neuraminidase deficiency with beta-galactosidase deficiency

Preferred Label : neuraminidase deficiency with beta-galactosidase deficiency;

CISMeF synonym : neuraminidase/beta-galactosidase expression; ppca deficiency; protective protein/Cathepsin A deficiency;

MeSH synonym : galactosialidosis; lysosomal protective protein, deficiency of; cathepsin A, deficiency of; goldberg syndrome; cathepsin A deficiency; lysosomal protective protein deficiency; deficiency of cathepsin A; protective protein-Cathepsin A deficiency;

Details

Origin ID

C536411;

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 [NCIt concept]
- Galactosialidosis [ICD-11 More detail]
- Galactosialidosis [OMIM Phenotype]
- Galactosialidosis [ORDO Disease]
- combined deficiency of sialidase and beta galactosidase [SNOMED Notion]
- galactosialidosis [Disease (Nov.)]
- galactosialidosis [DO Concept]
MeSH term(s) associated for indexing
- lysosomal storage diseases [MeSH Descriptor]
ORDO relation(s)
- Galactosialidosis [ORDO Disease]
Record concept(s)
- Neuraminidase deficiency with beta-galactosidase deficiency [MeSH concept]
See also (suggested by CISMeF)
- beta-Galactosidase [MeSH Descriptor]
- neuraminidase [MeSH Descriptor]
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 [OMIM Phenotype]
- Galactosialidosis [ORDO Disease]
- Galactosialidosis [NCIt concept]
- Galactosialidosis [ICD-11 More detail]
- Galactosialidosis [MedDRA Preferred Term]
- combined deficiency of sialidase and beta galactosidase [SNOMED Notion]
- galactosialidosis [Disease (Nov.)]
- galactosialidosis [DO Concept]

Keyword's position in hierarchy(ies) :

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