ICD-11 code : LD50.0;
Preferred Label : Turner syndrome;
ICD-11 definition : Karyotype missing one X chromosome (45, X0 or 45,XO/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.;
ICD-11 synonym : XO syndrome; Ullrich-Turner syndrome; Monosomy X;
ICD-11 inclusion : Monosomy X;
Origin ID : 1987089698;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
ICD-10 Mapping
Validated automatic mappings to NTBT
Karyotype missing one X chromosome (45, X0 or 45,XO/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.