||||||||
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
A rare genetic syndromic intellectual disability characterized by global developmental delay, intellectual disability, infantile or childhood onset of progressive ataxia, and bilateral sensorineural hearing impairment. Variable features include signs of upper and lower motor neuron disease, peripheral neuropathy, myopathic facies, lower limb muscle wasting, and heel contractures. There have been no further descriptions in the literature since 1993.
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 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified