{
  "description": "Value set for types of genetic basis of rare diseases",
  "compose": {
    "include": [ {
      "system": "http://snomed.info/sct",
      "concept": [ {
        "code": "409709004",
        "display": "Chromosomal disorder"
      }, {
        "code": "264530000",
        "display": "Single gene disorder"
      }, {
        "code": "16402000",
        "display": "Mitochondrial disorder"
      }, {
        "code": "268298002",
        "display": "Polygenic disorder"
      }, {
        "code": "429962007",
        "display": "Disorder due to copy number variation"
      }, {
        "code": "718211000119104",
        "display": "Disorder due to trinucleotide repeat expansion"
      }, {
        "code": "416010008",
        "display": "Disorder due to uniparental disomy"
      }, {
        "code": "429252008",
        "display": "Disorder due to genomic imprinting"
      }, {
        "code": "363235000",
        "display": "Multifactorial disorder"
      } ]
    } ]
  },
  "_filename": "ValueSet-mii-vs-seltene-genetic-basis.json",
  "package_name": "de.medizininformatikinitiative.kerndatensatz.seltene",
  "date": null,
  "publisher": "Medizininformatik Initiative",
  "name": "GeneticBasisValueSet",
  "type": null,
  "experimental": null,
  "resourceType": "ValueSet",
  "title": "MII VS SE Genetic Basis",
  "package_version": "2026.0.0-ballot",
  "status": "draft",
  "id": "63800363-2030-4e66-b9b5-9199f16ccf8e",
  "kind": null,
  "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-genetic-basis",
  "version": "2026.0.0-ballot",
  "contact": [ {
    "telecom": [ {
      "value": "https://www.medizininformatik-initiative.de",
      "system": "url"
    } ]
  } ]
}