ICD-11 classes
20 Developmental anomalies
Chromosomal anomalies, excluding gene mutations
Sex chromosome anomalies
LD50 — Number anomalies of chromosome X
LD50.0 — Turner syndrome
LD50.00 — Karyotype 45, X

ICD-11 LD50.00 — Karyotype 45, X

A disease affecting females, caused by absence of one of the two X chromosomes. This disease may present with short stature, extra folds of skin on the neck, a low hairline at the back of the neck, puffiness or swelling of the hands and feet, skeletal abnormalities, ovarian hypofunction or premature ovarian failure, kidney problems, or heart defects. Confirmation is through observation of only one X chromosome by karyotyping.

The diagnosis includes nothing.

The diagnosis excludes nothing.

It has no clarifying diagnoses.

The diagnosis is coded elsewhere:

• Turner syndrome #16051