Galactosialidosis

Preferred Label : Galactosialidosis;

NCIt synonyms : GSL; Neuraminidase Deficiency with Beta-Galactosidase Deficiency; Goldberg Syndrome;

NCIt definition : An autosomal recessive lysosomal storage disease caused by mutation(s) in the CTSA gene, encoding lysosomal protective protein. It is characterized by a combined deficiency of neuraminidase and beta-galactosidase.;

Details

Origin ID

C129928;

UMLS CUI

C0268233;

Automatic exact mappings (from CISMeF team)
- Galactosialidosis [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Combined deficiency of sialidase AND beta galactosidase (disorder) [SNOMED CT concept]
- Galactosialidosis [ICD-11 More detail]
- Galactosialidosis [ORDO Disease]
- Galactosialidosis [OMIM Phenotype]
- Neuraminidase deficiency with beta-galactosidase deficiency [MeSH concept]
- combined deficiency of sialidase and beta galactosidase [SNOMED Notion]
- galactosialidosis [DO Concept]
- galactosialidosis [Disease (Nov.)]
- neuraminidase deficiency with beta-galactosidase deficiency [MeSH Supplementary Concept]
See also inter- (CISMeF)
- cathepsin A [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined deficiency of sialidase AND beta galactosidase (disorder) [SNOMED CT concept]
- Galactosialidosis [ORDO Disease]
- Galactosialidosis [OMIM Phenotype]
- Galactosialidosis [ICD-11 More detail]
- Galactosialidosis [MedDRA Preferred Term]
- Neuraminidase deficiency with beta-galactosidase deficiency [MeSH concept]
- combined deficiency of sialidase and beta galactosidase [SNOMED Notion]
- galactosialidosis [Disease (Nov.)]
- galactosialidosis [DO Concept]
- neuraminidase deficiency with beta-galactosidase deficiency [MeSH Supplementary 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
- CTSA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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