50967008: gangliosidose (aandoening)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\...

\Inherited metabolic disorder of nervous system\Gangliosidosis

\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis

\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis

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

\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis
\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis

\Disorder of lysosomal enzyme\Gangliosidosis

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis
\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Gangliosidosis
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Gangliosidosis
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Gangliosidosis

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

84935014 Gangliosidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
84936010 Gangliosidosis, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
84937018 Ganglioside storage disease, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
84938011 Ganglioside accumulation in nervous tissue lysosomes en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
84939015 Ganglioside storage disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
788813018 Gangliosidosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
55641000146113 gangliosidose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
935051000146114 gangliosidose (aandoening) nl Fully specified name 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
Gangliosidosis	Is a	Disorder of lysosomal enzyme	true	Inferred relationship	Some
Gangliosidosis	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Gangliosidosis	Is a	Disorder of lipid storage and metabolism	true	Inferred relationship	Some
Gangliosidosis	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	2
Gangliosidosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Gangliosidosis	Is a	Lysosomal storage disease (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
GM1 gangliosidosis	Is a	True	Gangliosidosis	Inferred relationship	Some
Ganglioside sialidase deficiency	Is a	False	Gangliosidosis	Inferred relationship	Some
GM>1< gangliosidosis	Is a	False	Gangliosidosis	Inferred relationship	Some
GM2 gangliosidosis (disorder)	Is a	True	Gangliosidosis	Inferred relationship	Some

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

Description inactivation indicator reference set