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238049009: Carbohydrate-deficient glycoprotein syndrome (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3036810012 Carbohydrate deficiency glycoprotein syndrome en Synonym Active Case insensitive SNOMED CT core
3037759010 Carbohydrate deficient glycoprotein syndrome en Synonym Active Case insensitive SNOMED CT core
356827017 Carbohydrate-deficient glycoprotein syndrome en Synonym Active Case insensitive SNOMED CT core
356828010 CDG - Carbohydrate-deficient glycoprotein syndrome en Synonym Active Case sensitive SNOMED CT core
3760400018 Congenital disorder of glycosylation en Synonym Active Case insensitive SNOMED CT core
626877012 Carbohydrate-deficient glycoprotein syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

55 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Carbohydrate deficient glycoprotein syndrome Occurrence Congenital true Inferred relationship Some 1
Carbohydrate deficient glycoprotein syndrome Finding site Body system structure false Inferred relationship Some
Carbohydrate deficient glycoprotein syndrome Is a Glycoprotein metabolism disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Xylosyltransferase 1 congenital disorder of glycosylation Is a True Carbohydrate deficient glycoprotein syndrome Inferred relationship Some
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Is a True Carbohydrate deficient glycoprotein syndrome Inferred relationship Some
Multiple congenital anomalies, hypotonia, seizures syndrome Is a True Carbohydrate deficient glycoprotein syndrome Inferred relationship Some
Jarcho-Levin syndrome Is a True Carbohydrate deficient glycoprotein syndrome Inferred relationship Some
Early-onset epilepsy, intellectual disability, brain anomalies syndrome Is a True Carbohydrate deficient glycoprotein syndrome Inferred relationship Some
POGLUT1-related limb girdle muscular dystrophy R21 Is a True Carbohydrate deficient glycoprotein syndrome Inferred relationship Some
Seizures, scoliosis, macrocephaly syndrome Is a True Carbohydrate deficient glycoprotein syndrome Inferred relationship Some
Phosphoglucomutase 3-related congenital disorder of glycosylation Is a True Carbohydrate deficient glycoprotein syndrome Inferred relationship Some
Limb girdle muscular dystrophy due to POMK deficiency Is a True Carbohydrate deficient glycoprotein syndrome Inferred relationship Some
SLC35A1 congenital disorder of glycosylation Is a True Carbohydrate deficient glycoprotein syndrome Inferred relationship Some
Carbohydrate-deficient glycoprotein syndrome type I Is a True Carbohydrate deficient glycoprotein syndrome Inferred relationship Some
Carbohydrate-deficient glycoprotein syndrome type II Is a True Carbohydrate deficient glycoprotein syndrome Inferred relationship Some
Carbohydrate-deficient glycoprotein syndrome type III Is a True Carbohydrate deficient glycoprotein syndrome Inferred relationship Some
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Is a True Carbohydrate deficient glycoprotein syndrome Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

REPLACED BY association reference set

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