Neuronal Intranuclear Inclusion Disease

Preferred Label : Neuronal Intranuclear Inclusion Disease;

NCIt synonyms : NIID;

NCIt definition : A rare, slowly progressive, multisystem neurodegenerative disorder that usually affects children. It is characterized by the presence of eosinophilic neuronal intranuclear inclusions and neuronal loss. It results in abnormalities of the central, peripheral, and autonomic nervous systems. Patients present with ataxia, extra-pyramidal signs, absent deep tendon reflexes, weakness, muscle wasting, foot deformities, and behavioral or cognitive abnormalities.;

Details

Origin ID

C122655;

UMLS CUI

C1863843;

Automatic exact mappings (from CISMeF team)
- Neuronal intranuclear inclusion disease [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Neuronal intranuclear inclusion disease [OMIM Phenotype]
- Neuronal intranuclear inclusion disease [ORDO Disease]
- Neuronal intranuclear inclusion disease [MeSH concept]
- Neuronal intranuclear inclusion disease [ICD-11 More detail]
- Neuronal intranuclear inclusion disease (disorder) [SNOMED CT concept]
- neuronal intranuclear inclusion disease [MeSH Supplementary Concept]
Has associated anatomic sites
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neuronal intranuclear inclusion disease [ORDO Disease]
- Neuronal intranuclear inclusion disease [OMIM Phenotype]
- Neuronal intranuclear inclusion disease [MeSH concept]
- Neuronal intranuclear inclusion disease [ICD-11 More detail]
- Neuronal intranuclear inclusion disease [MedDRA Preferred Term]
- Neuronal intranuclear inclusion disease (disorder) [SNOMED CT concept]
- neuronal intranuclear inclusion disease [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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