FHIR IG Statistics: StructureDefinition/mii-pr-mtb-einfache-variante

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{
  "resourceType": "StructureDefinition",
  "id": "mii-pr-mtb-einfache-variante",
  "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-einfache-variante",
  "version": "2024.0.0-ballot",
  "name": "MII_PR_MTB_Einfache_Variante",
  "title": "MII PR MTB Einfache Variante",
  "status": "draft",
  "publisher": "Medizininformatik Initiative",
  "contact": [
    {
      "telecom": [
        {
          "system": "url",
          "value": "https://www.medizininformatik-initiative.de"
        }
      ]
    }
  ],
  "description": "Beschreibt eine gefundene genetische Variante.",
  "fhirVersion": "4.0.1",
  "kind": "resource",
  "abstract": false,
  "type": "Observation",
  "baseDefinition": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante",
  "derivation": "constraint",
  "differential": {
    "element": [
      {
        "id": "Observation.meta",
        "path": "Observation.meta",
        "mustSupport": true
      },
      {
        "id": "Observation.meta.profile",
        "path": "Observation.meta.profile",
        "mustSupport": true
      },
      {
        "id": "Observation.identifier",
        "path": "Observation.identifier",
        "short": "VariantenId im Kontext des NGS-Befundes",
        "definition": "Eindeutige ID der Variante im Kontext des NGS-Befundes.",
        "mustSupport": true
      },
      {
        "id": "Observation.category",
        "path": "Observation.category",
        "slicing": {
          "discriminator": [
            {
              "type": "value",
              "path": "coding"
            }
          ],
          "description": "Slices for category",
          "ordered": false,
          "rules": "open"
        },
        "min": 2
      },
      {
        "id": "Observation.category:geCategory",
        "path": "Observation.category",
        "sliceName": "geCategory",
        "min": 1,
        "max": "1"
      },
      {
        "id": "Observation.category:geCategory.coding",
        "path": "Observation.category.coding",
        "min": 1,
        "max": "1",
        "patternCoding": {
          "code": "GE",
          "system": "http://terminology.hl7.org/CodeSystem/v2-0074"
        }
      },
      {
        "id": "Observation.focus",
        "path": "Observation.focus",
        "type": [
          {
            "code": "Reference",
            "targetProfile": [
              "https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/StructureDefinition/mii-pr-onko-diagnose-primaertumor",
              "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-diagnose-primaertumor"
            ]
          }
        ],
        "mustSupport": true
      },
      {
        "id": "Observation.component:gene-studied",
        "path": "Observation.component",
        "sliceName": "gene-studied",
        "definition": "Gen auf dem sich die Variante befindet."
      },
      {
        "id": "Observation.component:coding-hgvs",
        "path": "Observation.component",
        "sliceName": "coding-hgvs",
        "definition": "HGVS-kodierte Variantenbeschreibung im kodierenden Bereich auf DNA-Baseneben."
      },
      {
        "id": "Observation.component:transcript-ref-seq",
        "path": "Observation.component",
        "sliceName": "transcript-ref-seq",
        "short": "Transcript ID",
        "definition": "Ensemble Transcript ID ('ENST...')."
      },
      {
        "id": "Observation.component:transcript-ref-seq.value[x]",
        "path": "Observation.component.value[x]",
        "binding": {
          "strength": "required",
          "valueSet": "http://ensembl.org"
        }
      },
      {
        "id": "Observation.component:exact-start-end",
        "path": "Observation.component",
        "sliceName": "exact-start-end",
        "short": "Position",
        "definition": "Genaue Position der genetischen Variante."
      },
      {
        "id": "Observation.component:exact-start-end.code",
        "path": "Observation.component.code",
        "mustSupport": true
      },
      {
        "id": "Observation.component:exact-start-end.value[x]",
        "path": "Observation.component.value[x]",
        "mustSupport": true
      },
      {
        "id": "Observation.component:ref-allele",
        "path": "Observation.component",
        "sliceName": "ref-allele",
        "definition": "Referenzsequenz am Ort der genetischen Variante."
      },
      {
        "id": "Observation.component:alt-allele",
        "path": "Observation.component",
        "sliceName": "alt-allele",
        "definition": "Veränderte Sequenz."
      },
      {
        "id": "Observation.component:sample-allelic-frequency",
        "path": "Observation.component",
        "sliceName": "sample-allelic-frequency",
        "definition": "Relative Häufigkeit des Allels am Ort der Variante."
      },
      {
        "id": "Observation.component:allelic-read-depth",
        "path": "Observation.component",
        "sliceName": "allelic-read-depth",
        "definition": "Lesetiefe am Ort der Variante."
      },
      {
        "id": "Observation.component:variation-code",
        "path": "Observation.component",
        "sliceName": "variation-code",
        "definition": "Code der Variante in einer öffentlichen Datenbank (z.B. ClinVar)."
      },
      {
        "id": "Observation.component:chromosome-identifier",
        "path": "Observation.component",
        "sliceName": "chromosome-identifier",
        "definition": "Chromosome auf dem sich die Variante befindet (chr1 - chr22, chrX, chrY)."
      },
      {
        "id": "Observation.component:protein-hgvs",
        "path": "Observation.component",
        "sliceName": "protein-hgvs",
        "definition": "HGVS-kodierte Variantenbeschreibung im kodierenden Bereich auf Aminosäuren-Ebene."
      },
      {
        "id": "Observation.component:dna-region",
        "path": "Observation.component",
        "sliceName": "dna-region",
        "short": "Exon",
        "definition": "Menschenlesbarer Name des Exons als Text, typischeweise Exon #"
      }
    ]
  }
}