Interlobular septal thickening

Presence of thickening of the interlobular septa of the lungs as seen on a CT scan.


Impaired cortisol response to glucagon stimulation test

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

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


Recurrent thromboembolism

Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream.


Severe infection

A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection.


Reduced epidermal extracellular matrix protein 1 protein expression

Lower than normal amount of extracellular matrix protein 1 (ECM1) in the epidermis.


Focal impaired awareness motor seizure

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


Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes


Hypoplastic sweat glands

Underdevelopment of the sweat glands.


Lower limb dysmetria

A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg.


Aplasia of the proximal phalanx of the 4th finger

Absence of the proximal phalanx of the ring (4th) finger.


Agenesis of maxillary central incisor

Agenesis of upper secondary incisor or of upper central primary incisor.


Transient psychotic episodes

Relatively short-lived periods of psychosis are characterized by the sudden onset of severe disturbances in perception, thinking, and behavior. These episodes typically last for a brief duration, generally ranging from a few days to a few weeks, and are often triggered by a significant stressor or traumatic event.


Muted facial expression

A tendency to produce facial expressions with decreased intensity or expressivity which appear muted or flat.


Amegakaryocytic thrombocytopenia

Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes.


Pulmonary situs inversus

Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus.


Abnormal lingual nerve morphology

Any structural anomaly of a lingual nerve.


Deep cerebral white matter hyperintensities

Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system.


Glomerular deposits

An abnormal accumulation of protein in the glomerulus.


Reduced natural killer cell activity

Reduced ability of the natural killer cell to function in the adaptive immune response.


Bloody mucoid diarrhea

Passage of many stools containing blood and mucus.


Ureteral duplication

A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.


Dilatation of the tricuspid annulus

An increase in the diameter of the ring (annulus) of the tricuspid valve.


Aplasia of metacarpal bones

Developmental defect associated with absence of one or more metacarpal bones.


Localized skin lesion

A lesion of the skin that is located in a specific region rather than being generalized.


Unroofed coronary sinus

Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion.


Apical muscular ventricular septal defect

A muscular ventricular septal defect located at the apex of the heart.


Spherocytosis

The presence of erythrocytes that are sphere-shaped.


Type 1 schizencephaly

A type of Schizencephaly in which there is a trans-mantle column of abnormal grey matter but no evidence of a CSF-containing cleft on MR imaging.


Reduced circulating prekallikrein concentration

Reduced concentration of prekallikrein (PK; also known as Fletcher factor) in the blood circulation. PK is the precursor of plasma kallikrein, a serine protease that activates kinins. PK is cleaved to produce kallikrein by activated Factor XII.


Brachioradialis areflexia

Inability to elicit brachioradialis tendon reflex.


Fractured clavicle bone

A partial or complete breakage of the clavicle bone.


Gowers sign

A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.


Abnormal retinol-binding protein level

A deviation from normal blood concentration of retinol-binding protein (RBP). The most commonly used indicator of vitamin A status is the serum retinol concentration (retinol is one of the several compounds known as vitamin A). The serum RBP concentration is used as a surrogate measure for serum retinol.


Abnormal large intestine morphology

Any abnormality of the large intestine.


communicating hydrocephalus

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

An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations.


Anti-Zinc transporter 8 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against zinc transporter 8.


Abnormal cochlea morphology

An abnormality of the cochlea.


Glycogen accumulation in pulmonary interstitial cells

Accumulation of immature interstitial cells containing abundant cytoplasmic glycogen defined by periodic acid-Schiff (PAS) positive cells.


Abnormal circulating glycerol level

Any deviation from the normal concentration of glycerol in the blood.


Pseudoepiphysis of the 1st metacarpal

The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal.


Sacral meningocele

A congenital abnormality in the sacral region of the spine, in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface.


Glomerular basement membrane amyloid spicule

Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains.


Triangular epiphyses of the metacarpals

A triangular appearance of the epiphyses of the metacarpals. Thess epiphyses are located at the distal end of the metacarpals.


Parietal bossing

Parietal bossing is a marked prominence in the parietal region.


Pulmonary cylindroma

A cylindroma located in the lung. Cylindromas are well-circumscribed, smooth, pale pink nodular tumors, often with arborizing vessels visible. The tumors are slow growing and vary in size from a few millimeters to over 5 mm.


Fusiform cerebral aneurysm

A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery.


congenital pulmonary sequestration

A rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation.


Abnormal size of pituitary gland

A deviation from the normal size of the pituitary gland.


vagus nerve paraganglioma

A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia.


Insulin-resistant diabetes mellitus

A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels.


Anal intraepithelial neoplasia

Anal intraepithelial neoplasia (AIN) is a premalignant lesion of the anal mucosa that is a precursor to anal cancer.


Paroxysmal lethargy

Repeated episodes of sudden-onset and transient lethargy.


Erlenmeyer flask deformity of the femurs

Flaring of distal femur.


Increased alpha-globulin

An abnormally increased level of circulating alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant.


Anti-Ma1 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma1.


Plantar edema

An abnormal accumulation of fluid beneath the skin on sole of the foot.


Closed neural tube defect

A type of neural tube defect that is covered by skin.


Increased urinary sulfite level

The concentration of SO3(2-), i.e., sulfite, in the urine, normalized for urine concentration, is above the upper limit of normal.


megaloblastic anemia, folate-responsive

A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate.


Hyperinsulinemic hypoglycemia

An increased concentration of insulin combined with a decreased concentration of glucose in the blood.


Foot polydactyly

A kind of polydactyly characterized by the presence of a supernumerary toe or toes.


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


Obstructive azoospermia

Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.


Bilirubinuria

Presence of conjugated bilirubin in the urine.


histidinuria due to a renal tubular defect

An increased concentration of histidine in the urine.


Inferior crossed fused renal ectopia

A type of cross fused renal ectopia characterized by fusion between the upper pole of the cross-fused ectopic kidney (located more inferiorly relative to the other kidney) and the lower pole of the other orthotopic kidney (located in a more superior position).


Beaded septum sign

Irregular and nodular thickening of interlobular septa reminiscent of a row of beads.


Abnormal lateral ventricle morphology

A morphological anomaly of the lateral ventricle.


Atrophy/Degeneration affecting the cerebrum

The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain.


Microtia, first degree

Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean.


testicular microlithiasis

The deposition of calcium phosphate microliths within the seminiferous tubules.


Abnormal cortical radial artery morphology

Any structural anomaly of the radial arteries that branch off at right angles from the arcuate artery and carry blood toward the cortex of the kidney.


Focal aware motor seizure with dysarthria/anarthria

A focal motor seizure with dysarthria / anarthria characterized by retained awareness throughout the seizure.


Cerebral artery atherosclerosis

The formation of the formation of fibrofatty lesions in the wall of an artery located in the brain.


Abnormal urinary sulfate concentration

Abnormal concentration of sulfate in the urine.


Abnormal aggressive, impulsive or violent behavior


Increased urinary mucus

An increased amount of urinary mucus. A small amount of mucus is produced by mucous membrane epithelial cells of the urinary tract. An increased amount of mucus can be detected upon urinalysis or other assays and may indicate conditions such as urinary tract infection, urinary tract reconstruction involving the use of bowel segments, or contamination of the urine sample prior to urinalysis.


Susceptibility to coronavirus 229e

Increased susceptibility to coronavirus 229e, as manifested by recurrent episodes of coronavirus 229e.


Anomaly of the upper limb diaphyses

A structural abnormality of a diaphysis of the arm.


Pulmonary arterial plexiform lesion

Focal proliferation of pulmonary artery endothelial cells, leading to the formation of complex capillary-like channels.


Febrile status epilepticus

A seizure lasting 30 minutes without fully regaining consciousness, provoked by fever (temperature greater than 38.0 degrees Celcius) at the time of seizure-onset, without a prior history of afebrile seizure and with no evidence of an acute central nervous system infection or insult.


Non-periodic recurrent fever

Episodic fever that recurs at irregular intervals.


Superior mediastinal mass

A type of mediastinal mass that is located above the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4).


Abnormal rapid eye movement sleep

Abnormality of REM Sleep are phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tone except for the eye and middle-ear muscles. There are also phases of rapid eye movements.


C3 nephritic factor positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb).


Aplasia of the left hemidiaphragm

Congenital absence of the left half of the diaphragm.


Abnormal neuron morphology

A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions.


Satyr ear

Sharp pointed superior portion of the ear, with variable overfolding of the helix.


Abnormal reproductive system morphology

A structural or developmental anomaly of any of the tissues involved in the genital system.


2-4 finger syndactyly

Syndactyly with fusion of the fingers two to four.


Elevated right ventricular systolic pressure

Elevation of right ventricular systolic pressure (RVSP) above normal limits. In adults, RVSP is normally 20-30 mmHg.


Recurrent Aspergillus infections

An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections.


Small hand

Disproportionately small hand.


Epileptic aura

An epileptic aura is a purely subjective clinical manifestation of an epileptic seizure. If an epileptic aura is not followed by loss of awareness or propagation to a bilateral tonic-clonic seizure then it is a type of focal aware non-motor seizure.


Paroxysmal dyspnea

A sudden attack of dyspnea that occurs while the affected person is at rest.


Postaxial foot polydactyly

Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.


Abnormal CSF carboxylic acid concentration

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


hyperalphalipoproteinemia

An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease.


Focal impaired awareness manual automatism seizure

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


Osteolytic defects of the proximal phalanges of the hand


Fractures, Open

A traumatic break to the bone in which the continuity of the bone has broken through the skin.


Focal aware non-motor seizure

A focal non-motor seizure in which awareness is retained throughout the seizure.


Fractured phalanx of pes

A partial or complete breakage of the phalanx of pes.


malignant ear neoplasm

A malignant neoplasm that affects the ear. Representative examples include ceruminous adenocarcinoma and squamous cell carcinoma of the external ear and adenocarcinoma of the middle ear.


Increased urine glutamate level

An increased concentration of glutamate in the urine.


Nodular-perilymphatic pattern on pulmonary HRCT

A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution.


Narrow greater sciatic notch

A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.


precocious puberty in female

A precocious puberty that involves the female organism.


Abnormal urinary acylglycine profile

An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution.


Scanning speech

An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly.


Delayed pneumatization of the mastoid process

An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms.


Prominent stem of antihelix

Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix.


Ventricular septal aneurysm

A bowing (bulging to one side) of the interventricular septum of more than 15 mm on either side in adults and 5 mm in children during normal cardiac motion.


Impaired neutrophil bactericidal activity

A reduction in the ability of neutrophils to kill bacteria.


Intermittent hypothermia

Episodes of reduced body termperature.


Elevated circulating follicle stimulating hormone level

An elevated concentration of follicle-stimulating hormone in the blood.


Reduced serum alpha-1-antitrypsin

A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs.


Absent proximal phalanx of thumb

Absence of the proximal phalanx of the thumb. 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.


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

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd toe.


Delayed ossification of carpal bones

Ossification of carpal bones occurs later than age-adjusted norms.


Anti-GD1b IgG antibody positivity

The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside.


Anti-platelet antigen antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against antigens present on the surface of thrombocytes such as the glycoproteins GPIIb/IIIa, GPIb/IX, and GPIa/IIa.


Subependymal nodules

Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis.


Partially duplicated kidney

The presence of a partially duplicated kidney.


Abnormality of the skeletal system

An abnormality of the skeletal system.


Shoulder contracture

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


distal arthrogryposis

A muscle tissue disease characterized by congenital joint contractures of hand and feet.


Abnormal occipital bone morphology

Abnormality of the occipital bone of the skull.


Abnormal erythrocyte sedimentation rate

A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling.


Abnormal thalamic MRI signal intensity

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


Self-cutting

Deliberate harm to one's body, in the form of cutting that results in tissue damage, without a conscious intent to die.


Oral aversion

Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing).


Stiff finger

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


renal hypoplasia, bilateral

Bilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present.


Increased circulating NT-proBNP concentration

An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP).


Positive regitine blocking test

A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension.


Increased CSF tyrosine concentration

Abnormally increased levels of tyrosine in cerebrospinal fluid.


Elevated circulating glutarylcarnitine concentration

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


Myotonia of the lower limb

Slowed relaxation of muscles in the leg.


Right coronary artery ostial atresia

Absence of the normal opening of the coronary ostium from which the right main coronary artery originates.


Increased proportion of class-switched memory B cells

An increase in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.


Partial absence of cerebellar vermis

Congenital absence of a part of the vermis of cerebellum.


Small epiphyses of the middle phalanges of the hand


Ivory epiphyses of the 5th toe

Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


Reduced circulating octadecenoylcarnitine concentration

Concentration of octadecenoylcarnitine (C18:1 acylcarnitine) in the blood circulation below the lower limit of normal.


Aplasia/Hypoplasia of the bladder

Absence or underdevelopment of the urinary bladder.


Enlarged kidney

An abnormal increase in the size of the kidney.


Decreased low-density lipoprotein particle size

An abnormal decrease in the average size of low-density lipoprotein particle size in the blood circulation.


Duplication of the proximal phalanx of the 2nd finger

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


Partial duplication of the proximal phalanx of the hallux

Partial duplication of the proximal phalanx of big toe.


Prominent antihelix

The presence of an abnormally prominent antihelix.


Abnormal platelet volume

Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers.


Elevated circulating 5-oxoproline concentration

Concentration of L-pyroglutamic acid in the blood is above the upper limit of normal.


Reflex seizure

Seizures precipitated by exogenous stimuli.


Increased serum estriol

An elevation above normal limits of estriol concentration in the circulation.


Delayed femoral head ossification

Delayed ossification of the femoral head.


Long proximal phalanx of finger

Increased length of the proximal phalanx of finger.


Tongue thrusting

Pressing forward of the tongue in the mouth, a retained motoric habit from infantile swallowing patterns


Aminoglycoside-induced hearing loss

Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics.


Increased CSF histidine concentration

Abnormally increased levels of histidine in cerebrospinal fluid.


Reduced red cell adenosine deaminase level

Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.


Misalignment of the pulmonary veins

The term is commonly used to describe a putative abnormal location of pulmonary vein branches adjacent to pulmonary arteries within the same adventitial sheath. However, evidence has been provided that the vessels in question are not pulmonary veins, however represent dilated bronchial veins.


Pruritis on abdomen

Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the abdomen.


Dysplastic megalencephaly

A congenital brain malformation characterized by marked overgrowth and dysplasia affecting one or both cerebral hemispheres, and, in some cases, subcortical brain regions as well. The presence of dysplasia in dysplastic megalencephaly distinguishes it from other forms of generalized megalencephaly.


Broad toe

Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.


Glomerular capillary collapse

Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs).


Affective epileptic aura

Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.


Absence of memory B cells

Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin.


Single transverse palmar crease

The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.


Thoracocervical ectopia cordis

A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum.


Large vessel vasculitis

A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta.


Perioral radial furrowing

The presence of radial grooves in the skin surrounding the mouth (see Figure 4 of PMID:27833976).


Failure of eruption of permanent teeth

Lack of tooth eruption of the secondary dentition.


Popliteal pterygium

A pterygium (or pterygia) occurring in the popliteal region (the back of the knee).


Sacral lipoma

Presence of a lipoma in the region of the sacrum.


Fallopian tube mass

A swelling or enlargment localized to the Fallopian tube. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.


Elevated CSF 4-hydroxybutyric acid concentration

Abnormally increased level of 4-hydroxybutyric acid in the cerebrospinal fluid (CSF).


Short hallux

Underdevelopment (hypoplasia) of the big toe.


Sacralization of the fifth lumbar vertebra

A congenital anomaly, in which the transverse process of the last lumbar vertebra (L5) fuses to the sacrum on one side or both, or to ilium, or both.


double outlet left ventricle

Double-outlet left ventricle (DOLV) is an extremely rare congenital cardiac malformation in which both the aorta and the pulmonary artery arise, either exclusively or predominantly, from the morphologic left ventricle.


Absent ossification of calvaria

Absent ossification of the calvaria (vault of the skull).


Curved proximal phalanx of the 3rd finger

Curved appearance of the proximal phalanx of the 3rd finger.


Orthostatic hypotension due to autonomic dysfunction


Recurrent bacterial infections

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


Abnormal residual volume

Any deviation from normal values of the residual volume, which is defined as the volume of air left in the lungs at the end of maximal expiration (ie. the volume of air which you cannot voluntarily exhale from your lungs).


Epiphyseal stippling of the metacarpals

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


Sterile abscess

An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms.


Venous malformation

A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region.


Abnormal penis morphology

Abnormality of the male external sex organ.


Hyperfibrinolysis

Increased degradation of fibrin, associated with clot instability and bleeding


Delayed elbow epiphyseal ossification

A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow.


Atypical gestures

Spontaneous production of communicative gestures that are perceived as odd or mechanical, or are poorly integrated with other means of communication. This may include inaccurate mimicry of typical gestures.


Elevated circulating erythritol concentration

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


Palmoplantar hyperkeratosis

Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.


Increased CSF valine concentration

Any increased amount from normal of valine in the cerebrospinal fluid.


Elevated fetal middle cerebral artery peak systolic velocity

Increased peak systolic velocity of the fetal middle cerebral artery (MCA) as evaluated by Doppler ultrasound.


Conus terminalis arteriovenous malformation


Abnormal femoral torsion

Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range.


porokeratosis

A clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella.


Dystonic gait

Dystonic gait disorders frequently appear bizarre, particularly because activity increases dystonic tonus and posture. The abnormal posture of the foot in dystonic gait typically involves inversion, plantar flexion and tonic extension of the big toe. In many patients complex types of walking, such as walking backwards and running are paradoxically less impaired than walking forward and may seem completely unaffected. Sensory tricks, for instance, if the affected individual rests a hand on his or her neck, may improve or even normalize dystonic gait in some patients.


Cortical radial artery medial atrophy

Atrophy (wasting, decreased thickness) of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.


Abnormal hepatic glycogen storage

Change in normal glycogen storage content.


Elevated circulating D-dimer concentration

An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation.


Absent dermal elastic fibers

Elastic fibers not demonstrable in skin biopsy.


Abnormal circulating erythropoietin concentration

Any deviation from the normal concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.


Orthostatic tachycardia

An increase in heart rate with standing of 30 beats per minute or more.


fissured tongue

Accentuation of the grooves on the dorsal surface of the tongue.


Macrocephaly at birth

The presence of an abnormally large skull with onset at birth.


Generalized limb muscle atrophy

Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations.


Onion bulb formation

Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.


Broad uvula

Increased width of the uvula (subjective finding).


Symphalangism affecting the proximal phalanx of the hallux


Reduced plasminogen activator inhibitor 1 activity

Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator.


Short phalanx of the thumb

Hypoplastic (short) thumb phalanx.


Urinary oval fat bodies

The presence in the urine of desquamated tubular epithelial cells or macrophages filled with lipid droplets.


Double-layered patella

An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood.


Abnormality of upper lip vermillion

An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin.


Nonocclusive coronary artery atherosclerosis

Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries.


Preaxial polydactyly

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


Abnormal judgment

Beliefs that deviate from what is considered rational or within the range of normal human judgment and belief formation.


Abnormal descending aorta morphology

A structural abnormality of the part of the aorta that begins at the aortic arch and then descends through the chest and abdomen.


Gingival hyperkeratosis

Hyperkeratosis of the gingiva.


Hypoplastic fifth toenail

Underdeveloped nails of the fifth toes.


Absent palmar crease

The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease).


Abnormal forebrain morphology

An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle.


Dilatation of renal calices

An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine.


Hyperintensity of cerebral white matter on MRI

A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter.


Unhappy demeanor

A noticeably unhappy disposition is characterized by negative assumptions, self-defeating talk, fear of failure, and negative rumination about past events.


Broad hallux

Visible increase in width of the hallux without an increase in the dorso-ventral dimension.


Duplication of the distal phalanx of the 2nd finger

Partial or complete duplication of the distal phalanx of index finger.


Abnormal second toe morphology

An anomaly of the second toe.


Abnormal vertebral segmentation and fusion


Curved middle phalanx of the 5th toe

A deviation from the normal straight form of the middle phalanx of the fifth toe.


Pancreatic aplasia

Aplasia of the pancreas.


Swiss cheese atrial septal defect

Multiple defects in the atrial septum.


larynx atresia

A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation.


Small intestinal bleeding

Bleeding from the small intestine.


Increased theta frequency activity in EEG

Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution.


Abnormal HDL2b concentration

Any deviation from the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.


Spontaneous chorioamniotic separation

Persistence separation of the chorionic and amnionic membranes after the 16th week of gestation (not as a result of a procedure such as amniocentesis).


Recurrent bacterial upper respiratory tract infections

An increased susceptibility to bacterial upper respiratory tract infections as manifested by a history of recurrent bacterial upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).


Decreased post-bronchodilator forced expiratory flow 25-75%

A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed after the administration of a bronchodilating medication.


Boerhaave syndrome

A syndrome characterized by spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part.


Patchy sclerosis of the proximal phalanx of the 4th toe

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


Abnormal communication

Presence of any form of communication (e.g., verbal or non-verbal) that does not align with cultural expectations or developmental level.


Curved middle phalanx of the 2nd toe

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


brachydactyly

A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms.


Complete duplication of the proximal phalanx of the 3rd toe

Complete duplication of proximal phalanx of third toe.


Aplasia of the lower vagina

A failure to develop of the lower part of the vagina.


Small anterior fontanelle

Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms.


Irregular ossification of humeral metaphyses


Increased hepatic echogenicity

Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device.


Anomalous origin of left subclavian artery

Origin of the left subclavian artery from an anomalous anatomical location.


Discordant atrioventricular connection

Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart.


Partial duplication of the distal phalanx of the 2nd finger

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


Calcium phosphate crystalluria

The presence of calcium phosphate crystals in the urine.


Fractured distal phalanx of pedal digit 3

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


Recurrent pancreatitis

A recurrent form of pancreatitis.


Abnormal patella morphology

Abnormality of the patella (knee cap).


Aplasia of the middle phalanx of the 5th toe


Rhabdoid tumor of the kidney

A highly aggressive, extremely rare neoplasm of the kidney that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers, and pathologic diagnosis requires familiarity with these microscopic features plus awareness that adult onset is possible. It can be associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm.


Avulsion fractured tibia

A fractured in which a fragment of the tibia tears away from the main mass of bone as a result of physical trauma.


Abnormal speech volume

Speech that is abnormally loud or quiet for the social context in which it is spoken.


Reduced amygdala volume

A decrease in the volume (size) of the amygdyla.


gonadal dysgenesis

A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics.


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


Decreased pulmonary fissure count

Lack of one or more of the normal pulmonary fissures.


Exaggerated rugosity of the labia majora

Marked rugae formation of the skin of the labia majora.


Anorectal abscess

An abscess located at the junction of the anal canal and the rectum.


Reduced C-peptide level

A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion.


Increased circulating thyroglobulin level

An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.


Temporal cortical atrophy

Atrophy of the temporal cortex.


Phenylalaninuria

Increased level of phenylalanine in urine.


Recurrent meningococcal disease

Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus.


Bullet-shaped middle phalanx of the 5th 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 middle phalanx of the 5th finger is affected.


Visceral hallucination

A type of hallucination that involves the perception of internal bodily sensations or processes that do not actually exist.


Aplasia of the 3rd metacarpal

Absence of the third long bone of the hand.


Abnormal sperm mid-piece morphology

A structural abnormality of the sperm mid-piece.


Curved thumb phalanx

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


Decreased circulating parathyroid hormone level

An abnormally decreased concentration of parathyroid hormone.


Vertebral artery calcification

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


Enlarged tectum

Increasaed size of the tectum, which is the region of the midbrain posterior to the cerebral aqueduct of Sylvius. The midbrain is the most superior portion of the brainstem.


Pulmonary valve defects

Any defect in the valve connecting the heart and the pulmonary artery.


Cardiac teratoma

A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumor size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone.


Triplomyelia

Triplication of the spinal cord - extremely rare.


Penile thrush

Overgrowth of candida albicans in the penis.


Impaired collagen-induced platelet aggregation

Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics.


Follicular hyperkeratosis

A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.


Abnormal adiponectin level

A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism.


Fibrillar glomerular subepithelial deposits

Fibrillar deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate).


Aplasia cutis congenita of scalp

A developmental defect resulting in the congenital absence of skin on the scalp.


Focal aware emotional seizure with crying

Focal emotional seizure with crying (dacrystic)in which awareness is retained throughout.


Fractured sternoclavicular joint

A partial or complete breakage of the sternoclavicular joint.


Everted antitragus

Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear).


Ovarian torsion

Ovarian torsion is a twisting of the ligaments that support the adnexa, cutting off the blood flow to the ovary.


Left aortic arch with isolated subclavian artery

The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis.


Aplasia/Hypoplasia of the distal phalanx of the thumb


Abnormal circulating C-reactive protein concentration

Any deviation from the normal concentration of C-reactive protein in the blood circulation.


Abnormal frontal bone morphology

An abnormality of the frontal bone.


Shoulder muscle hypoplasia

Underdevelopment of muscles of the shoulder.


Temporal lobe calcification

The presence of calcium deposition within the temporal lobe of the brain.


Decreased circulating dihydrotestosterone concentration

A reduced concentration of dihydrotestosterone in the blood circulation.


congestive splenomegaly

Sclerosis of the intrahepatic portal veins of the liver and generally accompanied by non-cirrhotic portal hypertension, features of which may include splenomegaly and varices.


Fractured forearm bones

Bone fracture in the radius, ulna, or wrist.


Multinucleation of renal tubular epithelial cells

Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view.


Sertoli cell-only phenotype

A histological phenotype observed on testicular biopsy in which only Sertoli cells line the seminiferous tubules of the testis.


Stiff knee

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


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

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


Sclerosis of the middle phalanx of the 5th toe


Decreased acrosin in sperm head

A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process.


Bronchomegaly

Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection.


Elevated circulating hydroxyphenlyllactic acid concentration

An increased concentration of 4-hydroxyphenlyllactic acid in the blood circulation.


Increased serum zinc

An increased consentration of zinc in the blood.


Aplasia of the sweat glands

Absence of the sweat glands.


Ileal atresia

An abnormal closure, or atresia of the tubular structure of the ileum.


Torsion of appendix of testis

The appendix testis or hydatid of Morgagni, is a vestigial remnant of the Müllerian duct located on the superior pole of the testicle between the testis and epididymis. Although this appendage has no vital function, it is present in 50% of males. Torsion of twisting of this vestigial remnant can be incredibly painful, but usually requires no medical intervention.


Elevated circulating C6 acylcarnitine concentration

Concentration of C6 acylcarnitines in the blood circulation above the upper limit of normal. C6 acylcarnitines have a six-carbon acyl chain.


Microphallus

Length of penis more than 2 SD below the mean for age accompanied by hypospadias.


Arterial occlusion

Blockage of blood flow through an artery.


Distal humeral metaphyseal irregularity

Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow).


Increased level of methylsuccinic acid in urine

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


Thinking-induced seizure

Seizures induced by thinking and decision-making. comment:


Absence of acoustic reflex

Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli.


Glomerular capillary wire loop deposits

Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop.


Tragal bridge of crus of helix

The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix.


Increased urinary glycerol

An increased concentration of glycerol in the urine.


Neutrophilia in absence of infection

An increased number of neutrophils circulating in the blood in the absence of an infection. Factors contributing to neutrophilia could include inflammation or congenital disorders.


Increased overbite

Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm.


Vaginal bleeding during sex

Bleeding during sex.


brachydactyly type D

A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has material basis in mutation in the HOXD13 gene on chromosome 2q31.1.


Pressured speech

There has been an increase in the amount of spontaneous speech, which is generally continuous, rapid, loud, and difficult to interrupt. It may sometimes be incoherent and continue even when no one is listening.


Abnormality of the urinary system

An abnormality of the urinary system.


Absent humeral epiphyseal ossification

Lack of formation of bone in the epiphysis of the humerus.


Non-necrotizing granuloma

A granuloma which is not associated with necrotic changes.


Cone-shaped epiphysis of the middle phalanx of the 4th finger

A cone-shaped appearance of the epiphysis of the middle phalanx of the ring 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.


Fetal trigonocephaly

A fetal ultrasound finding defined by flattening of the occiput with pointing of the frontal bones and brachycephaly with an increased cephalic index. It is characterized by keel shaped deformity of forehead with midline ridge, bilateral fronto temporal constriction with compensatory biparietal expansion, supra orbital and lateral orbital retrusion and hypotelorism. This finding is said to resemble a strawberry.


Bracket epiphysis of the 1st metacarpal

An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate.


Prominent median palatal raphe

Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate.


Increased urine pentacarboxylporphyrin level

Concentration of pentacarboxylporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal.


primary cutaneous amyloidosis

Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis.


coccidioidomycosis

A fungal infection caused by Coccidioides immitis. Affected individuals usually have mild flu-like symptoms. However, pneumonia and systemic involvement with the formation of abscesses may develop as complications of the disease.


lobar holoprosencephaly

Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally.


Aplastic colon

Congenital absence of the colon


Abnormal cerebrospinal fluid morphology

An abnormality of the cerebrospinal fluid (CSF).


Triangular epiphysis of the middle phalanx of the 3rd finger

A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.


Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, and in association with other features.


Aortic valve leaflet calcification

Deposition of calcium salts in the leaflets (cusps) of the aortic valve.


Mid-frequency hearing loss

A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz).


Abnormal gesture use

Abnormality in the use of gestures defined as hand, shoulder, and head movements that convey a shared meaning within a culture that replace or supplement verbal communication.


Frontal venous angioma

A venous angioma of the frontal lobe of the brain.


Aplasia/Hypoplasia of the phalanges of the 4th finger


Hypoglycemic encephalopathy

Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage.


Ivory epiphysis of the proximal phalanx of the 2nd toe


Abnormality of the pineal gland

An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin.


Abnormality of the shoulder girdle musculature


Lack of gonadotropin-releasing hormone pulsatility

Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion.


Postlingual sensorineural hearing impairment

A form of sensorineural hearing impairment with onset after the acquisition of speech.


Telangiectasia of the oral mucosa

Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa.


Hyperglutaminemia

An increased concentration of glutamine in the blood.


Fragmentation of the epiphysis of the proximal phalanx of the 4th toe


Abnormal biliary tract morphology

A structural abnormality of the biliary tree.


Multilamellation of cortical peritubular capillary basement membranes

Duplicated basement membranes of the peritubular capillaries located in the cortex of the kidney and arranged in multiple concentric layers.


Autoimmune antibody positivity

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


Dilatation of Inferior mesenteric artery

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


Symphalangism affecting the proximal phalanx of the 5th toe


Decorticate rigidity

A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus.


Hemiatrophy of upper limb

Unilateral atrophy (reduction in size) of an arm.


Open neural tube defect

A type of neural tube defect that is not covered by skin.


Abnormal T-wave

An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles.


Atrial situs inversus

Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side.


Focal aware orofacial automatism seizure

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


Increased urinary multiantennary sialylated oligosaccharide

An abnormal increase in the concentration of multiantennary sialylated oligosaccharides in the urine.


laryngostenosis

Narrowing of the laryngeal airway.


Elevated circulating C18 acylcarnitine concentration

Concentration of C18 acylcarnitines in the blood circulation above the upper limit of normal. C18 acylcarnitines have a eighteen-carbon acyl chain.


Typical absence status epilepticus

Typical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged typical absence seizure.


Abnormal placental membrane morphology

Structural anomaly of the fetal membranes (also known as the amniochorionic or placental membranes), which comprise a vital intrauterine compartment, where they perform mechanical, immune, and endocrine functions to promote growth of the fetus and protection from environmental adversity. Amniochorionic membranes anatomically consist of a single layer of cuboidal amnion epithelial cells, chorionic trophoblasts, and scattered fibroblasts connected by a layer of type IV collagen-rich extracellular matrix.


Gustatory agnosia

People cannot identify tastes, even though they can experience them.


Elevated residual volume

Increase in the amount of air remaining in a person's lungs after full exhalation.


Type IV truncus arteriosus

Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present.


Abnormal circulating valine concentration

Any deviation from the normal circulation of valine in the blood circulation.


Enlarged epiphysis of the 1st metatarsal


Dependency on parenteral nutrition

Inability to ingest sufficient quantities of nutrition by mouth or by tube-feeding with the corresponding requirement for intravenous administration of nutrition.


Elevated brain creatine level by MRS

An increase in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).


Arcuate vein intimal mucoid edema

Accumulation of edematous extracellular matrix in the inner layer (intima) of arcuate veins of the kidney. The material resembles mucus and appears pale blue on hematoxylin and eosin staining.


Pulmonary vasculitis

Cellular inflammation, vessel destruction, and tissue necrosis of the blood vessels of the lung.


Epispadias

Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias.


Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity


Abnormal tarsal bone mineral density

This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone.


Hypernatriuria

An increased concentration of sodium(1+) in the urine.


congenital laryngeal cyst

Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia.


Increased Burr cell count

Burr cells, also known as echinocytes, have a speculated border over the entire cell surface. Burr cells are commonly found in both end-stage renal disease and liver disease. Small numbers of Burr cells are commonly found in healthy individuals.


Nut food product allergy

Hypersensitivity in form of an adverse immune reaction against nut food products.


Nevus flammeus nuchae

Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns.


Chronic cough

A persistent cough, defined as a cough lasting longer than eight weeks in adults or longer than four weeks in children.


Dysplasia of the femoral head

The presence of developmental dysplasia of the femoral head.


Very preterm birth

Birth before 32 completed weeks of gestation (28 up to but not including 32 weeks).


Dysfunction of lateral corticospinal tracts


Phenotypic abnormality

A phenotypic abnormality.


Absent axillary hair

Absence of axillary hair.


Abnormal renal pelvis morphology

An abnormality of the renal pelvis.


Aplasia/Hypoplasia of fingers

Small/hypoplastic or absent/aplastic fingers.


Dislocated radial head

A dislocation of the head of the radius from its socket in the elbow joint.


Abnormal odontoid tissue morphology

An abnormality of an odontoid tissue.


Feeding difficulties

Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.


Absent malleus

Aplasia of the malleus.


Patchy sclerosis of the middle phalanx of the 3rd finger

Uneven (irregular) increase in bone density of the middle phalanx of the third finger.


Duplication of the distal phalanx of the 5th toe

Partial or complete duplication of the distal phalanx of little toe.


Anomalous pulmonary venous return

A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood.


Abnormal CSF branched chain amino acid concentration

Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid.


Chordee

Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees.


Anti-transcription intermediary factor-1gamma antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transcription intermediary factor-1gamma.


Fractured sternum

A partial or complete breakage of the sternum.


Abnormality of circulating beta-2-microglobulin level

A deviation from the normal concentration of beta-2-microglobulin in the blood.


Abnormal atrioventricular connection

An abnormality of the circulatory connection between atria and ventricles.


Lactescent serum

Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level.


Partial duplication of the distal phalanx of the 4th finger

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


Triceps aplasia

Absence of the triceps muscle.


Absence of large von Willebrand factor multimers

Absence of large von Willebrand Factor multimers on gel electrophoresis.


Cupped ear

Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).


Decreased level of D-mannose in urine

A decrease in the level of D-mannose in the urine.


hereditary antithrombin deficiency

A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins).


Salt craving

Hypersalivation, also known as salt craving, refers to an excessive desire to consume salt (sodium chloride) or salty foods.


Proximal fibular overgrowth

Overgrowth of the proximal part of the fibula.


Abnormal peripheral nervous system physiology

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


Light-chain paraproteinemia

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


Pneumomediastinum

The presence of free air in the mediastinum.


Airway casts

A replicate of airways from accumulated and condensed mucous and cellular material. These semisolid occlusions take the shape of the airway within they are formed, leading to obstruction of the tracheobronchial tree with consecutive respiratory insufficiency. Based on their principal composition, one can differentiate fibrin casts and mucin casts. Plastic bronchitis is the name of the condition characterized by the formation of airway casts.


Expanded metacarpals with widened medullary cavities


Generalized convulsive status epilepticus

A type of bilateral convulsive seizure of generalized onset that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus.


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


Widely patent coronal suture

The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed.


Aplasia/Hypoplasia involving the musculature of the upper arm

Absence or underdevelopment of the muscles of the upper arm.


AV nodal tachycardia

A type of supraventricular tachycardia that originates in the atrioventricular node.


Impaired clot retraction

Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration.


Irregular epiphysis of the proximal phalanx of the thumb

Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. 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.


Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis

A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


Anti-CV2/CRMP5 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CV2/CRMP5. Anti-CV2/CRMP5 autoantibody is the most commonly detected anti-neuronal autoantibody. Patients with typical paraneoplastic chorea show fully developed chorea in the course of weeks to months with acute inflammation in the striatum.


Absent pigmentation of the ventral chest

Lack of skin pigmentation (coloring) of the anterior chest.


Congenital megaureter

A developmental disturbance with extreme ureteral dilatation.


Abnormal circulating amylase concentration

A deviation from the normal concentration of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.


Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve.


Pulmonary necrosis

Cellular death affecting one or more parts of the lung. Necrosis is caused by diverse external and internal factors which result in the unregulated digestion of cell components.


Duplication of the distal phalanx of the 2nd toe

Partial or complete duplication of the distal phalanx of second toe.


hypoaldosteronism disease

Abnormally low levels of aldosterone in the blood.


Elevated terminal:vellus ratio

An increased proportion of terminal hairs compared to vellus hairs.


Retrocollis

A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.


Abnormality of reproductive system physiology

An abnormal functionality of the genital system.


Low-grade fever

Mild fever that does not exceed 38.5 degrees centigrade.


Anti-GFAP antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glial fibrillary acidic protein (GFAP).


Anti-Ro52/TRIM21 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro52/TRIM21.


Shortening of all middle phalanges of the fingers

Short, hypoplastic middle phalanx of finger, affecting all fingers.


Abnormal peripheral nervous system ganglion morphology

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


Nodular pattern on pulmonary HRCT

A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter.


Decreased level of tissue plasminogen activator

The tPA protein catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis


Hypoplasia of the small intestine

Underdevelopment of the small intestine.


Delusion of control

A false belief that another person, group of people, or external force controls one's general thoughts, feelings, impulses, or behaviors.


cutaneous leiomyosarcoma

An aggressive malignant smooth muscle neoplasm, arising from the skin. It is characterized by a proliferation of neoplastic spindle cells.


Diffuse alveolar damage

Diffuse alveolar damage (DAD) describes a comon histologic injury pattern of the lung. The early stages are characterized by epithelial cell necrosis and sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli. This results in impaired gas exchange. In later stages, type II cells and myofibroblasts proliferate within the interstitium and airspaces. The corresponding clinical entity is acute respiratory distress syndrome (ARDS). DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe viral infections, acute interstial pneumonitis and crack cocaine inhalation.


Impaired distal vibration sensation

A decrease in the ability to perceive vibration in the distal portions of the limbs.


Aortic elastic fiber thinning

A thinning out of elastic fibers of the media of the aorta that creates widening of intralamellar spaces, as identified on a stain for elastic fibers.


Cone-shaped metacarpal epiphyses

A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones.


Aplasia/Hypoplasia of the clavicles

Absence or underdevelopment of the clavicles (collar bones).


EEG with spike-wave complexes (<2.5 Hz)

The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG).


fetal and neonatal alloimmune thrombocytopenia

Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a blood disorder that affects pregnant women and their babies. NAIT was first reported in the literature in 1953 and is estimated to occur in as many as 1 in 1200 live births. NAIT results in the destruction of platelets in the fetus or infant due to a mismatch between the mother's platelets and those of the baby. Certain molecules (antigens) on the surface of the baby's platelets are recognized as foreign by the mother's immune system. The mother's immune system then creates antibodies that attack and destroy the baby's platelets. Though NAIT can occur whenever the mother's blood mixes with that of the baby, it is usually triggered when the mother is exposed to the baby's blood during delivery. Many cases of NAIT are mild. Signs and symptoms may include a low platelet count (thrombocytopenia) and signs of bleeding into the skin such as petechiae and purpura. In the most severe cases, NAIT can cause bleeding episodes that may result in death or long-term disability. Bleeding episodes can occur either during pregnancy or after birth. Management of the infant with neonatal alloimmune thrombocytopenia may include platelet transfusions, ultrasounds, and intravenous immunoglobulin (IVIG). Treatment for pregnant mothers at risk for NAIT may include IVIG and steroids.


rosette-forming glioneuronal tumor of fourth ventricule

A central nervous system neoplasm mostly occurring in the fourth ventricle region. It is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. Cytologic atypia is minimal.


Wide cavum septum pellucidum

Width of the cavum septum pellucidum above the upper limit of normal, which is defined as a separation of greater than one cm of the leaves of the cavum septum pellucidum.


Tongue fasciculations

Fasciculations or fibrillation affecting the tongue muscle.


Posterolateral diaphragmatic hernia

A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity.


Motor deterioration

Loss of previously present motor (i.e., movement) abilities.


Aplasia/Hypoplasia of the middle phalanges of the toes


Abnormal circulating arginine concentration

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


Decreased serum estradiol

A reduction below normal concentration of estradiol in the circulation.


Excessive eye contact

Tendency to maintain sustained eye contact for an inappropriately long period of time.


Duplication of the proximal phalanx of the 4th toe

Partial or complete duplication of the proximal phalanx of fourth toe.


Focal emotional seizure

Seizures presenting with an emotion or the appearance of having an emotion as an early prominent feature, such as fear, spontaneous joy or euphoria, laughing (gelastic), or crying, (dacrystic). These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer.


Disseminated infection with live vaccine virus

A dissemination viral infection caused by a live attenuated vaccine virus.


Broad 4th toe

A broad appearance of the fourth toe.


Low-frequency sensorineural hearing impairment

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


Decreased immunoglobulin level in body fluid

An reduction from normal levels of immunoglobulins in body fluids, such as mucous.


Craniofacial osteosclerosis

Abnormally increased density of craniofacial bone tissue.


Abnormality of mesenteric lymph nodes

A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery.


Shoulder external rotation contracture

A type of shoulder contracture characterized by decreased internal rotation of shoulder, that is, by a chronic reduction in active and passive ability to internally rotate the humerus at the shoulder joint (if the arm is flexed at the elbow, Internal rotation of the shoulder rotates the forearm towards the center of the body).


Hawkinsinuria

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


Inferior pubic ramus hypoplasia

Underdevelopment of the lower branch of the pubis bone (inferior pubic ramus).


Broad humeral epiphyseal plate

Increased width of the humeral epiphyseal growth plate.


Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis

A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


Abnormal morphology of right ventricular trabeculae

Any structural anomaly of the muscular columns which project from the inner surface of the right ventricle of the heart (cardiac trabeculae, trabeculae carneae).


Impairment of the reflex of the tensor tympani muscle


Bile duct polyp

An elevated growth from the the mucosa of the bile duct.


Focal T2 hypointense thalamic lesion

A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus.


Increased female libido

Elevated sexual desire in female


spinal muscular atrophy

Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person.


Prominent subcalcaneal fat pad

Abnormally increased prominence of the fat pad underneath the heal. This feature can be appreciated in figure 1 of PMID:26769062.


Abnormality of the vertebral spinous processes


Elevated circulating parathyroid hormone level

An abnormal increased concentration of parathyroid hormone.


Decreased specific pneumococcal antibody level

The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci.


Chondritis of pinna

Inflammation of the cartilage of the external ear.


Iliac crest serration

Irregularities of the iliac crest that produce the appearance of a lace border around it.


Abnormal renal corpuscle morphology

Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule.


Anti-GQ1b IgM antibody positivity

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


Anti-acetylcholine receptor antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury.


Discrete 2 to 5-mm hyper- and hypopigmented macules


Polymorphic vesicular eruption

A type of vesicular eruption in which the vesicles are at different stages.


female reproductive system neoplasm

A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma.


Short uvula

Decreased length of the uvula.


Episodic flaccid weakness

Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching.


Hippocampal atrophy

Partial or complete wasting (loss) of hippocampus tissue that was once present.


Abnormal circulating T4 concentration

A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).


Schistocytosis

The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood.


Triangular epiphysis of the 1st metatarsal


EEG with changes in voltage

EEG with abnormal amplitude.


Deja vu aura

A subjective feeling that an experience which is occurring for the first time has been experienced before.


Abnormal hand morphology

Any structural anomaly of the hand.


Short forearm

Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm.


Decreased proportion of memory T cells

An abnormally reduced proportion of memory T cells compared to the total number of T cells in the blood.


Hyperactive bowel sounds

Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines.


Impairment in personality functioning

A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning.


Triangular mouth

The presence of a triangular form of the mouth.


Elevated urine keto acid level

Increased amount of a keta acid in the urine.


adenomyosis

The growth of endometrial tissue inside the muscular wall of the uterine corpus. Clinical manifestations include pain, dysmenorrhea, and menorrhagia.


cor triatriatum dexter

A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue.


Severe generalized osteoporosis

Severe degree of osteoporosis.


Aplasia of the olfactory bulb

Lack of formation (congenital absence) of the olfactory bulb.


Cardiac neurofibroma

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


Abnormal pyramidal sign

Functional neurological abnormalities related to dysfunction of the pyramidal tract.


pituitary dwarfism

Proportionately decreased bodily growth due to failure of the pituitary gland to produce an adequate supply of growth hormone.


Arcuate vein intima/media crystal accumulation

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


Abnormal quality of facial expression

Spontaneous production of communicative facial expressions that have poor quality or are exaggerated or muted.


Lacticaciduria

An increased concentration of lactic acid in the urine.


High pulse pressure

Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).


Intermittent painful muscle spasms

History of repeated intermittent involuntary muscle contractions that were painful.


Increased neutrophil mitochondria

An increased number of mitochondria detected in neutrophils.


Aplasia/Hypoplasia of the tongue

Absence or underdevelopment of the tongue.


Premature epimetaphyseal fusion in foot

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


Abnormal pulmonary artery physiology

An abnormality of the function of the pulmonary artery.


Bracket epiphysis of the distal phalanx of the 3rd toe


Moderate conductive hearing impairment

The presence of a moderate form of conductive hearing impairment.


Decreased CSF arginine concentration

Abnormally decreased levels of arginine in cerebrospinal fluid.


Focal impaired awareness emotional seizure with anger

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


Increased circulating farnesol concentration

An elevated level of farnesol in the blood circulation.


Poorly ossified cervical vertebrae

Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set.


Greater auricular nerve thickening

Increase in thickness of the great auricular nerve, a cutaneous nerve of the head. It originates from the cervical plexus, with branches of spinal nerves C2 and C3. Thickening may lead to the nerve being palpable or even visible in this region.


Coronary cameral fistula

An abnormal communication between coronary artery and a cardiac chamber.


Abnormal cardiac index

Any deviation from the normal value of the cardiac index, defined as cardiac output divided by body surface area.


Agyria

A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm.


Myofiber disarray

A nonparallel arrangement of cardiac myocytes.


Aplasia/Hypoplasia of the tibia

Absence or underdevelopment of the tibia.


Gallbladder enlargement

Abnormal increased in the thickness of the size of the gallbladder.


facial cleft

A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences.


Abnormal proportion of immature B cells

A deviation from normal proportion of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).


Abnormal intervertebral disk morphology

Any structural abnormality of the intervertebral disk.


Neonatal seizure with unilateral automatism

Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at one side of the body.


Ovarian mass

A swelling or enlargment localized to the ovary. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.


Elevated circulating short-chain acylcarnitine concentration

Concentration of short-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. Short chain acylcarnitines have between two and five carbon atoms in the acyl-chain (C2-C5),


Fusion of the left and right thalami

A developmental defect characterized by fusion of the left and right halves of the thalamus.


Abnormality of the somatic nervous system

Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements.


Abnormal ear morphology

Any structural anomaly of the ear.


Increased HDL3a concentration

An elevation above the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.


Hand muscle weakness

Reduced strength of the musculature of the hand.


Abnormal dura mater morphology

An abnormality of the Dura mater.


Periapical tooth abscess

A tooth abscess that occurs at the tip of the root (apex) of a tooth.


Gerbode ventricular septal defect

A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve.


Hypoplastic helices

Underdevelopment of the helix, i.e., of the outer rim of the pinna.


Stippling of the epiphyses of the 3rd finger

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


Abnormal circulating free fatty acid concentration

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


Usual-type tubular atrophy

A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis.


Agenesis of the small intestine

Failure to develop of the small intestine.


Progressive spasticity

Spasticity that increases in degree with time.


Increased circulating free T3

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


Fused thoracic vertebrae

A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another.


Bilateral cryptorchidism

Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.


Hand clenching

An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. In prenatal sonography of the fetal clenched hand, the index finger overlaps a clenched fist formed by the other digits. The proximal interphalangeal articulation of the index finger is flexed and ulnarly deviated, and the thumb is adducted.


Urinary bladder granulomatosis

The presence of multiple granulomas in the urinary bladder as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.


Decreased CSF glycine concentration

Abnormally decreased levels of glycine in cerebrospinal fluid.


Glomerular synechial adhesion

An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis.


Abnormal CSF serine family amino acid concentration

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


Abnormal circulating methionine concentration

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


Aplasia/hypoplasia of the uterus

Absence or developmental hypoplasia of the uterus.


Abnormality of peripheral somatosensory evoked potentials


Focal aware cognitive seizure with dyscalculia/acalculia

A focal cognitive seizure with dyscalculia and or acalculia characterized by retained awareness throughout the seizure.


Abnormality of lingual tonsil

An abnormality of a lingual tonsil.


Focal impaired awareness atonic seizure

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


Grade III preterm intraventricular hemorrhage

Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles.


Enteric intraneuronal nuclear inclusion bodies

Aggregates of stainable substances (proteins) in the nuclei of enteric neurons.


Fused nails

A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature.


46,XY sex reversal 11

Any 46,XY complete gonadal dysgenesis in which the cause of the disease is a mutation in the DHX37 gene.


Abnormal periodontium morphology

Any abnormality of the periodontium.


Dermal immune complex deposition

Accumulation of antigen-bound antibody in the skin.


Microspherocytosis

The presence of erythrocytes that are sphere-shaped and reduced in size.


myxoid liposarcoma

A liposarcoma characterized by the presence of round non-lipogenic primitive mesenchymal cells and small signet ring lipoblasts within a myxoid stoma with a branching vascular pattern. This category includes hypercellular lesions with round cell morphology, formerly known as round cell liposarcoma.


syringomyelia

Syringomyelia is characterized by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS).


Decreased plasma free carnitine

A decreased concentration of free (unbound) carnitine in the blood.


Visceral epithelial hyaline droplets

Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells.


Aplasia/Hypoplasia of the vagina

Aplasia or developmental hypoplasia of the vagina.


Decreased hepatic echogenicity

Reduced echogenicity of liver tissue on sonography, manifested as an increased amount of black on the screen of the sonography device.


Addictive methylphenidate use

Addiction to methylphenidate.


Cerebellar gliosis

Focal proliferation of glial cells in the cerebellum.


Aplasia of lymphatic vessels

Aplasia (absence) of the lymphatic vessels.


Abnormal CSF biopterin concentration

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


Unifocal splenic abscess

Single (solitary) abscess in the spleen.


Elevated circulating creatine concentration

An elevation above the normal range of creatine in the blood circulation.


Fragmentation of the epiphyses of the 4th toe


Abnormal putamen morphology

Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum.


Mottled pigmentation

Patchy and irregular skin pigmentation.


Asynergia

A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed.


Osteopathia striata

A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance.


Paramedian lip pit

Depression located paramedially on the vermilion of a lip.


Elevated amniotic fluid alpha-fetoprotein

An elevation of alpha-feto protein measured in the amniotic fluid.


Abnormal pubic bone morphology

An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (pubis, ilium, ischium) of the hip bone.


Infantile muscular hypotonia

Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.