Congenital bile acid synthesis defect type 3 (Q90075): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed label, description and/or aliases in pt-br, en |
Changed an Item |
||
| Property / Canonical URI | |||
| Property / Canonical URI: https://id.who.int/icd/entity/2022512995 / rank | |||
Normal rank | |||
Revision as of 17:01, 15 August 2026
Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterised by severe neonatal cholestatic liver disease. It presents with severe progressive cholestasis, hepatosplenomegaly, coagulopathy, cirrhosis and liver synthetic failure from early infancy.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_2022512995 |
||
| English | Congenital bile acid synthesis defect type 3 |
Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterised by severe neonatal cholestatic liver disease. It presents with severe progressive cholestasis, hepatosplenomegaly, coagulopathy, cirrhosis and liver synthetic failure from early infancy. |
