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

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	Some
Disorder of cholesterol synthesis	Is a	Disorder of cholesterol metabolism	true	Inferred relationship	Some
Disorder of cholesterol synthesis	Occurrence	Congenital	false	Inferred relationship	Some
Disorder of cholesterol synthesis	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Smith-Lemli-Opitz syndrome	Is a	True	Disorder of cholesterol synthesis	Inferred relationship	Some
Desmosterolosis (disorder)	Is a	True	Disorder of cholesterol synthesis	Inferred relationship	Some
Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized 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	Some
A rare genodermatosis disease with great phenotypic variation and characterised most commonly by ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.	Is a	True	Disorder of cholesterol synthesis	Inferred relationship	Some
A rare sterol biosynthesis disorder characterized by microcephaly, bilateral congenital cataract, mild developmental delay, growth delay with short stature, psoriasiform dermatitis of variable severity, and immune dysregulation. Behavioral disorder, joint contractures, and arthralgia have also been described.	Is a	True	Disorder of cholesterol synthesis	Inferred relationship	Some

This concept is not in any reference sets