Code System Concept

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Code System Concept

Code System Concept Code	274864009
Code System Concept Name	Glycogen storage disease due to acid maltase deficiency (disorder)
Code System Preferred Concept Name	Glycogen storage disease due to acid maltase deficiency (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	01/31/2002
SDO Date Created	01/31/2002
SDO Date Revised	01/31/2002
Description	Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
2765038013	Glycogen storage disease, type II	Active	Synonym	false	false
3297533010	Pompe's disease	Active	Synonym	false	false
3297616011	Pompe disease	Active	Synonym	false	false
3331980017	Glycogen storage disease due to acid maltase deficiency	Active	Synonym	false	false
3331981018	Alpha-1,4-glucosidase acid deficiency	Active	Synonym	false	false
3331982013	Glycogenosis due to acid maltase deficiency	Active	Synonym	false	false
3331983015	Glycogenosis type II	Active	Synonym	false	false
410733010	Glycogen heart disease	Active	Synonym	false	false
410734016	Generalised glycogen storage disease of infants	Active	Synonym	false	false
410735015	Generalized glycogen storage disease of infants	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Birth Defect Diagnosis	1
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7 , 6 , 5 , 4 , 3 , 2 , 1
Problem Value Set	3 , 2

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Glycogen storage disease (disorder) {29633007 , SNOMED-CT } Glycogen storage disease, muscular form (disorder) {15978003 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts Glycogen storage disease due to acid maltase deficiency (disorder) {274864009 , SNOMED-CT } Parent/Child (Relationship Type) Glycogen storage disease due to acid maltase deficiency, infantile onset (disorder) {722302009 , SNOMED-CT } Glycogen storage disease due to acid maltase deficiency, late-onset (disorder) {722343009 , SNOMED-CT }

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,