238032002: Disorder of cholesterol catabolism (disorder)

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

\Disorder of lipid metabolism\Disorder of cholesterol metabolism\Disorder of cholesterol catabolism

\Disorder of lipid storage and metabolism\Disorder of cholesterol catabolism

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

356785019 Disorder of cholesterol catabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626855013 Disorder of cholesterol catabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3905251000005111 forstyrrelse af kolesterolskatabolisme 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 cholesterol catabolism	Is a	Disorder of cholesterol metabolism	true	Inferred relationship	Some
Disorder of cholesterol catabolism	Is a	Disorder of lipid storage and metabolism	true	Inferred relationship	Some
Disorder of cholesterol catabolism	Occurrence	Congenital	false	Inferred relationship	Some
Disorder of cholesterol catabolism	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
The most common anomaly of bile acid synthesis with characteristics of variable manifestations of progressive cholestatic liver disease and fat malabsorption. The clinical presentation is heterogeneous, however most patients present with features of neonatal cholestasis. The disease is caused by a mutation in the gene encoding 3-beta-hydroxy-delta-5-C27 steroid oxidoreductase (HSD3B7, 16p12-p11.2). Transmission is autosomal recessive.	Is a	True	Disorder of cholesterol catabolism	Inferred relationship	Some
An anomaly of bile acid synthesis with characteristics of severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins. Patients present with neonatal cholestasis and rapid progression to cirrhosis and death in infancy without intervention. Caused by a mutation in the delta(4)-3-oxosteroid 5-beta-reductase gene (AKR1D1, 7q32-q33). Transmission is autosomal recessive.	Is a	True	Disorder of cholesterol catabolism	Inferred relationship	Some
Cholestanol storage disease	Is a	True	Disorder of cholesterol catabolism	Inferred relationship	Some

This concept is not in any reference sets