| | 1q44-microdeletiesyndroom (aandoening) |  |  | 1q44-microdeletiesyndroom |  |  | 1q44 microdeletion syndrome |  |  | Monosomy 1q44
 |  |  | 1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia. | 
 | | Id | 719649004 |  | Status | Primitive | 
| DHD Diagnosis thesaurus reference set | 
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set |  | | Target | Q93.5 |  | Term | Overige deleties van deel van chromosoom | 
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| SNOMED CT to Orphanet simple map | 238769 | 
| SNOMED CT to ICD-10 extended map |  | | Target | Q93.5 |  | Rule | TRUE |  | Advice | ALWAYS Q93.5 |  | Correlation | SNOMED CT source code to target map code correlation not specified | 
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