783717008: Phosphoglucomutase 1-related 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\PGM1-CDG
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\PGM1-CDG
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\PGM1-CDG
• \Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\PGM1-CDG

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3759916016	PGM1-related congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3759917013	Congenital disorder of glycosylation type It	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3759918015	Congenital disorder of glycosylation type 1t	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3759919011	PGM1-CDG - Phosphoglucomutase 1-related congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3759920017	Phosphoglucomutase 1-related congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3759921018	Phosphoglucomutase 1-related congenital disorder of glycosylation	en	Synonym	Active	Case insensitive	SNOMED CT core
3759922013	Phosphoglucomutase-1 deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
4235741000168111	PGM1-CDG	en	Synonym	Active	Case sensitive	SNOMED Clinical Terms Australian extension
3759923015	A rare genetic congenital disorder of glycosylation and glycogen storage disease with characteristics of a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity. Less common manifestations include malignant hyperthermia, rhabdomyolysis, and hypogonadotropic hypogonadism with delayed puberty. Caused by homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31.	en	Definition	Active	Case sensitive	SNOMED CT core
3759924014	A rare genetic congenital disorder of glycosylation and glycogen storage disease with characteristics of a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycaemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity. Less common manifestations include malignant hyperthermia, rhabdomyolysis, and hypogonadotropic hypogonadism with delayed puberty. Caused by homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31.	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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