| syndroom van vroegtijdige uiterlijke veroudering, ontwikkelingsachterstand en hartritmestoornis (aandoening) | | syndroom van vroegtijdige uiterlijke veroudering, ontwikkelingsachterstand en hartritmestoornis | | syndroom van Ogden
vroegtijdige uiterlijke veroudering-ontwikkelingsachterstand-hartritmestoornis-syndroom
| | Ogden syndrome | | Premature aging appearance, developmental delay, cardiac arrhythmia syndrome
| | Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrythmias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat. |
| | Id | 771442003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 276432 |
| SNOMED CT to ICD-10 extended map | | Target | E34.8 | | Rule | TRUE | | Advice | ALWAYS E34.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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