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Resource StructureDefinition/FHIR Server from package de.medizininformatikinitiative.kerndatensatz.molgen#1.0.0 (62 ms)

Package de.medizininformatikinitiative.kerndatensatz.molgen
Type StructureDefinition
Id Id
FHIR Version R4
Source https://simplifier.net/resolve?scope=de.medizininformatikinitiative.kerndatensatz.molgen@1.0.0&canonical=https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/untersuchte-region
Url https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/untersuchte-region
Version 1.0.0
Status active
Name MII_PR_MolGen_UntersuchteRegion
Title MII PR MolGen Untersuchte Region
Experimental False
Realm de
Description Dieses Profil beschreibt die Region oder die Regionen, die im Rahmen dieses Befundberichts untersucht wurden.
Type Observation
Kind resource

Resources that use this resource

CapabilityStatement
https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/CapabilityStatement/metadata MII CPS MolGen CapabilityStatement
https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/molekulargenetischer-befundbericht MII PR MolGen Molekulargenetischer Befundbericht

Resources that this resource uses

StructureDefinition
https://www.medizininformatik-initiative.de/fhir/core/StructureDefinition/MII-Reference MII-Reference


Source

{
  "resourceType" : "StructureDefinition",
  "id" : "mii-pr-molgen-untersuchte-region",
  "extension" : [
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-category",
      "valueString" : "Clinical.Diagnostics"
    },
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-security-category",
      "valueCode" : "patient"
    }
  ],
  "url" : "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/untersuchte-region",
  "version" : "1.0.0",
  "name" : "MII_PR_MolGen_UntersuchteRegion",
  "title" : "MII PR MolGen Untersuchte Region",
  "status" : "active",
  "publisher" : "Medizininformatik Initiative",
  "contact" : [
    {
      "telecom" : [
        {
          "system" : "url",
          "value" : "https://www.medizininformatik-initiative.de"
        }
      ]
    }
  ],
  "description" : "Dieses Profil beschreibt die Region oder die Regionen, die im Rahmen dieses Befundberichts untersucht wurden.",
  "fhirVersion" : "4.0.1",
  "mapping" : [
    {
      "identity" : "workflow",
      "uri" : "http://hl7.org/fhir/workflow",
      "name" : "Workflow Pattern"
    },
    {
      "identity" : "sct-concept",
      "uri" : "http://snomed.info/conceptdomain",
      "name" : "SNOMED CT Concept Domain Binding"
    },
    {
      "identity" : "v2",
      "uri" : "http://hl7.org/v2",
      "name" : "HL7 v2 Mapping"
    },
    {
      "identity" : "rim",
      "uri" : "http://hl7.org/v3",
      "name" : "RIM Mapping"
    },
    {
      "identity" : "w5",
      "uri" : "http://hl7.org/fhir/fivews",
      "name" : "FiveWs Pattern Mapping"
    },
    {
      "identity" : "sct-attr",
      "uri" : "http://snomed.org/attributebinding",
      "name" : "SNOMED CT Attribute Binding"
    },
    {
      "identity" : "MII-KDS",
      "name" : "MII KDS Mapping"
    }
  ],
  "kind" : "resource",
  "abstract" : false,
  "type" : "Observation",
  "baseDefinition" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/region-studied",
  "derivation" : "constraint",
  "differential" : {
    "element" : [
      {
        "id" : "Observation.status",
        "path" : "Observation.status",
        "mustSupport" : true
      },
      {
        "id" : "Observation.category",
        "path" : "Observation.category",
        "mustSupport" : true
      },
      {
        "id" : "Observation.code",
        "path" : "Observation.code",
        "mustSupport" : true
      },
      {
        "id" : "Observation.subject",
        "path" : "Observation.subject",
        "min" : 1,
        "type" : [
          {
            "code" : "Reference",
            "profile" : [
              "https://www.medizininformatik-initiative.de/fhir/core/StructureDefinition/MII-Reference"
            ],
            "targetProfile" : [
              "http://hl7.org/fhir/StructureDefinition/Patient",
              "http://hl7.org/fhir/StructureDefinition/Group"
            ]
          }
        ],
        "mustSupport" : true
      },
      {
        "id" : "Observation.encounter",
        "path" : "Observation.encounter",
        "mustSupport" : true
      },
      {
        "id" : "Observation.component:conclusion-string",
        "path" : "Observation.component",
        "sliceName" : "conclusion-string",
        "mustSupport" : true
      },
      {
        "id" : "Observation.component:gene-studied",
        "path" : "Observation.component",
        "sliceName" : "gene-studied",
        "mustSupport" : true,
        "mapping" : [
          {
            "identity" : "MII-KDS",
            "map" : "mide-dataelement-1400",
            "comment" : "Getestete Gene ID"
          }
        ]
      },
      {
        "id" : "Observation.component:gene-mutations",
        "path" : "Observation.component",
        "sliceName" : "gene-mutations",
        "mustSupport" : true
      },
      {
        "id" : "Observation.component:region-description",
        "path" : "Observation.component",
        "sliceName" : "region-description",
        "mustSupport" : true
      },
      {
        "id" : "Observation.component:region-coverage",
        "path" : "Observation.component",
        "sliceName" : "region-coverage",
        "mustSupport" : true,
        "mapping" : [
          {
            "identity" : "MII-KDS",
            "map" : "mide-dataelement-1407",
            "comment" : "Read depth/Coverage"
          }
        ]
      },
      {
        "id" : "Observation.component:ranges-examined",
        "path" : "Observation.component",
        "sliceName" : "ranges-examined",
        "mustSupport" : true
      },
      {
        "id" : "Observation.component:genomic-ref-seq",
        "path" : "Observation.component",
        "sliceName" : "genomic-ref-seq",
        "mustSupport" : true,
        "mapping" : [
          {
            "identity" : "MII-KDS",
            "map" : "mide-dataelement-1405",
            "comment" : "Referenzsequenz"
          }
        ]
      },
      {
        "id" : "Observation.component:uncallable-regions",
        "path" : "Observation.component",
        "sliceName" : "uncallable-regions",
        "mustSupport" : true
      },
      {
        "id" : "Observation.component:transcript-ref-seq",
        "path" : "Observation.component",
        "sliceName" : "transcript-ref-seq",
        "short" : "Reference Transcript",
        "definition" : "NCBI's RefSeq ('NM_...'), Ensembl ('ENST...'), and LRG ('LRG...' plus 't1' to indicate transcript)",
        "min" : 0,
        "max" : "1",
        "mustSupport" : true
      },
      {
        "id" : "Observation.component:transcript-ref-seq.code",
        "path" : "Observation.component.code",
        "short" : "51958-7",
        "patternCodeableConcept" : {
          "coding" : [
            {
              "code" : "51958-7",
              "system" : "http://loinc.org"
            }
          ]
        }
      },
      {
        "id" : "Observation.component:transcript-ref-seq.value[x]",
        "path" : "Observation.component.value[x]",
        "short" : "Versioned transcript reference sequence identifier",
        "min" : 1,
        "type" : [
          {
            "code" : "CodeableConcept"
          }
        ],
        "binding" : {
          "strength" : "example",
          "description" : "Multiple bindings acceptable (NCBI or LRG)"
        }
      }
    ]
  },
  "text" : {
  }
}

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