| maternale uniparentale disomie van chromosoom 21 (aandoening) | | maternale uniparentale disomie van chromosoom 21 | | UPD(21)mat
| | Maternal uniparental disomy of chromosome 21 | | UPD(21)mat - maternal uniparental disomy of chromosome 21
| | Maternal uniparental disomy of chromosome 21 is a uniparental disomy of maternal 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 mother 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 | 96187 |
| 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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