Code System Concept

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Code System Concept

Code System Concept Code	1230303001
Code System Concept Name	Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease (disorder)
Code System Preferred Concept Name	Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease (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Superseded By Concept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	06/30/2022
SDO Date Revised	06/30/2022
Description	A rare glycogen storage disease with fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in infancy. Patients present with massive cardiomegaly, severe cardiac and respiratory complications and failure to thrive. Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys and skeletal muscle involvement have been reported in some cases.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5068811012	Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease	Active	Synonym	false	false
5068812017	Fatal congenital hypertrophic cardiomyopathy due to glycogenosis	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 dominant hereditary disorder (disorder) {11164009 , SNOMED-CT } Cardiovascular system hereditary disorder (disorder) {363005004 , SNOMED-CT } Congenital anomaly of myocardium (disorder) {204394002 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Glycogen storage disease (disorder) {29633007 , SNOMED-CT } Hypertrophic cardiomyopathy due to glycogen storage disease (disorder) {871638006 , 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,