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celdood-inducerende DFFA-achtige effector C-gerelateerde familiaire partiële lipodystrofie (aandoening)
celdood-inducerende DFFA-achtige effector C-gerelateerde familiaire partiële lipodystrofie
CIDEC-gerelateerde familiale partiële lipodystrofie
FPLD5
CIDEC-related familial partial lipodystrophy
Cell death inducing DFFA like effector C-related familial partial lipodystrophy
FPLD5 - familial partial lipodystrophy type 5
A rare genetic lipodystrophy with characteristics of abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axillary fat and absence of lower limb and gluteofemoral subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis.
Id1197749008
StatusPrimitive
Finding sitestructuur van romp
Associated morphologydystrofie
Finding sitestructuur van panniculus adiposus
SNOMED CT to Orphanet simple map435651
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