28821000119102: Lysosomal storage 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)

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

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5234012016 Lysosomal storage disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5234013014 Lysosomal storage disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5234012016 Lysosomal storage disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5234013014 Lysosomal storage disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lysosomal storage disease (disorder)	Is a	Storage disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Lysosomal storage disease (disorder)	Is a	Enzymopathy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Lysosomal storage disease (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dilated cardiomyopathy due to lysosomal storage disease	Due to	True	Lysosomal storage disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mucopolysaccharidosis	Is a	True	Lysosomal storage disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Mucolipidosis	Is a	True	Lysosomal storage disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Gangliosidosis (disorder)	Is a	True	Lysosomal storage disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Neuronal ceroid lipofuscinosis	Is a	True	Lysosomal storage disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Cystinosis	Is a	True	Lysosomal storage disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Sphingolipidosis	Is a	True	Lysosomal storage disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder of sialic acid metabolism	Is a	True	Lysosomal storage disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)	Is a	True	Lysosomal storage disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Lysosomal acid lipase deficiency	Is a	True	Lysosomal storage disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Oligosaccharidosis (disorder)	Is a	True	Lysosomal storage disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Family history of lysosomal storage disease	Associated finding	True	Lysosomal storage disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	1

This concept is not in any reference sets