syndroom van ringchromosoom 8 (aandoening) | | syndroom van ringchromosoom 8 | | ringchromosoom 8-syndroom
| | Ring chromosome 8 syndrome | | Chromosome 8 derived supernumerary ring
| | A rare chromosomal anomaly from a variable part of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and intellectual disability overlapping with the well-known mosaic trisomy 8 syndrome. |
| DHD Diagnosis thesaurus reference set |
SNOMED CT to Orphanet simple map | 1450 |
SNOMED CT to ICD-10 extended map | Target | Q93.2 | Rule | TRUE | Advice | ALWAYS Q93.2 | Correlation | SNOMED CT source code to target map code correlation not specified |
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