{
"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"
} ]
} ]
}