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hereditaire hypercarotenemie en retinoldeficiëntie (aandoening)
hereditaire hypercarotenemie en retinoldeficiëntie
erfelijke hypercarotenemie en deficiëntie van vitamine A
erfelijke hypercarotenemie en vitamine A-deficiëntie
hereditaire hypercarotenemie en vitamine A-deficiëntie
Hereditary hypercarotenemia and vitamin A deficiency
An extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date. There is evidence that the disease is caused by heterozygous mutation in the BCMO1 gene on chromosome 16q23.
Id726079008
StatusPrimitive
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetE50.8
RuleTRUE
AdviceALWAYS E50.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified