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": "PrenatalDiagImpGlycogenStorageDiseasePatientMale",
  "meta": {
    "versionId": "1",
    "lastUpdated": "2024-10-02T03:41:34.767+00:00",
    "source": "#JVN7S7CW0og8nwN0",
    "profile": [
      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"
    ]
  },
  "text": {
    "status": "extensions",
    "div": "<!-- snip (see above) -->"
  },
  "extension": [
    {
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment",
      "valueReference": {
        "reference": "RiskAssessment/PrenatalResidualRiskGlycogenStorageDiseasePatientMale",
        "display": "glycogen storage disease type III Residual Risk"
      }
    }
  ],
  "status": "final",
  "category": [
    {
      "coding": [
        {
          "system": "http://terminology.hl7.org/CodeSystem/observation-category",
          "code": "laboratory"
        }
      ]
    },
    {
      "coding": [
        {
          "system": "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code": "GE"
        }
      ]
    }
  ],
  "code": {
    "coding": [
      {
        "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
        "code": "diagnostic-implication",
        "display": "Diagnostic Implication"
      }
    ]
  },
  "subject": {
    "reference": "Patient/PatientMale"
  },
  "effectiveDateTime": "2024-06-26",
  "performer": [
    {
      "reference": "Practitioner/PractitionerLabDirector"
    }
  ],
  "derivedFrom": [
    {
      "reference": "Observation/PrenatalVariantGlycogenStorageDiseaseTypePatientMale"
    }
  ],
  "component": [
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "81259-4",
            "display": "Associated phenotype"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://snomed.info/sct",
            "code": "312969002",
            "display": "Normal genetic findings (finding)"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "81259-4",
            "display": "Associated phenotype"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://snomed.info/sct",
            "code": "66937008",
            "display": "Glycogen storage disease, type III"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
            "code": "condition-inheritance"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "code": "HP:0000007",
            "display": "Autosomal recessive inheritance"
          }
        ]
      }
    }
  ]
}