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Packagede.medizininformatikinitiative.kerndatensatz.seltene
Resource TypeClinicalImpression
IdClinicalImpression-mii-exa-seltene-clinical-impression-erstvorstellung.json
FHIR VersionR4

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Narrative

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


English


Generated Narrative: ClinicalImpression mii-exa-seltene-clinical-impression-erstvorstellung

Profile: MII Profile SE Clinical Impression version: 2027.0.0-ballot

status: Completed

subject: Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)

encounter: Encounter: status = finished; class = ambulatory (ActCode#AMB); type = Follow-up encounter; period = 2024-07-22 --> 2024-07-22

effective: 2024-07-22

date: 2024-07-22

problem: Condition Werdnig-Hoffmann disease

investigation

code: Familienanamnese

item: FamilyMemberHistory: extension = Unknown; status = completed; date = 2024-07-22; relationship = Great grandmother

investigation

code: Labordiagnostik

item: Observation Troponin T.cardiac [Mass/volume] in Serum or Plasma

summary: Neugeborenes mit V.a. SMA aus Neugeborenenscreening. Familienanamnese zeigt unklare Muskelerkrankung der Urgroßmutter. Troponin T bereits erhöht (92 ng/l).

finding

itemReference: Condition Infantile spinale Muskelatrophie, Typ I [Typ Werdnig-Hoffmann]

finding

itemReference: Condition Spinal muscular atrophy, type I

finding

itemCodeableConcept: Troponin above reference range

itemReference: Observation Troponin T.cardiac [Mass/volume] in Serum or Plasma

prognosisCodeableConcept: Guarded prognosis

note: ,

Klinische Untersuchung gemäß SMA-Diagnoseprotokoll. Blutentnahme für Genetik veranlasst.

Klinisches Bild vereinbar mit SMA Typ 1. Molekulargenetische Bestätigung ausstehend. Eltern über Therapieoptionen informiert.


German


Generated Narrative: ClinicalImpression mii-exa-seltene-clinical-impression-erstvorstellung

Profile: MII Profile SE Clinical Impression version: 2027.0.0-ballot

status: Completed

subject: Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)

encounter: Encounter: status = finished; class = ambulatory (ActCode#AMB); type = Follow-up encounter; period = 2024-07-22 --> 2024-07-22

effective: 2024-07-22

date: 2024-07-22

problem: Condition Werdnig-Hoffmann disease

investigation

code: Familienanamnese

item: FamilyMemberHistory: extension = Unknown; status = completed; date = 2024-07-22; relationship = Great grandmother

investigation

code: Labordiagnostik

item: Observation Troponin T.cardiac [Mass/volume] in Serum or Plasma

summary: Neugeborenes mit V.a. SMA aus Neugeborenenscreening. Familienanamnese zeigt unklare Muskelerkrankung der Urgroßmutter. Troponin T bereits erhöht (92 ng/l).

finding

itemReference: Condition Infantile spinale Muskelatrophie, Typ I [Typ Werdnig-Hoffmann]

finding

itemReference: Condition Spinal muscular atrophy, type I

finding

itemCodeableConcept: Troponin above reference range

itemReference: Observation Troponin T.cardiac [Mass/volume] in Serum or Plasma

prognosisCodeableConcept: Guarded prognosis

note: ,

Klinische Untersuchung gemäß SMA-Diagnoseprotokoll. Blutentnahme für Genetik veranlasst.

Klinisches Bild vereinbar mit SMA Typ 1. Molekulargenetische Bestätigung ausstehend. Eltern über Therapieoptionen informiert.


Source1

{
  "resourceType": "ClinicalImpression",
  "id": "mii-exa-seltene-clinical-impression-erstvorstellung",
  "meta": {
    "profile": [
      "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-clinical-impression|2027.0.0-ballot"
    ]
  },
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "status": "completed",
  "subject": {
    "reference": "Patient/mii-exa-seltene-patient-sma-001"
  },
  "encounter": {
    "reference": "Encounter/mii-exa-seltene-encounter-ambulant-001"
  },
  "effectiveDateTime": "2024-07-22",
  "date": "2024-07-22",
  "problem": [
    {
      "reference": "Condition/mii-exa-seltene-condition-sma-suspected"
    }
  ],
  "investigation": [
    {
      "code": {
        "text": "Familienanamnese"
      },
      "item": [
        {
          "reference": "FamilyMemberHistory/mii-exa-seltene-family-history-001"
        }
      ]
    },
    {
      "code": {
        "text": "Labordiagnostik"
      },
      "item": [
        {
          "reference": "Observation/mii-exa-seltene-observation-troponin-001"
        }
      ]
    }
  ],
  "summary": "Neugeborenes mit V.a. SMA aus Neugeborenenscreening. Familienanamnese zeigt unklare Muskelerkrankung der Urgroßmutter. Troponin T bereits erhöht (92 ng/l).",
  "finding": [
    {
      "itemReference": {
        "reference": "Condition/mii-exa-seltene-condition-sma-clinical"
      }
    },
    {
      "itemReference": {
        "reference": "Condition/mii-exa-seltene-condition-sma-genetic"
      }
    },
    {
      "itemCodeableConcept": {
        "coding": [
          {
            "system": "http://snomed.info/sct",
            "code": "1363512008",
            "display": "Troponin above reference range"
          }
        ]
      },
      "itemReference": {
        "reference": "Observation/mii-exa-seltene-observation-troponin-001"
      }
    }
  ],
  "prognosisCodeableConcept": [
    {
      "coding": [
        {
          "system": "http://snomed.info/sct",
          "code": "67334001",
          "display": "Guarded prognosis"
        }
      ]
    }
  ],
  "note": [
    {
      "text": "Klinische Untersuchung gemäß SMA-Diagnoseprotokoll. Blutentnahme für Genetik veranlasst."
    },
    {
      "text": "Klinisches Bild vereinbar mit SMA Typ 1. Molekulargenetische Bestätigung ausstehend. Eltern über Therapieoptionen informiert."
    }
  ]
}