238028008: Sphingolipidosis (disorder)

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\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

356771012 Sphingolipidosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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 Only initial character 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

3446461001000113 Sphingolipidose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

905151000172111 sphingolipidose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

905151000172111 sphingolipidose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3446461001000113 Sphingolipidose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Sphingolipidosis	Is a	Disorder of lipid storage and metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Sphingolipidosis	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Sphingolipidosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Sphingolipidosis	Is a	Lysosomal storage disease (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Sphingolipidosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Gaucher's disease	Is a	True	Sphingolipidosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Galactosylceramide beta-galactosidase deficiency	Is a	True	Sphingolipidosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Metachromatic leucodystrophy	Is a	False	Sphingolipidosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Galactocerebroside beta-galactosidase deficiency - early onset (disorder)	Is a	False	Sphingolipidosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Fabry's disease	Is a	True	Sphingolipidosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Globoid cell leukodystrophy, late-onset (disorder)	Is a	False	Sphingolipidosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Multiple sulfatase deficiency	Is a	True	Sphingolipidosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Sphingomyelin/cholesterol lipidosis (disorder)	Is a	True	Sphingolipidosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Metachromatic leukodystrophy	Is a	True	Sphingolipidosis	Inferred relationship	Existential restriction modifier (core metadata concept)
A lysosomal storage disease belonging to the group of sphingolipidoses.	Is a	True	Sphingolipidosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia with late-onset spasticity	Is a	True	Sphingolipidosis	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets