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34420000: Storage disease (disorder)

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
57457012 Storage disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
4501921000241114 maladie de surcharge fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4501921000241114 maladie de surcharge fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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

This concept is not in any reference sets

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