Code System Concept

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Code System Concept

Code System Concept Code	1187461004
Code System Concept Name	Glycogen storage disease due to aldolase A deficiency (disorder)
Code System Preferred Concept Name	Glycogen storage disease due to aldolase A 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Superseded By Concept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	09/01/2022
SDO Date Created	01/31/2022
SDO Date Revised	01/31/2022
Description	An extremely rare glycogen storage disease with characteristics of 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 been reported.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
4673846018	Glycogen storage disease due to aldolase A deficiency	Active	Synonym	false	false
4673848017	Glycogen storage disease type 12	Active	Synonym	false	false
4673849013	Glycogen storage disease type XII	Active	Synonym	false	false
4673850013	Glycogenosis type 12	Active	Synonym	false	false
4673852017	Glycogenosis due to aldolase A deficiency	Active	Synonym	false	false
4673853010	Glycogenosis type XII	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Glycogen storage disease (disorder) {29633007 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts No child concepts present.

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