| paternale uniparentale disomie van chromosoom 20 (aandoening) | | paternale uniparentale disomie van chromosoom 20 | | Paternal uniparental disomy of chromosome 20 | | Paternal UPD20 (uniparental disomy of chromosome 20)
| | Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20. |
| | 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 | 96194 |
| 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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