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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
A rare genetic endocrine disease characterized by early onset of severe intractable diarrhea and intestinal malabsorption, followed by obesity and hormonal deficiencies due to insufficient activation of several prohormones, resulting in hypocortisolism, hypothyroidism, diabetes insipidus, hypogonadism, growth deficiency, and diabetes mellitus. Extent and age of onset of hormone deficiencies are variable between patients.
Id722053001
StatusPrimitive
SNOMED CT to Orphanet simple map71528
SNOMED CT to ICD-10 extended map
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