725079003: Congenital disorder of glycosylation type 1j (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\DPAGT1-CDG - dolichyl-phosphate n-acetylglucosamine phosphotransferase congenital disorder of glycosylation
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\DPAGT1-CDG - dolichyl-phosphate n-acetylglucosamine phosphotransferase 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\DPAGT1-CDG - dolichyl-phosphate n-acetylglucosamine phosphotransferase congenital disorder of glycosylation
• \Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\DPAGT1-CDG - dolichyl-phosphate n-acetylglucosamine phosphotransferase congenital disorder of glycosylation

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3438312019	Congenital disorder of glycosylation type 1j (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3438313012	Congenital disorder of glycosylation type 1j	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3438314018	Carbohydrate deficient glycoprotein syndrome type Ij	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3438315017	Congenital disorder of glycosylation type Ij	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3438316016	Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3438317013	DPAGT1-CDG - dolichyl-phosphate n-acetylglucosamine phosphotransferase congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3438318015	A form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).	en	Definition	Active	Case sensitive	SNOMED CT core
3438319011	A form of congenital disorders of N-linked glycosylation characterised by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnoea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).	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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