SMARCB1 Schwannomatosis 1

Preferred Label : SMARCB1 Schwannomatosis 1;

NCIt definition : Schwannomatosis caused by germline mutations in the SMARCB1 gene.;

Neoplastic status : Benign;

NCI Metathesaurus CUI : CL1779198;

Details

Origin ID

C186703;

UMLS CUI

C5670707;

Disease excludes abnormal cell
- Malignant Cell [NCIt concept]
Disease may have findings
- Antoni B Pattern [NCIt concept]
- Encapsulated Mass [NCIt concept]
- Verocay Bodies Present [NCIt concept]
Has associated anatomic sites
- Nervous System [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
disease_excludes_finding
- Aggressive Clinical Course [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
- Necrotic Change [NCIt concept]
disease_has_abnormal_cell
- Neoplastic Cell [NCIt concept]
- Neoplastic Neuroepithelial Cell and Neoplastic Perineural Cell [NCIt concept]
- Neoplastic Perineural Cell [NCIt concept]
- Neoplastic Schwann Cell [NCIt concept]
disease_has_finding
- Antoni A Pattern [NCIt concept]
- Benign Cellular Infiltrate [NCIt concept]
- Hereditary Lesion [NCIt concept]
- Thick-Walled Hyalinized Vessels Present [NCIt concept]
- Widespread Disease [NCIt concept]
disease_has_grade
- Grade 1 [NCIt concept]
disease_has_molecular_abnormality
- Germline SMARCB1 Gene Mutation [NCIt concept]
- Loss of Merlin Expression [NCIt concept]
disease_has_normal_cell_origin
- Neuron, Neuroepithelial Cell, and Supporting Cell of the Nervous System [NCIt concept]
- Perineural Cell [NCIt concept]
- Schwann Cell [NCIt concept]
disease_has_normal_tissue_origin
- Nerve Tissue and Nerve Sheaths [NCIt concept]
- Nerve Tissue, Neuroepithelial Tissue, and Nerve Sheaths [NCIt concept]
- Sheath of Schwann [NCIt concept]
disease_has_primary_anatomic_site
- Nervous System [NCIt concept]
disease_mapped_to_gene
- NF2 Gene [NCIt concept]
- SMARCB1 Gene [NCIt concept]
disease_may_have_cytogenetic_abnormality
- Loss of Chromosome 22q [NCIt concept]
disease_may_have_molecular_abnormality
- NF2 Gene Inactivation [NCIt concept]
pathogenesis_of_disease_involves_gene
- SMARCB1 Gene [NCIt concept]
- SMARCB1 wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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