Tuberous sclerosis (Q46688): Difference between revisions

@@ description / pt-br / description / pt-br @@
+Doença causada por uma mutação dominante de 9q34 (TSC1) ou 16p13 (TSC2). Esta doença pode se manifestar com angiofibromas faciais, tumores de Koenen, placas fibrosas na testa e couro cabeludo, angiomiolipomas renais, nódulos subependimários, múltiplos tubérculos corticais ou hamartoma retinal, epilepsia ou atraso mental.
@@ description / en / description / en @@
+A disease caused by a dominant mutation of 9q34 (TSC1) or 16p13 (TSC2). This disease may present with facial angiofibromas, Koenen tumours, fibrous plaques on the forehead and scalp, renal angiomyolipomas, subependymal nodules, multiple cortical tubers or retinal hamartoma, epilepsy, or mental retardation.
@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/1903085809
@@ Property / Canonical URI: https://id.who.int/icd/entity/1903085809 / rank @@
+Normal rank
@@ Property / CURIE @@
+CID11:LD2D.2
@@ Property / CURIE: CID11:LD2D.2 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-LD2D.2
@@ Property / Canary Token: dki-india-LD2D.2 / 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 @@
+RONALDO PADOVANI
@@ Property / Linked ICD 10: RONALDO PADOVANI / rank @@
+Normal rank

Latest revision as of 15:27, 13 August 2026

A disease caused by a dominant mutation of 9q34 (TSC1) or 16p13 (TSC2). This disease may present with facial angiofibromas, Koenen tumours, fibrous plaques on the forehead and scalp, renal angiomyolipomas, subependymal nodules, multiple cortical tubers or retinal hamartoma, epilepsy, or mental retardation.

Language	Label	Description	Also known as
default for all languages	LD2D.2
English	Tuberous sclerosis	A disease caused by a dominant mutation of 9q34 (TSC1) or 16p13 (TSC2). This disease may present with facial angiofibromas, Koenen tumours, fibrous plaques on the forehead and scalp, renal angiomyolipomas, subependymal nodules, multiple cortical tubers or retinal hamartoma, epilepsy, or mental retardation.