783701002: Port-wine nevi, mega cisterna magna, hydrocephalus syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\...
• \Congenital anomaly of skin\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Vascular disease of the skin\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Hydrocephalus\Communicating hydrocephalus (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Hydrocephalus\Communicating hydrocephalus (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Vascular disease of the skin\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \General finding of soft tissue\Blood vessel finding\Capillary finding\Disorder of capillaries (disorder)\Capillary malformation\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \General finding of soft tissue\Blood vessel finding\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \General finding of soft tissue\Blood vessel finding\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Capillary malformation\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \General finding of soft tissue\Blood vessel finding\Vascular disorder\Disorder of capillaries (disorder)\Capillary malformation\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \General finding of soft tissue\Blood vessel finding\Vascular disorder\Vascular disease of the skin\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Vascular disease of the skin\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Capillary malformation\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Disorder of capillaries (disorder)\Capillary malformation\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Vascular disease of the skin\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Central nervous system finding\Finding of meninges\Mega cisterna magna (finding)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Central nervous system finding\Finding of meninges\Disorder of meninges\Congenital malformation of the meninges\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Hydrocephalus\Communicating hydrocephalus (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital malformation of the meninges\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Hydrocephalus\Communicating hydrocephalus (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of meninges\Congenital malformation of the meninges\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Integumentary system finding\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Vascular disease of the skin\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Vascular disease of the skin\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Capillary malformation\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of peripheral blood vessel (disorder)\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Capillary malformation\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Capillary malformation\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Vascular disorder\Disorder of capillaries (disorder)\Capillary malformation\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Vascular disorder\Vascular disease of the skin\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Cardiovascular finding\Blood vessel finding\Capillary finding\Disorder of capillaries (disorder)\Capillary malformation\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Cardiovascular finding\Blood vessel finding\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Cardiovascular finding\Blood vessel finding\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Capillary malformation\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Cardiovascular finding\Blood vessel finding\Vascular disorder\Disorder of capillaries (disorder)\Capillary malformation\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Cardiovascular finding\Blood vessel finding\Vascular disorder\Vascular disease of the skin\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Fetal and/or neonatal disorder\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Capillary malformation\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of peripheral blood vessel (disorder)\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Capillary malformation\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital malformation of the meninges\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of peripheral blood vessel (disorder)\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Capillary malformation\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Disorder of body system\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Vascular disease of the skin\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital malformation of the meninges\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital malformation of the meninges\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Hydrocephalus\Communicating hydrocephalus (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of meninges\Congenital malformation of the meninges\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Capillary malformation\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of peripheral blood vessel (disorder)\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Capillary malformation\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Capillary malformation\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Vascular disorder\Disorder of capillaries (disorder)\Capillary malformation\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Vascular disorder\Vascular disease of the skin\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Hydrocephalus\Communicating hydrocephalus (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Vascular disease of the skin\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Disorder of soft tissue\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Disorder of soft tissue\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Capillary malformation\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Disorder of soft tissue\Vascular disorder\Disorder of capillaries (disorder)\Capillary malformation\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Disorder of soft tissue\Vascular disorder\Vascular disease of the skin\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital malformation of the meninges\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of peripheral blood vessel (disorder)\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Cutaneous vascular malformation (disorder)\Congenital venous malformation of skin (disorder)\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Capillary malformation\Cutaneous capillary malformation (disorder)\Port-wine stain of skin (disorder)\A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5408612011	A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5408613018	A rare developmental defect during embryogenesis syndrome characterised by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3759770014	Port-wine nevi, mega cisterna magna, hydrocephalus syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3759771013	Nova syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3759772018	Port-wine nevi, mega cisterna magna, hydrocephalus syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3759773011	Port-wine naevi, mega cisterna magna, hydrocephalus syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1013661000241117	syndrome de nævus en tache de vin, citerne cérébellomédullaire élargie, hydrocéphalie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3412671001000110	Portweinnaevus - Megacisterna magna - Hydrozephalus	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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