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hormoongevoelige-lipase E-gerelateerde familiaire partiële lipodystrofie (aandoening)
hormoongevoelige-lipase E-gerelateerde familiaire partiële lipodystrofie
familiaire partiële lipodystrofie type 6
FPL6
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 sitestructuur van romp
Associated morphologydystrofie
Finding sitestructuur van panniculus adiposus
SNOMED CT to Orphanet simple map435660
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