Neuraminidase Deficiency

Preferred Label : Neuraminidase Deficiency;

NCIt synonyms : Sialidosis Type II; Mucolipidosis I;

NCIt definition : An autosomal recessive inherited lysosomal storage disease characterized by excessive intracellular accumulation and urinary excretion of sialic acid associated with neuraminidase deficiency.;

Details

Origin ID

C125596;

UMLS CUI

C0268226;

Automatic exact mappings (from CISMeF team)
- Deficiency of sialidase (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Mucolipidosis type I [MedDRA Preferred Term]
- Neuraminidase deficiency [OMIM Phenotype]
- Sialidosis (disorder) [SNOMED CT concept]
- type I mucolipidosis [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lipomucopolysaccharidosis [PASCAL descriptor]
- Mucolipidosis type I [MedDRA Preferred Term]
- Normosomatic sialidosis (disorder) [Inactive SNOMED CT concept]
- Sialidosis [MedDRA LLT]
- Sialidosis (disorder) [SNOMED CT concept]
- Sialidosis type 1 [ORDO Disease]
- Sialidosis type 1 [ICD-11 More detail]
- normosomatic sialidosis [SNOMED Notion]
- sialidosis [SNOMED Notion]
- type I mucolipidosis [MeSH concept]
Validated automatic mappings to BTNT
- neuraminidase 1 deficiency [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- mucolipidoses [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- NEU1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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