sialic acid storage disease, severe infantile type

Preferred Label : sialic acid storage disease, severe infantile type;

Origin ID

D6-72642;

UMLS CUI

C1096902;

Currated CISMeF NLP mapping
- Sialic acid storage disease, severe infantile type (disorder) [SNOMED CT concept]
- Sialuria [ORDO Disease]
- Sialuria [OMIM Phenotype]
- Sialuria (disorder) [SNOMED CT concept]
- Sialuria, French type [MeSH concept]
- sialic acid storage disease [MeSH Descriptor]
- sialuria, french type [MeSH Supplementary Concept]
ICD-10 exact mapping(s)
- Defects in glycoprotein degradation [ICD-10 Sub-category (who)]
Metaterm(s)
- metabolism [CISMeF Metaterm]
SNOMED CT concept
- Sialic acid storage disease, severe infantile type (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Free sialic acid storage disease, infantile form [ORDO Disease]
- Infantile sialic acid storage disease [OMIM Phenotype]
- Sialic acid storage disease, severe infantile type (disorder) [SNOMED CT concept]
- infantile sialic acid storage disease [MeSH concept]