ICD-11 classes
20 Developmental anomalies
Chromosomal anomalies, excluding gene mutations
Sex chromosome anomalies
LD50 — Number anomalies of chromosome X
LD50.2 — Mosaicism, lines with various numbers of X chromosomes

ICD-11 LD50.2 — Mosaicism, lines with various numbers of X chromosomes

A disease caused by embryonic fusion or gain or loss of X chromosomes early in embryonic development, resulting in a subset of cells in the body having an abnormal number of X chromosomes. This disease may present with abnormal height, genitourinary abnormalities, or may be asymptomatic.

The diagnosis includes nothing.

The diagnosis excludes nothing.

It has no clarifying diagnoses.

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