| syndroom van neonatale diabetes, congenitale hypothyreoïdie, congenitaal glaucoom, leverfibrose en polycysteuze nieren (aandoening) | | syndroom van neonatale diabetes, congenitale hypothyreoïdie, congenitaal glaucoom, leverfibrose en polycysteuze nieren | | neonatale diabetes-congenitale hypothyreoïdie-congenitaal glaucoom-leverfibrose-polycysteuze nieren-syndroom
neonatale diabetes-congenitale hypothyroïdie-congenitaal glaucoom-hepatische fibrose-niercyste-syndroom
| | Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome | | A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others. |
| | Id | 724094005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q61.3 | | Term | Polycystische nier, niet gespecificeerd |
|
| SNOMED CT to Orphanet simple map | 79118 |
| SNOMED CT to ICD-10 extended map | | Target | P70.2 | | Rule | TRUE | | Advice | ALWAYS P70.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
