23585005: lysosomale enzymafwijking (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Disorder of lysosomal enzyme

\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

39615010 Disorder of lysosomal enzyme en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

753122012 Disorder of lysosomal enzyme (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3037374014 Lysosomal enzyme defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3037615010 Lysosomal enzyme disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1531081000146111 lysosomale enzymafwijking (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

1531091000146113 lysosomale enzymafwijking nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12738891000146114 lysosomale stapelingsziekte nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12738881000146112 Stofwisselingsaandoeningen waarbij in een onderdeel van een cel (het lysosoom) stoffen niet afgebroken worden maar zich gaan ophopen. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Disorder of lysosomal enzyme	Is a	Storage disease	false	Inferred relationship	Some
Disorder of lysosomal enzyme	Is a	Enzymopathy	true	Inferred relationship	Some
Disorder of lysosomal enzyme	Finding site	Body system structure	false	Inferred relationship	Some
Disorder of lysosomal enzyme	Occurrence	Congenital	true	Inferred relationship	Some	1
Disorder of lysosomal enzyme	Is a	Congenital disease (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Lipid storage disease	Is a	True	Disorder of lysosomal enzyme	Inferred relationship	Some
Mucopolysaccharidosis	Is a	True	Disorder of lysosomal enzyme	Inferred relationship	Some
Dysostosis multiplex group	Is a	True	Disorder of lysosomal enzyme	Inferred relationship	Some
Lipofuscinosis	Is a	True	Disorder of lysosomal enzyme	Inferred relationship	Some
Gangliosidosis	Is a	True	Disorder of lysosomal enzyme	Inferred relationship	Some
Leukodystrophy	Is a	False	Disorder of lysosomal enzyme	Inferred relationship	Some
Multiple sulfatase deficiency	Is a	True	Disorder of lysosomal enzyme	Inferred relationship	Some
Arylsulfatase deficiency without metachromatic leukodystrophy (disorder)	Is a	True	Disorder of lysosomal enzyme	Inferred relationship	Some
Acid phosphatase deficiency	Is a	True	Disorder of lysosomal enzyme	Inferred relationship	Some
Deficiency of cerebroside-sulfatase	Is a	True	Disorder of lysosomal enzyme	Inferred relationship	Some
Mucolipidosis	Is a	True	Disorder of lysosomal enzyme	Inferred relationship	Some
Glycoprotein storage disorder	Is a	True	Disorder of lysosomal enzyme	Inferred relationship	Some
Pancreatic triacylglycerol lipase deficiency	Is a	True	Disorder of lysosomal enzyme	Inferred relationship	Some
Farber's lipogranulomatosis	Is a	True	Disorder of lysosomal enzyme	Inferred relationship	Some
Globoid cell leukodystrophy, late-onset	Is a	False	Disorder of lysosomal enzyme	Inferred relationship	Some
Pelizaeus-Merzbacher disease (disorder)	Is a	False	Disorder of lysosomal enzyme	Inferred relationship	Some
Hypertrophic cardiomyopathy due to lysosomal disease	Due to	True	Disorder of lysosomal enzyme	Inferred relationship	Some	2
Oligosaccharidosis (disorder)	Is a	True	Disorder of lysosomal enzyme	Inferred relationship	Some

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

Description inactivation indicator reference set