Preferred Label : SRD5A3 congenital disorder of glycosylation;
ICD-11 definition : This refers to SRD5A3 congenital disorder of the reaction in which a carbohydrate,
i.e. a glycosyl donor, is attached to a hydroxyl or other functional group of another
molecule (a glycosyl acceptor).;
ICD-11 synonym : Kahrizi syndrome; Intellectual deficit - cataract - coloboma - kyphosis; Intellectual deficit, Kahrizi type; Congenital disorder of glycosylation due to steroid 5-alpha-reductase type 3 deficiency; SRD5A3-CDG;
Origin ID : 2080284881;
Automatic exact mappings (from CISMeF team)
This refers to SRD5A3 congenital disorder of the reaction in which a carbohydrate,
i.e. a glycosyl donor, is attached to a hydroxyl or other functional group of another
molecule (a glycosyl acceptor).
