OMOP Concept 4031810
Infantile GM1 gangliosidosis
StandardConditionSNOMED238026007Disorder
Maps from
2
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
2 source codes normalize to Infantile GM1 gangliosidosis via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 137544 | Generalised gangliosidosis | Non-standard |
| Nebraska Lexicon | 238026007 | Infantile gangliosidosis with bony involvement | Non-standard |
Synonyms
Alternative names recorded for Infantile GM1 gangliosidosis across source vocabularies.
- Deficiency of beta-galactosidase isoenzymes A, B AND C
- gangliosidosis generalizada
- gangliosidosis GM1 infantil
- gangliosidosis GM1 infantil (trastorno)
- gangliosidosis infantil con compromiso óseo
- Generalised gangliosidosis
- Generalized gangliosidosis
- GM>1< gangliosidosis, type 1
- GM1 gangliosidosis, type 1
- GM<sub>1</sub> gangliosidosis, type 1
- Infantile gangliosidosis with bony involvement
- Infantile GM>1< gangliosidosis
- Infantile GM1 gangliosidosis (disorder)
- Infantile GM<sub>1</sub> gangliosidosis
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(39)Roll up to these when you need a wider cohort.
- 1GM1 gangliosidosis
- 2Autosomal recessive hereditary disorder
- 2Developmental hereditary disorder
- 2Dysostosis multiplex group
- 2Gangliosidosis
- 2Hereditary disorder of musculoskeletal system
- 3Autosomal hereditary disorder
- 3Congenital anomaly of skeletal bone
- 3Developmental disorder
- 3Disorder of lipid storage and metabolism
- 3Disorder of lysosomal enzyme
- 3Disorder of musculoskeletal system
- 3Hereditary disease
- 3Hereditary disorder by system
- 3Inherited metabolic disorder of nervous system
- 3Lysosomal storage disease
- 3Metabolic bone disease
- 3Skeletal dysplasia
- 4Congenital anomaly of musculoskeletal system
- 4Congenital disease
- 4Disease
- 4Disorder of body system
- 4Disorder of bone
- 4Disorder of bone development
- 4Disorder of lipoprotein AND/OR lipid metabolism
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