| congenitaal defect in glycosylering gerelateerd aan transmembraaneiwit 199 (aandoening) | | congenitaal defect in glycosylering gerelateerd aan transmembraaneiwit 199 | | congenitaal defect in glycosylering type 2p
TMEM199-CDG
| | TMEM199 congenital disorder of glycosylation | | CDG (congenital disorder of glycosylation) syndrome type IIp
Carbohydrate deficient glycoprotein syndrome type IIp
TMEM199-CDG - transmembrane protein 199 congenital disorder of glycosylation
Transmembrane protein 199 congenital disorder of glycosylation
Congenital disorder of glycosylation type IIp
| | A rare congenital disorder of glycosylation characterized by chronic non-progressive liver disease, manifesting as mild steatosis with elevated serum transaminases and alkaline phosphatase, hypercholesterolemia and decreased coagulation factors and ceruloplasmin. Transferrin glycosylation pattern is consistent with a type 2 congenital disorder of glycosylation. Liver biopsy may show mild non-progressive fibrosis. Patients usually remain asymptomatic, although delayed psychomotor development and hypotonia have been reported in single cases. |
| | Id | 1208738002 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 466703 |
| SNOMED CT to ICD-10 extended map | | Target | E77.8 | | Rule | TRUE | | Advice | ALWAYS E77.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
