28821000119102: lysosomale stapelingsziekte (aandoening)

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 (disorder)\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

14500111000146112 lysosomale stapelingsziekte (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14500121000146119 lysosomale stapelingsziekte nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lysosomal storage disease (disorder)	Is a	Storage disease	true	Inferred relationship	Some
Lysosomal storage disease (disorder)	Is a	Enzymopathy	true	Inferred relationship	Some
Lysosomal storage disease (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dilated cardiomyopathy due to lysosomal storage disease (disorder)	Due to	True	Lysosomal storage disease (disorder)	Inferred relationship	Some	2
Mucopolysaccharidosis	Is a	True	Lysosomal storage disease (disorder)	Inferred relationship	Some
Mucolipidosis	Is a	True	Lysosomal storage disease (disorder)	Inferred relationship	Some
Gangliosidosis	Is a	True	Lysosomal storage disease (disorder)	Inferred relationship	Some
Neuronal ceroid lipofuscinosis	Is a	True	Lysosomal storage disease (disorder)	Inferred relationship	Some
Cystinosis (disorder)	Is a	True	Lysosomal storage disease (disorder)	Inferred relationship	Some
Sphingolipidosis	Is a	True	Lysosomal storage disease (disorder)	Inferred relationship	Some
Disorder of sialic acid metabolism	Is a	True	Lysosomal storage disease (disorder)	Inferred relationship	Some
Danon disease	Is a	True	Lysosomal storage disease (disorder)	Inferred relationship	Some
Lysosomal acid lipase deficiency	Is a	True	Lysosomal storage disease (disorder)	Inferred relationship	Some
Oligosaccharidosis (disorder)	Is a	True	Lysosomal storage disease (disorder)	Inferred relationship	Some
Family history of lysosomal storage disease (situation)	Associated finding	True	Lysosomal storage disease (disorder)	Inferred relationship	Some	1

This concept is not in any reference sets