familial cylindromatosis

Preferred Label : familial cylindromatosis;

MeSH note : familial cylindromatosis is caused by mutations in CYLD;

CISMeF synonym : 'Turban tumor' syndrome; Brooke-Spiegler syndrome;

MeSH synonym : turban tumor syndrome; Ancell-Spiegler cylindromas; cylindromatosis, familial; turban tumors; cylindromas, dermal eccrine; dermal eccrine cylindroma; familial trichoepithelioma;

MeSH hyponym : Epithelioma, hereditary multiple benign cystic; Hereditary Multiple Benign Cystic Epithelioma; Brooke-Fordyce Trichoepitheliomas; Multiple Familial Trichoepithelioma; Epithelioma adenoides cysticum of Brooke; Trichoepithelioma, Multiple Familial, 1;

Related MeSH term : Spiegler-Brooke syndrome;

Details

Origin ID

C536611;

UMLS CUI

C1851526;

Automatic exact mappings (from CISMeF team)
- Eccrine dermal cylindroma [ICD-11 Extension code]
- Familial multiple trichoepithelioma [ORDO Disease]
- Familial multiple trichoepitheliomata (disorder) [SNOMED CT concept]
- Multiple familial trichoepithelioma [ICD-11 More detail]
- Trichoepithelioma, multiple familial, 1 [OMIM Phenotype]
- Turban tumour [ICD-11 Extension code]
CISMeF manual mappings
- eccrine dermal cylindroma [SNOMED Notion]
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 (disorder) [SNOMED CT concept]
- Brooke-spiegler syndrome [OMIM Phenotype]
- Cylindromatosis, familial [OMIM Phenotype]
- Eccrine dermal cylindroma of skin (disorder) [SNOMED CT concept]
- Familial cylindromatosis [ORDO Disease]
- Turban Tumor [NCIt concept]
- familial cylindromatosis [Disease (Nov.)]
MeSH term(s) associated for indexing
- neoplastic syndromes, hereditary [MeSH Descriptor]
- skin neoplasms [MeSH Descriptor]
ORDO relation(s)
- Brooke-Spiegler syndrome [ORDO Disease]
- Familial cylindromatosis [ORDO Disease]
Record concept(s)
- Brooke-Spiegler syndrome [MeSH concept]
- Familial cylindromatosis [MeSH concept]
- Trichoepithelioma multiple familial [MeSH concept]
See also inter- (CISMeF)
- Cylindroma of skin (morphologic abnormality) [SNOMED CT concept]
- Dermal cylindroma [MedDRA LLT]
- Eccrine dermal cylindroma [ICD-O code]
- Eccrine dermal cylindroma (morphologic abnormality) [SNOMED CT concept]
- Turban tumor (morphologic abnormality) [SNOMED CT concept]
Semantic type(s)
- Pathologic Function [UMLS semantic type]
UMLS correspondences (same concept)
- Cylindroma [NCIt concept]
- Cylindroma [HPO term]
- Cylindromatosis, familial [OMIM Phenotype]
- Dermal cylindroma [MedDRA LLT]
- Eccrine dermal cylindroma of skin (disorder) [SNOMED CT concept]
- Familial cylindromatosis [ORDO Disease]
- Turban Tumor [NCIt concept]
- Turban tumor (morphologic abnormality) [SNOMED CT concept]
- eccrine dermal cylindroma [SNOMED Notion]
Validated automatic mappings to NTBT
- Cylindroma [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients