733085004: Congenital disorder of glycosylation type 1p (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\ALG11-CDG - asparagine-linked glycosylation 11 congenital disorder of glycosylation
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\ALG11-CDG - asparagine-linked glycosylation 11 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\ALG11-CDG - asparagine-linked glycosylation 11 congenital disorder of glycosylation
• \Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\ALG11-CDG - asparagine-linked glycosylation 11 congenital disorder of glycosylation

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3498709018	Congenital disorder of glycosylation type Ip	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3498710011	Asparagine-linked glycosylation 11 congenital disorder of glycosylation	en	Synonym	Active	Case insensitive	SNOMED CT core
3498711010	Carbohydrate deficient glycoprotein syndrome type Ip	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3498712015	ALG11-CDG - asparagine-linked glycosylation 11 congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3498713013	Congenital disorder of glycosylation type 1p	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3498714019	Congenital disorder of glycosylation type 1p (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3499964012	A form of congenital disorders of N-linked glycosylation with characteristics of facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).	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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