OMOP Concept 4079873
GM1 gangliosidosis
StandardConditionSNOMED238025006Disorder
Maps from
3
Descendants
3
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
3 source codes normalize to GM1 gangliosidosis via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 139354 | Gm>1< gangliosidosis | Non-standard |
| HPO | HP_0008166 | Decreased beta-galactosidase activity | Non-standard |
| MeSH | D016537 | Gangliosidosis, GM1 | Non-standard |
Synonyms
Alternative names recorded for GM1 gangliosidosis across source vocabularies.
- deficiencia de beta-galactosidasa
- gangliosidosis GM1
- gangliosidosis GM1 (trastorno)
- GM1 gangliosidosis (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(40)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Developmental hereditary disorder
- 1Dysostosis multiplex group
- 1Gangliosidosis
- 1Hereditary disorder of musculoskeletal system
- 2Autosomal hereditary disorder
- 2Congenital anomaly of skeletal bone
- 2Developmental disorder
- 2Disorder of lipid storage and metabolism
- 2Disorder of lysosomal enzyme
- 2Disorder of musculoskeletal system
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Inherited metabolic disorder of nervous system
- 2Lesion of bone
- 2Lysosomal storage disease
- 2Metabolic bone disease
- 2Skeletal dysplasia
- 3Congenital anomaly of musculoskeletal system
- 3Congenital disease
- 3Disease
- 3Disorder of body system
- 3Disorder of bone
- 3Disorder of bone development
- 3Disorder of lipoprotein AND/OR lipid metabolism
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Narrower concepts
(3)Included automatically when you query with descendants.
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