719257008: Lathosterolosis (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lathosterolosis
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\...
• \Lipid metabolism disorder\Disorder of cholesterol metabolism\Disorder of cholesterol synthesis\Lathosterolosis
• \Disorder of lipid storage and metabolism\Disorder of cholesterol synthesis\Lathosterolosis

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3315711015	Lathosterolosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3315712010	Lathosterolosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3315713017	Sterol C5 desaturase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3315714011	An extremely rare inborn error of sterol biosynthesis with manifestations of facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease. Only 4 cases have been reported in the literature to date. Lathosterolosis is due to mutations in the SC5D gene (11q23.3). A mutation in this gene leads to a deficiency in 3-beta-hydroxysteroid-delta-5-desaturase, which is necessary in the conversion of lathosterol into 7-dehydrocholesterol. This prevents the synthesis of cholesterol, which among other functions acts as a structural lipid, a precursor for bile acids and steroid hormones, and is necessary for the maturation of hedgehog morphogens during embryonic development. Inherited in an autosomal recessive manner.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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