82500001: Wolman's disease (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\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

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Lysosomal acid lipase deficiency\Wolman's disease
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Lysosomal acid lipase deficiency\Wolman's disease

\Congenital disease (disorder)\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
4659451000241110 forme grave de déficit en lipase acide lysosomale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Wolman's disease	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Wolman's disease	Is a	Disorder of lipid storage and metabolism	false	Inferred relationship	Some
Wolman's disease	Finding site	Body system structure	false	Inferred relationship	Some
Wolman's disease	Occurrence	Congenital	true	Inferred relationship	Some	1
Wolman's disease	Is a	Inborn error of metabolism	false	Inferred relationship	Some
Wolman's disease	Is a	Lysosomal acid lipase deficiency	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cholesterol ester storage disease	Is a	False	Wolman's disease	Inferred relationship	Some

This concept is not in any reference sets