Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation

Preferred Label : Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation;

NCIt synonyms : LBSL;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the DARS2 gene, encoding aspartate--tRNA ligase, mitochondrial. It is characterized by slowly developing progressive cerebellar ataxia, spasticity, dorsal column dysfunction, and may also include a mild cognitive deficit or decline.;

Details

Origin ID

C188991;

UMLS CUI

C1970180;

Automatic exact mappings (from CISMeF team)
- Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [ORDO Disease]
- Leukoencephalopathy with brainstem - spinal cord involvement - lactate elevation [ICD-11 More detail]
- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation [OMIM Phenotype]
- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (disorder) [SNOMED CT concept]
- leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation [MeSH Supplementary Concept]
- leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation [MeSH concept]
Currated CISMeF NLP mapping
- Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) [SNOMED CT concept]
- Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [ORDO Disease]
- Leukoencephalopathy with brainstem - spinal cord involvement - lactate elevation [ICD-11 More detail]
- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation [OMIM Phenotype]
- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (disorder) [SNOMED CT concept]
- leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation [MeSH Supplementary Concept]
- leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation [MeSH concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
See also inter- (CISMeF)
- Deficiency of mitochondrial aspartyl transfer ribonucleic acid synthetase (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) [SNOMED CT concept]
- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation [OMIM Phenotype]
- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (disorder) [SNOMED CT concept]
- leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation [MeSH Supplementary Concept]
- leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]
disease_mapped_to_gene
- DARS2 Gene [NCIt concept]

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