| 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. |
| | Id | 720517001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 1188 |
| SNOMED CT to ICD-10 extended map | | Target | G11.1 | | Rule | TRUE | | Advice | ALWAYS G11.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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