Leukoencephalopathy with Ataxia

Preferred Label : Leukoencephalopathy with Ataxia;

NCIt synonyms : CLCN2-Related Leukoencephalopathy; LKPAT; CC2L;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the CLCN2 gene, encoding chloride channel protein 2. It is characterized by variable clinical features including mild cerebellar ataxia, chorioretinopathy, visual field defects, and headaches. A characteristic pattern of white matter abnormalities is evident on MRI.;

Details

Origin ID

C171603;

UMLS CUI

C4554120;

Currated CISMeF NLP mapping
- Leukoencephalopathy with ataxia [OMIM Phenotype]
- Leukoencephalopathy with mild cerebellar ataxia and white matter edema [ORDO Disease]
- Leukoencephalopathy with mild cerebellar ataxia and white matter edema (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leukoencephalopathy with ataxia [OMIM Phenotype]
- Leukoencephalopathy with mild cerebellar ataxia and white matter edema (disorder) [SNOMED CT 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
- CLCN2 Gene [NCIt concept]

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