34420000: Storage disease (disorder)

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

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

\Metabolic disease\Inborn error of metabolism\Storage disease

\Congenital disease (disorder)\Inborn error of metabolism\Storage disease

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

Descriptions:

Id Description Lang Type Status Case? Module

57457012 Storage disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

765941013 Storage disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3443361000052119 inlagringssjukdom sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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
Disorder of lysosomal enzyme	Is a	True	Storage disease	Inferred relationship	Some
HSMN IV	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 (disorder)	Is a	False	Storage disease	Inferred relationship	Some
Storage disease of the lung	Is a	False	Storage disease	Inferred relationship	Some
Zellweger syndrome	Is a	False	Storage disease	Inferred relationship	Some
Cystinosis (disorder)	Is a	True	Storage disease	Inferred relationship	Some
Dilated cardiomyopathy due to familial storage disease (disorder)	Associated with	False	Storage disease	Inferred relationship	Some	2
splenomegali samtidig med och orsakad av inlagringssjukdom	Due to	False	Storage disease	Inferred relationship	Some	2
splenomegali samtidig med och orsakad av inlagringssjukdom	Is a	False	Storage disease	Inferred relationship	Some
Cardiomyopathy due to storage disease	Due to	True	Storage disease	Inferred relationship	Some	1
Dilated cardiomyopathy due to lysosomal storage disease (disorder)	Due to	True	Storage disease	Inferred relationship	Some	2
Dilated cardiomyopathy due to familial storage disease (disorder)	Due to	True	Storage disease	Inferred relationship	Some	2
Enlargement of spleen due to storage disease (disorder)	Due to	True	Storage disease	Inferred relationship	Some	2

This concept is not in any reference sets