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add GE MRI #443

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28 changes: 27 additions & 1 deletion NF.jsonld
Original file line number Diff line number Diff line change
Expand Up @@ -1074,7 +1074,7 @@
"@id" : "http://schema.biothings.io/"
},
"sms:required" : "sms:true",
"sms:validationRules" : [ ],
"sms:validationRules" : [ "list like" ],
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"schema:rangeIncludes" : [ {
"@id" : "bts:Neurofibromatosistype1"
}, {
Expand All @@ -1093,6 +1093,8 @@
"@id" : "bts:Schwannomatosis-NEC"
}, {
"@id" : "bts:SporadicSchwannoma"
}, {
"@id" : "bts:NoonanSyndrome"
}, {
"@id" : "bts:NotApplicable"
} ],
Expand Down Expand Up @@ -6071,6 +6073,8 @@
"@id" : "bts:LeicaS9Stereomicroscope"
}, {
"@id" : "bts:PhilipsAchieva3T"
}, {
"@id" : "bts:GEPremier3T"
}, {
"@id" : "bts:ZenoElectronicWalkway"
}, {
Expand Down Expand Up @@ -10059,6 +10063,17 @@
},
"sms:displayName" : "icNF97.2b",
"sms:required" : "sms:false"
}, {
"@id" : "bts:NoonanSyndrome",
"@type" : "rdfs:Class",
"rdfs:comment" : "TBD",
"rdfs:label" : "NoonanSyndrome",
"rdfs:subClassOf" : [ ],
"schema:isPartOf" : {
"@id" : "http://schema.biothings.io/"
},
"sms:displayName" : "Noonan Syndrome",
"sms:required" : "sms:false"
}, {
"@id" : "bts:plink",
"@type" : "rdfs:Class",
Expand Down Expand Up @@ -14910,6 +14925,17 @@
},
"sms:displayName" : "University of Colorado Boulder",
"sms:required" : "sms:false"
}, {
"@id" : "bts:GEPremier3T",
"@type" : "rdfs:Class",
"rdfs:comment" : "TBD",
"rdfs:label" : "GEPremier3T",
"rdfs:subClassOf" : [ ],
"schema:isPartOf" : {
"@id" : "http://schema.biothings.io/"
},
"sms:displayName" : "GE Premier 3T",
"sms:required" : "sms:false"
}, {
"@id" : "bts:UniversityofTexasSouthwesternMedicalCenter",
"@type" : "rdfs:Class",
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3 changes: 3 additions & 0 deletions modules/Assay/Platform.yaml
Original file line number Diff line number Diff line change
Expand Up @@ -190,6 +190,9 @@ enums:
Philips Achieva 3T:
description: Complete 3T MRI system, it offers an extremely broad clinical reach from routine head, spine and musculoskeletal imaging to the most advanced exams.
source: https://clinicalimagingsystems.com/product/philips-achieva-3-0t-mri-scanner/
GE Premier 3T:
description: The GE Premier 3T is an advanced MRI scanner that offers high-resolution imaging capabilities and a 70 cm wide bore for patient comfort
source: ChatGPT (May 7 2024)
Zeno Electronic Walkway:
description: System for gait analysis.
source: https://pubmed.ncbi.nlm.nih.gov/29286982/
Expand Down
5 changes: 4 additions & 1 deletion modules/Sample/Diagnosis.yaml
Original file line number Diff line number Diff line change
Expand Up @@ -12,7 +12,7 @@ enums:
# meaning: https://www.ebi.ac.uk/ols/ontologies/cco/terms?iri=http%3A%2F%2Fidentifiers.org%2Fomim%2F101000
Schwannomatosis:
description: A rare genetic disorder characterized by the presence of multiple schwannomas.
meaning: https://www.ebi.ac.uk/ols/ontologies/ncit/terms?iri=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FNCIT_C6557
meaning: http://purl.obolibrary.org/obo/NCIT_C6557
NF2-related schwannomatosis:
description: Previously known as Neurofibromatosis type 2.
SMARCB1-related schwannomatosis:
Expand All @@ -26,6 +26,9 @@ enums:
Most schwannomas originate from the eighth cranial nerve, whereas neurofibromas more commonly arise along the spinal nerve roots.
notes:
- Not in NCIT as of 2023-06-07
Noonan Syndrome:
description: A rare, highly variable, multisystemic disorder mainly characterized by short stature, distinctive facial features, congenital heart defects, cardiomyopathy and an increased risk to develop tumors in childhood.
meaning: http://www.orpha.net/ORDO/Orphanet_648
Not Applicable:

AgeGroupEnum:
Expand Down
2 changes: 2 additions & 0 deletions modules/props.yaml
Original file line number Diff line number Diff line change
Expand Up @@ -340,6 +340,8 @@ slots:
range: string
required: false
diagnosis:
annotations:
validationRules: list like
description: Diagnosis for the individual given signs and symptoms. Use the most specific diagnosis term that applies.
range: DiagnosisEnum
required: true
Expand Down