Počet záznamov: 1
poruchy močovinového cyklu, vrodené
Č. záznamu d056806 Dátum 06.06.2025 Typ M - MESH Tematický termín poruchy močovinového cyklu, vrodené Iný termín Angličtina (Pseudonym) Inborn Urea Cycle Disorder
Angličtina (Pseudonym) Urea Cycle Disorders
Slovenčina (Pseudonym) poruchy cyklu kyseliny močovej, vrodené
Slovenčina (Pseudonym) poruchy močovinového cyklu
Slovenčina (Pseudonym) porucha močovinového cyklu, vrodená
MDT C10.228.140.163.100.937C16.320.565.100.940C16.320.565.189.937C18.452.132.100.937C18.452.648.100.940C18.452.648.189.937 Poznámka Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA. 
predmetové heslo
Počet záznamov: 1