Leukodystrophies (Q41164): Difference between revisions

@@ description / pt-br / description / pt-br @@
+Grupo de doenças genéticas progressivas raras causadas por mutações em genes que levam à destruição da substância branca do cérebro por interrupção do desenvolvimento da bainha de mielina. Mais de 50 leucodistrofias diferentes foram identificadas, incluindo doença de Alexander, doença de Canavan, xantomatose cerebrotendinosa, leucodistrofia metacromática, doença de Pelizaeus-Merzbacher e doença de Refsum.
@@ description / en / description / en @@
+Group of rare progressive genetic diseases that are caused by mutations in genes that lead to destruction of white matter of the brain by disrupting development of the myelin sheath. More than 50 different leukodystrophies have been identified, including Alexander disease, Canavan disease, cerebrotendinous xanthomatosis, metachromatic leukodystrophy, Pelizaeus-Merzbacher disease, and Refsum disease.
@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/468040251
@@ Property / Canonical URI: https://id.who.int/icd/entity/468040251 / rank @@
+Normal rank
@@ Property / CURIE @@
+CID11:8A44
@@ Property / CURIE: CID11:8A44 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-8A44
@@ Property / Canary Token: dki-india-8A44 / 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 @@
+G35-G37
@@ Property / Linked ICD 10: G35-G37 / rank @@
+Normal rank

Latest revision as of 07:13, 13 August 2026

Group of rare progressive genetic diseases that are caused by mutations in genes that lead to destruction of white matter of the brain by disrupting development of the myelin sheath. More than 50 different leukodystrophies have been identified, including Alexander disease, Canavan disease, cerebrotendinous xanthomatosis, metachromatic leukodystrophy, Pelizaeus-Merzbacher disease, and Refsum disease.

Language	Label	Description	Also known as
default for all languages	8A44
English	Leukodystrophies	Group of rare progressive genetic diseases that are caused by mutations in genes that lead to destruction of white matter of the brain by disrupting development of the myelin sheath. More than 50 different leukodystrophies have been identified, including Alexander disease, Canavan disease, cerebrotendinous xanthomatosis, metachromatic leukodystrophy, Pelizaeus-Merzbacher disease, and Refsum disease.