OMOP Concept 4170931
Neuronal ceroid lipofuscinosis
StandardConditionSNOMED42012007Disorder
Maps from
10
Descendants
9
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
10 source codes normalize to Neuronal ceroid lipofuscinosis via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 133083 | Neuronal ceroid lipofuscinosis | Non-standard |
| CIM10 | E75.4 | Neuronal ceroid lipofuscinosis | Non-standard |
| ICD10 | E75.4 | Neuronal ceroid lipofuscinosis | Non-standard |
| ICD10CM | E75.4 | Neuronal ceroid lipofuscinosis | Non-standard |
| ICD10CN | E75.4 | Neuronal ceroid lipofuscinosis | Non-standard |
| ICD10CN | E75.400 | Neuronal ceroid lipofuscinosis | Non-standard |
| ICD10GM | E75.4 | Neuronal ceroid lipofuscinosis | Non-standard |
| KCD7 | E75.4 | Neuronal ceroid lipofuscinosis | Non-standard |
| MeSH | D009472 | Neuronal Ceroid-Lipofuscinoses | Non-standard |
| Nebraska Lexicon | 42012007 | Pigmentary retinal lipoid neuronal heredodegeneration | Non-standard |
Synonyms
Alternative names recorded for Neuronal ceroid lipofuscinosis across source vocabularies.
- Cerebromacular degeneration
- Cerebromacular dystrophy
- degeneración cerebromacular
- distrofia cerebromacular
- heredodegeneración neuronal lipoidea retiniana pigmentaria
- lipofuscinosis ceroide neuronal
- lipofuscinosis ceroide neuronal (trastorno)
- Neuronal ceroid lipofuscinosis (disorder)
- Pigmentary retinal lipoid neuronal heredodegeneration
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.
- 1Degenerative disorder
- 1Inherited metabolic disorder of nervous system
- 1Lipofuscinosis
- 1Lysosomal storage disease
- 2Disease
- 2Disorder of lipoprotein AND/OR lipid metabolism
- 2Disorder of lysosomal enzyme
- 2Enzymopathy
- 2Hereditary disorder of nervous system
- 2Inborn error of metabolism
- 2Storage disease
- 3Clinical finding
- 3Congenital disease
- 3Disorder of nervous system
- 3Hereditary disorder by system
- 3Hereditary metabolic disease
- 3Metabolic disease
- 4Disorder of body system
- 4Disorder of fetus and/or newborn
- 4Hereditary disease
- 5Genetic disease
Narrower concepts
(9)Included automatically when you query with descendants.
- 1Adult neuronal ceroid lipofuscinosis
- 1ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis
- 1Congenital neuronal ceroid lipofuscinosis
- 1Infantile neuronal ceroid lipofuscinosis
- 1Juvenile neuronal ceroid lipofuscinosis
- 1Neuronal ceroid lipofuscinosis 8
- 2Late-infantile neuronal ceroid lipofuscinosis
- 2Neuronal ceroid lipofuscinosis type 6A
- 2Progressive myoclonic epilepsy type 3
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