Preferred Label : CMP-sialic acid transporter deficiency;
ICD-11 definition : Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form
of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic
incidents, including severe pulmonary hemorrhage.;
ICD-11 synonym : Congenital disorder of glycosylation type 2F; Carbohydrate deficient glycoprotein syndrome type 2F; CDG - [Congenital disorder of glycosylation] syndrome type 2F; CDG syndrome type 2F;
Origin ID : 480474610;
Currated CISMeF NLP mapping
Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form
of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic
incidents, including severe pulmonary hemorrhage.
