Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia

Preferred Label : Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia;

NCIt synonyms : HDLS; POLD; ALSP; Hereditary Diffuse Leukoencephalopathy with Spheroids; Pigmentary Orthochromatic Leukodystrophy;

NCIt definition : A rapidly progressive neurodegenerative disorder, caused by mutations in the colony-stimulating factor 1 receptor (CSF1R) gene, that presents in adulthood with a variety of neuropsychiatric and motor disturbances. Hallmark features include diffuse myelin loss and axonal destruction, neuroaxonal spheroids, and pigmented macrophages and other glia.;

Details

Origin ID

C153289;

UMLS CUI

C3711381;

Automatic exact mappings (from CISMeF team)
- Leukoencephalopathy, hereditary diffuse, with spheroids 1 [OMIM Phenotype]
- Polymerase (dna-directed), delta 1, catalytic subunit [OMIM gene]
Currated CISMeF NLP mapping
- Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia [ORDO Disease]
- Hereditary diffuse leukoencephalopathy with spheroids (disorder) [SNOMED CT concept]
- adult-onset leukoencephalopathy with axonal spheroids and pigmented glia [DO Concept]
- hereditary diffuse leukoencephalopathy with spheroids [MeSH concept]
- hereditary diffuse leukoencephalopathy with spheroids [MeSH Supplementary Concept]
- hereditary diffuse leukoencephalopathy with spheroids [Disease (Nov.)]
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)
- Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia [ORDO Disease]
- Hereditary diffuse leukoencephalopathy with spheroids (disorder) [SNOMED CT concept]
- Leukoencephalopathy, hereditary diffuse, with spheroids 1 [OMIM Phenotype]
- hereditary diffuse leukoencephalopathy with spheroids [MeSH concept]
- hereditary diffuse leukoencephalopathy with spheroids [MeSH Supplementary Concept]
- hereditary diffuse leukoencephalopathy with spheroids [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]
disease_mapped_to_gene
- CSF1R Gene [NCIt concept]

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