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ernstig neurodegeneratief syndroom met lipodystrofie (aandoening)
ernstig neurodegeneratief syndroom met lipodystrofie
Severe neurodegenerative syndrome with lipodystrophy
Severe neurodegenerative syndrome due to BSCL2 deficiency
Severe neurodegenerative syndrome due to BSCL2, seipin lipid droplet biogenesis associated deficiency
A rare genetic neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tetraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertrophy. Hyperactivity, tremor and development of seizures may also be associated. Caused by homozygous or compound heterozygous mutation in the BSCL2 gene on chromosome 11q13.
Id773555005
StatusPrimitive
Clinical courseprogressief
Associated morphologydystrofie
Finding sitestructuur van panniculus adiposus
referentieset met complexe 'mapping' naar ICD-10
TargetG31.8
RuleTRUE
AdviceALWAYS G31.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE88.1
RuleTRUE
AdviceALWAYS E88.1
CorrelationSNOMED CT source code to target map code correlation not specified