722302009: Glycogen storage disease type II infantile onset (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease due to acid maltase deficiency\Glycogen storage disease due to acid maltase deficiency, infantile onset
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Glycogen storage disease due to acid maltase deficiency\Glycogen storage disease due to acid maltase deficiency, infantile onset
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease due to acid maltase deficiency\Glycogen storage disease due to acid maltase deficiency, infantile onset
• \Metabolic disease\Disorder of carbohydrate metabolism\Glycogen storage disease\Glycogen storage disease due to acid maltase deficiency\Glycogen storage disease due to acid maltase deficiency, infantile onset
• \Congenital disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease due to acid maltase deficiency\Glycogen storage disease due to acid maltase deficiency, infantile onset

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3331990013	Glycogen storage disease due to acid maltase deficiency, infantile onset	en	Synonym	Active	Case insensitive	SNOMED CT core
3331991012	Glycogenosis due to acid maltase deficiency, infantile onset	en	Synonym	Active	Case insensitive	SNOMED CT core
3331992017	Glycogenosis type II, infantile onset	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3331993010	Pompe disease, infantile onset	en	Synonym	Active	Case sensitive	SNOMED CT core
3331994016	Glycogen storage disease type II infantile onset (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3334442014	Glycogen storage disease type II infantile onset	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3331988012	Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency. Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal.	en	Definition	Active	Case sensitive	SNOMED CT core
3332474015	Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency. Characterised by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal.	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

Back to Start