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obesitas door prohormoonconvertase 1-deficiëntie (aandoening)
obesitas door prohormoonconvertase 1-deficiëntie
obesitas door PC1-deficiëntie
Obesity due to prohormone convertase I deficiency
Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterized by severe childhood obesity, hypoadrenalism, reactive hypoglycemia, and elevated circulating levels of certain prohormones. It has been described in two patients: a 43-year-old woman and a female infant. The disorder is caused by mutations in the gene encoding prohormone convertase-1 (PCSK1, 5q15-q21), an enzyme involved in the processing of POMC, and numerous prohormones including proinsulin.
Id722053001
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE66.8
RuleTRUE
AdviceALWAYS E66.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified