megalencephalic leukoencephalopathy with subcortical cysts

Preferred Label : megalencephalic leukoencephalopathy with subcortical cysts;

MeSH synonym : megalencephaly-cystic leukodystrophy; vacuolating megalencephalic leukoencephalopathy with subcortical cysts; leukoencephalopathy with swelling and cysts; Van Der Knapp Disease; Infantile Leukoencephalopathy and Megalencephaly; Leukoencephalopathy with Swelling and A Discrepantly Mild Course; Vacuolating Leukoencephalopathy;

Details

Origin ID

C536141;

UMLS CUI

C1858854;

Automatic exact mappings (from CISMeF team)
- megalencephalic leukoencephalopathy with subcortical cysts [DO Concept]
- megalencephalic leukoencephalopathy with subcortical cysts 1 [DO Concept]
- modulator of VRAC current 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Megalencephalic leukoencephalopathy with subcortical cysts [ORDO Disease]
- Megalencephalic leukoencephalopathy with subcortical cysts (disorder) [SNOMED CT concept]
- Megalencephalic leukoencephalopathy with subcortical cysts 1 [OMIM Phenotype]
- Van der Knaap disease [Disease (Nov.)]
DO Cross reference
- megalencephalic leukoencephalopathy with subcortical cysts [DO Concept]
- megalencephalic leukoencephalopathy with subcortical cysts 1 [DO Concept]
MeSH term(s) associated for indexing
- cysts [MeSH Descriptor]
- hereditary central nervous system demyelinating diseases [MeSH Descriptor]
Record concept(s)
- Megalencephalic leukoencephalopathy with subcortical cysts [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Megalencephalic leukoencephalopathy with subcortical cysts [ORDO Disease]
- Megalencephalic leukoencephalopathy with subcortical cysts (disorder) [SNOMED CT concept]
- Megalencephalic leukoencephalopathy with subcortical cysts 1 [OMIM Phenotype]
- Van der Knaap disease [Disease (Nov.)]
- megalencephalic leukoencephalopathy with subcortical cysts [DO Concept]
- megalencephalic leukoencephalopathy with subcortical cysts 1 [DO Concept]

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