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Descriptor English: Turner Syndrome
Descriptor Spanish: Síndrome de Turner
Descriptor Portuguese: Síndrome de Turner
Descriptor French: Syndrome de Turner
Entry term(s): Bonnevie Ullrich Syndrome
Bonnevie-Ullrich Syndrome
Gonadal Dysgenesis, 45,X
Gonadal Dysgenesis, XO
Monosomy X
Status Bonnevie Ullrich
Status Bonnevie-Ullrich
Syndrome, Ullrich-Turner
Turner's Syndrome
Turners Syndrome
Ullrich Turner Syndrome
Ullrich-Turner Syndrome
XO Gonadal Dysgenesis
Tree number(s): C12.706.316.309.872
C12.706.316.795.750
C13.351.875.253.309.872
C13.351.875.253.795.750
C14.240.400.980
C14.280.400.980
C16.131.240.400.970
C16.131.260.830.835.750
C16.131.939.316.309.872
C16.131.939.316.795.750
C16.320.180.830.835.750
C19.391.119.309.872
C19.391.119.795.750
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D014424
Scope note: 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.
Annotation: in females; TURNER SYNDROME, MALE see NOONAN SYNDROME is also available
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Public MeSH Note: 2002; see TURNER'S SYNDROME 1963-2001; for BONNEVIE-ULLRICH SYNDROME see SEX CHROMOSOME ABNORMALITIES 1997-2001, see BONNEVIE-ULLRICH SYNDROME 1963-1996
History Note: 2002(1963); for BONNEVIE-ULLRICH SYNDROME use SEX CHROMOSOME ABNORMALITIES 1963-2001
Related: Noonan Syndrome MeSH
DeCS ID: 14823
Unique ID: D014424
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2002/01/01
Date of Entry: 1999/01/01
Revision Date: 2013/07/08
Turner Syndrome - Preferred
Concept UI M0022170
Scope note 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.
Preferred term Turner Syndrome
Entry term(s) Syndrome, Ullrich-Turner
Turner's Syndrome
Turners Syndrome
Ullrich Turner Syndrome
Ullrich-Turner Syndrome
Gonadal Dysgenesis, 45,X - Related but not broader or narrower
Concept UI M0022171
Preferred term Gonadal Dysgenesis, 45,X
Entry term(s) Gonadal Dysgenesis, XO
Monosomy X
XO Gonadal Dysgenesis
Bonnevie-Ullrich Syndrome - Related but not broader or narrower
Concept UI M0019729
Scope note This syndrome that was originally observed by Ullrich, and designated as identical to TURNER SYNDROME, related the webbing of the neck, loose skin and other anomalies of the syndrome to accumulation of fluid in the embryo starting at the head and dispersing to the extremities (as observed by Bonnevie in mice). Commonly observed at birth in Turner Syndrome and NOONAN SYNDROME; EDEMA of the extremities usually recedes by one year and is an early sign of Turner syndrome, especially in female neonates.
Preferred term Bonnevie-Ullrich Syndrome
Entry term(s) Bonnevie Ullrich Syndrome
Status Bonnevie Ullrich
Status Bonnevie-Ullrich



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