Carnosinaemia (Q39999): Difference between revisions

@@ description / pt-br / description / pt-br @@
+A carnosinemia é uma doença hereditária muito rara do metabolismo de peptídeos que se apresenta com deficiência de carnosinase sérica, graus variáveis de deficiência intelectual, às vezes com convulsões, enquanto alguns pacientes são assintomáticos.
@@ description / en / description / en @@
+Carnosinaemia is a very rare inherited disorder of the metabolism of peptides that presents with serum carnosinase deficiency, variable degrees of intellectual deficit, sometimes with seizures, while a few patients are asymptomatic.
@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/486093841
@@ Property / Canonical URI: https://id.who.int/icd/entity/486093841 / rank @@
+Normal rank
@@ Property / CURIE @@
+CID11:5C50.F1
@@ Property / CURIE: CID11:5C50.F1 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-5C50.F1
@@ Property / Canary Token: dki-india-5C50.F1 / 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 @@
+E70.8
@@ Property / Linked ICD 10: E70.8 / rank @@
+Normal rank

Latest revision as of 05:38, 13 August 2026

Carnosinaemia is a very rare inherited disorder of the metabolism of peptides that presents with serum carnosinase deficiency, variable degrees of intellectual deficit, sometimes with seizures, while a few patients are asymptomatic.

Language	Label	Description	Also known as
default for all languages	5C50.F1
English	Carnosinaemia	Carnosinaemia is a very rare inherited disorder of the metabolism of peptides that presents with serum carnosinase deficiency, variable degrees of intellectual deficit, sometimes with seizures, while a few patients are asymptomatic.