34420000: Storage disease (disorder)

SNOMED CT Concept\Clinical finding\Disease\...

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease

\Congenital disease\Inborn error of metabolism\Storage disease

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

57457012 Storage disease en Synonym Active Entire term case insensitive SNOMED CT core module
57458019 Storage disease, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
213736015 Thesaurosis en Synonym Inactive Only initial character case insensitive SNOMED CT core module
765941013 Storage disease (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Storage disease	Is a	Inborn error of metabolism	true	Inferred relationship	Existential restriction modifier
Storage disease	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Storage disease	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Disorder of lysosomal enzyme	Is a	True	Storage disease	Inferred relationship	Existential restriction modifier
Phytanic acid storage disease	Is a	True	Storage disease	Inferred relationship	Existential restriction modifier
Glycogen storage disease	Is a	True	Storage disease	Inferred relationship	Existential restriction modifier
Restrictive cardiomyopathy secondary to familial storage disease	Is a	False	Storage disease	Inferred relationship	Existential restriction modifier
Cystinosis	Is a	False	Storage disease	Inferred relationship	Existential restriction modifier
Cholesterol ester storage disease	Is a	False	Storage disease	Inferred relationship	Existential restriction modifier
Familial disease with storage of sterols (other than cholesterol)	Is a	True	Storage disease	Inferred relationship	Existential restriction modifier
Dilated cardiomyopathy due to familial storage disease	Is a	False	Storage disease	Inferred relationship	Existential restriction modifier
Storage disease of the lung	Is a	False	Storage disease	Inferred relationship	Existential restriction modifier
Zellweger syndrome	Is a	False	Storage disease	Inferred relationship	Existential restriction modifier
Cystinosis	Is a	True	Storage disease	Inferred relationship	Existential restriction modifier
Dilated cardiomyopathy due to familial storage disease	Associated with	False	Storage disease	Inferred relationship	Existential restriction modifier	2
Splenomegaly co-occurrent and due to storage disease	Due to	False	Storage disease	Inferred relationship	Existential restriction modifier	2
Splenomegaly co-occurrent and due to storage disease	Is a	False	Storage disease	Inferred relationship	Existential restriction modifier
Cardiomyopathy due to storage disease	Due to	True	Storage disease	Inferred relationship	Existential restriction modifier	1
Dilated cardiomyopathy due to lysosomal storage disease	Due to	True	Storage disease	Inferred relationship	Existential restriction modifier	2
Dilated cardiomyopathy due to familial storage disease	Due to	True	Storage disease	Inferred relationship	Existential restriction modifier	2
Enlargement of spleen due to storage disease	Due to	True	Storage disease	Inferred relationship	Existential restriction modifier	2

This concept is not in any reference sets