Carbohydrate-deficient glycoprotein syndrome type I (disorder)
| Code | 277893002 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | primitive |
| Effective time | 20020131 |
238049009Carbohydrate-deficient glycoprotein syndrome
disorder
720941007ALG1 congenital disorder of glycosylation
disorder
711155008ALG12-congenital disorder of glycosylation
disorder
720976009ALG3 congenital disorder of glycosylation
disorder
720977000ALG8 congenital disorder of glycosylation
disorder
720978005ALG9 congenital disorder of glycosylation
disorder
1237417007CAD-CDG - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation
disorder
718712005Carbohydrate deficient glycoprotein syndrome type 1m
disorder
725044000Carbohydrate deficient glycoprotein syndrome type 1o
disorder
709412006Congenital disorder of glycosylation type 1c
disorder
1365658002Congenital disorder of glycosylation type 1cc
disorder
725078006Congenital disorder of glycosylation type 1e
disorder
724096007Congenital disorder of glycosylation type 1f
disorder
897592003Congenital disorder of glycosylation type 1i
disorder
725079003Congenital disorder of glycosylation type 1j
disorder
733084000Congenital disorder of glycosylation type 1n
disorder
733085004Congenital disorder of glycosylation type 1p
disorder
733601006Congenital disorder of glycosylation type 1q
disorder
733083006Congenital disorder of glycosylation type 1r
disorder
733451007Congenital disorder of glycosylation type 1s
disorder
733111000Congenital disorder of glycosylation type 1w
disorder
733112007Congenital disorder of glycosylation type 1x
disorder
733115009Congenital disorder of glycosylation type 1y
disorder
459063003Congenital disorder of glycosylation type Ia
disorder
782772000Congenital muscular dystrophy with intellectual disability and severe epilepsy
disorder
1366554003Congenital myasthenic syndrome with glycosylation defect due to ALG14 UDP-N-acetylglucosaminyltransferase subunit gene mutation
disorder
1231141008Mannosephosphate isomerase congenital disorder of glycosylation
disorder
783717008PGM1-related congenital disorder of glycosylation
disorder