URLhttp://hl7.org/fhir/uv/phenomics-exchange/ValueSet/acmgPathogenicityClassification-vs
Version0.1.0
Statusdraft
Date2024-06-18T22:11:07+00:00
NameAcmgPathogenicityClassificationVS
TitleACMG Pathogenicity Classification Value Set
Realmuv
Authorityhl7
DescriptionDescribes the ACMG five-tier pathogenicity classification system (Richards et al., 2015, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4544753/).
CopyrightThis value set includes content from Phenopackets, which is copyright © 2016+ Global Alliance for Genomics and Health (GA4GH)

Resources that use this resource

StructureDefinition
acmg-pathogenicity-classificationACMG Pathogenicity Classification

Resources that this resource uses

No resources found


Narrative

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

  • Include these codes as defined in http://phenopacket-schema.readthedocs.io/en/v2/variant-interpretation.html#acmgpathogenicityclassification
    CodeDisplay
    0NOT_PROVIDED
    1BENIGN
    2LIKELY_BENIGN
    3UNCERTAIN_SIGNIFICANCE
    4LIKELY_PATHOGENIC
    5PATHOGENIC

Source

{
  "resourceType": "ValueSet",
  "id": "acmgPathogenicityClassification-vs",
  "meta": {
    "profile": [
      "http://hl7.org/fhir/StructureDefinition/shareablevalueset"
    ]
  },
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "extension": [
    {
      "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
      "valueCode": "cic"
    }
  ],
  "url": "http://hl7.org/fhir/uv/phenomics-exchange/ValueSet/acmgPathogenicityClassification-vs",
  "version": "0.1.0",
  "name": "AcmgPathogenicityClassificationVS",
  "title": "ACMG Pathogenicity Classification Value Set",
  "status": "draft",
  "experimental": false,
  "date": "2024-06-18T22:11:07+00:00",
  "publisher": "HL7 International / Clinical Interoperability Council",
  "contact": [
    {
      "name": "HL7 International / Clinical Interoperability Council",
      "telecom": [
        {
          "system": "url",
          "value": "http://www.hl7.org/Special/committees/cic"
        },
        {
          "system": "email",
          "value": "cic@lists.HL7.org"
        }
      ]
    }
  ],
  "description": "Describes the ACMG five-tier pathogenicity classification system (Richards et al., 2015, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4544753/).",
  "jurisdiction": [
    {
      "coding": [
        {
          "system": "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code": "001",
          "display": "World"
        }
      ]
    }
  ],
  "copyright": "This value set includes content from Phenopackets, which is copyright © 2016+ Global Alliance for Genomics and Health (GA4GH)",
  "compose": {
    "include": [
      {
        "system": "http://phenopacket-schema.readthedocs.io/en/v2/variant-interpretation.html#acmgpathogenicityclassification",
        "concept": [
          {
            "code": "0",
            "display": "NOT_PROVIDED"
          },
          {
            "code": "1",
            "display": "BENIGN"
          },
          {
            "code": "2",
            "display": "LIKELY_BENIGN"
          },
          {
            "code": "3",
            "display": "UNCERTAIN_SIGNIFICANCE"
          },
          {
            "code": "4",
            "display": "LIKELY_PATHOGENIC"
          },
          {
            "code": "5",
            "display": "PATHOGENIC"
          }
        ]
      }
    ]
  }
}