733115009: Congenital disorder of glycosylation type 1y (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\SSR4-CDG - signal sequence receptor subunit 4 congenital disorder of glycosylation
• \Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\SSR4-CDG - signal sequence receptor subunit 4 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\SSR4-CDG - signal sequence receptor subunit 4 congenital disorder of glycosylation
• \Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\SSR4-CDG - signal sequence receptor subunit 4 congenital disorder of glycosylation

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3498784013	Signal sequence receptor subunit 4 congenital disorder of glycosylation	en	Synonym	Active	Case insensitive	SNOMED CT core
3498785014	Congenital disorder of glycosylation type Iy	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3498786010	SSR4-CDG - signal sequence receptor subunit 4 congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3498787018	Congenital disorder of glycosylation type 1y	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3498788011	Carbohydrate deficient glycoprotein syndrome type Iy	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3498789015	Congenital disorder of glycosylation type 1y (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3499983017	A form of congenital disorders of N-linked glycosylation with characteristics of neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4 (Xq28).	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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