http://hl7.org/fhir/ValueSet/clinvar|4.0.1

Clin var

ClinVar

http://hl7.org/fhir/ValueSet/clinvar

NCBI central repository for curating pathogenicity of potentially clinically relevant variants

IDclinvar
StatusDRAFT
URLhttp://hl7.org/fhir/ValueSet/clinvar
Version4.0.1
DateThu Oct 31 22:29:23 GMT 2019
PublisherHL7 International - FHIR-Infrastructure

Includes

Systemhttp://www.ncbi.nlm.nih.gov/clinvar
{
  "resourceType": "ValueSet",
  "id": "clinvar",
  "meta": {
  "versionId": "1",
  "lastUpdated": "2023-03-10T04:56:25.596+00:00",
  "profile": [ "http://hl7.org/fhir/StructureDefinition/shareablevalueset" ]
  },
  "extension": [ {
  "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
  "valueCode": "oo"
  } ],
  "url": "http://hl7.org/fhir/ValueSet/clinvar",
  "identifier": [ {
  "system": "urn:ietf:rfc:3986",
  "value": "urn:oid:2.16.840.1.113883.4.642.3.1041"
  } ],
  "version": "4.0.1",
  "name": "ClinVar",
  "title": "Clin var",
  "status": "draft",
  "experimental": false,
  "date": "2019-11-01T09:29:23+11:00",
  "publisher": "HL7 International - FHIR-Infrastructure",
  "contact": [ {
  "telecom": [ {
    "system": "url",
    "value": "http://hl7.org/fhir"
  } ]
  } ],
  "description": "NCBI central repository for curating pathogenicity of potentially clinically relevant variants",
  "compose": {
  "include": [ {
    "system": "http://www.ncbi.nlm.nih.gov/clinvar"
  } ]
  }
}