OMOP Concept 4009170
Tay-Sachs disease
StandardConditionSNOMED111385000Disorder
Maps from
4
Descendants
6
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
4 source codes normalize to Tay-Sachs disease via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 112461 | Hexosaminidase A deficiency disease | Non-standard |
| ICD10CM | E75.02 | Tay-Sachs disease | Non-standard |
| MeSH | D013661 | Tay-Sachs Disease | Non-standard |
| OXMIS | 3330T | TAY- SACHS DISEASE | Non-standard |
Synonyms
Alternative names recorded for Tay-Sachs disease across source vocabularies.
- Amaurotic familial idiocy
- deficiencia severa de hexosaminidasa A
- enfermedad de Tay - Sachs
- enfermedad de Tay - Sachs (trastorno)
- enfermedad familiar amaurótica
- enfermedad familiar amaurótica infantil
- GM2 gangliosidosis, B, B1 variant
- Hexosaminidase A deficiency
- idiotez familiar amaurótica
- Infantile amaurotic familial disease
- Severe hexosaminidase A deficiency
- Tay-Sachs disease (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(24)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1GM2 gangliosidosis
- 2Autosomal hereditary disorder
- 2Gangliosidosis
- 3Disorder of lipid storage and metabolism
- 3Disorder of lysosomal enzyme
- 3Hereditary disease
- 3Inherited metabolic disorder of nervous system
- 3Lysosomal storage disease
- 4Congenital disease
- 4Disorder of lipoprotein AND/OR lipid metabolism
- 4Enzymopathy
- 4Genetic disease
- 4Hereditary disorder of nervous system
- 4Inborn error of metabolism
- 4Storage disease
- 5Disease
- 5Disorder of nervous system
- 5Fetal and/or neonatal disorder
- 5Hereditary disorder by system
- 5Hereditary metabolic disease
- 5Metabolic disease
- 6Clinical finding
- 6Disorder of body system
Narrower concepts
(6)Included automatically when you query with descendants.
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