| syndroom van distale 5q-deletie (aandoening) | | syndroom van distale 5q-deletie | | distale 5qDS
| | Deletion 5q35 | | Distal 5q deletion
Telomeric deletion 5q
Monosomy 5q35
| | Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly and significant cardiac defects. Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment. |
| | Id | 721158009 | | 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 | 1627 |
| 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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