serw-MX  [xml]  

 DeCS Categories

C05 Musculoskeletal Diseases .
C05.550 Joint Diseases .
C05.550.629 Nail-Patella Syndrome .
C05.660 Musculoskeletal Abnormalities .
C05.660.207 Craniofacial Abnormalities .
C05.660.207.690 Noonan Syndrome .
C12 Male Urogenital Diseases .
C12.706 Urogenital Abnormalities .
C12.706.316 Disorders of Sex Development .
C12.706.316.309 Gonadal Dysgenesis .
C12.706.316.309.872 Turner Syndrome .
C12.706.316.795 Sex Chromosome Disorders of Sex Development .
C12.706.316.795.750 Turner Syndrome .
C13 Female Urogenital Diseases and Pregnancy Complications .
C13.351 Female Urogenital Diseases .
C13.351.875 Urogenital Abnormalities .
C13.351.875.253 Disorders of Sex Development .
C13.351.875.253.309 Gonadal Dysgenesis .
C13.351.875.253.309.872 Turner Syndrome .
C13.351.875.253.795 Sex Chromosome Disorders of Sex Development .
C13.351.875.253.795.750 Turner Syndrome .
C14 Cardiovascular Diseases .
C14.240 Cardiovascular Abnormalities .
C14.240.400 Heart Defects, Congenital .
C14.240.400.787 Noonan Syndrome .
C14.240.400.980 Turner Syndrome .
C14.280 Heart Diseases .
C14.280.400 Heart Defects, Congenital .
C14.280.400.787 Noonan Syndrome .
C14.280.400.980 Turner Syndrome .
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.131 Congenital Abnormalities .
C16.131.077 Abnormalities, Multiple .
C16.131.077.606 Nail-Patella Syndrome .
C16.131.240 Cardiovascular Abnormalities .
C16.131.240.400 Heart Defects, Congenital .
C16.131.240.400.784 Noonan Syndrome .
C16.131.240.400.970 Turner Syndrome .
C16.131.260 Chromosome Disorders .
C16.131.260.830 Sex Chromosome Disorders .
C16.131.260.830.835 Sex Chromosome Disorders of Sex Development .
C16.131.260.830.835.750 Turner Syndrome .
C16.131.621 Musculoskeletal Abnormalities .
C16.131.621.207 Craniofacial Abnormalities .
C16.131.621.207.690 Noonan Syndrome .
C16.131.939 Urogenital Abnormalities .
C16.131.939.316 Disorders of Sex Development .
C16.131.939.316.309 Gonadal Dysgenesis .
C16.131.939.316.309.872 Turner Syndrome .
C16.131.939.316.795 Sex Chromosome Disorders of Sex Development .
C16.131.939.316.795.750 Turner Syndrome .
C16.320 Genetic Diseases, Inborn .
C16.320.180 Chromosome Disorders .
C16.320.180.830 Sex Chromosome Disorders .
C16.320.180.830.835 Sex Chromosome Disorders of Sex Development .
C16.320.180.830.835.750 Turner Syndrome .
C16.320.600 Nail-Patella Syndrome .
C17 Skin and Connective Tissue Diseases .
C17.300 Connective Tissue Diseases .
C17.300.690 Noonan Syndrome .
C17.800 Skin Diseases .
C17.800.529 Nail Diseases .
C17.800.529.400 Nail-Patella Syndrome .
C19 Endocrine System Diseases .
C19.391 Gonadal Disorders .
C19.391.119 Disorders of Sex Development .
C19.391.119.309 Gonadal Dysgenesis .
C19.391.119.309.872 Turner Syndrome .
C19.391.119.795 Sex Chromosome Disorders of Sex Development .
C19.391.119.795.750 Turner Syndrome .
 Synonyms & Historicals
Nail-Patella Syndrome .
Fong Disease .
Hereditary Onycho-Osteodysplasia .
Hereditary Osteo-Onychodysplasias .
Onychoosteodysplasia .
Disease, Fong .
Hereditary Osteo-Onychodysplasia .
Nail Patella Syndrome .
Osteo Onychodysplasia, Hereditary .
Osteo-Onychodysplasias, Hereditary .
Syndrome, Nail-Patella .
Syndrome, Osterreicher .
Syndrome, Pelvic Horn .
Syndrome, Turner-Kieser .
Turner Kieser Syndrome .
Osteo-Onychodysplasia, Hereditary .
Osterreicher Syndrome .
Pelvic Horn Syndrome .
Turner-Kieser Syndrome .
A syndrome of multiple abnormalities characterized by the absence or hypoplasia of the PATELLA and congenital nail dystrophy. It is a genetically determined autosomal dominant trait. .
Turner Syndrome .
Monosomy X .
Status Bonnevie-Ullrich .
Turner's Syndrome .
Ullrich-Turner Syndrome .
Bonnevie Ullrich Syndrome .
Status Bonnevie Ullrich .
Syndrome, Ullrich-Turner .
Turners Syndrome .
Ullrich Turner Syndrome .
XO Gonadal Dysgenesis .
Bonnevie-Ullrich Syndrome .
Gonadal Dysgenesis, 45,X .
Gonadal Dysgenesis, XO .
A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant. .
Noonan Syndrome .
Familial Turner Syndrome .
Female Pseudo-Turner Syndrome .
Noonan Syndrome 1 .
Noonan-Ehmke Syndrome .
Pseudo-Ullrich-Turner Syndrome .
Turner Phenotype with Normal Karyotype .
Turner's Phenotype, Karyotype Normal .
Turner's Syndrome, Male .
Turner-Like Syndrome .
Ullrich-Noonan Syndrome .
Female Pseudo Turner Syndrome .
Male Turner's Syndrome .
Noonan Ehmke Syndrome .
Pseudo Ullrich Turner Syndrome .
Pseudo-Turner Syndrome, Female .
Syndrome, Familial Turner .
Syndrome, Female Pseudo-Turner .
Syndrome, Male Turner .
Syndrome, Male Turner's .
Syndrome, Noonan .
Syndrome, Noonan-Ehmke .
Syndrome, Pseudo-Ullrich-Turner .
Syndrome, Turner-Like .
Syndrome, Ullrich-Noonan .
Turner Like Syndrome .
Turner Syndrome, Familial .
Ullrich Noonan Syndrome .
Turner Syndrome, Male .
Male Turner Syndrome .
A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1. .