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Source1

{
  "resourceType": "ValueSet",
  "id": "mii-vs-seltene-genetic-basis",
  "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-genetic-basis",
  "version": "2026.0.0",
  "name": "GeneticBasisValueSet",
  "title": "MII VS SE Genetic Basis",
  "status": "active",
  "publisher": "Medizininformatik Initiative",
  "contact": [
    {
      "telecom": [
        {
          "system": "url",
          "value": "https://www.medizininformatik-initiative.de"
        }
      ]
    }
  ],
  "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"
          }
        ]
      }
    ]
  }
}