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Lipase E, hormone sensitive type-related familial partial lipodystrophy (disorder)
LIPE-related familial partial lipodystrophy
FPLD6 - familial partial lipodystrophy type 6
Lipase E, hormone sensitive type-related familial partial lipodystrophy
A rare genetic lipodystrophy with characteristics of abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axilla, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis, and vitiligo.
Id1197751007
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