ICD-11 classes
20 Developmental anomalies
Chromosomal anomalies, excluding gene mutations
Sex chromosome anomalies
LD50 — Number anomalies of chromosome X
LD50.1 — Karyotype 47,XXX

ICD-11 LD50.1 — Karyotype 47,XXX

Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). Most individuals are only mildly affected or asymptomatic, the most common physical features including tall stature, epicanthal folds, hypotonia and clinodactyly, with seizures, renal and genitourinary abnormalities, and premature ovarian failure being also associated findings.

The diagnosis includes nothing.

The diagnosis excludes nothing.

It has no clarifying diagnoses.