Infantile Neuroaxonal Dystrophy

Preferred Label : Infantile Neuroaxonal Dystrophy;

NCIt definition : A rare autosomal recessive neurodegenerative disorder caused by mutations in the PLA2G6 gene. It is characterized by the development of swellings called spehroids along the axons of the central nervous system. Signs and symptoms appear early in life and include movement difficulties, muscle hypotonia and spasticity, and dementia.;

Details

Origin ID

C84927;

UMLS CUI

C0270724;

Automatic exact mappings (from CISMeF team)
- Infantile neuroaxonal dystrophy [ICD-11 More detail]
Currated CISMeF NLP mapping
- Infantile neuroaxonal dystrophy [ORDO Disease]
- Infantile neuroaxonal dystrophy (disorder) [SNOMED CT concept]
- Karak Syndrome [MeSH concept]
- Neurodegeneration with brain iron accumulation 2a [OMIM Phenotype]
- infantile neuroaxonal dystrophy [Disease (Nov.)]
- infantile neuroaxonal dystrophy [MeSH concept]
- infantile neuroaxonal dystrophy [SNOMED Notion]
- karak syndrome [MeSH Supplementary Concept]
- neuroaxonal dystrophies [MeSH Descriptor]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Infantile neuroaxonal dystrophy [ORDO Disease]
- Infantile neuroaxonal dystrophy [MedDRA Preferred Term]
- Infantile neuroaxonal dystrophy (disorder) [SNOMED CT concept]
- Neurodegeneration with brain iron accumulation 2a [OMIM Phenotype]
- infantile neuroaxonal dystrophy [Disease (Nov.)]
- infantile neuroaxonal dystrophy [MeSH concept]
- infantile neuroaxonal dystrophy [SNOMED Notion]
- neurodegeneration with brain iron accumulation 2a [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PLA2G6 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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