Pretibial dimple

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


Periarticular subcutaneous nodules

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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

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


tertiary hyperparathyroidism

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


Superior pectus carinatum

Pectus carinatum affecting primarily the superior part of the sternum.


Sparse pubic hair

Reduced number or density of pubic hair.


subcutaneous panniculitis-like T-cell lymphoma

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


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

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


Abnormal clavicle morphology

Any abnormality of the clavicles (collar bones).


Epiphyseal stippling of the humerus

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


Absent vestibular function

Complete lack of functioning of the vestibular apparatus.


Agenesis of primary mandibular lateral incisor


Abnormality of the epiphysis of the 1st metatarsal

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


Deep dermal perivascular inflammatory infiltrate

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


Past medical history

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


pineal parenchymal cell neoplasm

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


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.


Ventricular septal hypertrophy

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


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.


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.


Elevated circulating suberic acid concentration

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


Abnormality of the pancreatic islet cells

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


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

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


internal carotid arteries, hypoplasia of


pilomatrixoma

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


Restricted or repetitive behaviors or interests

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


Impaired distal tactile sensation

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


Absent epiphyses of the 3rd finger

Absence of the epiphyses of the 3rd finger.


Elevated circulating arabitol concentration

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


Bilingual aphasia

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


Impaired convulxin-induced platelet aggregation

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


Cavitating pulmonary nodule

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


Forearm pronation contracture

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


Contracture of the tarsometatarsal joint of the hallux

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


Systolic heart murmur

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


EEG with frontal sharp slow waves

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


Peripheral neuroepithelioma

A neuroblastoma arising from the peripheral nervous system.


Hyperpolarized transepithelial nasal potential difference

Increased (more negative) voltage across the nasal epithelium.


Dysgyria with normal cortical thickness

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


2-5 finger syndactyly

Syndactyly with fusion of fingers two to five.


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


Ragged cuticle

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


Severe cytomegalovirus infection

An unusually severe infection by cytomegalovirus.


Shagreen patch

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


Abnormal circulating creatine kinase concentration

Any deviation from the normal circulating creatine kinase concentration.


Long toe

Toes that appear disproportionately long compared to the foot.


Asymmetry of the ears

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


Non-secretory adrenocortical adenoma

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


Orthokeratosis

Formation of an anuclear keratin layer


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.


Purulent drainage from Stensen duct

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


Intratubular erythrocyte cast

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


Duplication of phalanx of 4th finger

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


Trichilemmoma

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


Parathyroid dysgenesis

Abnormal embryonic development of the parathyroid gland.


Dental malocclusion

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


Ivory epiphysis of the middle phalanx of the 3rd finger

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


Renal arteriole intimal/medial multilamellation

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


Abnormal ventricular septum morphology

A structural abnormality of the interventricular septum.


Irregular epiphysis of the 1st metacarpal

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


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.


Decreased CSF copper concentration

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


Congenital conductive hearing impairment

A type of conductive deafness with congenital onset.


Sleep onset rapid eye movement period

Entering REM sleep immediately upon falling asleep.


Piezogenic pedal papules

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


Dermal papillary IgA deposition

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


hyperekplexia

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


Fecolith

A mass of accumulated hardened fecal matter.


Distal/middle symphalangism of 4th finger

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


isolated oxycephaly

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


Abnormality of the humerus

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


Intrahepatic bile duct dilatation

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


Suprasellar arachnoid cyst

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


Increased pineal volume

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


Filum terminale lipoma

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


Opacified paranasal sinuses

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


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.


Cardiomyocyte hyaline bodies

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


EEG with diffuse acceleration

EEG frequency is abnormally increased.


Abnormal proportion of CD4+ effector memory cells

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


Abnormality of the musculature of the hand


Dysgenesis of the thalamus

Structural abnormality of the thalamus related to defective development.


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.


Fusiform ascending tubular aorta aneurysm

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


Broad chin

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


Fragmentation of the epiphysis of the 1st metatarsal


Abnormal experience of reality

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


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


Perifolliculitis

Inflammation surrounding hair follicles.


Thin corpus callosum

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


Avoidance of stimuli associated with traumatic event

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


Absent posterior alpha rhythm

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


Abnormal circulating polysaccharide concentration

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


Predominantly lower limb lymphedema

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


Two-raphe bicuspid aortic valve

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


Anti-Ma2 antibody positivity

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


Venous malformation of the lip

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


Aortic smooth muscle cell nuclei loss

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


Increased C-peptide level

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


Abnormal renal calyx morphology

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


Symphalangism affecting the middle phalanx of the 4th toe


Protuberant abdomen

A thrusting or bulging out of the abdomen.


Argininuria

A increased concentration of arginine in the urine.


Abnormality of the nasal cavity

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


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.


Abnormal circulating biopterin concentration

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


Ileoileal intussusception

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


craniosynostosis 4

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


Short ear

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


Ivory epiphysis of the 1st metatarsal

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


Gingival calcification

Ectopic deposition of calcium salts found in the gingiva.


Osgood-Schlatter disease

Osteochondrosis of the growth plate near the tibial tuberosity.


Proximal femoral metaphyseal irregularity

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


Disc kidney

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


Abnormal B-type natriuretic peptide concentration

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


Short lingual frenulum

The presence of an abnormally short lingual frenulum.


Delayed umbilical cord separation

Separation of the umbilical cord occurs at an abnormally late timepoint.


Frank breech presentation

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


Ankle joint effusion

Abnormal accumulation of fluid in or around the ankle joint.


chondroblastoma

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


Absent distal phalanges

Aplasia (absence) of the distal phalanges.


Absent lunula

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


Grade III vesicoureteral reflux

Vesicoureteral reflux with dilatation of the collecting system.


Anti-TRIM9/TRIM67 antibody

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


Hypobilirubinemia

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


Triangular epiphysis of the distal phalanx of the 2nd finger

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


Visually-induced seizure

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


Idiosyncratic language

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


Lamina lucida cleavage

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


Fetal lung hyperechogenicity

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


Agenesis of primary maxillary lateral incisor

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


Focal necrotic brainstem lesion

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


Abnormal nostril morphology

Abnormality of the nostril.


Elevated circulating 1-methylhistidine concentration

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


Crowded maxillary incisors

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


Clinodactyly of the 2nd toe

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


Multifocal epileptiform discharges

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


nasopharyngeal teratoma

A teratoma that involves the nasopharynx.


Costochondral pain

Chest wall pain in the area of the costochondral junctions.


Cortical myoclonus

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


Duplicated odontoid process

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


Atoll sign

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


Osteolytic defects of the middle phalanx of the 5th finger

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


Anti-phosphatidyl inositol antibody positivity

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


Whistling appearance

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


Irreversible airflow obstruction

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


Distal femoral metaphyseal irregularity

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


Glenoid fracture

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


primitive neuroectodermal tumor

A malignant neoplasm that originates in the neuroectoderm. The neuroectoderm constitutes the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems and includes some glial cell precursors.


Abnormal oral physiology

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


Caseous vernix-like desquamation

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


Focal aware hemiclonic seizure

A focal hemiclonic seizure in which awareness is retained throughout.


Pre-capillary pulmonary hypertension

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


Prominent tragus

Increase posterolateral protrusion of the tragus.


Acroparesthesia

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


Absent peripheral lymph nodes in presence of infection

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


Partial duplication of the middle phalanx of the 2nd toe

Partial duplication of middle phalanx of second toe.


Neutrophil inclusion bodies

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


Osteoarthritis of the first carpometacarpal joint


Thickened ears

Increased thickness of the external ear.


Dark cerumen

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


Type III truncus arteriosus

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


Tortuous lymphatic vessels

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


Elevated circulating S-adenosyl methionine concentration

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


Fractured thoracic vertebra

A partial or complete breakage of the thoracic vertebra.


Rib exostoses

Multiple circumscribed bony excrescences located in the ribs.


Patchy sclerosis of the 1st metacarpal

Uneven increase in bone density within the 1st metacarpal.


Focal impaired awareness cognitive seizure with anomia

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


Curved dental root

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


Metaphyseal widening

Abnormal widening of the metaphyseal regions of long bones.


Partial duplication of the phalanges of the 4th finger

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


Abnormality of the phalanges of the 3rd toe


Steep acetabular roof

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


nevus of Ota

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


Respiratory failure requiring assisted ventilation

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


Prominent fingertip pads

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


Ectopic ossification in muscle tissue

Formation of abnormal bony tissue within muscle tissue.


Broad inferior crus of antihelix

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


cervix endometriosis

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


Hyperserinemia

An increased amount of serine in the blood.


oligodendroglioma

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


Combined cystic and ground-glass pattern on pulmonary HRCT

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


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


Abnormal affect

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


Cerebral white matter atrophy

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


Upper limb asymmetry

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


Hypnopompic sleep paralysis

Sleep paralysis that occurs when waking up from sleep.


Villous atrophy

The enteric villi are atrophic or absent.


Sclerosis of middle finger phalanx

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


Abnormal platelet shape

A deviation from the normal discoid platelet shape.


Proximal femoral focal deficiency

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


Osteolysis of talus

Osteolysis affecting the talus.


macrodactyly of fingers

A type of Macrodactyly affecting one or several fingers.


Decreased circulating IgG2 level

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


Wide pubic symphysis

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


Structural foot deformity

A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies.


Mediastinal mass

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


Abnormality of the proximal radial epiphysis

Any abnormality of the proximal epiphysis of the radius.


Abnormality of dermal melanosomes

An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis).


Anti-angiotensin receptor type-1 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin receptor type-1.


Anterior displacement of the papillary muscles

Abnormally anterior location of the papillary muscles of the left ventricle.


Pulmonary arterial atherosclerosis

Accumulation of lipids and inflammatory cells along the inner walls of the pulmonary artery.


Contracture of the proximal interphalangeal joint of the 5th finger

Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.


heart cancer

A malignant neoplasm involving the heart


Contracture of the distal interphalangeal joint of the 2nd finger

Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue.


Abnormality of the vitamin B3 metabolism


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

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


Abnormality of external jugular vein

An abnormality of an external jugular vein of the neck.


Subcutaneous calcification

Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument).


Abnormal distal phalanx morphology of finger

Any anomaly of distal phalanx of finger.


Ankle pain

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


Hypohomocysteinemia

A decreased concentration of homocysteine in the blood.


Onycholysis of distal fingernails

Detachment of the distal fingernails from the nail bed.


Inguinal freckling

The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.


Macrodontia

Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth.


Short distal phalanx of the thumb

Hypoplastic (short) distal phalanx of the thumb.


hemoglobin H disease

Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia characterized by pronounced microcytic hypochromic hemolytic anemia.


Complete duplication of the middle phalanx of the 2nd finger

Complete duplication of the middle phalanx of index finger.


C1-C2 subluxation

A partial dislocation of the atlantoaxial joints.


Glomerular crescent formation

Glomerular crescent refers hyperplastic lesions involving 10% or more of the circumference of Bowman's capsule. Crescents can be composed of a variable mixture of epithelial/leukocyte hypercellularity, fibrous matrix, and fibrin.


Short proximal phalanx of the 4th toe

Developmental hypoplasia of the proximal phalanx of fourth toe.


Fungi allergy

Hypersensitivity in form of an adverse immune reaction against fungus.


Short 4th finger

Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger.


Polymelia

Polymelia is a congenital anomaly, which is defined as the presence of accessory limbs attached to various body regions and could be classified as cephalomelia (extra-limb attached to the head), notomelia (extra-limb attached to the back bone), thoracomelia (extra-limb attached to the thorax), and pyromelia (extra-limb attached to the pelvis).


Increased myocardial pyrophosphate uptake

Amount of pyrophosphate uptake by the myocardium as demonstrated by by technetium pyrophosphate (99mTc-PYP) scintigraphy above the upper limit of normal.


Triangular epiphysis of the middle phalanx of the 4th finger

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


Paraspinal hemangioma

A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the paraspinal muscular region, the muscles next to the spine.


Mottled pigmentation of the trunk and proximal extremities


Autophagia

The habitual action of inflicting pain upon oneself by biting and/or devouring portions of one's body.


Eosinophilic ascites

A type of ascites in which there are large numbers of eosinophils in the ascitis fluid.


Focal aware emotional seizure with pleasure

Focal emotional seizure with pleasure in which awareness is retained throughout.


Coronary artery calcification

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


Osteolytic defects of the distal phalanx of the 5th toe


Abnormal blood vessel morphology

Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein).


Atretic gallbladder

Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia.


Recurrent thrombophlebitis

Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).


White hair

Hypopigmented hair that appears white.


Antilactoferrin antibody positivity

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


Mucinous histiocytosis

Multiple subcutaneous non-fragile and skin-coloured papules characterized by interstitial infiltrate of spindle and epithelioid histiocytes, and mucin. There are well circumscribed aggregates of epithelioid histiocytes and mucin in the upper and middle dermis,with the histiocytes arranged between collagen bundles and separated from the epidermis by a Grenz zone.


Midclavicular hypoplasia

Underdevelopment of the middle portion of the clavicle.


Increased serum testosterone level

An elevated circulating testosterone level in the blood.


Open bite

Visible space between the dental arches in occlusion.


Abnormal circulating complement factor H related protein 1 concentration

A deviation from the normal concentration in blood of factor H-related protein 1 (FHR-1)


Generalized periodontitis

A generalized form of periodontitis.


Cytoplasmic antineutrophil antibody positivity

The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils.


Thin nail

Nail that appears thin when viewed on end.


Abnormal CSF alpha-aminobutyrate concentration

Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid.


Abnormal platelet phosphatidylserine exposure

An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement.


Transient decreased circulating IgG3

A temporary reduction beneath the normal level of total immunoglobulin G3 (IgG3) in the blood circulation.


Abolished vibration sense

A complete loss of the ability to perceive vibration.


Aplasia/Hypoplasia of the biceps

Absence or underdevelopment of the biceps muscle.


Atrial arrhythmia

A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance.


Difficulty recognizing another's emotions


polyostotic fibrous dysplasia

Fibrous dysplasia affecting more than one bone. When it is associated with café-au-lait skin pigmentation and endocrine disorders, it is known as McCune-Albright syndrome.


Abnormal cerebral white matter morphology

An abnormality of the cerebral white matter.


Aplasia of the pectoralis major muscle

Absence of the pectoralis major muscle.


Abnormal circulating proline concentration

Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation.


Stippling of the epiphysis of the middle phalanx of the 5th finger

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger.


Bronchocele

A bronchocele is bronchial dilatation due to retained secretions (mucoid impaction) usually caused by proximal obstruction, either congenital (eg, bronchial atresia) or acquired (eg, obstructing cancer). A bronchocele is a tubular or branching Y-or V-shaped structure that may resemble a gloved finger. The CT attenuation of the mucus is generally that of soft tissue but may be modified by its composition (eg, high-attenuation material in allergic bronchopulmonary aspergillosis). In the case of bronchial atresia, the surrounding lung may be of decreased attenuation because of reduced ventilation and, thus, perfusion.


Focal impaired awareness orofacial automatism seizure

A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by orofacial automatisms at onset.


Left ventricular outflow tract obstruction

Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle.


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

Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger.


Bicuspid aortic valve with right-noncoronary cusp fusion

A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and noncoronary cusps (RN fusion pattern). This results in two leaflets with right-left leaflet orientation (also called the atypical pattern). There is thus one completely developed left cusp, two completely developed commissures, and one raphe between the underdeveloped right and noncoronary coronary cusps extending to the corresponding malformed commissure.


Increased CSF tryptophan concentration

Abnormally increased levels of tryptophan in cerebrospinal fluid.


Autophony

Hearing one's own voice resonating loudly in the ear.


Chiari malformation type I

Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic.


Abnormal CSF aspartate family amino acid concentration

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


Stippling of the epiphysis of the distal phalanx of the hallux

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


Abnormal ascending aorta morphology

Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise.


Increased annexin V binding to platelet phosphatidylserine

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


Oligoclonal elevation of circulating IgE

An increase in circulating IgE characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.


Triangular shaped distal phalanx of the 5th toe


Renal interstitial IgG4+ plasma cell infiltration

An increased number of IgG4+ plasma cells in the interstitial space of the kidney.


Abnormal third toe morphology

An anomaly of the third toe.


Aplasia/Hypoplasia of the 5th finger

A small/hypoplastic or absent/aplastic 5th finger.


Osteolytic defects of the phalanges of the 3rd finger

Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger.


Mitten deformity

Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a "mitten" hand deformity.


Stippling of the epiphysis of the proximal phalanx of the 5th finger

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger.


Osteolytic defects of the distal phalanx of the 5th finger

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


Alexithymia

A deficit in emotional awareness is characterized by difficulties in recognizing and expressing feelings and emotions. This deficit manifests as a limited ability to respond to facial cues or other signs of emotions in others, often accompanied by detached connections to others.


Metatarsal fracture

A partial or complete breakage of a metatarsal bone.


Aplasia/Hypoplasia involving the central nervous system

Absence or underdevelopment of tissue in the central nervous system.


torsion dystonia

Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.


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


Abnormal 5th metacarpal morphology

Any abnormality of the fifth metacarpal bone.


Low-grade vesicoureteral reflux

Vesicoureteral reflux without dilation of the renal calyces (Grade I-II).


Nevus psiloliparus

Nevus psiloliparus is a rare fatty tissue nevus that is a marker for encephalocraniocutaneous lipomatosis, a neurocutaneous syndrome with ocular and central nervous system anomalies. Clinically, nevus psiloliparus is often described as a congenital alopecia and appears as an irregularly shaped, circumscribed area of alopecia on the scalp. Histopathology demonstrates a near-complete absence of mature hair follicles with preservation of arrector pili muscles and mature adipocytes within the dermis.


Abnormal vestibulo-ocular reflex

An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude.


nerve compression syndrome

Any nerve disorder caused by the entrapment and compression of a nerve.


Anomalous origin of the left common carotid artery from the brachiocephalic artery

The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery.


Single trichilemmoma

Presence of a unitary trichilemmoma, a benign tumor originating from the outer root sheath of the hair follicle.


Focal impaired awareness hyperkinetic seizure

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


Biventricular hypertrophy

Thickening of the heart walls in both ventricles.


Talipes equinovalgus

A deformity of foot and ankle in which the foot is bent down and outwards.


prosopagnosia

Impaired ability to recognize other human faces in the absence of a vision disorder. It may be a congenital disorder or the result of brain injury.


Hobby horse gait

An abnormal gait characterized by toe walking, stiff legs, and skipping. The gait pattern has some resemblance to cock-walk gait, but affected individuals are able to improve their dystonic gait by walking backward.


Stippling of the epiphyses of the 2nd finger

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger.


Fragmentation of thumb epiphysis

Epiphysis of the thumb having multiple bony fragments.


Aplasia/Hypoplasia of the midbrain

Absence or underdevelopment of the midbrain (mesencephalon).


Neonatal electro-clinical sequential seizure

Neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic signs, often changing lateralization within or between seizures.


Increased emotional expression

Heightened emotional behaviors like crying, laughter, and smiling compared to the individual's baseline.


Anti-muscle-specific tyrosine kinase antibody

The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab).


Talar aplasia

Absent talus owing to a congenital defect.


trophoblastic neoplasm

A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells. Representative examples include hydatidiform mole and choriocarcinoma.


Right atrial thrombus

A thrombus (i.e., a blood clot formed in situ within the vascular system) located in the right atrium of the heart.


Interstitial dermal edema

Accumulation of fluid in the interstitial spaces of the skin. This finding can be appreciated my microscopic examination of a skin biopsy.


penile neoplasm

A benign, borderline, or malignant neoplasm that affects the penis. Representative examples include penile hemangioma, penile intraepithelial neoplasia, and penile carcinoma.


Peripheral axon spheroid formation

Axonal spheroids are bubble-like biological features that form on most degenerating axons.


Two carpal ossification centers present at birth


Abnormal pharynx morphology

A structural anomaly of the pharynx.


Abnormal cardiomyocyte mitochondrial morphology

An anomaly of the structure of mitochondria within cardiomyocytes.


Spastic paraparetic gait

A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait.


Verrucous papule

A wartlike (with multiple small elevated projections) papule.


Elevated circulating 3-hydroxyhexanoylcarnitine concentration

Concentration of 3-hydroxyhexanoylcarnitine (C6-OH) in the blood circulation above the upper limit of normal.


Recurrent cerebral hemorrhage

Recurrent bleeding into the parenchyma of the brain.


Abnormal nasal tip morphology

An abnormality of the nasal tip.


Increased serum bile acid concentration during pregnancy


Polycalycosis

Increased number of calices of the kidney.


Pericardial constriction

Compression of the heart caused by rigid, thickened, or fused pericardial membranes.


Pectus carinatum

A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.


Dysplastic tricuspid valve

A congenital malformation of the tricuspid valve characterized by leaflet deformation.


pulmonary artery hypoplasia

Underdevelopment of the pulmonary artery.


Focal emotional seizure with paranoia

Focal emotional seizure with paranoia is characterized by the presence of paranoia as an expressed or observed emotion at the outset of the seizure.


Single atrioventricular valve regurgitation

Regurgitation of the single atrioventricular valve regurgitation (AVVR) in the context of a congenital heart defect with a single ventricle. Roughly three quarters of patients following Fontan procedure display AVVR.


Social Anxiety

Excessive fear of embarrassment, humiliation, or rejection when exposed to possible negative evaluation by others when engaged in a public performance or social interaction.


Increased CSF lactate

Increased concentration of lactate in the cerebrospinal fluid.


Abnormal second heart sound

Any anomaly of the second heart sound (S2), which is produced by aortic (A2) and pulmonic (P2) valve closure. The A2-P2 interval normally increases with inspiration and narrows with expiration.


Camptodactyly of 2nd-5th fingers

The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension.


Chronic acidosis

Longstanding abnormal acid accumulation or depletion of base.


Focal autonomic seizure

An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature.


Abnormal urine hexanoylglycine concentration

Abnormal concentration of hexanoylglycine in the urine.


Abnormal circulating phenylalanine concentration

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


Meconium peritonitis

Peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications.


Gastrojejunal tube feeding in infancy

Feeding problem necessitating gastrojejunal tube feeding.


Tongue myxoma

A myxoma (benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation) localized in the tongue.


Maternal teratogenic exposure

A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy.


Intrathoracic hemangioma

A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the intrathoracic or chest region.


Thymic hormone decreased

A reduction in the level of thymic horomone.


EEG with centrotemporal epileptiform discharges

Focal epileptiform EEG discharges recorded in the centrotemporal region.


Moderate postnatal growth retardation

A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms.


Anti-steroid 17alpha-hydroxylase antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against steroid 17alpha-hydroxylase.


Episodic hypokalemia

An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes.


Yellow nails

Yellowish discoloration of the nails.


Increased circulating immature neutrophil count

An abnormally increased number of immature neutrophils in the peripheral blood circulation.


cutaneous pseudolymphoma

A pseudolymphoma of the skin.


Bilobed right lung

A developmental defect of pulmonary lobation characterized by the presence of only two lobes of the right lung.


Maintenance insomnia

Individuals affected by abnormal difficulty in staying asleep tend to wake up at night and struggle to return to sleep. This condition typically involves spending more than 30 minutes awake during the night.


Migratory erythematous plaque

A migratory, centrifugal, erythematous, tender, non-purpuric, and well-demarcated plaque. This feature may be observed in TNF receptor-associated periodic syndrome, in which it often occurs together with migratory myalgia in muscles located underneath the affected areas of skin.


Focal emotional seizure with anger

Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behaviour.


Subcortical cerebral atrophy

Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter.


Abnormal B cell proliferation

Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population.


polyneuritis

Inflammation of several peripheral nerves.


Abnormal Intonation

Abnormal rise and fall of the voice in speech and vocalization.


Abnormal pituitary gland morphology

An anomaly of the pituitary gland.


aspartylglucosaminuria

Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).


Atrophic superior cerebellar peduncle

Atrophy of the superior cerebellar peduncle.


Contracture of the proximal interphalangeal joint of the 3rd finger

Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue.


Masseter muscular weakness

Reduced strength of the masseter muscle, whose primary function is to elevate the mandible and thereby raise the mandible towards the maxilla, closing the jaw.


Flexion contracture of toe

One or more bent (flexed) toe joints that cannot be straightened actively or passively.


supratentorial cancer

Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and brain STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation.


Focal aware clonic seizure

A type of focal clonic seizure during which awareness is fully retained throughout.


Ventricular escape rhythm

A ventricular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms).


Ivory epiphysis of the proximal phalanx of the 5th finger

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


Elevated circulating ribitol concentration

An increase above the normal concentration of ribitol in the blood.


Small finger

Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual.


Fractured metacarpal bone of digit 1

A partial or complete breakage of the metacarpal bone of digit 1.


Enlargement of parotid gland

Increased size of the parotid gland.


Hyperglutamatemia

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


Hyperkinetic status epilepticus

Status epilepticus characterized by continuous hyperkinetic proximal limb or axial muscles producing irregular sequential ballistic movements such as pedaling pelvic thrusting, thrashing, or rocking movements.


Fractured talus

A partial or complete breakage of the talus.


Large knee

Abnormally increased size of the knee joint.


Paroxysmal drowsiness

A neurological disorder marked by a sudden recurrent uncontrollable compulsion to sleep


Tip variant segmental glomerulosclerosis

Segmental solidification of the glomerular tuft characterized by an adhesion at the tip of the glomerular tuft abutting the proximal tubular taek-off can be accompanied by increased extracellular matrix, causing glomerular capillary obliteration at the glomerular tip. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed.


Curved middle phalanx of the 2nd finger

Curved appearance of the middle phalanx of the 2nd finger.


Oral melanoacanthoma

Oral melanoacanthoma usually presents as an asymptomatic, ill-defined, rapidly enlarging, macular pigmentation. Although most lesions are heavily pigmented, the coloration may or may not be uniform. Any mucosal site may be affected, but buccal mucosal involvement is most common. Although typically solitary, rare patients may present with multifocal lesions.


Increased proportion of CD8-positive, alpha-beta memory T cells

An abnormally elevated proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.


Decreased circulating thyroglobulin concentration

The concentration of thyroglobulin in the blood circulation is below the lower limit of normal.


Hypoproteinemic edema

An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia).


Delayed peripheral myelination

Delayed myelination in the peripheral nervous system.


paroxysmal dyskinesia

Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome).


Increased red blood cell mass

The presence of an increased mass of red blood cells in the circulation.


Abnormal uridine diphosphate glucose-4-epimerase level in plasma

An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.


Abnormality of the epiphysis of the proximal phalanx of the 2nd toe


Upper limb muscle hypertrophy

Abnormal increase in muscle size and mass of one or both arms not due to training.


Fragmentation of the metacarpal epiphyses

Fragmented appearance of the epiphyses of the metacarpals.


Patchy sclerosis of 5th toe phalanx

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


Generalized morning stiffness

A sensation of stiffness in the joints that occurs following waking up in the morning.


Patchy sclerosis of the distal phalanx of the 4th toe

Uneven increase in bone density of the distal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.


Increased circulating creatine kinase MM isoform

An increased concentration of the MM isoform of creatine kinase in the blood circulation.


Regional abnormality of skin

An abnormality of the skin that is restricted to a particular body region.


Absent Achilles reflex

Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.


Abnormal basal ganglia MRI signal intensity

A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia.


Temporal artery tortuosity

The presence of an increased number of twists and turns of the temporal artery.


Acute respiratory distress syndrome

Acute respiratory distress syndrome (ARDS) is defined as an acute disorder that starts within seven days of the inciting event and is characterized by bilateral lung infiltrates and severe progressive hypoxemia in the absence of any evidence of cardiogenic pulmonary edema. ARDS is defined by the patient's oxygen in arterial blood (PaO2) to the fraction of the oxygen in the inspired air (FiO2). These patients have a PaO2/FiO2 ratio of less than 300.


Hemihypotrophy of lower limb

Shortening of a leg affecting only one side.


Abnormal circulating amino sulfonic acid concentration


Absent pigmentation of the limbs

Lack of skin pigmentation (coloring) of the arms and legs.


Abnormal placenta morphology

An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange.


Fractured epiphysis of third metacarpal bone

A partial or complete breakage of the epiphysis of third metacarpal bone.


Abnormal morphology of the radius

An abnormality of the radius.


Complete duplication of proximal phalanx of the thumb

Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Patchy sclerosis of thumb phalanx

An uneven increase in bone density of one or more of the phalanges of the thumb.


Eosinophilic liver infiltration

Cellular infiltration of the liver parenchyma with a preponderance of eosinophils.


Isothenuria

Inability of the kidneys to produce either concentrated or dilute urine.


Reduced epidermal keratin protein expression

Amount of one or more keratins in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.


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

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


lysosomal storage disease with skeletal involvement


Irregular epiphysis of the middle phalanx of the 2nd finger


Metaphyseal spurs

Bony outgrowths that extend laterally from the margin of the metaphysis.


Absent epiphysis of the proximal phalanx of the hallux

Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux.


Contracture of proximal interphalangeal joints of 2nd-5th fingers

Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd, 3rd, 4th, and 5th fingers due to structural changes in non-bony tissue.


Exostoses of hand bones

Abnormal formation of new bone on the surface of a bone of the hand.


Eyelid myoclonia seizure

An eyelid myoclonia seizure is a type of generalized myoclonic seizure which may or may not be associated with loss of awareness.


Torn oral frenulum

Laceration or tear of an oral frenulum, flaps of mucous membrane that extend from the midline gingiva to the upper or lower lip.


Osseous atresia of the external auditory canal


Occipital neuralgia

A distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side.


Vertebral arch anomaly

A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra.


Hypophenylalaninemia

A decreased amount of phenylalanine in the blood.


Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation.


Anti-side-chain cleavage enzyme antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against cytochrome P450 cholesterol side-chain cleavage enzyme (P450scc), which is encoded by CYP11A1 cytochrome P450 family 11 subfamily A member 1 (Gene ID:1583).


Peripheral hypomyelination

Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system.


Decreased proportion of central memory CD4-positive, alpha-beta T cells

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


Broad ischia

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


Abnormal meningeal morphology

An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater.


Perivascular cardiac fibrosis

A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces.


knuckle pads

Benign skin fibromas, typically occurring over the small joints of the hands and feet, that are associated with repetitive friction or pressure.


Increased circulating IgG2 level

An abnormally increased concentration of the IgG2 subtype in the blood circulation.


Small vessel vasculitis

A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries.


Distal symphalangism of hands

The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases.


Enlarged epiphyses of the 4th finger

Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms.


Aplasia of the distal phalanx of the 3rd finger

Absence of the distal phalanx of the middle (3rd) finger.


Hypoplastic aortic arch

Underdevelopment of the arch of aorta.


Anti-neutrophil elastase antibody positivity

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


Symphalangism of middle phalanx of 5th finger

Fusion of the middle phalanx of the 5th finger with another bone.


Irregular iliac crest

Irregularity of the iliac crest, which is the superior border of the wing of the ilium.


Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain.


Abnormality of mylohyoid muscle

An abnormality of a mylohyoid muscle.


Abnormality of circulating catecholamine level

An abnormal catecholamine concentration in the blood.


Intestinal edema

Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds.


tumor of adipose tissue

A neoplasm (disease) that involves the adipose tissue.


Abnormality of the reflex of the tensor tympani muscle


Problematic alcohol consumption

Impaired ability to stop or control alcohol use despite adverse social, occupational, or health consequences.


Abnormality of the epiphyses of the 2nd toe


Reduced response to gonadotropin-releasing hormone stimulation test

Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels.


Cone-shaped epiphysis of the proximal phalanx of the thumb

A cone-shaped appearance of the epiphysis of the proximal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Focal friction-related palmoplantar hyperkeratosis

Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction.


EEG with focal slow activity

Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy).


Isoleucinuria

An increased concentration of isoleucine in the urine.


mucolipidosis type II

Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.


renal tubular dysgenesis

Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner.


Abnormal lateral cricoarytenoid muscle morphology

Any structural abnormality of a lateral crico-arytenoid muscle, which extends from the lateral cricoid cartilage to the muscular process of the arytenoid cartilage, and can adduct the vocal cords, which closes the rima glottidis and thereby protects the airway.


Chronic absent circulating total IgG

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


Fetal subependymal hemorrhage

A type of fetal intracranial hemorrhage located in the subependymal germinal matrix below the frontal horns of the lateral ventricles in the caudothalamic notch.


Anarthria

A defect in the motor ability that enables speech.


Decreased renal parenchymal thickness

Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans.


Advanced ossification of the humeral epiphysis

Ossification of the humeral epiphysis at an earlier age than normal.


Increased CSF homovanillic acid concentration

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


Increased sputum production

An increase in the amount of airway mucus. This feature may be characterized by frequent or excessive throat clearing (exhalation through tightly constricted laryngopharyngeal tissues accompanied by vibration of the palatoglossal arch and the vocal folds serving to clear mucus from the airway).


Elevated circulating octanoylcarnitine concentration

Concentration of octanoylcarnitine (C8:0) in the blood circulation above the upper limit of normal.


soft tissue neoplasm

A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms.


Thoracic hypertrichosis

Excessive, increased hair growth located in the thoracic region.


Partial duplication of the phalanges of the 2nd finger

A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.


Renal arteriole intima/media storage material accumulation

Deposition of storage material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arterioles of the kidney.


Cotton wool plaques

Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes.


aortopulmonary window

A rare, congenital anomaly in the aorta in which a communication exists between the ascending aorta and the pulmonary artery.


congenital factor XII deficiency

Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.


Duplication of phalanx of the 4th toe

Partial or complete duplication of phalanx of fourth toe.


Ivory epiphysis of the distal phalanx of the 5th finger

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


Hemophagocytosis

Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues.


Flared distal tibial metaphysis

The presence of a splayed (i.e.,flared) metaphyseal segment of the distal tibia.


Addictive spending behavior

An uncontrollable urge to shop and spend money can lead to distress or impairment.


Anti-GQ1b antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b.


Pulmonary granulomatosis

The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the lung.


Defective B cell activation

A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of


nodular malignant melanoma

An aggressive form of melanoma, frequently metastasizing to the lymph nodes. It presents as a papular or nodular raised skin lesion. It comprises approximately 10-15% of melanomas. Morphologically, it often displays an epithelioid appearance.


Abnormal ilium morphology

An abnormality of the ilium, the largest and uppermost bone of the pelvis.


Abnormal microglia morphology

An abnormality of the microglial cells. They are also known as brain-resident macrophages or Hortega cells.


Aplasia/Hypoplasia of the phalanges of the 4th toe