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34420000: Storage disease (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
57457012 Storage disease en Synonym Active Case insensitive SNOMED CT core
765941013 Storage disease (disorder) en Fully specified name Active Case insensitive SNOMED CT core

169 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Storage disease Is a Inborn error of metabolism true Inferred relationship Some
Storage disease Occurrence Congenital true Inferred relationship Some 1
Storage disease Finding site Body system structure false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Cardiomyopathy due to storage disease Due to True Storage disease Inferred relationship Some 1
Dilated cardiomyopathy due to lysosomal storage disease Due to True Storage disease Inferred relationship Some 2
Dilated cardiomyopathy due to familial storage disease Due to True Storage disease Inferred relationship Some 2
Splenomegaly due to storage disease Due to True Storage disease Inferred relationship Some 2
Cystinosis Is a True Storage disease Inferred relationship Some
Disorder of lysosomal enzyme Is a True Storage disease Inferred relationship Some
Phytanic acid storage disease Is a True Storage disease Inferred relationship Some
Glycogen storage disease Is a True Storage disease Inferred relationship Some
Restrictive cardiomyopathy secondary to familial storage disease Is a False Storage disease Inferred relationship Some
Cystinosis Is a False Storage disease Inferred relationship Some
Cholesterol ester storage disease Is a False Storage disease Inferred relationship Some
Familial disease with storage of sterols (other than cholesterol) Is a True Storage disease Inferred relationship Some
Dilated cardiomyopathy due to familial storage disease Is a False Storage disease Inferred relationship Some
Dilated cardiomyopathy due to familial storage disease Associated with False Storage disease Inferred relationship Some 2
Storage disease of the lung Is a False Storage disease Inferred relationship Some
Zellweger syndrome Is a False Storage disease Inferred relationship Some
Splenomegaly co-occurrent and due to storage disease Due to False Storage disease Inferred relationship Some 2
Splenomegaly co-occurrent and due to storage disease Is a False Storage disease Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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