maternale uniparentale disomie van chromosoom 16 (aandoening) | | maternale uniparentale disomie van chromosoom 16 | | Maternal uniparental disomy of chromosome 16 | | A uniparental disomy of maternal origin which may be associated with intrauterine growth retardation and an elevated risk of congenital malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a recessive disease mutation for which the mother was a carrier have been described 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 | 96185 |
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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