#abnormalcy__abnormality__abnormal_condition an abnormal condition
exclusion: #normality.state
supertype: #condition.state__status a condition or state at a particular time: "a condition (or state) of disrepair"; "the current status of the arms negotiations"
subtype: #acardia congenital absence of the heart (as in the development of some monsters)
subtype: #acephalia__acephaly__acephalism absence of the head (as in the development of some monsters)
subtype: #acorea absence of the pupil in an eye
subtype: #acromicria__acromikria abnormally small extremities (underdeveloped fingers and toes)
subtype: #acromphalus__acromphalu abnormal protrusion of the navel; sometimes the start of umbilical hernia
subtype: #amastia absence of the mammary glands (either through surgery or developmental defect)
subtype: #aneuploidy an abnormality involving a chromosome number that is not an exact multiple of the haploid number (one chromosome set is incomplete)
subtype: #anorchism__anorchidism__anorchia absence of one of both testes
subtype: #asynclitism__obliquity the presentation during labor of the head of the fetus at an abnormal angle
subtype: #atresia an abnormal condition in which a normal opening or tube in the body (as the urethra) is closed or absent
subtype: #brachytactyly__brachydactylia abnormal shortness of fingers and toes
subtype: #cryptorchidy__cryptorchidism__cryptorchism failure of one or both testes to move into the scrotum as the male fetus develops
subtype: #monorchism__monorchidism failure of one testes to descend into the scrotum
subtype: #deviated_septum__deviatedseptum abnormal displacement of any wall that separates two chambers (usually in the nasal cavity)
subtype: #deviated_nasal_septum abnormal shift in location of the nasal septum; a common condition causing obstruction of the nasal passages and difficulty in breathing and recurrent nosebleeds
subtype: #dextrocardia abnormal condition where the heart is located toward the right side of the chest
subtype: #ectrodactyly congenital abnormality involving the absence of some fingers or toes
subtype: #erethism an abnormally high degree of irritability or sensitivity or excitability
subtype: #fetal_distress__foetal_distress an abnormal condition of a fetus; usually discovered during pregnancy and characterized by an abnormal heart rhythm
subtype: #hepatomegaly__megalohepatia abnormal enlargement of the liver
subtype: #inversion.abnormalcy abnormal condition in which an organ is turned inward or inside out (as when the upper part of the uterus is pulled into the cervical canal after childbirth)
subtype: #pneumothorax abnormal presence of air in the pleural cavity resulting in the collapse of the lung; may be spontaneous (due to injury to the chest) or induced (as a treatment for tuberculosis)
subtype: #macrencephaly an abnormally large braincase
subtype: #hydatid_mole__hydatidmole__hydatidiform_mole__molar_pregnancy__molarpregnancy an abnormality during pregnancy; chorionic villi around an aborting embryo degenerate and form clusters of fluid-filled sacs
subtype: #hydramnios an abnormality of pregnancy; accumulation of excess amniotic fluid
subtype: #hypervitaminosis an abnormal condition resulting from taking vitamins excessively; can be serious for vitamins A or D or K
subtype: #hypospadias__hypospadia an abnormal condition in males in which the urethra opens on the under surface of the penis
subtype: #lagophthalmos__lagophthalmo abnormal condition in which an eye cannot close completely
subtype: #mental_abnormality any abnormality of mental function
subtype: #organic_brain_syndrome__organicbrainsyndrome mental abnormality resulting from disturbance of the structure or function of the brain
subtype: #nanophthalmos__nanophthalmo condition in which both eyes are abnormally small but otherwise normal
subtype: #palmature an abnormality in which the fingers are webbed
subtype: #dysplasia abnormal development (of organs or cells) or an abnormal structure resulting from such growth
subtype: #aplasia failure of some tissue or organ to develop
subtype: #fibrous_dysplasia_of_bone a disturbance in which bone that is undergoing lysis is replaced by an abnormal proliferation of fibrous tissue resulting in bone lesions or skin lesions
subtype: #Albright's_disease__polyostotic_fibrous_dysplasia__polyostoticfibrousdysplasia fibrous dysplasia of bone affecting multiple bones
subtype: #monostotic_fibrous_dysplasia fibrous dysplasia of bone confined to a single bone
subtype: #hypertrophy abnormal enlargement of a body part or organ
subtype: #adenomegaly gland enlargement
subtype: #cor_pulmonale__corpulmonale enlargement of the right ventricle of the heart due to disease of the lungs or of the pulmonary blood vessels
subtype: #dactylomegaly abnormally large fingers or toes
subtype: #elephantiasis__elephantiasi hypertrophy of certain body parts (usually legs and scrotum); the end state of the disease filariasis
subtype: #elephantiasis_neuromatosa__elephantiasisneuromatosa hypertrophy of a limb
subtype: #elephantiasis_scroti__elephantiasisscroti__chyloderma swelling of the scrotum resulting from chronic lymphatic obstruction
subtype: #nevoid_elephantiasis__pachyderma thickening of the skin (usually unilateral on an extremity) caused by congenital enlargement of lymph vessel and lymph vessel obstruction
subtype: #splenomegaly an abnormal enlargement of the spleen
subtype: #giantism__gigantism__overgrowth excessive size; usually caused by excessive secretion of growth hormone from the pituitary gland
subtype: #acromegaly__acromegalia enlargement of bones of hands and feet and face; often accompanied by headache and muscle pain and emotional disturbances; caused by overproduction of growth hormone by the anterior pituitary gland (due to a tumor)
subtype: #hyperplasia abnormal increase in number of cells
subtype: #benign_prostatic_hyperplasia__BPH enlarged prostate; appears to be part of the natural aging process
subtype: #hypoplasia underdevelopment of an organ because of a decrease in the number of cells
subtype: #anaplasia loss of structural differentiation within a cell or group of cells often with increased capacity for multiplication, as in a malignant tumor
subtype: #hydrocephalus__hydrocephalu__hydrocephaly an abnormal condition in which cerebrospinal fluid collects in the ventricles of the brain; in infants it can cause abnormally rapid growth of the head and bulging fontanelles and a small face; in adults the symptoms are primarily neurological
subtype: #abrachia the condition of having no arms
subtype: #progeria a rare abnormality marked by premature aging (gray hair and wrinkled skin and stooped posture) in a child
subtype: #atypicality__untypicality any state that is not typical
subtype: #arrested_development__fixation__infantile_fixation__infantilefixation__regression an abnormal state in which development has stopped prematurely
subtype: #aberrance__aberrancy__aberration__deviance an aberrant state or condition
subtype: #chromosomal_aberration__chromosomalaberration__chromosomal_anomaly__chromosomalanomaly__chrosomal_abnormality__chrosomalabnormality__chromosonal_disorder__chromosonaldisorder any change in the normal structure or number of chromosomes; often results in physical or mental abnormalities
subtype: #monosomy chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number
subtype: #trisomy chrosomal abnormality in which there is one more than the normal number of chromosomes in a cell
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: #sex-linked_disorder any disease or abnormality that is determined by the sex hormones; "hemophilia is determined by a gene defect on an X chromosome"
subtype: #hemophilia__haemophilia__bleeder's_disease__bleeder'sdisease congenital tendency to uncontrolled bleeding; usually affects males and is transmitted from mother to son
subtype: #hemophilia_A__haemophilia_A__classical_hemophilia__classicalhemophilia__classical_haemophilia__classicalhaemophilia hemophilia caused by a congenital deficiency of factor VIII; occurs almost exclusively in men
subtype: #hemophilia_B__haemophilia_B__Christmas_disease a clotting disorder similar to hemophilia A but caused by a congenital deficiency of factor IX
subtype: #von_Willebrand's_disease__angiohemophilia__vascularhemophilia a form of hemophilia discovered by Erik von Willebrand; a genetic disorder that is inherited as an autosomal recessive trait; characterized by a deficiency of the coagulation factor and by mucosal bleeding
subtype: #Turner's_syndrome a chromosomal disorder in females who have only one X chromosome; marked by dwarfism and heart abnormalities and underdeveloped sex organs
subtype: #deflection__warp a twist or aberration; especially a perverse or abnormal way of judging or acting
subtype: #cyclopia a developmental abnormality in which there is only one eye
subtype: #spinal_curvature an abnormal curvature of the vertebral column
subtype: #kyphosis__humpback__hunchback an abnormal backward curve to the vertebral column
subtype: #lordosis__hollow-back an abnormal inward (forward) curvature of the vertebral column
subtype: #scoliosis__scoliosi an abnormal lateral curve to the vertebral column
subtype: #subnormality the state of being less than normal (especially with respect to intelligence)
subtype: #anomalousness__anomalousnes deviation from the normal or common order or form or rule
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
subtype: #gynecomastia excessive development of the breasts in males; usually the result of hormonal imbalance or treatment with certain drugs (including some antihypertensives)
subtype: #infantilism.abnormalcy an abnormal condition in which an older child or adult retains infantile characteristics
subtype: #ateleiosis__ateliosis__ateliosi a form of infantilism characterized by physical underdevelopment but normal intelligence
subtype: #macrocephaly__megacephaly__megalocephaly an abnormally large head; differs from hydrocephalus because there is no increased intracranial pressure and the overgrowth is symmetrical
subtype: #microbrachia abnormally small arms
subtype: #microcephaly__microcephalus__microcephalu__nanocephaly an abnormally small head and underdeveloped brain
subtype: #pachycheilia an abnormal thickness of the lips
subtype: #phimosis an abnormal tightness of the foreskin preventing retraction over the glans
subtype: #sequela any abnormality following or resulting from a disease or injury or treatment; "paralysis is one of the sequelae of poliomyelitis"
subtype: #strabismus__squint abnormal alignment of one or both eyes
subtype: #cross-eye__crosseye__crossed_eye__crossedeye__convergent_strabismus__esotropia strabismus in which one or both eyes turn inward toward the nose
subtype: #walleye__divergent_strabismus__exotropia strabismus in which one or both eyes are directed outward
subtype: #torticollis__torticolli__wryneck an unnatural condition in which the head leans to one side because the neck muscles on that side are contracted
subtype: #varix abnormally enlarged or twisted blood vessel or lymphatic vessel
subtype: #varicosity varix or varicose condition in which a vein is swollen and tortuous
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