congenital partial pulmonary venous return anomaly

Partial pulmonary venous return (PAPVR) is a form of congenital pulmonary venous return where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea.


Asymmetric bilateral cleft lip

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Bilateral cleft lip in which the cleft lip on one side is complete (i.e. starts from the bottom of the upper lip and reaches the nasal cavity), and the one on the other side is incomplete (i.e. starts from the bottom of the upper lip but does not reach the nasal cavity) or microform (i.e. a notch, groove, or scar without noticeable rupture of the lip).


Abnormal CSF pyruvate family amino acid concentration

Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid.


Philtrum with midline raphe

Narrow ridge in the midline of the philtral groove.


Anti-carbonic anhydrase VI antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase VI.


Increased circulating gonadotropin level

Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.


Enlarged epiphysis of the middle phalanx of the 3rd finger

Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms.


Short distal phalanx of the 4th toe

Developmental hypoplasia of the distal phalanx of fourth toe.


Fragmentation of the epiphyses of the 3rd finger

Fragmented appearance of the epiphyses of the 3rd finger.


Abnormal cheek morphology

An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. "Buccal" means relating to the cheek. The cheek is part of the midface


Episodic generalized hypotonia

The occurrence of repeated episodes of generalized muscular hypotonia.


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Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner.


Increased circulating aspartic acid concentration

An increased concentration of aspartic acid in the blood circulation.


Abnormality of the middle phalanx of the 3rd toe


isolated partial vaginal agenesis

Isolated partial vaginal agenesis is a rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal.


Aortic elastic fiber fragmentation

Loss and/or fragmentation of elastic fibers of the media of the aorta creating increasingly extended translamellar spaces, with absence of elastic fibers, and increased gaps in elastic fiber lamellae as identified on a stain for elastic fibers.


Coarctation of abdominal aorta

Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta.


Hypoglycorrhachia

Abnormally low glucose concentration in the cerebrospinal fluid.


Abnormal fetal long-bone echogenicity

Any deviation from the normal appearing echogenicity of the fetal bone. Echogenicity refers to the ability of tissue to reflect ultrasound waves back toward the transducer and produce an echo. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. The higher the echogenicity of tissues, the brighter they appear on ultrasound imaging.


Increased circulating IgG4 level

An abnormally increased concentration of the IgG4 subtype in the blood circulation.


Cone-shaped epiphysis of the 1st metacarpal

A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance.


peritoneal mesothelioma

A benign or malignant mesothelial neoplasm that arises from the peritoneum.


Hip subluxation

A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket.


Arterial calcification

Pathological deposition of calcium salts in one or more arteries.


Keratinocyte vacuolization

Increased number of vacuoles (membrane-bound organelles that areempty of cytoplasm, lined with a membrane, and filled with fluid) in keratinocytes.


Fragmentation of the epiphyses of the toes


Agenesis of permanent maxillary central incisor

Agenesis of upper secondary incisor.


Diaminoaciduria

An increased urine level of any amino acid carrying two amino groups (Asparagine, glutamine and lysine, cystine, ornithine).


Tetralogy of Fallot with atrioventricular canal defect


Premature loss of teeth

Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.


Long segment coarctation of the aorta

Coarctation of the aorta is a narrowing or constriction of a long segment of the arch of the aorta.


EEG with localized low amplitude activity

An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


Arcuate vein intima/medial amyloidosis

Amorphous extracellular substance in the inner or middle layer of the arcuate veins of the kidney. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy.


Decreased helper T cell proportion

Reduced proportion of helper T cells relative to the total number of T cells.


Neurofibroma by anatomical location

Neurofibroma categorized according to the anatomical site of origin.


Abnormal circulating asparagine concentration

Any deviation from the normal concentration of asparagine in the blood circulation.


Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal

Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal.


Moderate proteinuria

Moderately increased levels of protein in the urine (500-1000 mg per day in adults).


Recurrent systemic pyogenic infections

Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections.


Sawtooth acanthosis

A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis.


Upper-limb joint contracture

A limitation in the passive range of motion of a joint of the upper limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.


Enlarged epiphysis of the proximal phalanx of the 2nd finger


Demyelinating motor neuropathy

Demyelination of peripheral motor nerves.


Dense calvaria

An abnormal increase of density of the bones making up the calvaria.


Abnormality of male external genitalia

An abnormality of male external genitalia.


Achilles tendon calcification

Ectopic deposition of calcium salts in the Achilles tendon.


Impaired ability to shift attention

A behavioral abnormality whereby a person is unable to move freely from one situation, activity or aspect of aa problem to another as circumstances demand. Key aspects of shifting include the ability to make transitions, problem solve flexibly, switch or alternate attention, and change focus from one mind-set or topic to another. Mild deficits in the ability to shift compromise the efficiency of problem solving, whereas more severe difficulties are reflected in perseverative behaviors. Sometimes this is described as being rigid or inflexible.


Hypoplastic anterior limbs of the internal capsule

Underdevelopment of the frontal part (anterior crus or anterior limb) of the internal capsule.


Fragmentation of the epiphyses of the middle phalanges of the hand

Fragmented appearance of the epiphyses of the middle phalanges of the hand.


Symphalangism affecting the phalanges of the 4th toe


Abnormal vasa vasorum morphology

A structural anomaly of vasa vasorum, which are defined as small blood vessels that supply or drain the walls of larger arteries and veins, delivering nutrients and oxygen as well as removing systemic waste products.


Increased urinary sulfate

Elevated concentration of SO4(2-), i.e., sulfate, in the urine.


Renal interstitial plasma cell infiltration

Increased numbers of plasma cells in the interstitial tissues of the kidney.


thumb deformity

An abnormal structure of the first digit of the hand.


Symphalangism affecting the phalanges of the toes


cardiac rhabdomyoma

A well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on tumor location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis.


Elevated CSF amyloid concentration

Increased concentration of amyloid in the cerebrospinal fluid (CSF).


Distal femoral metaphyseal abnormality

An anomaly of the metaphysis of the distal femur (close to the knee).


Transient decreased circulating IgE

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


Increased urine deoxypyridinoline level

An increased level of deoxypyridinoline in the urine. Deoxypyridinoline is a crosslink product of collagen molecules found in bone and excreted in urine during bone degradation, has been described as a marker of bone turnover.


Cerebral calcification

The presence of calcium deposition within brain structures.


Hypoplastic anterior commissure

Underdevelopment of the anterior commissure.


Pulmonary situs ambiguus with bilateral morphologic left lungs

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


mixed neuronal-glial tumor

A group of central nervous system neoplasms with a variable amount of neuronal and, less consistently, glial differentiation. They occur at a low frequency and usually carry a favorable prognosis. Representative examples include dysplastic cerebellar gangliocytoma, desmoplastic infantile ganglioglioma, desmoplastic infantile astrocytoma, and dysembryoplastic neuroepithelial tumor. (Adapted from WHO)


Pruritis on breast

Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the breast.


Increased proportion of naive CD4 T cells


Duplication of the middle phalanx of hand

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


Abnormal circulating serine concentration

Any deviation from the normal concentration of serine in the blood circulation.


hydroxyprolinemia

An increased concentration of hydroxyproline in the blood.


Arcuate intimal/medial granulomatous venulitis

A type of arcuate intimal/medial venulitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins.


Abnormal cellular physiology

An abnormality in a cellular process.


Female external genitalia in individual with 46,XY karyotype

The presence of female external genitalia in a person with a male karyotype.


Startle-induced seizure

Startle-induced seizures are triggered by multiple and non-specific stimuli (auditory, somatosensory, and rarely visual) and are characterized by their sudden unexpected nature. Sudden noise rather than pure sound is the most effective acoustic stimulus.


Renal duplication

A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters.


Intercostal muscle weakness

Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall.


Morphological abnormality of the pyramidal tract

Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts.


Decreased scrotal rugation

Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum.


Broad jaw

Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective).


Abnormal eosinophil morphology

An abnormal count or structure of eosinophils.


Osteolytic defect of the proximal phalanx of the thumb

Dissolution or degeneration of bone tissue of the proximal phalanx of the thumb.


cerebral cortical dysplasia

Abnormalities in the development of the cerebral cortex. These include malformations arising from abnormal neuronal and glial cell proliferation or apoptosis (Group I); abnormal neuronal migration (Group ii); and abnormal establishment of cortical organization (Group iii). Many inborn metabolic brain disorders affecting cns formation are often associated with cortical malformations. They are common causes of epilepsy and developmental delay.


Septic embolism

Embolization of intravascular thrombus containing microorganisms into the distant tissues via arterial system.


Exercise induced anaphylaxis

Anaphylaxis after physical activity.


Obliterative abnormality of the renal glomerulus


Anisopoikilocytosis

A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes.


Hypotaurinemia

A decreased amount of taurine in the blood.


Calcium carbonate crystalluria

The presence of calcium carbonate crystals in the urine.


High anterior hairline

Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella.


Chronic hepatitis due to cryptosporidium infection

Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue.


Anti-GT1a antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside.


Wrist flexion contracture

A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.


Uterine arteriovenous malformation

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


EEG with intermittent slow activity

Non-continuous diffuse slowing of electroencephalographic patterns.


factor XIII, b subunit, deficiency of

Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.


Elevated hemoglobin A1c

An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements.


Scaphoid abdomen

The anterior abdominal wall is sunken and presents a concave rather than a convex contour.


Abnormal branching pattern of left aortic arch

A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries, whereby the aortic arch descends on the left as normal (as opposed to right aortic arch).


Prolonged miniature endplate currents

An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.


Abnormality of angular artery

An abnormality of the angular artery, the terminal branch of the facial artery.


Low pulse pressure

Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).


Abnormality of pineal physiology

A functional abnormality of the pineal gland.


Facial midline hemangioma

Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face.


Fetal cerebellar vermis hemorrhage

A type of fetal intracranial hemorrhage that occurs in the vermis of the cerebellum.


White papule

A papule with white color.


Perihilar glomerular hyalinosis

Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum.


lissencephaly due to LIS1 mutation

Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.


Sclerosis of the proximal phalanx of the 5th toe


Punctate palmar hyperkeratosis

Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands.


Fordyce angiokeratoma

A type of angiokeratoma that most commonly occurs on the scrotum of patients who are 40 years old or older. The typical single lesion is a dark red to blue dome-shaped papule 2-4 mm in diameter with a very discrete keratotic surface. Typically, they are multiple and arranged in a line parallel to the raphe mediana of the scrotum. They also occur on the vulva and less commnly on the penis.


Ectopic thyroid

Mislocalised thyroid gland.


Enlarged epiphysis of the distal phalanx of the 4th toe


Decreased transferrin saturation

A below normal level of saturation of serum transferrin with iron.


alpha-heavy chain disease

Alpha-heavy chain disease (alpha-HCD) is a type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption.


Abnormal cellular composition of bronchoalveolar fluid

Deviation from the commonly in healthy people observe cellular distribution. Normal ranghes are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5%.


Duplication of middle phalanx of toe

Partial or complete duplication of a middle phalanx of toe.


Clusters of axonal regeneration

Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration.


Joubert syndrome

Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.


Anti-laminin 332 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-332.


Pulmonary aterial intimal fibrosis

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


Elevated urinary formiminoglutamic acid level

Level of formiminoglutamic acid in urine above the upper limit of normal.


Weakness of facial musculature

Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).


Membranous ventricular septal aneurysm

Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle).


tetra-amelia

Amelia of all four limbs.


diffuse palmoplantar keratoderma

Palmoplantar keratoderma that diffusely involves most of the palm and sole and is caused by a genetic abnormality.


Recurrent infantile hypoglycemia

Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period.


Recurrent Staphylococcus aureus infections

Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection.


Prolonged euglobulin clot lysis time

Abnormally increased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored.


Cortical radial artery medial/intimal granulomatous arteriitis

A type of cortical radial artery medial/intimal arteriitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.


generalized dystonia

A type of dystonia that affects all or most of the body.


Bifid proximal phalanx of the thumb

This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Iron accumulation in brain

An abnormal build up of iron (Fe) in brain tissue.


Multinucleated visceral epithelial cells

Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy.


Contracture of the metatarsophalangeal joint of the 2nd toe

The joint between the second metatarsal and the proximal phalanx of the 2nd toe cannot be straightened actively or passively.


Loculated ascites

A type of ascites (peritoneal fluid collection) that is divided into loculi (compartments) by septa (fibrous walls). Ascites fluid can become loculated when confined by adhesions, malignancy or infection.


Periventricular white matter hyperintensities

Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.


Neonatal seizure with bilateral symmetric automatism

Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at both sides of the body symmetrically.


Focal cortical dysplasia type IIb

A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells.


Pelvic bone exostoses

A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage.


Absent antitragus

Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.


Focal impaired awareness perseverative automatism seizure

A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by inappropriate continuation of pre-seizure movement or behavior at onset.


Abnormal speech discrimination

A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss.


Focal cognitive seizure with conduction dysphasia/aphasia

A focal cognitive seizure characterized by conduction dysphasia / aphasia as the initial semiological manifestation.


Large placenta

Increased size of the placenta.


Bifid tragus

Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak.


Intraluminal meconium calcification

Deposition of calcium in meconium present in the internal cavity of the fetal bowel. This manifestation may be the result of any distal intestinal obstruction.


Lower limb peromelia

Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation.


Decreased basophil count

An abnormally reduced count of basophils per volume in the blood circulation.


Increased subcutaneous truncal adipose tissue

The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body.


Elevated CSF angiotensin-converting enzyme concentration


Pectoralis major hypoplasia

Underdevelopment of the pectoralis major.


Flexion contracture of digit

A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.


Short distal phalanx of the 5th toe

Developmental hypoplasia of the distal phalanx of little toe.


Abnormal atrioventricular conduction

An impairment of the electrical continuity between the atria and ventricles.


Type 1 and type 2 muscle fiber minicore regions

Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers.


Abnormal circulating thyroglobulin level

A deviation from the normal concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.


Anti-isoleucyl tRNA-synthetase antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against isoleucyl tRNA-synthetase.


Pulmonary vein varix

Pulmonary vein varix (PVV), refers to a localised dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent.


Hemihypertrophy

Overgrowth of only one side of the body.


Thalamic calcification

Calcium deposition in the thalamus.


Decreased pre-bronchodilator forced vital capacity

An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed before the administration of a bronchodilating medication.


Absent middle phalanx of the 3rd toe

Developmental aplasia of the middle phalanx of third toe.


Renal pelvic carcinoma

The presence of a carcinoma in the renal pelvis.


Broad fingertip

Increased width of the distal segment of a finger.


Decreased CSF lysine concentration

Abnormally decreased levels of lysine in cerebrospinal fluid.


Abnormal CSF valine concentration

Any deviation from the normal concentration of valine in the cerebrospinal fluid.


Increased phytanic acid:pristanic acid ratio

An elevation above the normal ratio of blood phytanic acid concentration to pristanic acid concentration.


Valvular pulmonary stenosis

A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately at the level of the pulmonary valve.


Generalized neonatal hypotonia

Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature.


Increased anti-meat allergen IgE antibody level

Increased level of IgE antibody against meat, such as mammalian meat, including beef or pork, or poultry, like duck or chicken.


Darwin tubercle of helix

Small expansion of the helical fold at the junction of the superior and descending portions of the helix.


Abnormal 4th finger phalanx morphology

Abnormality of the phalanges of the 4th (ring) finger.


Absent tibia

Absence of the tibia.


Volar fingernail

The presence of an extra nail on the palmar (volar, ventral) surface of the finger.


Bone marrow myeloid vacuolization

Formation of vacuoles (a space within a cell that is empty of cytoplasm, lined with a membrane, and filled with fluid) in the cytoplasm of myeloid precursors in the bone marrow.


skeletal muscle disorder

A disease involving the skeletal muscle tissue.


Underdeveloped crus of the helix

Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average.


leiomyosarcoma of the corpus uteri

An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells.


Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body asymmetrically.


Penile hypospadias

Location of the urethral opening on the inferior aspect of the penis.


Abnormal 1st metacarpal morphology

A structural anomaly of the first metacarpal.


Hemosiderinuria

The presence of hemosiderin in the urine.


Recurrent Burkholderia cepacia infections

Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent.


Enlargement of the proximal femoral epiphysis

An abnormal enlargement of the proximal epiphysis of the femur.


Hypoplasia of the pons

Underdevelopment of the pons.


Conspicuously happy disposition

An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger.


Abnormality of the internal capsule

An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus.


Impaired arachidonic acid-induced platelet aggregation

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


Nontuberculous mycobacterial pulmonary infection

An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease.


Abnormal eye contact

Any abnormality of eye contact behavior. We define eye contact as a form of nonverbal communication between two individuals who are facing each other in which an individual directs the eyes towards the eyes or face of the other individual. Eye contact occurs frequently and voluntarily during face-to-face verbal communication. The duration and frequency of eye contact that is interpreted to be appropriate may follow social and situational norms.


Molluscoid pseudotumors

Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees.


Exercise-induced muscle cramps

Sudden and involuntary contractions of one or more muscles brought on by physical exertion.


Partial duplication of the phalanges of the hallux


Ivory epiphysis of the proximal phalanx of the 3rd finger

Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Curved proximal toe phalanx

A deviation from the normal straight shape of a proximal phalanx of one or more toes.


Abnormal circulating testosterone concentration

An anomalous concentration of testosterone in the blood.


Intrarenal reflux

Severe vesicoureteral reflux reaching the kidney parenchyma.


Hypoplasia of the bladder

Underdevelopment of the urinary bladder.


Perifissural pulmonary nodule

Solid, homogenous nodules characterised by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes.


Increased CSF protein concentration

Increased concentration of protein in the cerebrospinal fluid.


Recurrent plantar mycosis

A history of repeated fungal infections located on the sole of the foot, usually manifested by scaling, maceration, and itching.


Hyperphalangy of the 3rd finger

An accessory phalanx of the third (middle) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint.


Interface hepatitis

Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma.


Adrenal leiomyoma

Adrenal leiomyoma is a rare, benign solid tumor that develops from the smooth muscle of the adrenal vein and its tributaries


Peromelia

The distal parts of the limbs are missing leading to a stump formation.


Bilateral fetal pyelectasis

A bilateral form of fetal pyelectasis.


Absent epiphyses of the 4th finger

Absence of one or more epiphyses of the 4th finger.


osteopoikilosis

A rare autosomal dominant inherited disorder characterized by the presence of small areas of increased density throughout the bones.


paraphimosis

A condition in which the foreskin of an uncircumcised male is retracted and cannot be pulled back over the glans penis. It results in painful swelling of the glans penis and, if is not corrected, may lead to gangrene.


Decreased head circumference

An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean.


Aplasia/Hypoplasia of the proximal phalanx of the 5th finger

Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger.


Impulsivity

Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress.


Bullet-shaped proximal phalanx of the hallux

An abnormal morphology of the proximal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Osteolytic defects of the distal phalanx of the 4th toe


Bullet-shaped distal phalanx of the 4th toe

An abnormal morphology of the distal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


ceruminoma

A benign epithelial neoplasm derived from ceruminous glands in the external auditory canal. It presents as a grey mass covered by skin. It is characterized by a proliferation of glands composed of cells with abundant eosinophilic and granular cytoplasm.


Radial dysplasia

Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia.


Accessory spleen

An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance.


Vascular hamartoma

A benign focal growth composed of vascular tissue.


Periportal fibrosis

The presence of fibrosis affecting the interlobular stroma of liver.


Valinemia

Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine.Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. Valinemia is caused by a deficiency of the enzymevaline transaminase, which is needed for the breakdown (metabolism) of valine in the body. It is inherited in an autosomal recessive manner, although the gene responsible for the condition is not yet known. Treatment includes adiet low in valine (introduced during early infancy) which usually improves symptoms and brings valine levels to normal.


Renal interstitial amyloid deposits

Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation.


Increased circulating guanosine concentration

Increased concentration of guanosine in the blood circulation.


Intraoral laceration

A wound of the mucosa within the oral cavity covering lips, tongue, palate, gingiva, pharynx, or retropharynx.


Gonadal calcification

Deposition of calcium salts in gonadal tissue.


Facial-lingual fasciculations

Fasciculations affecting the tongue muscle and the musculature of the face.


Renal neutrophilic tubulitis

Infiltration of the renal tubular epithelium by neutrophils.


Pulmonary arteriovenous malformation

Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins.


Abnormal electrophysiology of sinoatrial node origin

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


Central diaphragmatic hernia

A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present.


Fractured coccyx

A partial or complete breakage of the coccyx.


Symphalangism affecting the distal phalanx of the 4th toe


Curved distal phalanx of the 5th finger

Curved appearance of the distal phalanx of the 5th (little) finger.


Pleural mass

A mass in the pleura seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics).


Lichenoid skin lesion

Mutliple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple), shiny, isolated, flat-topped papules and plaques.


Fixated interest with abnormal focus

A fixated interest in a specific topic that is atypical for the social context of the individual, such as topics of a non-social nature like fossils or vacuum cleaners.


hair follicle neoplasm

A benign or malignant neoplasm arising from the hair follicle.


Elevated CSF gamma-aminobutyric acid concentration


Aplasia/hypoplasia involving bones of the upper limbs

Absence (due to failure to form) or underdevelopment of the bones of the upper limbs.


Complete duplication of the middle phalanx of the 3rd toe

Complete duplication of middle phalanx of third toe.


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

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


Focal impaired awareness sensory seizure with olfactory features

A focal sensory seizure with olfaction in which awareness is partially or fully impaired at some point during the seizure.


Axial malrotation of the kidney

An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney.


Increased circulating surfactant protein level

An increased concentration of a surfactant protein in the blood circulation. Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions. These two proteins are detectable in the bloodstream and an elevated level may reflect idiopathic pulmonary fibrosis.


Irregular vertebral endplates

An irregular surface of the vertebral end plates, which are normally relatively smooth.


Oligoarthritis

A type of arthritis that affects up to four joints in the first six months of disease.


Pretesticular azoospermia

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


Left aortic arch with right descending aorta and right ductus arteriosus

The ring may be completed by the ductal ligament.


Internal carotid artery calcification

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


Decreased lymphocyte proliferation in response to anti-CD3

A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3.


Melanin pigment aggregation in hair shafts


Pulmonary interstitial thickening

Pathological thickening of the pulmonary interstitium visualized radiographically and divided into interlobular and intralobular septal thickening.


Increased anti-bacteria IgE antibody level

Increased level of IgE antibody against bacteria.


Impaired platelet aggregation

An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.


cutis marmorata telangiectatica congenita

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.


nevus comedonicus syndrome

A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood.


Short 3rd metacarpal

Short third metacarpal bone.


Reduced beta/alpha synthesis ratio

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


Abnormal alveolar type II pneumocyte morphology

Any structural abnormality of alveolar type 2 (ATII) cells.


Ivory epiphysis of the distal phalanx of the 4th finger

Sclerosis of the epiphysis of the distal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Anti-MIT3 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against MIT3.


Antihelical shelf

Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha.


Curved distal phalanx of the 5th toe

A deviation from the normal straight form of the distal phalanx of the fifth toe.


Cortical radial artery intima/media liquefactive necrosis

A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.


Enlarged epiphysis of the middle phalanx of the 2nd finger


Discontinuous ascending root of helix

Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid.


Abnormal left ventricular outflow tract morphology

An abnormality of the outflow tract of the left ventricle.


Increased proportion of memory B cells

An elevation in the proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).


fibroblastic neoplasm

A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts.


Agranulocytosis

Marked decrease in the number of granulocytes.


Abnormal fetal central nervous system morphology

An anomalous structural finding of the fetal central nervous system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.


Caesarian section

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


Smooth septal thickening on pulmonary HRCT

Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a smooth appearance of the interlobular septa.


Total hyposmia

Reduced ability to detect any qualitative olfactory sensation.


Platonychia

Abnormal flat nail.


Focal aware vocal automatism seizure

A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset and during which awareness is fully retained throughout.


Focal atonic seizure

A focal seizure characterized at onset by sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting more than 500 ms but less than 2 seconds. It may involve the head, trunk, jaw or limb musculature.


Anti-aminoacyl-tRNA synthetase antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a tRNA synthetase enzyme.


Frequent temper tantrums

Temper tantrums that occur more frequently than usual.


acheiria

The total absence of the hand, with no bony elements distal to the radius or ulna.


Patchy sclerosis of 2nd finger phalanx

Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger.


Stiff wrist

A sensation of tightness in the wrist joint when attempting to move it, especially after a period of inactivity.


Abnormality of ductus venosus blood flow

A first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus.


Interictal epileptiform activity

Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure.


Fragmentation of the epiphyses of the 4th finger

Fragmented appearance of the epiphyses of the 4th finger.


Decreased specific antibody response to infection

A reduced ability to synthesize antibodies against antigens from an infectious agent or pathogen (such as bacteria, viruses, parasites, etc.), as measured by antibody titer determination following infection.


Accumulation of lipid droplets in small-bowel enterocytes


Generalized hirsutism

Abnormally increased hair growth over much of the entire body.


Cone-shaped epiphyses of the 5th finger

A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.


Predominantly dermal neutrophilic infiltrate

Collection of neutrophils in the dermis.


Abnormal circulating pregnenolone concentration

An abnormality of the concentration of pregnenolone in the blood.


Exanthem

A widespread rash.


Occipital meningocele

A herniation of meninges through a congenital bone defect in the skull in the occipital region.


Focal emotional seizure with pleasure

Focal emotional seizure with pleasure is characterized by the presence of a positive emotional experience with pleasure, bliss, joy, enhanced personal well-being, heightened self-awareness or ecstasy.


Abnormal female reproductive system physiology


Auditory sensitivity

Decreased tolerance to sound.


Narrow femoral neck

An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).


Persistent open anterior fontanelle

The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age.


Abnormal circulating deoxycorticosterone level

An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone.


Abnormal lung lobation

A developmental defect in the formation of pulmonary lobes.


Increased neutrophil ribosomes

An increased number of ribosomes detected in neutrophils.


Intrapartum fever

The occurence of maternal fever during labor.


aprosencephaly

A very rare congenital brain defect in which the cerebral cortex, striatum, globus pallidus, thalamus, hypothalamus, and eyes are absent or rudimentary.


Renal interstitial inflammation

Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells.


Rosenthal fibers

Thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on H&E staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders.


Absent ray

The absence of all phalanges of a digit and the associated metacarpal /metatarsal.


Abnormal amyloid beta 40 peptide CSF concentration

Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta40, which is 40 amino acids in length, is the shorter form.


Froment sign

An abnormal result of a physical examination of the the hand that tests for palsy of the ulnar nerve. This nerve innervates the adductor pollicis and interossei muscles and thereby enables adduction of the thumb and extension of the interphalangeal joint. An abnormal result consists in reduced functionality and muscular weakness in the pinch grip between the thumb and index finger of the affected hand as the patient attempts to pinch a piece of paper that the examiner tries to pull away. The flexor pollicis longus muscle tries to compensate for the weakness by flexing the tip of the thumb at the interphalangeal joint.


Focal impaired awareness emotional seizure with paranoia

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


Increased level of galactitol in urine

An increase in the level of galactitol in the urine.


Auditory hypersensitivity

Hyperresponsive to sound that is abnormal in intensity and/or frequency.


tricuspid valve stenosis

Narrowing or stricture of the tricuspid orifice of the heart.


Neurenteric cyst

The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium.


Double inlet atrioventricular connection

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


Triangular epiphysis of the distal phalanx of the 3rd finger

A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.


Anti-PKCgamma antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against protein kinase Cgamma.


Short nasal septum

Reduced superior to inferior length of the nasal septum.


Small proximal tibial epiphyses

Reduced size of the proximal epiphysis of the tibia.


Elevated 7-dehydrocholesterol

Elevated 7-dehydrocholesterol levels.


Patchy sclerosis of the distal phalanx of the hallux


Abnormal renal arteriole intima/media morphology

Any structural anomaly located in the inner or middle layer of the arterioles of the kidney.


vulvodynia

Vulvodynia is a chronic pain syndrome that affects the vulvar area and occurs without an identifiable cause. Symptoms typically include a feeling of burning or irritation. For the diagnosis to be made symptoms must last at least 3 months.


Abnormal proportion of memory T cells

An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response.


Congenital pouch colon

A malformation of the colon in which a pouch-like dilatation of a varying degree of shortened colon is associated with an anorectal malformation. The pouch usually terminates in a fistulous communication with the genitourinary tract.


Abnormal CSF glutamine family amino acid concentration

Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid.


Distal/middle symphalangism of 2nd finger

Fusion of the terminal/distal and middle phalanges of the 2nd finger.


Grasp reflex

A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395].


Abnormality of the epiphyses of the elbow


Abnormal male urethral meatus morphology


Elevated urine glutaconic acid level

Amount of glutaconic acid in the urine above the upper limit of normal.


Single lineage myelodysplasia

Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic).


Heavy proteinuria

Severely increased levels of protein in the urine (1000-3000 mg per day in adults).


Elevated urine malonic acid level

Amount of malonic acid in urine above upper limit of normal.


Subcutaneous spheroids

Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray.


Infection-related seizure

Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever.


Atrophy of the dentate nucleus

Partial or complete wasting (loss) of dentate nucleus.


Aplasia/Hypoplasia of the frontal sinuses

Absence or underdevelopment of frontal sinus.


Delayed CNS myelination

Delayed myelination in the central nervous system.


Granulomatous cholangitis

Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts.


Renal tubular polyoma virus inclusions

Renal ltubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection.


Skin infectious agent

The presence of an infectious agent in the skin.


Super-refractory status epilepticus

Super-refractory status epilepticus is defined as refractory status epilepticus continuing for 24 h or more following initiation of anesthetic medications, including cases in which seizure control is attained after induction of anesthetic drugs but recurs on weaning the patient off the anesthetic agent.


Abnormality of the Achilles tendon

An abnormality of the Achilles tendon.


Increased anti-gluten IgE antibody level

Increased level of IgE antibody against gluten, a protein found in wheat, barley, and rye.


Abnormality of thalamus morphology

An abnormality of the thalamus.


Increased anti-nut food product IgE antibody level

Increased level of IgE antibody against nut food products such as peanuts or tree nuts, such as hazelnuts, walnuts, cashews, and almonds.


Focal cognitive seizure with dyscalculia/acalculia

A focal cognitive seizure characterized by dyscalculia / acalculia as the initial semiological manifestation.


Increased anti-animal protein IgE antibody level

Increased level of IgE antibody against animal proteins, such as albumins that are present in animal hair, dander, shed skin, saliva and urine.


Long penis

Penile length more than 2 SD above the mean for age.


Fibrocellular crescent

A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix.


Malignant rhabdoid tumor of the bladder

A rhabdoid tumor (a rare aggressive malignancies in infants and young children with a poor prognosis) originating in the urinary bladder.


Fractured epiphysis of middle phalanx of manus

A partial or complete breakage of the epiphysis of middle phalanx of manus.


Bowman capsular hyaline drops

An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material.


Euthyroid hyperthyroxinemia

Increased levels of thyroxine without evidence of clinical thyroid disease.


hypospadias

Hypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce.


Anti-centromere antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components.


Absent pubic hair

Absence of pubic hair.


Abnormal circulating A-type atrial natriuretic peptide concentration

A measurable change in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.


Reduced response to social cues

Abnormality in the way one responds to social cues such as a verbal cue (which should cause one to shift attention) or someone sharing their emotions (which should elicit a sympathetic response).


aortic valve calcification

Calcification of the aortic valve


Progressive proximal muscle weakness

Lack of strength of the proximal muscles that becomes progressively more severe.


Infracardiac total anomalous pulmonary venous connection

Type 3 total anomalous pulmonary venous connection.


Triangular-shaped open mouth

A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle.


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


Platybasia

A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base.


Abnormal spleen physiology

Any anomaly of the function of the spleen.


Soft skin

Subjective impression of increased softness upon palpation of the skin.


Interlobular bile duct destruction

Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts).


Abnormal CSF threonine concentration

Any deviation from the normal concentration of threonine in the cerebrospinal fluid.


Triangular shaped phalanges of the 5th toe


Anti-P/Q-type VGCC antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against P/Q-type voltage-gated calcium channels (VGCCs).


Abnormal pelvis bone ossification

An abnormality of the formation and mineralization of any bone of the bony pelvis.


Abnormal cementum morphology

Any structural anomaly of the cementum, which is the mineralized connective tissue covering the dental root. The cementum allows anchoring of the fibers of the periodontal ligament. Cementum is secreted by cementoblasts, which may be, later on, embedded in the cementum. Cementum can be acellular (along the two third coronal portion of the root) and cellular (in the apical and interradicular part of the root).


Inappropriate sinus tachycardia

Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands.


xanthinuria type I

A rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.


Hyperargininemia

An increased amount of arginine levels in the blood.


Abnormal mandible coronoid process morphology

An abnormality of a mandible coronoid process.


Slit-like opening of the exterior auditory meatus

A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit.


Elevated carcinoembryonic antigen level

An increased blood concentration of the carcinoembryonic antigen (CEA). CEA is a member of the immunoglobulin supergene family. The human CEA gene family is clustered on chromosome 19q and comprises 29 genes. CEA is highly expressed in embryonic tissue and in some cancers, and is a widely used tumor marker.


Hepatic calcification

The presence of abnormal calcium deposition in the liver.


Fetal vascular malperfusion

The term fetal vascular malperfusion (FVM) is used to describe placental pathology that is throught to result from an obstruction in fetal blood flow that could result from a number of conditions (eg, umbilical cord lesions, hypercoagulability, complications of fetal cardiac dysfunction, such as hypoxia, etc.).


Hypoplastic ischiopubic ramus

Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium.


Abnormal motor evoked potentials

An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways.


Thinning of the substantia nigra pars compacta

Reduced volume of pars compacta of the substantia nigra.


Recurrent shoulder dislocation

Shoulder dislocation occurring repeated times.


hydranencephaly

A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor.


Stippling of the epiphyses of the 5th toe

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th toe.


Cervical C3/C4 vertebral fusion

Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development.


Decreased small intestinal mucosa lactase level

Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges.


Intralobar nephrogenic rest

A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls.


Aspartic aciduria

A increased concentration of aspartic acid in the urine.


Anomaly of lower limb diaphyses

A structural abnormality of a diaphysis of the leg.


Irregular epiphysis of the proximal phalanx of the 5th toe


Hypoargininemia

A decreased concentration of arginine in the blood.


Ectopic tooth eruption

A condition in which the permanent teeth, because of deficiency of growth in the jaw or segment of jaw, assume a path of eruption that intercepts a primary tooth, causes its premature loss and produces a consequent malposition of the permanent tooth.


Fetal cerebral parenchymal hemorrhage

A type of fetal intracranial hemorrhage with bleeding into the parenchyma (tissue) of the brain.


Abnormality of the bed nucleus of stria terminalis

The stria terminalis is a slender, compact fiber bundle that connects the amygdala (amygdaloid body) with the hypothalamus and other basal forebrain regions. The bed nucleus of the stria terminalis is a limbic forebrain structure that receives heavy projections from, among other areas, the basolateral amygdala, and projects in turn to hypothalamic and brainstem target areas that mediate many of the autonomic and behavioral responses to aversive or threatening stimuli. This term refers to an anomaly of the bed nucleus.


Abnormal circulating carnosine concentration

Any deviation from the normal concentration of carnosine in the blood circulation.


Large clumps of pigment irregularly distributed along hair shaft


Fractured distal phalanx of pedal digit 1

A partial or complete breakage of the distal phalanx of pedal digit 1.


Facial cyanosis

Bluish discoloration of one or more regions of the face.


Irregular distal femoral epiphysis

Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular.


Duplication of the proximal phalanx of the hallux

Partial or complete duplication of the proximal phalanx of big toe.


Total colonic aganglionosis

A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon.


Decreased platelet glycoprotein Ib

Decreased platelet cell membrane concentration of glycoprotein Ib.


Dilatation of the ventricular cavity

A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole.


Increased cystatin C level

A elevated concentration of cystatin C in the blood circulation.


Malignant genitourinary tract tumor

The presence of a malignant neoplasm of the genital system.


Abnormal renal artery morphology

Any structural abnormality of the renal artery.


Infection associated neutropenia

Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan.


Magnesium ammonium phosphate crystalluria

Magnesium ammonium phosphate crystals in the urine.


Stapes ankylosis

Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles).


Duplication of bones involving the upper extremities


Low frustration tolerance

The feeling of frustration can be defined as an emotional reaction that occurs if a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration characterized by crying or temper tantrums (in children) or aggressive or other undesirable behaviors.


Frontal bossing

Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.


Anti-laminin antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against a laminin. Laminins are major components of the basement membrane.


focal epithelial hyperplasia of the oral mucosa

The occurrence of multiple or unique whitish or normal in color small papules or nodules in oral cavity, especially on labial and buccal mucosa, lower lip and tongue, and less often on the upper lip, gingiva and palate.


Reduced proximal interphalangeal joint space


Generalized hypotrichosis

Reduced or lacking hair growth in a generalized distribution.


Spinning

An excessive frequency of spinning one's body.


Grayish enamel

A grey discoloration of the dental enamel.


benign muscle neoplasm

A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue.


Decreased circulating alpha-fetoprotein concentration

Concentration of alpha-fetoprotein in the blood circulation below the lower limit of normal.


penile agenesis

An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities.


Anal mucosal leukoplakia

Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation.


Ductal bile plugs

Bile thrombi that form an obstruction (plug) in a dilated bile duct.


Anti-cyclic citrullinated peptide antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cyclic citrullinated peptide.


Dysgenesis of the basal ganglia

Structural abnormality of the basal ganglia related to defective development.


Abnormality of the fascia

An abnormality of fascia.


Intrinsic hand muscle atrophy

Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles.


Limb duplication

Congenital duplication of all or part of a limb.


Multiple renal cysts

The presence of many cysts in the kidney.


Bowel irritability

Intermittent abdominal pain with diarrhea and/or constipation.


Abnormality of pulmonary circulation

A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart.


Absent ossification of cervical vertebral bodies

A lack of bone mineralization of one or more body of cervical vertebra.


coxa vara

Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental.


Crouch gait

A gait disturbance that is characterized by excessive ankle dorsiflexion, knee and hip flexion during the stance phase.


Reduced tendon reflexes

Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.


Pseudocoarctation of the aorta

Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum.


Atretic occipital cephalocele

A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues.


Abnormal larynx morphology

Any anomaly of the structure of the larynx.


Aplasia of the 2nd metacarpal

Absence of the second long bone of the hand.


Increased circulating hypoxanthine concentration

Elevated concentration of hypoxanthine in the blood circulation.


Hypermobility of distal interphalangeal joints


Focal vocal automatism seizure

A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset.


Abnormal joint morphology

An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.


Abnormal cerebral ventricle morphology

Any structural abnormality of the cerebral ventricles.


Glomerular capillary wall duplication without cellular interposition

Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix, with or without endocapillary hypercellularity and no evidence of interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM.


Long fingers

The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand.


Increased glucose-6-phosphate dehydrogenase level in red blood cells

An increase in the level of glucose-6-phosphate dehydrogenase in red blood cells.


Increased anti-plant product IgE antibody level

Increased level of IgE antibody against antigens from plants and products derived from plants, such as wood or pollen.


Lower cranial nerve dysfunction

A functional abnormality affecting the lower cranial nerves, which include the paired 9th (glossopharyngeal), 10th (vagal), 11th (accessory) and 12th (hypoglossal) cranial nerves.


Transient hyperphenylalaninemia

A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine).


Enlarged epiphysis of the distal phalanx of the 4th finger

Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms.


Increased circulating insulin-like growth factor 1 concentration

An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation.


Elevated circulating o-phosphoserine concentration

An abnormally increased level of o-phosphoserine in the blood circulation. o-phosphoserine is a derivative of serine.


Increased urinary 11-deoxycortisol level

An abnormally elevated concentration of 11-deoxycortisol in the urine.


agammaglobulinemia

A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes.


Absent left sided atrioventricular connection

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


Fractured metatarsal bone of digit 5

A partial or complete breakage of the metatarsal bone of digit 5.


Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole

An autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by retained awareness throughout the seizure.


Contracture of the proximal interphalangeal joint of the 3rd toe

The proximal interphalangeal joint of the 3rd toe cannot be straightened actively or passively.


Abnormal vena cava morphology

An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava.


Absent neutrophil specific granules

Lack of specific granules in neutrophils.


Erythrocyte cylindruria

Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine.


Increased circulating copper concentration

An abnormally elevated concentration of copper in the blood circulation. This term refers to the total copper concentration.


Kinesiophobia

An excessive, irrational and debilitating fear to carry out a physical movement, due to a feeling of vulnerability to a painful injury or reinjury.


cervical vertebrae, agenesis of

Agenesis of one or more vertebrae of the cervical vertebral column.


Autonomic erectile dysfunction

Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system.


Fossa navicularis urethral stricture

A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis.


Decreased circulating purine concentration

Abnormally reduced concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring.


Abnormal antitragus morphology

An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch.


2-ethylhydracylic aciduria

An increased concentration of 2-ethylhydracylic acid in the urine.


Intermittent lactic acidemia

An intermittent (discontinuous) form of lactic acidemia.


Abnormal auditory evoked potentials

An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex.


Aplasia of the ovary

Aplasia, that is failure to develop, of the ovary.


Grade V vesicoureteral reflux

Vesicoureteral reflux with massive dilation of the collecting system and severe tortuosity of the ureter.


Abnormal pulmonary vein physiology

An abnormality of the function of the pulmonary veins.


Club-shaped distal femur

An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis.


hypertrichosis cubiti-short stature syndrome

Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.


Autoamputation of foot

Spontaneous detachment of a foot from the body.


Abnormal localization of kidney

An abnormal site of the kidney.


Abnormality of von Willebrand factor

Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.


Abnormality of the protein C anticoagulant pathway

An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC.


Geophagia

The practice of eating earth or soil-like substrates such as clay or chalk.


Intralobular septal thickening

Intralobular septal thickening is a computed tomography finding of increased width of the walls (septa) within a pulmonary lobule. Secondary pulmonary lobules represent a cluster of up to 30 acini 9 supplied by a common distal pulmonary artery and bronchiole. These clustered acini are bounded by interstitial fibrous septa (interlobular septa) which outline an irregular polyhedron of varying size between 1 and 2.5 cm. Interlobular septal thickening is seen on chest radiographs as thin linear opacities at right angles to and in contact with the lateral pleural surfaces near the lung bases. In contrast, intralobular septal thickening are visible as fine linear opacities in a lobule when the intralobular interstitial tissue is abnormally thickened. When numerous, they may appear as a fine reticular pattern.


EEG with periodic complexes

Periodically occurring generalized periodic complexes.


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


Apneic episodes in infancy

Recurrent episodes of apnea occurring during infancy.


Abnormality of hepatobiliary system physiology

A functional anomaly of the hepatobiliary system


Irregular epiphysis of the proximal phalanx of the 2nd toe


Serpentine fibula

Elongated curved (S-shaped) fibulae.


Left aortic arch with retroesophageal right subclavian artery

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


Colonic arteriovenous malformation

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


Abnormal esterified to free carnitine ratio

Any deviation from the normal ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.


Decreased proportion of class-switched memory B cells

A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.


Small epiphysis of the distal phalanx of the hallux


Recurrent, involuntary and intrusive distressing memories

After suffering psychological trauma, people can repeatedly experience sensory-perceptual impressions of the event, which intrude involuntarily into consciousness. These intrusive memories typically take the form of visual images (e.g., pictures in the mind's eye), but can also include sounds, smells, tastes and bodily sensations, and come with a range of negative emotions associated with the hotspots in the trauma memory.


Positive pathergy test

With the pathergy test, a small, sterile needle is inserted into the skin of the forearm. The site of injectionis circuled and observed after one and two days. If a small red bump or pustule at the site of needle insertion occurs, the pathergy test is considered to have a positive (abnormal) result.


Duplication of proximal phalanx of toe

Partial/complete duplication of a proximal phalanx of toe.


Increased level of hexanoylglycine in urine

Elevated concentration of hexanoylglycine in the urine.


Fibrofatty replacement of right ventricular myocardium

Replacement of the myocardium of the right ventricular free wall by fat and fibrous tissue.


Metatarsal diaphyseal endosteal sclerosis

Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones.


CSF anti-NMDA receptor antibody positivity

The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor.


Abnormality of uvular muscle

An abnormality of the uvular muscle


Gluten allergy

Hypersensitivity in form of an adverse immune reaction against gluten.


Focal impaired awareness emotional seizure with fear/anxiety/panic

Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is partially or fully impaired at some point during the seizure.


Aplasia/Hypoplasia involving the sinuses

Absence or underdevelopment of a cranial sinus or sinuses.


Peg-like central prominence of distal tibial metaphyses


Focal impaired awareness sensory seizure with cephalic sensation

A focal sensory seizure with cephalic sensation in which awareness is partially or fully impaired at some point during the seizure.


Reduced hair sulfur content

Abnormally low amount of sulfur in hair.


Abnormal circulating beta globulin level

A deviation from the normal concentration of beta globulin. The beta globulins are a group of globular (globe-shaped) proteins in blood.


Elevated urine 2-methylcitric acid level

Amount of 2-methylcitric acid in the urine above the upper limit of normal.


Lip discoloration

Lightening or darkening of the lips from their usual coloring.


Plasmacytosis

An abnormally increased number of plasma cells in tissues, exudates, or blood


Polyalveolar lobe

An elevation of the total count of alveoli as determined by microscopic point-counting of randomly taken lung sections, not secondary to abnormalities in number, size and structure of the airways. In polyaveolar lobe, the number of alveoli is generally increased three to fivefold.


Complete duplication of the proximal phalanx of the 4th finger

Complete duplication of the fourth proximal phalanx of hand.


Decreased circulating total IgM

An abnormally decreased level of immunoglobulin M (IgM) in blood.


Macronodular adrenal hyperplasia

Adrenal hyperfunction associated with multiple bilateral adrenal nodules, usually more than one centimeter in diameter.


Increased proportion of effector memory CD4-positive, alpha-beta T cells

An abnormally elevated proportion of effector memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.


Calf muscle hypertrophy

Muscle hypertrophy affecting the calf muscles.


Repeated focal motor seizures

A type of focal motor status epilepticus characterized by repeated motor, typically clonic events repeatedly affecting the same segments of the body with spread of clonic movements through contiguous body parts unilaterally, and repeating over a sufficiently prolonged period to reach a diagnosis of status epilepticus.


pyropoikilocytosis, hereditary

An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency.


Neonatal insulin-dependent diabetes mellitus


Pachygyria

Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.


Elevated urine erythritol level

Amount of erythritol in the urine above the upper limit of normal.


Intercostal retractions

A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress.


Fetal intracranial hemorrhage

Abnormal bleeding inside the skull (cranium) of a fetus.


Dilated vas deferens

Abnormal increase in diameter (expansion) of the vas deferens.


Abnormal interest

Any deviation from normal intensity or subject of a person's interests, which can be defined as a state of giving selective attention to something.


Proximal amyotrophy

Amyotrophy (muscular atrophy) affecting the proximal musculature.


Abnormality of hair texture

An abnormality of the texture of the hair.


Impaired ristocetin-induced platelet aggregation

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


Hypothalamic atrophy

Partial or complete wasting (loss) of hypothalamus tissue that was once present.


Duplication of phalanx of 2nd finger

This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.


Renal tubular epithelial cell sloughing

At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast.


Abnormal proportion of CD4-positive T cells

Any abnormality in the proportion of CD4-positive T cells relative to the total number of T cells.


Patchy sclerosis of the proximal phalanx of the hallux


Bracket epiphysis of the middle phalanx of the 5th toe


Esophageal furrows

Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus).


Talipes calcaneovarus

A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus.


Increased carotid artery intimal medial thickness

An increase in the combined thickness of the intima and media of the carotid artery.


Fluctuating splenomegaly

Intermittently increased size of the spleen.


Abnormality of the epiphysis of the proximal phalanx of the 3rd finger


Increased urinary 11-deoxytetrahydrocorticosterone level

An abnormally elevated concentration or amount of 11-deoxytetrahydrocorticosterone the urine.


Extension of hair growth on temples to lateral eyebrow

A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows.


Gastrointestinal telangiectasia

Telangiectasia affecting the gastrointestinal tract.


Focal impaired awareness pedal automatism seizure

A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.


Abnormal glucose-6-phosphate dehydrogenase level in red blood cells

An anomaly in the level of glucose-6-phosphate dehydrogenase in red blood cells.


EEG with temporal sharp waves

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


Reduced object sharing

An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects with parents or peers during object play. Object sharing typically develops within the first two years of life.


Tonofilament clumping

Formation of lumps of tonofilaments, which are bundles of keratin filaments. In some but not all epithelia, keratin filaments are conspicuously bundled as tonofilaments. Inside the cell they braid the nucleus, span through the cytoplasm and are attached to the cytoplasmic plaques of the typical epithelial cell-cell junctions, the desmosomes.


Enlarged metaphyses

Abnormal increase in size of one or more metaphyses.


myeloproliferative disorder, chronic, with eosinophilia


Arcuate vein medial hypertrophy

Increased thickness of middle layer of the arcuate veins of the kidney.


Abnormality of the musculature of the thorax

A disease or lesion affecting the muscles of the thorax.


ovarian thecoma

A stromal tumor that arises from the ovary and is characterized by the presence of cells that contain lipid and resemble theca cells. The vast majority of cases are benign.


Reduced proportion of mucosal-associated invariant T cells

A decreased proportion of circulating mucosal-associated invariant T (MAIT) cells relative to total T cell count.


Orthokeratotic hyperkeratosis

A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei.


Abnormal coronary sinus morphology

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


Morphological abnormality of the vestibule of the inner ear

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


Posterior atrophy of corpus callosum

The presence of atrophy (wasting) of the posterior portion of the corpus callosum.


Abnormal atrial septum morphology

An abnormality of the interatrial septum.


Duplication of distal phalanx of toe

A partial or complete duplication of one or more distal phalanx of toe.


Agenesis of primary mandibular central incisor

Agenesis of lower primary incisor.