Congenital malformations, deformations and chromosomal abnormalities
Chromosomal abnormalities, not elsewhere classified
Turner's syndrome Q96
Turner's syndrome Q96-
Type 1 Excludes
Type 1 Excludes Help
A type 1 excludes note is a pure excludes. It means "not coded here". A type 1 excludes note indicates that the code excluded should never be used at the same time as Q96. A type 1 excludes note is for used for when two conditions cannot occur together, such as a congenital form versus an acquired form of the same condition.
- A gonadal dysgenesis syndrome occurring in phenotypic females, characterized by the absence of a part or all of one of the sex chromosomes. Signs and symptoms include short stature, webbing of neck, low-set ears, hypogonadism, and sterility.
- A gonadal dysgenesis syndrome occurring in phenotypic females, characterized by the complete absence of one of the sex chromosomes. Signs and symptoms include short stature and hypogonadism.
- A syndrome in which the affected patients have only 45 chromosomes, the loss of one of the x chromosomes producing an xo chromosome constitution. The syndrome occurs in 1/2500 female births and nearly 99% of xo fetuses are aborted. Gonadal agenesis and short stature are the main features in the surviving infants. Associated anomalies may included webbed neck, cubitus valgus, shield chest, short stature, lymphedema, coarctation of the aorta, pigmented nevi, and various renal, skeletal, dermatologic, neoplastic, and autoimmune complications. Mental retardation is attributed to ring chromosome x. The phenotype varies and not all abnormalities occur in all patients.
- 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.
- Genetic disease that produces sterile females due to monosomy for x chromosome; the ovaries are rudimentary or missing; other abnormalities include short stature, webbed neck, and a broad chest with widely spaced nipples.
- Genetic disease that produces sterile females due to the x chromosome defect
- 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. Most are infertile. They are at risk for health difficulties such as high blood pressure, kidney problems, diabetes, cataracts, osteoporosis and thyroid problems.other physical features typical of turner syndrome are
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 stimulate sexual development. Assisted reproduction techniques can help some women with turner syndrome get pregnant. nih: national institute of child health and human development
- short, "webbed" neck with folds of skin from tops of shoulders to sides of neck
- low hairline in the back
- low-set ears
- swollen hands and feet
- Q96 Turner's syndrome
- Q96.0 Karyotype 45, X
- Q96.1 Karyotype 46, X iso (Xq)
- Q96.2 Karyotype 46, X with abnormal sex chromosome, except iso (Xq)
- Q96.3 Mosaicism, 45, X/46, XX or XY
- Q96.4 Mosaicism, 45, X/other cell line(s) with abnormal sex chromosome
- Q96.8 Other variants of Turner's syndrome
- Q96.9 Turner's syndrome, unspecified