FHIR IG analytics| Package | de.medizininformatikinitiative.kerndatensatz.molgen |
| Resource Type | ServiceRequest |
| Id | ServiceRequest-mii-exa-molgen-anforderung-2.json |
| FHIR Version | R4 |
No resources found
No resources found
Note: links and images are rebased to the (stated) source
English
Generated Narrative: ServiceRequest mii-exa-molgen-anforderung-2
Profile: MII PR MolGen Anforderung genetischer Test version: 2027.0.0-ballot.1
identifier: https://www.charite.de/fhir/auftragsnummern/gen_test_02
status: Active
intent: Order
category: Laboratory procedure (procedure)
code: Molekulargenetische Diagnose eines Cornelia de Lange-Syndrom (MIM122470),autosomal dominanter Erbgang
subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))
authoredOn: 2022-03-16
requester: Practitioner Dr. Linda Rubens(official)
reasonCode: Premature infant (finding), Low birth weight infant (disorder), Fetal microcephaly (disorder), Carrier of muscular dystrophy (finding), Long eyelashes
reasonReference:
German
Generated Narrative: ServiceRequest mii-exa-molgen-anforderung-2
Profile: MII PR MolGen Anforderung genetischer Test version: 2027.0.0-ballot.1
identifier: https://www.charite.de/fhir/auftragsnummern/gen_test_02
status: Active
intent: Order
category: Laboratory procedure (procedure)
code: Molekulargenetische Diagnose eines Cornelia de Lange-Syndrom (MIM122470),autosomal dominanter Erbgang
subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Krankenaktennummer (use: usual, ))
authoredOn: 2022-03-16
requester: Practitioner Dr. Linda Rubens(official)
reasonCode: Premature infant (finding), Low birth weight infant (disorder), Fetal microcephaly (disorder), Carrier of muscular dystrophy (finding), Long eyelashes
reasonReference:
{
"resourceType": "ServiceRequest",
"id": "mii-exa-molgen-anforderung-2",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/anforderung-genetischer-test|2027.0.0-ballot.1"
]
},
"text": {
"status": "generated",
"div": "<!-- snip (see above) -->"
},
"identifier": [
{
"system": "https://www.charite.de/fhir/auftragsnummern",
"value": "gen_test_02"
}
],
"status": "active",
"intent": "order",
"category": [
{
"coding": [
{
"system": "http://snomed.info/sct",
"code": "108252007",
"display": "Laboratory procedure (procedure)"
}
]
}
],
"code": {
"coding": [
{
"system": "http://snomed.info/sct",
"code": "405825005",
"display": "Molecular genetic test (procedure)"
},
{
"system": "http://loinc.org",
"code": "40428-5",
"display": "NIPBL gene targeted mutation analysis in Blood or Tissue by Molecular genetics method"
},
{
"system": "http://www.genenames.org/geneId",
"code": "HGNC:28862",
"display": "NIPBL"
}
],
"text": "Molekulargenetische Diagnose eines Cornelia de Lange-Syndrom (MIM122470),autosomal dominanter Erbgang"
},
"subject": {
"reference": "Patient/mii-exa-molgen-patient-2"
},
"authoredOn": "2022-03-16",
"requester": {
"reference": "Practitioner/mii-exa-molgen-practitioner-physician"
},
"reasonCode": [
{
"coding": [
{
"system": "http://snomed.info/sct",
"code": "395507008",
"display": "Premature infant (finding)"
}
]
},
{
"coding": [
{
"system": "http://snomed.info/sct",
"code": "276610007",
"display": "Low birth weight infant (disorder)"
},
{
"system": "http://human-phenotype-ontology.org",
"code": "HP:0001518",
"display": "Small for gestational age"
}
]
},
{
"coding": [
{
"system": "http://snomed.info/sct",
"code": "431265009",
"display": "Fetal microcephaly (disorder)"
},
{
"system": "http://human-phenotype-ontology.org",
"code": "HP:0000252",
"display": "Microcephaly"
}
]
},
{
"coding": [
{
"system": "http://snomed.info/sct",
"code": "137511000119103",
"display": "Carrier of muscular dystrophy (finding)"
},
{
"system": "http://human-phenotype-ontology.org",
"code": "HP:0003560",
"display": "Muscular dystrophy"
}
]
},
{
"coding": [
{
"system": "http://human-phenotype-ontology.org",
"code": "HP:0000527",
"display": "Long eyelashes"
}
]
}
],
"reasonReference": [
{
"reference": "Observation/mii-exa-molgen-phenotypic-feature-1"
},
{
"reference": "Observation/mii-exa-molgen-phenotypic-feature-2"
},
{
"reference": "Observation/mii-exa-molgen-phenotypic-feature-3"
},
{
"reference": "Observation/mii-exa-molgen-phenotypic-feature-4"
}
],
"specimen": [
{
"reference": "Specimen/mii-exa-molgen-specimen-2"
}
]
}