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syndroom van Keppen-Lubinsky (aandoening)
syndroom van Keppen-Lubinsky
syndroom van gegeneraliseerde lipodystrofie, progeroïde gelaatstrekken en ernstige verstandelijke beperking
Keppen Lubinsky syndrome
Generalized lipodystrophy, progeroid features, severe intellectual disability syndrome
A rare genetic primary lipodystrophy syndrome with characteristics of severe developmental delay and intellectual disability, hypertonia, hyperreflexia, microcephaly, tightly adherent skin, an aged appearance, severe generalized lipodystrophy and distinct facial dysmorphism, which includes large prominent eyes, narrow nasal bridge, tented upper lip vermilion, an open mouth and high-arched palate. Laboratory analysis of serum and urine are normal.
Id1220589007
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van panniculus adiposus
Finding sitestructuur van huid
ICD-10 complex map reference set
TargetE88.1
RuleTRUE
AdviceALWAYS E88.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified