loading...| Preferred Name |
Turner Syndrome |
| Definitions |
<p>Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete X chromosome. Girls who have it are short, and their ovaries don't work properly.</p> <p>Other physical features typical of Turner syndrome are:</p><ul> <li> Short, "webbed" neck with folds of skin from tops of shoulders to sides of neck</li> <li> Low hairline in the back</li> <li> Low-set ears</li> <li> Swollen hands and feet</li> </ul> <p>Most women with Turner syndrome are <a href="https://medlineplus.gov/femaleinfertility.html">infertile</a>. They are at risk for health difficulties such as high blood pressure, kidney problems, diabetes, cataracts, osteoporosis, and thyroid problems.</p> <p>Doctors diagnose Turner syndrome based on symptoms and a genetic test. Sometimes it is found in prenatal testing. There is no cure for Turner syndrome, but there are some treatments for the symptoms. Growth hormone often helps girls reach heights that are close to average. Hormone replacement can help start sexual development. Assisted reproduction techniques can help some women with Turner syndrome get pregnant.</p> <p class="">NIH: National Institute of Child Health and Human Development</p> |
| ID |
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0041408 |
| cui |
C0041408 |
| Date created |
06/28/2001 |
| definition |
Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete X chromosome. Girls who have it are short, and their ovaries don't work properly. Other physical features typical of Turner syndrome are:
Most women with Turner syndrome are infertile. They are at risk for health difficulties such as high blood pressure, kidney problems, diabetes, cataracts, osteoporosis, and thyroid problems. Doctors diagnose Turner syndrome based on symptoms and a genetic test. Sometimes it is found in prenatal testing. There is no cure for Turner syndrome, but there are some treatments for the symptoms. Growth hormone often helps girls reach heights that are close to average. Hormone replacement can help start sexual development. Assisted reproduction techniques can help some women with Turner syndrome get pregnant. NIH: National Institute of Child Health and Human Development |
| Mapped from | |
| Mapped to | |
| MP OTHER LANGUAGE URL | |
| MP PRIMARY INSTITUTE URL |
Eunice Kennedy Shriver National Institute of Child Health and Human Development https://www.nichd.nih.gov/Pages/index.aspx |
| notation |
C0041408 |
| prefLabel |
Turner Syndrome |
| Related to | |
| Scope Statement |
Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete X chromosome. Learn more.https://medlineplus.gov/turnersyndrome.html |
| tui |
T047 |
| subClassOf |