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

356785019 Disorder of cholesterol catabolism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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 Only initial character 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

5021521000241119 trouble du catabolisme du cholestérol fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5021521000241119 trouble du catabolisme du cholestérol fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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	Existential restriction modifier (core metadata concept)
Disorder of cholesterol catabolism	Is a	Disorder of lipid storage and metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder of cholesterol catabolism	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder of cholesterol catabolism	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency	Is a	True	Disorder of cholesterol catabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
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	Existential restriction modifier (core metadata concept)
Cholestanol storage disease	Is a	True	Disorder of cholesterol catabolism	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets