82500001: Wolman's disease (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\...

\Inborn error of metabolism\Lysosomal acid lipase deficiency\Wolman's disease

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lysosomal acid lipase deficiency\Wolman's disease

\trouble métabolique\Inborn error of metabolism\Lysosomal acid lipase deficiency\Wolman's disease
\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of lipid storage and metabolism\Lysosomal acid lipase deficiency\Wolman's disease

\Congenital disease\Inborn error of metabolism\Lysosomal acid lipase deficiency\Wolman's disease

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

Descriptions:

Id Description Lang Type Status Case? Module

136837016 Wolman's disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
136838014 Primary familial xanthomatosis with adrenal calcification en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
136839018 Familial visceral xanthomatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
136840016 LIPA deficiency en Synonym (core metadata concept) Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
136841017 Deficiency of cholesterol esterase and triacylglycerol lipase en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
136842012 Lysosomal acid lipase deficiency en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
136843019 Deficiency of cholesterol esterase AND triacylglycerol lipase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
201017015 Wolman xanthomatosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
201018013 Primary familial xanthomatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
505109013 Wolman disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
505110015 Acid esterase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
505111016 Acid lipase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
823935018 Wolman's disease (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Wolman's disease	est un(e) (attribut)	Inborn error of metabolism	false	Inferred relationship	Some
Wolman's disease	est un(e) (attribut)	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Wolman's disease	est un(e) (attribut)	Disorder of lipid storage and metabolism	false	Inferred relationship	Some
Wolman's disease	est un(e) (attribut)	Lysosomal acid lipase deficiency	true	Inferred relationship	Some
Wolman's disease	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
Wolman's disease	survenue (attribut)	congénital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
maladie de stockage des esters du cholestérol (trouble)	est un(e) (attribut)	False	Wolman's disease	Inferred relationship	Some

This concept is not in any reference sets