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238017009: Disorder of lipid storage and metabolism (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism

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

2121061000005115 forstyrrelse af lipidoplagring og -stofskifte da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

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
Phosphatidylcholin-sterol-acyltransferasemangel	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	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
familieanamnese: højt kolesteroltal	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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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
2121061000005115	forstyrrelse af lipidoplagring og -stofskifte	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)