| 22q13.3-deletiesyndroom (aandoening) | | 22q13.3-deletiesyndroom | | monosomie 22q13.3
|  | Dit betekent dat je bent geboren met een fout in je DNA. Daarom heb je problemen met je hersenen, je spieren en je gezondheid. | | 22q13.3 deletion syndrome | | Phelan-McDermid syndrome
Monosomy 22q13
| | A rare genetic neurodevelopmental disorder characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. |
| | Id | 699310000 | | 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 | 48652 |
| 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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