Glycogen storage disease due to acid maltase deficiency, infantile onset 722302009

SNOMED CT code

SNOMED code

722302009

name

Glycogen storage disease due to acid maltase deficiency, infantile onset

status

active

date introduced

2017-01-31

fully specified name(s)

Glycogen storage disease due to acid maltase deficiency, infantile onset (disorder)

synonyms

Glycogen storage disease due to acid maltase deficiency, infantile onset
Glycogenosis due to acid maltase deficiency, infantile onset
Glycogenosis type II, infantile onset
Pompe disease, infantile onset
Glycogen storage disease type II infantile onset

attributes - group2

Due to

Deficiency of glucan 1,4-alpha-glucosidase 124454007

attributes - group1

Occurrence

Congenital 255399007

parents

Glycogen storage disease due to acid maltase deficiency 274864009

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Metabolic disease 75934005
Disorder of carbohydrate metabolism 20957000
Glycogen storage disease 29633007
Glycogen storage disease due to acid maltase deficiency 274864009
Glycogen storage disease due to acid maltase deficiency, infantile onset 722302009

ancestors

sorted most to least specific

Glycogen storage disease due to acid maltase deficiency 274864009
Glycogen storage disease 29633007
Autosomal recessive hereditary disorder 85995004
Disorder of carbohydrate metabolism 20957000
Autosomal hereditary disorder 1899006
Storage disease 34420000
Inborn error of metabolism 86095007
Hereditary metabolic disease 1821000146108
Congenital disease 66091009
Metabolic disease 75934005
Hereditary disease 32895009
Genetic disease 782964007
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Disease 64572001

Metabolic disease 75934005

Disorder of carbohydrate metabolism 20957000

Glycogen storage disease 29633007

Glycogen storage disease due to acid maltase deficiency 274864009

Glycogen storage disease due to acid maltase deficiency, infantile onset 722302009

SNOMED CT code