| paternale uniparentale disomie van X-chromosoom (aandoening) | | paternale uniparentale disomie van X-chromosoom | | UPD(X)pat
paternale uniparentale disomie van geslachtschromosoom X
| | Paternal uniparental disomy of chromosome X | | UPD(X)pat - paternal uniparental disomy of chromosome X
| | A uniparental disomy of paternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the father is a carrier and specific phenotype depends on the inherited disorder. |
| | 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 | 261524 |
| 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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