Brooke-Spiegler Syndrome

Preferred Label : Brooke-Spiegler Syndrome;

NCIt synonyms : Ancell-Spiegler Syndrome; Turban Tumor Syndrome; BSS; TTS;

NCIt related terms : Turban tumor;

NCIt definition : A rare autosomal dominant genodermatosis associated with germline mutations of the CYLD tumor suppressor gene. It is characterized by the development of multiple adnexal tumors (usually cylindromas and trichoepitheliomas), typically in the skin of the scalp. It manifests with numerous papules and/or large dome-shaped nodules on the scalp, resembling a turban.;

Details

Origin ID

C43352;

UMLS CUI

C1851526;

Automatic exact mappings (from CISMeF team)
- Turban tumor (disorder) [SNOMED CT concept]
- Turban tumor (morphologic abnormality) [SNOMED CT concept]
- Turban tumour [ICD-11 Extension code]
Currated CISMeF NLP mapping
- Brooke Spiegler syndrome [Disease (Nov.)]
- Brooke-Spiegler syndrome [ORDO Disease]
- Brooke-Spiegler syndrome [DO Concept]
- Brooke-Spiegler syndrome [PASCAL descriptor]
- Brooke-Spiegler syndrome [MeSH concept]
- Brooke-Spiegler syndrome (disorder) [SNOMED CT concept]
- Brooke-spiegler syndrome [OMIM Phenotype]
- Cylindromatosis, familial [OMIM Phenotype]
- Eccrine dermal cylindroma (morphologic abnormality) [SNOMED CT concept]
- Eccrine dermal cylindroma of skin (disorder) [SNOMED CT concept]
- Familial cylindromatosis [ORDO Disease]
- Familial cylindromatosis [MeSH concept]
- eccrine dermal cylindroma [SNOMED Notion]
- familial cylindromatosis [Disease (Nov.)]
- familial cylindromatosis [MeSH Supplementary Concept]
Disease may have findings
- Papular Lesion [NCIt concept]
- Skin Nodule [NCIt concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
- Skin [NCIt concept]
Semantic type(s)
- Pathologic Function [UMLS semantic type]
UMLS correspondences (same concept)
- Cylindroma of skin (morphologic abnormality) [SNOMED CT concept]
- Cylindromatosis, familial [OMIM Phenotype]
- Eccrine dermal cylindroma (morphologic abnormality) [SNOMED CT concept]
- Turban tumor (morphologic abnormality) [SNOMED CT concept]
- familial cylindromatosis [MeSH Supplementary Concept]
associated_with_malfunction_of_gene_product
- Ubiquitin Carboxyl-Terminal Hydrolase CYLD [NCIt concept]
concept_is_in_subset
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
disease_excludes_finding
- Borderline Lesion [NCIt concept]
- Dysplasia [NCIt concept]
- Invasive Lesion [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
disease_has_associated_disease
- Skin Appendage Neoplasm [NCIt concept]
disease_has_finding
- Adnexal Differentiation [NCIt concept]
- Benign Cellular Infiltrate [NCIt concept]
- Cutaneous Involvement [NCIt concept]
- Epithelial Component Present [NCIt concept]
- Hereditary Lesion [NCIt concept]
- Multifocal Lesion [NCIt concept]
- Multinodular Pattern [NCIt concept]
- Rare Lesion [NCIt concept]
disease_has_molecular_abnormality
- Germline CYLD Gene Mutation [NCIt concept]
disease_has_primary_anatomic_site
- Exocrine System [NCIt concept]
- Head [NCIt concept]
- Skin [NCIt concept]
- Sweat Gland [NCIt concept]
disease_mapped_to_gene
- CYLD Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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