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10741005: Lipid 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
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
1003171000172111 maladie de surchage lipidique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3437701001000116 Lipidspeicherkrankheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

28 descendants. Search Descendants:

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 (disorder) 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 lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non-dysmorphic form of the disease characterized by 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 the more severe, early onset form, characterized by a 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
A rare lysosomal storage disease characterized by widespread tissue buildup of glycolipids and oligosaccharides rich in fucose. Patients present with broad clinical characteristics such as intellectual disability, developmental delay associated with psychomotor regression and bone abnormalities, visceromegaly, hyperhidrosis, and dermatological abnormalities. 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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