10741005: Lipid storage disease (disorder)

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

\Genetic disease\Hereditary disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipid storage disease

\Metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipid storage disease
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipid storage disease
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Lipid storage disease

\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipid 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

18656011 Lipid storage disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

18659016 Lipidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

590743014 Lipid storage disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3010913012 Lipidoses en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3443721000052113 rubbningar i fettinlagringen 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
Lipid storage disease	Is a	Disorder of lipid storage and metabolism	true	Inferred relationship	Some
Lipid storage disease	Is a	Disorder of lysosomal enzyme	true	Inferred relationship	Some
Lipid storage disease	Occurrence	Congenital	true	Inferred relationship	Some	1
Lipid storage disease	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Pulmonary lipid storage disease	Is a	True	Lipid storage disease	Inferred relationship	Some
Lipid storage myopathy	Is a	True	Lipid storage disease	Inferred relationship	Some
Chemically-induced lipidosis	Is a	True	Lipid storage disease	Inferred relationship	Some
Retinal dystrophy in systemic lipidosis	Is a	True	Lipid storage disease	Inferred relationship	Some
Cerebral lipidosis	Is a	True	Lipid storage disease	Inferred relationship	Some
Fabry's disease	Is a	True	Lipid storage disease	Inferred relationship	Some
Triglyceride storage disease with ichthyosis	Is a	True	Lipid storage disease	Inferred relationship	Some
Sialidosis	Is a	False	Lipid storage disease	Inferred relationship	Some
Sphingomyelin/cholesterol lipidosis	Is a	True	Lipid storage disease	Inferred relationship	Some
Fucosidosis	Is a	False	Lipid storage disease	Inferred relationship	Some
I-cell disease	Is a	True	Lipid storage disease	Inferred relationship	Some
Salla disease	Is a	True	Lipid storage disease	Inferred relationship	Some
Retinal dystrophy in cerebroretinal lipidosis	Is a	True	Lipid storage disease	Inferred relationship	Some
Family history: Triglyceride high (situation)	Associated finding	False	Lipid storage disease	Inferred relationship	Some	1
Genetic disorder of lipid storage (disorder)	Is a	True	Lipid storage disease	Inferred relationship	Some
Xanthomatosis, familial	Is a	True	Lipid storage disease	Inferred relationship	Some
Cerebral degeneration associated with generalized lipidosis (disorder)	Due to	True	Lipid storage disease	Inferred relationship	Some	2

This concept is not in any reference sets