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peroxisoomproliferator-geactiveerde receptor gamma-gerelateerde familiaire partiële lipodystrofie (aandoening)
peroxisoomproliferator-geactiveerde receptor gamma-gerelateerde familiaire partiële lipodystrofie
PPAR-gamma-gerelateerde familiale partiële lipodystrofie
familiale partiële lipodystrofie type 3
PPARG-related familial partial lipodystrophy
Familial partial lipodystrophy type 3
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy
FPLD3 - familial partial lipodystrophy type 3
A rare familial partial lipodystrophy with characteristics of adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasma, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axilla and neck, hirsutism, and muscular hypertrophy of the lower limbs. Caused by heterozygous mutation in the PPARG gene on chromosome 3p25.
Id1197745002
StatusPrimitive
Finding sitestructuur van romp
Associated morphologydystrofie
Finding sitestructuur van panniculus adiposus
SNOMED CT to Orphanet simple map79083
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