238036004: Disorder of cholesterol synthesis (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 synthesis

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

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

356790016 Disorder of cholesterol synthesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626860012 Disorder of cholesterol synthesis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

356790016 Disorder of cholesterol synthesis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

356790016 Disorder of cholesterol synthesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626860012 Disorder of cholesterol synthesis (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

626860012 Disorder of cholesterol synthesis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5021601000241111 maladie de la synthèse du cholestérol fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5021601000241111 maladie de la synthèse 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 synthesis	Is a	Disorder of lipid storage and metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder of cholesterol synthesis	Is a	Disorder of cholesterol metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder of cholesterol synthesis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder of cholesterol synthesis	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Smith-Lemli-Opitz syndrome	Is a	True	Disorder of cholesterol synthesis	Inferred relationship	Existential restriction modifier (core metadata concept)
Desmosterolosis (disorder)	Is a	True	Disorder of cholesterol synthesis	Inferred relationship	Existential restriction modifier (core metadata concept)
Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterised by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.	Is a	True	Disorder of cholesterol synthesis	Inferred relationship	Existential restriction modifier (core metadata concept)
Chondrodysplasia punctata, X-linked dominant type (disorder)	Is a	True	Disorder of cholesterol synthesis	Inferred relationship	Existential restriction modifier (core metadata concept)
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome	Is a	True	Disorder of cholesterol synthesis	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets