Autosomal recessive hereditary disorder
Developmental hereditary disorder
Hereditary disorder of musculoskeletal system
Hereditary disorder of nervous system
Leukoencephalopathy
Skeletal dysplasia
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Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Presenile dementia with bone cysts
PLOSL - polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Nasu-Hakola disease
Id702347001
StatusPrimitive
Finding siteCerebral white matter structure
Associated morphologyDysplasia
Finding siteSkeletal system structure
OccurrenceCongenital
Pathological processPathological developmental process
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE75.2
TermOverige gespecificeerde sfingolipidosen
SNOMED CT to ICD-10 extended map
TargetE75.2
RuleTRUE
AdviceALWAYS E75.2
CorrelationSNOMED CT source code to target map code correlation not specified