720977000: Asparagine-linked glycosylation 8 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\ALG8 congenital disorder of glycosylation
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\ALG8 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\ALG8 congenital disorder of glycosylation
• \Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\ALG8 congenital disorder of glycosylation

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3322732017	Asparagine-linked glycosylation 8 congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3322733010	Asparagine-linked glycosylation 8 congenital disorder of glycosylation	en	Synonym	Active	Case insensitive	SNOMED CT core
3322734016	ALG8 congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3322735015	Carbohydrate deficient glycoprotein syndrome type Ih	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3322736019	Congenital disorder of glycosylation type 1h	en	Synonym	Active	Case insensitive	SNOMED CT core
3322737011	Congenital disorder of glycosylation type Ih	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3322738018	Glucosyltransferase 2 deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3322750012	ALG8-CDG - asparagine-linked glycosylation 8 congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3322739014	A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.	en	Definition	Active	Case sensitive	SNOMED CT core
3322740011	A form of congenital disorders of N-linked glycosylation that is characterised by gastrointestinal symptoms (diarrhoea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), oedema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.	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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