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autosomaal recessieve congenitale methemoglobinemie type 2 (aandoening)
autosomaal recessieve congenitale methemoglobinemie type 2
hereditaire methemoglobinemie type 2
Autosomal recessive congenital methemoglobinemia type II
Type 2 is much more severe than Type I, cyanosis is accompanied by neurological dysfunction with intellectual deficit, microcephaly, growth retardation, opisthotonus, strabismus and hypertonia, which usually becomes evident during the first four months of life. Caused by global loss of Cb5R function.
Id767498008
StatusPrimitive
Finding siteerytrocyt
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetD74.0
RuleTRUE
AdviceALWAYS D74.0
CorrelationSNOMED CT source code to target map code correlation not specified