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syndroom van ataxie, doofheid en verstandelijke beperking (aandoening)
syndroom van ataxie, doofheid en verstandelijke beperking
syndroom van Reardon-Baraitser
syndroom van ataxie, doofheid en verstandelijke handicap
syndroom van ataxie, doofheid en mentale retardatie
Ataxia with deafness and intellectual disability syndrome
Reardon Baraitser syndrome
This syndrome has characteristics of progressive ataxia beginning during childhood, deafness and intellectual deficit. It has been described in two families. The clinical picture is similar to that seen in Richards-Rundle syndrome.
Id720517001
StatusPrimitive
Interpretsgehoorfunctie
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG11.1
TermVroeg optredende cerebellaire ataxie
TargetH91.8
TermOverige gespecificeerde vormen van gehoorverlies
TargetF79.9
TermNiet gespecificeerde zwakzinnigheid; Zonder vermelding van gedragsstoornissen
SNOMED CT to Orphanet simple map1188
SNOMED CT to ICD-10 extended map
TargetG11.1
RuleTRUE
AdviceALWAYS G11.1
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH91.8
RuleTRUE
AdviceALWAYS H91.8
CorrelationSNOMED CT source code to target map code correlation not specified
TargetF79.9
RuleTRUE
AdviceALWAYS F79.9
CorrelationSNOMED CT source code to target map code correlation not specified