neuraminidase 1 deficiency

Preferred Label : neuraminidase 1 deficiency;

MeSH synonym : Neu1 deficiency; Sialidosis, Type I;

MeSH Hyperonym : Sialidosis, Type II; Neu Deficiency; Neug Deficiency; Neuraminidase deficiency;

Détails

Origin ID

C537366;

UMLS CUI

C0268228;

Automatic exact mappings (from CISMeF team)
- Sialidosis type 1 [ORDO Disease]
- Sialidosis type 1 (disorder) [SNOMED CT concept]
CISMeF manual mappings
- Sialidosis type 2 [ORDO Disease]
Currated CISMeF NLP mapping
- Dysmorphic sialidosis (disorder) [SNOMED CT concept]
- Mucolipidosis type I [MedDRA Preferred Term]
- Neuraminidase deficiency [OMIM Phenotype]
- Sialidosis (disorder) [SNOMED CT concept]
- sialidosis [SNOMED Notion]
- sialidosis type II [Disease (Nov.)]
False automatic mappings
- Deficiency of sialidase (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- mucolipidoses [MeSH Descriptor]
Record concept(s)
- Neuraminidase 1 deficiency [MeSH concept]
- Sialidase deficiency [MeSH concept]
- Sialidoses, type 2 [MeSH concept]
See also (suggested by CISMeF)
- neuraminidase [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Sialidosis type 2 [ORDO Disease]
- dysmorphic sialidosis [SNOMED Notion]
Validated automatic mappings to NTBT
- Neuraminidase Deficiency [NCIt concept]
- Sialidosis type 2 [ICD-11 More detail]

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