Pelizaeus-Merzbacher disease (Q40068): Difference between revisions

@@ description / pt-br / description / pt-br @@
+Doença de Pelizaeus-Merzbacher (PMD) é uma leucodistrofia ligada ao X, caracterizada por atraso no desenvolvimento, nistagmo, hipotonia, espasticidade e déficit intelectual variável. É classificada em três subformas com base na idade de início dos sintomas e gravidade: neonatal, de transição e clássica.
@@ description / en / description / en @@
+Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterised by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD.
@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/1313582105
@@ Property / Canonical URI: https://id.who.int/icd/entity/1313582105 / rank @@
+Normal rank
@@ Property / CURIE @@
+CID11:8A44.0
@@ Property / CURIE: CID11:8A44.0 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-8A44.0
@@ Property / Canary Token: dki-india-8A44.0 / 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 @@
+E75.2
@@ Property / Linked ICD 10: E75.2 / rank @@
+Normal rank

Latest revision as of 05:43, 13 August 2026

Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterised by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD.

Language	Label	Description	Also known as
default for all languages	8A44.0
English	Pelizaeus-Merzbacher disease	Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterised by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD.