{ "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" } ] } ] }