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63246000: cholestanolstapelingsziekte (aandoening)

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

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

\Digestive system finding (finding)\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)\Cholestanol storage disease
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Synthetic defect of bile acids (disorder)\Cholestanol storage disease
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)\Cholestanol storage disease
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Synthetic defect of bile acids (disorder)\Cholestanol storage disease

\Neurological lesion\Leucodystrophy\Cholestanol storage disease

\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\...

\Leucodystrophy\Cholestanol storage disease

\Hereditary degenerative disease of central nervous system\Cholestanol storage disease

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids (disorder)\Cholestanol storage disease
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Cholestanol storage disease
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Cholestanol storage disease
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Cholestanol storage disease
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Synthetic defect of bile acids (disorder)\Cholestanol storage disease
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cholestanol storage disease
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Synthetic defect of bile acids (disorder)\Cholestanol storage disease
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Cholestanol storage disease
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Synthetic defect of bile acids (disorder)\Cholestanol storage disease
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Cholestanol storage disease
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Cholestanol storage disease
\Disease\Degenerative disorder\Xanthomatosis\Cholestanol storage disease
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Cholestanol storage disease
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Cholestanol storage disease
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Synthetic defect of bile acids (disorder)\Cholestanol storage disease
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leucodystrophy\Cholestanol storage disease
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Cholestanol storage disease
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Cholestanol storage disease
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy\Cholestanol storage disease
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Cholestanol storage disease
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Synthetic defect of bile acids (disorder)\Cholestanol storage disease
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)\Cholestanol storage disease
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Synthetic defect of bile acids (disorder)\Cholestanol storage disease
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)\Cholestanol storage disease
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids (disorder)\Cholestanol storage disease
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Cholestanol storage disease
\Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)\Cholestanol storage disease
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid metabolism\Synthetic defect of bile acids (disorder)\Cholestanol storage disease
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid metabolism\Disorder of cholesterol metabolism (disorder)\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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
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	Occurrence	Congenital	false	Inferred relationship	Some
Cholestanol storage disease	Finding site	Skin structure	false	Inferred relationship	Some	2
Cholestanol storage disease	Is a	Congenital anomaly of integument	false	Inferred relationship	Some
Cholestanol storage disease	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Cholestanol storage disease	Is a	Synthetic defect of bile acids (disorder)	true	Inferred relationship	Some
Cholestanol storage disease	Is a	Digestive system hereditary disorder (disorder)	false	Inferred relationship	Some
Cholestanol storage disease	Finding site	Liver structure	false	Inferred relationship	Some
Cholestanol storage disease	Occurrence	Congenital	false	Inferred relationship	Some	1
Cholestanol storage disease	Finding site	Liver structure	true	Inferred relationship	Some	3
Cholestanol storage disease	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Cholestanol storage disease	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Cholestanol storage disease	Is a	Leucodystrophy	true	Inferred relationship	Some
Cholestanol storage disease	Finding site	Myelinated nerve fiber structure	false	Inferred relationship	Some	4
Cholestanol storage disease	Associated morphology	Myelin sheath alteration	false	Inferred relationship	Some	4
Cholestanol storage disease	Finding site	White matter structure of brain and spinal cord (body structure)	false	Inferred relationship	Some	5
Cholestanol storage disease	Associated morphology	Dystrophy	false	Inferred relationship	Some	5
Cholestanol storage disease	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Some	1
Cholestanol storage disease	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	1
Cholestanol storage disease	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Some	2
Cholestanol storage disease	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Cholestanol storage disease	Occurrence	Congenital	true	Inferred relationship	Some	4
Cholestanol storage disease	Finding site	Body organ structure	true	Inferred relationship	Some	5
Cholestanol storage disease	Associated morphology	Xanthomatous deposition	true	Inferred relationship	Some	5
Cholestanol storage disease	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
ataxie gelijktijdig met en door cerebrotendineuze xanthomatose	Due to	False	Cholestanol storage disease	Inferred relationship	Some	3
ataxie gelijktijdig met en door cerebrotendineuze xanthomatose	Is a	False	Cholestanol storage disease	Inferred relationship	Some
Ataxia due to cerebrotendinous xanthomatosis	Due to	True	Cholestanol storage disease	Inferred relationship	Some	1

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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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
686811000146118	cholestanolstapelingsziekte (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
686821000146111	cholestanolstapelingsziekte	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)