OMOP Concept 4079874
Sphingolipidosis
StandardConditionSNOMED238028008Disorder
Maps from
24
Descendants
34
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
24 source codes normalize to Sphingolipidosis via the OMOP "Maps to" relationship.
Synonyms
Alternative names recorded for Sphingolipidosis across source vocabularies.
- esfingolipoidosis
- esfingolipoidosis (trastorno)
- Sphingolipidosis (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(14)Roll up to these when you need a wider cohort.
- 1Disorder of lipid storage and metabolism
- 1Lysosomal storage disease
- 2Disorder of lipoprotein AND/OR lipid metabolism
- 2Enzymopathy
- 2Storage disease
- 3Inborn error of metabolism
- 3Metabolic disease
- 4Congenital disease
- 4Disease
- 4Hereditary metabolic disease
- 5Clinical finding
- 5Fetal and/or neonatal disorder
- 5Hereditary disease
- 6Genetic disease
Narrower concepts
(34)Included automatically when you query with descendants.
- 1Autosomal recessive cerebellar ataxia with late-onset spasticity
- 1Encephalopathy due to prosaposin deficiency
- 1Fabry's disease
- 1Galactosylceramide beta-galactosidase deficiency
- 1Gaucher's disease
- 1Metachromatic leukodystrophy
- 1Multiple sulfatase deficiency
- 1Sphingomyelin/cholesterol lipidosis
- 2Acute neuronopathic Gaucher's disease
- 2Arylsulfatase A deficiency
- 2Atypical Gaucher disease due to saposin C deficiency
- 2Chronic neurovisceral acid sphingomyelinase deficiency
- 2Chronic non-neuropathic Gaucher's disease
- 2Dystonia due to metachromatic leucodystrophy
- 2Galactocerebroside beta-galactosidase deficiency - early onset
- 2Globoid cell leukodystrophy, late-onset
- 2Metachromatic leukodystrophy, adult type
- 2Metachromatic leukodystrophy, congenital type
- 2Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator
- 2Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency
- 2Metachromatic leukodystrophy, juvenile type
- 2Metachromatic leukodystrophy, late infantile type
- 2Metachromatic leukodystrophy without arylsulfatase deficiency
- 2Niemann-Pick disease, type A
- 2Niemann-Pick disease, type B
Showing 25 of 34. Retrieve the full set via the API.
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