Birt-Hogg-Dube Syndrome

Preferred Label : Birt-Hogg-Dube Syndrome;

NCIt definition : A rare genetic syndrome with an autosomal dominant pattern of inheritance. It is caused by a mutation in the FLCN gene which encodes the protein folliculin. Clinical signs include multiple benign growths of the skin and lungs that begin to manifest in the second or third decade of life. The clinical course is characterized by the progressive growth of new and existing neoplasms. In those with mutations in both copies of FLCN, the kidneys may also be affected by the growth of benign or malignant neoplasms.;

Alternative definition : NCI-GLOSS: An inherited condition in which benign tumors develop in hair follicles on the head, chest, back, and arms. People who have this disorder may be at increased risk of developing colon or kidney cancer.;

Codes from synonyms : CDR0000256547;

Details

Origin ID

C28244;

UMLS CUI

C0346010;

Automatic exact mappings (from CISMeF team)
- Birt-Hogg-Dubé syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Birt Hogg Dubé syndrome (disorder) [SNOMED CT concept]
- Birt-Hogg-Dube syndrome [DO Concept]
- Birt-Hogg-Dube syndrome [Disease (Nov.)]
- Birt-Hogg-Dube syndrome [MedDRA Preferred Term]
- Birt-Hogg-Dube syndrome [MeSH Descriptor]
- Birt-Hogg-Dube syndrome [MeSH concept]
- Birt-Hogg-Dubé syndrome [PASCAL descriptor]
- Birt-Hogg-Dubé syndrome [ORDO Disease]
- Birt-hogg-dube syndrome [OMIM Phenotype]
- Multiple fibrofolliculomas (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Birt Hogg Dubé syndrome (disorder) [SNOMED CT concept]
- Birt-Hogg-Dube syndrome [MeSH concept]
- Birt-Hogg-Dube syndrome [MeSH Descriptor]
- Birt-Hogg-Dube syndrome [DO Concept]
- Birt-Hogg-Dube syndrome [Disease (Nov.)]
- Birt-Hogg-Dube syndrome [MedDRA Preferred Term]
- Birt-Hogg-Dubé syndrome [ORDO Disease]
- Birt-hogg-dube syndrome [OMIM Phenotype]
- Familial multiple fibrofolliculoma (disorder) [SNOMED CT concept]
- Multiple fibrofolliculomas (disorder) [SNOMED CT concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP 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]
disease_has_associated_disease
- Chromophobe Renal Cell Carcinoma Associated with Birt-Hogg-Dube Syndrome [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- FLCN Gene Mutation [NCIt concept]
disease_mapped_to_gene
- FLCN Gene [NCIt concept]
disease_may_have_associated_disease
- Chromophobe Renal Cell Carcinoma [NCIt concept]
- Clear Cell Renal Cell Carcinoma [NCIt concept]
- Fibrofolliculoma [NCIt concept]
- Kidney Oncocytoma [NCIt concept]
- Type 1 Papillary Renal Cell Carcinoma [NCIt concept]
pathogenesis_of_disease_involves_gene
- FLCN Gene [NCIt concept]
- FLCN wt Allele [NCIt concept]
related_to_genetic_biomarker
- FLCN Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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