Multiple familial trichoepithelioma

Preferred Label : Multiple familial trichoepithelioma;

ICD-11 definition : An autosomal dominant hamartoneoplastic condition due to heterozygous mutation in the CYLD gene on chromosome 16q12 and characterized clinically by the development of multiple trichoepitheliomata on the face.;

ICD-11 synonym : MFT1 [multiple familial trichoepithelioma]; Epithelioma adenoides cysticum; Brooke-Spiegler syndrome;

Details

Origin ID

480444747;

Automatic exact mappings (from CISMeF team)
- 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]
- Epithelioma adenoides cysticum [MedDRA Preferred Term]
- Familial multiple trichoepithelioma [ORDO Disease]
- Familial multiple trichoepitheliomata (disorder) [SNOMED CT concept]
- Trichoepithelioma (disorder) [SNOMED CT concept]
- Trichoepithelioma (morphologic abnormality) [SNOMED CT concept]
- Trichoepithelioma multiple familial [MeSH concept]
- Trichoepithelioma, multiple familial, 1 [OMIM Phenotype]
- familial cylindromatosis [MeSH Supplementary Concept]

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