|
+ ablepharia
|
n
|
1
|
[ birth_defect ]
|
eng-30-14152169-n
|
a congenital absence of eyelids (partial or complete)
|
|
+ acrocephaly
|
n
|
1
|
[ birth_defect ]
|
eng-30-14164190-n
|
a congenital abnormality of the skull; the top of the skull assumes a cone shape
|
|
+ adactylia
|
n
|
1
|
[ birth_defect ]
|
eng-30-14152803-n
|
congenital absence of fingers and/or toes
|
|
+ adactylism
|
n
|
1
|
[ birth_defect ]
|
eng-30-14152803-n
|
congenital absence of fingers and/or toes
|
|
+ adactylous
|
a
|
1
|
[ birth_defect ]
|
eng-30-02603235-a
|
without fingers and/or toes
|
|
+ adactyly
|
n
|
1
|
[ birth_defect ]
|
eng-30-14152803-n
|
congenital absence of fingers and/or toes
|
|
+ albinal
|
a
|
1
|
[ birth_defect ]
|
eng-30-02609984-a
|
of or pertaining to or affected by albinism
|
|
+ albinic
|
a
|
1
|
[ birth_defect ]
|
eng-30-02609984-a
|
of or pertaining to or affected by albinism
|
|
+ albinism
|
n
|
1
|
[ birth_defect ]
|
eng-30-14152279-n
|
the congenital absence of pigmentation in the eyes and skin and hair
|
|
+ albinistic
|
a
|
1
|
[ birth_defect ]
|
eng-30-02609984-a
|
of or pertaining to or affected by albinism
|
|
+ albinotic
|
a
|
1
|
[ birth_defect ]
|
eng-30-02609984-a
|
of or pertaining to or affected by albinism
|
|
+ amelia
|
n
|
1
|
[ birth_defect ]
|
eng-30-14466344-n
|
congenital absence of an arm or leg
|
|
+ ametria
|
n
|
1
|
[ birth_defect ]
|
eng-30-14152924-n
|
congenital absence of the uterus
|
|
+ anencephalia
|
n
|
1
|
[ birth_defect ]
|
eng-30-14152617-n
|
a defect in brain development resulting in small or missing brain hemispheres
|
|
+ anencephalic
|
a
|
1
|
[ birth_defect ]
|
eng-30-02622678-a
|
characterized by partial or total absence of a brain
|
|
+ anencephalous
|
a
|
1
|
[ birth_defect ]
|
eng-30-02622678-a
|
characterized by partial or total absence of a brain
|
|
+ anencephaly
|
n
|
1
|
[ birth_defect ]
|
eng-30-14152617-n
|
a defect in brain development resulting in small or missing brain hemispheres
|
|
+ ankyloglossia
|
n
|
1
|
[ birth_defect ]
|
eng-30-14472111-n
|
a congenital anomaly in which the mucous membrane under the tongue is too short limiting the mobility of the tongue
|
|
+ atrial_septal_defect
|
n
|
1
|
[ birth_defect ]
|
eng-30-14469334-n
|
an abnormal opening between the left and right atria of the heart
|
|
+ blue-blind
|
a
|
1
|
[ birth_defect ]
|
eng-30-02160696-a
|
inability to see the color blue or to distinguish the colors blue and yellow
|
|
+ blue-blindness
|
n
|
1
|
[ birth_defect ]
|
eng-30-14155031-n
|
rare form of dichromacy characterized by a lowered sensitivity to blue light resulting in an inability to distinguish blue and yellow
|
|
+ cheiloschisis
|
n
|
1
|
[ birth_defect ]
|
eng-30-14214355-n
|
a congenital cleft in the middle of the upper lip
|
|
+ cleft_lip
|
n
|
1
|
[ birth_defect ]
|
eng-30-14214355-n
|
a congenital cleft in the middle of the upper lip
|
|
+ cleft_palate
|
n
|
1
|
[ birth_defect ]
|
eng-30-14214486-n
|
a congenital fissure of the hard palate
|
|
+ clinocephalism
|
n
|
1
|
[ birth_defect ]
|
eng-30-14159153-n
|
a congenital defect in which the top of the head is depressed (concave instead of convex)
|
|
+ clinocephaly
|
n
|
1
|
[ birth_defect ]
|
eng-30-14159153-n
|
a congenital defect in which the top of the head is depressed (concave instead of convex)
|
|
+ clinodactyly
|
n
|
1
|
[ birth_defect ]
|
eng-30-14159318-n
|
a congenital defect in which one or more toes or fingers are abnormally positioned
|
|
+ color_blindness
|
n
|
1
|
[ birth_defect ]
|
eng-30-14153010-n
|
genetic inability to distinguish differences in hue
|
|
+ color_vision_deficiency
|
n
|
1
|
[ birth_defect ]
|
eng-30-14153010-n
|
genetic inability to distinguish differences in hue
|
|
+ color-blind
|
a
|
1
|
[ birth_defect ]
|
eng-30-02159453-a
|
unable to distinguish one or more chromatic colors
|
|
+ colour_blindness
|
n
|
1
|
[ birth_defect ]
|
eng-30-14153010-n
|
genetic inability to distinguish differences in hue
|
|
+ colour_vision_deficiency
|
n
|
1
|
[ birth_defect ]
|
eng-30-14153010-n
|
genetic inability to distinguish differences in hue
|
|
+ colour-blind
|
a
|
1
|
[ birth_defect ]
|
eng-30-02159453-a
|
unable to distinguish one or more chromatic colors
|
|
+ congenital_heart_defect
|
n
|
1
|
[ birth_defect ]
|
eng-30-14469014-n
|
a birth defect involving the heart
|
|
+ Daltonism
|
n
|
1
|
[ birth_defect ]
|
eng-30-14154168-n
|
dichromacy characterized by a lowered sensitivity to green light resulting in an inability to distinguish green and purplish-red
|
|
+ deuteranopia
|
n
|
1
|
[ birth_defect ]
|
eng-30-14154168-n
|
dichromacy characterized by a lowered sensitivity to green light resulting in an inability to distinguish green and purplish-red
|
|
+ deuteranopic
|
a
|
1
|
[ birth_defect ]
|
eng-30-02159787-a
|
inability to see the color green or to distinguish green and purplish-red
|
|
+ dichromacy
|
n
|
1
|
[ birth_defect ]
|
eng-30-14153616-n
|
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)
|
|
+ dichromasy
|
n
|
1
|
[ birth_defect ]
|
eng-30-14153616-n
|
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)
|
|
+ dichromatic
|
a
|
1
|
[ birth_defect ]
|
eng-30-03040740-a
|
of or relating to dichromatism
|
|
+ dichromatism
|
n
|
1
|
[ birth_defect ]
|
eng-30-14153616-n
|
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)
|
|
+ dichromatopsia
|
n
|
1
|
[ birth_defect ]
|
eng-30-14153616-n
|
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)
|
|
+ dichromia
|
n
|
1
|
[ birth_defect ]
|
eng-30-14153616-n
|
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)
|
|
+ Down_syndrome
|
n
|
1
|
[ birth_defect ]
|
eng-30-14159623-n
|
a congenital disorder caused by having an extra 21st chromosome; results in a flat face and short stature and mental retardation
|
|
+ Down's_syndrome
|
n
|
1
|
[ birth_defect ]
|
eng-30-14159623-n
|
a congenital disorder caused by having an extra 21st chromosome; results in a flat face and short stature and mental retardation
|
|
+ encephalocele
|
n
|
1
|
[ birth_defect ]
|
eng-30-14466846-n
|
protrusion of brain tissue through a congenital fissure in the skull
|
|
+ epispadias
|
n
|
1
|
[ birth_defect ]
|
eng-30-14153468-n
|
a congenital abnormality in males in which the urethra is on the upper surface of the penis
|
|
+ Fallot's_syndrome
|
n
|
1
|
[ symptom birth_defect ]
|
eng-30-14469766-n
|
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
|
|
+ Fallot's_tetralogy
|
n
|
1
|
[ symptom birth_defect ]
|
eng-30-14469766-n
|
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
|
|
+ green-blind
|
a
|
1
|
[ birth_defect ]
|
eng-30-02159787-a
|
inability to see the color green or to distinguish green and purplish-red
|
|
+ green-blindness
|
n
|
1
|
[ birth_defect ]
|
eng-30-14154168-n
|
dichromacy characterized by a lowered sensitivity to green light resulting in an inability to distinguish green and purplish-red
|
|
+ harelip
|
n
|
1
|
[ birth_defect ]
|
eng-30-14214355-n
|
a congenital cleft in the middle of the upper lip
|
|
+ hermaphrodism
|
n
|
1
|
[ birth_defect ]
|
eng-30-14467975-n
|
congenital condition in which external genitalia and internal sex organs have both male and female characteristics
|
|
+ hermaphroditism
|
n
|
1
|
[ birth_defect ]
|
eng-30-14467975-n
|
congenital condition in which external genitalia and internal sex organs have both male and female characteristics
|
|
+ hyperdactyly
|
n
|
1
|
[ birth_defect ]
|
eng-30-14471724-n
|
birth defect characterized by the presence of more than the normal number of fingers or toes
|
|
+ interatrial_septal_defect
|
n
|
1
|
[ birth_defect ]
|
eng-30-80000769-n
|
|
|
+ macroglossia
|
n
|
1
|
[ birth_defect ]
|
eng-30-14159459-n
|
a congenital disorder characterized by an abnormally large tongue; often seen in cases of Down's syndrome
|
|
+ meningocele
|
n
|
1
|
[ birth_defect ]
|
eng-30-14467172-n
|
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)
|
|
+ meromelia
|
n
|
1
|
[ birth_defect ]
|
eng-30-14466432-n
|
congenital absence of part of an arm or leg
|
|
+ mongolianism
|
n
|
1
|
[ birth_defect ]
|
eng-30-14159623-n
|
a congenital disorder caused by having an extra 21st chromosome; results in a flat face and short stature and mental retardation
|
|
+ mongolism
|
n
|
1
|
[ birth_defect ]
|
eng-30-14159623-n
|
a congenital disorder caused by having an extra 21st chromosome; results in a flat face and short stature and mental retardation
|
|
+ mongoloid
|
a
|
3
|
[ birth_defect ]
|
eng-30-03087579-a
|
of or relating to or suffering from Down syndrome;
|
|
+ monochromacy
|
n
|
1
|
[ birth_defect ]
|
eng-30-14155274-n
|
complete color blindness; colors can be differentiated only on the basis of brightness
|
|
+ monochromasy
|
n
|
1
|
[ birth_defect ]
|
eng-30-14155274-n
|
complete color blindness; colors can be differentiated only on the basis of brightness
|
|
+ monochromatic
|
a
|
1
|
[ birth_defect ]
|
eng-30-03040525-a
|
of or relating to monochromatism
|
|
+ monochromatic_vision
|
n
|
1
|
[ birth_defect ]
|
eng-30-14155274-n
|
complete color blindness; colors can be differentiated only on the basis of brightness
|
|
+ monochromatism
|
n
|
1
|
[ birth_defect ]
|
eng-30-14155274-n
|
complete color blindness; colors can be differentiated only on the basis of brightness
|
|
+ monochromia
|
n
|
1
|
[ birth_defect ]
|
eng-30-14155274-n
|
complete color blindness; colors can be differentiated only on the basis of brightness
|
|
+ myelomeningocele
|
n
|
1
|
[ birth_defect ]
|
eng-30-14467395-n
|
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
|
|
+ oxycephaly
|
n
|
1
|
[ birth_defect ]
|
eng-30-14164190-n
|
a congenital abnormality of the skull; the top of the skull assumes a cone shape
|
|
+ phocomelia
|
n
|
1
|
[ birth_defect ]
|
eng-30-14466567-n
|
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
|
|
+ plagiocephaly
|
n
|
1
|
[ birth_defect ]
|
eng-30-14467685-n
|
congenital malformation of the skull in which the main axis of the skull is oblique
|
|
+ polydactyly
|
n
|
1
|
[ birth_defect ]
|
eng-30-14471724-n
|
birth defect characterized by the presence of more than the normal number of fingers or toes
|
|
+ polysomy
|
n
|
1
|
[ birth_defect ]
|
eng-30-14467846-n
|
congenital defect of having one or more extra chromosomes in somatic cells
|
|
+ protanopia
|
n
|
1
|
[ birth_defect ]
|
eng-30-14154421-n
|
dichromacy characterized by lowered sensitivity to long wavelengths of light resulting in an inability to distinguish red and purplish blue
|
|
+ protanopic
|
a
|
1
|
[ birth_defect ]
|
eng-30-02160291-a
|
inability to see the color red or to distinguish red and bluish-green
|
|
+ pseudohermaphroditism
|
n
|
1
|
[ birth_defect ]
|
eng-30-14468167-n
|
congenital condition in which a person has external genitalia of one sex and internal sex organs of the other sex
|
|
+ rachischisis
|
n
|
1
|
[ birth_defect ]
|
eng-30-14471224-n
|
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
|
|
+ red-blind
|
a
|
1
|
[ birth_defect ]
|
eng-30-02160291-a
|
inability to see the color red or to distinguish red and bluish-green
|
|
+ red-blindness
|
n
|
1
|
[ birth_defect ]
|
eng-30-14154421-n
|
dichromacy characterized by lowered sensitivity to long wavelengths of light resulting in an inability to distinguish red and purplish blue
|
|
+ red-green_color_blindness
|
n
|
1
|
[ birth_defect ]
|
eng-30-14153982-n
|
confusion of red and green
|
|
+ red-green_colour_blindness
|
n
|
1
|
[ birth_defect ]
|
eng-30-14153982-n
|
confusion of red and green
|
|
+ red-green_dichromacy
|
n
|
1
|
[ birth_defect ]
|
eng-30-14153982-n
|
confusion of red and green
|
|
+ scaphocephaly
|
n
|
1
|
[ birth_defect ]
|
eng-30-14468508-n
|
congenital malformation of the skull which is long and narrow; frequently accompanied by mental retardation
|
|
+ schistorrhachis
|
n
|
1
|
[ birth_defect ]
|
eng-30-14471224-n
|
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
|
|
+ seal_limbs
|
n
|
1
|
[ birth_defect ]
|
eng-30-14466567-n
|
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
|
|
+ septal_defect
|
n
|
1
|
[ birth_defect ]
|
eng-30-14469154-n
|
a congenital abnormality in the septum between the left and right sides of the heart
|
|
+ spina_bifida
|
n
|
1
|
[ birth_defect ]
|
eng-30-14471224-n
|
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
|
|
+ spinocerebellar_disorder
|
n
|
1
|
[ birth_defect ]
|
eng-30-14471507-n
|
any of several congenital disorders marked by degeneration of the cerebellum and spinal cord resulting in spasticity and ataxia
|
|
+ syndactylism
|
n
|
1
|
[ birth_defect ]
|
eng-30-14471926-n
|
birth defect in which there is partial or total webbing connecting two or more fingers or toes
|
|
+ syndactyly
|
n
|
1
|
[ birth_defect ]
|
eng-30-14471926-n
|
birth defect in which there is partial or total webbing connecting two or more fingers or toes
|
|
+ tetartanopia
|
n
|
1
|
[ birth_defect ]
|
eng-30-14154832-n
|
a form of dichromacy characterized by lowered sensitivity to yellow light; so rare that its existence has been questioned
|
|
+ tetralogy_of_Fallot
|
n
|
1
|
[ symptom birth_defect ]
|
eng-30-14469766-n
|
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
|
|
+ tongue_tie
|
n
|
1
|
[ birth_defect ]
|
eng-30-14472111-n
|
a congenital anomaly in which the mucous membrane under the tongue is too short limiting the mobility of the tongue
|
|
+ trisomy_21
|
n
|
1
|
[ birth_defect ]
|
eng-30-14159623-n
|
a congenital disorder caused by having an extra 21st chromosome; results in a flat face and short stature and mental retardation
|
|
+ tritanopia
|
n
|
1
|
[ birth_defect ]
|
eng-30-14155031-n
|
rare form of dichromacy characterized by a lowered sensitivity to blue light resulting in an inability to distinguish blue and yellow
|
|
+ tritanopic
|
a
|
1
|
[ birth_defect ]
|
eng-30-02160696-a
|
inability to see the color blue or to distinguish the colors blue and yellow
|
|
+ ventricular_septal_defect
|
n
|
1
|
[ birth_defect ]
|
eng-30-14469466-n
|
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
|
|
+ yellow-blindness
|
n
|
1
|
[ birth_defect ]
|
eng-30-14154832-n
|
a form of dichromacy characterized by lowered sensitivity to yellow light; so rare that its existence has been questioned
|
|
+ yellow-blue_color_blindness
|
n
|
1
|
[ birth_defect ]
|
eng-30-14154669-n
|
confusion of yellow and blue
|
|
+ yellow-blue_dichromacy
|
n
|
1
|
[ birth_defect ]
|
eng-30-14154669-n
|
confusion of yellow and blue
|
