Generalised myoclonic-tonic-clonic seizure provoked by flashing or flickering light.


Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration

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

An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by retained awareness throughout the seizure.


Carpal bone hypoplasia

Underdevelopment of one or more carpal bones.


Hypoplastic acetabulae

Underdeveloped acetabulae.


Cleft of chin

Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin.


vulvar melanoma

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

A usually pigmented, nodular or polypoid malignant neoplasm that originates from melanocytes and arises from the vulva. It presents with bleeding and dysuria.


Peripheral lung neovascularity

The presence of small, tortuous, micronodular, serpiginous intrapulmonary vessels often in the subpleural lung or in proximity to centrilobular arterioles, coursing in directions inconsistent with known arteriolar anatomy.


U-Shaped upper lip vermilion

Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures.


Abnormal synaptic transmission

An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process.


Edema of the dorsum of feet

An abnormal accumulation of fluid beneath the skin on the back of the feet.


Fragmentation of the epiphysis of the distal phalanx of the 2nd finger

Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger.


Postural tremor

A type of tremors that is triggered by holding a limb in a fixed position.


Aplasia of the distal phalanges of the toes

Absence of the distal phalanges of the toes.


Craniofacial hyperostosis

Excessive growth of the craniofacial bones.


Abnormality of the kinin-kallikrein system


hyperlysinemia

Hyperlysinaemia is a lysine metabolism disorder characterized by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.


Abnormal urine output

An abnormal amount of urine production.


Reduced erythrocyte adenosine triphosphate concentration

Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) below the lower limit of normal.


Fibrofolliculoma

Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation.


Mesial parasagittal subcortical heterotopia

Subcortical heterotopia extending along the mesial aspect of the lateral ventricles, with direct connection to mesial polymicrogyria-like cortex at the anterior and posterior limits of the heterotopia.


Abnormal resting energy expenditure from metabolic cart test

Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2).


Abnormal umbilical blood flow measurement


2nd-5th toe middle phalangeal hypoplasia


Abnormality of dorsal nasal artery

An abnormality of a dorsal nasal artery.


Broad 3rd toe

A broad appearance of the third toe.


Abnormal urine carboxylic acid level

Any deviation from the normal concentration of a carboxylic acid in the urine.


Ventral hernia

Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall.


renal hypomagnesemia 2

Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.


Cone-shaped epiphysis of the proximal phalanx of the 3rd finger

A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger 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.


Basal ganglia gliosis

Focal proliferation of glial cells in the basal ganglia.


CNS hypomyelination

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


Painless fractures due to injury

An increased tendency to fractures following trauma, with fractures occurring without pain.


Elevated circulating isovalerylcarnitine concentration

Concentration of O-isovalerylcarnitine in the blood circulation above the upper limit of normal.


Abnormality of dental color

A developmental defect of tooth color.


Middiastolic murmur

A murmur that occurs in the middle of the diastolic phase.


Vaginal birth after Caesarian

Vaginal birth after Caesarian (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally.


Abnormal pattern of respiration

An anomaly of the rhythm or depth of breathing.


Decreased circulating osteocalcin level

A reduced level of osteocalcin in the blood.


Leg dystonia

A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs.


Palatine myxoma

A myxoma (A benign tumor composed of myxomatous tissue composed of loosely-arranged spindle, polygonal, and stellate cells) localized to the palate. Clinically, such tumors may present as a sessile nodule on the hard palate.


Fetal neck mass

An abnormal growth (lump) of tissue in the neck region of a fetus. Masses may be simple cystic,, cystic with a few simple septations (fewer than three septations and less than 3-mm thick), cystic with multiple or thick septations (greater than three septations or septations 3-mm-thick or more), a mass that is than is less than 50% solid, and a mass that is 50% solid or more.


Air bronchogram

An air bronchogram is a pattern of air-filled (low-attenuation) bronchi on a background of opaque (high-attenuation) airless lung. The sign implies (a) patency of proximal airways and (b) evacuation of alveolar air by means of absorption (atelectasis) or replacement (eg, pneumonia) or a combination of these processes. In rare cases, the displacement of air is the result of marked interstitial expansion (eg, lymphoma).


Abnormality of the lumbosacral nerve plexus

Any abnormality of the lumbosacral nerve plexus.


Pulmonary interstitial lymphocyte infiltration

Abnormal accumulation of lymphocytes in the interstitium of the lung.


optic nerve glioma

A glioma that affects the optic nerve. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group.


linear nevus sebaceous syndrome

Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement).


Abnormality of canine

An abnormality of canine tooth.


Laryngeal obstruction

Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress.


Osteolytic defects of the middle phalanges of the toes


Anti-GluK2 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamate kainate receptor subunit 2 (GluK2).


Anti-sphingolipid antibody positivity

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


Synostosis involving the 1st metacarpal

Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 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.


Delayed eruption of primary teeth

Delayed tooth eruption affecting the primary dentition.


Bullet-shaped middle phalanx of the 2nd toe

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


Incomplete ossification of pubis

Failure to complete ossification (maturation and calcification) of the pubic bone.


Abnormal surface-connected open canalicular system

An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction.


Focal impaired awareness undressing automatism seizure

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


Abnormality of the acoustic reflex

An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation.


Spastic triplegia

Spastic weakness found in both lower extremities and one upper extremity.


Abnormality of the distal phalanx of the thumb

Any anomaly of the distal phalanx of thumb.


Absent fifth metatarsal

A developmental abnormality characterized by the absence of the fifth metatarsal bone.


Bulging of the costochondral junction

Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage.


Premature delivery because of cervical insufficiency or membrane fragility


Decreased eosinophil count

Abnormal reduction in the count of eosinophils in the blood per volume.


Irregular articular surfaces of the elbow joints


Abnormal scapula morphology

Any abnormality of the scapula, also known as the shoulder blade.


sirenomelia

Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth.


Scaling skin on fingertip

Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips.


Anemic pallor

A type of pallor that is secondary to the presence of anemia.


Hyperperistalsis

Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine.


Primitive reflex

The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.


Abnormal relationship

The state of having abnormal relationships with others. This does not describe specific aspects of one's social aptitudes but rather a state which may come about from these aptitudes, such as lacking peer relationships, lacking close friends, or having a relational network that is abnormal given one's cultural context.


3-4 toe syndactyly

Syndactyly with fusion of toes three and four.


AA amyloidosis

Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement.


Increased urine sebacic acid concentration

Elevated concentration of sebacic acid in the urine.


Toenail onycholysis

Painless and spontaneous separation of a toenail from the nail bed.


Focal impaired awareness behavior arrest seizure

A focal behavior arrest seizure characterised by impaired awareness at some point during the seizure.


Persistent CMV viremia

Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation.


Subcutaneous neurofibroma

A neurofibroma (benign peripheral nerve sheath tumor) localized in the subcutis (subcutaneous region).


Medication crystalluria

A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber colour. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance.


Chronic absent circulating IgE

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


Dense metaphyseal bands

Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex.


Abnormal proportion of exhausted T cells

A deviation from the normal proportion of exhausted T cell relative to T cell in the blood.


hypolipoproteinemia

Conditions with abnormally low levels of lipoproteins in the blood. This may involve any of the lipoprotein subclasses, including alpha-lipoproteins (high-density lipoproteins); beta-lipoproteins (low-density lipoproteins); and prebeta-lipoproteins (very-low-density lipoproteins).


Bracket epiphysis of the proximal phalanx of the 4th toe


Delusion of infidelity

A false belief that a person is the victim of his or her partner's unfaithfulness.


Macular purpura

Purpura that is flat (non-palpable, not raised).


Short middle phalanx of toe

Developmental hypoplasia (shortening) of middle phalanx of toe.


Cerebral white matter hypoplasia

Underdevelopment of the cerebral white matter.


Abnormal pulmonary vein morphology

An abnormality of the structure of the pulmonary veins.


Proximal femoral metaphyseal abnormality

An anomaly of the metaphysis of the proximal femur (close to the hip).


Irregular capital femoral epiphysis

Irregular surface of the normally relatively smooth capital femoral epiphysis.


Anomalous origin of left pulmonary artery from ascending aorta

The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery.


colonic atresia

Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns.


scrotum neoplasm

A benign or malignant neoplasm that affects the scrotum.


Plantar hyperkeratosis

Hyperkeratosis affecting the sole of the foot.


Late systolic murmur

A murmur that occurs in the latter phase of systole.


Abnormal atrial arrangement

Abnormality of the spatial relationship of the atria to other components of the heart.


Decreased need for sleep

There has been a noticeable decrease in the need for sleep, where individuals feel refreshed even with minimal or no sleep.


Supraumbilical raphe

An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button).


Impaired renal uric acid clearance

A reduction in the ability of the kidneys to remove uric acid from the serum.


Supravalvar pulmonary stenosis

A cardiovascular malformation associated with narrowing at the level of the pulmonary sinotubular junction above the pulmonic valve.


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


Anti-AMPAR antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR).


EEG with occipital sharp waves

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


central nervous system vasculitis

Vasculitis affecting the blood vessels of the brain and/or spinal cord.


Motor delay

A type of Developmental delay characterized by a delay in acquiring motor skills.


Axillary apocrine gland hypoplasia

Developmental hypoplasia of the apocrine sweat glands in the region of the axilla.


Abnormal antral follicle count

Any deviation from a count of antral follicles that is normal for age. Antral follicles appear as small fluid-filled sacs that contain an immature egg. Antral follicle count can be measured (usually on day 2-5 of the menstrual cycle) by transvaginal ultrasound. The number of antral follicles may reflect ovarian reserve.


true hermaphroditism

A rare condition characterized by the unequivocal presence of both testicular and ovarian tissues in an individual. It is usually manifested with ambiguous external genitalia.


apodia

The total absence of the foot, with no bony elements distal to the tibia or fibula.


Focal impaired awareness cognitive seizure with illusion

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


Focal impaired awareness emotional seizure with agitation

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


Absent middle phalanx of 5th finger

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


Orthotopic os odontoideum

Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process.With dystopic os odontoideum, the ossicle is located near the basion or is fused with the clivus.


Meconium pseudocyst

A meconium-containing cyst in the peritoneal space . Meconium pseudocysts form in the presence of meconium peritonitis, which is defined as a sterile peritonitis caused by escape of meconium from the intestinal tract into the general peritoneal cavity during the fetal or perinatal period. When the extruded meconium becomes walled off, it can form a rim-calcified mass representing the meconium pseudocyst.


Decreased proportion of memory B cells

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


Abnormal number of alpha granules

A deviation from the normal count of alpha granules per thrombocyte.


Blood group antigen abnormality

An abnormality of an erythrocyte cell surface molecule.


Abnormal CSF homocarnosine concentration

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


Polyembolokoilamania

Habitual insertion of foreign bodies into bodily orifices.


complement component 4b deficiency

Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4B gene.


Abnormal Eustachian tube morphology

A structural anomaly of the Eustachian tube (ET). The ET is a biomechanical valve between the nasopharynx and the middle ear. Physiologically, it controls the passive adaptation of the middle ear air pressure to the ambient air pressure primarily via direct muscular actions of the soft palate. In the closed state it protects the middle ear. Inadequate function of the ET causes middle ear ventilation disorders.


Abnormal CSF neopterin concentration

Abnormal concentration of neopterin in the cerebrospinal fluid (CSF).


Third heart sound

The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients.


Acute aspiration pneumonia

An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.


Elevated urinary vanillylmandelic acid

An increased concentration of vanillylmandelic acid in the urine.


Angiokeratoma circumscriptum naeviforme

A type of angiokeratoma that typically presents in childhood as a large, mostly linear and unilateral hyperkeratotic plaque which is composed of confluent keratotic papules. The size ranges from a few centimeters up to a major part of the body surface. Initially the lesions present asa multile reddish macules, clinically similar to a nevus flammeus. Within several years they develop into acanthokeratotic papules that agrregate into plaques which may have a hyperkeratotic surface.


Chronic (near) absent circulating IgG1

A lasting absence of immunoglobulin G1 (IgG1) in the blood, whereby at most trace quantities of IgG1 can be measured.


Abnormal circulating 7-dehydrocholesterol concentration

Concentration of 7-dehydrocholesterol in the blood circulation outside the limits of normal.


Kidney teratoma

A teratoma located in a kidney.


Irregular epiphysis of the proximal phalanx of the 3rd toe


Abnormal facial vein morphology

An abnormality of a facial vein.


Absent scaphoid

Congenital absence of the scaphoid..


Absent second fingernail

Absence of the fingernail of the index (second) finger.


Severe periodontitis

A severe form of periodontitis.


Enlarged sylvian cistern

An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure).


Complete duplication of the proximal phalanx of the 2nd finger

Complete duplication of the second proximal phalanx of hand.


Abnormal circulating transferrin concentration

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


Bullet-shaped phalanges of the 4th finger

A fourth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


continuous spikes and waves during sleep

Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development.


Pear-shaped vertebrae

Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours.


Pulsatile tinnitus

Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation.


Elevated urinary epinephrine level

The concentration of epinephrine in the urine, normalized for urine concentration, is above the upper limit of normal.


Abnormal circulating androstenedione concentration

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


Abnormal arcuate vein intima/media morphology

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


Symphalangism of middle phalanx of 4th finger

Fusion of the middle phalanx of the 4th finger with another bone.


Bullet-shaped proximal phalanx of the 4th finger

Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected.


Elevated umbilical artery pulsatility

Human umbilical artery (UA) blood flow pulsatility measured by Doppler ultrasound is a widely used biomarker for the detection of elevated placental vascular resistance. Elevated UA pulsatility, which in the most extreme cases manifests as absent or even reversed end-diastolic velocity, is associated with intrauterine growth restriction (IUGR) and still-birth.


Decreased T cell activation

Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.


Crazy paving pattern

The so-called crazy paving pattern appears as thickened interlobular septa and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. The crazy-paving pattern is often sharply demarcated from more normal lung and may have a geographic outline. It was originally reported in patients with alveolar proteinosis and is also encountered in other diffuse lung diseases that affect both the interstitial and airspace compartments, such as lipoid pneumonia.


Bipartite calcaneus

A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification.


Interhemispheric cyst

Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system.


Therapeutic abortion

Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother's life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice.


Patellar overgrowth

Excessive growth of the kneecap (patella).


Abnormal coagulation factor V activity

Any deviation from the activity of coagulation factor V.


Intestinal inflammation

A reaction characterizeds by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling localized to the in the intestinal tract.


Dermal sinus tract

A dermal sinus tract is an abnormality present at birth over the dorsal midline where an abnormal epithelialized connection from the skin tracks inwards towards the spine, most commonly seen in the lumbosacral region.


Elevated urine acetoacetic acid level

Elevated amount of acetoacetic acid in the urine.


Paradoxical embolism

Paradoxical embolism describes the passage of a venous or right-sided cardiac thrombus into the arterial or systemic circulation.


Aplasia of the proximal phalanges of the hand


Anti-PM-Scl100 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl100.


Aplasia of the tarsal bones

Absence of the tarsal bones.


3-5 toe syndactyly

Syndactyly with fusion of toes three to five.


Small epiphysis of the proximal phalanx of the thumb

Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms.


odontoma

A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. According to the presence or absence of tooth-like structures, it is classified as complex type or compound type. Odontoma of complex type is characterized by the presence of enamel and dentin and the absence of tooth-like structures. It is treated with local excision. If it is incompletely removed, it may recur. Odontoma of compound type is characterized by the presence of tooth-like structures. It is treated by local excision. Recurrences have not been reported.


Decreased circulating beta-C-terminal telopeptide concentration

A reduction from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation.


Osteoporotic tarsals

Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.


Long-tract signs

Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions.


Abnormal interlobular vein intima/media morphology

Any structural anomaly of the inner or middle layer of the interlobular veins of the kidney.


Hypersegmentation of proximal phalanx of third finger

Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger.


Reduced frequency of facial expressions

The number of times facial expressions are produced in a given period is lower than expected given the social and cultural context.


Linear nevus sebaceous

A type of nevus sebaceous with a linear form, raised borders and yellowish color.


ossifying fibroma

A well circumscribed lesion of the bone, most frequently arising from the posterior mandible. It is characterized by the presence of fibrous tissue and a mineralized component which may be woven bone, lamellar bone, or cementum-like material. Complete removal is recommended, since it continues to enlarge if left untreated.


Abnormal large intestine physiology

A functional anomaly of the large intestine.


Decreased glucose-6-phosphate dehydrogenase level in tissue

A decrease in the level of glucose-6-phosphate dehydrogenase in tissue.


Aplasia involving bones of the extremities


A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids.


Hypocalcification of dental enamel

A form of hypomineralization of enamel characterized by reduced calcification.


Anti-carbonic anhydrase II antibody positivity

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


Pectoralis amyotrophy

Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor.


alexia

A receptive visual aphasia characterized by the loss of a previously possessed ability to comprehend the meaning or significance of handwritten words, despite intact vision. This condition may be associated with posterior cerebral artery infarction (infarction, posterior cerebral artery) and other brain diseases.


Elevated circulating acylcarnitine concentration

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


Stratum basale cleavage

Cleavage within the epidermal keratinocytes, which is the innermost layer of the epidermis and consists of proliferating cells that give rise to the outer layers of the epidermis.


Thoracic platyspondyly

A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine.


Dark urine

An abnormal dark color of the urine.


Primary obstructive megaureter

Megaurater associated with obstruction or an adynamic ureteral segment in the ureterovesical junction.


Small epiphyses of the metacarpals

Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms.


Focal cortical dysplasia type IIIb

A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) and/or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to glial or glioneuronal tumor.


Encephalocele

A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.


Fragmentation of the epiphysis of the distal phalanx of the thumb

Epiphysis of the distal phalanx of the thumb having multiple bony fragments.


Prominent crus of helix

The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix.


Oligodontia of primary teeth

Reduced number of primary teeth.


Bracket epiphyses of the middle phalanges of the hand

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


Absent aortic valve cusps

A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva.


Abnormal small intestinal villus morphology


Calcaneonavicular fusion

Synostosis of the calcaneus with the navicular bone.


Slender humerus

Reduction in diameter of the humerus.


Abnormality of the upper limb

An abnormality of the arm.


Abnormal inferior vena cava morphology

Any structural anomaly of the principal vein draining blood from the lower portion of the body.


Mucosal telangiectasiae

Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs.


Abnormality of the musculature of the limbs


Elevated circulating octenoylcarnitine concentration

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


Bilateral vocal cord paresis

Decreased strength of the vocal fold on both sides.


Narrow nasal septum

Abnormally narrow nasal septum.


Globus pallidus calcification

Pathological deposition of calcium salts in the globus pallidus.


Synostosis involving bones of the upper limbs

An abnormal union between bones or parts of bones of the upper limbs.


Stippled calcification of the humeral epiphyses


Chronic axonal neuropathy

An abnormality characterized by chronic impairment of the normal functioning of the axons.


Spinal neurofibroma

A neurofibroma (benign peripheral nerve sheath tumor) localized in the spine.


Cerebral 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 cerebral artery.


Calcification of falx cerebri

The presence of calcium deposition in the falx cerebri.


Stippled calcification in carpal bones

Point-shaped (punctate) calcifications affecting the carpal bones.


primary aldosteronism

An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache.


Triangular epiphysis of the distal phalanx of the 4th finger

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


Decreased alveolar volume

An abnormal reduction in alveolar volume.


Fractured distal phalanx of manual digit 2

A partial or complete breakage of the distal phalanx of manual digit 2.


EEG with generalized polyspikes

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


Increased urinary porphobilinogen

The concentration of porphobilinogen in the urine, normalized for urine concentration, is above the upper limit of normal.


Abnormal circulating creatine concentration

A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells.


Renal arteriole intima/media amyloidosis

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


Perinephric fluid collection

An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography.


Aplasia/Hypoplasia of the ear

The presence of aplasia or developmental hypoplasia of the ear.


Labiomental fasciculations

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


Short chordae tendineae of the tricuspid valve

Abnormally short chordae tendineae of the tricuspid valve.


Elevated circulating homoarginine concentration

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


Anti-citrullinated protein antibody positivity

The presence autoantibodies in the serum that react do different citrullinated antigens, including filaggrin, fibrinogen, vimentin and collagen.


Glomerular endocapillary foam-cell hypercellularity

Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space.


Toe syndactyly

Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".


Abnormal sperm morphology

A structural anomaly of sperm.


Axial muscle weakness

Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs).


Abnormality of ophthalmic artery

Abnormality of the first branch of the internal carotid artery.


Rectal atresia

A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum.


Short metacarpals with rounded proximal ends


Limited knee extension

Reduced ability to extend (straighten) the knee joint.


Increased circulating myristoleate level

An abnormally high concentration of myristoleate in the blood circulation.


Diastema

Increased space between two adjacent teeth in the same dental arch.


Segmental glomerulosclerosis away from the vascular and tubular poles

Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neirhter the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed.


Acute constipation

Constipation of sudden onset and lasting for less than three months.


Cortical radial artery foam cell hypercellularity

A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often macrophages, with a vacuolated appearance in the lumen of cortical radial artery (also known as the interlobular artery) of the kidney.


Hepatic arteriovenous malformation

A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures in the liver.


Juvenile type ovarian granulosa cell tumor

Juvenile granulosa cell ovarian tumor (JGCOT) is a rare sex cord stromal tumor, occuring most frequently in premenarchal girls or young women. In contrast to adult granulosa cell tumor, JGCOT has a high mitotic index and more aggressive tumor growth. Microscopically it is seen as diffuse and regularly distributed neoplastic cells with a wide cytoplasm and pleomorphic hyperchromatic nucleus. Follicle formation, in various sizes and shapes, is important in JGCOT. Call-Exner bodies are infrequently seen in JGCOT in contrast to the adult type.


Medially deviated second toe

Medial deviation of the second toe.


Sparse facial hair

Reduced number or density of facial hair.


multiple epiphyseal dysplasia

Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6.


Abnormal urine hormone level

An abnormal concentration of a hormone in the urine.


Pineal cyst

A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland.


Chronic CSF lymphocytosis

Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter.


Common carotid artery aneurysm

An abnormal widening (dilatation) of the common carotid artery.


Elevated leukocyte alkaline phosphatase

Increased alkaline phosphatase measured within leukocytes.


Delusion of persecution

False beliefs or perceptions in which a person believes that they are being treated with malicious intent, hostility, or harassment - despite significant evidence to suggest otherwise.


Fractured ilium

A partial or complete breakage of the ilium.


Abnormality of the middle ear ossicles

An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).


Abnormal infraorbital artery morphology

An abnormality of an infraorbital artery.


Anti-contactin-1 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CNTN1.


Cold-induced hemolysis

A form of hemolytic anemia that can be triggered by cold temperatures.


Tuberous xanthoma

A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes.


Focal pedal automatism seizure

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


Abnormal emotion

Abnormalities in the intensity, frequency, or duration of emotional experiences.


Cortical subperiosteal resorption of humeral metaphyses


galactosemia

Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form.


Swollen achromatic neurons in the cerebral cortex

The presence of enlarged and swollen neurons that lack Nissl bodies (the rough endoplasmic reticulum-achromasia refers to neurons that lack Nissl bodies) in the cortex of the brain.


Abnormal synovial bursa morphology

A structural anomaly of a synovial bursa.


Chaddock reflex

A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract.


generalized lipodystrophy

Almost complete absence of subcutaneous and/or visceral adipose tissue.


polymicrogyria, bilateral perisylvian, X-linked

A type of perisylvian polymicrogyria that affects both sides of the brain.


Cellular urinary casts

A type of urinary cast composed of cells incorporated in a protein matrix. The cells can be those found in the urinary sediment (erythrocytes, leuklocytes, renal tubular epithelial cells).


Abnormal heart valve physiology

Any functional abnormality of a cardiac valve.


Abnormality of the twelfth cranial nerve.


Vascular granular osmiophilic material deposition

Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide. Deposition of granular osmiophilic material (GOM) is the vascular pathological hallmark of CADASIL, which is the most prevalent hereditary small vessel disease and is caused by missense mutations in the NOTCH3 gene. GOM have been shown to contain NOTCH3 ectodomain (NOTCH3ECD) and extracellular matrix proteins, and can be visualized ultrastructurally in the tunica media of small arteries and capillaries. These electron dense GOM deposits are located in the basement membrane of mural cells, i.e. vascular smooth muscle cells and pericytes. In both manifest and pre-manifest CADASIL patients, GOM deposits are present not only in brain vessels, but also in vessels of other organs, such as the skin.


twin to twin transfusion syndrome

Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated


Congenital sensorineural hearing impairment

A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.


trigonocephaly 1

Any isolated trigonocephaly in which the cause of the disease is a mutation in the FGFR1 gene.


Decreased circulating apolipoprotein concentration

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


Facial palsy secondary to cranial hyperostosis

Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve.


Abnormality of somatosensory evoked potentials

An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex.


Abnormal hand bone ossification

An abnormality of the formation and mineralization of any bone of the skeleton of hand.


Increased hepatitis A virus antibody level

An abnormally increased level of immunoglobulin against hepatitis A virus in the blood.


Recurrent ear infections

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


Triangular epiphysis of the middle phalanx of the 2nd toe


Continuous heart murmur

A murmur that occurs in both systole and diastole.


Elevated circulating CHI3L1 level

Increased concentration of chitinase 3-like 1 (CHI3L1) in the blood circulation.


Fragmentation of the epiphyses of the proximal phalanges of the hand


renal agenesis, unilateral

Unilateral renal agenesis (URA) is a form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter.


Symptomatic seizures

A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed.


Duplication of the middle phalanx of the 4th toe

Partial or complete duplication of middle phalanx of fourth toe.


Decreased interpersonal communication

Reduced information exchange between individuals.


Pansynostosis

Craniosynostosis of all calvarial sutures.


Synkinesis

Unintentional movement in one area of the body produced during intentional movement of another area of the body.


Diaphyseal sclerosis

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


Aplasia/Hypoplasia of the fifth metatarsal bone


Pulmonary opacity

Opacity refers to any area that preferentially attenuates the x-ray beam and therefore appears more opaque than the surrounding area. It is a nonspecific term that does not indicate the size or pathologic nature of the abnormality.


Abnormal natural killer cell morphology

An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells.


Patchy sclerosis of the distal phalanx of the 4th finger

Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger.


Hypoplastic pubic bone

Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone.


Complete cleft of the upper lip

Cleft of the upper lip that starts from the bottom of the upper lip and reaches the nasal cavity.


Thyrotoxicosis from ectopic thyroid tissue


Elevated urine 4-methyl-2-oxopentanoic acid level

Increased amount of 4-methyl-2-oxopentanoic acid in the urine.


Low neutrophil alkaline phosphatase

An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme.


Perineal hemangioma

Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals.


Pelvic mass

An abnormal enlargement or swelling in the pelvic region.


Abnormal chorion morphology

Any structural anomaly of the fetal part of the placenta, which is known as the chorion.


Acute respiratory acidosis

Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35).


Extra-axial cerebrospinal fluid accumulation

An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space.


Fractured middle phalanx of pedal digit 3

A partial or complete breakage of the middle phalanx of pedal digit 3.


Villous hypertrophy of choroid plexus

Overgrowth of the choroid plexus.


Scaphocephaly

Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis.


Metaphyseal cupping of metacarpals

Metaphyseal cupping affecting the metacarpal bones.


Square pelvis bone

An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure.


Increased heart rate variability

Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.


Juvenile aseptic necrosis

Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers.


Abdominal aortic dissection

A tear in the intimal layer of the abdominal aorta causing a separation between the intima and the medial layers.


Small epiphysis of the distal phalanx of the 4th finger

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


T cell chronic lymphocytic lymphoma/leukemia

A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent.


Retropharyngeal hemangioma

A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the retropharyngeal space, the portion of the peripharyngeal space that is located posterior to the pharynx.


Elevated serum transaminases during infections

Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections.


Abnormal oral cavity morphology

Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.


Exercise-induced muscle stiffness

A type of muscle stiffness that occurs following physical exertion.


Reduced circulating fibronectin level

A reduction below the normal concentration of fibronectin the the blood circulation.


limited cutaneous systemic sclerosis

Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.


Abnormal foot morphology

An abnormality of the skeleton of foot.


Abnormality of the spleen

An abnormality of the spleen.


Short proximal phalanx of the 3rd toe

Abnormal reduction in length of proximal phalanx of third toe.


Hydrocolpos

Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction.


Hypoplastic carotid canal

Underdevelopment of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse.


Abnormality of the abdominal organs

An abnormality of the viscera of the abdomen.


Harlequin phenomenon

The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body.


Chin with H-shaped crease

H-shaped crease in the fat pad of the chin.


Bilateral superior vena cava with bridging vein


Abnormal morphology of musculature of pharynx

An abnormality of any of the muscles of the pharynx.


Osseous stenosis of the external auditory canal


Cardiomyocyte degeneration

Deterioration of cardiomyocyte characterized by abnormal features such as loss of myofilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris.


Mycobacterium bacteremia

Presence of viable mycobacteria in the blood.


Cortical radial artery medial hypertrophy

Increased thickness of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.


Semilobar holoprosencephaly

A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.


Early ossification of capital femoral epiphyses

Developmental acceleration of ossification of the proximal epiphysis of the femur.


Hyperchromic macrocytic anemia

A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin.


mongolian spot

A benign, flat, congenital birthmark, with wavy borders and an irregular shape. The color is caused by melanocytes, melanin-containing cells, that are usually located in the surface of the skin (the epidermis), but are in the deeper region (the dermis) in the location of the spot.


Abnormal skull base morphology

An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components.


Aplasia of the middle ear ossicles

Absence of the middle ear ossicles, malleus, incus, and stapes.


Abnormal thymus morphology

Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation.


Symphalangism affecting the proximal phalanx of the 4th toe


2:1 atrioventricular block

A type of second-degree atrioventricular block in which every other P wave is not conducted through the AV node such that only every other P wave is followed by a QRS complex.


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


Complete duplication of the distal phalanges of the hand

A complete duplication affecting one or more of the distal phalanges of the hand.


Abnormal bronchus morphology

Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs.


Lambda Bence Jones proteinuria

The presence of free monoclonal lambda immunoglobulin light chains in the urine.


Abnormal CD69 upregulation upon TCR activation

Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus.


Vaginal adenosis

Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life.


Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against the tyrosine phossphatase region of islet antigen 2A (this region is a specific part of IA-2). Usually IA-2A are measured using the intracellular portion of IA-2 (IA-2ic) made up of the protein tyrosine phosphatase (PTP) and juxtamembrane (JM) regions.


C4 nephritic factor positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that recognize C4b2a, the C3 convertase of the classical pathway of complement.


hereditary gingival fibromatosis

Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.


Abnormal growth hormone level

Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful.


Parenchymal consolidation

Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia).


combined immunodeficiency

A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern.


Abnormal vomer morphology

An abnormality of the vomer.


Hypertaurinemia

An increased amount of taurine in the blood.


Subungual hyperkeratosis

A thickening of the stratum corneum in the region beneath the nails.


Eunuchoid habitus

A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more).


L-shaped kidney

A type of cross fused renal ectopia in which the crossed kidney lies inferiorly and transversely, fused with the lower pole of the normal kidney.


Fragmentation of the epiphysis of the distal phalanx of the 2nd toe


Polyclonal elevation of circulating IgE

A heterogeneous increase in IgE mmunoglobulins characterized by a diffuse band on serum electrophoresis.


Multifocal hypointensity of cerebral white matter on MRI


Vertebral fusion

A developmental defect leading to the union of two adjacent vertebrae.


Complete duplication of the proximal phalanges of the hand

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


Abnormal social behavior

An abnormality of actions or reactions of a person taking place during interactions with others.


Renal tubular epithelial cell apoptosis

Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris.


Decreased serum zinc

A reduced concentration of zinc in the blood.


Abnormality of the plantar skin of foot

An abnormality of the plantar part of foot, that is of the soles of the feet.


Contracture of the proximal interphalangeal joint of the 2nd finger

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


Upper limb metaphyseal widening

Increased width (breadth) of metaphyses of the arms.


Poor suck

An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.


Patchy sclerosis of the distal phalanx of the 5th toe

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


11 thoracic vertebrae

The presence of 11 instead of the normal 12 thoracic vertebrae.


Incomplete ossification of palatine bone

Failure to complete ossification (maturation and calcification) of the palatine bone.


Abnormality of the medullary cavity of the long bones

An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored.


Partial duplication of the middle phalanx of the 4th toe

Partial duplication of middle phalanx of fourth toe.


Delayed self-feeding during toddler years

A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age).


Increased fetal long bone echogenicity

An abnormally elevated echogenicity of fetal long bones in a prenatal sonographic investigation. This finding is due to hypermineralization.


Arterial rupture

Sudden breakage of an artery leading to leakage of blood from the circulation.


congenital unilateral hypoplasia of depressor anguli oris

Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood).


Neonatal wrinkled skin of hands and feet


Abdominal aortic calcification

An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in abdominal aorta.


Focal impaired awareness non-motor seizure

A focal non-motor seizure characterized by impaired awareness at some point during the seizure.


Recurrent viral skin infections

Increased susceptibility to viral skin infections, as manifested by recurrent episodes of viral skin infections.


Perisylvian FDG hypermetabolism

18F-fluorodeoxyglucose (FDG) positron emission tomography and computed tomography (FDG-PET/CT) evaluates the glucose metabolism of the brain. FDG uptake is interpreted to represent glycolysis. This term therefore represents an abnormally increased FDG uptake (increased glucose metabolism) in the region of the brain that surrounds the Sylvian fissure.


Abnormal inner ear morphology

A structural anomaly of the internal part of the ear.


congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease.


Enlarged epiphysis of the middle phalanx of the 5th toe


Abnormal U wave

An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3.


Appendicular spasticity

A type of spasticity that affects one or more limbs (arms or legs).


Fragmentation of the epiphysis of the middle phalanx of the 2nd toe


Broad radial epiphyseal plate

Abnormal increase in width of the epiphyseal growth plate of the radius.


Long-segment aganglionic megacolon

A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid.


Notched T wave

A bifid T-wave with a notch duration between the 2 peaks at leasy 0.04 sec and an amplitude at least 0.05 mV.


Perisylvian polymicrogyria

Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly.


Increased circulating nicotinurate level

An increased amount of nicotinurate in the blood.


Fatigable weakness of respiratory muscles

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


Abnormal hematocrit

Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood.


Short phalanx of hallux

Underdevelopment (hypoplasia) of a phalanx of big toe.


Pulmonary arteriovenous fistulas

A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed.


Dysgenesis of the hippocampus

Structural abnormality of the hippocampus related to defective development.


Aplasia/Hypoplasia of the distal phalanx of the 3rd toe


Abnormal maxilla morphology

An abnormality of the Maxilla (upper jaw bone).


Erythrodontia

Reddish, brown opalescent discoloration of teeth in normal light.


Fetal extra-axial hemorrhage

A type of fetal intracranial hemorrhage with bleeding that occurs within the skull but outside of the brain tissue itself (into the epidural, subdural, or arachnoid space).


Dissociated sensory loss

A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa.


Parietal hypometabolism in FDG PET

Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan.


Decreased proportion of naive CD4 T cells

An abnormally reduced proportion of naive CD4 T cells relative to the total number of T cells.


Atrophic scars

Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.


Potter sequence

A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure.


Coarse metaphyseal trabecularization

Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms.


partial motor epilepsy

A simple partial seizure consisting of clonus or spasm of a muscle or muscle group; it may be single or in a continuous and repetitive series or may spread to adjacent muscles.


Cerebral venous angioma

A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system.


Decreased circulating total IgG

A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.


Acromelia of the lower limbs

Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments.


Anti-GM2 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM2.


Cortical sclerosis of the iliac wing

Increased density related to increased bone mass in the outermost layer (edge) of the iliac wing.


Eosinophilic dermal infiltration

Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils.


Excessive cleaning

Excessive cleaning of surfaces, living space, or environment that is excessive for the situational context.


Abnormal sternal ossification

Any anomaly in the formation of the bony substance of the sternum.


Curved 1st metacarpal

A deviation from the normal straight shape of the first metacarpal.


Abnormal midface morphology

An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface.


Duplication of the 1st metacarpal

Partail or complete duplication of the first metacarpal bone.


Symphalangism affecting the proximal phalanx of the 5th finger

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


Abnormal CD4+CD25+ regulatory T cell proportion

A deviation from the normal proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.


Abnormal mandible condylar process morphology

An abnormality of a mandible condylar process.


Ectopic parathyroid

An abnormal anatomical location of the parathyroid gland.


Radial artery aplasia

Congenital absence of the radial artery.


Beaked nails

Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit.


polydactyly, postaxial, type A1

A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.


Abnormal medullary peritubular capillary lumen morphology

Abnormal structural characteristics of the interior space of the peritubular capillary in the medulla of the kidney.


Bowed humerus

A bending or abnormal curvature of the humerus.


midline cervical cleft

Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia.


idiopathic anaphylaxis

Idiopathic anaphylaxis is a rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment.


Triangular epiphysis of the distal phalanx of the thumb

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


Female fetal virilization

Fetal masculinization of female external genitalia.


Disseminated cryptosporidium infection

Failure to contain infection by a protozoan of the genus Cryptosporidium, leading to spread to many parts of the body.


Acute infectious pneumonia

Acute inflammation of the lung due to an infection.


Adenocarcinoma of the intestines

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


Elevated CSF DOPA concentration

Concentration of DOPA (3,4-dihydroxyphenylalanine) in the cerebrospinal fluid above the upper limit of normal.


Horizontal inferior border of scapula

A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape).


Abnormality of the head

An abnormality of the head.


Tooth avulsion

A type of dental trauma characterized by total dislocation of the tooth from its socket.


Mild postnatal growth retardation

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


Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology

A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells.


Duplication of the middle phalanx of the 5th toe

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


Honeycomb palmoplantar hyperkeratosis

Abnormal thickening of the skin on the palms and soles with an honeycomb pattern.


Short 1st metacarpal

A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.


Fractured larynx

A partial or complete breakage of the larynx.


Dysgyria with thickened cortex

An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation and a thickened cortex intermediate between pachygyria and polymicrogyria.


Anti-ITPR1 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against inositol 1,4,5-trisphosphate receptor 1 (ITPR1).


Interphalangeal joint contracture of finger

Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue.


Focal cortical dysplasia type Ic

A subtype of focal cortical dysplasia type I that is characterized by abnormal radial and tangential cortical lamination.


Gottron's papules

Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints.


Neurogenic claudication

Lumbar spinal stenoses may induce symptoms following an individually typical latency on standing or when walking due to swelling of the cauda equina, which leads to compression. This is referred to as neurogenic claudication. The symptoms of lumbar spinal stenosis can be explained by an increase in lumbar lordosis and spinal canal stenosis in an upright position compared to the sitting position or if spondylolisthesis is present by a shift of the vertebrae while standing and walking. Following an individually characteristic distance, walking becomes associated with deep muscular pain and with neurological deficits, such as sensory deficits and paresis in the lower limbs, which resolve within minutes when the affected person sits or lies down. Activities performed in a flexed posture, such as cycling often cause less problems than walking. For the same reason, walking uphill may be tolerated better than walking downhill. Clinical neurological examination at rest may be entirely normal but there is usually pain on hyperextension of the lumbar spine.


Hypsarrhythmia

Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).


Lower extremity peripheral arterial calcification

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


Abnormal lower limb epiphysis morphology

An anomaly of one or more epiphyses of one or both legs.


chronic rhinitis

Chronic inflammation of the nasal cavity mucosa. It may lead to post-nasal drip resulting in chronic sore throat and chronic cough.


Absent hippocampal commissure

Absence of the fibers that connect the contralateral hippocampi via the crura of the fornix and run beneath the posterior portion of the corpus callosum.


Renal salt wasting

A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).


IgG4 autoimmune antibody positivity

The presence of an antibody of subclass IgG4 in the blood circulation that is directed against the organism's own cells or tissues.


Increased circulating androgen concentration

An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.


Cortical peritubular capillary lumen cholesterol emboli

Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the cortex of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.


Foam cells with lamellar inclusion bodies

The presence of foam cells that contain lamellar inclusion bodies.


Carotid paraganglioma

A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery.


Iliac arterial calcification

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


acute T cell leukemia

Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females.


Decreased post-bronchodilator forced vital capacity

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


Abnormal nasal skeleton morphology

An abnormality of the nasal skeleton.


Renal arteriole intima/media crystal accumulation

Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arterioles of the kidney.


Lateral ventricular asymmetry

Abnormal difference in size between the left and right lateral cerebral ventricles.


Functional intestinal obstruction

The blockage of bowel contents from evacuation; the causes are attributable to non-structural impediments, such as chemical imbalances or the side effects of medications, narcotics in particular.


Persistent head lag

The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes.


Hypoplasia of the corpus callosum

Underdevelopment of the corpus callosum.


Absent epiphyses of the 5th finger

Absence of one or more epiphyses of the 5th finger.


Posterior cerebral artery stenosis

Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery.


Proximal phalangeal periosteal thickening


Focal impaired awareness epileptic spasm

A type of focal-onset epileptic spasm in which awareness is impaired at some point during the seizure.


solar urticaria

Solar urticaria (SU) is a rare and difficult to treat photosensitive disease, in which local skin swelling occurs within minutes of exposure to natural sunlight or even artificial light sources emitting ultraviolet radiation.


Abnormal circulating 18-hydroxycorticosterone level

Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation.


Neck teratoma

A teratoma located in the neck.


Abnormality of the epiphysis of the distal phalanx of the 2nd finger


Abnormal sacroiliac joint morphology

An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone).


Elevated circulating 17-hydroxyprogesterone concentration

An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase.


Nightmares

Frightening dreams, typically occurring during REM sleep, are normal and common in children under 10. However, they can also impact teenagers and adults.


Slender long bones with narrow diaphyses

Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones.


Nasal mucosa vasculitis

Inflammation of blood vessels in the mucosa of the nasal cavity.


Exaggerated median tongue furrow

Increased depth of the median tongue furrow.


Unilateral radial aplasia

Missing radius bone on one side only associated with congenital failure of development.


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


Intratubular leukocyte casts

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


Impaired growth-hormone response to glucagon stimulation test

Failure of growth hormone levels to respond adequately (by increasing) to the glucagon stimulation test.


Arcuate vein lumen cholesterol emboli

Needle-like or slit-like clefts within the interior space of arcuate veins of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.


Proportionate short stature

A kind of short stature in which different regions of the body are shortened to a comparable extent.


Decreased total iron binding capacity

A reduction in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity.


Abnormal abdomen morphology

A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.


Dilated vestibule of the inner ear

Dilatation of the vestibule of the inner ear.


Cone-shaped epiphysis of the distal phalanx of the hallux


2-3-layered lissencephaly

Pachygyria-agyria spectrum whereby at neuropathological examination the cortical plate consists of a two-three layered organization made up of a molecular layer, a relatively thin wavy layer with a higher cellular density and a third layer with lower cellularity.


Arterial dissection

A separation (dissection) of the layers of an artery.


Abnormally loud pulmonic component of the second heart sound


Prelingual sensorineural hearing impairment

A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.


Abnormality of the maxillary sinus

An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity.


Aplasia/Hypoplasia of the hallux

Absence or underdevelopment of the big toe.


Wilson sign

Wilson sign is defined as the elicitation of pain by internally rotating the patient's tibia during knee extension between 90 degrees and 30 degrees of flexion and then relieving that pain by externally rotating the tibia.


Triangular epiphysis of the 1st metacarpal


Hyaline casts

A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends.


Widely spaced toes

An overall widening of the spaces between the digits.


congenital pseudoarthrosis of clavicle

Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle.


Duplication of the proximal phalanx of the 2nd toe

Partial or complete duplication of proximal phalanx of second toe.


meningoencephalocele

A congenital abnormality in which the meninges protrude through a defect in the cranium.


Duplication of phalanx of hallux

Partial or complete duplication of one or more phalanx of big toe.


Renal artery aneurysm

Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment.


Inguinal lymphadenopathy

Enlarged lymph node located in the inguinal region (groin).


Anti-GD1a IgG antibody positivity

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


Supraauricular pit

Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit.


Abnormal dermoepidermal hemidesmosome morphology

An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane.


Reading-induced seizure

A seizure precipitated by reading.


Irregular epiphysis of the middle phalanx of the 4th finger

Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger.


Renal lymphocytic tubulitis

Infiltration of the renal tubular epithelium by lymphocytes.


Recurrent bacterial skin infections

Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.


Insulin-resistant diabetes mellitus at puberty


Reduced brain glutamate level by MRS

An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS).


Elevated circulating hyaluronic acid concentration

Concentration of hyaluronic acid in the blood circulation above the upper limit of normal.


Transient decreased circulating IgD

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


Abnormal cutaneous collagen fibril morphology


Recurrent abscess formation

An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses.


Claw toe deformity

Claw toes are characterized by hyperextension at the metatarsal-phalangeal joints and flexion of the interphalangeal joints.


Elevated urinary 4-hydroxybutyric acid

An increased amount of 4-hydroxybutyric acid in the urine.


Short second metatarsal

Short (hypoplastic) second metatarsal bone.


1-2 toe syndactyly

Syndactyly with fusion of toes one and two.


Partial left sided absence of pericardium

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


Disseminated dermatophytosis

A type of invasive dermatophyte infection characterized by vascular involvement and dissemination to other organs.


Annular cutaneous lesion

A lesion of the skin with a ring-like distribution.


Anti-parotid secretory protein antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against parotid secretory protein.


Axillary lymphadenopathy

Enlarged lymph node located in the axillary region (armpit).


Abnormal circulating fatty-acid anion concentration

Any deviation from the normal concentration of a fatty acid anion in the blood circulation.


Osteolytic defects of the middle phalanx of the 3rd finger

Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger.


Decreased maximal oxygen uptake

Maximum oxygen uptake (VO2max) is defined as the highest rate of oxygen uptake and utilization by the body during intense, maximal exercise, whereby further increases in work rate do not bring on additional rises in VO2 (i.e. plateau). VO2Max is typically measured with a treadmill anad ergometer and the participant exercises with increasing levels of intensity. VO2Max is the point at which oxygen uptake no longer increases despite an increase in workload.


Abnormal blood chloride concentration

An abnormality of chloride homeostasis or concentration in the body.


Flat sella turcica

An abnormally flat sella turcica.


Elevated diastolic blood pressure

Abnormal increase in diastolic blood pressure.


Abnormal tubulointerstitial morphology

An abnormality that involves the tubules and interstitial tissue of the kidney.


Hypomelanotic macule

Hypomelanotic macules ("ash leaf spots") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis.


Focal impaired awareness motor seizure with version

A focal motor seizure with version characterized by impaired awareness at some point during the seizure.


Thyrotoxicosis with toxic single thyroid nodule


Clitoral hypoplasia

Developmental hypoplasia of the clitoris.


Bifid femur

A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side.


Curved proximal phalanx of the 2nd toe

A deviation from the normal straight form of the proximal phalanx of the 2nd toe.


Fractured right clavicle

A partial or complete breakage of the right clavicle.


Cardiac shunt

Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system.


Abnormal cardiovascular system morphology

Any structural anomaly of the heart and great vessels.


Abnormal morphology of the great vessels

A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta.


Increased HDL3c concentration

An elevation above the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.


Bulbar urethral stricture

A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis.


Focal impaired awareness cognitive seizure with auditory agnosia

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


Adrenal calcification

Calcification within the adrenal glands.


Choroid plexus calcification

The presence of calcium deposition in the choroid plexus.


Arcuate artery lumen organized thrombi

Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate arteries of the kidney.


Abnormal epidermis stratum granulosum morphology

An abnormal structure of the stratum granulosum, which is is a thin layer of cells in the epidermis lying above the stratum spinosum and below the stratum corneum.


Symphalangism affecting the proximal phalanx of the 2nd toe


Chvostek sign

A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve.


Salivary gland oncocytoma

A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria)


Anti-periplakin antibody positivity

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


Male urethral meatus stenosis

An abnormal narrowing of the urethral opening (meatus) of the penis.


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


T-wave inversion in the right precordial leads


Arcuate artery endoarterial hypercellularity

Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the arcuate arteries of the kidney.


Developmental stagnation at onset of seizures

A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy.


Pseudohyperkalemia

Pseudohyperkalemia describes a falsely elevated potassium level upon measurement of the serum electrolyte concentration due to disruption of cells during the collection or processing of the sample.


Aplasia/Hypoplasia involving bones of the feet


Focal non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically focal. It is a prolonged focal non-motor seizure.


malignant pleural mesothelioma

A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive.


ectopia cordis

A rare congenital anomaly where the heart is formed outside of the thoracic cavity. It is associated with intracardiac lesions and other structural malformations.


cervical vertebral dysplasia

Dysplasia of the cervical vertebral column.


Conical tooth

An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.


Sclerotic cranial sutures

An increased density in the cranial sutures following obliteration.


Synostosis of the proximal phalanx of the thumb with the 1st metacarpal

Fusion of the proximal phalanx of the thumb with the 1st metacarpal.


congenital high-molecular-weight kininogen deficiency

A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis.


Focal aware autonomic seizure with pallor/flushing

A focal autonomic seizure with pallor / flushing characterized by retained awareness throughout the seizure.


Triangular shaped proximal phalanx of the 2nd toe


Synostosis involving bones of the hand

An abnormal union between bones or parts of bones of the hand.