combined deficiency of sialidase and beta galactosidase - CISMeF

" /> combined deficiency of sialidase and beta galactosidase - CISMeF

CISMeF

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Combined deficiency of sialidase and beta galactosidaseSNOMED Notion

Preferred Label : combined deficiency of sialidase and beta galactosidase;

Details

Origin ID

D6-72630;

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 [NCIt concept]
- Galactosialidosis [ORDO Disease]
- Galactosialidosis [OMIM Phenotype]
- Neuraminidase deficiency with beta-galactosidase deficiency [MeSH concept]
- galactosialidosis [Disease (Nov.)]
- galactosialidosis [DO Concept]
- neuraminidase deficiency with beta-galactosidase deficiency [MeSH Supplementary Concept]
ICD-10 exact mapping(s)
- Defects in glycoprotein degradation [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Lysosomal storage disease with skeletal involvement [ORDO Disease]
- Metabolic disease with corneal opacity [ORDO Disease]
- Metabolic disease with macular cherry-red spot [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Unclassified primitive or secondary maculopathy [ORDO Disease]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- beta-galactosidase [SNOMED Notion]
- congenital deficiency, nos [SNOMED Notion]
- sialidase [SNOMED Notion]
SNOMED CT concept
- Combined deficiency of sialidase AND beta galactosidase (disorder) [SNOMED CT concept]
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]
- Neuraminidase deficiency with beta-galactosidase deficiency [MeSH concept]
- galactosialidosis [Disease (Nov.)]
- galactosialidosis [DO Concept]
- neuraminidase deficiency with beta-galactosidase deficiency [MeSH Supplementary Concept]

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01/05/2025

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