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

\Fetal and/or neonatal disorder\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

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	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 sulphatase 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
A lysosomal storage disease belonging to the group of sphingolipidoses.	Is a	True	Sphingolipidosis	Inferred relationship	Some
A rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliosis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated.	Is a	True	Sphingolipidosis	Inferred relationship	Some

This concept is not in any reference sets