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distale artrogrypose type 6 (aandoening)
distale artrogrypose type 6
syndroom met artrogrypose-achtige handanomalie en sensorineurale doofheid
artrogrypose-achtige handafwijking-perceptieve doofheid-syndroom
Distal arthrogryposis type 6
Arthrogryposis-like hand anomaly and sensorineural deafness syndrome
This syndrome has characteristics of an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.
Id720515009
StatusPrimitive
Interpretsgehoorfunctie
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ68.8
TermOverige gespecificeerde congenitale misvormingen van botspierstelsel
TargetH90.5
TermGehoorverlies door perceptiestoornis, niet gespecificeerd
SNOMED CT to Orphanet simple map1144
SNOMED CT to ICD-10 extended map
TargetQ68.8
RuleTRUE
AdviceALWAYS Q68.8
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH90.5
RuleTRUE
AdviceALWAYS H90.5
CorrelationSNOMED CT source code to target map code correlation not specified