| syndroom van epilepsie, verstandelijke beperking en amelogenesis imperfecta (aandoening) | | syndroom van epilepsie, verstandelijke beperking en amelogenesis imperfecta | | syndroom van epilepsie, verstandelijke handicap en amelogenesis imperfecta
Kohlschutter-Tonz-syndroom
syndroom van epilepsie, mentale retardatie en amelogenesis imperfecta
syndroom van Kohlschutter-Tonz
| | Amelocerebrohypohidrotic syndrome | | Kohlschütter Tönz syndrome
Epilepsy, mental deterioration and yellow teeth
Epilepsy, dementia and amelogenesis imperfecta
Kohlschutter syndrome
Kohlschutter's syndrome
| | A genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. |
| | Id | 109478007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q89.8 | | Term | Overige gespecificeerde congenitale misvormingen |
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| SNOMED CT to Orphanet simple map | 1946 |
| SNOMED CT to ICD-10 extended map | | Target | Q89.8 | | Rule | TRUE | | Advice | ALWAYS Q89.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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