65419005: Sitosterolemia with xanthomatosis (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\Sitosterolemia with xanthomatosis

\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Metabolic and nutritional disorders affecting skin\Xanthomatosis\Sitosterolemia with xanthomatosis
\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\Sitosterolemia with xanthomatosis

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Sitosterolemia with xanthomatosis
\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\Sitosterolemia with xanthomatosis
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Metabolic and nutritional disorders affecting skin\Xanthomatosis\Sitosterolemia with xanthomatosis

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Sitosterolemia with xanthomatosis
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Storage disease\maladie familiale avec stockage des stérols (autres que le cholestérol)\Sitosterolemia with xanthomatosis
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sitosterolemia with xanthomatosis
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Sitosterolemia with xanthomatosis
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Sitosterolemia with xanthomatosis
\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\Sitosterolemia with xanthomatosis
\Disease\Familial disease\maladie familiale avec stockage des stérols (autres que le cholestérol)\Sitosterolemia with xanthomatosis
\Disease\trouble métabolique\Inborn error of metabolism\Storage disease\maladie familiale avec stockage des stérols (autres que le cholestérol)\Sitosterolemia with xanthomatosis
\Disease\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\troubles du stockage et du métabolisme des lipoprotéines\Sitosterolemia\Sitosterolemia with xanthomatosis
\Disease\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\troubles du stockage et du métabolisme des lipoprotéines\maladie familiale avec stockage des stérols (autres que le cholestérol)\Sitosterolemia with xanthomatosis
\Disease\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of lipid storage and metabolism\Xanthomatosis\Sitosterolemia with xanthomatosis
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\maladie familiale avec stockage des stérols (autres que le cholestérol)\Sitosterolemia with xanthomatosis
\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\Sitosterolemia with xanthomatosis

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
Sitosterolemia with xanthomatosis	est un(e) (attribut)	Hereditary disorder of the integument	true	Inferred relationship	Some
Sitosterolemia with xanthomatosis	est un(e) (attribut)	Congenital anomaly of integument	false	Inferred relationship	Some
Sitosterolemia with xanthomatosis	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Sitosterolemia with xanthomatosis	est un(e) (attribut)	Xanthomatosis	true	Inferred relationship	Some
Sitosterolemia with xanthomatosis	est un(e) (attribut)	maladie familiale avec stockage des stérols (autres que le cholestérol)	true	Inferred relationship	Some
Sitosterolemia with xanthomatosis	est un(e) (attribut)	Sitosterolemia	true	Inferred relationship	Some
Sitosterolemia with xanthomatosis	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Sitosterolemia with xanthomatosis	localisation d'une constatation (attribut)	structure de la peau	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
108692016	Sitosterolemia with xanthomatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
108693014	beta-Sitosterolemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
108694015	Sitosterolemic xanthomatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
500112014	Sitosterolaemic xanthomatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
500113016	Beta-sitosterolaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
500114010	Sitosterolaemia with xanthomatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
804920018	Sitosterolemia with xanthomatosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core