PackagesCanonicalsLogsProblems
    Packages
    hl7.fhir.uv.genomics@reporting-2.0.0
    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://www.ebi.ac.uk/ols/ontologies/geno",
      "concept": [ {
        "code": "0000143",
        "display": "Codominant inheritance"
      }, {
        "code": "0000889",
        "display": "Unknown inheritance"
      }, {
        "code": "0000892",
        "display": "Mitochondrial inheritance (primarily or exclusively heteroplasmic)"
      }, {
        "code": "0000893",
        "display": "Mitochondrial inheritance (primarily or exclusively homoplasmic)"
      } ]
    }, {
      "system": "http://hpo.jax.org/app/",
      "concept": [ {
        "code": "0000006",
        "display": "Autosomal dominant inheritance"
      }, {
        "code": "0000007",
        "display": "Autosomal recessive inheritance"
      }, {
        "code": "0001417",
        "display": "X-linked inheritance"
      }, {
        "code": "0001419",
        "display": "X-linked inheritance (recessive)"
      }, {
        "code": "0001423",
        "display": "X-linked inheritance (dominant)"
      }, {
        "code": "0001426",
        "display": "Multifactorial inheritance"
      }, {
        "code": "0001427",
        "display": "Mitochondrial inheritance"
      }, {
        "code": "0001428",
        "display": "Somatic mutation"
      }, {
        "code": "0001450",
        "display": "Y-linked inheritance"
      }, {
        "code": "0001470",
        "display": "Autosomal dominant inheritance (sex-limited)"
      }, {
        "code": "0003743",
        "display": "Genetic anticipation"
      }, {
        "code": "0003745",
        "display": "Sporadic"
      }, {
        "code": "0010983",
        "display": "Oligogenic"
      }, {
        "code": "0012274",
        "display": "Autosomal dominant inheritance (with paternal imprinting)"
      }, {
        "code": "0012275",
        "display": "Autosomal dominant inheritance (with maternal imprinting)"
      }, {
        "code": "0025352",
        "display": "Autosomal dominant inheritance (primarily or exclusively de novo)"
      }, {
        "code": "0031362",
        "display": "Autosomal recessive inheritance (sex-limited)"
      } ]
    }, {
      "system": "http://purl.obolibrary.org/obo/sepio-clingen",
      "concept": [ {
        "code": "97020",
        "display": "Semidominant inheritance"
      }, {
        "code": "97021",
        "display": "X-linked inheritance (primarily recessive with milder female expression)"
      }, {
        "code": "97022",
        "display": "Autosomal dominant inheritance (with genetic anticipation)"
      }, {
        "code": "97023",
        "display": "Autosomal recessive inheritance (with genetic anticipation)"
      } ]
    } ]
  },
  "_filename": "ValueSet-condition-inheritance-mode-vs.json",
  "package_name": "hl7.fhir.uv.genomics",
  "date": "2022-05-09T16:53:07+00:00",
  "publisher": "HL7 Clinical Genomics Working Group",
  "jurisdiction": [ {
    "coding": [ {
      "code": "001",
      "system": "http://unstats.un.org/unsd/methods/m49/m49.htm",
      "display": "World"
    } ]
  } ],
  "name": "ConditionInheritanceModeVS",
  "type": null,
  "experimental": null,
  "resourceType": "ValueSet",
  "title": "Condition Inheritance Patterns",
  "package_version": "reporting-2.0.0",
  "status": "active",
  "id": "ae739ec9-a827-4e9a-82a2-c14de9bf19cd",
  "kind": null,
  "url": "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/condition-inheritance-mode-vs",
  "version": "2.0.0",
  "contact": [ {
    "name": "HL7 Clinical Genomics Working Group",
    "telecom": [ {
      "value": "http://www.hl7.org/Special/committees/clingenomics",
      "system": "url"
    }, {
      "value": "cg@lists.HL7.org",
      "system": "email"
    } ]
  } ]
}