FHIR IG analytics
Resources that use this resource
Resources that this resource uses
Narrative
No narrative content found in resource
Source1
{
"resourceType": "ValueSet",
"id": "mii-vs-seltene-hpo-inheritance-pattern",
"url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-hpo-inheritance-pattern",
"version": "2026.0.0",
"name": "HPOInheritancePatternValueSet",
"title": "MII VS SE HPO Inheritance Pattern",
"status": "active",
"publisher": "Medizininformatik Initiative",
"contact": [
{
"telecom": [
{
"system": "url",
"value": "https://www.medizininformatik-initiative.de"
}
]
}
],
"description": "Value set containing HPO terms for modes of inheritance",
"compose": {
"include": [
{
"system": "http://human-phenotype-ontology.org",
"filter": [
{
"property": "concept",
"op": "is-a",
"value": "HP:0000005"
}
]
},
{
"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"
}
]
}
]
}
}