#defect an imperfection in a bodily system; "visual defects"; "this device permits detection of defects in the lungs"
supertype: #imperfection__imperfectness__imperfectnes the state or an instance of being imperfect
subtype: #myelatelia any developmental defect of the spinal cord
subtype: #birth_defect__birthdefect__congenital_anomaly__congenital_defect__congenital_disorder__congenital_abnormality a defect that is present at birth
subtype: #ablepharia a congenital absence of eyelids (partial or complete)
subtype: #albinism the congenital absence of pigmentation in the eyes and skin and hair
subtype: #anencephaly__anencephalia a defect in brain development resulting in small or missing brain hemispheres
subtype: #ametria congenital absence of the uterus
subtype: #color_blindness__colorblindnes__colour_blindness__color_vision_deficiency__colour_vision_deficiency genetic inability to distinguish differences in hue
subtype: #dichromacy__dichromatism__dichromatopsia__dichromia__dichromasy a deficiency of color vision in which the person can match any given hue by mixing only two other wavelengths of light (as opposed to the three wavelengths needed by people with normal color vision)
subtype: #red-green_dichromacy__redgreendichromacy__red-gree_color_blindness confusion of red and green
subtype: #deuteranopia__Daltonism__green-blindness dichromacy characterized by a lowered sensitivity to green light resulting in an inability to distinguish green and purplish-red
subtype: #protanopia__red-blindness__redblindnes dichromacy characterized by lowered sensitivity to long wavelengths of light resulting in an inability to distinguish red and purplish blue
subtype: #yellow-blue_dichromacy__yellow-blue_color_blindness confusion of yellow and blue
subtype: #tetartanopia__yellow-blindness a form of dichromacy characterized by lowered sensitivity to yellow light; so rare that its existence has been questioned
subtype: #tritanopia__blue-blindness rare form of dichromacy characterized by a lowered sensitivity to blue light resulting in an inability to distinguish blue and yellow
subtype: #monochromacy__monochromatism__monochromatic_vision__monochromaticvision__monochromia__monochromasy complete color blindness; colors can be differentiated only on the basis of brightness
subtype: #epispadias a congenital abnormality in males in which the urethra is on the upper surface of the penis
subtype: #clinocephaly__clinocephalism a congenital defect in which the top of the head is depressed (concave instead of convex)
subtype: #clinodactyly a congenital defect in which one or more toes or fingers are abnormally positioned
subtype: #macroglossia a congenital disorder characterized by an abnormally large tongue; often seen in cases of Down's syndrome
subtype: #mongolism__mongolianism__Down's_syndrome__Down_syndrome__trisomy_21__trisomy21 a congenital disorder caused by having an extra 21st chromosome; results in a flat face and short stature and mental retardation
subtype: #oxycephaly__acrocephaly a congenital abnormality of the skull; the top of the skull assumes a cone shape
subtype: #cleft_lip__cleftlip__harelip__cheiloschisis__cheiloschisi a congenital cleft in the middle of the upper lip
subtype: #cleft_palate__cleftpalate a congenital fissure of the hard palate
subtype: #amelia congenital absence of an arm or leg
subtype: #meromelia congenital absence of part of an arm or leg
subtype: #adactylia__adactyly__adactylism congenital absence of fingers and/or toes
subtype: #phocomelia__seal_limbs an abnormality of development in which the upper part of an arm or leg is missing so the hands or feet are attached to the body like stumps; rare condition that results from taking thalidomide during pregnancy
subtype: #encephalocele protrusion of brain tissue through a congenital fissure in the skull
subtype: #familial_hypercholesterolemia congenital disorder characterized by high levels of cholesterol and early development of atherosclerosis
subtype: #meningocele a congenital anomaly of the central nervous system in which a sac protruding from the brain or the spinal meninges contains cerebrospinal fluid (but no nerve tissue)
subtype: #myelomeningocele a congenital defect of the central nervous system in which a sac containing part of the spinal cord and its meninges protrude through a gap in the vertebral column; frequently accompanied by hydrocephalus and mental retardation
subtype: #plagiocephaly congenital malformation of the skull in which the main axis of the skull is oblique
subtype: #polysomy congenital defect of having one or more extra chromosomes in somatic cells
subtype: #hermaphroditism congenital condition in which external genitalia and internal sex organs have both male and female characteristics
subtype: #pseudohermaphroditism congenital condition in which a person has external genitalia of one sex and internal sex organs of the other sex
subtype: #scaphocephaly congenital malformation of the skull which is long and narrow; frequently accompanied by mental retardation
subtype: #congenital_heart_defect a birth defect involving the heart
subtype: #septal_defect a congenital abnormality in the septum between the left and right sides of the heart
subtype: #atrial_septal_defect an abnormal opening between the left and right atria of the heart
subtype: #ventricular_septal_defect a common congenital heart defect; an abnormal opening in the septum dividing the ventricles allows blood to pass directly from the left to the right ventricle; large openings may cause congestive heart failure
subtype: #tetralogy_of_Fallot__Fallot's_tetralogy__Fallot's_syndrome a congenital heart defect producing cyanosis; characterized by four symptoms: pulmonary stenosis and ventricular septal defect and malposition of the aorta over both ventricles and hypertrophy of the right ventricle
subtype: #spina_bifida__spinabifida__rachischisis__schistorrhachis__schistorrhachi a not uncommon congenital defect in which a vertebra is malformed; unless several vertebrae are affected or there is myelomeningocele there are few symptoms; can be diagnosed by amniocentesis
subtype: #spinocerebellar_disorder__spinocerebellardisorder any of several congenital disorders marked by degeneration of the cerebellum and spinal cord resulting in spasticity and ataxia
subtype: #polydactyly__hyperdactyly birth defect (in humans) characterized by the presence of more than the normal number of fingers or toes
subtype: #syndactyly__syndactylism birth defect (in humans) in which there is partial or total webbing connecting two or more fingers or toes
subtype: #tongue_tie__ankyloglossia a congenital anomaly in which the mucous membrane under the tongue is too short limiting the mobility of the tongue
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