name: Decreased distal sensory nerve action potential

description: A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies.


Numerous nevi

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


Enlarged brainstem

description: Abnormal increase in size of the brainstem.


name: Sclerosis of the middle phalanx of the 5th finger


toxic diffuse goiter

category: biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing


Low semen volume

description: Volume of semen in ejaculate below the lower limit of normal. This finding can be ascertained by semen analysis. Comment: Sperm are produced within the testis, in the process of spermatogenesis, then travel through the male reproductive tract (the seminiferous tubules, epididymis, vas deferens, prostate and urethra). As the sperm travel, seminal fluid is added from the seminal vesicles, prostate, testis and epididymis and periurethral glands. The function of the ejaculate is to transport sperm into the female genital tract and to provide a suitable environment for sperm survival during this transit.


antecubital pterygium syndrome

description: Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric.


Curvilinear subcortical heterotopia

description: Large subcortical heterotopia of variable morphology wiht streaks and swirls. These always connect to the overlying cortex in at least one, but usually in multiple, locations. Spaces with the signal intensity of CSF are usually seen within the heterotopia.


Biliary hyperplasia

description: Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia.


Mild short stature

description: A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.


Abnormal stomach morphology

description: An abnormality of the stomach.


chordoma

description: Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton.


Megarectum

description: An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum.


name: Abnormal circulating sulfur amino acid concentration

description: Any deviation from the normal concentration of a sulfur amino acid in the blood circulation.


name: Focal aware sensory seizure with cephalic sensation

description: A seizure characterized by a sensation in the head such as light-headedness or headache.


name: Abnormality of the middle phalanx of the 5th toe


name: Duplication of the distal phalanx of hand

description: This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.


Four-vessel umbilical cord

description: Four-vessel umbilical cord containing two arteries and two veins.


Abnormal glial cell morphology

description: An abnormality of the glia cell.


Coronal craniosynostosis

description: Premature closure of the coronal suture of skull.


name: Delay in the acquisition of cooperative play skills

description: Failure to acquire the ability to play cooperatively, a type of play in whichchildren work together towards a common goal and in which a child displays interest both in the play and in the the other child or children involved in playing. This ability is observed in neurotypical children from the age of 3 to 6 years.


Balanced double aortic arch

description: A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch.


Duodenal gastric metaplasia

description: Foci of gastric-type mucus-secreting cells interspersed between duodenal enterocytes. These foci of gastric epithelial cells contain Periodic acid-Schiff (PAS)-positive neutral mucin and lack a brush border.


Abnormal platelet lysosome secretion

description: Abnormal release of lysosome contents from platelets.


Atrioventricular valve regurgitation

description: Regurgitation of a heart valve that controls blood flow from a an atrium to a ventricle, including mitral, tricuspid, or, rarely, single atrioventicular valve.


Localized pulmonary hemorrhage

description: Circumscribed pulmonary hemorrhage originating from a single bleeding site in the lungs. This can be due to infections, tumorigenesis, foreign bodies, or vascular abnormalities. Patient often feel the site of bleeding, contrast CT scan or angiography may localize the bleeder.


Altman type I sacrococcygeal teratoma

description: A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks.


lethal infantile mitochondrial myopathy

description: Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.


name: Mixed total anomalous pulmonary venous connection

description: Type 4 total anomalous pulmonary venous connection.


Sclerosis of skull base

description: Increased bone density of the skull base without significant changes in bony contour.


Areflexia of upper limbs

description: Inability to elicit tendon reflexes in the upper limbs.


Bloodstream infectious agent

description: The presence of an infectious agent in the blood circulation.


Abnormal fetal skeletal morphology

description: An anomalous structural finding of the fetal skeleton. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other terms from the skeletal hierarchy can also be used to describe fetal phenotypes.


Malrotation of colon

description: An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis.


Ectopic pancreatic tissue

description: The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut.


Broad philtrum

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


Abnormal subpleural morphology

description: Any structural anomaly located between the pleura and the chest wall.


Hypoplastic right atrium

description: Underdeveloped, small right heart atrium.


Rounded atelectasis

description: Rounded atelectasis is rounded collapsed lung associated with invaginated fibrotic pleura and thickened and fibrotic interlobular septa. Most frequently, it is the consequence of an asbestos-induced exudative pleural effusion with resultant pleural scarring, but it may occur with any cause of pleural fibrosis. On chest radiographs, rounded atelectasis appears as a mass abutting a pleural surface, usually in the posterior part of a lower lobe. Distorted vessels have a curvilinear disposition as they converge on the mass (the comet tail sign). The degree of lobar retraction depends on the volume of atelectatic lung. It is almost invariably associated with other signs of pleural fibrosis (eg, blunting of costophrenic angle). CT is more sensitive for the detection and display of the characteristic features of rounded atelectasis. An additional sign is homogeneous uptake of contrast medium in the atelectatic lung.


Neck hypertonia

description: Increased passive stiffness or tightness of the neck musculature.


Intrahepatic biliary atresia

description: Atresia in the intrahepatic bile duct.


name: Anti-Complement factor H antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against complement factor H.


name: Use of another person's body to communicate

description: Moving another person's hand, body part, or body to communicate a desire, e.g. pushing or pulling someone toward a desired object or placing someone's hand on something.


High, narrow palate

description: The presence of a high and narrow palate.


Progeroid facial appearance

description: A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance.


Anti-beta fodrin antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a component of beta-fodrin.


Broad femoral neck

description: An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).


dysgammaglobulinemia

description: An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins.


name: Increased level of gamma-aminobutyric acid in urine

description: Elevated concentration of gamma-aminobutyric acid in the urine.


Right ventricular dilatation

description: Enlargement of the chamber of the right ventricle.


name: Abnormal bronchoalveolar fluid protein level

description: Any deviation from the normal concentration of protein in the bronchoalveolar fluid.


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.


Thin lower lip vermilion

description: Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective).


Delayed ossification of the scaphoid

description: Formation of bone tissue of scaphoid is less than expected for age.


Decreased thalamic volume

description: A reduction in the quantity of space occupied by the thalamus.


Absent middle phalanx of 3rd finger

description: Absence of the middle phalanx of the middle (3rd) finger.


cobblestone lissencephaly

description: Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent.


Jugular foramen stenosis

description: Reduction in diameter of the jugular foramen, an opening in the base of the skull that is located behind the carotid canal and is formed by the temporal bone and the occipital bone. The inferior petrosal sinus, three cranial nerves, the sigmoid sinus, and meningeal arteries pass through the jugular foramen.


Bilateral talipes equinovarus

description: Bilateral clubfoot deformity.


Delayed menarche

description: First period after the age of 15 years.


Polyclonal elevation of IgM

description: A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis.


name: Abnormal male reproductive system physiology

description: An abnormal functionality of the male genital system.


Brittle scalp hair

description: Fragile, easily breakable scalp hair.


monilethrix

description: Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.


Myokymia

description: Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.


Inappropriate laughter

description: Laughing that may be excessive and/or inappropriate in context (e.g., laughing at a funeral while others are crying).


Distal widening of metacarpals

description: Abnormal increase in width of the distal region of the metacarpal bones.


name: Perisylvian predominant thick cortex pachygyria

description: Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.


Elevated circulating rT3/T3 ratio

description: An abnormally increased ratio of the concentrations of reverse T3 to T3 in the blood circulation.


name: Decreased circulating androgen concentration

description: A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.


acoustic neuroma

description: A type of benign brain tumor that begins in the Schwann cells, which produce the myelin that protects the acoustic nerve - the nerve of hearing.


name: Congenital hypertrophy of left ventricle


name: Increased circulating 18-hydroxycortisone level

description: An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation.


Primary vesicoureteral reflux

description: Vesicoureteral reflux due to abnormalities in ureterovesical junction, e.g. ectopic insertion of the ureter or short intravesical tunnel at the ureterovesical junction.


name: Sclerosis of hand bones with transverse striations


Abnormal ventricular filling

description: An abnormality of filling of a ventricle with blood during diastole.


Hippocampal microinfarct

description: An infarct located in the structure of the cerebrum involved with memory storage and spatial navigation that can only be observed microscopically.


name: Anti-Gerbich phenotype 1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ge-1.


name: Triangular shaped middle phalanx of the 5th finger

description: Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Multinucleated neuron

description: Neurons that contain more than one nucleus.


Neonatal electro-clinical motor seizure

description: Neonatal electro-clinical motor seizure is a type of neonatal electro-clinical seizure with predominant motor features.


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


name: Triangular shaped proximal phalanges of the hand


Abnormal renal vascular morphology

description: Anomalous structure of a blood vessel in the kidney.


Torus palatinus

description: A bony protrusion present on the midline of the hard palate.


Imperforate atrioventricular valve

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


name: Partial duplication of the proximal phalanx of the 5th finger

description: Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.


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.


Unicoronal synostosis

description: Synostosis affecting only one of the coronal sutures.


name: Fractured epiphysis of third metatarsal bone

description: A partial or complete breakage of the epiphysis of third metatarsal bone.


name: Ivory epiphysis of the proximal phalanx of the 5th toe


hereditary episodic ataxia

description: Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2.


Deviation of the hallux

description: Displacement of the big toe from its normal position.


name: Focal autonomic seizure with lacrimation

description: A type of focal autonomic seizure characterized by lacrimation as the initial semiological feature.


Rheumatoid factor positive

description: The presence in the serum of an autoantibody directed against the Fc portion of IgG.


name: Increased erythrocyte uroproporphyrin concentration

description: Concentration of uroproporphyrin in erythrocytes above the upper limit of normal.


name: Focal impaired awareness emotional seizure with crying

description: Focal emotional seizure with crying in which awareness is partially or fully impaired at some point during the seizure.


Intestinal duplication

description: A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine.


name: Increased urinary fucosylated oligosaccharide

description: An abnormal increase in the concentration of small fucosylated oligosaccharides in the urine.


Decreased palmar creases

description: Poorly defined or shallow palmar creases.


Elbow flexion contracture

description: An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.


Mandibular osteomyelitis

description: Osteomyelitis of the lower jaw.


Stiff toe

description: A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity.


Prevertebral space enlargement

description: Increase in the anterior posterior dimension of the prevertebral space, which is located in the neck region between the anterior part of the cervical spine and the deep layer of the deep cervical fascia running between the transverse processes of the spine.


name: Sclerosis of the distal phalanx of the 2nd finger


name: Curved proximal phalanx of the 5th finger

description: Curved appearance of the proximal phalanx of the 5th finger.


Proximal muscle weakness

description: A lack of strength of the proximal muscles.


Hallux valgus

description: Lateral deviation of the great toe (i.e., in the direction of the little toe).


Absent dermoepidermal hemidesmosomes

description: Lack of demonstrable hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin.


Fractured lateral malleolus of fibula

description: A partial or complete breakage of the lateral malleolus of fibula.


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.


description: Abnormal proportion of immature gamma-delta T cells relative to the total number of T cells.


Bladder trabeculation

description: Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface.


Abnormal lymphocyte proliferation

description: Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population.


Reduced alpha-2-antiplasmin activity

description: Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis.


dentin dysplasia

description: Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II.


T2 hypointense brainstem

description: A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem.


Narrow pelvis bone

description: Reduced side to side width of the pelvis.


name: Anti-granulocyte-macrophage colony stimulating factor antibody positivity

description: The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor.


Eclabion

description: A turning outward of the lip or lips, that is, eversion of the lips.


Facial hypertrichosis

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


description: A reduction of the distance between thoracolumbar vertebral pedicles.


odontoid hypoplasia

description: An often asymptomatic developmental abnormality of the cervical spine. It is characterized by the hypoplasia of the odontoid which appears as a stubby peg of an odontoid process. Symptoms may develop after minor trauma and include localized neck pain, atlantoaxial instability, and transient or permanent neurologic manifestations.


Flexion contracture of the 5th toe

description: One or more bent (flexed) joints of the fifth toe that cannot be straightened actively or passively.


Slender ulna

description: Reduction in diameter of the ulna.


name: autosomal recessive nonsyndromic hearing loss 4

description: An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22. Mutation in the FOXI1 gene has been found to be a rare cause of EVA. EVA may also be rarely caused by digenic inheritance of heterozygous mutations in the SLC26A4 and FOXI1 genes, or in the SLC26A4 and KCNJ10 genes.


Abnormal upper motor neuron morphology

description: Any structural anomaly that affects the upper motor neuron.


Myocardial immune cell infiltration

description: An increase in the number of immune cells in myocardial tissue (which can be assumed to have migrated into the myocardium).


name: Medullary peritubular capillary lumen cholesterol emboli

description: Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the medulla of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.


Glomerular immune-complex deposition

description: Accumulation of immune deposits, containing immunoglobulins, complement, and other proteins, at various intraglomerular locations. This can lead to glomerulonephritis, with the type of injury that results being dependent on four factors: the mechanism of the deposit formation, the site of deposit formation, the composition of the deposits and the amount of the deposits.


Abnormality of the tongue

description: Any abnormality of the tongue.


Gastrointestinal dysmotility

description: Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.


Fatty streak

description: Yellow-colored streaks, patches, or spots on the intimal surface of arteries. Fatty streaks stain red with Sudan III or Sudan IV.


Finger hyperphalangy

description: Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a digit. That is, there is an accessory phalanx that is arranged linearly with the other phalanges.


Arcuate artery intimal mucoid edema

description: Accumulation of edematous extracellular matrix in intima resembling mucus. This feature appears pale blue on hematoxylin and eosin staining.


Aplasia of the 1st metacarpal

description: Absent first metacarpal (long bone) of the hand.


Abnormal jejunum morphology

description: An abnormality of the jejunum, i.e., of the middle section of the small intestine.


name: Decreased circulating ficolin 3 concentration

description: Concentration of ficolin 3 in the blood circulation below the lower limit of normal.


Diminished breath sounds

description: A reduction in the intensity of the breath sound as ascertained by auscultation of the lung.


name: Patchy sclerosis of the proximal phalanx of the 2nd finger

description: Uneven (irregular) increase in bone density of the proximal phalanx of the second finger.


Chronotropic incompetence

description: Inability of the heart to increase its rate commensurate with increased activity or demand.


Bathrocephaly

description: A deformity of the posterior skull with bulging of the midportion of the occipital bone that is often associated with a benign variant of the mendosal suture.


Decreased serum thromboxane B2

description: A reduction in the concentration of thromboxane B2 in the blood circulation.


Platyspondyly

description: A flattened vertebral body shape with reduced distance between the vertebral endplates.


D-2-hydroxyglutaric aciduria

description: D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.


Elevated urine glycolate

description: An increased concentration of glycolate in the urine.


Pulmonary arterial medial hypertrophy

description: Increase in mass of the tunica media of the arteries in the pulmonary circulation.


Aganglionosis of the small intestine

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


name: Percussion-induced rapid rolling muscle contractions

description: Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle.


Curved distal phalanx of the hallux

description: A deviation from the normal straight form of the distal phalanx of the big toe.


Focal verbal automatism seizure

description: A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset.


4-Hydroxyphenylpyruvic aciduria

description: Increased relative concentration of 4-hydroxyphenylpyruvic acid in the urine.


Y-shaped metacarpals

description: Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly.


Progressive leg bowing

description: Progressive bending or abnormal curvature of the leg.


Abnormal functional residual capacity

description: A deviation from normal values for the functional residual capacity, which is defined as the volume remaining in the lungs after a normal, passive exhalation.


name: Decreased CSF 3-methoxy-4-hydroxyphenylglycolaldehyde concentration

description: The concentration of 3-methoxy-4-hydroxyphenylglycolaldehyde in the cerebrospinal fluid (CSF) is below the lower limit of normal.


name: Positive enterovirus urine nucleic acid test

description: Detection of enterovirus nucleic acid in the urine by a method such as polymerase chain reaction.


name: Aplasia/Hypoplasia of the 5th metacarpal

description: Aplasia or Hypoplasia affecting the 5th metacarpal.


Quadriceps muscle atrophy

description: Muscular atrophy involving the quadriceps muscle.


name: Pseudoepiphysis of the middle phalanx of the 5th toe

description: A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fifth toe.


Ungual fibroma

description: Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold) or subungual (originating under the nail plate).


name: Abnormal pulmonary thoracic imaging finding

description: This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density.


Exercise-induced U wave inversion

description: U wave inversion that is induced by exercise stress testing.


name: Agenesis of permanent maxillary lateral incisor

description: Agenesis of one or more upper lateral secondary incisor.


name: Elevated circulating pristanic acid concentration

description: Concentration of pristanic acid in the blood circulation above the upper limit of normal.


Abnormal pericardium morphology

description: An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery.


Extremely elevated creatine kinase

description: An increased creatine kinase level more than 50X above the upper normal level.


Labial adhesion

description: Synechia vulvae (adhesions of the labia minora) are characterized by a complete or partial fusion of the labia minora in the midline.


Bradylalia

description: Slow speech.


name: Triangular shaped proximal phalanx of the 5th finger

description: Triangular shaped proximal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


3-4 finger syndactyly

description: Syndactyly with fusion of fingers three and four.


Hyperchloremic metabolic acidosis

description: A form of metabolic acidosis with increased serum chloride levels.


name: Compound motor action potential abnormality

description: An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibers in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fiber action potentials. The shortest latency of the CMAP is the time from stimulus artifact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV).


name: Elevated circulating lysophosphatidylcholine concentration

description: The concentration of lysophosphatidylcholines in the blood circulation is above the upper limit of normal.


Distal amyotrophy

description: Muscular atrophy affecting muscles in the distal portions of the extremities.


2--hydroxyphenylacetic aciduria

description: Increased concentration of 2-hydroxyphenylacetic acid in the urine.


Purely bicuspid aortic valve

description: A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis.


Autoamputation

description: Auto-amputation is the spontaneous detachment of an appendage from the body due to long standing pathology.


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.


Abnormal fingertip morphology

description: An abnormal structure of the tip (end) of a finger.


Rachitic rosary

description: A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib.


Myocardial sarcomeric disarray

description: A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and actin that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes.


name: Cortical irregularity of humeral diaphysis

description: An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus.


Aplasia/Hypoplasia of the earlobes

description: Absence or underdevelopment of the ear lobes.


name: Abnormality of the phalanges of the 5th toe


Curved distal phalanx of the 2nd toe

description: A deviation from the normal straight form of the distal phalanx of the 2nd toe.


name: Muscle hypertrophy of the lower extremities

description: Muscle hypertrophy primarily affecting the legs.


name: Thinning of outer muscular layer of small bowel

description: The depth of the outer muscular layer of the small bowel is below the lower limit of normal.


Asymmetric limb muscle stiffness

description: Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern.


name: Absence of renal corticomedullary differentiation

description: A lack of differentiation between renal cortex and medulla on diagnostic imaging.


name: Partial duplication of the distal phalanx of the 3rd toe

description: Partial duplication of distal phalanx of third toe.


Hypoplastic ilia

description: Underdevelopment of the ilium.


Anteriorly placed odontoid process

description: Anterior mislocalization of the dens of the axis.


Seminal vesicle agenesis

description: A developmental defect characterized by congenital absence of the seminal vesicle.


Toe clinodactyly

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


name: Focal aware cognitive seizure with auditory agnosia

description: A focal cognitive seizure with auditory agnosia characterized by retained awareness throughout the seizure.


name: Abnormality of the distal phalanx of the 3rd toe


Visceral hemangioma

description: A hemangioma arising from within visceral structures, the internal organs of the body.


name: Diminished integration of verbal and non-verbal communicative behavior

description: A communicative abnormality where one's nonverbal and verbal communication are poorly integrated. This may occur when verbal and nonverbal communication are intact alone but are abnormal when used together, or an abnormality in the use of typically integrated communication such as the use of beat gestures during speech.


Intratubular calcium phosphate casts

description: Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney.


Spinal neurenteric cyst

description: A neurenteric cyst located in the spine.


Anti-GD1b IgM antibody positivity

description: The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside.


name: Atrophy/Degeneration involving the caudate nucleus


name: Anti-nuclear matrix protein-2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NXP-2.


Oligosacchariduria

description: Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins.


Amniotic constriction rings of legs

description: Amniotic constriction rings affecting the legs.


Mesangial fibrillary deposits

description: Extracellular mesangial aggregates composed of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material.


Thin spermatozoon midpiece

description: The cross-sectional size (diameter) of the midpiece of the spermatozoon is below the lower limit of normal. This term applies if the proportion of spermatozoa with this defect is above the upper limit of normal.


Limb apraxia

description: Difficulty in performing the correct execution of limbs movements in absence of motor impairment.


Abnormality of genioglossus muscle

description: An abnormality of a genioglossus muscle.


Joint contracture of the 3rd finger

description: Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected.


Abnormal ossification of the pubic bone

description: Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis.


Prefrontal hypometabolism in FDG PET

description: Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the prefrontal cortex as measured by positron emission tomography (PET) brain scan.


Abnormal femoral neck morphology

description: An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).


name: Intrahepatic cholestasis with episodic jaundice


Reticulate pigmentation of oral mucosa

description: A net-like pattern of increased pigmentation of the oral cavity.


Corpus callosum atrophy

description: The presence of atrophy (wasting) of the corpus callosum.


Multiple meningiomas

description: The occurrence of multiple distinct meningiomas in the same individual.


name: Aplasia of the proximal phalanx of the hallux


Abnormal CSF histidine concentration

description: Any deviation from the normal concentration of histidine in the cerebrospinal fluid.


Postexertional symptom exacerbation

description: Post-exertional symptom exacerbation (PESE), also referred to as post-exertional malaise (PEM), is defined as the worsening of symptoms that can follow minimal cognitive, physical, emotional, or social activity, or activity that could previously be tolerated. Symptoms typically worsen 12 to 72 hours after activity and can last for days or even weeks, sometimes leading to a relapse.


Antiparietal cell antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against parietal cell antigens.


conotruncal heart malformations

description: Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).


Sacral hypertrichosis

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


Aplasia/Hypoplasia of the thymus

description: Absence or underdevelopment of the thymus.


Elevated mean arterial pressure

description: An abnormal increase in the average blood pressure in an individual during a single cardiac cycle.


Recurrent protozoan infections

description: Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection.


Paranasal sinus hypoplasia

description: Underdevelopment of the paranasal sinuses.


Palmar neurofibroma

description: A neurofibroma (benign peripheral nerve sheath tumor) localized in the palm of the hand.


name: Bracket epiphysis of the distal phalanx of the 5th finger

description: An abnormality of the distal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.


Patchy sclerosis of 2nd toe phalanx

description: Patchy (irregular) increase in bone density of one or more of the phalanges of the second toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.


name: Abnormal circulating tryptophan concentration

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


name: Ulnar deviation of the hand or of fingers of the hand


Chondroitin sulfate excretion in urine

description: An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine.


name: Stippling of the epiphysis of the distal phalanx of the 3rd finger

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger.


Urticarial plaque

description: A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter.


name: Irregular epiphysis of the distal phalanx of the 2nd finger

description: Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger.


Superior crossed-fused renal ectopia

description: A type of cross fused renal ectopia in which the ectopic kidney lies superiorly and its lower pole fuses with the upper pole of the normal kidney. The renal pelvis of both kidneys lies anteriorly.


Gastrocnemius myalgia

description: Pain of the gastrocnemius muscle.


Multiflagellar spermatozoa

description: Spermatozoa with multiple flagella attached to the sperm head.


name: Childhood onset sensorineural hearing impairment

description: Sensorineural hearing impairment with childhood onset.


Broad forearm bones

description: Abnormally wide bone of the skeleton of forearm.


Mirror image foot polydactyly

description: Mirror image duplication of digits affecting the feet.


Paraspinal neurofibroma

description: A neurofibroma (benign peripheral nerve sheath tumor) localized adjacent to the spine.


Low 10-minute APGAR score

description: A normal APGAR score can be coded as 'not Low 10-minute APGAR score'.


Basal lamina onion bulb formation

description: A type of onion bulb formation prominently affecting the area of the basal lamina.


name: Elevated CSF neurofilament light chain concentration

description: Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large caliber myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases.


name: Recurrent gram-negative bacterial infections

description: Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents.


name: Duplication of the distal phalanx of the hallux


Cone-shaped capital femoral epiphysis

description: A cone-shaped deformity of the proximal epiphysis of the femur.


Right ventricular regional dyskinesia

description: A region of the right ventricle exhibits abnormal contraction (dyskinesia) compared to the rest of the ventricle, leading to outward bulging or ballooning during contraction or inadequate inward movement.


Semilunar tooth

description: An incisor with a half-moon shape incisal edge.


name: Aplasia/Hypoplasia involving bones of the skull


Extension contracture of toe

description: A type of toe joint contracture in which the joint lacks full expected flexion, so that the two bony segments on either side of their connecting joint cannot be brought together.


name: Abnormality of the distal phalanx of the 2nd finger


Abnormality of skin adnexa physiology

description: Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.


name: Increased erythrocyte coproporphyrin concentration

description: Concentration of coproporphyrin in erythrocytes above the upper limit of normal.


name: Cone-shaped epiphysis of the proximal phalanx of the 4th finger

description: A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.


name: Focal impaired awareness cognitive seizure with dysgraphia/agraphia

description: A focal cognitive seizure with dysgraphia / agraphia characterized by impairment of awareness at some point during the seizure.


Ollier disease

description: A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones.


name: Abnormal circulating nicotinurate concentration

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


name: Osteolytic defects of the proximal phalanx of the 4th finger

description: Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger.


name: Bracket epiphysis of the middle phalanx of the 2nd finger

description: An abnormality of the middle phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.


name: Patchy sclerosis of the distal phalanx of the 2nd toe


Peripheral pulmonary artery stenosis

description: Stenosis of a peripheral branch of the pulmonary artery.


Telangiectasia of the skin

description: Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.


Reduced subcutaneous adipose tissue

description: A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness.


Hammertoe

description: Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.


Delayed ossification of pubic rami

description: Delayed maturation and calcification of the rami (branches) of the pubic bone.


Arcuate intimal/medial venulitis

description: Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural.


name: Excessive insulin response to glucagon test

description: An abnormally high increase in insulin levels following a glucagon stimulation test.


Elevated carcinoma antigen 125 level

description: An increased blood concentration of carcinoma antigen 125 (CA-125). CA-125, also known as mucin 16, can exhibit increased blood levels in certain types of cancer.


Deep palmar crease

description: Excessively deep creases of the palm.


Periungual teleangiectasia

description: Telangiectasia (small dilated blood vessels) located near to the fingernails or toenails.


Branched-chain aminoaciduria

description: An increased level of a branched chain family amino acid in the urine.


Reduced CSF cystine concentration

description: Concentration of cystine in the cerebrospinal fluid below the lower limit of normal. Cystine is sulfur-containing amino acid obtained by the oxidation of two cysteine molecules which are then linked via a disulfide bond.


Tapered phalanx of finger

description: Phalanges of the fingers becoming thinner toward the distal end.


Alveolar septal thickening

description: Increased width of the alveolar septum, which is the structure that separates neighboring alveoli. This finding can be appreciated on histology.


name: Increased circulating specific IgE antibody


Deficit in nonword repetition

description: Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory.


Airway mucosal thickening

description: Increase in thickness of the mucosa of the airways above the upper limit of normal.


name: Decreased circulating transcobalamin II concentration

description: Concentration of transcobalamin II in the blood circulation below the lower limit of normal.


Renal sodium wasting

description: An abnormally increased sodium concentration in the urine in the presence of hyponatremia.


Femoral arterial calcification

description: An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the femoral artery.


Coronary sinus diverticulum

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


Basilar impression

description: Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum.


name: Partial absence of specific antibody response to meningococcus vaccine

description: A reduced ability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination.


name: Abnormal proportion of naive CD4 T cells

description: Any abnormality in the proportion of naive CD4 T cells relative to the total number of T cells.


Small foramen magnum

description: An abnormal narrowing of the foramen magnum.


name: Abnormal pituitary glycoprotein hormone alpha subunit level

description: Any deviation from the normal concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081).


Focal-onset epileptic spasm

description: A type of epileptic spasm of focal onset.


Myotonia of the jaw

description: Slowed relaxation of muscles in the jaw.


name: Increased circulating fetuin A concentration

description: An elevation above normal of fetuin A in the blood circulation.


eosinophilic fasciitis

description: Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed.


Moderate expressive language delay

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


Anti-D-L antibody positivity

description: The presence of Donath-Landsteiner (D-L) autoantibodies (immunoglobulins) in the serum.


Enlarged vertebral pedicles

description: Increased size of the vertebral pedicle.


Finger syndactyly

description: Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism".


Continuous involuntary vocalizations

description: Continuous groaning, moaning, grunting, and shrieking.


name: Elevated urinary N-tau-ribosylhistidine level

description: Presence of N tau-ribosylhistidine (His-R) in the urine. His-R is a histidine derivative found in the urine of histidinemic patients.


Second toe symphalangism

description: Fusion of the interphalangeal joints of the 2nd toe.


occipital encephalocele

description: A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.


Exercise-induced myalgia

description: The occurrence of an unusually high amount of muscle pain following exercise.


name: Reduced respiratory ciliary beating frequency

description: An abnormal reduction in the number of beats per unit time of the respiratory cilia.


Ventriculomegaly

description: An increase in size of the ventricular system of the brain.


name: Patchy sclerosis of the proximal phalanx of the 2nd toe


name: Anti-beta-2-Glycoprotein I IgM antibody positivity

description: Presence of IgM antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome.


Labial melanotic macule

description: Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture.


name: Fetal intraventricular hemorrhage without ventriculomegaly

description: A type of fetal intraventricular hemorrhage characterized by clear hemorrhage spillover to the ventricles filling less than 50% of the lateral ventricle and without ventriculomegaly of greater than 15 mm in the transverse diameter of the lateral ventricular atrium.


Subchorionic thrombohematoma

description: A large maternal clot that separates the chorionic plate from the villous chorion.


Abnormal tendon morphology

description: An abnormality of the structure or form of the tendons, also often called sinews.


name: Fractured middle phalanx of manual digit 4

description: A partial or complete breakage of the middle phalanx of manual digit 4.


Increased circulating T4 concentration

description: An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).


Nephroblastomatosis

description: Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood.


name: Abnormality of the epiphysis of the proximal phalanx of the 2nd finger


Chronic decreased circulating IgE

description: A lasting reduction beneath the normal level of total immunoglobulin E (IgE) in the blood.


Non-motor seizure

description: A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown.


name: Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal

description: Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal.


Acromelia of the upper limbs

description: Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments.


Anti-GT1b antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1b ganglioside.


Lupus anticoagulant

description: Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces.


Vertebrobasilar dolichoectasia

description: Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm.


name: Increased proportion of immature B cells

description: An elevation in the proportion above normal of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).


Bacteria in cerebrospinal fluid

description: Presence of bacteria in the cerebrospinal fluid, as manifested by visual inspection or bacterial culture results.


Cleft lip

description: A gap in the lip or lips.


name: Reduced circulating complement factor H related protein 1 concentration

description: Decreased level of circulating complement factor H related protein 1 concentration in the blood circulation.


adrenal cortex neoplasm

description: A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05)


Cutaneous hamartoma

description: A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin.


Decreased HDL3c concentration

description: A reduction below the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.


Unilateral cryptorchidism

description: Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.


tricuspid valve insufficiency

description: The backflow of blood from the right ventricle into the right atrium, owning to imperfect functioning/insufficiency of the tricuspid valve.


rhabdomyosarcoma

description: A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites.


name: Increased left ventricular end-diastolic volume

description: Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole).


benign urinary system neoplasm

description: A non-metastasizing neoplasm that arises from the organs that comprise the urinary system. Representative examples include renal oncocytoma, bladder inverted papilloma, and urothelial papilloma.


Focal cortical dysplasia type IIId

description: A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to other lesions acquired during early life (not included into FCD Type IIIa-c). These lesions comprise a large spectrum including traumatic brain injury, glial scarring after prenatal or perinatal ischemic injury or bleeding, and inflammatory or infectious diseases, i.e. Rasmussen encephalitis, limbic encephalitis, bacterial or viral infections.


second branchial cleft anomaly

description: A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck.


Femoral spur

description: A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck.


name: Absent circulating immunoglobulin kappa chain

description: Nondetectable kappa chain in the blood circulation.


Short distal phalanx of hallux

description: Underdevelopment (hypoplasia) of the distal phalanx of big toe.


congenital velopharyngeal incompetence

description: Failure of the soft palate to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (adenoidectomy; cleft palate) or an incompetent palatopharyngeal sphincter. It is characterized by hypernasal speech.


Reduced delayed hypersensitivity

description: Decreased ability to react to a delayed hypersensitivity skin test.


akinetic mutism

description: A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral frontal lobe dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. (From Adams et al., Principles of Neurology, 6th ed, p348; Fortschr Neurol Psychiatr 1995 Feb;63(2):59-67)


name: Decreased circulating apolipoprotein B concentration

description: Reduced circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100.


Flared lower limb metaphysis

description: The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg.


atypical teratoid rhabdoid tumor

description: Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children.


name: Elevated circulating hexanoylcarnitine concentration

description: Concentration of hexanoylcarnitine in the blood circulation above the upper limit of normal.


Abnormal interlobular vein morphology

description: Any structural anomaly of the interlobular veins of the kidney. An interlobular vein is surrounded by the renal cortex and located between renal lobules (consisting of the nephrons surrounding a single medullary ray and draining into a single collecting duct).


Reduced vital capacity

description: An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung.


Distal femoral bowing

description: A bending or abnormal curvature of the distal portion of the femur.


name: Aplasia/Hypoplasia of the phalanges of the 3rd finger


name: Fragmentation of the epiphysis of the middle phalanx of the 4th finger

description: Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger.


Abnormal CSF urate concentration

description: Abnormal concentration of urate in the cerebrospinal fluid (CSF).


mediastinum teratoma

description: A teratoma that involves the mediastinum.


Urethral stricture

description: Narrowing of the urethra associated with inflammation or scar tissue.


name: Abnormal blood transition element cation concentration

description: An abnormality of the homeostasis (concentration) of transition element cation.


Neonatal short-limb short stature

description: A type of short-limbed dwarfism that is manifest beginning in the neonatal period.


name: Abnormal atrioventricular valve physiology

description: Any functional defect of the mitral or tricuspid valve.


Abnormal gametogenesis

description: An anomaly in the process by a a haploid cell is formed from a diploid cells through meiosis. In males, diploid spermatogonia produce two haploid cells (secondary spermatocytes) in meiosis I and four haploid spermatids in meiosis II. In females, primordial germ cells under meiosis II before birth to form primary oocytes. Once puberty cell begins, these cells form secondary oocytes through meiosis II.


name: Widely-spaced maxillary central incisors

description: Increased distance between the maxillary central permanent incisor tooth.


Paroxysmal rectal pain

description: Excruciating burning pain in the rectal area that may be triggered by defecation.


name: Increased circulating ferritin concentration

description: Increased concentration of ferritin in the blood circulation.


name: Triangular epiphyses of the phalanges of the hand

description: A triangular appearance of the epiphyses of the phalanges of the fingers of the hand.


Carotid cavernous fistula

description: An abnormal connection between a carotid artery and the cavernous sinus.


name: Narrow anterio-posterior vertebral body diameter

description: An abnormal reduction of the anterioposterior diameter of the vertebral body.


Abnormal position of hair whorl

description: Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull.


name: Elevated urine guanidinoacetic acid level

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


name: Symphalangism affecting the proximal phalanges of the toes


name: Hypothalamic luteinizing hormone-releasing hormone deficiency

description: Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus.


name: Elevated circulating lathosterol concentration

description: Concentration of lathosterol in the blood circulation above the upper limit of normal.


Type 3 schizencephaly

description: A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal gray matter.


Elevated plasma cell count

description: An abnormally high number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.


Episodic vomiting

description: Paroxysmal, recurrent episodes of vomiting.


name: X-linked hypohidrotic ectodermal dysplasia

description: An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin.


Agenesis of the anterior commissure

description: Absence of the anterior commissure.


Short clavicles

description: Reduced length of the clavicles.


Abnormal corpus callosum morphology

description: Abnormality of the corpus callosum.


name: Focal aware cognitive seizure with conduction dysphasia/aphasia

description: A focal cognitive seizure with conduction dysphasia / aphasia characterized by retained awareness throughout the seizure.


Interlobular intima/media venosclerosis

description: Thickening of the intima with fibrosis and/or duplication of the elastic lamina in interlobular veins of the kidney.


Adverse drug response

description: An unpleasant or harmful reaction resulting from treatment with a drug.


Advanced tarsal ossification

description: Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.


Delivery by Odon device

description: The Odon device is an instrument for assisted vaginal deliveries that is applied on the head of the baby and used to apply traction to assist the birth process.


Enlarged hippocampus

description: Increase in size of the hippocampus.


Intratubular bilirubin casts

description: A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On H&E (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green).


name: Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells

description: An abnormal proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.


name: Enlarged epiphysis of the distal phalanx of the hallux


name: Arteriovenous fistulas of celiac and mesenteric vessels


Abnormal peritoneum morphology

description: An abnormality of the peritoneum.


Abnormality of head or neck

description: An abnormality of head and neck.


name: Ivory epiphysis of the middle phalanx of the 5th toe


exercise-induced malignant hyperthermia

description: Malignant hyperthermia that is characterized by exercise-induced life-threatening hyperthermia with a body temperature over 40 degrees C and signs of encephalopathy ranging from confusion to convulsions or coma. Incidence increases with rising ambient temperature and relative humidity. Manifestations may include rhabdomyolysis (presenting with myalgia, muscle weakness, and myoglobinuria), tachycardia, and in severe cases multiorgan failure.


Metacarpophalangeal joint contracture

description: A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.


Upper limb muscle weakness

description: Weakness of the muscles of the arms.


Anterior creases of earlobe

description: Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe.


Patchy sclerosis of 5th finger phalanx

description: Uneven increase in bone density of one or more of the phalanges of the 5th finger.


Receptive language delay

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


name: Difficulty understanding nonliteral meaning of conversation


Anti-HLA-B antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-B (HLA-B).


name: Absent epiphysis of the proximal phalanx of the thumb

description: Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Reduced prothrombin consumption

description: The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia.


Intellectual disability, borderline

description: Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.


superficial spreading melanoma

description: A type of melanoma that typically occurs in light-skinned individuals ranging in age from young adults to the elderly. Risk factors include extensive sun exposure during childhood, a family history of melanoma, and the presence of dysplastic nevi.


Fusiform aortic arch aneurysm

description: A concentric abnormal localized widening (dilatation) of the aortic arch that involves the full circumference of the vessel wall.


Absent scrotum

description: Congenital absence of the scrotum.


name: Osteolysis involving bones of the upper limbs


Anti-SOX1 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SOX1. Anti-SOX1 antibodies, also known as antiglial nuclear antibody (AGNA), are specifically found in paraneoplastic neurological disorders. Since SOX1 is expressed in neuronal precursor cells in the developing central nervous system, it has been used as an early marker of neural stem cells.


name: Ventilator dependence with inability to wean


teeth, fused

description: The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch.


Bronchial artery hypertrophy

description: Increase in the volume of bronchial artery wall due to the enlargement of its component cells.


Lemon sign

description: The lemon sign refers to the shape of the fetal skull at ultrasonography (US) when the frontal bones lose their normal convex contour and appear flattened or inwardly scalloped. This gives the skull a shape that is said to resemble a lemon.. The sign is seen on transverse sonograms of the fetal cranium obtained at the level of the ventricles.


Cylindruria

description: The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine.


Facet joint arthrosis

description: Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray.


Focal absence of the external ear

description: Absence of a localized portion of the ear that cannot be described by a more precise term (e.g., absent ear lobe).


cervical rib disease

description: A rib that is attached to a cervical vertebra or enlarged transverse processes.


familial congenital mirror movements

description: Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected.


congenital vertical talus

description: Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus.


Nasal hamartoma

description: A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the nose.


Fibular duplication

description: Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition.


Abnormal periosteum morphology

description: An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones.


name: Cortical radial artery lymphocyte hypercellularity

description: A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of cortical radial arteries.


Granulomatous coronary arteritis

description: Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.


Anterior mediastinal mass

description: A type of inferior mediastinal mass that is located in front of the pericardium.


Generalized hypertrichosis

description: Generalized excessive, abnormal hairiness.


Vocal cord dysfunction

description: Any functional anomaly of the vocal cord.


Costovertebral angle tenderness

description: Pain that is elicited by palpation of the region inside of the costovertebral angle, which is formed by the 12th rib and the spine.


Moderate global developmental delay

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


commissural facial cleft

description: Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)


bifid nose

description: Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated.


Fractured distal tarsal bone 3

description: A partial or complete breakage of the distal tarsal bone 3.


Pelvic arteriovenous malformation

description: An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the pelvis.


Subependymal cysts

description: Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life.


Abnormality of the scalp hair

description: An abnormality of the hair of head.


name: Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine

description: The inability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.


name: Impaired annexin V binding to platelet phosphatidylserine

description: Reduced binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry.


Portal inflammation

description: Infiltration of portal fields by inflammatory cells.


Cessation of head growth

description: Stagnation of head growth seen as flattening of the head circumference curve.


Facial hyperostosis

description: Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton.


Nail pits

description: Small (typically about 1 mm or less in size) depressions on the dorsal nail surface.


name: Chronic partially decreased circulating IgG1

description: A lasting limited decrease of immunoglobulin G1 (IgG1) in the blood.


2-4 toe syndactyly

description: Syndactyly with fusion of toes two to four.


description: Abnormal proportion of gamma-delta T cells relative to the total number of T cells.


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.


Kappa Bence Jones proteinuria

description: The presence of free monoclonal kappa immunoglobulin light chains in the urine.


name: Small epiphysis of the distal phalanx of the 3rd finger

description: Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms.


trigonocephaly

description: Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.


Progressive sclerosis of skull base

description: Progressively increasing bone density of the skull base without significant changes in bony contour.


name: Anti-beta 2 glycoprotein I antibody positivity

description: Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS).


Abnormal brain choline level by MRS

description: A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).


name: Elevated alkaline phosphatase of renal origin

description: An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.


Abnormality of the stapes

description: An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear.


Premature loss of primary teeth

description: Loss of the primary (also known as deciduous) teeth before the usual age.


Pulmonary blood flow redistribution

description: Pulmonary blood flow redistribution refers to any departure from the normal distribution of blood flow in the lungs that is caused by an increase in pulmonary vascular resistance elsewhere in the pulmonary vascular bed. Pulmonary blood flow redistribution is indicated by a decrease in the size and/or number of visible pulmonary vessels in one or more lung regions, with a corresponding increase in number and/or size of pulmonary vessels in other parts of the lung.


Decreased peak expiratory flow

description: A reduction in the maximum expiratory flow per minute, which can be used to measure how fast a subject can exhale as well as to judge the strength of the expiratory muscles and the condition of the large airways.


name: Focal impaired awareness sensory seizure with gustatory features

description: A focal sensory seizure with gustatory features in which awareness is partially or fully impaired at some point during the seizure.


name: Decreased number of peripheral myelinated nerve fibers

description: A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).


name: Abnormal circulating fatty-acid concentration

description: A deviation from the normal concentration of a fatty acid in the blood circulation.


Fractures, Closed

description: A traumatic break to the bone in which the continuity of the bone has not broken through the skin.


name: Abnormal cutaneous elastic fiber morphology

description: Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils.


Abnormality of body weight

description: An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.


Blue urine

description: An abnormal blue color of the urine.


Nocturnal hypoventilation

description: An abnormal reduction in alveolar ventilation occuring during sleep. This is characterized by a rise in arterial carbon dioxide.


Elbow extension contracture

description: An elbow contracture that limits the ability of the elbow joint to flex (flexion of the the elbow joint refers to bending the elbow joint to bring the hand closer to the shoulder), meaning that the elbow is fixed in an extended (straight) position.


ornithine aminotransferase deficiency

description: A very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract.


name: Focal aware autonomic seizure with lacrimation


Diastolic heart murmur

description: A heart murmur that occurs during diastole, i.e., in the time between S2 and the subsequent S1.


Abnormality of facial musculature

description: An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve).


Hydroxyprolinuria

description: An increased concentration of 4-hydroxy-L-proline in the urine.


Autotopagnosia

description: The loss of the ability to localize, recognize, or identify specific parts of one's body.


Short metacarpal

description: Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.


name: Anti-centromere protein A antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-A.


Abnormality of the metopic suture

description: The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a "metopic suture".


Abnormal circulating IgM level

description: An abnormal deviation from normal levels of IgM immunoglobulin in blood.


Proximal tapering of metacarpals

description: Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance.


EEG with focal sharp slow waves

description: EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.


Metatarsal osteolysis

description: Osteolysis involving metatarsal bones.


Abnormal social emotional interactions

description: Social emotional interactions refer to the exchange of feelings during social interactions by means of a wide range of communicative behaviors including facial expressions, body language, and verbal communication. This term refers to an atypically low production of emotion social communication by an individual.


pulmonary tuberculosis

description: A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss.


Microretrognathia

description: A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.


Periorificial hyperkeratosis

description: Scaling and overgrowth of horny tissue of the skin surrounding body orifices (including peri-auricular, peri-oral, peri-anal areas.


Recurrent gingivitis

description: Repeated occurrences of inflammatory condition of the gums (gingival tissue), most commonly caused by bacterial infection.


name: Abnormality of the phalanges of the 2nd finger

description: Abnormality of the phalanges of the 2nd (index) finger.


Meningeal calcification

description: Calcium deposition affecting the Meninges.


Basal ganglia necrosis

description: Death of cells in the basal ganglia. This finding can be confirmed by autopsy. It can be suspected with hyperintensities within the basal ganglia on FLAIR and T2-sequences on magnetic resonance imaging.


Decreased CSF erythritol concentration

description: Concentration of erythritol in the cerebrospinal fluid below the lower limit of normal.


Abnormal QRS complex

description: An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram.


name: Short proximal phalanx of the 4th finger

description: Hypoplastic/small proximal phalanx of the fourth finger.


Dysmorphic hematuria

description: The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria.


Chronic cutaneous wound

description: A cutaneous wound that has failed to proceed through the orderly and timely process to produce an atomic and functional integrity, or proceeded through the repair process without establishing a sustained anatomic and functional result.


Myocardial steatosis

description: Steatosis in the myocardium.


Abnormality of dental eruption

description: An abnormality of tooth eruption.


Abnormal sperm axoneme morphology

description: Abnormal structure of the sperm axonemal structure which consists of a ring of nine microtubular doublets and a central pair of microtubules, giving the classical 9+2 microtubular arrangement. The axoneme contains a central pair of microtubules (C1 and C2) that are connected by a bridge-like structure forming the central pair complex (CPC). Each of the nine outer doublets is composed of type A and B microtubules and connected by radial spokes to the CPC.


Increased urine harderoporphyrin level

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


name: Acroosteolysis of distal phalanges (feet)


Hot water-induced seizure

description: A seizure precipitated by pouring cupfuls of very hot water (40 to 50 degrees Celsius) in rapid succession over the head. Bathing in this manner is the most common trigger.


name: Aplasia/Hypoplasia of the distal phalanx of the 2nd toe


name: Decreased proportion of marginal zone B cells

description: A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.


Prominent palatine ridges

description: Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge.


Cerebellar dysplasia

description: Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts.


name: Symphalangism of middle phalanx of finger

description: Fusion of a middle phalanx of a finger with another bone.


Hypertrophy of the upper limb

description: Abnormal increase in size of the upper limbs (due to an increase of the size of cells).


Anti-dsDNA antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA.


name: Abnormal response to corticotropin releasing hormone stimulation test

description: An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals.


Invasive dermatophyte infection

description: Infection that extends deeply into the dermis by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails.


Ovoid vertebral bodies

description: When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval.


Impaired oral bolus formation

description: An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed.


name: Expanded metatarsals with widened medullary cavities


name: Focal sensory seizure with hot-cold sensations

description: A seizure characterized by sensations of feeling hot or cold as its first clinical manifestation.


Increased antral follicle count

description: A count of antral follicles that is higher than normal for age.


Inspiratory stridor

description: Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities.


Hypoplastic nasal bone

description: Length of the nasal bone below a predetermined cut-off as seen on antenatal ultrasound using standard imaging techniques.


Anterolateral radial head dislocation

description: A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction.


lumbar spinal stenosis

description: A spinal stenosis that involves the lumbar region of vertebral column.


name: Absent epiphysis of the distal phalanx of the 4th finger

description: Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger.


name: Disturbance during transitions between sleep and wake states

description: A group of parasomnias that occur during the transition from wakefulness to sleep or from one sleep stage to another. Rhythmic Movement Disorder, Sleep Starts, Sleep Talking, and Nocturnal Leg Cramps - these four disorders belong to Sleep-Wake Transition Disorders in the International Classification of Sleep Disorders.


Uterine mass

description: A swelling or enlargment localized to the uterus. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.


Neoplasm by histology

description: Neoplasm categorized according to type of histological abnormality.


name: Abnormal renal arteriole lumen morphology

description: Abnormal structural characteristics of the interior space (lumen) of renal arterioles.


name: Impaired lymphocyte transformation with phytohemagglutinin

description: Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.


T2 hyperintense cerebellar lesion

description: A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the cerebellum. This term refers to a localized hyperintensity affecting a particular region of the cerebellum.


Flexion contracture of the 4th toe

description: One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively.


name: Abnormal regional left ventricular contraction

description: A wall motion abnormality observed upon left ventricular contraction that affects a specific region of the left ventricle.


name: Abnormal proportion of CD4-positive helper T cells

description: An abnormal proportion of circulating CD4-positive helper T cells relative to total T cell count.


Abnormal CSF glutamate concentration

description: Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid.


Flaky paint dermatosis

description: A dermatosis characterized by generalized shiny, enamel-like, hyperpigmented scales in an irregular pattern. The scales may peel or desquamate, rather like old, sun-baked blistered paint, often with areas of underlying hypopigmentation. This has led to the terms peeling paint or flaky paint dermatosis (See the Figure in PMID:24285001).


name: immunodeficiency due to selective anti-polysaccharide antibody deficiency

description: Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR).


Abnormal ulnar metaphysis morphology

description: Any structural abnormality of the portion of the ulna between the epiphysis and the diaphysis.


Tongue tremor

description: An unintentional, oscillating to-and-fro muscle movement affecting the tongue.


Subsolid pulmonary nodule

description: Pulmonary subsolid nodules (SSNs) refer to pulmonary nodules with pure ground-glass nodules and part-solid ground-glass nodules. A ground-glass nodule (GGN) is the morphologic description of a pulmonary nodule category on thin-section chest computed tomography (CT). During the past decade, the natural history, management strategy and long-term prognosis in the case of GGNs have attracted attention.


Abnormal prostate morphology

description: An abnormality of the prostate.


Fascicular left ventricular tachycardia

description: A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG).


name: Impaired renal tubular reabsorption of uric acid

description: Decreased renal tubular reabsorption of uric acid.


Delusional misidentification

description: A group of complex, monothematic delusional phenomena in which subjects hold a belief that the identity of a familiar person, object, location, or self has been altered or replaced.


Focal cognitive seizure

description: A focal cognitive seizure involves an alteration in a cognitive function (which can be a deficit or a positive phenomenon such as forced thought), which occurs at seizure onset. To be classified as a focal cognitive seizure, the change in cognitive function should be specific and out of proportion to other relatively unimpaired aspects of cognition, because all cognition is impaired in a focal impaired awareness seizure.


name: Posterior fusion of lumbosacral vertebrae

description: Bony fusion of the posterior part of the L5 vertebral body with the sacrum.


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


Eosinophilic lymph node infiltration

description: Presence of an elevated number of eosinophils in a lymph node (usually as demonstrated by lymph node biopsy).


EEG with generalized spikes

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


Paroxysmal sneezing

description: Unprovoked explosive pathological sneezing.


Decreased circulating total IgA

description: Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L).


Tactile hypersensitivity

description: A decreased tolerance to physical touch.


Abnormal ear physiology

description: Any functional anomaly of the ear.


Calcium oxalate crystalluria

description: The presence of calcium oxalate crystals in the urine.


Abnormal vaginal bleeding

description: Abnormal vaginal bleeding occurs between menstrual periods, after sex, or after menopause. Menstrual periods that are heavier or last longer than usual or last more than seven days also are considered abnormal.


Left ventricular dilatation

description: Enlargement of the chamber of the left heart ventricle.


name: Degeneration of the lateral corticospinal tracts

description: Deterioration of the tissues of the lateral corticospinal tracts.


Ruffled acrosome

description: An irregular wavy appearance of sperm acrosomes.


Renal interstitial foam cells

description: Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles.


Long hallux

description: Increased length of the big toe.