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63246000: Cholestanol storage disease (disorder)

SNOMED CT Concept\constatation clinique\...

\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Metabolic and nutritional disorders affecting skin\Xanthomatosis\Cholestanol storage disease

\Viscus structure finding (finding)\constatation à propos d'un organe abdominal\constatation à propos du foie\affection du foie\troubles métaboliques et génétiques affectant le foie\défaut de synthèse des acides biliaires\Cholestanol storage disease

\Digestive system finding (finding)\constatation à propos du foie\affection du foie\troubles métaboliques et génétiques affectant le foie\défaut de synthèse des acides biliaires\Cholestanol storage disease
\Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\défaut de synthèse des acides biliaires\Cholestanol storage disease
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\affection du foie\troubles métaboliques et génétiques affectant le foie\défaut de synthèse des acides biliaires\Cholestanol storage disease

\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Metabolic and nutritional disorders affecting skin\Xanthomatosis\Cholestanol storage disease
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Metabolic and nutritional disorders affecting skin\Xanthomatosis\Cholestanol storage disease

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Cholestanol storage disease
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Metabolic and nutritional disorders affecting skin\Xanthomatosis\Cholestanol storage disease
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Metabolic and nutritional disorders affecting skin\Xanthomatosis\Cholestanol storage disease

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Cholestanol storage disease
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\défaut de synthèse des acides biliaires\Cholestanol storage disease
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\défaut de synthèse des acides biliaires\Cholestanol storage disease
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cholestanol storage disease
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Cholestanol storage disease
\Disease\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\défaut de synthèse des acides biliaires\Cholestanol storage disease
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Cholestanol storage disease
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Metabolic and nutritional disorders affecting skin\Xanthomatosis\Cholestanol storage disease
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\défaut de synthèse des acides biliaires\Cholestanol storage disease
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\affection du foie\troubles métaboliques et génétiques affectant le foie\défaut de synthèse des acides biliaires\Cholestanol storage disease
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\affection du foie\troubles métaboliques et génétiques affectant le foie\défaut de synthèse des acides biliaires\Cholestanol storage disease
\Disease\trouble métabolique\troubles métaboliques et génétiques affectant le foie\défaut de synthèse des acides biliaires\Cholestanol storage disease
\Disease\trouble métabolique\Inborn error of metabolism\défaut de synthèse des acides biliaires\Cholestanol storage disease
\Disease\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of lipid metabolism\défaut de synthèse des acides biliaires\Cholestanol storage disease
\Disease\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of lipid metabolism\Disorder of cholesterol metabolism\Disorder of cholesterol catabolism\Cholestanol storage disease
\Disease\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of lipid storage and metabolism\Disorder of cholesterol catabolism\Cholestanol storage disease
\Disease\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of lipid storage and metabolism\Xanthomatosis\Cholestanol storage disease
\Disease\Congenital disease\Inborn error of metabolism\défaut de synthèse des acides biliaires\Cholestanol storage disease
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Metabolic and nutritional disorders affecting skin\Xanthomatosis\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	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Cholestanol storage disease	localisation d'une constatation (attribut)	foie	true	Inferred relationship	Some	3
Cholestanol storage disease	est un(e) (attribut)	Congenital anomaly of integument	false	Inferred relationship	Some
Cholestanol storage disease	est un(e) (attribut)	Hereditary disorder of the integument	true	Inferred relationship	Some
Cholestanol storage disease	est un(e) (attribut)	Xanthomatosis	true	Inferred relationship	Some
Cholestanol storage disease	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Cholestanol storage disease	est un(e) (attribut)	maladie familiale avec stockage des stérols (autres que le cholestérol)	false	Inferred relationship	Some
Cholestanol storage disease	est un(e) (attribut)	Disorder of cholesterol catabolism	true	Inferred relationship	Some
Cholestanol storage disease	est un(e) (attribut)	défaut de synthèse des acides biliaires	true	Inferred relationship	Some
Cholestanol storage disease	est un(e) (attribut)	Digestive system hereditary disorder	false	Inferred relationship	Some
Cholestanol storage disease	localisation d'une constatation (attribut)	foie	false	Inferred relationship	Some	1
Cholestanol storage disease	survenue (attribut)	congénital	false	Inferred relationship	Some
Cholestanol storage disease	localisation d'une constatation (attribut)	structure de la peau	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 (disorder)	Due to	False	Cholestanol storage disease	Inferred relationship	Some	3
Ataxia co-occurrent and due to cerebrotendinous xanthomatosis (disorder)	est un(e) (attribut)	False	Cholestanol storage disease	Inferred relationship	Some

This concept is not in any reference sets

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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