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82500001: Wolman's disease (disorder)


Status: current, Necessary but not sufficient concept definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
136837016 Wolman's disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
136838014 Primary familial xanthomatosis with adrenal calcification en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
136839018 Familial visceral xanthomatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
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 GB English: Acceptable (foundation metadata concept)
201017015 Wolman xanthomatosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
201018013 Primary familial xanthomatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
505109013 Wolman disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
505110015 Acid esterase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
505111016 Acid lipase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
823935018 Wolman's disease (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

0 descendants.

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
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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