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| Descriptor English: | Turner Syndrome | ||||||
| Descriptor Spanish: |
Síndrome de Turner
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| 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 |
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| Tree number(s): |
C12.050.351.875.253.309.872 C12.050.351.875.253.795.750 C12.200.706.316.309.872 C12.200.706.316.795.750 C12.800.316.309.872 C12.800.316.795.750 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 |
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| 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. |
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| Annotation: | in females; TURNER SYNDROME, MALE see NOONAN SYNDROME is also available |
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| 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 |
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| 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 |
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| History Note: | 2002(1963); for BONNEVIE-ULLRICH SYNDROME use SEX CHROMOSOME ABNORMALITIES 1963-2001 |
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| Related: |
Noonan Syndrome
MeSH | ||||||
| DeCS ID: | 14823 | ||||||
| Unique ID: | D014424 | ||||||
| NLM Classification: | QS 677 | ||||||
| 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 |
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Turner Syndrome
- Preferred
Gonadal Dysgenesis, 45,X
- Related but not broader or narrower
Bonnevie-Ullrich Syndrome
- Related but not broader or narrower
| 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 |
| Concept UI |
M0022171 |
| Preferred term | Gonadal Dysgenesis, 45,X |
| Entry term(s) |
Gonadal Dysgenesis, XO Monosomy X XO Gonadal Dysgenesis |
| 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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