loading...| Preferred Name |
Turner Syndrome |
|
| Synonyms |
Syndrome, Ullrich-Turner |
|
| Definitions |
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. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D014424 |
|
| altLabel |
Syndrome, Ullrich-Turner Gonadal Dysgenesis, XO Ullrich-Turner Syndrome Turner's Syndrome Monosomy X Status Bonnevie-Ullrich Gonadal Dysgenesis, 45,X Bonnevie-Ullrich Syndrome Turners Syndrome Bonnevie Ullrich Syndrome Ullrich Turner Syndrome XO Gonadal Dysgenesis Status Bonnevie Ullrich |
|
| AN |
in females; TURNER SYNDROME, MALE see NOONAN SYNDROME is also available |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0242526 C1527168 C0041408 |
|
| DC |
1 |
|
| definition |
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. 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. |
|
| DX |
20020101 |
|
| FX |
D009634 |
|
| HN |
2002(1963); for BONNEVIE-ULLRICH SYNDROME use SEX CHROMOSOME ABNORMALITIES 1963-2001 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
2002; see TURNER'S SYNDROME 1963-2001; for BONNEVIE-ULLRICH SYNDROME see SEX CHROMOSOME ABNORMALITIES 1997-2001, see BONNEVIE-ULLRICH SYNDROME 1963-1996 |
|
| Mapped from | ||
| MDA |
19990101 |
|
| MMR |
20210630 |
|
| MN |
C12.800.316.795.750 C16.131.260.830.835.750 C16.131.939.316.795.750 C19.391.119.795.750 C12.050.351.875.253.309.872 C14.280.400.980 C12.200.706.316.309.872 C16.131.240.400.970 C12.800.316.309.872 C16.131.939.316.309.872 C12.200.706.316.795.750 C16.320.180.830.835.750 C19.391.119.309.872 C12.050.351.875.253.795.750 C14.240.400.980 |
|
| notation |
D014424 |
|
| prefLabel |
Turner Syndrome |
|
| TERMUI |
T430012 T037622 T430011 T042191 T782700 T842626 T042193 T042192 |
|
| TH |
NLM (1997) NLM (2002) NLM (1966) NLM (2012) UNK (19XX) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D006059 |