Schwannomatosis

Preferred Label : Schwannomatosis;

NCIt synonyms : Neurilemmomatosis;

NCIt related terms : Neurinomatosis;

NCIt definition : Rare genetic disorder caused by mutations in the SMARCB1 and LZTR1 genes. It is characterized by the presence of multiple Schwannomas.;

Neoplastic status : Benign;

ICD-O code : 9560/1;

Details

Origin ID

C6557;

UMLS CUI

C1335929;

Automatic exact mappings (from CISMeF team)
- Neurinomatosis [ICD-9 code]
- Neurinomatosis [ICD-O code]
- neurofibromatoses [MeSH Descriptor]
Currated CISMeF NLP mapping
- Schwannomatosis [ICD-9 code]
- Schwannomatosis [OMIM phenotypic series]
- Schwannomatosis [MeSH concept]
- Schwannomatosis [Radlex concept]
- Schwannomatosis (disorder) [SNOMED CT concept]
- neurilemmomatosis [DO Concept]
- schwannomatosis [MeSH Supplementary Concept]
DO Cross reference
- neurilemmomatosis [DO Concept]
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]
See also inter- (CISMeF)
- Full schwannomatosis [ORDO Disease]
- Neurinomatosis (morphologic abnormality) [Inactive SNOMED CT concept]
- Neurofibromatosis type 3 [ICD-11 Sub-sub category]
- Neurofibromatosis type 3 (disorder) [Inactive SNOMED CT concept]
- neurinomatosis [SNOMED Notion]
- neurofibromatosis 3 [MeSH concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Full schwannomatosis [ORDO Disease]
- Schwannomatosis [MeSH concept]
- Schwannomatosis [Radlex concept]
- Schwannomatosis [ICD-9 code]
- Schwannomatosis (disorder) [SNOMED CT concept]
- neurilemmomatosis [DO Concept]
- schwannomatosis [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Schwannomatosis 1 [OMIM Phenotype]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- CPTAC Codelists Terminology [NCIt concept]
- CPTAC Neoplasms Codelist [NCIt concept]
- CPTAC Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
- Mapped ICDO3.1 Morphology PT Terminology [NCIt concept]
- Mapped ICDO3.1 Morphology Terminology [NCIt concept]
- Mapped ICDO3.1 Terminology [NCIt concept]
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
- 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]
disease_may_have_cytogenetic_abnormality
- Loss of Chromosome 22q [NCIt concept]
disease_may_have_molecular_abnormality
- NF2 Gene Inactivation [NCIt concept]
related_to_genetic_biomarker
- LZTR1 Gene [NCIt concept]
- SMARCB1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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