Sialic Acid Storage Disease

Preferred Label : Sialic Acid Storage Disease;

NCIt synonyms : Salla Disease;

NCIt definition : A rare, autosomal recessive lysosomal storage disease caused by mutations in the SLC17A5 gene. It primarily affects the nervous system. Signs and symptoms include developmental delay, intellectual disability, hypotonia, failure to thrive, seizures, and ataxia.;

Details

Origin ID

C85067;

UMLS CUI

C0342853;

Automatic exact mappings (from CISMeF team)
- Free sialic acid storage disease [ICD-11 More detail]
- Salla disease [MedDRA LLT]
- Salla disease [OMIM Phenotype]
- Salla disease [ORDO Disease]
- Salla disease (disorder) [SNOMED CT concept]
- salla disease [SNOMED Notion]
- salla disease [MeSH concept]
- solute carrier family 17 member 5 [HGNC gene]
Currated CISMeF NLP mapping
- Sialic acid storage disease [MedDRA LLT]
- Sialic storage disease (disorder) [SNOMED CT concept]
- Sialuria [OMIM Phenotype]
- Sialuria (disorder) [SNOMED CT concept]
- sialic acid storage disease [MeSH Descriptor]
- sialic acid storage disease [MeSH concept]
- sialic acid storage disorder [Disease (Nov.)]
DO Cross reference
- sialuria [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Sialic acid storage disease [MedDRA LLT]
- Sialuria [OMIM Phenotype]
- Sialuria (disorder) [SNOMED CT concept]
- sialic acid storage disease [MeSH concept]
- sialic acid storage disease [MeSH Descriptor]
- sialic acid storage disorder [Disease (Nov.)]
- sialuria [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SLC17A5 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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