Adrenoleukodystrophy (Q41172): Difference between revisions

@@ description / pt-br / description / pt-br @@
+Distúrbio genético ligado ao X associado ao acúmulo de ácidos graxos de cadeia muito longa no cérebro e no córtex adrenal devido a uma mutação no gene ABCD1 que causa defeitos na oxidação peroxissômica. Os sintomas neurológicos podem se manifestar na infância ou na idade adulta, com quase todos os pacientes apresentando insuficiência adrenal concomitante.
@@ description / en / description / en @@
+X-linked genetic disorder associated with accumulation of very-long-chain fatty acids in the brain and adrenal cortex due to a mutation in the ABCD1 gene causing defects in peroxisomal oxidation. Neurological symptoms can present in childhood or adulthood with almost all patients having concurrent adrenal insufficiency.
@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/1085655586
@@ Property / Canonical URI: https://id.who.int/icd/entity/1085655586 / rank @@
+Normal rank
@@ Property / CURIE @@
+CID11:8A44.1
@@ Property / CURIE: CID11:8A44.1 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-8A44.1
@@ Property / Canary Token: dki-india-8A44.1 / 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

X-linked genetic disorder associated with accumulation of very-long-chain fatty acids in the brain and adrenal cortex due to a mutation in the ABCD1 gene causing defects in peroxisomal oxidation. Neurological symptoms can present in childhood or adulthood with almost all patients having concurrent adrenal insufficiency.

Language	Label	Description	Also known as
default for all languages	8A44.1
English	Adrenoleukodystrophy	X-linked genetic disorder associated with accumulation of very-long-chain fatty acids in the brain and adrenal cortex due to a mutation in the ABCD1 gene causing defects in peroxisomal oxidation. Neurological symptoms can present in childhood or adulthood with almost all patients having concurrent adrenal insufficiency.