715923003: Lysosomal acid lipase deficiency (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

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

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Lysosomal acid lipase deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Lysosomal acid lipase deficiency
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Lysosomal acid lipase deficiency
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and 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

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 Only initial character case insensitive (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 Only initial character 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

3428431001000116 Lysosomale saure Lipase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

974341000172119 déficit en lipase acide lysosomale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

982171000172110 déficit en LAL(lipase acide lysosomale) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

974341000172119 déficit en lipase acide lysosomale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

982171000172110 déficit en LAL(lipase acide lysosomale) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3428431001000116 Lysosomale saure Lipase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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	Existential restriction modifier (core metadata concept)
Lysosomal acid lipase deficiency	Is a	Inborn error of metabolism	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Lysosomal acid lipase deficiency	Is a	Disorder of lipid storage and metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Lysosomal acid lipase deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lysosomal acid lipase deficiency	Is a	Lysosomal storage disease (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cholesterol ester storage disease	Is a	True	Lysosomal acid lipase deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)
Wolman's disease	Is a	True	Lysosomal acid lipase deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

Description inactivation indicator reference set