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 Digestive System Diseases [C06] Digestive System Diseases Gastrointestinal Diseases [C06.405] Gastrointestinal Diseases Intestinal Diseases [C06.405.469] Intestinal Diseases Intestinal Polyposis [C06.405.469.578] Intestinal Polyposis Adenomatous Polyposis Coli [C06.405.469.578.249] Adenomatous Polyposis Coli Peutz-Jeghers Syndrome [C06.405.469.578.750] Peutz-Jeghers Syndrome 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 DISEASES Skin and Connective Tissue Diseases [C17] Skin and Connective Tissue Diseases Skin Diseases [C17.800] Skin Diseases Pigmentation Disorders [C17.800.621] Pigmentation Disorders Hyperpigmentation [C17.800.621.430] Hyperpigmentation Melanosis [C17.800.621.430.530] Melanosis Lentigo [C17.800.621.430.530.550] Lentigo LEOPARD Syndrome [C17.800.621.430.530.550.525] LEOPARD Syndrome Peutz-Jeghers Syndrome [C17.800.621.430.530.550.625] Peutz-Jeghers Syndrome

Peutz-Jeghers Syndrome - Preferred

Concept UI	M0016441
Scope note	A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.
Preferred term	Peutz-Jeghers Syndrome
Entry term(s)	Hamartomatous Intestinal Polyposes Hamartomatous Intestinal Polyposis Intestinal Polyposes, Hamartomatous Intestinal Polyposis, Hamartomatous Lentiginoses, Perioral Lentiginosis, Perioral Perioral Lentiginoses Perioral Lentiginosis Periorificial Lentiginosis Syndrome Periorificial Lentiginosis Syndromes Peutz Jegher's Syndrome Peutz Jeghers Polyposis Peutz Jeghers Syndrome Peutz-Jegher Syndrome Peutz-Jegher's Syndrome Peutz-Jeghers Polyposis Polyposes, Hamartomatous Intestinal Polyposis, Hamartomatous Intestinal Polyposis, Peutz-Jeghers Polyps and Spots Syndrome Polyps-and-Spots Syndrome Polyps-and-Spots Syndromes Syndrome, Periorificial Lentiginosis Syndrome, Peutz-Jegher's Syndrome, Peutz-Jeghers Syndrome, Polyps-and-Spots Syndromes, Periorificial Lentiginosis Syndromes, Polyps-and-Spots