63246000: Cholestanol storage disease (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Metabolic and nutritional disorders affecting skin\Xanthomatosis\Cholestanol storage disease

\Viscus structure finding\Abdominal organ finding\Liver finding\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Cholestanol storage disease

\Digestive system finding\Liver finding\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Cholestanol storage disease
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Synthetic defect of bile acids\Cholestanol storage disease
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Cholestanol storage disease

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Cholestanol storage disease
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Liver finding\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Cholestanol storage disease
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Cholestanol storage disease
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Cholestanol storage disease

\General finding of soft tissue\Skin finding\Disorder of skin\Metabolic and nutritional disorders affecting skin\Xanthomatosis\Cholestanol storage disease
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Metabolic and nutritional disorders affecting skin\Xanthomatosis\Cholestanol storage disease

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Cholestanol storage disease
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Metabolic and nutritional disorders affecting skin\Xanthomatosis\Cholestanol storage disease
\Integumentary system finding\Skin finding\Disorder of skin\Metabolic and nutritional disorders affecting skin\Xanthomatosis\Cholestanol storage disease

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids\Cholestanol storage disease
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Cholestanol storage disease
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Synthetic defect of bile acids\Cholestanol storage disease
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cholestanol storage disease
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Cholestanol storage disease
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Synthetic defect of bile acids\Cholestanol storage disease
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Cholestanol storage disease
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Metabolic and nutritional disorders affecting skin\Xanthomatosis\Cholestanol storage disease
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Synthetic defect of bile acids\Cholestanol storage disease
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Cholestanol storage disease
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Cholestanol storage disease
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids\Cholestanol storage disease
\Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Cholestanol storage disease
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipid metabolism disorder\Synthetic defect of bile acids\Cholestanol storage disease
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipid metabolism disorder\Disorder of cholesterol metabolism\Disorder of cholesterol catabolism\Cholestanol storage disease
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Disorder of cholesterol catabolism\Cholestanol storage disease
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Xanthomatosis\Cholestanol storage disease
\Disease\Congenital disease\Inborn error of metabolism\Synthetic defect of bile acids\Cholestanol storage disease
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Metabolic and nutritional disorders affecting skin\Xanthomatosis\Cholestanol storage disease

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

105135015 Cholestanol storage disease en Synonym Active Case insensitive SNOMED CT core

105136019 Cerebrotendinous xanthomatosis en Synonym Active Case insensitive SNOMED CT core

105137011 Cerebral cholesterinosis en Synonym Active Case insensitive SNOMED CT core

105138018 van Bogaert-Scherer-Epstein syndrome en Synonym Active Case sensitive SNOMED CT core

499521015 CTX - Cerebrotendinous xanthomatosis en Synonym Active Case sensitive SNOMED CT core

499522010 Cerebrotendinous cholesterinosis en Synonym Active Case insensitive SNOMED CT core

499523017 Cholestanolosis en Synonym Active Case insensitive SNOMED CT core

499524011 Van Bogaert-Scherer-Epstein disease en Synonym Active Initial character case insensitive SNOMED CT core

802508019 Cholestanol storage disease (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cholestanol storage disease	Occurrence	Congenital	true	Inferred relationship	Some	1
Cholestanol storage disease	Finding site	Liver structure	true	Inferred relationship	Some	3
Cholestanol storage disease	Is a	Congenital anomaly of integument	false	Inferred relationship	Some
Cholestanol storage disease	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Cholestanol storage disease	Is a	Xanthomatosis	true	Inferred relationship	Some
Cholestanol storage disease	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Cholestanol storage disease	Is a	Familial disease with storage of sterols (other than cholesterol)	false	Inferred relationship	Some
Cholestanol storage disease	Is a	Disorder of cholesterol catabolism	true	Inferred relationship	Some
Cholestanol storage disease	Is a	Synthetic defect of bile acids	true	Inferred relationship	Some
Cholestanol storage disease	Is a	Digestive system hereditary disorder	false	Inferred relationship	Some
Cholestanol storage disease	Finding site	Liver structure	false	Inferred relationship	Some	1
Cholestanol storage disease	Occurrence	Congenital	false	Inferred relationship	Some
Cholestanol storage disease	Finding site	Skin structure	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ataxia due to cerebrotendinous xanthomatosis	Due to	True	Cholestanol storage disease	Inferred relationship	Some	1
Ataxia co-occurrent and due to cerebrotendinous xanthomatosis	Due to	False	Cholestanol storage disease	Inferred relationship	Some	3
Ataxia co-occurrent and due to cerebrotendinous xanthomatosis	Is a	False	Cholestanol storage disease	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
105135015	Cholestanol storage disease	en	Synonym	Active	Case insensitive	SNOMED CT core
105136019	Cerebrotendinous xanthomatosis	en	Synonym	Active	Case insensitive	SNOMED CT core
105137011	Cerebral cholesterinosis	en	Synonym	Active	Case insensitive	SNOMED CT core
105138018	van Bogaert-Scherer-Epstein syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
499521015	CTX - Cerebrotendinous xanthomatosis	en	Synonym	Active	Case sensitive	SNOMED CT core
499522010	Cerebrotendinous cholesterinosis	en	Synonym	Active	Case insensitive	SNOMED CT core
499523017	Cholestanolosis	en	Synonym	Active	Case insensitive	SNOMED CT core
499524011	Van Bogaert-Scherer-Epstein disease	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
802508019	Cholestanol storage disease (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core