| syndroom van congenitale afwijking van wervelkolom, hart en nier (aandoening) | | syndroom van congenitale afwijking van wervelkolom, hart en nier | | syndroom van congenitale misvorming van wervelkolom, hart en nier
syndroom van aangeboren afwijking van wervelkolom, hart en nier
| | Congenital vertebral, cardiac, renal anomalies syndrome | | Congenital NAD deficiency disorder
| | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability and sensorineural hearing loss among others. |
| | Id | 1260142000 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 521438 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | 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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