FHIR IG analytics| Package | de.medizininformatikinitiative.kerndatensatz.molgen |
| Resource Type | Procedure |
| Id | Procedure-mii-exa-molgen-genomic-study-analysis-cornelia-de-lange.json |
| FHIR Version | R4 |
No resources found
No resources found
Note: links and images are rebased to the (stated) source
English
Generated Narrative: Procedure mii-exa-molgen-genomic-study-analysis-cornelia-de-lange
Profiles: MII PR MolGen Genomic Study Analysis, https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genomic-study-analysis|2027.0.0-ballot.1
Genomic Study Analysis Specimen: Specimen: identifier = https://www.charite.de/fhir/sid/bioproben#specimen_02; status = available; type = Blood specimen with edetic acid (specimen); receivedTime = 2021-11-24
Genomic Study Analysis Device
Genomic Study Analysis Method Type: Sequencing
Genomic Study Analysis Regions
- description: Cornelia de Lange Panel: Alle kodierenden Exons der Gene NIPBL, HDAC8, RAD21, SMC1A, SMC3, TP63
- studied: NIPBL
- studied: HDAC8
- studied: RAD21
- studied: SMC1A
- studied: SMC3
- studied: TP63
status: Completed
category: Laboratory
subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))
German
Generated Narrative: Procedure mii-exa-molgen-genomic-study-analysis-cornelia-de-lange
Profiles: MII PR MolGen Genomic Study Analysis, https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genomic-study-analysis|2027.0.0-ballot.1
Genomic Study Analysis Specimen: Specimen: identifier = https://www.charite.de/fhir/sid/bioproben#specimen_02; status = available; type = Blood specimen with edetic acid (specimen); receivedTime = 2021-11-24
Genomic Study Analysis Device
Genomic Study Analysis Method Type: Sequencing
Genomic Study Analysis Regions
- description: Cornelia de Lange Panel: Alle kodierenden Exons der Gene NIPBL, HDAC8, RAD21, SMC1A, SMC3, TP63
- studied: NIPBL
- studied: HDAC8
- studied: RAD21
- studied: SMC1A
- studied: SMC3
- studied: TP63
status: Completed
category: Laboratory
subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Krankenaktennummer (use: usual, ))
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{
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"valueCodeableConcept": {
"coding": [
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"code": "HGNC:15979",
"display": "TP63"
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],
"status": "completed",
"category": {
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