Autosomal recessive hereditary disorder
Hereditary nephropathy
Multiple congenital cysts of kidney
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Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome (disorder)
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.
syndroom van neonatale diabetes, congenitale hypothyreoïdie, congenitaal glaucoom, leverfibrose en polycysteuze nieren
neonatale diabetes-congenitale hypothyroïdie-congenitaal glaucoom-hepatische fibrose-niercyste-syndroom
neonatale diabetes-congenitale hypothyreoïdie-congenitaal glaucoom-leverfibrose-polycysteuze nieren-syndroom
Id724094005
StatusPrimitive
Associated morphologyPolycystic change
Finding siteKidney structure
OccurrenceCongenital
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ61.3
RuleTRUE
AdviceALWAYS Q61.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified