DeCS Categories
C10 Nervous System Diseases .
C10.228 Central Nervous System Diseases .
C10.228.140 Brain Diseases .
C10.228.140.163 Brain Diseases, Metabolic .
C10.228.140.163.100 Brain Diseases, Metabolic, Inborn .
C10.228.140.163.100.813 Refsum Disease .
C10.500 Nervous System Malformations .
C10.500.300 Hereditary Sensory and Motor Neuropathy .
C10.500.300.780 Refsum Disease .
C10.574 Neurodegenerative Diseases .
C10.574.500 Heredodegenerative Disorders, Nervous System .
C10.574.500.495 Hereditary Sensory and Motor Neuropathy .
C10.574.500.495.780 Refsum Disease .
C10.668 Neuromuscular Diseases .
C10.668.829 Peripheral Nervous System Diseases .
C10.668.829.800 Polyneuropathies .
C10.668.829.800.300 Hereditary Sensory and Motor Neuropathy .
C10.668.829.800.300.780 Refsum Disease .
C11 Eye Diseases .
C11.744 Refractive Errors .
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.131 Congenital Abnormalities .
C16.131.666 Nervous System Malformations .
C16.131.666.300 Hereditary Sensory and Motor Neuropathy .
C16.131.666.300.780 Refsum Disease .
C16.320 Genetic Diseases, Inborn .
C16.320.400 Heredodegenerative Disorders, Nervous System .
C16.320.400.375 Hereditary Sensory and Motor Neuropathy .
C16.320.400.375.780 Refsum Disease .
C16.320.565 Metabolism, Inborn Errors .
C16.320.565.189 Brain Diseases, Metabolic, Inborn .
C16.320.565.189.813 Refsum Disease .
C16.320.565.663 Peroxisomal Disorders .
C16.320.565.663.760 Refsum Disease .
C18 Nutritional and Metabolic Diseases .
C18.452 Metabolic Diseases .
C18.452.132 Brain Diseases, Metabolic .
C18.452.132.100 Brain Diseases, Metabolic, Inborn .
C18.452.132.100.813 Refsum Disease .
C18.452.648 Metabolism, Inborn Errors .
C18.452.648.189 Brain Diseases, Metabolic, Inborn .
C18.452.648.189.813 Refsum Disease .
C18.452.648.663 Peroxisomal Disorders .
C18.452.648.663.760 Refsum Disease .
N06 Environment and Public Health .
N06.850 Public Health .
N06.850.780 Public Health Practice .
N06.850.780.200 Communicable Disease Control .
N06.850.780.200.800 Sanitation .
N06.850.780.200.800.800 Sanitary Engineering .
N06.850.780.200.800.800.700 Refuse Disposal .
N06.850.860 Sanitation .
N06.850.860.510 Sanitary Engineering .
N06.850.860.510.900 Waste Management .
N06.850.860.510.900.600 Refuse Disposal .
SP4 Environmental Health .
SP4.001 Health .
SP4.001.037 Disasters .
SP4.001.037.423 Refugee Camps .
SP4.001.037.423.564 Shelter .
SP4.031 Waste Products .
SP4.031.342 Refuse Disposal .
SP4.031.342.938 Open Dumps .
SP4.031.362 Hazardous Waste .
SP4.031.362.088 Hazardous Waste Disposal .
SP4.031.362.088.579 Codisposal .
SP8 Disasters .
SP8.946 Disaster Management .
SP8.946.117 Emergency Watch .
SP8.946.117.073 Sheltering .
SP8.946.117.073.061 Shelter .
VS4 Environmental Health Surveillance .
VS4.001 Environmental Health .
VS4.001.001 Environmental Monitoring .
VS4.001.001.005 Waste Management .
VS4.001.001.005.001 Solid Waste .
VS4.001.001.005.001.004 Refuse Disposal .
Terms Synonyms & Historicals Documents LILACS e MDL
Refsum Disease . Adult Refsum Disease . Classic Refsum Disease . HMSN 4 . HMSN IV . Hemeralopia Heredoataxia Polyneuritiformis . Hereditary Motor And Sensory Neuropathy IV . Hereditary Motor and Sensory Neuropathy Type IV . Hereditary Motor and Sensory Neuropathy, Type IV . Hereditary Type IV Motor and Sensory Neuropathy . Phytanic Acid Oxidase Deficiency . Refsum Disease, Adult . Refsum Disease, Classic . Refsum Disease, Phytanic Acid Oxidase Deficiency . Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency . Refsum Syndrome . Refsum's Disease . Refsum's Syndrome . Refsum-Thiebaut Syndrome . Adult Refsum Diseases . Classic Refsum Diseases . Disease, Adult Refsum . Disease, Classic Refsum . Disease, Refsum . Disease, Refsum's . Diseases, Adult Refsum . Diseases, Classic Refsum . HMSN IVs . Heredoataxia Polyneuritiformis, Hemeralopia . Polyneuritiformis, Hemeralopia Heredoataxia . Polyneuritiformis, Heredopathia Atactica . Refsum Disease, Phytanoyl CoA Hydroxylase Deficiency . Refsum Diseases, Adult . Refsum Diseases, Classic . Refsum Thiebaut Syndrome . Refsum-Thiebaut Syndromes . Refsums Disease . Refsums Syndrome . Syndrome, Refsum . Syndrome, Refsum's . Syndrome, Refsum-Thiebaut . Syndromes, Refsum-Thiebaut . Heredopathia Atactica Polyneuritiformis . HMSN Type IV . Neuropathy, Hereditary Motor and Sensory, Type IV . Phytanic Acid Storage Disease . Hereditary-Motor and Sensory-Neuropathy Type IV . HEREDITARY-MOTOR AND SENSORY NEUROPATHY TYPE IV . HEREDITARY TYPE IV MOTOR AND SENSORY NEUROPATHY . NEUROPATHY, HEREDITARY MOTOR AND SENSORY TYPE IV . REFSUM'S SYNDROME . REFSUM'S DISEASE . An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES. . 0.51