OMOP Concept 4146367
Sialic acid storage disease, severe infantile type
StandardConditionSNOMED34566007Disorder
Maps from
3
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
Concept Lookup Tool
Search 11M+ concepts across SNOMED, RxNorm, ICD-10 & LOINC.
Source codes that map to this concept
3 source codes normalize to Sialic acid storage disease, severe infantile type via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 112976 | Sialic Acid Storage Disease, Severe Infantile Type | Non-standard |
| MeSH | C537332 | Sialuria, French type | Non-standard |
| Nebraska Lexicon | 34566007 | Sialic acid storage disease, severe infantile type | Non-standard |
Synonyms
Alternative names recorded for Sialic acid storage disease, severe infantile type across source vocabularies.
- enfermedad por almacenamiento de ácido siálico, forma infantil severa
- enfermedad por almacenamiento de ácido siálico, forma infantil severa (trastorno)
- Infantile sialic acid storage disease
- Sialic acid storage disease, severe infantile type (disorder)
- Sialuria, French type
- Sialuria, infantile type
- sialuria tipo francés
- sialuria tipo infantil
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(32)Roll up to these when you need a wider cohort.
- 1Sialic storage disease
- 2Developmental hereditary disorder
- 2Disorder of sialic acid metabolism
- 2Dysostosis multiplex group
- 2Hereditary disorder of musculoskeletal system
- 3Congenital anomaly of skeletal bone
- 3Developmental disorder
- 3Disorder of lysosomal enzyme
- 3Disorder of musculoskeletal system
- 3Hereditary disease
- 3Hereditary disorder by 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 skeletal system
- 4Enzymopathy
- 4Genetic disease
- 4Metabolic disease
- 4Musculoskeletal finding
Get this concept via the API
Resolve Sialic acid storage disease, severe infantile type - and every code that maps to it - over HTTPS, against the current vocabulary release. No downloads, no local database.
curl "https://api.omophub.com/v1/concepts/4146367?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card