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

ICD-11 LD50.0 — Turner syndrome

Karyotype missing one X chromosome (45, X0 or 45,X0/46,XX mosaicism) ; gonads: ovaries (streak); phenotype female with short stature, amenorrhea (hypergonadotrophic 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.

Diagnosis with code LD50.0 contains 5 clarifying diagnoses:

1. LD50.00 — Karyotype 45, X
2. LD50.01 — Karyotype 46, X iso Xq
3. LD50.02 — Karyotype 46, X with abnormal sex chromosome, except iso Xq
4. LD50.03 — Mosaicism, 45, X, 46, XX or XY
5. LD50.04 — Mosaicism, 45, X or other cell line with abnormal sex chromosome

The diagnosis is coded elsewhere:

• Chromosomal disorders affecting the skin #16044