Chapter 17 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)»Chromosomal abnormalities, not elsewhere classified (Q90-Q99)»Turner's syndrome (Q96)
Q96
Turner's syndrome
Sub-codes (7)
- 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
Related indications (MeSH) (1)
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.