ICD-11 classes
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C52 — Inborn errors of lipid metabolism
5C52.1 — Inborn errors of sterol metabolism
EC20.01 — X-linked ichthyosis
ICD-11 EC20.01 — X-linked ichthyosis
X-linked ichthyosis is an X-linked recessive genodermatosis associated with steroid sulfatase deficiency and elevated plasma cholesterol sulfate. generalised 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.
The diagnosis includes nothing.
The diagnosis excludes nothing.
It has no clarifying diagnoses.
The diagnosis is coded elsewhere:
- Hereditary corneal dystrophies #9419
- Non-syndromic ichthyosis #15952
- Non-syndromic ichthyosis #16212
- Non-syndromic ichthyosis #23355