Autosomal dominant hereditary disorder
Inborn error of metabolism
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Hereditary hypercarotenemia and vitamin A deficiency (disorder)
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.
hereditaire hypercarotenemie en retinoldeficiëntie
erfelijke hypercarotenemie en deficiëntie van vitamine A
erfelijke hypercarotenemie en vitamine A-deficiëntie
hereditaire hypercarotenemie en vitamine A-deficiëntie
Id726079008
StatusPrimitive
OccurrenceCongenital
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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