| paternale uniparentale disomie van chromosoom 5 (aandoening) | | paternale uniparentale disomie van chromosoom 5 | | Paternal uniparental disomy of chromosome 5 | | Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. |
| | DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q99.8 | | Term | Overige gespecificeerde chromosoomafwijkingen |
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| SNOMED CT to Orphanet simple map | 96190 |
| 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 |
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