PackagesCanonicalsLogsProblems
    Packages
    de.medizininformatikinitiative.kerndatensatz.seltene@2026.0.0-ballot
    https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-hpo-inheritance-pattern
{
  "description": "Value set containing HPO terms for modes of inheritance",
  "compose": {
    "include": [ {
      "filter": [ {
        "op": "is-a",
        "value": "HP:0000005",
        "property": "concept"
      } ],
      "system": "http://human-phenotype-ontology.org"
    }, {
      "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 recessive inheritance"
      }, {
        "code": "HP:0001423",
        "display": "X-linked dominant inheritance"
      }, {
        "code": "HP:0001427",
        "display": "Mitochondrial inheritance"
      }, {
        "code": "HP:0001428",
        "display": "Somatic mutation"
      }, {
        "code": "HP:0003745",
        "display": "Sporadic"
      }, {
        "code": "HP:0010983",
        "display": "Oligogenic"
      }, {
        "code": "HP:0010982",
        "display": "Polygenic"
      }, {
        "code": "HP:0001426",
        "display": "Multifactorial inheritance"
      }, {
        "code": "HP:0012275",
        "display": "Autosomal dominant inheritance with maternal imprinting"
      }, {
        "code": "HP:0012274",
        "display": "Autosomal dominant inheritance with paternal imprinting"
      } ]
    } ]
  },
  "_filename": "ValueSet-mii-vs-seltene-hpo-inheritance-pattern.json",
  "package_name": "de.medizininformatikinitiative.kerndatensatz.seltene",
  "date": null,
  "publisher": "Medizininformatik Initiative",
  "name": "HPOInheritancePatternValueSet",
  "type": null,
  "experimental": null,
  "resourceType": "ValueSet",
  "title": "MII VS SE HPO Inheritance Pattern",
  "package_version": "2026.0.0-ballot",
  "status": "draft",
  "id": "036b1672-8008-4e9e-8932-0eccf79efee1",
  "kind": null,
  "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-hpo-inheritance-pattern",
  "version": "2026.0.0-ballot",
  "contact": [ {
    "telecom": [ {
      "value": "https://www.medizininformatik-initiative.de",
      "system": "url"
    } ]
  } ]
}