Birt-Hogg-Dube syndrome

Preferred Label : Birt-Hogg-Dube syndrome;

MeSH definition : Autosomal dominant neoplastic syndrome characterised by genodermatosis, lung cysts, spontaneous and recurrent PNEUMOTHORAX; and RENAL CANCER. It is associated with mutations in the folliculin protein gene (FLCN protein).;

MeSH synonym : fibrofolliculomas with trichodiscomas and acrochordons; birt hogg dube syndrome; Hornstein-Knickenberg syndrome; Hornstein-Birt-Hogg-Dubé syndrome; Birt-Hogg-Dubé syndrome;

CISMeF synonym : Birt-Hogg-Dube; Birt Hogg Dube; Birt-Hogg-Dube's syndrome;

DeCS synonym : Birt-Hogg-Dub Syndrome; Hornstein-Birt-Hogg-Dub Syndrome;

Details

Origin ID

D058249;

UMLS CUI

C0346010;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
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 [NCIt concept]
- Birt-Hogg-Dube syndrome [DO Concept]
- Birt-Hogg-Dube syndrome [Disease (Nov.)]
- Birt-Hogg-Dube syndrome [MedDRA Preferred Term]
- Birt-Hogg-Dubé syndrome [PASCAL descriptor]
- Birt-Hogg-Dubé syndrome [ORDO Disease]
- Birt-hogg-dube syndrome [OMIM Phenotype]
- Multiple fibrofolliculomas (disorder) [SNOMED CT concept]
DO Cross reference
- Birt-Hogg-Dube syndrome [DO Concept]
Indexing information
- FLCN protein, human [MeSH Supplementary Concept]
ORDO relation(s)
- Birt-Hogg-Dubé syndrome [ORDO Disease]
Record concept(s)
- Birt-Hogg-Dube syndrome [MeSH 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 [NCIt concept]
- Birt-Hogg-Dube syndrome [MedDRA Preferred Term]
- Birt-Hogg-Dube syndrome [DO Concept]
- Birt-Hogg-Dube syndrome [Disease (Nov.)]
- 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]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients