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Galloway-Mowat-syndroom (aandoening)
Galloway-Mowat-syndroom
syndroom van microcefalie, hiatushernia en nefrose
Galloway-syndroom
syndroom van microcefalie, hernia hiatus oesophagei en nefrose
syndroom van Galloway-Mowat
Galloway Mowat syndrome
Nephrosis, neuronal dysmigration syndrome
Microcephaly, hiatus hernia, nephrotic syndrome
Galloway syndrome
The association of nephrotic syndrome with central nervous system anomalies. Approximately 40 cases have been reported since it was first described in 1968 in two siblings with early-onset nephrotic syndrome, microcephaly and hiatus hernia. Renal biopsy may show minimal glomerular lesions, mesangial proliferation, focal segmental hyalinosis or diffuse mesangial sclerosis. Neurological symptoms include microcephaly, psychomotor retardation, convulsions, hypotonia, abnormal cerebral gyri and sulci, cortical atrophy, hydrocephalus due to aqueductal stenosis, porencephaly or encephalomalacia. Histological analyses reveal anomalies of neuron migration. Facial dysmorphology and large ears have been reported as well as hiatus hernia, which is responsible for vomiting after the first feed. There is evidence that this syndrome is caused by homozygous mutation in the WDR73 gene (616144) on chromosome 15q25.
Id721297008
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetN04.9
RuleTRUE
AdviceALWAYS N04.9 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified