720941007: Asparagine-linked glycosylation 1 congenital disorder of glycosylation (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\ALG1 congenital disorder of glycosylation
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\ALG1 congenital disorder of glycosylation
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\ALG1 congenital disorder of glycosylation
• \Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\ALG1 congenital disorder of glycosylation

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3322575014	Asparagine-linked glycosylation 1 congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3322690019	Asparagine-linked glycosylation 1 congenital disorder of glycosylation	en	Synonym	Active	Case insensitive	SNOMED CT core
3322691015	ALG1 congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3322692010	Congenital disorder of glycosylation type 1K	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3322693017	Carbohydrate deficient glycoprotein syndrome type Ik	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3322694011	Mannosyltransferase 1 deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3322752016	ALG1-CDG - asparagine-linked glycosylation 1 congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3322695012	A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).	en	Definition	Active	Case sensitive	SNOMED CT core
3322696013	A severe form of congenital disorders of N-linked glycosylation characterised by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of haemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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