1187461004: Glycogen storage disease due to aldolase A deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease due to aldolase A deficiency (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Glycogen storage disease due to aldolase A deficiency (disorder)
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease due to aldolase A deficiency (disorder)
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease due to aldolase A deficiency (disorder)
• \Metabolic disease\Disorder of carbohydrate metabolism\Glycogen storage disease\Glycogen storage disease due to aldolase A deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4673845019	Glycogen storage disease due to aldolase A deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4673846018	Glycogen storage disease due to aldolase A deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4673848017	Glycogen storage disease type 12	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4673849013	Glycogen storage disease type XII	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4673850013	Glycogenosis type 12	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4673852017	Glycogenosis due to aldolase A deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4673853010	Glycogenosis type XII	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5399614015	Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has recently been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399615019	Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterised by haemolytic anaemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without haemolytic anaemia has recently been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start