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Packagede.medizininformatikinitiative.kerndatensatz.seltene
Resource TypeValueSet
IdValueSet-mii-vs-seltene-hpo-inheritance-pattern.json
FHIR VersionR4
Sourcehttps://simplifier.net/resolve?scope=de.medizininformatikinitiative.kerndatensatz.seltene@2026.0.0&canonical=https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-hpo-inheritance-pattern
URLhttps://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-hpo-inheritance-pattern
Version2026.0.0
Statusactive
NameHPOInheritancePatternValueSet
TitleMII VS SE HPO Inheritance Pattern
Realmde
DescriptionValue set containing HPO terms for modes of inheritance

Resources that use this resource

StructureDefinition
mii-ex-seltene-inheritance-patternMII EX SE Inheritance Pattern

Resources that this resource uses

CodeSystem
human-phenotype-ontology.orgHuman Phenotype Ontology

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"
          }
        ]
      }
    ]
  }
}