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13644009: Hypercholesterolemia (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
23283015 Hypercholesterolemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
475418015 Hypercholesterolaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
739040013 Hypercholesterolemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3035252016 High cholesterol en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1874611000195112 ipercolesterolemia it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
194471000077117 hypercholestérolémie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
888161000195115 Hypercholesterinämie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


19 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypercholesterolemia Is a Hyperlipidemia true Inferred relationship Some
Hypercholesterolemia Occurrence Congenital false Inferred relationship Some
Hypercholesterolemia Finding site Body system structure false Inferred relationship Some
Hypercholesterolemia Has definitional manifestation Serum cholesterol above reference range false Inferred relationship Some
Hypercholesterolemia Has interpretation Above reference range true Inferred relationship Some 1
Hypercholesterolemia Is a Serum cholesterol above reference range true Inferred relationship Some
Hypercholesterolemia Interprets Serum total cholesterol measurement (procedure) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Primary hypercholesterolemia Is a True Hypercholesterolemia Inferred relationship Some
Secondary hypercholesterolemia Is a True Hypercholesterolemia Inferred relationship Some
Hyperlipidemia, group A Is a True Hypercholesterolemia Inferred relationship Some
Pure hypercholesterolaemia Is a True Hypercholesterolemia Inferred relationship Some
Other specified pure hypercholesterolemia Is a False Hypercholesterolemia Inferred relationship Some
Pure hypercholesterolemia NOS Is a False Hypercholesterolemia Inferred relationship Some
FH: Hypercholesterolemia Associated finding False Hypercholesterolemia Inferred relationship Some
History of hypercholesterolemia Associated finding False Hypercholesterolemia Inferred relationship Some 1
antécédents familiaux : cholestérol élevé Associated finding False Hypercholesterolemia Inferred relationship Some 1
History of hypercholesterolemia Associated finding True Hypercholesterolemia Inferred relationship Some 1
Cholesterol screening Has focus False Hypercholesterolemia Inferred relationship Some 1
antécédents familiaux : cholestérol élevé Associated finding False Hypercholesterolemia Inferred relationship Some 1
Cholesterol screening Has focus False Hypercholesterolemia Inferred relationship Some 1
FH: Hypercholesterolemia Associated finding False Hypercholesterolemia Inferred relationship Some 1
FH: Hypercholesterolemia in first degree relative Associated finding False Hypercholesterolemia Inferred relationship Some 1
FH: Hypercholesterolemia Associated finding True Hypercholesterolemia Inferred relationship Some 1
FH: Hypercholesterolemia in first degree relative Associated finding True Hypercholesterolemia Inferred relationship Some 1
A rare sterol metabolism disorder characterized by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertriglyceridemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated. Is a True Hypercholesterolemia Inferred relationship Some
A rare congenital disorder of glycosylation characterized by chronic, non-progressive liver disease, manifesting as mild steatosis with elevated serum transaminases and alkaline phosphatase, hypercholesterolemia, and decreased coagulation factors and ceruloplasmin. Transferrin glycosylation pattern is consistent with a type 2 congenital disorder of glycosylation. Liver biopsy may show mild non-progressive fibrosis. Patients usually remain asymptomatic, although delayed psychomotor development and hypotonia have been reported in single cases. Is a True Hypercholesterolemia Inferred relationship Some

This concept is not in any reference sets

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