OMOP Concept 4242275
Sphingomyelin/cholesterol lipidosis
StandardConditionSNOMED58459009Disorder
Maps from
9
Descendants
7
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
9 source codes normalize to Sphingomyelin/cholesterol lipidosis via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 126212 | Sphingomyelin/Cholesterol Lipidosis | Non-standard |
| CIEL | 133030 | Niemann-Pick Disease, Type E | Non-standard |
| ICD10CM | E75.24 | Niemann-Pick disease | Non-standard |
| ICD10CM | E75.244 | Niemann-Pick disease type A/B | Non-standard |
| ICD10CM | E75.248 | Other Niemann-Pick disease | Non-standard |
| ICD10CM | E75.249 | Niemann-Pick disease, unspecified | Non-standard |
| MeSH | D009542 | Niemann-Pick Diseases | Non-standard |
| Nebraska Lexicon | 58459009 | Sphingomyelin/cholesterol lipidosis | Non-standard |
| Read | C327200 | Niemann-Pick disease | Non-standard |
Synonyms
Alternative names recorded for Sphingomyelin/cholesterol lipidosis across source vocabularies.
- enfermedad de Niemann-Pick
- esfingolipidosis
- lipidosis neuronal de colesterol
- lipidosis por almacenamiento de esfingomielina
- lipidosis por almacenamiento de esfingomielina/colesterol
- lipidosis por almacenamiento de esfingomielina/colesterol (trastorno)
- lipidosis por esfingomielina
- Neuronal cholesterol lipidosis
- Niemann-Pick disease
- Sphingomyelinase deficiency
- Sphingomyelin/cholesterol lipidosis (disorder)
- Sphingomyelin lipidosis
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(20)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Lipid storage disease
- 1Lipoidosis
- 1Sphingolipidosis
- 2Autosomal hereditary disorder
- 2Disorder of lipid storage and metabolism
- 2Disorder of lysosomal enzyme
- 2Lysosomal storage disease
- 3Congenital disease
- 3Disorder of lipoprotein AND/OR lipid metabolism
- 3Enzymopathy
- 3Hereditary disease
- 3Storage disease
- 4Disorder of fetus and/or newborn
- 4Genetic disease
- 4Inborn error of metabolism
- 4Metabolic disease
- 5Disease
- 5Hereditary metabolic disease
- 6Clinical finding
Narrower concepts
(7)Included automatically when you query with descendants.
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