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

• Noonan syndrome  (LD2F.15)

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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