238028008: sfingolipidose (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)\Sphingolipidosis

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

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Sphingolipidosis
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Sphingolipidosis

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

356771012 Sphingolipidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626850015 Sphingolipidosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

55651000146111 sfingolipidose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

961811000146114 sfingolipidose (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

2094591000146114 sphingolipidosis nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13084641000146112 Stofwisselingsziekten gekenmerkt door een aangeboren gebrek aan een van de enzymen die nodig zijn voor de afbraak van een sfingolipide, waardoor deze opgehoopt wordt in allerlei organen, waardoor hun functie belemmerd wordt of geheel uitvalt. 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
Sphingolipidosis	Is a	Disorder of lipid storage and metabolism	true	Inferred relationship	Some
Sphingolipidosis	Finding site	Body system structure	false	Inferred relationship	Some
Sphingolipidosis	Occurrence	Congenital	false	Inferred relationship	Some
Sphingolipidosis	Is a	Lysosomal storage disease (disorder)	true	Inferred relationship	Some
Sphingolipidosis	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Gaucher's disease	Is a	True	Sphingolipidosis	Inferred relationship	Some
Galactosylceramide beta-galactosidase deficiency	Is a	True	Sphingolipidosis	Inferred relationship	Some
Metachromatic leucodystrophy	Is a	False	Sphingolipidosis	Inferred relationship	Some
Galactocerebroside beta-galactosidase deficiency - early onset	Is a	False	Sphingolipidosis	Inferred relationship	Some
Fabry's disease	Is a	True	Sphingolipidosis	Inferred relationship	Some
Globoid cell leukodystrophy, late-onset	Is a	False	Sphingolipidosis	Inferred relationship	Some
Multiple sulfatase deficiency	Is a	True	Sphingolipidosis	Inferred relationship	Some
Sphingomyelin/cholesterol lipidosis	Is a	True	Sphingolipidosis	Inferred relationship	Some
Metachromatic leucodystrophy (disorder)	Is a	True	Sphingolipidosis	Inferred relationship	Some
Encephalopathy due to prosaposin deficiency (disorder)	Is a	True	Sphingolipidosis	Inferred relationship	Some
Autosomal recessive cerebellar ataxia with late-onset spasticity	Is a	True	Sphingolipidosis	Inferred relationship	Some

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)