733112007: Congenital disorder of glycosylation type 1x (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\Congenital disorder of glycosylation type 1x
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital disorder of glycosylation type 1x
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\Congenital disorder of glycosylation type 1x
• \Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\Congenital disorder of glycosylation type 1x

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3498776014	Congenital disorder of glycosylation type Ix	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3498777017	STT3B-CDG (congenital disorder of glycosylation)	en	Synonym	Active	Case sensitive	SNOMED CT core
3498778010	Carbohydrate deficient glycoprotein syndrome type Ix	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3498779019	Congenital disorder of glycosylation type 1x	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3498780016	Congenital disorder of glycosylation type 1x (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3499980019	A form of congenital disorders of N-linked glycosylation with characteristics of intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. Caused by mutations in the gene STT3B (3p24.1).	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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