277894008: Carbohydrate-deficient glycoprotein syndrome type II (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

414628010 N-Acetylglucosaminyl transferase II deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

414629019 CDG - Carbohydrate-deficient glycoprotein syndrome type II en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

414630012 Carbohydrate-deficient glycoprotein syndrome type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

670984014 Carbohydrate-deficient glycoprotein syndrome type II (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

414628010 N-Acetylglucosaminyl transferase II deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

414629019 CDG - Carbohydrate-deficient glycoprotein syndrome type II en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

414630012 Carbohydrate-deficient glycoprotein syndrome type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

670984014 Carbohydrate-deficient glycoprotein syndrome type II (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5942891000241119 syndrome des glycoprotéines déficientes en hydrates de carbone de type II fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5942901000241118 syndrome CDG (carbohydrate-deficient glycoprotein) de type II fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5942911000241116 anomalie congénitale de la glycosylation de type II fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5942891000241119 syndrome des glycoprotéines déficientes en hydrates de carbone de type II fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5942901000241118 syndrome CDG (carbohydrate-deficient glycoprotein) de type II fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5942911000241116 anomalie congénitale de la glycosylation de type II fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Carbohydrate-deficient glycoprotein syndrome type II	Is a	Carbohydrate-deficient glycoprotein syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Carbohydrate-deficient glycoprotein syndrome type II	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Carbohydrate-deficient glycoprotein syndrome type II	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
COG1 congenital disorder of glycosylation	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Existential restriction modifier (core metadata concept)
Component of oligomeric golgi complex 4 congenital disorder of glycosylation (disorder)	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Existential restriction modifier (core metadata concept)
COG7 congenital disorder of glycosylation	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Existential restriction modifier (core metadata concept)
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Existential restriction modifier (core metadata concept)
Component of oligomeric golgi complex 5 congenital disorder of glycosylation (disorder)	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Existential restriction modifier (core metadata concept)
Carbohydrate deficient glycoprotein syndrome type 2a	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Existential restriction modifier (core metadata concept)
Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Existential restriction modifier (core metadata concept)
B4GALT1-CDG is a congenital disorder of glycosylation characterized by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Existential restriction modifier (core metadata concept)
Carbohydrate deficient glycoprotein syndrome type 2k (disorder)	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Existential restriction modifier (core metadata concept)
MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterised by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3).	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Existential restriction modifier (core metadata concept)
Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Existential restriction modifier (core metadata concept)
Solute carrier family 39 member 8 congenital disorder of glycosylation (disorder)	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Existential restriction modifier (core metadata concept)
Coiled-coil domain containing 115 congenital disorder of glycosylation (disorder)	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Existential restriction modifier (core metadata concept)
Component of oligomeric golgi complex 2-related congenital disorder of glycosylation (disorder)	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare congenital disorder of glycosylation characterised by chronic, non-progressive liver disease, manifesting as mild steatosis with elevated serum transaminases and alkaline phosphatase, hypercholesterolaemia, and decreased coagulation factors and ceruloplasmin. Transferrin glycosylation pattern is consistent with a type 2 congenital disorder of glycosylation. Liver biopsy may show mild non-progressive fibrosis. Patients usually remain asymptomatic, although delayed psychomotor development and hypotonia have been reported in single cases.	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Existential restriction modifier (core metadata concept)
Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder)	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets