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Update diagnosis and tumorType per #575 #577

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Feb 12, 2025
Merged

Update diagnosis and tumorType per #575 #577

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037b4dd
Update diagnosis and tumorType per #575
anngvu Feb 7, 2025
be0634c
Rebuild NF.jsonld, json
nfosi-service Feb 10, 2025
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19 changes: 14 additions & 5 deletions NF.jsonld
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Original file line number Diff line number Diff line change
Expand Up @@ -4119,11 +4119,17 @@
{
"@id": "bts:SporadicSchwannoma"
},
{
"@id": "bts:VestibularSchwannoma"
},
{
"@id": "bts:NoonanSyndrome"
},
{
"@id": "bts:NotApplicable"
},
{
"@id": "bts:Unknown"
}
],
"sms:displayName": "diagnosis",
Expand Down Expand Up @@ -11103,11 +11109,11 @@
{
"@id": "bts:VestibularSchwannoma",
"@type": "rdfs:Class",
"rdfs:comment": "Characterization of the manifestation of Vestibular schwannoma.",
"rdfs:comment": "TBD",
"rdfs:label": "VestibularSchwannoma",
"rdfs:subClassOf": [
{
"@id": "bts:Thing"
"@id": "bts:Diagnosis"
}
],
"schema:isPartOf": {
Expand All @@ -11130,7 +11136,7 @@
"@id": "bts:Unknown"
}
],
"sms:displayName": "vestibularSchwannoma",
"sms:displayName": "Vestibular Schwannoma",
"sms:required": "sms:false",
"sms:validationRules": []
},
Expand Down Expand Up @@ -20780,6 +20786,9 @@
{
"@id": "bts:Meningioma"
},
{
"@id": "bts:Diagnosis"
},
{
"@id": "bts:LibraryPreparationMethod"
},
Expand Down Expand Up @@ -21940,10 +21949,10 @@
"@id": "bts:LibraryStrand"
},
{
"@id": "bts:Diagnosis"
"@id": "bts:ProgressReportNumber"
},
{
"@id": "bts:ProgressReportNumber"
"@id": "bts:Diagnosis"
},
{
"@id": "bts:TumorType"
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3 changes: 3 additions & 0 deletions modules/Sample/Diagnosis.yaml
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Expand Up @@ -26,10 +26,13 @@ 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
Vestibular Schwannoma:
meaning: http://purl.obolibrary.org/obo/NCIT_C3276
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:
Unknown:

AgeGroupEnum:
permissible_values:
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2 changes: 1 addition & 1 deletion modules/Sample/Tumor.yaml
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Expand Up @@ -20,7 +20,7 @@ enums:
description: MPNST
meaning: https://oncotree.mskcc.org/?version=oncotree_latest_stable&field=MPNST
Localized Neurofibroma:
description: ''
description: Refers to Cutaneous Neurofibroma; this is a synonym used mainly for compatibility with JHU Biobank.
notes:
- JHU Biobank
Cutaneous Neurofibroma:
Expand Down