maternale uniparentale disomie van chromosoom 1 (aandoening) | | maternale uniparentale disomie van chromosoom 1 | | UPD(1)mat
| | Maternal uniparental disomy of chromosome 1 | | A uniparental disomy of chromosome 1 of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only the mother 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 | 251009 |
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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