Argininaemia (Q40017): Difference between revisions

@@ description / pt-br / description / pt-br @@
+A deficiência de arginase é um distúrbio autossômico recessivo raro do metabolismo de aminoácidos, caracterizado clinicamente por graus variáveis de hiperamonemia, que se desenvolve a partir dos 3 anos de idade e leva à perda progressiva dos marcos do desenvolvimento e espasticidade, na ausência de tratamento.
@@ description / en / description / en @@
+Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterised clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.
@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/1619102598
@@ Property / Canonical URI: https://id.who.int/icd/entity/1619102598 / rank @@
+Normal rank
@@ Property / CURIE @@
+CID11:5C50.A2
@@ Property / CURIE: CID11:5C50.A2 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-5C50.A2
@@ Property / Canary Token: dki-india-5C50.A2 / 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 @@
+E72.2
@@ Property / Linked ICD 10: E72.2 / rank @@
+Normal rank

Latest revision as of 05:39, 13 August 2026

Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterised clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.

Language	Label	Description	Also known as
default for all languages	5C50.A2
English	Argininaemia	Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterised clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.