Turner syndrome (Q46911): Difference between revisions
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Revision as of 15:48, 13 August 2026
Karyotype missing one X chromosome (45,X0 or 45,X0/46,XX mosaicism); gonads: ovaries (streak); phenotype female with short stature, amenorrhea (hypergonadotropic 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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD50.0 |
||
| English | Turner syndrome |
Karyotype missing one X chromosome (45,X0 or 45,X0/46,XX mosaicism); gonads: ovaries (streak); phenotype female with short stature, amenorrhea (hypergonadotropic 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. |
Statements
CID11:LD50.0
0 references
dki-india-LD50.0
0 references
