Resource ValueSet/FHIR Server from package hl7.fhir.uv.phenomics-exchange#current (47 ms)

Resources that use this resource

StructureDefinition
acmg-pathogenicity-classification	ACMG Pathogenicity Classification

Resources that this resource uses

No resources found

Narrative

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

Source

{
  "resourceType" : "ValueSet",
  "id" : "acmgPathogenicityClassification-vs",
  "meta" : {
    "profile" : [
      "http://hl7.org/fhir/StructureDefinition/shareablevalueset"
    ]
  },
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><ul><li>Include these codes as defined in <code>http://phenopacket-schema.readthedocs.io/en/v2/variant-interpretation.html#acmgpathogenicityclassification</code><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td>0</td><td>NOT_PROVIDED</td></tr><tr><td>1</td><td>BENIGN</td></tr><tr><td>2</td><td>LIKELY_BENIGN</td></tr><tr><td>3</td><td>UNCERTAIN_SIGNIFICANCE</td></tr><tr><td>4</td><td>LIKELY_PATHOGENIC</td></tr><tr><td>5</td><td>PATHOGENIC</td></tr></table></li></ul></div>"
  },
  "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"
          }
        ]
      }
    ]
  }
}

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