63246000: Cholestanol storage disease (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

\Finding of trunk structure\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Cholestanol storage disease
\Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\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\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cholestanol storage disease
\Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Synthetic defect of bile acids\Cholestanol storage disease
\Disease\Disorder of body system\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Cholestanol storage disease
\Disease\Disorder of body system\Leucodystrophy\Cholestanol storage disease
\Disease\Disorder of trunk (disorder)\Disease of liver\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\Disorder of lipid metabolism\Disorder of cholesterol catabolism\Cholestanol storage disease
\Disease\Metabolic disease\Disorder of lipid 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

Status: current. Date: 31-Jan 2002

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cholestanol storage disease	Is a	Leucodystrophy	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Cholestanol storage disease	Is a	Synthetic defect of bile acids	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Cholestanol storage disease	Is a	Disorder of cholesterol catabolism	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Cholestanol storage disease	Is a	Autosomal recessive hereditary disorder	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Cholestanol storage disease	Associated morphology	Myelin sheath alteration	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Cholestanol storage disease	Finding site	Myelinated nerve fiber structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Cholestanol storage disease	Associated morphology	Dystrophy	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2
Cholestanol storage disease	Finding site	White matter structure of brain and spinal cord (body structure)	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2
Cholestanol storage disease	Associated morphology	Xanthomatous deposition	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	3
Cholestanol storage disease	Finding site	Body organ structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	3
Cholestanol storage disease	Occurrence	Congenital	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	4
Cholestanol storage disease	Finding site	Liver structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

US English

Congenital syphilitic hepatomegaly

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