| maternale uniparentale disomie van chromosoom 20 (aandoening) | | maternale uniparentale disomie van chromosoom 20 | | Maternal uniparental disomy of chromosome 20 | | Maternal UPD20 (uniparental disomy of chromosome 20)
| | A very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy. |
| | DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q99.8 | | Term | Overige gespecificeerde chromosoomafwijkingen |
|
| SNOMED CT to Orphanet simple map | 96186 |
| SNOMED CT to ICD-10 extended map | | Target | Q99.8 | | Rule | TRUE | | Advice | ALWAYS Q99.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
