Thin vermilion border

Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).


Stahl ear

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

The presence of a supernumerary, i.e. third, crus of the helix in the helix, arising at or above the normal bifurcation of the antihelix.


Pancreatic alpha-cell hyperplasia

A diffuse and specific increase in the number of alpha-cells.


Complete duplication of the middle phalanx of the 5th toe.


Anti-GD1a IgM antibody positivity

The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a.


Abnormal perifollicular morphology

Any structural anomaly in the areas surrounding the hair follicles.


Decreased circulating globulin level

An abnormally reduced concentration of globulins in the blood.


Abnormal renal arteriole endothelium morphology

Any structural anomaly of the lining (endothelium) of the arterioles of the kidney.


Median cleft lip

A type of cleft lip presenting as a midline (median) gap in the upper lip.


Aplasia/hypoplasia involving bones of the extremities


Barrel-shaped tooth

A tooth crown with convex mesial and distal surfaces.


Abnormal 2nd metacarpal morphology

Any abnormality of the second metacarpal bone.


Abnormal fetal genitourinary system morphology

An anomalous structural finding of the fetal genitourinary 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.


Fused labia majora

The outer labia are sealed together.


Coxa valga

Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).


Abnormal appendicular skeleton morphology

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


Increased circulating apolipoprotein circulation

Elevated concentration in the blood circulation of a lipid-transport protein (apoliprotein).


Dilatation of the renal pelvis

The presence of dilatation of the renal pelvis.


Episodic metabolic acidosis

Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids.


The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles.


Focal aware cognitive seizure with hallucination

A focal cognitive seizure with hallucination characterized by retained awareness throughout the seizure.


Abnormality of connective tissue

Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).


EEG with parietal sharp waves

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


Secondary hyperaldosteronism

A form of hyperaldosteronism caused by abnormally increased renin levels.


Left anterior fascicular block

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


Status epilepticus with ictal paresis

A type of focal motor status epilepticus characterized by prolonged ictal paresis or inhibitory motor seizures.


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

X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.


Coarse hair

Hair shafts are rough in texture.


Chronic fatigue

Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer.


Disproportionate short-limb short stature

A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.


Aplasia/Hypoplasia of the phalanges of the 2nd finger


Noncompaction cardiomyopathy that affects both ventricles.


Oral motor hypotonia

Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior.


Triangular epiphysis of the proximal phalanx of the 2nd toe


Complete duplication of the middle phalanges of the hand

A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism.


Focal aware sensory seizure

A focal sensory seizure during which awareness is retained throughout the seizure.


Dysgyria

An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation.


Reduced eye contact

A reduced frequency or duration of eye contact.


neuroepithelial neoplasm

A neoplasm of the nervous system that arises from the neuroepithelial tissues. Representative examples include astrocytic tumors, oligodendroglial tumors, ependymal tumors, and primitive neuroectodermal tumors.


Gluten intolerance

A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease.


Abnormal CSF aromatic amino acid concentration

Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid.


Partial duplication of the middle phalanx of the 5th toe.


Lipid-laden macrophages in bronchoalveolar fluid

Accumulation of lipids in alveolar macrophages with droplet-shaped fat inclusions.


normal pressure hydrocephalus

A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)


Absence of the reflex of the tensor tympani muscle


Pyriform aperture stenosis

Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose.


Talipes valgus

Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot.


Progressive conductive hearing impairment

A progressive type of conductive deafness.


Abnormal red nucleus morphology

Any structural anomaly of the red nucleus, a part of the midbrain involved in control of movement.


Abnormality of the peripheral nervous system

Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.


Adrenal xanthomatosis

Lipid deposits localized within the adrenal gland. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.


Steroid-sensitive nephrotic syndrome with frequent relapses

A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period.


Focal impaired awareness seizure

Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.


Isolated systolic hypertension

Elevated systolic blood pressure without an elevated blood pressure.


Increased pituitary glycoprotein hormone alpha subunit level

An increased concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones.


Hyperplastic labia majora

Overgrowth of the outer labia.


endocardial fibroelastosis

Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia.


Triangular epiphysis of the distal phalanx of the 4th toe


Intellectual disability, mild

Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.


Aplasia of the 3rd finger

Absent 3rd finger.


Narrow mouth

Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).


Recurrent meningitis

An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis.


Short-segment aganglionic megacolon

A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid.


Secundum atrial septal defect

A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.


Triangular shaped thumb phalanx

Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle.


Recurrent aspiration pneumonia

Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia.


vibratory urticaria

This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful.


Elevated functional residual capacity

An abnormal increase in the volume remaining in the lungs after a normal, passive exhalation.


Loss of ambulation

Inability to walk in a person who previous had the ability to walk.


Long palm

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


Reversible renal failure

Acute renal failure with resolution of manifestations.


Abnormality of intrinsic muscle of tongue

An abnormality of an intrinsic muscle of tongue.


Fetal posterior fossa hemorrhage

A type of fetal intracranial hemorrhage that occurs in the posterior cranial fossa, which is the part of the cranial cavity that is located between the foramen magnum and tentorium cerebelli and contains the brainstem and cerebellum.


Subcutaneous ossification

Formation of abnormal, extraskeletal bony tissue in the soft tissue beneath the skin. Subcutaneous ossifications may be observed by radiography or by palpation.


Focal autonomic seizure with piloerection

A type of focal autonomic seizure characterized by piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) as the initial semiological feature.


fasciitis

Inflammation process in fascia.


Curved distal phalanx of the thumb

A deviation from the normal straight shape of the distal phalanx of the thumb.


Increased anti-dairy protein IgE antibody level

Increased level of IgE antibody against dairy proteins, including casein, alpha-lactalbumin, beta-lactoglobulin or bovine serum albumin contained in cow, sheep or goat milk and milk products.


High-frequency sensorineural hearing impairment

A form of sensorineural hearing impairment that affects primarily the higher frequencies.


bifid uvula

Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.


Spastic dysarthria

A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality.


Premature graying of hair

Development of gray hair at a younger than normal age.


Short columella

Reduced distance from the anterior border of the naris to the subnasale.


Oval macrocytosis

Enlarged, oval-shaped erythrocytes (red blood cells).


Clavicular pseudarthrosis

A developmental defect in a the clavicule leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or false joint).


Mycobacterium abscessus abscessus infection

Mycobacterium abscessus complex comprises a group of rapidly growing, multidrug-resistant, nontuberculous mycobacteria that are responsible for a wide spectrum of skin and soft tissue diseases, central nervous system infections, bacteremia, and ocular and other infections.


Absent cupid's bow

Lack of paramedian peaks and median notch of the upper lip vermilion.


Cervical neoplasm

A tumor (abnormal growth of tissue) of the uterine cervix.


Abnormal natural killer cell count

Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes.


Dilatation of superior mesenteric artery

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


Abnormal 3rd finger phalanx morphology

Abnormality of the phalanges of the 3rd (middle) finger.


Focal aware sensory seizure with visual features

A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis.


Chronic decreased cirulating IgG2

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


Generalized-onset seizure

A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.


Low alkaline phosphatase of hepatic origin

An abnormally reduced level of liver isoforms of alkaline phosphatase in the blood.


Anterior hypopituitarism

A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.


Unilateral renal hypoplasia

One sided hypoplasia of the kidney.


Decreased erythrocyte sedimentation rate

A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling.


tooth agenesis

A rare developmental dental anomaly in humans characterized by the absence of six or more teeth.


Streak ovary

A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cytosolic-5-nucleotidase-1A (cN1A).


Reduced blood urea nitrogen

An abnormally low concentration of urea nitrogen in the blood.


Speech apraxia

A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.


Elevated circulating beta-aminoisobutyric acid concentration

An increased concentration of beta-aminoisobutyric acid in the blood circulation.


Facial capillary hemangioma

Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face.


Increased circulating ethanolamine concentration

Abnormally increased levels of ethanolamine in circulation.


Persistent lactic acidosis

A continuous form of lactic acidemia.


Increased blood pressure

Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension.


Triangular shaped distal phalanx of the 5th finger

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


Vaginal clear cell adenocarcinoma

A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm.


Abnormal CSF homovanillic acid concentration

Any deviation from the normal concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.


congenital factor XI deficiency

Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.


Calcified ovarian cyst

A cyst of the ovary that exhibits deposition of calcium salts.


Dilated superficial abdominal veins

Increase in diameter of the veins located underneath the skin of the abdomen.


Ectopic liver

Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter.


Abnormal presence of ultra-large von Willebrand factor multimers

Detection of abnormal ultra-large von Willebrand factor multimers.


Medial/intimal arcuate venosclerosis

Thickening of the intima with fibrosis and/or duplication of the elastic lamina in arcuate veins.


Small epiphysis of the proximal phalanx of the 5th toe


Bilateral vertebral artery hypoplasia

Underdevelopment of the vertebral artery on both sides.


Fractured metacarpophalangeal joint

A partial or complete breakage of the metacarpophalangeal joint.


Hypothalamic arteriovenous malformation

An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the hypothalamus.


chronic leukemia

A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia.


Mixed respiratory and metabolic acidosis


Decreased proportion of plasmablasts

A reduction below the normal proportion of plasmablasts in circulation relative to total number of B cells.


Aplasia/hypoplasia involving bones of the lower limbs

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


Intralobular interstitial thickening

A fine reticular pattern on high-resolution computed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance.


Increased CSF homocarnosine concentration

Abnormally increased levels of homocarnosine in cerebrospinal fluid.


ichthyosis

Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies.


Reduced growth-hormone binding protein level

A decreased blood concentration of growth hormone binding protein.


Pulmonary arterial hypertension with lack of acute response to NO challenge

A form of pulmonary arterial hypertension with lack of adequate hemodynamic response to NO challenge (adequate response is defined as a reduction of mean pulmonary artery pressure (mPAP) of at least 10 mmHg to reach an absolute value of mPAP 40 mmHg or less with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm).


Carpal osteolysis

Osteolysis affecting carpal bones.


Finger symphalangism

An abnormal union between bones or parts of bones of the fingers. The synonymous term "symphalangism of the hand" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as "Symphalangism" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as "bony" Syndactyly.


Declarative memory loss

Impaired ability to remember facts and events.


Gustatory sensory seeking

Pursuit of a particular taste that is abnormal in intensity and/or frequency.


Anti-Ri antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ri, an antineuronal antibody.


Decreased circulating apolipoprotein A-I concentration

Concentration of apolipoprotein A-I below the lower limit of normal. Apolipoprotein A-I is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease.


Pendulous urethral stricture

A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa.


Cone-shaped epiphyses of the middle phalanges of the hand


Triangular shaped distal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Small epiphysis of the middle phalanx of the 4th finger

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


Increased CSF interferon alpha

Increased concentration of interferon alpha in the cerebrospinal fluid (CSF).


Dorsal subluxation of ulna

Partial dislocation of the ulna in the dorsal direction.


Supernumerary ribs

The presence of more than 12 rib pairs.


Slender distal phalanx of finger

Reduced diameter of the distal phalanx of finger.


Vacuolated lymphocytes

The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm.


Fragmentation of the epiphysis of the middle phalanx of the 5th toe


Acanthocytosis

Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.


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


Abnormality of infra-orbital nerve

A structural abnormality of an infra-orbital nerve. The infraorbital nerve arises from the maxillary branch of the trigeminal nerve and normally traverses the orbital floor in the infraorbital canal.


Mottled pigmentation of photoexposed areas


Supernumerary pulmonary fissure

Presence of a lung fissure that does not exist normally. Supernumerary fissures include the superior accessory fissure, the medial basal fissure, the left horizontal fissure, and the azygos fissure form supernumerary lobes.


Focal hyperintensity of cerebral white matter on MRI

An abnormal area of increased brightness (hyperintensity) that is limited to one particular area.


Absent skin pigmentation

Lack of skin pigmentation (coloring).


Cock-walk gait

An abnormality of gait that can be observed in individuals with dystonic posture in which the individual walks with an extended trunk and flexed arms, while strutting on the toes without the heels touching the floor.


Stooped posture

A habitual positioning of the body with the head and upper back bent forward.


Specific anosmia

Anosmia for one particular odor.


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

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


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


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 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.


hereditary fructose intolerance

Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.


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.


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.


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.


Abnormal nasal bridge morphology

Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi.


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.


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.


Long umbilical cord

Increased length of the umbilical cord.


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.


digestive system neoplasm

A neoplasm (disease) that involves the digestive system.


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.


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.


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.


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).


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.


Soft tissue swelling of interphalangeal joints


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.


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.


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 hallucinations

Fleeting perceptual experiences that occur during the transition from sleep to wakefulness.


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.


Reduced impulse control

Reduced ability to control, or a failure to resist a temptation, urge, or impulse.


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.


Overhanging nasal tip

Positioning of the nasal tip inferior to the nasal base.


Increased circulating band cell count

An abnormally increased number of band cells in the peripheral blood circulation. 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 seconday 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.


Bilious emesis

Vomiting whereby the vomit has the color of bile, yellowish-green.


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.


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.


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.


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.


Male sexual dysfunction

A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity


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.


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 (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis.


Increased renal tubular phosphate reabsorption


Hyperalbuminemia

Elevation in the concentration of albumin in the blood.


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.


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.


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.


Decreased methionine synthase activity

A reduction in methionine synthase activity.


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.


Neck muscle weakness

Decreased strength of the neck musculature.


Elevated circulating reverse T3 concentration

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


Anti-PM-Scl75 antibody positivity

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


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.


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.


tumor of uterus

A neoplasm (disease) that involves the uterus.


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).


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.


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.


Abnormal circulating metabolite concentration

An abnormal level of an analyte measured in the blood.


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.


Intralobar sequestration

A kind of bronchopulmonary sequestration that is incorporated into the normal surrounding lung.


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).


arteritis

An inflammatory process affecting an artery.


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.


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.


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.


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 lenghten 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

A form of T-cell non-Hodgkin lymphoma in which cytotoxic CD8+ T cells infiltrate adipose tissue forming subcutaneous nodules.


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


Ventricular septal hypertrophy

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


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.)


omphalocele

Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.


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.


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.


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.


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.


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.


Low back pain

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back.


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.


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.


Livedo

A reddish-blue mottled condition of skin caused by inflammation of the cutaneous blood vessels.


Abnormal hypothalamus physiology

An abnormal functionality of the hypothalamus.


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


Restricted or repetitive behaviors or interests

A broad range of compulsive behaviors that 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 astrocyte morphology

An abnormality of astrocytes.


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.


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 primitive neuroectodermal tumor

A small round cell tumor with neural differentiation arising from the soft tissues or bone.


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


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.


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.


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.


Perirenal hematoma

A collection of clotted blood surrounding the kidney.


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.


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.


Congenital conductive hearing impairment

A type of conductive deafness with congenital onset.


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 characterised by pronounced startle responses to tactile or acoustic stimuli and hypertonia


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.


clubfoot

The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply.


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.


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.


Short phalanx of the 4th toe

Developmental hypoplasia of one or more phalanx of fourth toe.


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.


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).


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


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


Perifolliculitis

Inflammation surrounding hair follicles.


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.


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.


Argininuria

A increased concentration of arginine in the urine.


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 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).


familial supernumerary nipples

Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported.


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.


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.


Phonic tics

Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound.


Premature sternal synostosis

Prematurely closed sternal sutures.


Progressive gait ataxia

A type of gait ataxia displaying progression of clinical severity.


carbuncle

An infection of cutaneous and subcutaneous tissue that consists of a cluster of boils. Commonly, the causative agent is staphylococcus aureus. Carbuncles produce fever, leukocytosis, extreme pain, and prostration.


Muscle flaccidity

A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation.


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.


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.


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.