OMOP Concept 4283682
Niemann-Pick disease, type C
StandardConditionSNOMED66751000Disorder
Maps from
3
Descendants
3
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
3 source codes normalize to Niemann-Pick disease, type C via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 133035 | Niemann-Pick disease, type C | Non-standard |
| ICD10CM | E75.242 | Niemann-Pick disease type C | Non-standard |
| MeSH | D052556 | Niemann-Pick Disease, Type C | Non-standard |
Synonyms
Alternative names recorded for Niemann-Pick disease, type C across source vocabularies.
- enfermedad de Niemann - Pick, tipo C
- enfermedad de Niemann - Pick, tipo C (trastorno)
- Niemann-Pick disease type C
- Niemann-Pick disease, type C (disorder)
- Supraoptic vertical ophthalmoplegia
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(21)Roll up to these when you need a wider cohort.
- 1Sphingomyelin/cholesterol lipidosis
- 2Autosomal recessive hereditary disorder
- 2Lipid storage disease
- 2Lipoidosis
- 2Sphingolipidosis
- 3Autosomal hereditary disorder
- 3Disorder of lipid storage and metabolism
- 3Disorder of lysosomal enzyme
- 3Inborn error of metabolism
- 3Lysosomal storage disease
- 4Congenital disease
- 4Disorder of lipoprotein AND/OR lipid metabolism
- 4Enzymopathy
- 4Hereditary disease
- 4Hereditary metabolic disease
- 4Storage disease
- 5Fetal and/or neonatal disorder
- 5Genetic disease
- 5Metabolic disease
- 6Disease
- 7Clinical finding
Narrower concepts
(3)Included automatically when you query with descendants.
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