autosomaal recessieve congenitale methemoglobinemie
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autosomaal recessieve congenitale methemoglobinemie type 1 (aandoening)
autosomaal recessieve congenitale methemoglobinemie type 1
hereditaire methemoglobinemie type 1
Autosomal recessive congenital methemoglobinemia type I
In type 1 cyanosis from birth is the only symptom, it is well tolerated and is associated with mild complaints of headaches, fatigue and shortness of breath upon exertion. Caused by mutations of the CYB5R3 gene (22q13.31-qter) encoding the NADH-cytochrome b5 reductase (Cb5R) and Cb5R deficiency is limited to the erythrocytes.
Id767499000
StatusPrimitive
Finding siteerytrocyt
Occurrencecongenitaal
SNOMED CT to ICD-10 extended map
TargetD74.0
RuleTRUE
AdviceALWAYS D74.0
CorrelationSNOMED CT source code to target map code correlation not specified