Carbohydrate-deficient glycoprotein syndrome 238049009 SNOMED CT code SNOMED code 238049009 name Carbohydrate-deficient glycoprotein syndrome status active date introduced 2002-01-31 fully specified name(s) Carbohydrate-deficient glycoprotein syndrome (disorder) synonyms Carbohydrate deficiency glycoprotein syndrome Carbohydrate deficient glycoprotein syndrome Carbohydrate-deficient glycoprotein syndrome CDG - Carbohydrate-deficient glycoprotein syndrome Congenital disorder of glycosylation attributes - group1 Occurrence Congenital 255399007 parents Disorder of glycoprotein metabolism 238045003 children Carbohydrate-deficient glycoprotein syndrome type I 277893002 Carbohydrate-deficient glycoprotein syndrome type II 277894008 Carbohydrate-deficient glycoprotein syndrome type III 277895009 Early-onset epilepsy, intellectual disability, brain anomalies syndrome 1172627007 Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome 770755007 Jarcho-Levin syndrome 61367005 Limb girdle muscular dystrophy due to POMK deficiency 1234819007 Multiple congenital anomalies, hypotonia, seizures syndrome 785303004 Multiple congenital anomalies, hypotonia, seizures syndrome type 2 773643006 Phosphoglucomutase 3-related congenital disorder of glycosylation 1187623009 POGLUT1-related limb girdle muscular dystrophy R21 1172703004 Seizures, scoliosis, macrocephaly syndrome 1187250005 SLC35A1 congenital disorder of glycosylation 723624008 XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation 773418007 hierarchies a selection of possible paths
SNOMED CT Concept 138875005 404684003 64572001 66091009 86095007 238045003 238049009 ancestors sorted most to least specific
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