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AKT serine/threonine kinase-2-gerelateerde familiaire partiële lipodystrofie (aandoening)
AKT serine/threonine kinase-2-gerelateerde familiaire partiële lipodystrofie
AKT2-gerelateerde familiale partiële lipodystrofie
AKT2-related familial partial lipodystrophy
AKT serine/threonine kinase 2-related familial partial lipodystrophy
A rare familial partial lipodystrophy with characteristics of adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.
Id1197746001
StatusPrimitive
Finding sitestructuur van romp
Associated morphologydystrofie
Finding sitestructuur van panniculus adiposus
SNOMED CT to Orphanet simple map79085
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