| maternale uniparentale disomie van X-chromosoom (aandoening) | | maternale uniparentale disomie van X-chromosoom | | UPD(X)mat
maternale uniparentale disomie van geslachtschromosoom X
| | Maternal uniparental disomy of chromosome X | | UPD(X)mat - maternal uniparental disomy of chromosome X
| | 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 |
| SNOMED CT to Orphanet simple map | 261519 |
| 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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