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238017009: Disorder of lipid storage and metabolism (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
356754011 Disorder of lipid storage and metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
626837016 Disorder of lipid storage and metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6072031000241116 trouble du stockage et du métabolisme lipidique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6072041000241114 trouble du stockage et du métabolisme des lipides fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

93 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Disorder of lipid storage and metabolism Is a Disorder of lipoprotein AND/OR lipid metabolism true Inferred relationship Some
Disorder of lipid storage and metabolism Occurrence Congenital false Inferred relationship Some
Disorder of lipid storage and metabolism Finding site Body system structure false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Lipid storage disease Is a True Disorder of lipid storage and metabolism Inferred relationship Some
Sphingolipidosis Is a True Disorder of lipid storage and metabolism Inferred relationship Some
Disorder of cholesterol catabolism Is a True Disorder of lipid storage and metabolism Inferred relationship Some
Disorder of cholesterol synthesis Is a True Disorder of lipid storage and metabolism Inferred relationship Some
Sjögren-Larsson syndrome (disorder) Is a True Disorder of lipid storage and metabolism Inferred relationship Some
Lipoidosis Is a True Disorder of lipid storage and metabolism Inferred relationship Some
HSMN IV Is a False Disorder of lipid storage and metabolism Inferred relationship Some
Phosphatidylcholine-sterol acyltransferase deficiency Is a False Disorder of lipid storage and metabolism Inferred relationship Some
Gangliosidosis Is a True Disorder of lipid storage and metabolism Inferred relationship Some
Xanthomatosis Is a False Disorder of lipid storage and metabolism Inferred relationship Some
Pancreatic colipase deficiency (disorder) Is a False Disorder of lipid storage and metabolism Inferred relationship Some
Pancreatic triacylglycerol lipase deficiency Is a True Disorder of lipid storage and metabolism Inferred relationship Some
Farber's lipogranulomatosis Is a True Disorder of lipid storage and metabolism Inferred relationship Some
Wolman's disease Is a False Disorder of lipid storage and metabolism Inferred relationship Some
FH: Hypercholesterolemia Associated finding False Disorder of lipid storage and metabolism Inferred relationship Some 1
FH: Raised blood lipids Associated finding False Disorder of lipid storage and metabolism Inferred relationship Some 1
antécédents familiaux : cholestérol élevé Associated finding False Disorder of lipid storage and metabolism Inferred relationship Some 1
FH: Hypercholesterolemia in first degree relative Associated finding False Disorder of lipid storage and metabolism Inferred relationship Some 1
FH: Hypercholesterolemia Associated finding False Disorder of lipid storage and metabolism Inferred relationship Some 1
FH: Hypercholesterolemia in first degree relative Associated finding False Disorder of lipid storage and metabolism Inferred relationship Some 1
Abnormal lipid deposits (disorder) Is a True Disorder of lipid storage and metabolism Inferred relationship Some
Lysosomal acid lipase deficiency Is a True Disorder of lipid storage and metabolism Inferred relationship Some
GM3 synthase deficiency is a rare congenital disorder of glycosylation due to impaired synthesis of complex ganglioside species initially characterized by irritability, poor feeding, failure to thrive and early-onset refractory epilepsy, followed by postnatal growth impairment, severe developmental delay or developmental regression, profound intellectual disability, deafness and abnormalities of skin pigmentation (mostly freckle-like hyperpigmented and depigmented macules). Visual impairment due to cortical atrophy (visible on magnetic resonance imaging), choreoathetosis and hypotonic tetraparesis usually appear gradually. Dysmorphic facial features may be associated. Is a True Disorder of lipid storage and metabolism Inferred relationship Some

This concept is not in any reference sets

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