Cystic leukoencephalopathy without megalencephaly

Preferred Label : Cystic leukoencephalopathy without megalencephaly;

ICD-11 definition : Cystic leukoencephalopathy without megalencephaly syndrome is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment.;

ICD-11 synonym : RNASET2-deficient cystic leukoencephalopathy;

Détails

Origin ID

1081165012;

Currated CISMeF NLP mapping
- Cystic leukoencephalopathy without megalencephaly [ORDO Disease]
- Cystic leukoencephalopathy without megalencephaly (disorder) [SNOMED CT concept]
- Leukoencephalopathy, cystic, without megalencephaly [OMIM Phenotype]
- RNASET2-deficient cystic leukoencephalopathy [DO Concept]
- leukoencephalopathy, cystic, without megalencephaly [MeSH Supplementary Concept]
- leukoencephalopathy, cystic, without megalencephaly [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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