Transverse facial cleft

A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear.


Ileal adenocarcinoma

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

A malignant epithelial tumor with a glandular organization that originates in the ileum.


Abdominal ectopia cordis

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


Decreased mid-arm muscle circumference

Reduction of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children.


Absent right superior vena cava

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


Transitional atrioventricular canal defect

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


Decreased circulating chenodeoxycholic acid concentration

A reduced concentration of chenodeoxycholic acid in the blood circulation.


Recurrent deep vein thrombosis

Repeated episodes of the formation of a blot clot in a deep vein.


Abnormal adipose tissue morphology

An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes.


Malignant rhabdoid tumor of muscle

A malginant rhabdoid tumor (MRT) originating in muscle tissue.


Patchy sclerosis of the middle phalanx of the 3rd toe


Decreased circulating norepinephrine concentration

Concentration of norepinephrin in the blood circulation below the lower limit of normal.


Elevated CSF saccharopine concentration

Concentration of saccharopine in the cerebrospinal fluid (CSF) above the upper limit of normal.


Cortical radial artery intimal/medial amyloidosis

Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy


Positive carpal Tinel sign

The Tinel test is performed by lightly tapping (percussing) over the median nerve. It is positive (abnormal) if the patient experiences pain and paresthesias (tingling, numbness) along the distribution of the median nerve.


Enlarged posterior fossa

Abnormal increased size of the posterior cranial fossa.


Immediate Echolalia

Immediate repetition of another person's speech.


Decreased proportion of CD4+CD25+ regulatory T cells

An abnormally decreased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.


Decreased CSF serine concentration

Abnormally decreased levels of serine in cerebrospinal fluid.


Medial calcification of large arteries

Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries.


Abnormal four chamber view of the fetal heart

The four-chamber (4Ch) view of the fetal heart is the most widely used screening examination for the detection of structural cardiac abnormalities during routine fetal ultrasonography. In the healthy normal fetus, the apical 4Ch view demonstrates four well-developed chambers, a concordant atrioventricular (AV) connection, unobstructed AV valves (mitral and tricuspid valves), the foramen ovale flap opening into left atrium (LA), and an intact interventricular septum. Additionally, the pulmonary venous opening can be visualized at the LA wall. Any structural deviations from normal anatomy may lead to congenital heart disease that can be determined by the 4Ch view of the fetal heart's ultrasound imaging.


Cerebral cortical atrophy

Atrophy of the cortex of the cerebrum.


Abnormal circulating ferritin concentration

A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma.


Abnormal subarachnoid space morphology

Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid.


Bilateral lung agenesis

Bilateral lack of development of the lungs.


Duplication of the 1st metatarsal

A developmental defect consisting in the duplication of the first metatarsal bone.


Small epiphysis of the middle phalanx of the 5th finger

Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms.


Late onset atopic dermatitis

A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis.


Dust mite allergy

Hypersensitivity in form of an adverse immune reaction against dust mites.


volvulus of midgut

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

A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction.


Thin proximal phalanges with broad epiphyses of the hand


Abnormality of the extrinsic pathway

An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade.


Elevated systolic blood pressure

Abnormal increase in systolic blood pressure.


Calf muscle pseudohypertrophy

Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.


Impaired phorbol myristate acetate-induced platelet aggregation

Abnormal response to phorbol myristate acetate (PMA) as manifested by reduced or lacking aggregation of platelets upon addition of PMA.


Complete left sided absence of pericardium

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


Chronic absent circulating IgD

A lasting absence of immunoglobulin D (IgD) in the blood, whereby at most trace quantities of IgD can be measured.


Abnormality of radial diaphysis

An anomaly of the radial diaphysis.


Increased urinary neutrophil gelatinase-associated lipocalin

An increased concentration of neutrophil gelatinase-associated lipocalin in the urine (there is no generally accepted threshold, but some studies choose a threshold of above 150 nanogram per milliliter).


Distal sensory impairment of all modalities

Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities.


Anterior plagiocephaly

Asymmetry of the anterior part of the skull.


Perihepatic enhancement

Increased signal (contrast enhancement) surrounding the liver observed on computer tomography or magnetic resonance imaging following administration of contrast agents.


Perinuclear antineutrophil antibody positivity

The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils.


Trophic changes related to pain

Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails.


EEG with polyspike wave complexes

The presence of complexes of repetitive spikes and waves in EEG.


Monkey wrench femoral neck

The femoral neck region shows medial metaphyseal beaking and a significant enlargement of the lesser trochanter (with some enlargement also of the greater trochanter), producing a monkey wrench (Swedish key) configuration of the proximal femur. A monkey wrench refers to a type of adjustable wrench with one fixed and one adjustable jaw at right angles to a straight handle.


Skin detachment

Loss of sections of skin either spontaneously or after gentle handling.


Abnormal circulating leptin concentration

An abnormal concentration of leptin in the blood.


Camurati-Engelmann disease

Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.


Tubulointerstitial viral infiltration

Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry.


Abnormal factor IX activity

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


Aplasia/Hypoplasia involving the musculature of the upper limbs

Absence or underdevelopment of the musculature of the upper limbs.


Abnormality of the knee

An abnormality of the knee joint or surrounding structures.


Reduced factor IX activity

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


Mediastinal lymphadenopathy

Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes.


EEG with photoparoxysmal response grade III

Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation.


Thickened elastic fibers in the dermis

An increase of the diameter of elastic fibers in the dermis.


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

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


Complete duplication of the proximal phalanx of the 2nd toe

Complete duplication of proximal phalanx of second toe.


Aplasia/hypoplasia involving the skeleton

Absence (due to failure to form) or underdevelopment of one or more components of the skeleton.


Abnormal delivery

An abnormality of the birth process.


Cryptozoospermia

A type of oligozoospermia in which spermatozoa can be detected in an ejaculate only after centrifugation and inspection of the pellet.


4-5 finger syndactyly

Syndactyly with fusion of fingers four and five.


Hyperconvex nail

When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity.


Overriding aorta

An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle.


Erythroid dysplasia

Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts.


Dermatological manifestations of systemic disorders


Vertebral segmentation defect

An abnormality related to a defect of vertebral separation during development.


Patchy sclerosis of 3rd toe phalanx

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


Glomerular capillary microaneurysm

Glomerular capillary dilatation due to loosening/detachment of the glomerular basement membrane (GBM) from its anchoring points, usually in the context of mesangiolysis or nodular glomerulosclerosis.


Fatigable weakness of swallowing muscles

A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.


Abnormal 5th finger morphology

An abnormality affecting one or both 5th fingers.


3-hydroxyisovaleric aciduria

Concentration of 3-hydroxyisovaleric acid in the urine above the normal range.


Bracket epiphyses of the 5th finger

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


Renal cortical cysts

Cysts of the cortex of the kidney.


Glomerular capillary congestion

Global distention of glomerular capillaries with intraluminal intact red blood cells.


Gastric diverticulum

An outpouching of the gastric wall.


Focal impaired awareness sensory seizure with hot-cold sensations

A focal sensory seizure with hot-cold sensations in which awareness is partially or fully impaired at some point during the seizure.


Global developmental delay

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.


Abnormal neural tube morphology

Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord).


Decreased middle cerebral artery pulsatility index

Abnormally reduced blood flow pulsatility in in the middle cerebral artery (MCA). The pulsatility index (PI) is calculated using the following equation PI = (peak systolic velocity-end-diastolic velocity)/mean velocity.


Episodic hyperhidrosis

Intermittent episodes of abnormally increased perspiration.


Atrophic muscularis propria

Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis.


Ovarian papillary adenocarcinoma

The presence of a papillary adenocarcinoma of the ovary.


Abnormality of styloglossus muscle

An abnormality of the styloglossus muscle.


Osteolytic defects of the distal phalanges of the toes


Scapular aplasia

Absence of the scapulae.


Focal aware undressing automatism seizure

A type of focal automatism seizure characterized by involuntary undressing at onset and during which awareness is fully retained throughout.


Increased circulating A-type natriuretic peptide concentration

A measurable elevation 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.


Subpleural curvilinear line

This finding is a thin curvilinear opacity, 1-3 mm in thickness, lying less than 1 cm from and parallel to the pleural surface. It corresponds to atelectasis of normal lung if seen in the dependent posteroinferior portion of lung of a patient in the supine position and is subsequently shown to disappear on CT sections acquired with the patient prone. It may also be encountered in patients with pulmonary edema or fibrosis (other signs are usually present).


Soft tissue swelling of interphalangeal joints


Reduced epidermal keratin 14 protein expression

Amount of keratin 14 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.


Absent epiphysis of the distal phalanx of the thumb

Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb.


Os odontoideum

Separation of the odontoid process from the body of the axis.


Intermittent thrombocytopenia

Reduced platelet count that occurs sporadically, i.e., it comes and goes.


frontotemporal dementia

Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy.


Elevated CSF N-carbamyl-beta-alanine concentration

The concentration of N-carbamyl-beta-alanine in the cerebrospinal fluid is above the upper limit of normal.


Widened subarachnoid space

An increase in size of the anatomic space between the arachnoid membrane and pia mater.


Self hugging

Involuntary, tic-like movements consisted of crossing both arms across the chest and tensing the body or clasping the hands and squeezing the arms to the sides. The movements last a few seconds and may occur in series or flurries, generally accompanied by facial grimacing and occasional grunting.


Granular casts

A type of acelluar casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented.


Epidermal acanthosis

Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).


EEG with focal spikes

EEG with focal sharp transient waves of a duration less than 80 msec.


Abnormality of the middle phalanges of the toes


Agenesis of central incisor

Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor.


Ivory epiphyses of the 2nd finger

Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


facial hemiatrophy

Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved.


Persistent EBV viremia

Persistent presence of Epstein-Barr virus in the blood.


Hypnopompic hallucination

Brief hallucinations that occur as you wake up in the morning, in a state that falls somewhere between dreaming and being fully awake.


Arcuate vein medial atrophy

Atrophy (wasting, decreased thickness) of the middle layer of the arcuate veins of the kidney.


Fetal intraventricular hemorrhage with ventriculomegaly

A type of fetal intraventricular hemorrhage (IVH) characterized by spillover to ventricles with flooding of 50% or more of one or both lateral ventricles accrued accompanying ventriculomegaly, but with no apparent brain parenchymal injury. This type of IVH may be defined as a diameter exceeding 15 mm in the transverse diameter of the lateral ventricular atrium as visualiuzed by prenatal sonography.


hyperostosis cranialis interna

Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull.


Abnormality of the eleventh cranial nerve.


Renal cortical microcysts

Cysts of microscopic size confined to the cortex of the kidney.


sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

An autosomal recessive condition that is caused by mutation(s) in the MOCS1 gene, encoding molybdenum cofactor biosynthesis protein 1. it is characterized by poor feeding, encephalopathy, seizures and dysmorphic facial features.


Contractures of the metatarsophalangeal joint of the hallux

The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively.


Increased circulating band cell count

The number of band cells in the peripheral blood circulation is above the upper limit of normal. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small secondary granules, and a nucleus:cytoplasm ratio of 1:2.


Anti-HLA antibody positivity

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


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

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


parietal foramina

Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.


Abnormal cerebral morphology

Any structural abnormality of the telencephalon, which is also known as the cerebrum.


Bullet-shaped 3rd toe phalanx

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


Anti-BP230 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against BP230.


Elevated urinary cytidine

Increased levels of urinary cytidine, a pyrimidine nucleoside in which cytosine is attached to ribofuranose via a beta-N1 glycosidic bond.


Decreased esterified to free carnitine ratio

A reduced ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.


Acinar dysplasia

Arrest of lung development in the pseudoglandular stage (weeks 8 to 16 of human gestation) resulting in small sized lungs, predominantly composed of bronchial and bronchiolar structures embedded in abundant loose mesenchyme that is poorly vascularized. Acinar structures are essentially absent, with no significant formation of saccules and no alveoli.


Left ventricular diastolic dysfunction

Abnormal function of the left ventricule during left ventricular relaxation and filling.


Enlarged epiphysis of the proximal phalanx of the 4th toe


Thin-cap fibroatheroma

Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring less than 65 micrometers and typically containing numerous macrophages, and is considered to be the precursor lesion of plaque rupture which is the most common cause of coronary thrombosis.


Tactile agnosia

The inability to recognize objects by touch is called tactile agnosia.


Expressive aphasia

Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it.


Increased number of lymph nodes

An abnormally elevated number of lymph nodes in an anatomical region.


Complete duplication of the distal phalanx of the 3rd toe

Complete duplication of distal phalanx of third toe.


Tortuous cerebral arteries

Excessive bending, twisting, and winding of a cerebral artery.


microlissencephaly

Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years.


Neoplasm of the male external genitalia

A tumor (abnormal growth of tissue) of the male external genitalia.


Short proximal phalanx of the 5th toe

Developmental hypoplasia of the proximal phalanx of fifth toe.


PR segment elevation

An increase in voltage of the PR segment above baseline.


Abnormal psychotic pattern

Any abnormal pattern of psychotic experiences, where an individual has significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality.


Misophonia

An adverse response (dislike) to sound no matter what volume the sound is, characterized by a strong negative reaction to soft sounds that can sometimes be further triggered by seeing the source of the offending sound.


Decreased urine output

A decreased rate of urine production.


Uninodular goiter

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


Symphalangism of the 3rd finger

Fusion of two or more bones of the 3rd finger.


Pulmonary cyst

A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid.


Bullet-shaped middle phalanx of the 4th toe

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


Contractures of the distal interphalangeal joint of the 5th toe

The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively.


Hypomimic face

A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation.


Abnormal incisor morphology

An abnormality of morphology of the incisor tooth.


lissencephaly spectrum disorders

The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterized by simplification or absence of folding) associated with abnormal organization of the cortical layers as a result of neuronal migration defects during embryogenesis.


Increased renal tubular phosphate reabsorption


Peripheral nerve polyglucosan inclusion bodies

Accumulation of a poorly branched and poorly spherical amylopectin-like glycogen (polyglucosan) in peripheral nerve fibers.


Abnormal peripheral nervous system synaptic transmission

An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system.


Increased VLDL cholesterol concentration

An increase in the amount of very-low-density lipoprotein cholesterol in the blood.


Pulmonary artery aneurysm

An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery.


Anal margin melanoma

A melanoma that originates in the anal margin.


Rhythmic movements of the tympanic membrane

Regularly occuring motion of the tympanic membrane (eardrum), which is located between the inner and middle ear. This can be a manifestation of tensor tympani myoclonus, which can also be ascertained as sawtooth patterns on long-term tympanometry.


Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole

A focal autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by impaired awareness at some point during the seizure.


Calcification of the auricular cartilage

Ossification affecting the external ear cartilage.


Abnormal intrarenal artery morphology

An anomalous structure of an artery located in the kidney.


Auricular pit

Small indentation in the lower part of the ascending helix, concha, or in the crus helix.


EEG with occipital epileptiform discharges

Focal epileptiform EEG discharges recorded in the occipital region.


Long phalanx of finger

Increased length of multiple or a single phalanx of finger.


Failure to thrive secondary to recurrent infections

Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections.


Aspirin-induced asthma

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


A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment.


Increased iduronate sulfatase level

An increased level of iduronate-2-sulfatase activity in the blood.


Focal aware autonomic seizure with pupillary dilation/constriction

A focal autonomic seizure with pupillary dilation / constriction characterized by retained awareness throughout the seizure.


Rapp-Hodgkin syndrome

A form of ectodermal dysplasia characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate.


Calvarial osteosclerosis

An increase in bone density affecting the calvaria (roof of the skull).


Atrophy/Degeneration affecting the central nervous system


Abnormality of the xiphoid process

An abnormality of the xiphoid process of the sternum.


Hockey-stick palmar crease

An abnormality of the upper palmar crease whereby the crease widens and ends between the second and third fingers and is said to resemble a hockey stick.


Broad radial diaphysis

Increase in width of the diaphysis of radius.


Clostridium difficile enteritis

An infection of the small intestine (enteritis) by clostridium difficile.


Placenta percreta

Placenta percreta is a rare form of morbidly adherent placenta with penetration through the myometrium reaching serosa and even adjacent pelvic organs.


Abnormal fourth ventricle morphology

An abnormality of the fourth ventricle.


Abnormal movements of the whole body

Abnormal movements of the whole body.


Opportunistic bacterial infection

An infection that is caused by a bacterium that would generally not be able to cause an infection in a host with a normal immune system. Such bacteria take advantage of the opportunity, so to speak, that is provided by a weakened immune system.


Pursed lips

An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance.


Dilatated internal auditory canal

The presence of a dilated inner part of external acoustic meatus.


Impaired renal tubular reabsorption of low molecular weight protein

Increased loss of low-molecular weight proteins by the kidneys, measured in terms of the fractional excretion (FE). The FE of low-molecular-weight proteins such as beta2-microglobulin can be measured in terms of plasma and urine concentrations, since urinary low-molecular-weight protein concentrations can vary with water reabsorption.


Abnormal glucose-6-phosphate dehydrogenase level in leukocytes

An anomaly in the level of glucose-6-phosphate dehydrogenase in leukocytes.


Deficit in grammar

Deficit in grammar, including syntax and morphology.


Decreased CSF homovanillic acid concentration

Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.


Sacral dimple

A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.


Elevated circulating reverse T3 concentration

Abnormally increased concentration of reverse T3 (3,3',5'-triiodothyronine or rT3) in the blood circulation.


Enlarged lunula

Abnormal enlargement of the visible portion of the distal nail matrix that extends beyond the proximal nail fold, which is refered to as the lunula.


Neck muscle weakness

Decreased strength of the neck musculature.


Anti-PM-Scl75 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl75.


Wide penis

Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age.


Testicular mass

An abnormal bulge or lump in a testis. A testicular mass has a long differential diagnosis including testicular torsion, epididymitis, acute orchitis, strangulated hernia and testicular cancer.


Decreased proportion of naive B cells

A reduction below normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.


Increased urinary renal tubular epithelial cell count

An increased number of renal tubular epithelial cells per high-power field in urinanalysis.


Pituitary gland cyst

A fluid-filled sacs that develop on or near the pituitary gland.


Hypoplastic ischia

Underdevelopment of the ischium, which forms the lower and back part of the hip bone.


Multiple pancreatic beta-cell adenomas

The presence of multiple pancreatic islet cell adenomas.


Ash-leaf spot

A hypopigmented spot in the shape of a leaf from the mountain ash tree.


Sparse body hair

Sparseness of the body hair.


Renal arteriole endoarterial hypercellularity

Abnormal and excessive number of cells (hypercellularity) in the lining (endothelium) of the arterioles of the kidney.


Metaphyseal cupping

Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance.


double outlet right ventricle

Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle.


Partial-complete absence of 5th phalanges


Dilatation of mesenteric artery

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


Abnormal QT interval

Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).


Basilar invagination

Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama).


Elevated CSF aspartylglucosamine concentration

Concentration of aspartylglucosamine in the cerebrospinal fluid (CSF) above the upper limit of normal.


Hypoinsulinemia

A decreased concentration of insulin in the blood.


Mixed hypo- and hyperpigmentation of the skin


Anti-phosphatidyl choline antibody positivity

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


Fasting hyperinsulinemia

An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake.


soft tissue sarcoma

A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones.


Abnormality of the musculature

Abnormality originating in one or more muscles, i.e., of the set of muscles of body.


Fractured scapula

A partial or complete breakage of the scapula.


Toe deformity

Abnormal positioning of toe phalanges. Deformities of the lesser toes often occur gradually, though they can be brought on by trauma. The main adult sagittal plane deformities consist of claw toes, hammer toes and mallet toes. Axial plane deformities include crossover toes.


Anti-B23 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against B23.


Vertebral hypoplasia

Small, underdeveloped vertebral bodies.


Abnormal circulating metabolite concentration

An abnormal level of an analyte measured in the blood.


Recurrent Serratia marcescens infections

Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection.


Enlarged epiphyses of the middle phalanges of the hand


Pontine tegmental cap

An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle.


Small nail

A nail that is diminished in length and width, i.e., underdeveloped nail.


Ganglioneuromatosis

Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers.


Triangular shaped phalanges of the hallux


Decreased circulating free T3

A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.


aortic valve atresia

A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure.


Increased factor VIII activity

Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.


Unilateral renal dysplasia

A unilateral form of developmental dysplasia of the kidney.


Myoclonic status epilepticus

A type of motor status epilepticus with repeating bilateral sudden brief (less than 100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography.


Periocular capillary hemangioma

A capillary hemangioma surrounding the eyeball but within the orbit.


Decreased phytanic acid:pristanic acid ratio

A reduction below the normal ratio of blood phytanic acid concentration to pristanic acid concentration.


Acholic stools

Clay colored stools lacking bile pigment.


Partial duplication of the middle phalanx of the 3rd finger

Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx.


Premature epimetaphyseal fusion in fibula

Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.


Aplasia/Hypoplasia of the ovary

Aplasia or developmental hypoplasia of the ovary.


Alpha-EEG

EEG dominated by diffuse alpha-waves (8-13Hz).


Fragmentation of the epiphysis of the distal phalanx of the 5th finger

Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger.


Abnormal systemic blood pressure

A chronic deviation from normal pressure in the systemic arterial system.


Distal muscle weakness

Reduced strength of the musculature of the distal extremities.


Cutaneous horn

A cutaneous horn is a keratinized non-malignant protrusion on the surface of the skin. Diagnosis is established by biopsy of the horn and biopsy of the horn and the underlying skin.


Abnormal nervous system physiology

A functional anomaly of the nervous system.


Glomerular subepithelial immune-complex deposits

A type of glomerular subepithelial deposit characterized by finely granular material deposited between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM and corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).


Abnormal brain positron emission tomography

A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain.


esthesioneuroblastoma

A rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases.


Reduced production of gestures

Diminished use of typical non-verbal conversational gestures such as shaking the head to indicate no or nodding the head to indicate yes.


Keratan sulfate excretion in urine

An increased concentration of keratan sulfate in the urine.


Abnormal vertebral epiphysis morphology

An anomaly of one or more epiphyses of one or more vertebrae.


Insulin receptor antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against the insulin receptor.


Increased CSF lysine concentration

Abnormally increased levels of lysine in cerebrospinal fluid.


Coronary artery sandwich anomaly

Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva, with the additional feature that the artery passes between the two great arteries. This carries a risk of the artery being compressed by these two vessels,


High serum calcitriol

An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.


Part-solid pulmonary nodule

Part-solid pulmonary nodules are nodules that present with both ground-glass and solid components in which the underlying lung architecture cannot be visualized.


Aplasia/Hypoplasia of the nasal septum

Absence or underdevelopment of the nasal septum.


Abnormal leukocyte physiology

A functional abnormality of a white blood cell.


heart sarcoma

A malignant soft tissue neoplasm that arises from the heart. The majority of cases are angiosarcomas.


Transient neutropenia

A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity.


leiomyosarcoma

An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas.


Transient hearing impairment

Hearing loss that occurs acutely and resolves completely.


Right unilambdoid synostosis

Premature synostosis of only the right lambdoid suture.


Broad long bone diaphyses

Increased width of the diaphysis of long bones.


Moderate sensorineural hearing impairment

The presence of a moderate form of sensorineural hearing impairment.


Pretibial dimple

A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lengthen as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg.


Periarticular subcutaneous nodules

Subcutaneous nodules that are located in the vicinity of joints.


Lower extremity joint dislocation

Displacement or malalignment of one or more joints in the lower extremity (leg).


epignathus

Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period.


tertiary hyperparathyroidism

An overproduction of parathyroid hormone that is autonomous and often associated with chronic secondary hyperparathyroidism.


Superior pectus carinatum

Pectus carinatum affecting primarily the superior part of the sternum.


Sparse pubic hair

Reduced number or density of pubic hair.


subcutaneous panniculitis-like T-cell lymphoma

Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue.


Stippling of the epiphysis of the distal phalanx of the 4th toe

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 4th toe.


Abnormal clavicle morphology

Any abnormality of the clavicles (collar bones).


Epiphyseal stippling of the humerus

The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis.


Absent vestibular function

Complete lack of functioning of the vestibular apparatus.


Agenesis of primary mandibular lateral incisor


Abnormality of the epiphysis of the 1st metatarsal

In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the epiphysis of the first metatarsal bone.


Deep dermal perivascular inflammatory infiltrate

Numerous lymphocytes surrounding blood vessels in the deep part of the dermis.


Past medical history

In a medical encounter, the physician generally will interview the patient about his or her current problem, and may perform additional testing. The past medical history (PMH) in contrast records information about the patient's medical, personal and family history that might be relevant to the presenting illness or to provide optimal clinical management. The PMH generally includes (if relevant) other major illnesses, hospitalizations, surgeries, injuries, allergies, gynecologic and obstetric history, family history, personal history including occupational history, alcohol and drug use, etc.


pineal parenchymal cell neoplasm

A neoplasm arising from the pineocyte, a cell with photosensory and neuroendocrine functions. It may be composed of mature elements or primitive, immature cells. The cellular composition determines the biological behavior and clinical outcome. Three types are recognized: pineoblastoma, pineocytoma, and pineal parenchymal tumor of intermediate differentiation (Adapted from WHO.)


Ventricular septal hypertrophy

The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle.


Elevated alkaline phosphatase of bone origin

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


Reduced social insight

A lack of awareness of social rules in multiple social settings, which are simple or intuitive to others in the same social setting.


Pleural plaque

Deposits of hyalinized collagen fibres in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs).


Elevated CSF proline concentration

Concentration of proline in the cerebrospinal fluid (CSF) above the upper limit of normal.


Thyroidization-type tubular atrophy

A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts.


Acellular urinary casts

A type of urinary cast composed of a proteinaceous matrix without a substantial number of cells.


Tubular luminal dilatation

Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen.


Persistent repetition of sounds

Repetition of sounds with no meaning.


Short metatarsal

Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.


Abnormal vena cava physiology

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


Enlarged epiphysis of the middle phalanx of the 4th finger

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


Stenosis of the medullary cavity of the long bones


Abnormal fetal cardiovascular morphology

A structural abnormality of the fetal circulation 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.


Decreased adiponectin level

A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.


Aplasia/Hypoplasia of the cerebral white matter

Absence or underdevelopment of the cerebral white matter.


Triangular epiphysis of the middle phalanx of the 2nd finger


Increased circulating oleate level

An abnormally high concentration of oleic acid (oleate) in the blood circulation.


Anisospondyly

Abnormally increased variability of the size of the vertebral bodies.


Abnormal meniscus morphology

Abnormal structure of the meniscus of the knee, two crescent shape fibrocartilaginous pads that disperse the weight of the body and reduce friction of the knee joint during movement.


Aorto-left ventricular tunnel

Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left or right ventricular cavity.


Increased circulating corticosterone level

An abnormally elevated concentration of corticosterone in the blood.


Abnormality of palatopharyngeus muscle

An abnormality of a palatopharyngeus muscle.


Pulmonary valve atresia

A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop.


Renal tubular epithelial cell cytoplasmic vacuolization

Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size.


Impaired oropharyngeal swallow response

Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars.


Copper beaten skull

Diffuse prominent gyral impressions on the inner table of skull vault said to resemble beaten copper.


EEG with generalized slow activity grade 2

Generalized slowing of EEG activity at frequencies between 4-7 Hz.


Stippling of the epiphysis of the distal phalanx of the 3rd toe

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 3rd toe.


Duplication of the middle phalanx of the 5th finger

Partial or complete duplication of the fifth middle phalanx of hand.


Hallux varus

Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially.


Hyperasparaginemia

An increased amount of asparagine in the blood.


Upper extremity hypokinesia

Abnormally diminished movement of the upper extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.


Abnormal circulating globulin concentration

An abnormal concentration of globulins in the blood. Albumin makes up more than half of the total protein present in serum. The remaining blood proteins except albumin and fibrinogen (which is not in serum) are referred to as globulins. The globulin fraction includes hundreds of serum proteins including carrier proteins, enzymes, complement, and immunoglobulins. Most of these are synthesized in the liver, although the immunoglobulins are synthesized by plasma cells. Globulins are divided into four groups by electrophoresis. The four fractions are alpha1, alpha2, beta and gamma, depending on their migratory pattern between the anode and the cathode.


Hypoplasia of the primary teeth

Developmental hypoplasia of the primary teeth.


Exaggerated cupid's bow

More pronounced paramedian peaks and median notch of the Cupid's bow.


Aplasia/Hypoplasia of the middle phalanx of the 2nd toe


congenital hypothalamic hamartoma syndrome

Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic.


Abnormality of musculature of soft palate

An abnormality of one or more of the five muscles of the soft palate.


Impaired vibration sensation in the lower limbs

A decrease in the ability to perceive vibration in the legs.


Anti-D2 R antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dopamine-2 receptor.


Resistance to trivial environmental changes

Distress in response to minor changes in one's environmental expectations.


Generalized hypotonia

Generalized muscular hypotonia (abnormally low muscle tone).


Anomalous origin of the circumflex artery from the right sinus of Valsalva

The circumflex coronary artery originates from the right aortic sinus of Valsalva.


Aplasia/Hypoplasia of the spleen

Absence or underdevelopment of the spleen.


Compression-fractured thoracic vertebra

A fracture of the thoracic vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.


primary ovarian failure

Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries.


Low urinary cyclic AMP response to PTH administration


Dilation of Virchow-Robin spaces

Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery.


Abnormal hypothalamus physiology

An abnormal functionality of the hypothalamus.


Elevated circulating suberic acid concentration

An increased concentration of suberic acid in the blood circulation. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane.


Abnormality of the pancreatic islet cells

An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin.


Stippling of the epiphysis of the middle phalanx of the 4th toe

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 4th toe.


internal carotid arteries, hypoplasia of


pilomatrixoma

Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome.


Restricted or repetitive behaviors or interests

A broad range of compulsive behaviors are repeated, including simple motor stereotypies and tics, as well as more complex repetitive movements or compulsions.


Impaired distal tactile sensation

A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.


Absent epiphyses of the 3rd finger

Absence of the epiphyses of the 3rd finger.


Abnormal urine chloride concentration

An abnormal concentration of chloride in the urine.


Poorly ossified vertebrae

Decreased ossification of the vertebral bodies.


Abnormal astrocyte morphology

An abnormality of astrocytes.


Elevated circulating arabitol concentration

Concentration of arabitol in the blood circulation above the upper limit of normal.


Bilingual aphasia

The term bilingual aphasia is used to refer to aphasia in persons who speak two or more languages. When a multilingual speaker has aphasia following a stroke, the languages spoken premorbidly may show comparable or differential patterns of impairment. Differential patterns may manifest as greater impairment in one language compared to another, or as differences in the characteristics of aphasia. Clinical reports of bilingual aphasia show dissociations in the processing of the language learned first (L1) and and second (L2), with one language more impaired than the other. Other cases show a pattern of differential recovery where L2 is recovered only after L1. Another pattern is alternating antagonism; i.e., patients access one language in spontaneous speech and inhibit the other language for alternating periods. This term should be used for a type of aphasia in a person who speaks multiple languages in which the impairment is different for different languages.


Impaired convulxin-induced platelet aggregation

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


Cavitating pulmonary nodule

Thick-walled abnormal gas-filled interstitial nodule within a lung.


Forearm pronation contracture

A contracture that limits the ability of the forearm to stabilize the hand in supiation (supination refers to a rotation of the forearm that causes the palm and forearm to face upwards), meaning that the palm is fixed in a downward orientation. Restriction of supination/pronation can occur at the elbow (radial-humeral joint), at the wrist (radial-ulnar joint), and anywhere in between.


Contracture of the tarsometatarsal joint of the hallux

Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc's joints.


Systolic heart murmur

A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2.


EEG with frontal sharp slow waves

EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.


Peripheral neuroepithelioma

A neuroblastoma arising from the peripheral nervous system.


Hyperpolarized transepithelial nasal potential difference

Increased (more negative) voltage across the nasal epithelium.


Dysgyria with normal cortical thickness

An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation but with a normal thickness of the cortex.


2-5 finger syndactyly

Syndactyly with fusion of fingers two to five.


Neonatal electro-clinical clonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups; it can be symmetric or asymmetric.


Ragged cuticle

The cuticle (properly known as the eponychium, or the medial nail fold or the proximal nail fold), is the thickened layer of skin surrounding fingernails and toenails. Its function is to protect the area between the nail and epidermis from exposure to bacteria. This term refers to the presence of and irregular edge or outline of the cuticle.


Severe cytomegalovirus infection

An unusually severe infection by cytomegalovirus.


Shagreen patch

A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled. The word shagreen refers to a type of roughened untanned leather.


Abnormal circulating creatine kinase concentration

Any deviation from the normal circulating creatine kinase concentration.


Long toe

Toes that appear disproportionately long compared to the foot.


Asymmetry of the ears

An asymmetriy, i.e., difference in size, shape or position between the left and right ear.


Non-secretory adrenocortical adenoma

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


Orthokeratosis

Formation of an anuclear keratin layer


Altered location of the longitudinal column in the fibrous sheath

The fibrous sheath is a structure in the midpiece of the sperm flagellum surrounding the outer dense fibers. It comprises two longitudinal columns and tranverse ribs. In case of altered location of the longitudinal column in the fibrous sheath the symmetrical structure is lost, most commonly with the columns not being opposite to each other, which can be visualised by electron microscopy.


Subluxation of metacarpal phalangeal joints

A partial dislocation affecting some or all of the metacarpophalangeal joints.


Vertebral artery tortuosity

Abnormal tortuous (i.e., twisted) form of the vertebral arteries.


Abnormal urinary pyrimidine level

Any deviation from the normal amount of a pyrimidine compound in the urine. Pyrimidines and pyrimidine derivatives are compounds containing a pyrimidne ring, which is a six-member aromatic heterocycle which consists of two nitrogen atoms (at positions 1 and 3) and four carbon atoms. The nucleotides cytosine, thymine and uracil are pyrimidines.


Increased density of long bone diaphyses


Spina bifida occulta at L5

The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin.


Abnormality of the fifth metatarsal bone

An anomaly of the fifth metatarsal bone.


Purulent drainage from Stensen duct

Flow of pus (purulence) from the Stensen duct. The Stensen duct is also known as the parotid duct and is the route that saliva takes from the major salivary gland (parotid gland) to the mouth.


Intratubular erythrocyte cast

Casts that contain red blood cells and are located within the tubuli of the kidney.


Duplication of phalanx of 4th finger

This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.


Trichilemmoma

A benign tumor originating from the outer root sheath of the hair follicle.


Parathyroid dysgenesis

Abnormal embryonic development of the parathyroid gland.


Dental malocclusion

Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.


Ivory epiphysis of the middle phalanx of the 3rd finger

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


Renal arteriole intimal/medial multilamellation

Myointimal hyperplasia arranged in multiple concentric layers in the inner or middle layer of the arterioles of the kidney.


Abnormal ventricular septum morphology

A structural abnormality of the interventricular septum.


Irregular epiphysis of the 1st metacarpal

Uneven radiographic opacity of the epiphysis of the 1st metacarpal.


Fusion of middle ear ossicles

Bony fusion of malleus, incus, and stapes.


Ivory epiphysis of the middle phalanx of the 3rd toe


Poor wound healing

A reduced ability to heal cutaneous wounds.


Elevated urinary 3-methylcrotonylglycine level

An abnormally increased amount of 3-methylcrotonylglycine in the urine.


Hypopigmented macule

A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation.


Abnormal response to ACTH stimulation test

An anomolous response to stimulation by adminstration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline.


Sclerosis of finger phalanx

An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Decreased CSF copper concentration

Concentration of copper in the cerebrospinal fluid (CSF) below the lower limit of normal.


Congenital conductive hearing impairment

A type of conductive deafness with congenital onset.


Limited pointing

Absence or reduction in the use of pointing to request or direct another's attention.


Sleep onset rapid eye movement period

Entering REM sleep immediately upon falling asleep.


Piezogenic pedal papules

Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum.


Dermal papillary IgA deposition

Accumulation of immunoglobulin A (IgA) surrounding dermal papillae, which are specialized cells that support the hair follicle.


hyperekplexia

A neurologic disorder classically characterized by pronounced startle responses to tactile or acoustic stimuli and hypertonia


Fecolith

A mass of accumulated hardened fecal matter.


Distal/middle symphalangism of 4th finger

Fusion of the terminal/distal and middle phalanges of the 4th finger.


isolated oxycephaly

Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull.


Abnormality of the humerus

An abnormality of the humerus (i.e., upper arm bone).


Intrahepatic bile duct dilatation

Increased diameter (caliber) of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts).


Suprasellar arachnoid cyst

An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards.


Increased pineal volume

An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland.


Filum terminale lipoma

Filum terminale lipomas (FTLs) are a type of lumbosacral lipoma in which the fat is entirely within the filum terminale and separate from the conus medullaris.


Opacified paranasal sinuses

White appearance (radio-opaqueness) of a paranasal sinus on radiography.


mucocele of salivary gland

A benign cyst located in the salivary gland that is lined by epithelium and filled with mucoid fluid, tissue, or other material; it is usually caused by duct obstruction.


Osteosclerosis of the base of the skull

An increase in bone density affecting the basicranium (base of the skull).


Cavitating leukodystrophy

A type of leukodystrophy characterized by multiple small cavitations typically in the periventricular and deep cerebral white matter. The cavitations are visible as a central cavity with cerebrospinal fluid-like signal intensity.


Rouleaux formation

Increased amount of stacking of erythrocytes into long chains. Rouleaux (singular: rouleau) is derived from a French word that can refer to a stack of coins put into a cylindircal paper roll. Rouleaux formation is observed with increased serum proteins, particularly fibrinogen and globulins, and represents the cause of increased erythrocte sedimentation rate because rouleaux sediment more readily than isolated red blood cells.


Focal aware sensory seizure with auditory features

A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure.


Cardiomyocyte hyaline bodies

Subsarcolemmal, eosinophilic glass-like regions within the cytoplasm of cardiomyocytes.


EEG with diffuse acceleration

EEG frequency is abnormally increased.


Abnormal proportion of CD4+ effector memory cells

An abnormal proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.


Abnormality of the musculature of the hand


Dysgenesis of the thalamus

Structural abnormality of the thalamus related to defective development.


Abnormal placental adhesion into the uterine wall

Abnormal placental adhesion is characterized by an anomalous adherence of the placenta to the uterine wall. Based on the degree of adhesion, placental invasion can be classified into accreta, increta, or percreta.


Short phalanx of the 4th toe

Developmental hypoplasia of one or more phalanx of fourth toe.


Ventouse delivery

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


Hypersegmentation of neutrophil nuclei

An excessive division of the lobes of the nucleus of a neutrophil.


thumbs, congenital Clasped

In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.


Focal impaired awareness emotional seizure with pleasure

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


Fusiform ascending tubular aorta aneurysm

A concentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves the full circumference of the vessel wall.


Broad chin

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


Fragmentation of the epiphysis of the 1st metatarsal


Abnormal experience of reality

Subjective phenomena or perceptions that deviate from what is considered correct or are outside the range of normal human experiences.


Aplasia/Hypoplasia of the middle phalanx of the 4th toe


Abnormal urine magnesium concentration

An abnormal concentration of magnesium the urine.


Perifolliculitis

Inflammation surrounding hair follicles.


Thin corpus callosum

An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).


Avoidance of stimuli associated with traumatic event

Avoidance of or efforts to avoid distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s). Avoidance of or efforts to avoid external reminders (people, places, conversations, activities, objects, situations) that arouse distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s).


Absent posterior alpha rhythm

Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above.


Abnormal circulating polysaccharide concentration

A deviation from the normal concentration of a polysaccharide in the blood circulation.


Predominantly lower limb lymphedema

Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs.


Two-raphe bicuspid aortic valve

A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis.


Anti-Ma2 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma2.


Venous malformation of the lip

A vascular malformation located in the lip that is related to abnormal vascular morphogenesis.


Aortic smooth muscle cell nuclei loss

A region of the aortic media in which smooth muscle cell nuclei, involving multiple lamellae, are not clearly identifiable on an hematoxylin and eosin stain.


Increased C-peptide level

An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion.


Abnormal renal calyx morphology

Any abnormality of the morphology of the major calices or minor calices of the kidney.


Symphalangism affecting the middle phalanx of the 4th toe


Protuberant abdomen

A thrusting or bulging out of the abdomen.


Abnormality of fontanelles

An abnormality of the fontanelle.


Argininuria

A increased concentration of arginine in the urine.


Abnormality of the nasal cavity

Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures).


Abnormal renal tubular epithelial morphology

Any structural anomaly of the renal tubular epithelial cells (RTEC), a layer of cells in the outer layer of the renal tubule. These cells play a role in the absorption of substances such as glucose and amino from the primary urine.


Total absence of the pericardium

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


gastroschisis

Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated.


Abnormal cortical radial artery lumen morphology

Abnormal structural characteristics of the interior space of the cortical radial arteries of the kidney.


Focal cortical dysplasia type I

A type of focal cortical dysplasia that is characterized by abnormal cortical layering.


Hand apraxia

Inability to perform purposeful (learned) movements with the hand upon command, even though the command is understood and there is a willingness to perform the movement. Hand apraxia includes the inability to grasp, pick up, and hold large and small objects.


Patchy sclerosis of distal phalanx of finger

Uneven (irregular) increase in bone density of the distal phalanges of the hand.


Abnormal inferior alveolar artery morphology

An abnormality of an inferior alveolar artery.


Decreased urinary hypoxanthine level

The concentration of hypoxanthine in the urine, normalized for urine concentration, is below the lower limit of normal.


Premature sternal synostosis

Prematurely closed sternal sutures.


Progressive gait ataxia

A type of gait ataxia displaying progression of clinical severity.


Abnormal central sensory function

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


Chiari malformation

A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus.


hypoplastic right heart syndrome

Hypoplastic right-heart syndrome (HRHS) is a rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type. Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia.


bidirectional tachycardia

Bidirectional ventricular tachycardia (BDVT) is a regular ventricular tachyarrhythmia (VT) with two different QRS morphologies alternating at a rate typically between 140 and 180 bpm.


Abnormality of humoral immunity

An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system.


Hypotryptophanemia

A decreased amount of tryptophan in the blood.


Yellow nodule

A type of skin nodule (a lesions that is greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat) with a yellowish coloration (that reflects a high lipid content of the lesion).


Chronic partially decreased circulating IgG2

A lasting limited decrease of immunoglobulin G2 (IgG2) in the blood.


Elevated urine arabitol level

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


Aplasia of the middle phalanx of the 4th toe


Congenital alopecia totalis

Loss of all scalp hair with congenital onset.


Insulin-dependent but ketosis-resistant diabetes

Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin.


Vascular tortuosity

Abnormal twisting of arteries or veins.


Fractured left clavicle

A partial or complete breakage of the left clavicle.


Positive urine infectious agent nucleid acid test

Detection of DNA and RNA originating from an infectious agent (bacteria, viruses, parasites and fungi) in the urine.


Abnormal spinal dura mater morphology

An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord.


Irregular patellae

An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour.


Abnormal circulating biopterin concentration

A deviation from the normal concentration of biopterin in the blood circulation.


Ileoileal intussusception

A type of intussusception of the small intestine in which one part of the ileum invaginates (telescopes) into another part of the ileum.


Ureter duplex

A complete duplication of the ureter, where the duplicated ureters have separate insertions into the bladder.


craniosynostosis 4

Any craniosynostosis in which the cause of the disease is a mutation in the ERF gene.


Short ear

Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear.


Ivory epiphysis of the 1st metatarsal

The epiphysis of the 1st metatarsal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs.


Gingival calcification

Ectopic deposition of calcium salts found in the gingiva.


Osgood-Schlatter disease

Osteochondrosis of the growth plate near the tibial tuberosity.


Proximal femoral metaphyseal irregularity

Irregularity of the normally smooth surface of the proximal metaphysis of the femur.


Disc kidney

A type of cross fused renal ectopia in which kidneys fuse along their medial borders.


Abnormal B-type natriuretic peptide concentration

A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP).


Short lingual frenulum

The presence of an abnormally short lingual frenulum.


Frank breech presentation

A kind of breech presentation in which the hips are flexed and the knees are extended.


Ankle joint effusion

Abnormal accumulation of fluid in or around the ankle joint.


chondroblastoma

A benign, chondroid-producing, well-circumscribed, lytic neoplasm usually arising from the epiphysis of long bones. It is characterized by the presence of chondroblasts, osteoclast-like giant cells, chondroid formation, calcification, and mitotic activity. In aggressive cases, there is rearrangement of the 8q21 chromosome band. It occurs most frequently in children and young adults and rarely metastasizes.


Absent distal phalanges

Aplasia (absence) of the distal phalanges.


Absent lunula

Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail.


Grade III vesicoureteral reflux

Vesicoureteral reflux with dilatation of the collecting system.


Hilar lymph node enlargement

Hilar lymphadenopathy is swelling or enlargement of lymph nodes localised in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral).


Anti-TRIM9/TRIM67 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against TRIM9/TRIM67.


Hypobilirubinemia

Concentration of bilirubin in the blood circulation below the lower limit of normal.


Triangular epiphysis of the distal phalanx of the 2nd finger

A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.


Visually-induced seizure

Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect.


Delayed cranial suture closure

Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.


Idiosyncratic language

Consistent use of an unusual way of referring to something that is idiosyncratic to the individual.


Lamina lucida cleavage

The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin.


Increased adipose tissue

An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell).


Fetal lung hyperechogenicity

Increased response (echo) of lung tissue of a fetus observed on prenatal sonography. Increased echo response is conventially displayed as a higher degree of brightness.


Agenesis of primary maxillary lateral incisor

Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor.


Focal necrotic brainstem lesion

A localized area of cell death, often accompanied by infiltration of inflammatory cells, in the brainstem.


Elevated circulating 1-methylhistidine concentration

An abnormally increased level of 1-methylhistidine in the blood circulation. 1-methylhistidine is a derivative of L-histidine.


Crowded maxillary incisors

A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor.


Clinodactyly of the 2nd toe

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


Multifocal epileptiform discharges

An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci).


nasopharyngeal teratoma

A teratoma that involves the nasopharynx.


Reduced co-speech gestures

Reduced use of speech-integrated gestures such as the use of beat gestures.


Costochondral pain

Chest wall pain in the area of the costochondral junctions.


Cortical myoclonus

Cortical myoclonus mainly affects the distal upper limbs and face, which reflects the largest cortical representations of these body areas. It is often focal, but may be multifocal, bilateral or generalized, as a consequence of intracortical and transcallosal spreading of abnormal activity. It typically occurs on voluntary action and may affect speech and gait. Cortical myoclonic jerks are stimulus sensitive, typically to touch, but sensitivity to visual stimuli is also described. Most patients with cortical myoclonus have both positive myoclonus and NM, occurring either independently or together as a complex of the two kinds of myoclonus. If cortical myoclonus is prolonged and lasts for hours, days or weeks, it is called epilepsia partials continua and is considered to be a rare form of focal epileptic status. Focal cortical myoclonus almost always points to an underlining lesion of the sensori-motor cortex, which produces hyperexcitability (e.g. vascular, inflammatory or neoplastic).


Hypoplastic vertebral pedicle

Underdeveloped vertebral pedicle.


Duplicated odontoid process

The presence of two distinct odontoid processes. The odontoid process, also known as the dens of the axis, is a protuberance of the C2 vertebral body around which the first vertebra rotates.


Atoll sign

CT finding of central ground-glass opacity surrounded by denser consolidation of crescentic shape (forming more than three-fourths of a circle) or complete ring of at least 2 mm in thickness. A rare sign, it was initially reported to be specific for cryptogenic organizing pneumonia, but was subsequently described in patients with paracoccidioidomycosis.


Osteolytic defects of the middle phalanx of the 5th finger

Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger.


Anti-phosphatidyl inositol antibody positivity

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


Whistling appearance

An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling.


Irreversible airflow obstruction

Airflow obstruction without significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL.


Distal femoral metaphyseal irregularity

Irregularity of the normally smooth surface of the distal metaphysis of the femur.


Glenoid fracture

A fracture of the glenoid fossa, a relatively shallow dish is located on the lateral scapula and is the socket portion of the shoulder joint that meets to articulate the humeral head.


Abnormal oral physiology

A functional anomaly of the mouth (which is also known as the oral cavity).


Caseous vernix-like desquamation

Vernix caseosa is a physiological, viscous biofilm that is produced by desquamated fetal skin and sebaceous glands covering the fetus at the third trimester in-utero. The substance's gross morphology in post-partum is described by the etymology, as vernix means varnish, and caseosa means cheesy-like matter. This finding refers to an abnormally thick and greasy vernix caseosa-like scale present at birth.


Focal aware hemiclonic seizure

A focal hemiclonic seizure in which awareness is retained throughout.


Pre-capillary pulmonary hypertension

Pre-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg).


Prominent tragus

Increase posterolateral protrusion of the tragus.


Acroparesthesia

A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes.


presbycusis

Bilateral hearing loss caused by progressive degeneration of cochlear structures and central auditory pathways, typically associated with the aging process.


Absent peripheral lymph nodes in presence of infection

The absence of any palpable lymph nodes in the presence of symptoms suggesting infection in that drainage area should raise suspicion for immunodeficiency diseases.


Partial duplication of the middle phalanx of the 2nd toe

Partial duplication of middle phalanx of second toe.


Neutrophil inclusion bodies

The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies.


Osteoarthritis of the first carpometacarpal joint


Thickened ears

Increased thickness of the external ear.


Dark cerumen

Abnormally dark color of cerumen (earwax), which is a waxy substance secreted in the ear canal that normally has a brown, orange, red, yellowish or gray.


Type III truncus arteriosus

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


Tortuous lymphatic vessels

The presence of an increased number of twists and turns of lymphatic vessels.


Elevated circulating S-adenosyl methionine concentration

Concentration of S-adenosyl methionine (SAM) in the blood circulation above the upper limit of normal. SAM is a cosubstrate involved in methyl group transfers, transsulfuration, and aminopropylation.


Fractured thoracic vertebra

A partial or complete breakage of the thoracic vertebra.


Rib exostoses

Multiple circumscribed bony excrescences located in the ribs.


Patchy sclerosis of the 1st metacarpal

Uneven increase in bone density within the 1st metacarpal.


Focal impaired awareness cognitive seizure with anomia

A focal cognitive seizure with anomia characterized by impairment of awareness at some point during the seizure.


Curved dental root

A root of a tooth that is more rounded than normal.


Metaphyseal widening

Abnormal widening of the metaphyseal regions of long bones.


Partial duplication of the phalanges of the 4th finger

A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 4th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.


Abnormality of the phalanges of the 3rd toe


Steep acetabular roof

An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance.


nevus of Ota

Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus.


Respiratory failure requiring assisted ventilation

A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation.


Prominent fingertip pads

A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist.


Ectopic ossification in muscle tissue

Formation of abnormal bony tissue within muscle tissue.


Broad inferior crus of antihelix

Increased width of the inferred cross-section of the inferior crus.


cervix endometriosis

Endometriosis that affects the cervix. Most patients are asymptomatic. Some patients may present with recurrent minimal uterine bleeding.


Hyperserinemia

An increased amount of serine in the blood.


oligodendroglioma

A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO)


Elevated urinary N-butyrylglycine

An increased level of N-butyrylglycine in the urine.


Combined cystic and ground-glass pattern on pulmonary HRCT

Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography,


Abnormality of the epiphysis of the middle phalanx of the 4th toe


Abnormal affect

Abnormalities in the intensity, frequency, or duration of observable and expressed emotions.


Wide cranial sutures

An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure).


Cerebral white matter atrophy

The presence of atrophy (wasting) of the cerebral white matter.


Upper limb asymmetry

Difference in length or size between the right and left arm.


Hypnopompic sleep paralysis

Sleep paralysis that occurs when waking up from sleep.


Villous atrophy

The enteric villi are atrophic or absent.


Sclerosis of middle finger phalanx

An elevation in bone density in one or more middle phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Abnormal platelet shape

A deviation from the normal discoid platelet shape.


Positive Phalen test

The Phalen maneuver is performed by having the patient hold both wrists in complete and forced flexion (pushing the dorsal surfaces of both hands together) for 30-60 seconds. This can increase the pressure in the carpal tunnel. The test is positive (abnormal) if the patient experiences characteristic symptoms of carpal tunnel syndrome (pain and paresthesias along the distribution of the median nerve, i.e., thumb, index finger, and middle finger).


Proximal femoral focal deficiency

Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb.


Osteolysis of talus

Osteolysis affecting the talus.


macrodactyly of fingers

A type of Macrodactyly affecting one or several fingers.


Decreased circulating IgG2 level

A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation.


Wide pubic symphysis

Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones.


Widened interpedicular distance

An increase in the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.