LD50.0 Turner syndrome
International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01
Karyotype missing one X chromosome (45,X0 or 45,X0/46,XX mosaicism); gonads: ovaries (streak); phenotype female with short stature, amenorrhea (hypergonadotropic hypogonadism), absence of sexual development, webbed neck, low set ears, posterior hairline, widely-spaced nipples, short fourth metacarpals, and increased carrying angle at the elbow (cubitus valgus). Often associated with renal, cardiac and ocular abnormalities.
inclusions
- Monosomy X
exclusions
sections/codes in this section (LD50.0-LD50.0)
- Karyotype 45, X (LD50.00)
- Karyotype 46, X iso Xq (LD50.01)
- Karyotype 46, X with abnormal sex chromosome, except iso Xq (LD50.02)
- Mosaicism, 45, X, 46, XX or XY (LD50.03)
- Mosaicism, 45, X or other cell line with abnormal sex chromosome (LD50.04)
synonyms
- Turner syndrome
- Monosomy X
- Ullrich-Turner syndrome
- X0 syndrome
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