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Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)
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 siteTrunk structure
Finding siteLimb structure
Associated morphologyDystrophy
Finding siteSubcutaneous fatty tissue
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