Impaired self monitoring

Impaired ability to track awareness of the effect that one's behavior has on others and how it compares with standards or expectations for behavior.


Colonic fibrinopurulent exudate

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

Fluid visible on the colonic surface containing fibrin, inflammatory cells, and cellular debris.


Cystic pattern on pulmonary HRCT

On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema.


Increased hepatocellular lipid droplets

An abnormal increase in the amount of intracellular lipid droplets in hepatocytes.


Decreased size of nerve terminals

A reduction in the size of nerve terminals.


Anti-topoisomerase I antibody positivity

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


Abnormal eating behavior

Abnormal eating habits involve excessive or insufficient consumption of food, or any other abnormal pattern of food consumption.


Ductus venosus agenesis

A developmental defect characterized by lack of formation of the ductus venosus (a shunt that allows oxygenated blood in the umbilical vein to bypass the liver in the fetal circulation).


Abnormal testis morphology

An anomaly of the testicle (the male gonad).


Increased urinary phosphoserine level

An increased level of phosphoserine in the urine.


arachnoid cyst

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

Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with hydrocephalus; headache; seizures; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115)


Pulmonary nodule

Focal rounded or ovoid opacity, not more than 3 cm in diameter. Pulmonary nodules are typically observed by chest radiography or computer tomography imaging.


Dorsal hirsutism

Abnormally increased hair growth in the lskin of the back.


Abnormal pitch

Abnormally high or low-pitched vocalization or speech.


Patchy sclerosis of the proximal phalanx of the 5th toe

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


Partial duplication of the distal phalanx of the 4th toe

Partial duplication of the distal phalanx of fourth toe.


Abnormality of the middle phalanx of the 3rd finger


congenital absence of septum pellucidum

The absence of the septum pellucidum is a rare condition that affects the structure of the brain. Specifically, a thin membrane called the septum pellucidum is missing from its normal position in the middle of the brain. When it is missing, symptoms may include learning difficulties, behavioral changes, seizures, and changes in vision. Absence of the septum pellucidum is not typically seen as an isolated finding. Instead, absence of the septum pellucidum is associated with other conditions such as septo-optic dysplasia. Treatment options for the condition vary depending on the underlying disorder. Diagnosis of absence of the septum pellucidum can be made through imaging such as an MRI. Symptoms of absence of the septum pellucidum typically present during childhood, but a diagnosis can also be made before an individual is born (prenatally). If an individual is found to be missing the septum pellucidum, a search for an underlying disorder should be made.


Abnormality of levator veli palatini muscle

An abnormality of a levator veli palatini.


focal segmental glomerulosclerosis 1

Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene.


Posterior fossa cyst at the fourth ventricle


Elevated circulating apolipoprotein A-IV concentration

An increased concentration in blood of apolipoprotein A-IV, a major component of HDL and chylomicrons that has a role in VLDL secretion and catabolism and is required for efficient activation of lipoprotein lipase by ApoC-II.


Mesangial matrix expansion

Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas.


Spinal stenosis with reduced interpedicular distance

An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging).


Abnormality of muscle size

Abnormalities of the overall muscle bulk based on clinical observation.


Congenital malformation of the great arteries

Defect or defects of the morphogenesis of the aorta and pulmonary arteries.


Comedonal acne

A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules.


Elevated circulating growth hormone-releasing hormone concentration

Concentration of growth hormone-releasing hormone above the upper limit of normal in the blood circulation.


prolapse of urethra

Prolapse of the urethral mucosa from the exterior urethral opening.


Sagittal craniosynostosis

A kind of craniosynostosis affecting the sagittal suture.


nervous system cancer

A primary or metastatic malignant neoplasm involving the nervous system.


Anomalous insertion of papillary muscle directly into anterior mitral leaflet

A congenital malformation in which one or both of the papillary muscles (posteromedial or anterolateral) insert directly (that is, without interpositioned chordae tendineae) into the anterior mitral leaflet.


Hypercapnia in cord blood

Abnormally elevated blood carbon dioxide (CO2) level in the cord blood.


Abnormal nasal cartilage morphology

A morphological anomaly of the nasal cartilage.


Triangular epiphyses of the 5th finger

A triangular appearance of the epiphyses of the 5th finger of the hand.


Abnormal upper limb metaphysis morphology

An anomaly of one or more metaphyses of the arms.


tooth ankylosis

Dental ankylosis is a rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement.


Buttock pain

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the buttock (round fleshy area at the lower rear area of a human trunk).


Abnormal umbilicus morphology

An abnormality of the structure or appearance of the umbilicus.


Irregular epiphysis of the distal phalanx of the 4th finger

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


Absence of stomach bubble on fetal sonography

By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation.


Anti-asialoglycoprotein receptor antibody positivity

Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation.


Bracket epiphysis of the proximal phalanx of the 5th toe


Persistent left superior vena cava

A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress.


Tongue neurofibroma

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


Hypohistidinemia

A decreased amount of histidine in the blood.


Self-neglect

Neglecting one's own needs and well-being.


Bulbous tooth

A tooth crown with a marked cervical area constriction.


Nodular-random pattern on pulmonary HRCT

A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern.


Double inlet to single ventricle with common atrioventricular orifice


Eosinophilic microabscess formation in the esophagus

The formation of small localized collection of eosinophiles (an eosinophilic microabscess) in the esophagus. Usually clusters of greater than or equal to 4 eosinophils are seen, that appear as exudates or white spots or white plaques.


Lower limb amyotrophy

Muscular atrophy affecting the lower limb.


Abnormality of the gingiva

Any abnormality of the gingiva (also known as gums).


Abnormal response to glucagon stimulation test

An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH).


Recurrent joint dislocation

Dislocation of a given joint repeated times.


Curved proximal phalanx of the 2nd finger

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


Abnormal postural reflex

Anomaly of the physiological response to maintain the body's posture when movement and position is altered.


craniofacial dystonia

A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck.


Hyperlysinuria

An increased concentration of lysine in the urine.


acromial dimples

A subtype of skin dimples occurring in the shoulder region.


Abnormal morphology of erythroid progenitor cell

Abnormal form of the progenitor cells committed to the erythroid lineage.


Abnormal aortic valve morphology

Any abnormality of the aortic valve.


pulmonary subvalvular stenosis

The obstruction of the right ventricular outflow tract that originates within the body of the right ventricle, that exists at the time of birth; it often occurs in association with other intracardiac anomalies.


Decreased heart rate variability

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


Platelet anisocytosis

Abnormally increased variability in the size of platelets.


Sclerosis of hand bone

Osteosclerosis affecting one or more bones of the hand.


Abnormal CSF serine concentration

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


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


Pseudoepiphyses of the 5th finger

A secondary ossification center in the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.


Tubular microcystic change

Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border.


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

A cone-shaped appearance of the epiphysis of the distal 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.


Bracket epiphysis of the middle phalanx of the 4th toe


Contracture of the metatarsophalangeal joint of the 3rd toe

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


Tapered tooth

A tooth with a crown that narrows from proximal toward the incisal edge. Tapering of teeth typically involves incisors.


Aplasia/Hypoplasia of the 3rd finger

A small/hypoplastic or absent/aplastic 3rd (middle) finger.


Type VI atherosclerotic lesion

Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes.


Abnormal circulating threonine concentration

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


Increased extraneuronal autofluorescent lipopigment

Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.


Night gasping

Waking up at night gasping for breath.


Freezing of gait

Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk.


Decreased CSF glutamate concentration

Abnormally decreased levels of glutamic acid in cerebrospinal fluid.


EEG with generalized epileptiform discharges

EEG discharges recorded on the entire scalp typically seen in persons with epilepsy.


Long uvula

Increased length of the uvula.


Elevated circulating medium-chain acylcarnitine concentration

Concentration of medium-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Medium-chain acylcarnitines have between six and twelve carbon atoms in the acyl-chain (C6-C12),


Limitation of movement at ankles

An abnormal limitation of the mobility of the ankle joint.


Recurrent fever

Periodic (episodic or recurrent) bouts of fever.


Absence or underdevelopment of the nasopharyngeal adenoids.


Decreased platelet glycoprotein IIb-IIIa

Decreased cell membrane concentration of glycoprotein IIb-IIIa.


Abnormal arcuate artery morphology

Anomalous structure of the arc-shaped arteries located at the border of the renal cortex and renal medulla.


Vestibular hypofunction

A general descriptive term that describes impaired functioning of the vestibular apparatus that leads to manifestations such as dizziness or postural imbalance


Thin ear helix

Decreased thickness of the helix of the ear.


Duplication of the proximal phalanx of the 5th finger

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


Dysplastic distal thumb phalanges with a central hole


Focal aware sensory seizure with olfactory features

Seizures characterized by olfactory phenomena at onset - usually an odor, which is often unpleasant.


Renal medullary hyperechogenicity

Increased echogenecity of the medullary region of the kidney.


Acute demyelinating polyneuropathy

Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration.


Abnormal glomerular visceral epithelial cell morphology

Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary.


Increased CSF threonine concentration

Abnormally increased levels of threonine in cerebrospinal fluid.


Fractured shoulder bone

A partial or complete breakage of a shoulder bone.


Abnormal circulating nucleobase concentration

An abnormality of a nucleobase metabolic process.


Periosteal new bone of humeral diaphysis


Abnormal right atrium morphology

Any structural abnormality of the right atrium.


cerebral palsy

A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain.


Singsong Intonation

A speech pattern characterized by abnormal fluctuations in the pitch of the voice.


Pseudoepiphysis of the proximal phalanx of the 3rd toe

A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the third toe.


Enlargement of the distal femoral epiphysis

An abnormal enlargement of the distal epiphysis of the femur.


split hand-foot malformation

Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported.


Decreased HDL3b concentration

A reduction below the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.


Short distal phalanx of the 2nd toe

Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia.


Loss of Purkinje cells in the cerebellar vermis


Abnormal cerebral artery morphology

Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery.


Heavy-chain paraproteinemia

An abnormal immunoglobulin heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.


Abnormal circulating branched chain amino acid concentration

Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation.


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


Abnormal elasticity of skin

Any abnormal increase or reduction in skin elasticity.


Reduced epidermal keratin 10 protein expression

Amount of keratin 10 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.


Diffuse alveolar hemorrhage

A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen.


Reduced epidermal keratin 5 protein expression

Amount of keratin 5 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.


Fractured head of femur

A partial or complete breakage of the head of femur.


megalodactyly

A condition in which a finger or toe is larger than normal size secondary to excessive growth of the anatomical structures or abnormal accumulation of substances.


Cranial hyperostosis

Excessive growth of the bones of cranium, i.e., of the skull.


Dialeptic seizure

A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event.


Abnormality of digestive system physiology

A functional anomaly of the digestive system.


nose, anomalous shape of

Increased volume and globular shape of the anteroinferior aspect of the nose.


Arcuate artery endoarterial lymphocyte hypercellularity

A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of arcuate artery.


Elevated circulating 3-hydroxypalmitoleylcarnitine concentration

Concentration of 3-hydroxypalmitoleylcarnitine in the blood circulation above the upper limit of normal.


hereditary elliptocytosis

Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.


Delayed Echolalia

Repetition of borrowed words or phrases outside of the context in which they were originally heard. E.g., scripting from TV shows or movies.


Abnormality of intracranial pressure

A deviation from the norm of the intracranial pressure.


Anti-Gephyrin antibody

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


Fractured epiphysis of second metacarpal bone

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


Interlobular vein intima/media coagulative necrosis

A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.


Femoral aplasia

Failure of the femur to develop.


Abnormal circulating lysine concentration

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


Generalized non-motor (absence) seizure

A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.


Irregular epiphysis of the proximal phalanx of the 4th finger

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


Congenital pyloric atresia

Congenital atresia of the pylorus.


Chronic decreased circulating IgG1

A lasting decrease of immunoglobulin G1 (IgG1) in the blood.


Venom-induced anaphylaxis

A form of anaphylaxis that is triggered by exposure to venom.


Glomerular endotheliosis

Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen.


Abnormality of the musculature of the thigh


Subepidermal blistering

A type of blistering in which the lesions are located beneath the epidermis.


pituicytoma

An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido.


Fractured distal phalanx of manual digit 4

A partial or complete breakage of the distal phalanx of manual digit 4.


Increased circulating beta-C-terminal telopeptide concentration

A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation.


Dorsocervical fat pad

An area of fat accumulation at the back of the neck in the form of a hump.


acanthosis nigricans

A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy.


Absent epiphysis of the proximal phalanx of the 2nd finger


Abnormality of the face

An abnormality of the face.


Anti-GD1a antibody positivity

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


Complete duplication of the phalanges of the 5th finger

A complete duplication affecting one or more of the phalanges of the 5th finger. 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.


sweat gland disorder

A disease involving the sweat gland.


Trapezius muscle aplasia

A developmental defect characterized by lack of formation of the trapezius muscle, which is broad superficial muscle that extends from the posterior neck to the posterior part of the trunk (thorax).


Bullet-shaped distal 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 distal phalanx of the 4th finger is affected.


Abnormal cortical radial artery intima/media morphology

Any structural anomaly of the inner or middle layer of the cortical radial arteries (also known as interlobular arteries) of the kidney.


Aplasia/Hypoplasia of the pyramidal tract


Luse bodies

Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands.


Pseudo-chilblain

Acral areas of erythema with vesicles or pustules. The lesions resemble chilblains and have purpuric areas, affecting hands and feet.


Barking cough

A cough with a characteristic sound that has been compared to a seal's bark.


Increased circulating IgA level

An abnormally increased level of immunoglobulin A in blood.


Glomerular fibrinoid necrosis

Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis.


Dilated fourth ventricle

An abnormal dilatation of the fourth cerebral ventricle.


Abnormal phytanic acid:pristanic acid ratio

Any deviation from the normal ratio of blood phytanic acid concentration to pristanic acid concentration.


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neurexin-3alpha.


U wave inversion

Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves.


preaxial hallucal polydactyly

Duplication of all or part of the first ray.


Translamellar aortic medial fibrosis

A type of aortic medial fibrosis in which the increase in collagen is more scar-like, altering the arrangement of the lamellar units.


Comedo

A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle).


Hemosiderin-laden macrophages in bronchoalveolar fluid

Hemosiderin-laden macrophages (HLM) in bronchoalveolar lavage (BAL) fluid were originally known as adiagnostic biomarker of alveolar hemorrhage, but have also been observed in idiopathic pulmonary fibrosis (IPF) with histopathological pattern of usual interstitial pneumonia (UIP).


Disproportionate short-trunk short stature

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


Pelizaeus-Merzbacher disease

An X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD.


Glomerular C3 deposition

The presence of complement 3 deposits in the glomerulus.


Absent pubertal growth spurt

The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur.


Abnormal bowel sounds

An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis.


Depressed nasal ridge

Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.


Increased serine family amino acid in urine

An increased level of a serine family amino acid in the urine.


Abnormal circulating IgE level

An abnormal deviation from normal levels of IgE immunoglobulin in blood.


Fetal bowel dilatation

Fetal bowel dilatation is characterized by fluid-filled intestinal loops which measure at least fifteen millimeters long or seven millimeters in diameter. Ultrasonographic image of dilated fetal bowel is a sign of intestinal mechanical or functional obstruction and its prevalence will depend on the underlying condition: bowel atresia or stenosis, malrotation with volvulus, meconium ileus, total colonic aganglionosis, and meconium plug syndrome. The etiology of fetal bowel dilatation is a difficult prenatal diagnosis since ultrasound has limited accuracy for bowel evaluation.


Pallor of dorsal columns of the spinal cord

An abnormally pale appearance of the dorsal portion of the gray substance of the spinal cord. This finding can be observed by histological examination.


Cutaneous finger syndactyly

A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers.


Decreased male libido

Reduced desire for sexual activity on the part of a male.


Type I atherosclerotic lesion

Type I lesions represent the very initial changes and are recognized as an increase in the number of intimal macrophages and the appearance of macrophages filled with lipid droplets (foam cells).


Abnormal pancreatic acinus morphology

Structural anomal of pancreatic acinus.


Decreased circulating beta-2-microglobulin level

Reduced concentration of beta-2-microglobulin in the blood.


Abnormal alveolar volume

Alveolar volume (VA) is a volume accessible during 10-second breath-hold, measured during a single breath manouver. VA is calculated by knowing the fractional concentration of the tracer gas (eg helium) and the volume of the gas inhaled. VA = Vi*(Fi tracer/Fa tracer). In this equation, Vi = inspired volume of tracer gas, Fi tracer= inspired fraction of tracer gas, Fa tracer = alveolar (exhaled) fraction of tracer gas.


Short phalanx of the 2nd toe

Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia.


Effort-induced polymorphic ventricular tachycardia

Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration.


Pancreatic dysplasia

The presence of developmental dysplasia of the pancreas.


Tufted hairs

The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice.


Abnormal circulating homocysteine concentration

An abnormality of a homocysteine metabolic process.


perinephritis

Inflammation of the connective and adipose tissues surrounding the kidney.


Saccular descending thoracic aortic aneurysm

An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall


Renal tubular viral cytopathic changes

Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells.


Elevated CSF argininosuccinic acid concentration

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


Abnormal breast physiology

Any anomaly of the function of the breast.


Increased glutamine family amino acid level in urine

An elevated level of an glutamine family amino acid in the urine.


Limited elbow extension

Limited ability to straighten the arm at the elbow joint.


Dysdiadochokinesis

A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.


Chronic decreased circulating total IgG

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


Metacarpophalangeal thumb joint contracture

Chronic loss of joint motion of the metacarpophalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio metacarpophalangealis pollicis.


Metaphyseal dappling

The presence of spots or rounded patches of abnormally increased density of metaphyseal bone.


Abnormal posterior semicircular canal morphology


Inspiratory crackles

Crackles that are heard during the inspiratory phase.


Finger joint contracture

Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of a finger joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.


Decreased CSF alanine concentration

Abnormally decreased levels of alanine in cerebrospinal fluid.


Cerebellar edema

Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum.


Enlarged epiphysis of the proximal phalanx of the thumb

Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


pseudohypoaldosteronism

An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate.


Narrow naris

Slender, slit-like aperture of the nostril.


Thunderclap headache

Severe head pain with sudden onset, reaching its maximum intensity in less than one minute and lasting from one hour to ten days.


Tibial spur

A bony projection (spur, osteophyte) originating from the tibia.


Plant based food allergy

Hypersensitivity in form of an adverse immune reaction against plant based food allergens.


EEG with central sharp slow waves

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


Abnormal spatial orientation of the cardiac segments

Abnormality of the spatial relationship of the cardiac segments to other components of the heart.


Spinal cord xanthomatosis

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


Mucoid diarrhea

Passage of an increased number of stools containing mucus, a thick fluid substance secreted by mucous membranes.


Abnormality of mouth shape

An abnormality of the outline, configuration, or contour of the mouth.


Spondylolisthesis at L5-S1

Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1).


Increased RIPA

Increased platelet agglutination in response to low-dose ristocetin


Stiff elbow

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


Abnormal epididymis morphology

An abnormality of the epididymis.


Epsilon wave

An electric signal of depolarization observed between the end of the QRS complex and the beginning of the T wave.


Enlarged epiphyses of the 3rd finger

Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms.


Abnormal morphology of the musculature of the neck

An abnormality of the neck musculature.


Erythematous plaque

A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation.


Abnormal hyoglossus muscle morphology

An abnormality of a hyoglossus muscle.


Impacted tooth

A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth).


4-5 toe syndactyly

Syndactyly with fusion of toes four and five.


Right-to-left shunt

Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left.


Cone-shaped epiphysis of the proximal phalanx of the 2nd toe


Abnormal ureter morphology

A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.


Aplasia/Hypoplasia of the uvula

Underdevelopment or absence of the uvula.


Diplomyelia

Duplication of the spinal cord.


Aplasia/Hypoplasia of the cervical spine

Aplasia or developmental hypoplasia of the cervical vertebral column.


Angiofibromas

Angiofibroma consist of many often dilated vessels.


Anti-Yo antibody positivity

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


Abnormality of the proximal tibial epiphysis

Any abnormality of the proximal epiphysis of the tibia.


Fetal pleural effusion

Fetal pleural effusion is the accumulation of excess fluid in the layers of tissue (pleura) lining the lungs and wall of the chest. It may be primary, also termed hydrothorax, occurring as an isolated finding or it may be secondary, most commonly resulting from non-immune hydrops.


Intraluminal thrombi within interlobular veins

Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen of the interlobular veins of the kidney.


Intrapulmonary shunt

Blood flow through a region of the lung in which little or no ventilation takes place, resulting in reduced oxygenation of the blood leaving the lungs.


Focal impaired awareness cognitive seizure with hallucination

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


Abnormal urine citrate concentration

A deviation from normal of the concentration of citrate(3-) in the urine.


Aplasia/Hypoplasia of the 1st metacarpal

Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).


Osteolytic defect of the proximal toe phalanx

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


1-3 finger syndactyly

Syndactyly with fusion of fingers one to three.


Recurrent cutaneous abscess formation

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


Skewfoot

A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occurunder the metatarsal heads and thehead of the plantar-flexed talus.


EEG with frontal epileptiform discharges

Focal epileptiform EEG discharges recorded in the frontal region.


Abnormality of the epiphyses of the hallux


Intratubular dihydroxyadenuria crystals

Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver.


Vesicular eruption

A type of acute-onset skin rash characterized by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. The fluid contained in a vesicle may be clear, serous, or hemorrhagic.


Deep philtrum

Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.


malignant endocrine neoplasm

A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma.


Fragmentation of the epiphyses of the 2nd finger

Fragmented appearance of the epiphyses of the 2nd finger.


Anti-Mi2 antibody positivity

The presence of autoantibodies in the blood circulation that react against the Mi-2 antigen.


Fibrous crescent

A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference.


Abnormal play

An abnormality in a child's ability play.


Elbow contracture

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


Bloody bronchoalveolar lavage fluid

Return of lavage fluid characteristically has a bloody apperance in pulmonary alveolar hemorrhage. This is due to admixture of blood, which typically increases with each consecutive lavage portion. Microscopically erythrocytes can be seen. After 24 to 48 h macrophages contain phagocytosed erythrocytes, indicating previous bleeding.


Small epiphysis of the distal phalanx of the 3rd toe


Abnormality of the temporomandibular joint

An anomaly of the temporomandibular joint.


Interlobular vein intima/media venulitis

Inflammation of the interlobular veins of the kidney which may affect only the intima or may be transmural.


Abnormal platelet dense granule ATP/ADP ratio

Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets.


Abnormal neck morphology

Any structural anomaly of the neck region.


Dystrophic toenail

Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate.


Focal cortical dysplasia type IIIa

A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis).


Mesoaxial hand polydactyly

The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly.


Abnormal ganglion morphology

An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system.


Bilateral sensorineural hearing impairment

A bilateral form of sensorineural hearing impairment.


Increased serum pyruvate

An increased concentration of pyruvate in the blood.


Megacystis

Dilatation of the bladder postnatally.


Increased pulmonary vascular resistance

Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units.


Urinary bladder hamartoma

A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the urinary bladder.


Increased femoral anteversion

An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward.


Sclerosis of toe phalanx

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


Brain fog

Brain fog is a type of transient cognitive dysfunction that comprises a constellation of symptoms that impair intellectual functioning to a level that interferes with daily activities, commonly including forgetfulness, mental slowness, difficulty thinking or focusing, a perceived slowing of mental processing speed, inability to find the right words, a sensation that the mind went blank or is "cloudy". Brain fog tends to recur and may be triggered by factors such as physical fatigue, lack of sleep, and prolonged standing or may appear to occur spontaneously.


Abnormal rituals

Insistence on rituals which are self-imposed on a person's environment including directing the behavior of those around them.


Vocal tremor

A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability.


situs inversus

A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning).


Extremely preterm birth

Birth before 28 completed weeks of gestation (up to and including 27 weeks and 6 days of gestation).


Abnormality of the falx cerebri

An abnormality of the Falx cerebri.


Generalized hypotonia due to defect at the neuromuscular junction


Malaligned carpal bone

Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna).


epidermolytic ichthyosis

A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.


Gonadotropin deficiency

A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH).


Abnormality of the axillary hair

Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty.


Fractures of the long bones

An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna).


Abnormal HDL subfraction concentration

An abnormal concentration of an HDL subfraction, which can be determined by methods such as electrophoresis followed by densitometric determination of the areas under the peaks. Large HDL subfractions are defined as HDL1 (greater than 12 nm), HDL2b (9.7-12 nm), and HDL2a (8.8-9.69 nm). Small HDL subfractions are defined as HDL3a (8.2-8.79 nm), HDL3b (7.8-8.19 nm), and HDL3c (7.20-7.79 nm).


Irregular carpal bones

Carpal bones with irregular or fragmented margins.


Abnormal digestive system morphology

A structural anomaly of the digestive system.


Ivory epiphysis of the distal phalanx of the 5th toe


Foot asymmetry

A difference in size or shape between the left and right foot.


Hypoplasia of the gallbladder

The presence of a hypoplastic gallbladder.


Decreased proportion of transitional B cells

A reduction in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.


Addictive methamphetamine use

Addiction to methamphetamine.


Elevated circulating myoglobin concentration

An increased blood concentration of myoglobin.


Reduction of neutrophil motility

An abnormal reduction of the cell motility of neutrophils.


Abnormality of the proximal humeral epiphysis

Any abnormality of the proximal epiphysis of the humerus.


Hyperdense pulmonary mass

A type of pulmonary mass with high attenuation.


Elevated vascular endothelial growth factor level

Increased blood concentration of vascular endothelial growth factor (VEGF).


Short fifth metatarsal

Short (hypoplastic) fifth metatarsal bone.


Hyperamylasemia

Increased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.


Decreased circulating calcitonin concentration

Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation below the lower limit of normal.


Absent epiphyses of the middle phalanges of the hand


Separation insecurity

Fears of rejection by and/or separation from significant others are associated with fears of excessive dependency and complete loss of autonomy.


Micromelia

The presence of abnormally small extremities.


Advanced ossification of carpal bones

Ossification of carpal bones at an abnormally early age.


Uni- and bilateral multifocal epileptiform discharges

Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere.


patent urachus

Patent urachus is a type of congenital urachal anomaly characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus.


Wide nasal ridge

Increased width of the nasal ridge.


Dental enamel pits

The presence of small depressions in the dental enamel.


Aplasia/Hypoplasia of the proximal phalanx of the hallux


Bracket epiphyses of the thumb

An abnormality of the thumb 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.


Interrupted aortic arch type C

Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries.


Abnormal gastrointestinal tract morphology

Abnormal structure of the gastrointestinal tract.


Wrist drop

A condition in which the affected individual cannot extend the wrist, which hangs flaccidly.


limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.


Truncus arteriosus

A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.


Reticular pattern on pulmonary HRCT

On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh.


Squawks

Squawks are short inspiratory wheezes of less than 200 ms duration and are also known as squeaks. Acoustic analysis shows the fundamental frequency varying between 200 and 300 Hz. Squawks usually occur in late inspiration and are often preceded by late inspiratory crackles.


Fractured distal epiphysis of distal phalanx of manual digit 1

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


Pseudoepiphysis of the proximal phalanx of the 5th finger

A secondary ossification center in the proximal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.


Partial duplication of the distal phalanges of the hand

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


Arteriovenous malformation of the maxilla

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


Decreased circulating IgG3 level

A reduction in immunoglobulin levels of the IgG3 subclass in the blood circulation.


Axillary epidermoid cyst

An epidermoid cyst in the armpit.


Abnormal metacarpal epiphysis morphology


Esophageal hemangioma

A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the esophagus.


Impaired distal proprioception

A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints.


Hemiatrophy of lower limb

Unilateral atrophy (reduction in size) of a leg.


Glomerular endocapillary leukocyte hypercellularity

Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries.


Morgagni diaphragmatic hernia

An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity.


Abnormal cardiac atrial physiology

An abnormality of the function of the cardiac atria.


Anti-H1 antibody positivity

The presence of autoantibodies in the blood circulation that react against histone H1.


Supraventricular tachycardia with a manifest accessory pathway


Long metacarpals

An abnormally increased length of the metacarpal bones.


High urinary gonadotropin level

An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism.


Carpometacarpal synostosis

Fusion involving carpal and metacarpal bones.


Pulmonary artery adventitial fibrosis

Increased amount of collagen, proteoglycans, and other extracellular matrix proteins resulting in scarring and thickening in the adventia of the pulmonary arterial tree.


Myoclonic seizure

A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.


primary cutis verticis gyrata

Cutis verticis gyrata (CVG) is a progressive cutaneous disorder predominantly affecting males and characterized by hypertrophy and thickening of the skin of the scalp forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. CG can be isolated (essential CVG) or associated with other abnormalities such as intellectual deficit, epilepsy, cataract, blindness, and deafness (non essential CVG).


Sclerosis of the middle phalanx of the 2nd finger


Bowel diverticulosis

The presence of multiple diverticula of the intestine.


Abnormal nasal bone morphology

An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone.


Abnormal CSF metabolite concentration

Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid.


Tibial metaphyseal irregularity

Irregularity of the normally smooth surface of a metaphysis of a tibia.


Necrolytic migratory erythema

Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution.


Abdominal wall defect

An incomplete closure of the abdominal wall.


T-shaped uterus

An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging.


fetal akinesia deformation sequence

Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes.


brachydactyly type A5

Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb.


Stippling of the epiphysis of the distal phalanx of the thumb

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


Palatal tremor

Palatal tremor (PT) is an involuntary, rhythmic and oscillatory movement of the soft palate. PT is a rare type of tremor involving the soft palate. It can be unilateral or bilateral.


Absent end-diastolic umbilical artery flow

An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an absence of flow in the umbilical artery at the end of diastole.


Increased CSF taurine concentration

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


Paradoxical increased cortisol secretion on dexamethasone suppression test


Irregular epiphysis of the middle phalanx of the 5th finger

Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger.


Photosensitive tonic-clonic seizure

Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light.


testicular teratoma

A non-seminomatous germ cell tumor arising from the testis. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). Testicular teratomas in children follow a benign clinical course whereas in postpubertal patients may metastasize to other anatomic sites.


Sclerosis of the middle phalanx of the 2nd toe


Pseudoepiphyses of the 3rd finger

A secondary ossification center in the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.


Plaque-like facial hemangioma

Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology.


Abnormal fetal nasal bone visualization

Abnormal appearance or non-visualization (apparent absence) of the nasal bone of a fetus in first trimester sonographic screening. Assessment of the fetal nasal bone is generally performed at 11-14 weeks gestational age.


Action myoclonus

A type of myoclonus (arrhythmic muscular jerking) that is induced by voluntary movement. It is made worse by attempts at precise or coordinated movement (intention myoclonus) and may also be provoked by certain sensory stimuli.


Abnormal HDL cholesterol concentration

Any deviation from the normal concentration of high-density lipoprotein cholesterol (HDL) in the blood.


Increased density of left ventricular trabeculae

An increased density (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae).


osteochondritis dissecans

A rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis.


Acetabular spurs

The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum.


Focal autonomic seizure with pupillary dilation/constriction

A type of focal autonomic seizure characterized by pupillary dilatation or contraction as the initial semiological feature.


Vertebral artery aneurysm

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


Elevated circulating hydroxybutyric acid concentration

An increased concentration in the blood circulation of a hydroxybutyric acid, that is, of a compound comprising a butyric acid core carrying at least one hydroxy substituent.


Elbow pain

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


Aplastic clavicle

Absence of the clavicles as a developmental defect.


Peroneal muscle atrophy

Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius).


Appendiceal mucinous neoplasm

An epithelial neoplasm originating in the appendix and often associated with cystic dilation of the appendix due to accumulation of gelatinous material, morphologically referred to as mucoceles.


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

Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.


Flattened metatarsal heads

Abnormally flat shape of the heads of the metatarsal bones.


Bicuspid aortic valve with right-left cusp fusion

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


Multiple small bowel atresias

The presence of multiple areas of atresia affecting the small intestine.


Abnormal circulating prealbumin concentration

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


Abnormality of prenatal development or birth

An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.


complete atrioventricular canal

Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterized by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow.


Chiari malformation type 3

A type of Chiari malformation that involves herniation of the hindbrain (cerebellum with or without the brainstem) into a low occipital or high cervical meningoencephalocele.


Recurrent fungal infections

Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.


Self-biting

Habitual biting of one's own body.


Triangular tibia

A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle directed laterally.


Selective mutism

Voluntary failure to use spoken language (at whatever level attained) in selective social contexts over a period of time.


Genu varum

A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.


Organized thrombi within interlobular vein lumen

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


Prominent inferior crus of antihelix

Increased protrusion of the inferior crus relative to the prominence of the antihelix stem.


Labial abscess

A circumscribed area of pus or necrotic debris in the labia.


Axonal regeneration

The presence of axonal regeneration following a previous axonal lesion.


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


Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration

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

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.


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.


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.


Branchial fistula

A congenital fistula in the neck resulting from incomplete closure of a branchial cleft.


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.


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).


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


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.


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.


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.


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.


tracheal disorder

A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma.


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.


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.


Umbilical vein varix

Focal dilation of the umbilical vein.


Midline defect of the nose

This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip.


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.


Abnormal erythrocyte morphology

Any structural abnormality of erythrocytes (red-blood cells).


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.


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.


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.


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.


Dimple on nasal tip

An abnormal indentation of the skin in the region of the nasal tip.


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.


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.


Burning mouth

An intense sensation of burning, scalding, or tingling feeling of the tongue or other regions of the oral mucosa.


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.


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