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10741005: Lipid storage disease (disorder)

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

\Disorder of foetus and/or newborn\Congenital 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

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

Descriptions:

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
A lysosomal storage disease, belonging to the group of oligosaccharidosis or with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease with characteristics of gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II (see this term) the more severe, early onset form, with characteristics of progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations.	Is a	False	Lipid storage disease	Inferred relationship	Some
Sphingomyelin/cholesterol lipidosis	Is a	True	Lipid storage disease	Inferred relationship	Some
Fucosidosis is an extremely rare lysosomal storage disorder with characteristics of a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.	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
Xanthoma due to lipid storage disease (disorder)	Due to	True	Lipid storage disease	Inferred relationship	Some	2
A rare inborn error of metabolism characterized by massive accumulation of triglycerides in the myocardium and coronary arteries, while plasma triglyceride levels are normal. Patients present in adulthood with signs and symptoms of coronary artery disease and severe heart failure. Concomitant skeletal myopathy is common. Vacuole formation in polymorphonuclear leukocytes is typically observed.	Is a	True	Lipid storage disease	Inferred relationship	Some
Xanthoma due to lipid storage disease (disorder)	Is a	True	Lipid storage disease	Inferred relationship	Some

This concept is not in any reference sets

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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
2052161000005116	storage disease med lipidophobning	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)