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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 interpretationonder referentiebereik
InterpretsPlatelet count
Has interpretationafwijkend
Interpretshemostase
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.2
TermCongenitale gestoorde-ontwikkelingssyndromen van hoofdzakelijk extremiteiten
SNOMED CT to Orphanet simple map71289
SNOMED CT to ICD-10 extended map
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