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715923003: Lysosomal acid lipase deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3304163017 LAL (Lysosomal acid lipase) deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3304164011 Lysosomal acid lipase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304165012 Lysosomal acid lipase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305279019 LALD - Lysosomal acid lipase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Lysosomal acid lipase deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Lysosomal acid lipase deficiency Is a Inborn error of metabolism false Inferred relationship Some
Lysosomal acid lipase deficiency Is a Disorder of lipid storage and metabolism true Inferred relationship Some
Lysosomal acid lipase deficiency Occurrence Congenital true Inferred relationship Some 1
Lysosomal acid lipase deficiency Is a Lysosomal storage disease (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Cholesterol ester storage disease Is a True Lysosomal acid lipase deficiency Inferred relationship Some
Wolman's disease Is a True Lysosomal acid lipase deficiency Inferred relationship Some

This concept is not in any reference sets

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