FHIRsmith: Procedure/Procedure-PrenatalGenomicStudyPatientMale.json

FHIR IG analytics

Package	fhir.gdx
Resource Type	Procedure
Id	Procedure-PrenatalGenomicStudyPatientMale.json
FHIR Version	R4

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Narrative

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

Generated Narrative: Procedure PrenatalGenomicStudyPatientMale

version: 2; Last updated: 2024-10-02 03:41:29+0000;

Information Source: #DEqMJP5Koyub2naR

Profile: Genomic Study

Genomic Study Analysis Extension: Procedure: extension = Germline,GRCh37,,,Copy number variation analysis in Blood or Tissue by Sequencing,Sequence analysis of select exons; status = completed; performed[x] = 2024-07-09; note = autosomal recessive spastic ataxia of Charlevoix-Saguenay - SACS. Autosomal recessive inheritance. sequencing with copy number analysis. Detection rate: Northern European 99%,No disease-causing mutations were detected in any other gene tested for autosomal recessive spastic ataxia of Charlevoix-Saguenay,Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jul 9, 2024,Report content approved by Krista Moyer, MGC on Jul 9, 2024

Genomic Study Analysis Extension: Procedure: extension = Germline,GRCh37,,,Copy number variation analysis in Blood or Tissue by Sequencing,Sequence analysis of select exons; status = completed; performed[x] = 2024-07-09; note = familial hyperinsulinism, ABCC8-related - ABCC8. Autosomal recessive inheritance. sequencing with copy number analysis. Detection rate: Northern European >99%,No disease-causing mutations were detected in any other gene tested for familial hyperinsulinism, ABCC8-related,Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jul 9, 2024,Report content approved by Krista Moyer, MGC on Jul 9, 2024

Genomic Study Analysis Extension: Procedure: extension = Germline,GRCh37,,,Copy number variation analysis in Blood or Tissue by Sequencing,Sequence analysis of select exons; status = completed; performed[x] = 2024-07-09; note = alpha-1 antitrypsin deficiency - SERPINA1. Autosomal recessive inheritance. sequencing with copy number analysis. Detection rate: Northern European >99%,No disease-causing mutations were detected in any other gene tested for alpha-1 antitrypsin deficiency,Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jul 9, 2024,Report content approved by Krista Moyer, MGC on Jul 9, 2024

status: Completed

category: Laboratory

subject: Higado Sobreviviente (official) Male, DoB: 1996-05-13 ( Patient ID: fec6172efdca41b4a13341e75cb62e0f (use: official, ))

performed: 2024-07-09

reasonCode: Pregnant - planned (finding)

note:

The <b>Organization Prenatal Carrier Screen</b> utilizes sequencing, maximizing coverage across all DNA regions tested, to help you learn about your chance to have a child with a genetic disease.

Source1

{
  "resourceType": "Procedure",
  "id": "PrenatalGenomicStudyPatientMale",
  "meta": {
    "versionId": "2",
    "lastUpdated": "2024-10-02T03:41:29.698+00:00",
    "source": "#DEqMJP5Koyub2naR",
    "profile": [
      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study"
    ]
  },
  "text": {
    "status": "extensions",
    "div": "<!-- snip (see above) -->"
  },
  "extension": [
    {
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext",
      "valueReference": {
        "reference": "Procedure/PrenatalGenomicStudyAnalysisAutosomalRecessiveSAoCSPatientMale"
      }
    },
    {
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext",
      "valueReference": {
        "reference": "Procedure/PrenatalGenomicStudyAnalysisFamilialHyperinsulinismPatientMale"
      }
    },
    {
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext",
      "valueReference": {
        "reference": "Procedure/PrenatalGenomicStudyAnalysisAlpha1ADPatientMale"
      }
    }
  ],
  "status": "completed",
  "category": {
    "coding": [
      {
        "system": "http://terminology.hl7.org/CodeSystem/observation-category",
        "code": "laboratory"
      }
    ]
  },
  "subject": {
    "reference": "Patient/PatientMale"
  },
  "performedDateTime": "2024-07-09",
  "reasonCode": [
    {
      "coding": [
        {
          "system": "http://snomed.info/sct",
          "code": "169565003",
          "display": "Pregnant - planned (finding)"
        }
      ]
    }
  ],
  "note": [
    {
      "text": "The <b>Organization Prenatal Carrier Screen</b> utilizes sequencing, maximizing coverage across all DNA regions tested, to help you learn about your chance to have a child with a genetic disease."
    }
  ]
}