FHIR IG analytics

Resources that use this resource

No resources found

Resources that this resource uses

No resources found

Narrative

Note: links and images are rebased to the (stated) source

Source1

{
  "resourceType": "Observation",
  "id": "mii-exa-seltene-molgen-variant-dmd-deletion-exon45-47",
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "status": "final",
  "category": [
    {
      "coding": [
        {
          "system": "http://terminology.hl7.org/CodeSystem/observation-category",
          "code": "laboratory"
        }
      ]
    }
  ],
  "code": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "69548-6",
        "display": "Genetic variant assessment"
      }
    ]
  },
  "subject": {
    "reference": "Patient/mii-exa-seltene-patient"
  },
  "effectiveDateTime": "2024-09-15",
  "valueCodeableConcept": {
    "coding": [
      {
        "system": "http://snomed.info/sct",
        "code": "10828004",
        "display": "Positive"
      }
    ]
  },
  "component": [
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "48018-6",
            "display": "Gene studied [ID]"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://www.genenames.org/geneId",
            "code": "HGNC:2928",
            "display": "DMD"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "48002-0",
            "display": "Genomic source class"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "LA6683-2",
            "display": "Germline"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "81290-9",
            "display": "Genomic DNA change (gHGVS)"
          }
        ]
      },
      "valueCodeableConcept": {
        "text": "NC_000023.11:g.31774346_31953400del"
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "48004-6",
            "display": "DNA change (c.HGVS)"
          }
        ]
      },
      "valueCodeableConcept": {
        "text": "c.6439-?_6912+?del"
      }
    },
    {
      "code": {
        "text": "Deleted Exons"
      },
      "valueString": "Exons 45-47"
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "53037-8",
            "display": "Genetic variation clinical significance [Imp]"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "LA6668-3",
            "display": "Pathogenic"
          }
        ]
      }
    }
  ]
}