DISEASES Neoplasms [C04] Neoplasms Neoplastic Syndromes, Hereditary [C04.700] Neoplastic Syndromes, Hereditary Adenomatous Polyposis Coli [C04.700.100] Adenomatous Polyposis Coli Basal Cell Nevus Syndrome [C04.700.175] Basal Cell Nevus Syndrome Birt-Hogg-Dube Syndrome [C04.700.212] Birt-Hogg-Dube Syndrome Colorectal Neoplasms, Hereditary Nonpolyposis [C04.700.250] Colorectal Neoplasms, Hereditary Nonpolyposis Dysplastic Nevus Syndrome [C04.700.305] Dysplastic Nevus Syndrome Exostoses, Multiple Hereditary [C04.700.330] Exostoses, Multiple Hereditary Hamartoma Syndrome, Multiple [C04.700.435] Hamartoma Syndrome, Multiple Hereditary Breast and Ovarian Cancer Syndrome [C04.700.517] Hereditary Breast and Ovarian Cancer Syndrome Li-Fraumeni Syndrome [C04.700.600] Li-Fraumeni Syndrome Multiple Endocrine Neoplasia [C04.700.630] Multiple Endocrine Neoplasia Neurofibromatoses [C04.700.631] Neurofibromatoses Peutz-Jeghers Syndrome [C04.700.633] Peutz-Jeghers Syndrome Tuberous Sclerosis [C04.700.700] Tuberous Sclerosis Wilms Tumor [C04.700.900] Wilms Tumor DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Neoplastic Syndromes, Hereditary [C16.320.700] Neoplastic Syndromes, Hereditary Adenomatous Polyposis Coli [C16.320.700.100] Adenomatous Polyposis Coli Basal Cell Nevus Syndrome [C16.320.700.175] Basal Cell Nevus Syndrome Birt-Hogg-Dube Syndrome [C16.320.700.212] Birt-Hogg-Dube Syndrome Colorectal Neoplasms, Hereditary Nonpolyposis [C16.320.700.250] Colorectal Neoplasms, Hereditary Nonpolyposis Dysplastic Nevus Syndrome [C16.320.700.305] Dysplastic Nevus Syndrome Exostoses, Multiple Hereditary [C16.320.700.330] Exostoses, Multiple Hereditary Hamartoma Syndrome, Multiple [C16.320.700.435] Hamartoma Syndrome, Multiple Hereditary Breast and Ovarian Cancer Syndrome [C16.320.700.517] Hereditary Breast and Ovarian Cancer Syndrome Li-Fraumeni Syndrome [C16.320.700.600] Li-Fraumeni Syndrome Multiple Endocrine Neoplasia [C16.320.700.630] Multiple Endocrine Neoplasia Neurofibromatoses [C16.320.700.633] Neurofibromatoses Peutz-Jeghers Syndrome [C16.320.700.667] Peutz-Jeghers Syndrome Tuberous Sclerosis [C16.320.700.700] Tuberous Sclerosis Wilms Tumor [C16.320.700.900] Wilms Tumor

Birt-Hogg-Dube Syndrome - Conceito preferido

Identificador do conceito	M0541547
Nota de escopo	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).
Termo preferido	Birt-Hogg-Dube Syndrome
Termo(s) alternativo(s)	Birt Hogg Dube Syndrome Birt-Hogg-Dubé Syndrome Fibrofolliculomas with Trichodiscomas and Acrochordons Hornstein-Birt-Hogg-Dubé Syndrome Hornstein-Knickenberg Syndrome