EEG with temporal sharp waves

description: EEG with sharp waves in the temporal region, i.e., sharp transient waves of a duration between 80 and 200 msec.


Abnormal digit morphology

category: biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: A morphological abnormality of a digit, i.e., of a finger or toe.


Prominent digit pad

description: A soft tissue prominence of the ventral aspects of the fingertips or toe tips.


Partial absence of finger

description: The absence of a phalangeal segment of a finger.


Broad fingertip

description: Increased width of the distal segment of a finger.


Long palm

description: For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length.


Convex contour of sole

description: The contour of the foot in lateral profile has a convex shape.


Broad thumb

description: Increased thumb width without increased dorso-ventral dimension.


Partial absence of toe

description: The absence of a phalangeal segment of a toe or hallux.


Splayed toes

description: Divergence of digits along the anteroposterior axis (in the plane of the sole).


Slender toe

description: Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.


Tapered toe

description: The gradual reduction in girth of the toe from proximal to distal.


Bridged palmar crease

description: A crease that connects the proximal and distal transverse palmar creases.


Sydney crease

description: Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm.


Fused nails

description: A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature.


Narrow nail

description: Decreased width of nail.


Abnormal long bone morphology

description: An abnormality of size or shape of the long bones.


Unicoronal synostosis

description: Synostosis affecting only one of the coronal sutures.


Left unicoronal synostosis

description: Synostosis affecting only the left coronal suture.


Right unicoronal synostosis

description: Unicoronal synostosis affecting only the right coronal suture.


Bicoronal synostosis

description: Synostosis affecting the right and the left coronal suture.


Bilambdoid synostosis

description: Premature synostosis of both lambdoid sutures.


Unilambdoid synostosis

description: Premature synostosis of only one lambdoid suture.


Left unilambdoid synostosis

description: Premature synostosis of only the left lambdoid suture.


Right unilambdoid synostosis

description: Premature synostosis of only the right lambdoid suture.


Cleft of chin

description: Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin.


Multiple suture craniosynostosis

description: Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified.


Pansynostosis

description: Craniosynostosis of all calvarial sutures.


Anterior plagiocephaly

description: Asymmetry of the anterior part of the skull.


Posterior plagiocephaly

description: Asymmetry of the posterior part of the skull.


Abnormality of fontanelles

description: An abnormality of the fontanelle.


Abnormality of cranial sutures

description: Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant.


Frontal hirsutism

description: Excessive amount of hair growth on forehead.


Bitemporal forceps marks

description: Bilateral temporal scarlike defects, which are said to resemble forceps marks.


Abnormality of mouth shape

description: An abnormality of the outline, configuration, or contour of the mouth.


Abnormality of upper lip vermillion

description: An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin.


Incomplete cleft of the upper lip

description: Cleft of the upper lip that does not go all the way from the bottom of the upper lip until the nasal cavity.


Long upper lip

description: Increased width of the upper lip.


Mild global developmental delay

description: A mild delay in the achievement of motor or mental milestones in the domains of development of a child.


Moderate global developmental delay

description: A moderate delay in the achievement of motor or mental milestones in the domains of development of a child.


Severe global developmental delay

description: A severe delay in the achievement of motor or mental milestones in the domains of development of a child.


Moderate expressive language delay

description: A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.


Mild expressive language delay

description: A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.


Abnormality of ocular abduction

description: An abnormality involving the movement of the eye outwards.


Abnormal sixth cranial nerve morphology

description: Any structural abnormality of the abducens nerve.


Mild receptive language delay

description: A mild delay in the acquisition of the ability to understand the speech of others.


Moderate receptive language delay

description: A moderate delay in the acquisition of the ability to understand the speech of others.


Severe receptive language delay

description: A severe delay in the acquisition of the ability to understand the speech of others.


Arterial intimal fibrosis

description: Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries.


Generalized abnormality of skin

description: An abnormality of the skin that is not localized to any one particular region.


Localized skin lesion

description: A lesion of the skin that is located in a specific region rather than being generalized.


Regional abnormality of skin

description: An abnormality of the skin that is restricted to a particular body region.


Generalized hypopigmentation of hair

description: Reduced pigmentation of hair diffusely.


Dry hair

description: Hair that lacks the luster (shine or gleam) of normal hair.


Acquired abnormal hair pattern

description: An abnormality of the distribution of hair growth that is acquired during the course of life.


Congenital abnormal hair pattern

description: A congenital abnormality of the distribution of hair growth.


Abnormal hair quantity

description: An abnormal amount of hair.


Abnormality of hair growth rate

description: Hair whose growth rate deviates from the norm.


White hair

description: Hypopigmented hair that appears white.


Patchy hypopigmentation of hair

description: Reduced pigmentation of hair in patches.


Yellow nails

description: Yellowish discoloration of the nails.


Epidermal thickening

description: Thickening of the epidermal layer of the skin.


Recurrent cutaneous fungal infections

description: Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections.


Recurrent viral skin infections

description: Increased susceptibility to viral skin infections, as manifested by recurrent episodes of viral skin infections.


Aplasia of the inner ear

description: Absence of the inner ear due to a developmental defect.


Incomplete partition of the cochlea

description: Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema.


name: Incomplete partition of the cochlea type I

description: Incomplete partition I is also known as cystic cochleovestibular malformation, where the cochlea has no bony modiolus, resulting in an empty cystic cochlea. This is accompanied by a dilated cystic vestibule with developmental arrest at the fifth week of gestation.


Cochlear aplasia

description: Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.


name: Abnormal morphology of the vestibule of the inner ear

description: A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals.


Aplasia of the vestibule

description: Complete absence of the vestibule of the inner ear.


name: Hypoplasia of the vestibule of the inner ear

description: Underdevelopment of the vestibule of the inner ear.


Dilated vestibule of the inner ear

description: Dilatation of the vestibule of the inner ear.


Abnormal semicircular canal morphology

description: An abnormality of the morphology of the semicircular canal.


Aplasia of the semicircular canal

description: Absence of the semicircular canal.


Hypoplasia of the semicircular canal

description: Underdevelopment of the semicircular canal.


Enlarged semicircular canal

description: Increased size of the semicircular canal.


name: Abnormality of the internal auditory canal

description: An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse.


Absent internal auditory canal

description: Aplasia of the internal auditory canal.


Narrow internal auditory canal

description: Reduction in diameter of the internal auditory canal.


Enlarged cochlear aqueduct

description: Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular.


Functional abnormality of the inner ear

description: An abnormality of the function of the inner ear.


Abnormal inner ear morphology

description: A structural anomaly of the internal part of the ear.


Aplasia of the vestibular nerve.

description: Absence of the vestibular nerve


Hypoplasia of the vestibular nerve

description: Underdevelopment of the vestibular nerve.


Aplasia/Hypoplasia of the cochlea

description: Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.


Abnormality of the cochlear nerve

description: Any anomaly of the cohclear nerve, which is the part of the vestibulocochlear nerve that is responsible for transmitting auditory signals from the inner ear to the cochlear nuclei within the brainstem and ultimately to the primary auditory cortex within the temporal lobe.


name: Abnormality of the dorsal column of the spinal cord

description: An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus.


Tibialis anterior muscle atrophy

description: Wasting of the tibialis anterior muscle.


Abnormal CNS myelination

description: An abnormality of myelination of nerves in the central nervous system.


Delayed peripheral myelination

description: Delayed myelination in the peripheral nervous system.


Demyelinating sensory neuropathy

description: Demyelination of peripheral sensory nerves.


name: Abnormal umbilical cord blood vessel morphology


Lethal short-trunk short stature

description: A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth.


name: Childhood onset short-limb short stature


Infancy onset short-trunk short stature

description: A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy.


name: Moderate intrauterine growth retardation

description: Intrauterine growth retardation that is at least 3 standard deviations (SD) below average, but not as low as 4 SD, corrected for sex and gestational age.


Abnormal placental membrane morphology

description: Structural anomaly of the fetal membranes (also known as the amniochorionic or placental membranes), which comprise a vital intrauterine compartment, where they perform mechanical, immune, and endocrine functions to promote growth of the fetus and protection from environmental adversity. Amniochorionic membranes anatomically consist of a single layer of cuboidal amnion epithelial cells, chorionic trophoblasts, and scattered fibroblasts connected by a layer of type IV collagen-rich extracellular matrix.


Caesarian section

description: Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy).


Ventouse delivery

description: Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labor has not progressed adequately.


Shoulder dystocia

description: Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex.


Hydropic placenta

description: An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement.


Placental infarction

description: Interruption of the blood supply to a portion of the placenta, resulting in ischemic necrosis.


Long umbilical cord

description: Increased length of the umbilical cord.


Abnormal insertion of umbilical cord

description: Anomalous location of the insertion of umbilical cord in the placenta. Normally, the insertion is at least two centimers distant from the edge of the placenta.


Age of death

description: The age group when the cessation of life happens.


Death in adolescence

description: Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 19 years).


Abnormal blood chloride concentration

description: An abnormality of chloride homeostasis or concentration in the body.


Hyperchloremia

description: An abnormally increased chloride concentration in the blood.


Increased serum zinc

description: An increased consentration of zinc in the blood.


Fetal ultrasound soft marker

description: An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders.


Fetal choroid plexus cysts

description: Fetal choroid plexus cysts (CPCs) are sonographically discrete, small cysts found in the choroid plexus within the lateral cerebral ventricles of the developing fetus at 14 to 24 weeks gestation. Imaging of the choroid plexus is performed in the transverse plane of the fetal head at the same level that the lateral cerebral ventricle is evaluated. The choroid plexus should be inspected bilaterally for the presence of cysts. The size of CPCs is not of clinical relevance (PMID:16100637).


Enlarged fetal cisterna magna

description: The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vermis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (PMID:16100637).


Short fetal femur length

description: A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637).


Short fetal humerus length

description: A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637).


Hypoplasia of fetal nasal bone

description: On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (PMID:16100637).


Fetal fifth finger clinodactyly

description: Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (PMID:16100637).


name: Elevated maternal circulating alpha-fetoprotein concentration

description: Increase in the levels of maternal serum alpha-fetoprotein levels during pregnancy.


name: High maternal circulating chorionic gonadotropin concentration

description: An abnormally high concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age.


name: Low maternal circulating chorionic gonadotropin concentration

description: An abnormally low concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age.


name: Low maternal circulating PAPP-A concentration

description: An abnormally low concentration of serum PAPP-A (pregnancy associated plasma protein A), as compared to normal values for gestational-age.


Abnormal maternal serum screening

description: An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy.


Maternal teratogenic exposure

description: A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy.


Anesthetic-induced rhabdomylosis

description: Rhabdomyolysis induced by anesthesia.


Alcohol-induced rhabdomyolysis

description: Rhabdomyolysis induced by intake of alcohol.


Abnormal medulla oblongata morphology

description: An abnormality of the medulla oblongata, the lower half of the brainstem.


Abnormal central motor function

description: An anomaly of the control or production of movement in the central nervous system.


Decorticate rigidity

description: A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus.


Abnormality of mental function

description: Cognitive, psychiatric, or memory anomaly.


Ankle clonus

description: Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.


Knee clonus

description: Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes.


Primary microcephaly

description: Head circumference below 2 standard deviations below the mean for age and gender at birth.


name: Functional abnormality of the middle ear

description: An abnormality of the function of the middle ear.


Abnormality of the incus

description: An abnormality of the incus, an ossicle in the middle ear.


Abnormality of the malleus

description: An abnormality of the malleus, an ossicle in the middle ear.


Absent malleus

description: Aplasia of the malleus.


Absent stapes

description: Aplasia of the stapes.


Loss of eyelashes

description: This term refers to the loss of eyelashes that were previously present.


Abdominal symptom

description: A subjective manifestation of disease localized to the abdomen.


Embryonal onset

description: Onset of disease at up to 8 weeks following fertilization (corresponding to 10 weeks of gestation).


Fetal onset

description: Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks).


Young adult onset

description: Onset of disease at the age of between 16 and 40 years.


Childhood onset

description: Onset of disease at the age of between 1 and 5 years.


Aganglionosis of the small intestine

description: A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine.


Duodenal aganglionosis

description: A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum.


Aplasia/Hypoplasia of the gallbladder

description: Absence or underdevelopment of the gallbladder.


Nasal regurgitation

description: Regurgitation of milk through the nose.


Nasogastric tube feeding in infancy

description: Feeding problem necessitating nasogastric tube feeding.


Gastrostomy tube feeding in infancy

description: Feeding problem necessitating gastrostomy tube feeding.


name: Abnormal small intestinal villus morphology


Villous atrophy

description: The enteric villi are atrophic or absent.


name: Childhood onset sensorineural hearing impairment

description: Sensorineural hearing impairment with childhood onset.


Persistent stapedial artery

description: Persistence of the stapedial artery, which normally regresses during embryonic life.


name: Profound sensorineural hearing impairment

description: Complete loss of hearing related to a sensorineural defect.


Upbeat nystagmus

description: In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient.


True anophthalmia

description: Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination.


Abnormal lacrimal punctum morphology

description: An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid.


Unilateral microphthalmos

description: A developmental anomaly characterized by abnormal smallness of one eye.


Abnormal lacrimal duct morphology

description: An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac.


Abnormal lacrimal gland morphology

description: Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye.


name: Anterior synechiae of the anterior chamber

description: Adhesions between the iris and the cornea.


name: Posterior synechiae of the anterior chamber

description: Adhesions between the iris and the lens.


Corneolenticular adhesion

description: Developmental abnormality in which the lens and cornea are not separated.


Abnormality of corneal thickness

description: An abnormal anteroposterior thickness of the cornea.


Increased corneal thickness

description: A increased anteroposterior thickness of the cornea.


Abnormal corneal endothelium morphology

description: Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea.


description: Abnormal migration of corneal endothelium.


Abnormal Descemet membrane morphology

description: Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium.


name: Reduced number of corneal endothelial cells

description: A reduction in the number of corneal endothelial cells.


Abnormal corneal stroma morphology

description: An abnormality of the stroma of cornea, also known as the substantia propria of cornea.


Central opacification of the cornea

description: Reduced transparency of the central portion of the corneal stroma.


Generalized opacification of the cornea

description: Generalized reduced transparency of the stroma of the cornea.


Abnormal corneal epithelium morphology

description: Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea.


Mydriasis

description: Abnormal dilatation of the iris.


Polycoria

description: Multiple pupils.


Anterior lenticonus

description: A conical projection of the anterior surface of the lens, occurring as a developmental anomaly.


Posterior lenticonus

description: A conical projection of the posterior surface of the lens, occurring as a developmental anomaly.


Aplasia of the fovea

description: Congenital absence of the fovea.


Macular flecks

description: Pale often indistinct lesions of the macula.


Macular hyperpigmentation

description: Increased amount of pigmentation in the macula lutea.


Drusen

description: Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye.


Macular schisis

description: Splitting of the retina in the macular region.


Hyperpigmentation of the fundus

description: Increased pigmentation of the fundus


Abnormality of binocular vision

description: An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth.


Abnormal stereopsis

description: Inability to make fine depth discriminations from parallax provided by the two eyes' different positions on the head.


Cone monochromacy

description: The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors.


Dichromacy

description: Individuals affected by dichromacy possess only two types of cones, instead of three.


Anomalous trichromacy

description: Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones.


Deuteranomaly

description: A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green.


Deuteranopia

description: Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green.


Protanopia

description: Blue and green cones only; no functional red cones.


Iris cyst

description: An iris cyst is composed of a single cell layer of epithelium and is filled with fluid.


Iris nevus

description: A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated.


Abnormality of lens shape

description: An abnormal shape of the lens.


Lentiglobus

description: Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging.


name: Solitary congenital hypertrophy of retinal pigment epithelium

description: Sharply demarcated hyperpigmentation which is congenital found in around 3-5% of the population and of no functional significance.


name: Multiple bilateral congenital hypertrophy of retinal pigment epithelium

description: Sharply demarcated hyperpigmentation which is congenital.


Retinal hole

description: A small break in the retina.


Subretinal exudate

description: A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium.


name: Abnormal spatial orientation of the cardiac segments

description: Abnormality of the spatial relationship of the cardiac segments to other components of the heart.


Abnormal atrial arrangement

description: Abnormality of the spatial relationship of the atria to other components of the heart.


Right atrial isomerism

description: Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest.


Left atrial isomerism

description: In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest.


Atrial situs inversus

description: Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side.


Atrial situs ambiguous

description: Common atrium without defining morphologic features.


Criss-cross atrioventricular valves

description: Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis.


name: Criss-cross atrioventricular valves with superior-inferior ventricles

description: Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side.


name: Superior-inferior ventricles without criss-cross atrioventricular valves


name: Abnormal connection of the cardiac segments

description: A deviance in the normal connections between two cardiac segements.


Abnormal atrioventricular connection

description: An abnormality of the circulatory connection between atria and ventricles.


name: Absent left sided atrioventricular connection

description: A defect where there is no connection between the left atrium and left ventricle.


name: Absent right sided atrioventricular connection

description: A defect where there is no connection between the right atrium and right ventricle.


name: Univentricular heart with absent left sided atrioventricular connection


name: Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection


name: Right sided atrium to left ventricle and absent left sided atrioventricular connection


Ambiguous atrioventricular connection

description: With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle).


Discordant atrioventricular connection

description: Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart.


name: Double inlet atrioventricular connection

description: The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve.


Double inlet right ventricle

description: The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic.


name: Double inlet to single ventricle of indeterminate morphology

description: The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle.


name: Double inlet to single ventricle with common atrioventricular orifice


name: Double inlet to single ventricle with two atrioventricular valves


Overriding atrioventricular valve

description: An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect.


Straddling atrioventricular valve

description: Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect.


Abnormal ventriculoarterial connection

description: An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta.


Mitral valve arcade

description: Anomalous mitral valve arcade is diagnosed based on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle.


Common atrium

description: Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections.


Cleft anterior mitral valve leaflet

description: Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect.


Parachute mitral valve

description: Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles.


Supramitral ring

description: A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve.


Hypoplastic tricuspid valve

description: Congenital defect characterized by underdevelopment of the tricuspid valve.


Imperforate atrioventricular valve

description: An atrioventricular valve that has failed to open (atretic).


Imperforate tricuspid valve

description: A tricuspid valve that has failed to open.


name: Intermediate atrioventricular canal defect

description: A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices.


name: Transitional atrioventricular canal defect

description: A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices.


name: Unbalanced atrioventricular canal defect

description: Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced).


name: Short chordae tendineae of the mitral valve

description: Abnormally short chordae tendineae of the mitral valve.


Abdominal ectopia cordis

description: Displacement of the heart outside the thoracic cavity and into the abdomen.


Cervical ectopia cordis

description: A type of ectopia cordis with the heart partially in the cervical region and without a defect of the sternum.


Thoracocervical ectopia cordis

description: A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum.


Thoracic ectopia cordis

description: Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum.


Thoracoabdominal ectopia cordis

description: Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity.


name: Abnormal branching pattern of the aortic arch

description: A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries.


Cervical aortic arch

description: The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta.


name: Common origin of the right brachiocephalic artery and left common carotid artery

description: The left common carotid artery has a common origin with the innominate artery.


Double aortic arch

description: A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor).


name: Left aortic arch with cervical origin of the right subclavian artery


name: Left aortic arch with isolated subclavian artery

description: The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis.


name: Right aortic arch with retroesophageal diverticulum of Kommerell

description: Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch.


name: Left aortic arch with retroesophageal right subclavian artery

description: Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body.


name: Left aortic arch with right descending aorta and right ductus arteriosus

description: The ring may be completed by the ductal ligament.


name: Right aortic arch with left descending aorta and left ductus arteriosus


name: Right aortic arch with retroesophageal left subclavian artery


Abnormal direction of ventricular apex

description: Abnormal plane of direction of the heart from the base to the apex. Left sided is normal.


Rightward direction of ventricular apex

description: Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal.


Midline direction of ventricular apex

description: Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal.


name: Congenital malformation of the great arteries

description: Defect or defects of the morphogenesis of the aorta and pulmonary arteries.


name: Congenitally corrected transposition of the great arteries with ventricular septal defect

description: A congenitally corrected transposition of the great arteries with a ventricular septal defect: a hole between the two bottom chambers (ventricles) of the heart. The ventricular septal defect is centered around the most superior aspect of the ventricular septum.


Type II truncus arteriosus

description: Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus.


Type III truncus arteriosus

description: Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta.


Type IV truncus arteriosus

description: Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present.


Interrupted aortic arch type A

description: Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus.


Interrupted aortic arch type B

description: Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries.


Interrupted aortic arch type C

description: Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries.


Abnormal pulmonary situs morphology

description: An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi.


Pulmonary situs inversus

description: Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus.


Pulmonary situs ambiguus

description: An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same.


name: Pulmonary situs ambiguus with bilateral morphologic right lungs

description: An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lung.


name: Pulmonary situs ambiguus with bilateral morphologic left lungs

description: An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a left lung.


Abnormality of abdominal situs

description: An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs.


Gerbode ventricular septal defect

description: A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve.


Inlet ventricular septal defect

description: A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus.


Muscular ventricular septal defect

description: The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle.


name: Apical muscular ventricular septal defect

description: A muscular ventricular septal defect located at the apex of the heart.


name: Multiple muscular ventricular septal defects

description: A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum.


Congenital defect of the pericardium

description: A developmental defect of the pericardium with congenital onset.


Total absence of the pericardium

description: No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy.


name: Complete diaphragmatic absence of pericardium

description: No pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart.


name: Complete right sided absence of pericardium

description: No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy.


name: Partial right sided absence of pericardium

description: A congenital anomaly with lack of part of the pericardium on the righthand side of the heart.


name: Complete left sided absence of pericardium

description: A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart.


name: Partial left sided absence of pericardium

description: A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart.


name: Partial diaphragmatic absence of pericardium

description: Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart.


Abnormal coronary artery origin

description: Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries.


name: Anomalous origin of coronary artery from the pulmonary artery

description: A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta.


name: Anomalous origin of right coronary artery from the pulmonary artery

description: Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve.


Single coronary artery origin

description: The presence of a single coronary artery ostium from which both coronary arteries arise.


Coronary artery fistula

description: A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel.


Abnormal coronary sinus morphology

description: An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium.


Coronary sinus atrial septal defect

description: An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus.


Coronary sinus diverticulum

description: A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus.


Juxtaductal coarctation of the aorta

description: Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch.


Postductal coarctation of the aorta

description: Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch.


name: Patent ductus arteriosus after birth at term

description: Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater.


name: Patent ductus arteriosus after premature birth

description: Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation.


Bilateral ductus arteriosus

description: The presence of both a left and a right ductus arteriosus.


name: Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis

description: A double outlet right ventricle with a subaortic ventricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


name: Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis

description: A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


name: Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis

description: A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


name: Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis

description: A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


name: Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis

description: A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


name: Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis

description: A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


name: Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis

description: A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


name: Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis

description: A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


name: Tetralogy of Fallot with absent pulmonary valve

description: Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue.


name: Anomalous origin of one pulmonary artery from ascending aorta

description: Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle.


name: Anomalous origin of left pulmonary artery from ascending aorta

description: The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery.


Right ventricular cardiomyopathy

description: Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease.


name: Left ventricular noncompaction cardiomyopathy

description: Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.


Absent right superior vena cava

description: Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium.


name: Bilateral superior vena cava with bridging vein


name: Bilateral superior vena cava with no bridging vein


name: Left superior vena cava draining directly to the left atrium

description: A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt.


name: Left superior vena cava draining to coronary sinus

description: A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence.


description: Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava.


Cardiac myxoma

description: A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origin and general project from the endocardium into a cardiac chamber.


Cardiac hemangioma

description: Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium.


Cardiac teratoma

description: A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumor size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone.


name: Tetralogy of Fallot with absent subarterial conus


name: Tetralogy of Fallot with atrioventricular canal defect


name: Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries

description: A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA).


name: Tetralogy of Fallot with pulmonary stenosis

description: The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus.


name: Single ventricle of indeterminate morphology


Subarterial ventricular septal defect

description: A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum.


name: Perimembranous ventricular septal defect

description: A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs.


Restrictive ventricular septal defect

description: Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD.


name: Non-restrictive ventricular septal defect

description: Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD.


Infra-aortic superior vena cava

description: The superior vena cava passes below the aortic arch.


Abnormal coronary artery course

description: An abnormal path of a coronary artery.


AV nodal tachycardia

description: A type of supraventricular tachycardia that originates in the atrioventricular node.


name: Supraventricular tachycardia with an accessory connection mediated pathway

description: Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism.


name: Supraventricular tachycardia with a concealed accessory connection

description: Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed becasue it is not seen on the ECG during sinus rhythm.


name: Permanent junctional reciprocating tachycardia

description: An incessant orthodromic tachycardia with anterograde conduction over the atrioventricular node and by retrograde conduction via an accessory pathway usually located in the posteroseptal region with slow and decremental conduction.


name: Supraventricular tachycardia with a concealed accessory pathway on the left free wall


name: Supraventricular tachycardia with a concealed accessory pathway on the right free wall


name: Supraventricular tachycardia with a concealed accessory pathway on the septum


name: Supraventricular tachycardia with a manifest accessory pathway


Cerebellar hemorrhage

description: Hemorrhage into the parenchyma of the cerebellum.


name: Supraventricular tachycardia with a manifest accessory pathway on the left free wall


name: Supraventricular tachycardia with a manifest accessory pathway on the right free wall


name: Supraventricular tachycardia with a manifest accessory pathway on the septum


Automatic atrial tachycardia

description: Chronic supraventricular tachycardia predominantly seen in childhood.


name: Abnormal electrophysiology of sinoatrial node origin

description: An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart.


Sinus tachycardia

description: Heart rate of greater than 100 beats per minute.


Left anterior fascicular block

description: Conduction block in the anterior division of the left bundle branch of the bundle of His.


Right bundle branch block

description: A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.


Left bundle branch block

description: A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG.


Libman-Sacks lesions

description: Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve.


Trifascicular block

description: Abnormal conduction in all three divisions of the intraventricular conducting tissue.


Atrioventricular reentrant tachycardia

description: Accessory pathway-related atrioventricular reentrant tachycardia (AVRT) involves an abnormal electrical conduction of the accessory pathway. The accessory pathway connecting impulses between the atrium and the ventricle can be seen at any site in the AV groove.


name: Supracardiac total anomalous pulmonary venous connection

description: Type 1 total anomalous pulmonary venous connection.


name: Cardiac total anomalous pulmonary venous connection

description: Type 2 total anomalous pulmonary venous connection.


name: Infracardiac total anomalous pulmonary venous connection

description: Type 3 total anomalous pulmonary venous connection.


name: Mixed total anomalous pulmonary venous connection

description: Type 4 total anomalous pulmonary venous connection.


name: Congenital malformation of the right heart

description: Defect or defects of the morphogenesis of the right heart identifiable at birth.


Peroneal muscle weakness

description: Weakness of the peroneal muscles.


Elbow clonus

description: Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint.


Abnormality of joint mobility

description: An abnormality in the range and ease of motion of joints across their normal range.


Abnormal central sensory function

description: An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord.


name: Abnormality of circulating cortisol level

description: An abnormality of the concentration of cortisol in the blood.


Abnormal adrenal morphology

description: Any structural anomaly of the adrenal glands.


Abnormality of adrenal physiology

description: A functional abnormality of the adrenal glands.


name: Adrenocorticotropin deficient adrenal insufficiency

description: Adrenal insufficiency secondary to a defect in ACTH production.


name: Corticotropin-releasing hormone deficient adrenal insufficiency

description: Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production.


name: Corticotropin-releasing hormone receptor defect

description: Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor.


description: A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone.


description: A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids.


Secondary hyperaldosteronism

description: A form of hyperaldosteronism caused by abnormally increased renin levels.


Ectopic adrenal gland

description: Abnormal anatomical location of the adrenal gland.


Adrenal gland agenesis

description: Absent development of the adrenal gland.


Secondary hypercortisolism

description: Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol.


Non-secretory adrenocortical adenoma

description: An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones.


Secretory adrenocortical adenoma

description: An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones.


Adrenocorticotropic hormone excess

description: Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex.


Neoplasm of the anterior pituitary

description: A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.


name: Abnormal posterior pituitary morphogenesis

description: An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis.


Posterior pituitary dysgenesis

description: Abnormal development of the neurohypophysis during embryonic growth and development.


Posterior pituitary agenesis

description: Absence of the neurohypophysis owing to a developmental defect.


Posterior pituitary hypoplasia

description: Underdevelopment of the neurohypophysis.


Pituitary gonadotropic cell adenoma

description: A type of pituitary adenoma that produces gonadotropins.


Pituitary thyrotropic cell adenoma

description: A type of pituitary adenoma that produces thyroid stimulating hormone (TSH).


Pituitary spindle cell oncocytoma

description: A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular.


Abnormal parathyroid morphology

description: A structural abnormality of the parathyroid gland.


name: Abnormality of the parathyroid physiology

description: A functional abnormality of the parathyroid gland.


Parathyroid dysgenesis

description: Abnormal embryonic development of the parathyroid gland.


Ectopic parathyroid

description: An abnormal anatomical location of the parathyroid gland.


Abnormal thyroid morphology

description: A structural abnormality of the thyroid gland.


Uninodular goiter

description: Enlargement of the thyroid gland related to a singular nodule in the thyroid gland.


name: Thyrotoxicosis from ectopic thyroid tissue


name: Thyrotoxicosis with toxic multinodular goiter


name: Thyrotoxicosis with toxic single thyroid nodule


Increased circulating free T3

description: An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.


name: Impaired sensitivity to thyroid stimulating hormone

description: Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH).


name: Activating thyroid-stimulating hormone receptor defect

description: Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect.


name: Inactivating thyroid-stimulating hormone receptor defect

description: Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect.


Neoplasm by histology

description: Neoplasm categorized according to type of histological abnormality.


Embryonal renal neoplasm

description: The presence of an embryonal neoplasm of the kidney that primarily affects children.


Intralobar nephroblastomatosis

description: Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it).


Perilobar nephroblastomatosis

description: Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar).


Midface retrusion

description: Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.


Enlargement of parotid gland

description: Increased size of the parotid gland.


Hamartoma of tongue

description: A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue.


Abnormal muscle physiology

description: A functional abnormality of a skeletal muscle.


Abnormal skeletal muscle morphology

description: A structural abnormality of a skeletal muscle.


Type 1 muscle fiber atrophy

description: Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy.


Decreased patellar reflex

description: Decreased intensity of the patellar reflex (also known as the knee jerk reflex).


Paradoxical myotonia

description: A type of myotonia that worsens with repeated muscle contractions.


Impaired two-point discrimination

description: A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart.


Impaired touch localization

description: A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip.


Agraphesthesia

description: Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination).


Increased cerebral lipofuscin

description: Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.


Increased urinary hypoxanthine level

description: The concentration of hypoxanthine in the urine, normalized for urine concentration, is above the upper limit of normal.


Submucous cleft soft palate

description: A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue.


Membranous choanal atresia

description: Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike.


Abnormal facial skeleton morphology

description: An abnormality of one or more of the set of bones that make up the facial skeleton.


Broad chin

description: Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue.


Chin with horizontal crease

description: Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest.


Chin with H-shaped crease

description: H-shaped crease in the fat pad of the chin.


Tented philtrum

description: Prominence of a triangular soft tissue area of the philtrum with the apex to the columella.


Philtrum with midline raphe

description: Narrow ridge in the midline of the philtral groove.


Malaligned philtral ridges

description: Absence of the usual parallel position of philtral ridges.


Midline sinus of philtrum

description: Pit in the midline of the philtral groove.


Narrow philtrum

description: Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum.


Abnormal oral mucosa morphology

description: Abnormality of the oral mucosa.


Deviated nasal tip

description: Nasal tip positioned to one side of the midline.


Narrow nasal tip

description: Decrease in width of the nasal tip.


Overhanging nasal tip

description: Positioning of the nasal tip inferior to the nasal base.


Moyamoya phenomenon

description: A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis.


Absent scaphoid

description: Congenital absence of the scaphoid..


Delayed talus ossification

description: Delayed maturation and calcification of the talus.


Partial IgA deficiency

description: Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means.


Abnormal T cell count

description: A deviation from the normal count of T cells.


Abnormality of T cell physiology

description: A functional anomaly of T cells.


Ventricular flutter

description: A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance.


Abnormal skeletal morphology

description: An abnormality of the form, structure, or size of the skeletal system.


Abnormal musculoskeletal physiology

description: An abnormality of the function of the skeletal system.


name: Abnormal appendicular skeleton morphology

description: An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles.


Short second metatarsal

description: Short (hypoplastic) second metatarsal bone.


Abdominal colic

description: A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity.


Abnormal bone ossification

description: Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.


Chylopericardium

description: Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct.


Serous pericardial effusion

description: Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac.


Hemoperitoneum

description: Accumulation of blood in the peritoneal cavity owing to internal hemorrhage.


Pharyngeal edema

description: Abnormal accumulation of fluid leading to swelling of the pharynx.


Reduced factor IX activity

description: Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.


Metaphyseal dappling

description: The presence of spots or rounded patches of abnormally increased density of metaphyseal bone.


Bilateral trilobed lung

description: Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes.


name: Abnormal bone collagen fibril morphology

description: Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity.


Abnormal sternal ossification

description: Any anomaly in the formation of the bony substance of the sternum.


Elevated plasma pyrophosphate

description: An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.


Abnormal iliac wing morphology

description: An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally.


Abnormal platelet function

description: Any anomaly in the function of thrombocytes.


name: Impaired arachidonic acid-induced platelet aggregation

description: Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid.


name: Impaired ristocetin-induced platelet aggregation

description: Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin.


name: Impaired thrombin-induced platelet aggregation

description: Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics).


Abnormal platelet count

description: Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood.


Abnormal platelet morphology

description: An anomaly in platelet form, ultrastructure, or intracellular organelles.


Abnormal platelet volume

description: Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers.


Increased mean platelet volume

description: Average platelet volume above the upper limit of the normal reference interval.


name: Abnormal platelet membrane protein expression

description: Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry.


Decreased platelet glycoprotein Ib-IX-V

description: Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V.


name: Acute disseminated intravascular coagulation

description: An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed.


Decreased platelet glycoprotein VI

description: Decreased cell membrane concentration of glycoprotein VI.


Decreased platelet P2Y12 receptor

description: Decreased cell membrane concentration of P2Y12 receptor.


Abnormal platelet granules

description: An anomaly of alpha or dense granules or platelet lysosomes.


Abnormal umbilical stump bleeding

description: Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth.


Hemorrhage of the eye

description: Bleeding from vessels of the various tissues of the eye.


Hyphema

description: Bleeding in the anterior chamber of the eye.


Choroid hemorrhage

description: Hemorrhage from the vessels of the choroid.


Bleeding requiring red cell transfusion

description: Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4).


Bleeding with minor or no trauma

description: Significant bleeding or hemorrhage without significant precipitating factor.


Prolonged bleeding following procedure

description: Prolonged or protracted bleeding following an invasive procedure or intervention.


Post-partum hemorrhage

description: Significant maternal hemorrhage/blood loss following deilvery of a child.


Abnormal leukocyte count

description: Number of leukocytes per volume of blood beyond normal limits.


name: Impaired thromboxane A2 agonist-induced platelet aggregation

description: Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists.


name: Anemia due to reduced life span of red cells

description: A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days.


Subconjunctival hemorrhage

description: Bleeding beneath the mucous membrane that lines the inner surface of the eyelid.


Neutrophilia

description: Increased number of neutrophils circulating in blood.


Abnormality of circulating fibrinogen

description: An abnormality of the level of activity of circulating fibrinogen.


Hyperfibrinogenemia

description: Increased concentration of fibrinogen in the blood.


Hypofibrinogenemia

description: Decreased concentration of fibrinogen in the blood.


Abnormal hemoglobin

description: Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes.


Persistence of hemoglobin F

description: Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent.


Reduced hemoglobin A

description: Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia.


Reduced beta/alpha synthesis ratio

description: A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia.


Reduced alpha/beta synthesis ratio

description: A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia.


Unilateral radial aplasia

description: Missing radius bone on one side only associated with congenital failure of development.


Flattened metacarpal heads

description: Abnormally flat shape of the heads of the metacarpal bones.


Shortening of all phalanges of fingers

description: Abnormal reduction in length affecting all phalanges.


name: Abnormal metacarpophalangeal joint morphology

description: An anomaly of a metacarpophalangeal joint.


Abnormality of the glenoid fossa

description: An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.


Lumbar hypertrichosis

description: Excessive, increased hair growth located in the lumbar region.


Thoracic hypertrichosis

description: Excessive, increased hair growth located in the thoracic region.


Cardiovascular calcification

description: Abnormal calcification in the cardiovascular system.


Toe extensor amyotrophy

description: Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes.


Short 5th toe

description: Underdevelopment (hypoplasia) of the fifth toe.


Clinodactyly of the 4th toe

description: Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe).


Transudative pleural effusion

description: A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH.


Exudative pleural effusion

description: A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH.


name: Abnormal activity of mitochondrial respiratory chain

description: An increased or decreased activity of the mitochondrial respiratory chain.


name: Decreased activity of mitochondrial complex I

description: A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria.


name: Decreased activity of mitochondrial complex III

description: A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria.


name: Decreased activity of mitochondrial ATP synthase complex

description: A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain.


Proximal placement of hallux

description: Proximal mislocalization of the big toe from its normal position.


Short digit

description: One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened.


Short proximal phalanx of toe

description: Developmental hypoplasia (shortening) of proximal phalanx of toe.


name: Hypersegmentation of proximal phalanx of third finger

description: Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger.


Abnormal cerebellar peduncle morphology

description: An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum.


name: Abnormal superior cerebellar peduncle morphology

description: An anomaly of the superior cerebellar peduncle.


Elongated superior cerebellar peduncle

description: Increased length of the superior cerebellar peduncle.


Dilatation of mesenteric artery

description: Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery .


Decreased urinary urate

description: Decreased concentration of urate in the urine.


Decreased plasma total carnitine

description: A decreased concentration of total carnitine in the blood.


Hypoplastic fifth toenail

description: Underdeveloped nails of the fifth toes.


3-4 finger cutaneous syndactyly

description: A soft tissue continuity in the A/P axis between fingers 3 and 4.


Anterior wedging of T12

description: An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front).


Anterior wedging of L2

description: An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front).


Increased urinary sulfite level

description: The concentration of SO3(2-), i.e., sulfite, in the urine, normalized for urine concentration, is above the upper limit of normal.


Increased urinary thiosulfate

description: Increased concentration of thiosulfate(2-) in the urine.


Small vessel vasculitis

description: A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries.


name: Recurrent acute respiratory tract infection

description: A history of repeated acute infections of the upper or lower respiratory tract.


Acute infectious pneumonia

description: Acute inflammation of the lung due to an infection.


Acute aspiration pneumonia

description: An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.


Hepatic granulomatosis

description: The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.


Intestinal lymphoid nodular hyperplasia

description: A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centers are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centers; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine.


Abnormal pectoral muscle morphology

description: An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major.


name: Unilateral hypoplasia of pectoralis major muscle

description: Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest.


Substantia nigra gliosis

description: Focal proliferation of glial cells in the substantia nigra.


Non-obstructive azoospermia

description: Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.


Obstructive azoospermia

description: Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.


Pretesticular azoospermia

description: Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels.


Intermittent painful muscle spasms

description: History of repeated intermittent involuntary muscle contractions that were painful.


name: Abnormal circulating citrulline concentration

description: Any deviation from the normal concentration of citrulline in the blood circulation.


Elevated plasma citrulline

description: An increased concentration of citrulline in the blood.


name: Decreased circulating copper concentration

description: A reduced concentration of copper in the blood.


Feeding difficulties

description: Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.


name: Elevated circulating luteinizing hormone level

description: An elevated concentration of luteinizing hormone in the blood.


Hypoglycorrhachia

description: Abnormally low glucose concentration in the cerebrospinal fluid.


Paroxysmal lethargy

description: Repeated episodes of sudden-onset and transient lethargy.


Aminoglycoside-induced hearing loss

description: Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics.


Elevated urinary catecholamine level

description: The concentration of a catecholamine in the urine, normalized for urine concentration, is above the upper limit of normal.


Elevated urinary homovanillic acid

description: An increased concentration of homovanillic acid in the urine.


Elevated urinary vanillylmandelic acid

description: An increased concentration of vanillylmandelic acid in the urine.


Elevated urinary dopamine level

description: The concentration of dopamine in the urine, normalized for urine concentration, is above the upper limit of normal.


Cholesterol gallstones

description: Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color.


Pigment gallstones

description: Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration.


Black pigment gallstones

description: A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates.


Brown pigment gallstones

description: A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones.


Atretic gallbladder

description: Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia.


Acholic stools

description: Clay colored stools lacking bile pigment.


Ectopic ossification

description: Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist.


Ectopic ossification in muscle tissue

description: Formation of abnormal bony tissue within muscle tissue.


Ectopic ossification in tendon tissue

description: Formation of abnormal bony tissue within tendon tissue.


Ectopic ossification in ligament tissue

description: Formation of abnormal bony tissue within ligament tissue.


Abnormality of neutrophil physiology

description: A functional abnormality of neutrophils.


Abnormal neutrophil count

description: A deviation from the normal range of neutrophil cell counts in the circulation.


Abnormal neutrophil morphology

description: An abnormal form or size of neutrophils.


name: Impaired neutrophil bactericidal activity

description: A reduction in the ability of neutrophils to kill bacteria.


Abnormal atrial septum morphology

description: An abnormality of the interatrial septum.


Elevated coagulation factor V activity

description: Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex.


Postprandial hyperlactemia

description: Abnormally increased level of blood lactate following a meal.


Postprandial hyperglycemia

description: An increased concentration of glucose in the blood following a meal.


Paranoia

description: An inappropriate feeling of being persecuted or being the subject of hostility from others.


EEG with generalized spikes

description: EEG with generalized sharp transient waves of a duration less than 80 msec.


EEG with generalized polyspikes

description: EEG with repetitive generalized sharp transient waves of a duration less than 80 msec.


Experiential epileptic aura

description: Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.


Affective epileptic aura

description: Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.


name: Focal cognitive seizure with deja vu/jamais vu

description: A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation.


Deja vu aura

description: A subjective feeling that an experience which is occurring for the first time has been experienced before.


Jamais vu aura

description: A subjective feeling that an experience which has occurred before is being experienced for the first time.


name: Focal cognitive seizure with hallucination

description: A focal cognitive seizure characterized by hallucination as the initial semiological manifestation.


Focal cognitive seizure with illusion

description: A focal cognitive seizure characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena as the initial semiological manifestation.


EEG with central focal spike waves

description: EEG with focal sharp transient waves in the central region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.


EEG with frontal focal spike waves

description: EEG with focal sharp transient waves in the frontal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.


EEG with occipital focal spike waves

description: EEG with focal sharp transient waves in the occipital region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.


EEG with parietal focal spike waves

description: EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.


EEG with temporal focal spike waves

description: EEG with focal sharp transient waves in the temporal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.


EEG with central focal spikes

description: EEG with focal sharp transient waves of a duration less than 80 msec in the central region.


EEG with frontal focal spikes

description: EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region.


EEG with occipital focal spikes

description: EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region.


EEG with parietal focal spikes

description: EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region.


EEG with temporal focal spikes

description: EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region.


Lens luxation

description: Complete dislocation of the lens of the eye.


Persistent patent ductus venosus

description: Persistence of blood flow through the ductus venosus for longer than the normal time after birth.


Galactosuria

description: Elevated concentration of galactose in the urine.


name: Abnormal circulating ornithine concentration

description: Deviation from the normal concentration of ornithine in the blood circulation.


Laryngeal edema

description: An abnormal accumulation of fluid and swelling in the tissues of the larynx.


Abnormal urine hormone level

description: An abnormal concentration of a hormone in the urine.


Increased urinary cortisol level

description: Abnormally increased concentration of cortisol in the urine.


Sacral lipoma

description: Presence of a lipoma in the region of the sacrum.


Sternocleidomastoid amyotrophy

description: Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head.


Pectoralis amyotrophy

description: Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor.


Corneal guttata

description: Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible.


Descemet Membrane Folds

description: Presence of folds in the Descemet membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descemet membrane folds are generally a manifestation of inflammation or edema of the cornea.


Corneal stromal edema

description: Abnormal accumulation of fluid and swelling of the stroma of cornea.


Aspirin-induced asthma

description: A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction.


Pendular nystagmus

description: Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.