Carbohydrate-deficient glycoprotein syndrome type I 277893002 SNOMED CT code SNOMED code 277893002 name Carbohydrate-deficient glycoprotein syndrome type I status active date introduced 2002-01-31 fully specified name(s) Carbohydrate-deficient glycoprotein syndrome type I (disorder) synonyms Carbohydrate-deficient glycoprotein syndrome type I CDG - Carbohydrate-deficient glycoprotein syndrome type I attributes - group1 Occurrence Congenital 255399007 parents Carbohydrate-deficient glycoprotein syndrome 238049009 children ALG1 congenital disorder of glycosylation 720941007 ALG12-congenital disorder of glycosylation 711155008 ALG3 congenital disorder of glycosylation 720976009 ALG8 congenital disorder of glycosylation 720977000 ALG9 congenital disorder of glycosylation 720978005 CAD-CDG - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation 1237417007 Carbohydrate deficient glycoprotein syndrome type 1m 718712005 Carbohydrate deficient glycoprotein syndrome type 1o 725044000 Congenital disorder of glycosylation type 1c 709412006 Congenital disorder of glycosylation type 1e 725078006 Congenital disorder of glycosylation type 1f 724096007 Congenital disorder of glycosylation type 1i 897592003 Congenital disorder of glycosylation type 1j 725079003 Congenital disorder of glycosylation type 1n 733084000 Congenital disorder of glycosylation type 1p 733085004 Congenital disorder of glycosylation type 1q 733601006 Congenital disorder of glycosylation type 1r 733083006 Congenital disorder of glycosylation type 1s 733451007 Congenital disorder of glycosylation type 1w 733111000 Congenital disorder of glycosylation type 1x 733112007 Congenital disorder of glycosylation type 1y 733115009 Congenital disorder of glycosylation type Ia 459063003 Congenital muscular dystrophy with intellectual disability and severe epilepsy 782772000 Mannosephosphate isomerase congenital disorder of glycosylation 1231141008 PGM1-related congenital disorder of glycosylation 783717008 hierarchies a selection of possible paths
SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Disorder of glycoprotein metabolism 238045003 Carbohydrate-deficient glycoprotein syndrome 238049009 Carbohydrate-deficient glycoprotein syndrome type I 277893002 ancestors sorted most to least specific
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