715923003: déficit en lipase acide lysosomale (trouble)

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

\Genetic disease\maladie héréditaire\...

\Inborn error of metabolism\Lysosomal acid lipase deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lysosomal acid lipase deficiency

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

\Congenital disease\Inborn error of metabolism\Lysosomal acid lipase deficiency

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

748951000241111 déficit en lipase acide lysosomale (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

974341000172119 déficit en lipase acide lysosomale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

982171000172110 déficit en LAL(lipase acide lysosomale) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lysosomal acid lipase deficiency	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Lysosomal acid lipase deficiency	est un(e) (attribut)	Inborn error of metabolism	true	Inferred relationship	Some
Lysosomal acid lipase deficiency	est un(e) (attribut)	Disorder of lipid storage and metabolism	true	Inferred relationship	Some
Lysosomal acid lipase deficiency	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)	True	Lysosomal acid lipase deficiency	Inferred relationship	Some
Wolman's disease	est un(e) (attribut)	True	Lysosomal acid lipase deficiency	Inferred relationship	Some

Reference Sets

Canada English language reference set (foundation metadata concept)