" /> X-linked ichthyosis - CISMeF





ICD-11 code : EC20.01;

Preferred Label : X-linked ichthyosis;

ICD-11 definition : X-linked ichthyosis is an X-linked recessive genodermatosis associated with steroid sulfatase deficiency and elevated plasma cholesterol sulfate. Generalized scaling is present at or shortly after birth, most prominently over the extremities, neck, trunk, and buttocks. It occurs only in males and may be associated with testicular disease and corneal opacities.;

ICD-11 synonym : Sex-linked ichthyosis; X-linked ichthyosis with steryl-sulfatase deficiency; X-linked recessive ichthyosis;

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X-linked ichthyosis is an X-linked recessive genodermatosis associated with steroid sulfatase deficiency and elevated plasma cholesterol sulfate. Generalized scaling is present at or shortly after birth, most prominently over the extremities, neck, trunk, and buttocks. It occurs only in males and may be associated with testicular disease and corneal opacities.

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01/05/2025


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