| 1p21.3-microdeletiesyndroom (aandoening) | | 1p21.3-microdeletiesyndroom | | monosomie 1p21.3
| | 1p21.3 microdeletion syndrome | | Monosomy 1p21.3
| | 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. |
| | Id | 719600006 | | 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 | 293948 |
| 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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