OMOP Concept 4262271
Combined deficiency of sialidase AND beta galactosidase
StandardConditionSNOMED35691006Disorder
Maps from
2
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
2 source codes normalize to Combined deficiency of sialidase AND beta galactosidase via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 120311 | Combined Deficiency of Sialidase and Beta Galactosidase | Non-standard |
| MeSH | C536411 | Neuraminidase deficiency with beta-galactosidase deficiency | Non-standard |
Synonyms
Alternative names recorded for Combined deficiency of sialidase AND beta galactosidase across source vocabularies.
- Combined deficiency of neuroaminidase and beta galactosidase
- Combined deficiency of sialidase AND beta galactosidase (disorder)
- deficiencia combinada de sialidasa y beta galactosidasa
- deficiencia combinada de sialidasa y beta galactosidasa (trastorno)
- deficiencia de neuraminidasa con deficiencia de beta galactosidasa
- galactosialidosis
- Galactosialidosis
- Goldberg syndrome
- GSL - Galactosialidosis
- Neuraminidase deficiency with beta-galactosidase deficiency
- Protective protein deficiency
- síndrome de Goldberg
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(60)Roll up to these when you need a wider cohort.
- 1Developmental hereditary disorder
- 1Disorder of macula of retina
- 1Dysostosis multiplex group
- 1Hereditary disorder of musculoskeletal system
- 1Hereditary disorder of the visual system
- 1Inherited metabolic disorder of nervous system
- 1Multiple malformation syndrome with facial defects as major feature
- 1Oligosaccharidosis
- 2Congenital anomaly of face
- 2Congenital anomaly of skeletal bone
- 2Developmental disorder
- 2Disorder of glycoprotein metabolism
- 2Disorder of lysosomal enzyme
- 2Disorder of musculoskeletal system
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Hereditary disorder of nervous system
- 2Inborn error of metabolism
- 2Lesion of bone
- 2Lysosomal storage disease
- 2Macula finding
- 2Metabolic bone disease
- 2Multiple system malformation syndrome
- 2Retinal disorder
- 2Skeletal dysplasia
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