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autosomaal semi-dominante ernstige lipodystrofische laminopathie (aandoening)
autosomaal semi-dominante ernstige lipodystrofische laminopathie
Autosomal semi-dominant severe lipodystrophic laminopathy
A rare familial partial lipodystrophy with characteristics of severe partial lipoatrophy affecting the limbs, trunk, and abdomen, together with faciocervical fat accumulation. Additional manifestations include diabetes, acanthosis nigricans, liver steatosis and hypertriglyceridemia, as well as low serum leptin and adiponectin levels. Severe cardiac rhythm and conduction disturbances have also been reported.
Id1197747005
StatusPrimitive
Finding sitestructuur van romp
Associated morphologydystrofie
Finding sitestructuur van panniculus adiposus
SNOMED CT to Orphanet simple map280365
SNOMED CT to ICD-10 extended map
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