| 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 syndrome associating neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving to fibrosis and polycystic kidneys. It has been described in two siblings. Minor facial anomalies were also observed. Two other families presented incomplete forms of this syndrome. Mutations in GLIS3 encoding for the transcription factor GLI similar 3 seem to be responsible for the syndrome. |
| | 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 |
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| SNOMED CT to Orphanet simple map | 79118 |
| SNOMED CT to ICD-10 extended map | | Target | Q61.3 | | Rule | TRUE | | Advice | ALWAYS Q61.3 | 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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