14210003: lipofuscinose (aandoening)

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

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

\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipofuscinosis
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipofuscinosis

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

24174013 Lipofuscinosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
24175014 Lipofuscinosis, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
740174017 Lipofuscinosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6049811000146112 lipofuscinose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6049821000146119 lipofuscinose (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6049831000146117 lipofuscinosis 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
Lipofuscinosis	Is a	Disorder of lipoprotein AND/OR lipid metabolism	true	Inferred relationship	Some
Lipofuscinosis	Is a	Disorder of lysosomal enzyme	true	Inferred relationship	Some
Lipofuscinosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Lipofuscinosis	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Intestinal lipofuscinosis	Is a	True	Lipofuscinosis	Inferred relationship	Some
Neuronal ceroid lipofuscinosis	Is a	True	Lipofuscinosis	Inferred relationship	Some
Lipofuscinosis NEC	Is a	False	Lipofuscinosis	Inferred relationship	Some
Lipofuscinosis NOS	Is a	False	Lipofuscinosis	Inferred relationship	Some

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

Description inactivation indicator reference set