lipomyelomeningocele

description: Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome.


Abnormal calvaria morphology

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

description: Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain.


Unguarded tricuspid valve

description: A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue.


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.


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.


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.


Abnormal stomach morphology

description: An abnormality of the stomach.


Hyperfibrinogenemia

description: Increased concentration of fibrinogen in the blood.


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.


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.


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.


name: Increased level of gamma-aminobutyric acid in urine

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


Abnormal EKG

description: Abnormal rhythm of the heart.


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).


Esophageal obstruction

description: Blockage of the normal flow of the contents in the esophagus.


Decreased thalamic volume

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


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.


Respiratory arrest

description: Cessation of breathing function.


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.


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).


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.


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.


cervicitis

description: An acute or chronic inflammatory process that affects the cervix. Causes include sexually transmitted diseases and bacterial infections. Clinical manifestations include abnormal vaginal bleeding and vaginal discharge.


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


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: 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: 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.


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


Proximal muscle weakness

description: A lack of strength of the proximal muscles.


Antinuclear antibody positivity

description: The presence of autoantibodies in the serum that react against nuclei or nuclear components.


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.


Myalgia

description: Pain in muscle.


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.


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.


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.


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.


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.


Recurrent fractures

description: The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).


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.


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.


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.


Fetor hepaticus

description: Fetor hepaticus is the characteristic breath of patients with severe parenchymal liver disease, which has been said to resemble the odor of a mixture of rotten eggs and garlic.


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.


Decreased serum thromboxane B2

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


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.


Limb pain

description: Chronic pain in the limbs with no clear focal etiology.


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.


Cutaneous cyst

description: A hollow mass located in the skin that is surrounded by an epithelium-lined wall and is well demarcated from the adjacent tissue. Cysts are often said to be sac-like and may contain serous liquid or semisolid material.


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.


Cervical lymphadenopathy

description: Enlarged lymph nodes in the neck.


Quadriceps muscle atrophy

description: Muscular atrophy involving the quadriceps muscle.


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).


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.


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.


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.


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: 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.


name: Absence of renal corticomedullary differentiation

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


Vasovagal syncope

description: A vasovagal episode or vasovagal syncope is the most common form of reflex syncope. Reflex syncope is a general term used to describe types of syncope resulting from a failure in autoregulation of blood pressure, and ultimately, in cerebral perfusion pressure resulting in transient loss of consciousness. The mechanisms responsible for this are complex and involve both depression of cardiac output as well as a decrease in vascular tone.


Seminal vesicle agenesis

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


name: Focal aware cognitive seizure with auditory agnosia

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


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.


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.


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.


Acute bronchitis

description: Inflammation of the large airways of the lung with rapid onset and short course usually associated with cough, mucus production, shortness of breath, wheezing, and chest tightness.


Abnormal CSF histidine concentration

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


Antiparietal cell antibody positivity

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


Hematemesis

description: The vomiting of blood.


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.


Palmar neurofibroma

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


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.


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.


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.


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.


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.


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


name: Increased erythrocyte coproporphyrin concentration

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


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.


Abnormal enchondral ossification

description: An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage.


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.


Respiratory alkalosis

description: Alkalosis due to excess loss of carbon dioxide from the body.


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.


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.


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.


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.


pyoderma

description: Any skin disease that is pyegenic.


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.


Compression fracture

description: Compression-induced traumatic break, and resulting collapse, of a short bone.


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.


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.


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.


Exercise-induced myalgia

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


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.


Ventricular hypertrophy

description: Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.


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).


Fractured hand bones

description: A traumatic break in one or more of the bones in the hand.


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.


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.


Fractured lower leg

description: Bone fracture anywhere in the tibia, fibula, or ankle.


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.


anisomastia

description: The presence of asymmetrical breasts.


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.


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.


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.


parotitis

description: Inflammation of the parotid glands.


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).


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.


name: Absent circulating immunoglobulin kappa chain

description: Nondetectable kappa chain in the blood circulation.


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.


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.


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).


abscess

description: An inflammatory process characterized by the accumulation of pus within a newly formed tissue cavity which is the result of a bacterial, fungal, or parasitic infection or the presence of a foreign body.


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.


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.


Carotid cavernous fistula

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


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: 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.


Agenesis of the anterior commissure

description: Absence of the anterior commissure.


nipples inverted

description: The presence of nipples that instead of pointing outward are retracted inwards.


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.


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: 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.


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.


Upper limb muscle weakness

description: Weakness of the muscles of the arms.


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).


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.


cervical rib disease

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


Nasal hamartoma

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


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.


Generalized hypertrichosis

description: Generalized excessive, abnormal hairiness.


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.


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.


gingival recession

description: A loss of gum tissue resulting in an exposure of the roots of the teeth.


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.


Bone pain

description: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.


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.


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).


Muscle fibrillation

description: Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG.


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.


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.


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.


Hypersexuality

description: Pathological persistent sexual disinhibiting behavior, directed towards oneself or others.


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.


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.


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.


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.


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.


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: 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.


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.


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: 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.


lumbar spinal stenosis

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


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.


Abnormal skull morphology

description: An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone.


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.


paronychia

description: An acute or chronic infection of the soft tissues around the nail. Symptoms include pain, tenderness, erythema, and swelling around the nail. Acute infection results from minor trauma to the fingertip and Staphylococcus aureus is usually the causative agent. Chronic infection is usually caused by Candida albicans.


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).


Tongue tremor

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


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.


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).


cutaneous vasculitis

description: Inflammation of the blood vessel wall characterized by palpable purpura.


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.


Ketosis

description: Presence of elevated levels of ketone bodies in the body.


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.


Retractile testis

description: A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex.


name: Partial absence of specific antibody response to unconjugated pneumococcus vaccine

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


name: Fatigable weakness of distal limb muscles

description: A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.


Allantoic cyst

description: A swelling formed at the base of umbilicus associated with a patent urachus which results from an allantoic remnant. The urachus is a fibrous remnant of the allantois which communicates from the apex of the urinary bladder to the umbilicus. Failed obliteration of the urachus can lead to various abnormalities: urachal cyst, urachal diverticulum, sinus or patent urachus - the most common type. Allantoic cysts in infants with patent urachus can be formed due to the drainage of urine into the umbilical cord, or in uncommon situations, after leakage of hypo-osmotic urine into the Wharton's jelly.


Antalgic gait

description: To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position.


Tremor by anatomical site

description: Tremor classified by the affected body part.


Thin toenail

description: Toenail that appears thin when viewed on end.


Middle cerebral artery calcification

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


Hypophosphaturia

description: An abnormally decreased phosphate concentration in the urine.


C-cell hyperplasia

description: Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism).


congenital syphilis

description: A life-threatening bacterial infection of the newborn caused by Treponema pallidum. It is transmitted to the infant from a mother with syphilis through the placenta during pregnancy. Signs and symptoms include irritability, fever, failure to thrive, saddle nose, cutaneous rash, and pneumonia.


Esophageal exudate

description: An exudate is a mass of fluid and cells that has seeped out of blood vessels or an organ, usually related to inflammation. In the esophagus, exudates usually present as whitish plagues on the surface of the esophageal mucosa.


Unilateral perisylvian polymicrogyria

description: A type of perisylvian polymicrogyria that largely affects one side of the brain.


name: Macular hypopigmented whorls, streaks, and patches


Inappropriate behavior

description: An explicit or perceived action, demonstration, conduct, or language (verbal and written) that is contrary to generally accepted norms, rules, procedures, or unacceptable within the context in which it is carried out. Inappropriate behaviors could take place in a sexual or social context and could be aggressive, violent, impulsive, intimidating, or threatening in nature.


Descending thoracic aorta aneurysm

description: An abnormal localized widening (dilatation) of the descending thoracic aorta.


Cerebral dysmyelination

description: Defective structure and function of myelin sheaths of the white matter of the brain.


name: Cortical radial artery intima/media necrosis

description: Cell death (necrosis) in the inner or middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.


Focal cognitive seizure with neglect

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


name: Arteriosclerosis of small cerebral arteries

description: Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain.


Abnormal transferrin saturation

description: Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity.


Delayed ability to walk

description: A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.


name: EEG with generalized slow activity grade 3

description: Generalized slowing of EEG activity at frequencies between 0.5-3 Hz.


Abnormal T3/T4 ratio

description: A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal.


Anterior cerebral artery stenosis

description: Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery.


Congenital megalourethra

description: Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa.


Developmental regression

description: Loss of developmental skills, as manifested by loss of developmental milestones.


Abnormality of T cell physiology

description: A functional anomaly of T cells.


Decreased HDL2b concentration

description: A reduction below the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.


secondary adrenal insufficiency

description: A hormonal disorder that occurs when lack of corticotropin-releasing hormone (CRH) secretion from the hypothalamus or adrenocorticotropic hormone (ACTH) secretion from the pituitary is responsible for hypofunction of the adrenal cortex.


fused mandibular incisors

description: Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia and an increased risk of pulp exposure.


Focal motor status epilepticus

description: Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.


central sleep apnea syndrome

description: A broad classification of disorders which includes 6 subtypes (primary central sleep apnea, central sleep apnea due to Cheyne-Stokes breathing pattern, central sleep apnea due to medical condition not Cheyne-Stokes, central sleep apnea due to high-altitude periodic breathing, central sleep apnea due to drug or substance and primary sleep apnea of infancy) that are each characterized by interruptions in breathing while asleep. It is caused by improper signaling from the brainstem to respiratory muscles and is triggered by either hypoventilation or hyperventilation. In adults, this disorder may arise following a stroke, congestive heart failure, trauma, infection or the use of narcotic medications. It is more common in older males and may present as a co-morbid condition to obesity. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health.


name: Increased circulating carnosine concentration

description: Concentration of carnosine in the blood circulation above normal limits.


Splenic cyst

description: A closed sac located in the spleen.


name: Decreased circulating plasmalogen concentration

description: Reduced plasmalogen concentration in the blood circulation.


Pseudo-chilblains on fingers

description: Inflammatory chilblain-like nodules on the hands and/or fingers.


Right unicoronal synostosis

description: Unicoronal synostosis affecting only the right coronal suture.


Craniofacial teratoma

description: A teratoma located in the craniofacial region.


radial heads, posterior dislocation of

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


Pseudoaneurysm

description: A contained rupture of an artery with a disruption in all 3 layers of the arterial wall.


Camptodactyly of toe

description: Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.


Abnormal fallopian tube morphology

description: An abnormality of the fallopian tube.


Exercise-induced myoglobinuria

description: Presence of myoglobin in the urine following exercise.


Esophageal dilation

description: Widening (relatively uniform increase in diameter) of a segment of the esophagus.


Ageusia

description: A rare condition that is characterized by a complete loss of taste function of the tongue.


Sub-lamina densa cleavage

description: A type of blistering in which the cleavage plane of blisters is located below the lamina densa.


Abnormal lacrimal artery morphology

description: An abnormality of a lacrimal artery.


Acrokeratosis

description: Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet.


Aplasia/Hypoplasia of the liver

description: Absence or underdevelopment of the liver.


Facial hypotonia

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


name: Abnormal circulating serine family amino acid concentration

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


Abnormality of pancreas physiology

description: An anomaly of the function of the pancreas.


name: Recurrent streptococcus pneumoniae infections

description: Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae.


Bounding pulse

description: Increased amplitude (strength) of the pulse.


Talipes

description: A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.


Chronic noninfectious lymphadenopathy

description: A chronic form of lymphadenopathy that is not related to infection.


Congenital goiter

description: An enlargement of the thyroid gland with congenital onset.


Focal hemiclonic seizure

description: A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset.


Perifollicular erythema

description: Redness surrounding the hair follicles.


name: Increased urinary 8-oxo-7,8-dihydroguanosine level

description: An elevated amount of 8-oxo-7,8-dihydroguanosine in the urine.


Spinal canal stenosis

description: An abnormal narrowing of the spinal canal.


Duplication of phalanx of hand

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


Serinuria

description: A increased concentration of serine in the urine.


name: Decreased glucose-6-phosphate dehydrogenase level in dried blood spot

description: A decrease in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.


Absent soft palate

description: A developmental defect characterized by lack of a soft palate.


Abnormal femur morphology

description: Any anomaly of the structure of the femur.


Abnormal shape of the frontal region

description: An abnormal shape of the frontal part of the head.


Abnormal CSF/serum albumin ratio

description: A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF.


Malignant rhabdoid tumor of liver

description: A malginant rhabdoid tumor (MRT) originating in the liver. MRT are best characterized by the presence of round or polygonal cells with abundant eosinophilic cytoplasm, typical eosinophilic perinuclear inclusions, vesicular nuclei and prominent nucleoli. Immunohistochemical expression of vimentin and epithelial markers and lack of staining for S-100, myoglobin and desmin are commonly found, but are non-specific.


Difficulty walking

description: Reduced ability to walk (ambulate).


name: Complete or near-complete absence of specific antibody response to hepatitis B vaccine

description: The inability to synthesize postvaccination antibodies against a hepatisis B antigen, as measured by antibody titer determination following vaccination.


Speech articulation difficulties

description: Impairment in the physical production of speech sounds.


Abnormal femoral head morphology

description: An abnormality of the femoral head.


Insect allergy

description: Hypersensitivity in form of an adverse immune reaction against insects.


Abnormality of the pubic hair

description: Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty.


Thoracoabdominal ectopia cordis

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


extrapulmonary tuberculosis

description: A tuberculosis that occurs at body sites other than the lung.


Elevated CSF thymine concentration

description: The concentration of thymine in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Fair hair

description: A lesser degree of hair pigmentation than would otherwise be expected.


craniofacial microsomia

description: A congenital birth defect characterized by incomplete development or absence of face structures, usually affecting one side of the face. The defects include partially formed or absent ear, nose, lip, mandible, and/or soft palate.


name: Renal interstitial mononuclear cell infiltration

description: Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei).


Periventricular heterotopia

description: A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass.


Abnormality of the diencephalon

description: An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain.


Recurrent sinusitis

description: A recurrent form of sinusitis.


Facial hemangioma

description: Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face.


Abnormality of the amniotic fluid

description: Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus.


Elevated circulating osteopontin level

description: Abnormally increased level of osteopontin in the blood circulation


Aortic isthmus hypoplasia

description: A type of aortic arch hypoplasia whereby the isthmus (arch between the left subclavian and insertion of the patent ductus arteriosus/ligamentum arteriosum) has a diameter of less than 40% of the diameter of the ascending aorta.


Thickened intrahepatic portal venules

description: Increased width of the vascular wall of portal venules within the liver.


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

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


Pancreatic arteriovenous malformation

description: Pancreatic arteriovenous malformation is defined as an abnormal vascular net, developed from one or more feeding arteries and enlarged early draining veins, creating an arteriovenous shunting.


name: Elevated circulating thyroid-stimulating hormone concentration

description: Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation.


Abnormal paranasal sinus morphology

description: Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses.


Abnormal prothrombin time

description: Any deviation from the normal amount of time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.


fungal meningitis

description: Meningitis caused by fungal agents which may occur as opportunistic infections or arise in immunocompetent hosts.


Finger agnosia

description: The examiner identified the inability to name, move, or touch specific fingers.


Indurated nodule

description: A skin nodule that is unusually hard (indurated).


Superior cerebellar dysplasia

description: Abnormal morphological development of the superior part of the cerebellum.


Pelvic girdle muscle weakness

description: Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.


Asymmetry of the mouth

description: The presence of an asymmetric mouth.


Clonal T cell receptor rearrangement

description: Presence of a predominant T cell clone. In PCR-based assays, this finding is inferred on the basis of one or two prominent bands within a valid size range. In NGS-based assays, this finding is inferred on the basis of a high number of reads that map to a single T cell receptor clone.


Mild fetal ventriculomegaly

description: A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637).


Sprengel deformity

description: A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).


Abnormal right ventricular function

description: Anomalous physiology (function) of the right ventricle.


Cerebral artery stenosis

description: Narrowing or constriction of the inner surface (lumen) of a cerebral artery.


Impaired pain sensation

description: Reduced ability to perceive painful stimuli.


Abnormality of the diaphragm

description: Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity.


Brachytelomesophalangy

description: Disproportionately short middle and distal phalanges compared to the hand/foot.


name: Premature closure of the ductus arteriosus

description: A prenatal partial or complete closure of the ductus arteriosus (i.e., prior to delivery).


Radial deviation of the hand

description: An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb).


name: Anti-thyroid peroxidase antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase.


Exercise-induced lactic acidemia

description: A form of lactic acidemia that occurs following exercise or exertion.


Liver hamartoma

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


name: Increased level of galactonate in red blood cells

description: An increase in the level of galactonate in the red blood cells.