PackagesCanonicalsLogsProblems
    Packages
    hl7.fhir.uv.genomics-reporting@3.0.0-ballot
    http://hl7.org/fhir/uv/genomics-reporting/ValueSet/condition-inheritance-mode-vs
{
  "description": "Value Set for specific transmission patterns of a condition in a pedigree",
  "compose": {
    "include": [ {
      "system": "http://human-phenotype-ontology.org",
      "concept": [ {
        "code": "HP:0000006",
        "display": "Autosomal dominant inheritance"
      }, {
        "code": "HP:0000007",
        "display": "Autosomal recessive inheritance"
      }, {
        "code": "HP:0001417",
        "display": "X-linked inheritance"
      }, {
        "code": "HP:0001419",
        "display": "X-linked inheritance (recessive)"
      }, {
        "code": "HP:0001423",
        "display": "X-linked inheritance (dominant)"
      }, {
        "code": "HP:0001426",
        "display": "Multifactorial inheritance"
      }, {
        "code": "HP:0001427",
        "display": "Mitochondrial inheritance"
      }, {
        "code": "HP:0001428",
        "display": "Somatic mutation"
      }, {
        "code": "HP:0001450",
        "display": "Y-linked inheritance"
      }, {
        "code": "HP:0001470",
        "display": "Autosomal dominant inheritance (sex-limited)"
      }, {
        "code": "HP:0003743",
        "display": "Genetic anticipation"
      }, {
        "code": "HP:0003745",
        "display": "Sporadic"
      }, {
        "code": "HP:0010983",
        "display": "Oligogenic"
      }, {
        "code": "HP:0012274",
        "display": "Autosomal dominant inheritance (with paternal imprinting)"
      }, {
        "code": "HP:0012275",
        "display": "Autosomal dominant inheritance (with maternal imprinting)"
      }, {
        "code": "HP:0025352",
        "display": "Autosomal dominant inheritance (primarily or exclusively de novo)"
      }, {
        "code": "HP:0031362",
        "display": "Autosomal recessive inheritance (sex-limited)"
      }, {
        "code": "HP:0032113",
        "display": "Semidominant inheritance"
      } ]
    } ]
  },
  "_filename": "ValueSet-condition-inheritance-mode-vs.json",
  "package_name": "hl7.fhir.uv.genomics-reporting",
  "date": "2023-12-18T22:45:59+00:00",
  "publisher": "HL7 International / Clinical Genomics",
  "jurisdiction": [ {
    "coding": [ {
      "code": "001",
      "system": "http://unstats.un.org/unsd/methods/m49/m49.htm",
      "display": "World"
    } ]
  } ],
  "name": "ConditionInheritanceModeVS",
  "type": null,
  "experimental": "false",
  "resourceType": "ValueSet",
  "title": "Condition Inheritance Patterns",
  "package_version": "3.0.0-ballot",
  "extension": [ {
    "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
    "valueCode": "cg"
  } ],
  "status": "active",
  "id": "75aeb1b8-d3ee-40d2-80ed-1c9a3362abee",
  "kind": null,
  "url": "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/condition-inheritance-mode-vs",
  "version": "3.0.0-ballot",
  "contact": [ {
    "name": "HL7 International / Clinical Genomics",
    "telecom": [ {
      "value": "http://www.hl7.org/Special/committees/clingenomics",
      "system": "url"
    }, {
      "value": "cg@lists.HL7.org",
      "system": "email"
    } ]
  } ]
}