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Update Diagnosis.yaml
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allaway authored May 28, 2024
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5 changes: 4 additions & 1 deletion modules/Sample/Diagnosis.yaml
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# 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:
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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:
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