aangeboren defect van stofwisseling	autosomaal dominante hereditaire aandoening
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hereditaire hypercarotenemie en retinoldeficiëntie (aandoening)
	hereditaire hypercarotenemie en retinoldeficiëntie
	hereditaire hypercarotenemie en vitamine A-deficiëntie erfelijke hypercarotenemie en deficiëntie van vitamine A erfelijke 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.

Id	726079008
Status	Primitive

Occurrence

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	E50.8
Term	Overige manifestaties van vitamine A-deficiëntie

SNOMED CT to Orphanet simple map

199285

SNOMED CT to ICD-10 extended map

Target	E50.8
Rule	TRUE
Advice	ALWAYS E50.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified