Neuroaxonal Dystrophy

Preferred Label : Neuroaxonal Dystrophy;

NCIt synonyms : Axonal Dystrophy; NAD;

NCIt related terms : DYSTROPHY, AXONAL;

NCIt definition : A finding that refers to the axonal swelling (spheroids) located throughout the central and peripheral nervous system.;

Alternative definition : CDISC: Intracellular accumulation of cytoskeletal elements, characterized by large, eosinophilic, fusiform, or torpedo-shaped swellings (spheroids) in axons. (INHAND);

Details

Origin ID

C161542;

UMLS CUI

C0338473;

Automatic exact mappings (from CISMeF team)
- NAD [MeSH Descriptor]
- NAD [MeSH concept]
- Neutrophil actin dysfunction [OMIM Phenotype]
Currated CISMeF NLP mapping
- Neuroaxonal dystrophy [PASCAL descriptor]
- Neuroaxonal dystrophy (disorder) [SNOMED CT concept]
- neuroaxonal dystrophies [MeSH concept]
- neuroaxonal dystrophies [MeSH Descriptor]
- neuroaxonal dystrophy [DO Concept]
DO Cross reference
- neuroaxonal dystrophy [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neuroaxonal dystrophy (disorder) [SNOMED CT concept]
- PLA2G6-associated neurodegeneration [ORDO Disease]
- neuroaxonal dystrophies [MeSH Descriptor]
- neuroaxonal dystrophies [MeSH concept]
- neuroaxonal dystrophy [DO Concept]
Validated automatic mappings to BTNT
- Infantile neuroaxonal dystrophy [ORDO Disease]
- Infantile neuroaxonal dystrophy (disorder) [SNOMED CT concept]
- infantile neuroaxonal dystrophy [SNOMED Notion]
concept_is_in_subset
- CDISC SEND Non-Neoplastic Finding Type Terminology [NCIt concept]
- CDISC SEND Terminology [NCIt concept]
- Clinical Data Interchange Standards Consortium Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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