X-linked ichthyosis (Q46636): Difference between revisions

@@ description / pt-br / description / pt-br @@
+A ictiose ligada ao X é uma genodermatose recessiva ligada ao X associada à deficiência de esteróide sulfatase e ao sulfato de colesterol plasmático elevado. Descamação generalizada está presente no nascimento ou logo após o nascimento, mais proeminentemente nas extremidades, pescoço, tronco e nádegas. Ocorre apenas em homens e pode estar associada a doenças testiculares e opacidades da córnea.
@@ description / en / description / en @@
+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.
@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/1466487054
@@ Property / Canonical URI: https://id.who.int/icd/entity/1466487054 / rank @@
+Normal rank
@@ Property / CURIE @@
+CID11:EC20.01
@@ Property / CURIE: CID11:EC20.01 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-EC20.01
@@ Property / Canary Token: dki-india-EC20.01 / rank @@
+Normal rank
@@ Property / Verification Status @@
+Concluído
@@ Property / Verification Status: Concluído / rank @@
+Normal rank
@@ Property / Knowledge Architect @@
+https://pauloleads.com.br/cases-publicos/
+Normal rank
@@ Property / Collection date @@
+August 2026Timestamp +2026-08-13T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
-Timestamp
++2026-08-13T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / Collection date: 13 August 2026 / rank @@
+Normal rank
@@ Property / Linked ICD 10 @@
+ICD I249
@@ Property / Linked ICD 10: ICD I249 / rank @@
+Normal rank

Latest revision as of 15:21, 13 August 2026

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.

Language	Label	Description	Also known as
default for all languages	EC20.01
English	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.