82500001: Wolman's disease (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\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\Storage disease\Lysosomal storage disease (disorder)\Lysosomal acid lipase deficiency\Wolman's disease
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\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\Storage disease\Lysosomal storage disease (disorder)\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:

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

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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
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
7769871000172118	forme grave de déficit en LAL-D (déficit en lipase acide lysosomale)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7769881000172115	maladie de Wolman	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7769891000172117	forme grave de déficit en lipase acide lysosomale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4891671000172114	LAL-D	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4891681000172112	deficiëntie van lysosomale zure lipase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4891691000172110	deficiëntie van 'lysosomal acid lipase'	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4891701000172110	ziekte van Wolman	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)