Hirschsprung disease-ganglioneuroblastoma syndrome

Orpha code: 2151OMIM code:

Definicja

A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated.

Disease data
Klasyfikacja

Malformation syndrome

Kod ORPHA
2151
Kod OMIM
-
Kod ICD10
Q43.1
Kod ICD11
-

No additional description.

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