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syndroom van radio-ulnaire synostose en amegakaryocytaire trombocytopenie (aandoening)
syndroom van radio-ulnaire synostose en amegakaryocytaire trombocytopenie
ATRUS-syndroom
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
ATRUS syndrome
Syndrome with the association of proximal fusion of the radius and ulna and congenital amegakaryocytic thrombocytopenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15).
Id721882001
StatusPrimitive
Has interpretationafwijkend
Interpretshemostase
Has interpretationonder referentiebereik
InterpretsPlatelet count
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.2
RuleTRUE
AdviceALWAYS Q87.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified