Turner syndrome

Orpha code: 881OMIM code:

Definition

A rare chromosomal anomaly syndrome characterized by complete or partial loss of an X chromosome in phenotypic females, clinically manifesting with short stature, primary ovarian insufficiency as well as cardiovascular, renal, liver, autoimmune diseases, hearing loss and neurocognitive abnormalities.

Disease data
Classification

Malformation syndrome

Synonyms
45,X syndrome
Zespół 45,X
Zespół 45,X/46,XX
45,X/46,XX syndrome
ORPHA code
881
OMIM code
-
ICD10 code
Q96.4
ICD11 code
LD50.0

No additional description.

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