Hemidiaphragm elevation

description: Elevated Hemidiaphragm is a condition where one portion of the diaphragm is higher than the other. Elevated hemidiaphragm occurs when one side of the diaphragm becomes weak from muscular disease or loss of innervation due to phrenic nerve injury.


Short proximal phalanx of the 2nd toe

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

description: Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia.


Fractured metatarsal bone of digit 4

description: A partial or complete breakage of the metatarsal bone of digit 4.


EEG with burst suppression

description: The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes.


Reduced antithrombin antigen

description: Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation.


Curved phalanges of the 3rd finger

description: Curved appearance of the phalanges of the 3rd finger.


name: Abnormality of the alternative complement pathway

description: A deviation in any aspect of the alternative complement pathway.


Left bundle branch block

description: A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG.


Abnormal aortic morphology

description: An abnormality of the aorta.


Hepatic sinusoidal dilatation

description: Presence of an increased amount of blood in the hepatic capillaries.


Upper lip pit

description: Depression located on the vermilion of the upper lip, usually paramedian.


Anti-Homer-3 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Homer-3.


Impaired tandem gait

description: Reduced ability to walk in a straight line while placing the feet heel to toe.


Ileocecal ulcer

description: An erosion of the mucous membrane in the region connecting the ileum and cecum.


name: Elevated circulating glutathione concentration

description: An abnormally increased level of glutathione in the blood circulation.


name: Proximal/middle symphalangism of 2nd toe

description: Bony fusion of the middle and proximal phalanges of the 2nd toe.


Anti-AK5 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-adenylate kinase 5 (AK5).


craniorachischisis

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

description: Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system.


Spasticity of facial muscles

description: Spasticity of one or more muscles innervated by the facial nerve.


name: Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger


Elevated urinary 2-oxoisocaproic level

description: The amount of 2-oxoisocaproic in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Confetti hypopigmentation pattern of lower leg skin


name: Focal EEG discharges with propagation to ipsilateral hemisphere

description: Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain.


Abnormal myocardium morphology

description: A structural anomaly of the muscle layer of the heart wall.


Elevated circulating CCL3 concentration

description: The concentration of C-C Motif Ligand 3 (CCL3) in the blood circulation is above the upper limit of normal.


Abnormal cord blood measurement

description: An abnormality in any umbilical cord measurement performed after birth, such as the blood gas level.


Webbed penis

description: Ventral skinfold extending from penis to scrotum.


name: Abnormal radioactive iodine uptake test result

description: Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.


Thickened ribs

description: Increased thickness (diameter) of ribs.


Supernumerary tracheal bronchus

description: Accessory bronchus which exits the trachea in addition to an anatomically normal branching upper lobe bronchus.


name: Elevated urine 3-methyladipic acid level

description: The amount of 3-methyladipic acid in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Abnormal extrahepatic bile duct morphology


name: Abnormality of the hip-girdle musculature


Focal automatism seizure

description: A focal seizure characterized at onset by coordinated motor activity. This often resembles a voluntary movement and may consist of an inappropriate continuation of preictal motor activity.


name: Focal autonomic seizure with pallor/flushing

description: A type of focal autonomic seizure characterized by changes of the skin as the initial semiological feature.


name: Contracture of the metacarpophalangeal joint of the 2nd finger

description: Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue.


Decreased portal vein velocity

description: A reduction in the velocity of portal venous flow, generally measured by Doppler ultrasound. Portal venous flow is normally towards the liver with peak systolic velocities in the range of 20-40 cm/s.


Curved distal phalanx of the 3rd finger

description: Curved appearance of the distal phalanx of the 3rd finger.


Incomplete cleft of the upper lip

description: Cleft of the upper lip that does not go all the way from the bottom of the upper lip until the nasal cavity.


Generalized amyloid deposition

description: A diffuse form of amyloidosis.


Abnormal seminal vesicle morphology

description: A structural abnormality of the seminal vesicle. The seminal vesicles are a pair of glands that also include the prostate gland and the bulbourethral glands and are located in the pelvis superior to the rectum, inferior to the fundus of the bladder and posterior to the prostate. The seminal vesicles contribute around 70% of the fluid that will eventually become semen.


Absent vertebral body mineralization

description: A lack of bone mineralization of the vertebral bodies.


name: Increased circulating iron concentration

description: The concentration of iron in the blood circulation is above the upper limit of normal.


name: Pigmented micronodular adrenocortical disease


Sterile arthritis

description: An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures.


name: Patchy variation in bone mineral density

description: Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays.


Increased superoxide dismutase level

description: Increased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide.


Macrozoospermia

description: Increased size of the head of sperm.


name: Abnormality of the epiphyses of the 2nd finger

description: Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger.


name: Tetralogy of Fallot with pulmonary stenosis

description: The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus.


name: Abnormal size of nasopharyngeal adenoids

description: A deviation in the size of nasopharyngeal adenoids.


Abnormal femoral artery morphology

description: Any structural abnormality of the femoral artey, a large blood vessel that provides oxygenated blood to lower extremity structures and in part to the lower anterior abdominal wall.


Localized hirsutism

description: Abnormally increased hair growth with a localized distribution.


Flight of ideas

description: Successive thoughts and speech are easily diverted by external stimuli or internal superficial associations.


Long middle phalanx of finger

description: Increased length of the middle phalanx of finger.


name: Abnormal cortical peritubular capillary morphology

description: Anomalous structure of the peritubular capillaries located in the cortex of the kidney.


Anti-DPPX antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dipeptidyl-peptidase-like protein 6 (DPPX).


name: Elevated circulating transferrin concentration

description: An abnormally increased concentration of transferrin in the blood circulation.


Acute otitis media

description: Acute otitis media is a short and generally painful infection of the middle ear.


Abnormal coronary artery course

description: An abnormal path of a coronary artery.


Neonatal epiphyseal stippling

description: The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period.


Arachnoid hemangiomatosis

description: The presence of multiple hemangiomas in the arachnoid.


Narrow nail

description: Decreased width of nail.


Plant product allergy

description: Hypersensitivity in form of an adverse immune reaction against plant products.


hydrops fetalis

description: Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility).


Status cribrosum

description: Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations.


Elbow dislocation

description: Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.


Positive cold agglutinin test

description: Cold agglutinin are erythrocyte antibodies which possess the property of agglutinating red blood cells at temperatures of below 37 degrees C, this phenomenon is reversible after heating.


name: Positive microfilaria PCR test in the blood circulation

description: Detection of nucleic acid of a microfilarial parasite in the blood circulation.


Myelin outfoldings

description: The presence of excessive redundant myelin in the peripheral nerve sheath.


Increased HDL2a concentration

description: An elevation above the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2a particle is defined as an HDL particle with a size of 8.80-9.69 nm.


name: Irregular epiphysis of the middle phalanx of the 4th toe


Aplasia of the 5th metacarpal

description: Absence of the fifth long bone of the hand.


Amplification of relationship seeking

description: Increased frequency or duration in social outings and interactions as part of relationship-seeking or maintenance compared to the previous norms of an individual.


name: Abnormal leukocyte enzyme concentration or activity

description: Concentration or activity of an enzyme as measured in leukocytes is above or below the limits of normal.


APUdoma

description: An endocrine tumor arising from an APUD cell.


Decreased serum bile acid concentration

description: A reduction in the concentration of bile acid in the blood.


Calcium channel antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels.


Bronchoconstriction

description: Tightening of smooth muscle surrounding the bronchi and bronchioles with consequent wheezing and shortness of breath.


Myocardial calcification

description: Calcium deposition in the myocardium.


Irregular epiphyses

description: An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.


Proximal limb muscle stiffness

description: Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in the proximal limb muscle.


Dysmorphic inferior cerebellar vermis

description: A structural anomaly of the inferior portion of the vermis of cerebellum.


Progressive language deterioration

description: Progressive loss of previously present language abilities.


Short middle phalanx of the 2nd toe

description: Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia.


Abnormal pulmonary situs morphology

description: An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi.


name: Contracture of the metacarpophalangeal joint of the 3rd finger

description: Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue.


Hand dimple

description: A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the hand.


Abnormality of dental structure

description: An abnormality of the structure or composition of the teeth.


name: Ground glass opacity of humeral diaphysis


name: Hyperchromasia of renal tubular epithelial cells

description: At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes.


Everted lower lip vermilion

description: An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.


Abnormal urinary guanosine level

description: The amount of guanosine in the urine, normalized for urine concentration, is outside the limits of normal.


Abnormality of temporalis muscle

description: An abnormality of a temporalis muscle.


Bethlem sign

description: Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures.


Fractured proximal phalanx of digit 2

description: A partial or complete breakage of the proximal phalanx of digit 2.


Saccular aortic arch aneurysm

description: An eccentric abnormal localized widening (dilatation) of the aortic arch that involves only a portion of the circumference of the vessel wall.


name: Contracture of the distal interphalangeal joint of the 4th finger

description: Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue.


XK aprosencephaly

description: XK aprosencephaly is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.


name: Abnormal muscle fiber protein expression

description: An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue.


Forearm undergrowth

description: Forearm shortening because of underdevelopment of one or more bones of the forearm.


Elevated urine pyridinoline level

description: An increased amount of pyridinoline in the urine.


name: Positive CSF varicella zoster virus nucleic acid test

description: Detection of Varicella zoster virus nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction.


Impacted cerumen

description: Blockage of the external auditory canal by a buildup of earwax.


Hyperconvex toenail

description: When viewed on end (with the tip of the toe pointing toward the examiner's eye) the curve of the toenail forms a tighter curve of convexity.


Simplified gyral pattern

description: An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.


Brain imaging abnormality

description: An anomaly of metabolism or structure of the brain identified by imaging.


Cerumen abnormality

description: Any anomaly of the cerumen (ear wax), the yellowish waxy substance secreted in the ear canal.


Fetal cystic hygroma

description: The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm. Increased NT refers to a measurement above the 95th centile, and the term is used irrespective of whether the collection of fluid is septated or not, and whether it is confined to the neck or envelopes the whole fetus. After 14 weeks, increased NT usually resolves, but in some cases it evolves into nuchal edema or cystic hygromas.


Recurrent singultus

description: A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc.


impacted teeth, multiple

description: The presence of multiple impacted teeth.


name: Bullet-shaped phalanges of the 5th finger

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


description: Increased mobility of one ore more metacarpophalangeal joint.


Aplasia/Hypoplasia of the breasts

description: Absence or underdevelopment of the breasts.


Elevated circulating CCL18 level

description: An increased concentration of C-C motif chemokine ligand 18 in the blood circulation.


description: A form of lactic acidemia that occurs in relation to stress or infection.


Fragmented elastic fibers in the dermis

description: Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers.


name: Abnormal circulating monocarboxylic acid concentration

description: Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation.


Shoulder girdle muscle weakness

description: The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.


Absent distal interphalangeal creases

description: Absence of the distal interphalangeal flexion creases of the fingers.


Aplasia of the vestibular nerve.

description: Absence of the vestibular nerve


Abnormal penile discharge

description: Fluid that originates from the urethra that is not urine, pre-ejaculate or semen.


Episodic ketoacidosis

description: Intermittent episodes of ketoacidosis.


Abnormality of mental function

description: Cognitive, psychiatric, or memory anomaly.


name: Renal arteriole leukocytic endoarterial hypercellularity

description: A type of renal arteriole endoarterial hypercellularity due to increased number of white blood cells (leukocytes).


Absent patellar reflexes

description: Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella.


Absent hallux

description: Aplasia of the hallux, that is, a development defect such that the big toe does not develop.


Increased intraabdominal fat

description: An abnormal increase in the amount of intraabdominal fat tissue.


name: Abnormal circulating inhibin B concentration

description: The concentration of inhibin B in the blood circulation is outside the limits of normal.


name: Bracket epiphysis of the distal phalanx of the thumb

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


name: Triangular epiphysis of the distal phalanx of the 2nd toe


Single naris

description: The presence of only a single nostril.


name: Abnormal circulating adrenocorticotropin concentration

description: An abnormal concentration of corticotropin in the blood.


name: Sclerosis of metaphyses of the upper limbs


name: Abnormal proportion of CD4+ central memory cells

description: An abnormal proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype.


Small intestinal stenosis

description: The narrowing or partial blockage of a portion of the small intestine.


name: Triangular shaped phalanges of the 5th finger

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


Toe joint contracture

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


Elevated circulating succinate

description: An increase concentration of succinate in the blood circulation.


Increased blood urea nitrogen

description: An increased amount of nitrogen in the form of urea in the blood.


Aplasia/Hypoplasia of the maxilla

description: Absence or underdevelopment of the maxilla.


name: Stippling of the epiphysis of the proximal phalanx of the 5th toe

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 5th toe.


name: Positive Dengue virus PCR test in the blood circulation

description: Detection of nucleic acid of the Dengue virus in the blood circulation by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR.


Small scaphoid

description: Underdevelopment of the scaphoid.


name: Enlarged epiphysis of the proximal phalanx of the 4th finger

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


name: Aplasia of the middle phalanx of the hand

description: Absence of one or more middle phalanx of a finger.


name: White mater abnormalities in the posterior periventricular region


adrenal medulla neoplasm

description: A neoplasm (disease) that involves the adrenal medulla.


Temporal artery giant cells

description: The presence of giant cells in the temporal artery. This is a feature of giant cell arteritis. Giant cells are multinucleated cells formed by fusion of multiple macrophages and are typically located in the intima of the arterial wall. This feature is typically demonstrated by temporal artery biopsy but other arteries may also be affected.


Aplasia of the falx cerebri

description: A developmental defect characterized by aplasia of the Falx cerebri.


Aortopulmonary collateral arteries

description: Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus.


Unossified vertebral bodies

description: A lack of ossification of the vertebral bodies.


Cone-shaped distal radial epiphysis

description: The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance.


name: Arcuate artery intima/media coagulative necrosis

description: A type of arcuate artery intima/media necrosis in which the necrotic tissue retains the outlines of the dead (necrotic) structures.


Low alkaline phosphatase

description: Abnormally reduced serum levels of alkaline phosphatase.


name: Abnormal proportion of naive CD8 T cells

description: Any abnormality in the proportion of naive CD8 T cells relative to the total number of T cells.


Pulmonary histoplasmosis

description: Infection of the lungs with Histoplasma capsulatum. Symptoms may include fever, headache, weakness, chest pain and dry cough. When imaging is done, chest radiographs may show patchy pneumonia involving one or more lobes with adenopathy of the mediastinum or hilum.


name: Atrophy/Degeneration involving the corticospinal tracts


Lunate-triquetral fusion

description: Osseous fusion of the lunate and triquetrum.


Hypoplasia of the lesser trochanter

description: Underdevelopment of the lesser trochanter.


Self-healing squamous epithelioma

description: A type of skin tumor that initially presents as a reddish macule and subsequently becomes papular, enlarged, ulcerated and ultimately heals leaving pitted scars.


name: Elevated alkaline phosphatase of hepatic origin

description: An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.


Lipoma of the tongue

description: A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue.


name: Patchy sclerosis of proximal toe phalanx

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


Bilambdoid synostosis

description: Premature synostosis of both lambdoid sutures.


Anti-Kv1.4 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the voltage-gated potassium channel Kv1.4.


Tapered distal phalanges of finger

description: A reduction in diameter of the distal phalanx of finger towards the distal end.


tracheal calcification

description: Abnormal deposits of calcium in the tracheal tissue.


Focal motor seizure with version

description: A type of focal motor seizure characterized by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation.


Abnormal isohemagglutinin level

description: An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).


Flat forehead

description: A forehead with abnormal flatness.


Abnormal CSF glucose concentration

description: A deviation from normal concentration of glucose content in the cerebrospinal fluid.


Elevated urinary glutarylglycine level

description: The amount of glutarylglycine in the urine, normalized for urine concentration, is below the lower limit of normal.


Decreased FOXP3-expressing T cell count

description: The number of T cells in peripheral blood that express FOXP3-expressing is below the lower limit of normal. This finding is determined by flow cytometry.


name: Focal impaired awareness cognitive seizure with left-right confusion

description: A focal cognitive seizure with left-right confusion characterized by impairment of awareness at some point during the seizure.


Staghorn calculus

description: Large branching stones that fill part of all of the renal pelvis and renal calyces and they can be complete or partial depending on the level of occupancy of the collecting system.


Transmantle columnar heterotopia

description: Linear heterotopia spanning from the cerebral mantle from the pia to the ependyma.


Decreased fecal pH

description: Abnormally low fecal pH, i.e., abnormal acidity of feces.


Reverse typical atrial flutter

description: A type of atrial flutter associated with rounded or bimodal positive deflections in inferior leads II, III and aVF, and a very characteristic bimodal negative wave in the shape of a W is seen in lead V1.


Oromotor apraxia

description: Oral-motor apraxia is the inability to volitionally sequence oral movements of the speech structure for nonspeech tasks in the absence of neuromuscular deficits such as paralysis or muscle weakness. Oral-motor apraxia is diagnosed when, despite intact sensory motor function an individual is unable to use these effector systems under voluntary control.


Delayed tarsal ossification

description: Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.


Sparse axillary hair

description: Reduced number or density of axillary hair.


name: Starry sky appearance on hepatic sonography

description: An abnormal echotexture visible in liver ultrasound manifesting as a diffuse hyperechoic liver echotexture with multiple, small hypoechoic lesions. The appearance is said to resemble a starry sky (multiple white spots on a dark background).


Delayed calcaneal ossification

description: Delayed maturation and calcification of the calcaneus.


Astereognosis

description: Tactile agnosia refers to the inability to recognize objects by touch, while the inability to discriminate shape and size by touch is also a related condition.


name: Elevated circulating soluble CD163 concentration

description: The concentration of Soluble CD163 in the blood circulation is above the upper limit of normal.


name: Abnormality of the humeral epiphyseal plate


Intrusion symptom

description: Unintentional re-experiencing of a traumatic event involves symptoms that typically include sensory impressions and emotional responses stemming from the trauma. These symptoms seem to lack a sense of time perspective and context.


name: Abnormal circulating leucine concentration

description: Any deviation from the normal circulation of leucine in the blood circulation.


Finger swelling

description: Enlargement of the soft tissues of one or more fingers.


Clasp-knife sign

description: Clasp-knife phenomonen refers to increased muscle tone while bending or stretching a limb, whereby there is a sudden relaxation (decrease in resistance) as the muscle continues to be streched. This phenomenon has been likened to opening a clasp knife.


Focal T2 hyperintense brainstem lesion

description: A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem.


trichilemmal cyst

description: Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous.


Enteroviral encephalitis

description: Inflamation of the brain related to infection by an enterovirus.


Ivory epiphyses

description: Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Elongated femoral neck

description: Increased length of the neck of the femur.


Bronchial wall thickening

description: Radiological appearance of increased density around the walls of a bronchus or large bronchiole. This feature is thought to be related to edema involving the bronchial wall as well as the peribronchial interstitial space. If the cross section of a bronchus is captured in a radiograph or computed tomography image, it is said to have the appearance of a donut because of the central lucency representing the airway of the bronchus surrounded by a circular region of increased density.


Absent forearm bone

description: Absence of one or more forearm bones associated with congenital failure of development.


Dull

description: Applied to pain that is dull, i.e., not severe but that continues over a long period of time.


Accessory ectopic thyroid tissue

description: Accessory ectopic thyroid tissue arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract.


Stereotypical body rocking

description: Habitual repetitive movement of the entire body, front to back or side to side.


Labial hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the upper lip.


Subpleural interstitial thickening

description: Increase in thickness of the subpleural interstitium.


name: Reduced epidermal integrin alpha6beta4 protein expression


name: Abnormal proximal ulnar epiphysis morphology

description: Any abnormality of the proximal epiphysis of the ulna.


Focal impaired awareness tonic seizure

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


name: Anti-threonyl-tRNA synthetase antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against threonyl-tRNA synthetase.


Prominence of the premaxilla

description: Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla.


Decreased incisura length

description: The length of the incisura from the upper to lower border is less than that observed in the average population.


Pulmonary mycetoma

description: A mycetoma is a discrete mass of intertwined hyphae, usually of an Aspergillus species, matted together by mucus, fibrin, and cellular debris colonizing a cavity, usually from prior fibrocavitary disease (eg, tuberculosis or sarcoidosis). A mycetoma may move to a dependent location when the patient changes position and may show an air crescent sign. CT scans may show a spongelike pattern and foci of calcification in the mycetoma.


name: Glycogen accumulation in muscle fiber lysosomes

description: An increased amount of glycogen in muscle tissue found specifically in lysosomes.


Shoulder flexion contracture

description: Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.


Irregular metacarpals

description: Irregular morphology of one or more metacarpal bones.


name: Osteolytic defects of the phalanges of the toes


name: Reduced circulating squalene concentration

description: The concentration of squalene in the blood circulation is below the lower limit of normal.


Laeden paralysis

description: The sensation of having heavy arms and legs, or feeling a heaviness in the limbs.


Exercise-induced rhabdomyolysis

description: Rhabdomyolysis induced by exercise.


Concentric hypertrophic cardiomyopathy

description: Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.


Absent proximal radial epiphyses

description: Absence of the proximal radial epiphysis.


Whooping cough

description: A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air.


Ambiguous facial expression

description: Spontaneous production of communicative facial expressions that have poor quality or are perceived as odd or mechanical. This may include inaccurate mimicry of typical facial expressions. These expressions may be difficult to interpret for someone who is not familiar with the individual making the expression.


Broad xiphoid process

description: Increased side-to-side width of the xiphoid process of the sternum.


name: Abnormal brain FDG positron emission tomography

description: An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity.


Impaired mastication

description: An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing.


name: Sclerosis of the distal phalanx of the thumb

description: An elevation of bone density in the distal phalanx of the thumb.


Tooth agenesis

description: The absence of one or more teeth from the normal series by a failure to develop


Hypoplastic pelvis

description: Underdevelopment of the bony pelvis.


name: Increased CSF alpha-aminobutyrate concentration

description: Concentration of alpha-aminobutyrate in the cerebrospinal fluid above the upper limit of normal.


Abnormal enteric ganglion morphology

description: An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow.


Abnormal KCO

description: Any deviation from the normal range of KCO. The KCO is a measurement of the rate constant for alveolar uptake of CO during breath-holding in the single breath measurement of DLCO at full inflation. The DLCO is derived as the product of the KCO and the single breath alveolar volume (VA) divided by PB-PH2O.


Abnormal CSF leucine concentration

description: Any deviation from the normal concentration of leucine in the cerebrospinal fluid.


Skin erosion

description: A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.


Tachylalia

description: Fast speech.


Limb fasciculations

description: Fasciculations affecting the musculature of the arms and legs.


Cleft mandible

description: Midline deficiency of the mandible and some or all overlying tissues.


Hypoplasia of the anterior nasal spine

description: Underdevelopment of the anterior nasal spine of maxilla.


Pulmonary artery sling

description: An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum.


Brachymetatarsus 4

description: Underdevelopment (hypoplasia) of the fourth toe.


name: Positive respiratory tract infectious agent test

description: Any kind of test for an infectious agent in the respiratory tract positive.


Papule

description: A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.


Increased airway neuroepithelial bodies

description: Presence of increased numbers of bombesin-immuno-positive neuroendocrine cell cluster (neuroepithelial bodies) in the alveolar ducts.


name: Bracket epiphysis of the proximal phalanx of the 2nd toe


Triangular nail

description: Nail so wide as long with a distal part presenting an acute angle.


name: Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger


Valinuria

description: Urine valine level above the normal range.


name: Anterior predominant thick cortex pachygyria

description: Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes.


name: Pseudoepiphysis of the proximal phalanx of the 5th toe

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


name: Decreased movement range in interphalangeal joints


name: Reduced malonyl-CoA decarboxylase activity in cultured fibroblasts

description: Acitivity of malonyl-CoA decarboxylase (EC 4.1.1.9) below the lower limit of normal in cultured fibroblasts.


Mallet finger

description: Mallet finger refers to a condition in which the end joint of a finger bends but will not straighten by itself. In this situation, the joint can be pushed straight but will not hold that position on its own.


Enlarged thalamic volume

description: An increase in the quantity of space occupied by the thalamus.


Secondary microcephaly

description: Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.


Abnormal inflammatory response

description: Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.


Onychogryposis of toenails

description: Thickened toenails.


Multilobulated spleen

description: The fetal spleen is lobulated, and these lobules normally disappear before the birth. Lobulation of the spleen may persist into adult life and be typically seen along the medial part of the spleen. A persisting lobule results in a variation in shape of the spleen.


Anterior pituitary dysgenesis

description: Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis.


Abnormal lymphatic vessel morphology

description: A structural anomaly of the vessel that contains or conveys lymph fluid.


Focal autonomic seizure with erection

description: A type of focal autonomic seizure characterized by penile erection as the initial semiological feature.


name: Contractures of the proximal interphalangeal joint of the 5th toe

description: The proximal interphalangeal joint of the fifth toe cannot be straightened actively or passively.


Low insertion of columella

description: Insertion of the posterior columella below the nasal base.


Retrognathia

description: An abnormality in which the mandible is mislocalised posteriorly.


cloacal exstrophy

description: A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations.


Mobitz type I atrioventricular block

description: A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a progressively lengthening PR interval prior to the block of an atrial impulse. (CDISC)


Elevated CSF sarcosine concentration

description: Concentration of sarcosine in the cerebrospinal fluid (CSF) above the upper limit of normal.


name: Abnormality of the autonomic nervous system

description: An abnormality of the autonomic nervous system.


Abnormal CD4:CD8 ratio

description: Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes.


Presence of xenobiotic

description: Presence of a chemical substance found within an individual that is not naturally produced or expected to be present in human tissues or bodily fluids.


Orange urine

description: An abnormal orange color of urine.


Giant somatosensory evoked potentials

description: An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials.


Absent/hypoplastic paranasal sinuses

description: Aplasia or hypoplasia of the paranasal sinuses.


name: Blood pressure substantially higher in arms than legs

description: An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the arms being much higher than the blood pressure measure in the legs. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm.


name: Increased urinary O-linked sialopeptides

description: Excretion of peptides conjugated to sialic acid in the urine.


name: Abnormality of the fontanelles or cranial sutures

description: Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments).


preauricular fistulae, congenital

description: A pit or dimple in front of the ear of a newborn is a common finding; rarely, such a dimple may get infected, which will be manifested with redness and swelling and will require medical attention.


name: Abnormality of the epiphysis of the 3rd metacarpal

description: Any abnormality of the epiphysis of the third metacarpal bone.


name: Increased proportion of CD4+CD25+ regulatory T cells

description: An abnormally increased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.


Abnormality of internal jugular vein

description: An abnormality of an internal jugular vein.


Ectopic kidney

description: A developmental defect in which a kidney is located in an abnormal anatomic position.


Myocardial lymphocytic infiltration

description: An increase in the number of lymphocytes in myocardial tissue.


name: Renal interstitial calcium phosphate deposits

description: The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits.


Abnormal fingernail morphology

description: An abnormality of the fingernails.


Anti-H2A-H2B antibody positivity

description: The presence of autoantibodies in the blood circulation that react against the H2A-H2B histone dimer.


Anal margin neoplasm

description: A tumor of the anal margin.


name: Reduced fibroblast type III procollagen synthesis

description: Diminished production of type III procollagen by cultured skin fibroblasts.


description: Decreased proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.


Absent speech

description: Complete lack of development of speech and language abilities.


name: Increased circulating beta-2-microglobulin level

description: Elevated concentration of beta-2-microglobulin in the blood.


name: Elevated urinary pyrroline hydroxycarboxylic acid level

description: The amount of pyrroline hydroxycarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal.


Abnormal sleep architecture

description: Interruptions during the various stages of sleep.


Aplasia of the phalanges of the hand

description: Absence of one or more of the phalanges of the hand.


Overgrowth

description: Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.


ovarian gonadoblastoma

description: A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites.


Reduced aromatase activity

description: Enzyme activity of aromatase below the lower limit of normal.


Abnormality of thumb phalanx

description: A structural anomaly of one or more phalanges of the thumb.


name: Linear arrays of macular hyperkeratoses in flexural areas


name: Increased circulating N-acetylaspartic acid concentration

description: Concentration of N-acetylaspartic acid in the blood circulation above the upper limit of normal.


Juvenile colonic polyposis

description: The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands.


megalencephaly

description: A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome).


polymorphic light eruption

description: A red, edematous rash that occurs on areas of the skin with recent exposure to sunlight.


Abnormal liver morphology

description: Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage.


Elevated brain glycine level by MRS

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


name: Stippling of the epiphysis of the proximal phalanx of the 4th finger

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


description: A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset.


Bronchopulmonary anastomosis

description: Abnormal arterial anastomosis (connection) between bronchial and pulmonary arteries.


Increased urinary 3-methylhistidine

description: Increased concentration of 3-methylhistidine in the urine.


Accessory cranial suture

description: A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant.


Protruding ear

description: Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).


Anteroposteriorly shortened larynx

description: Abnormal shortening of the larynx in the anteroposterior (front to back) axis.


name: Fragmentation of the epiphysis of the proximal phalanx of the 5th finger

description: Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger.


name: Anti-plasminogen binding peptide antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against plasminogen binding peptide.


Nitrituria

description: Presence of nitrites in the urine.


Increased body mass index

description: Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of overweight compared to averages.


name: Elevated circulating decanoylcarnitine concentration

description: Concentration of decanoylcarnitine (C10:0) in the blood circulation above the upper limit of normal.


name: Increased fecal coproporphyrin III:coproporphyrin I ratio

description: Abnormal relative increase in the amount of fecal coproporphyrin III as compared to coproporphyrin I in the feces.


name: Abnormal iron deposition in mitochondria


name: Abnormal superficial temporal artery morphology

description: Any structural abnormality of a superficial temporal artery, originating from the external carotid artery and passing over the zygomatic process. The superficial temporal artery is located on the superficial parts of the forehead and sides of the head and face.


name: Shortening of all middle phalanges of the toes

description: Abnormal shortening of all middle phalanges of toes.


Seafood allergy

description: Hypersensitivity in form of an adverse immune reaction against seafood.


name: Abnormal portal venous system morphology

description: Any structural anomaly of the portal venous sytem, which comprises all of the veins draining the abdominal part of the digestive tract, including the lower esophagus but excluding the lower anal canal. The portal vein conveys blood from viscera and ramifies like an artery at the liver, ending at the sinusoids. Tributaries of the portal vein, which make up the portal venous system, are the splenic, superior mesenteric, left gastric, right gastric, paraumbilical, and cystic veins.


Congenital intracerebral calcification

description: The presence of calcium deposition within brain structures that is present already at the time of birth.


Abnormal serum osmolality

description: Any deviation from the normal range of the serum osmolality, defined as the sum of the osmolalities of every single dissolved particle in the blood such as sodium and associated anions, potassium, glucose, and urea.


Axillary pterygium

description: Presence of a cutaneous membrane (flap) in the armpit.


Titubation

description: Nodding movement of the head or body.


name: Increased ratio of VWF propeptide to VWF antigen

description: An increased VWF propeptide to VWF antigen indicates that deficiency of VWF is not due to impaired synthesis but due to rapid clearance. The VWF propeptide is measured by ELISA.


name: Complete or near-complete absence of specific antibody response to tetanus vaccine

description: The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.


name: Irregular epiphysis of the distal phalanx of the 3rd toe


name: Renal interstitial globotriaosylceramide inclusions

description: Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC).


Bilateral vestibular schwannoma

description: A bilateral vestibular schwannoma (acoustic neurinoma).


Left unicoronal synostosis

description: Synostosis affecting only the left coronal suture.


Anterior wedging of T11

description: An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front).


osteoarthritis susceptibility 2

description: Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically.


name: Reduced alpha-methylacyl-CoA racemase activity in cultured fibroblasts

description: Activity of alpha-methylacyl-CoA racemase (AMACR; EC 5.1.99.4) below the lower limit of normal in cultured fibroblasts.


Knee joint hypermobility

description: The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees).


Reduced thyroxin-binding globulin

description: An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream.


name: Elevated circulating N-carbamyl-beta-aminoisobutyric acid concentration

description: The concentration of N-carbamyl-beta-aminoisobutyric acid in the blood circulation is above the upper limit of normal.


name: Amplification of emotional responsiveness

description: An increase in the tendency of a person to display emotional responsiveness or emotional empathy towards others during interpersonal interactions as compared to that person's previous norm.


Abnormal platelet granule secretion

description: Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion.


Postaxial polysyndactyly of foot

description: Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe).


Thick nasal alae

description: Increase in bulk of the ala nasi.


Abnormal metaphysis morphology

description: An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.


Pruritus on foot

description: 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 foot.


Inferior mediastinal mass

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


Antepartum hemorrhage

description: Significant maternal hemorrhage/bleed in the second half of pregnancy and prior to the birth of the baby.


Anteverted nares

description: Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).


Microsleep

description: Sudden onset of extreme drowsiness or falling asleep during the day for a short period of time.


name: Regional left ventricular wall motion abnormality

description: An abnormal motion of a segment of the left ventricle during the cardiac cycle.


Foot pain

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


Tube feeding

description: Feeding problem necessitating food and nutrient delivery via a tube.


Morbus Koehler

description: Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis.


name: Abnormal amyloid beta 42 peptide CSF concentration

description: Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta42, which is 42 amino acids in length, is the longer form.


name: Anti-liver cytosolic antigen type 1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction.


Eyelid myoclonus

description: Marked, involuntary jerking of the eyelids.


Limited ankle dorsiflexion

description: Reduced ability to move the foot up toward the shin.


Abnormal CSF arginine concentration

description: Any deviation from the normal concentration of arginine in the cerebrospinal fluid.


name: Fractured distal phalanx of manual digit 5

description: A partial or complete breakage of the distal phalanx of manual digit 5.


name: Increased susceptibility to spontaneous sister chromatid exchange

description: An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells.


piebaldism

description: Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.


name: Elevated circulating CXCL9 concentration

description: The concentration of chemokine (C-X-C motif) ligand 9 in the blood circulation is above the upper limit of normal.


Anti-mGluR1 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 1 (mGluR1).


Digestive system neoplasm

description: A tumor (abnormal growth of tissue) of the digestive system.


Prolonged prothrombin time

description: Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.


name: Elevated bronchoalveolar lavage fluid lymphocyte proportion

description: Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases.


Abnormal urine cytology

description: An anomalous finding in the examination of the urine for cells.


name: Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio

description: A decreased amount of the urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) as compared to hydroxylysyl-pyridinoline (HP, or pyridinoline PYD). Both are established biochemical markers of osteoclastic bone resorption and collagen degradation.


name: Substantia nigra hypointensity on susceptibility-weighted imaging

description: Hypointence (dark) appearance of the substantia nigra inmagnetic resonance imaging using susceptibility weighted imaging (SWI).


Amniotic Sheet

description: A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion.


Pituitary thyrotropic cell adenoma

description: A type of pituitary adenoma that produces thyroid stimulating hormone (TSH).


name: Focal impaired awareness autonomic seizure

description: A focal autonomic seizure characterized by impaired awareness at some point within the seizure.


Fractured middle phalanx of pes

description: A partial or complete breakage of the middle phalanx of pes.


name: Focal aware cognitive seizure with expressive dysphasia/aphasia

description: A focal cognitive seizure with expressive dysphasia / aphasia characterized by retained awareness throughout the seizure.


Splayed superior cerebellar peduncle

description: Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle.


Jejunitis

description: Inflammation of the lining of the middle section of the small intestine.


Elevated urinary 7-biopterin level

description: An abnormally increased amount of 7-biopterin in the urine.


name: Abnormality of umbilical vein blood flow

description: A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein.


Curved middle phalanx of the 4th finger

description: Curved appearance of the middle phalanx of the 4th (ring) finger.


Increased salivary cortisol level

description: Abnormally elevated concentration of cortisol in saliva.


name: Accumulation of muscle fiber valosin-containing protein

description: Immunohistochemistry shows accumulation of valosin-containing protein in the muscle biopsy.


name: Reduced phosphoserine phosphatase activity in cultured fibroblasts

description: Acitivity of phosphoserine phosphatase below the lower limit of normal in cultured fibroblasts.


Cementoma

description: An odontogenic tumor of the cementum of tooth.


name: Neonatal electro-clinical non-motor seizure


Neonatal sepsis

description: Systemic inflammatory response to infection in newborn babies.


Ivory epiphyses of the 3rd finger

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


Stenosis of the external auditory canal

description: An abnormal narrowing of the external auditory canal.


name: EEG with hyperventilation-induced generalized epileptiform discharges

description: Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


Tooth malposition

description: Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth.


Morbus Kienboeck

description: Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum.


Dislocated wrist

description: An injury of the wrist with displacement of any of the eight carpal bones.


Decreased body mass index

description: Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages.


name: Decreased proportion of immature B cells

description: A reduction in 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+).


Imperforate tricuspid valve

description: A tricuspid valve that has failed to open.


Heparan sulfate excretion in urine

description: An increased concentration of heparan sulfates in the urine.


name: Mild malformation of cortical development

description: A malformation of cortical development characterized by mild abnormalities of the cortex: excessive heterotopic neurons in Layer 1 or microscopic neuronal clusters or excess of single neurons of normal morphology in deep white matter.


Fatigable weakness of speech muscles

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


name: Impaired ristocetin cofactor assay activity

description: Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma.


Abnormal ejaculation

description: Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract.


Abnormal Schwann cell morphology

description: Abnormality of schwann cells, glial cells that ensheath axons of neurons in the peripheral nervous system and are necessary for their maintenance and function.


Palmoplantar blistering

description: A type of blistering that affects the skin of the palms of the hands and the soles of the feet.


Hyporeflexia of lower limbs

description: Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.


Recurrent pyelonephritis

description: Repeated episodes of pyelonephritis.


name: Elevated tissue non-specific alkaline phosphatase

description: An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.


name: Abnormal proportion of CD8-positive, alpha-beta memory T cells

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


Increased fecal heptacarboxylporphyrin

description: Abnormally high concentration of heptacarboxylporphyrin in feces.


Stridor

description: Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.


Isolated diastolic hypotension

description: A decrease in diastolic blood pressure (<60 mmHg) without a decrease in systolic blood pressure (> or = to 100 mmHg).


name: Increased proportion autoreactive unresponsive CD21-/low B cells

description: Increased proportion relative to B-lymphocytes of a subset of B lymphocytes characterized by dim/low levels of CD21, i.e., CD21-/low, in flow cytometry, and additionally enriched in autoreactive clones as determined for instance by clonse showing rheumatoid factor (anti-IgG) reactivity and antibodies recognizing cytoplasmic and to a lesser extent nuclear structures.


Elevated urinary uridine level

description: Increased levels of urinary uridine, a ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N1 glycosidic bond.


Flared upper limb metaphysis

description: The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm.


Abnormal vagina morphology

description: Any structural abnormality of the vagina.


Multiple palmar creases

description: The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease).


Hypoplastic colon

description: Underdevelopment of the colon.


name: Abnormal gastrointestinal vascular morphology


Anti-HLA-A antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-A (HLA-A).


Empty ovarian follicle

description: A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization.


Decreased diastolic blood pressure

description: Abnormal decrease in diastolic blood pressure.


name: Abnormal glucose-6-phosphate dehydrogenase level in tissue

description: An anomaly in the level of glucose-6-phosphate dehydrogenase in tissue.


name: Atrophy/Degeneration involving the spinal cord


Abnormal permanent molar morphology

description: An abnormality of morphology of permanent molar.


name: Abnormal platelet membrane protein expression

description: Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry.


name: Increased circulating interleukin 17A concentration

description: An abnormally increased concentration of interleukin 17A in the blood circulation.


Tracheobronchmegaly

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


name: Absent in utero ossification of vertebral bodies


Antistreptolysin O antibody positivity

description: The presence of antibodies in the blood circulation that react against streptolysin O.


Late inspiratory crackles

description: Crackles that appear any time after the beginning of inspiration and last till the end of inspiration.


name: Aplasia of the middle phalanges of the toes


Abnormal peroxisomal morphology

description: Structural anomaly of peroxisomes, which are small, membrane-enclosed metabolic organelles with roles in the metabolism of complex lipids and reactive ionic species.


Abnormal metatarsal morphology

description: Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes).


name: Abnormality of the middle phalanx of the 2nd finger


Cellular metachromasia

description: Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans.


Deep S wave in lead V5

description: Abnormal depth of the S wave in lead V5 of the electrocardiogram.


Curvilinear pericallosal lipoma

description: A type of pericallosal lipoma that is thin and curves around the posterior end of the splenium of the corpus callosum.


Abnormal urine sodium concentration

description: An abnormal concentration of sodium in the urine.


Non-epileptic seizure

description: Psychogenic non-epileptic seizures (PNES) are not abnormal perceptions or abnormal beliefs/judgments, nor are they epileptic attacks. They are behaviors that simulate epileptic attacks, not fully consciously.


Hypoplasia of the fallopian tube

description: Developmental hypoplasia of the fallopian tube.


Anti-factor XI antibody positivity

description: The presence of an antibody in the blood circulation that is directed against factor XI.


Abnormal number of vertebrae

description: A deviation from the normal number of vertebrae in the spinal column.


Decreased glomerular filtration rate

description: An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.


Coarsened hepatic echotexture

description: The appearance of the liver in sonographic images is normally uniform. This term applies when there is an irregular or non-uniform appearance of the liver parenchyma in liver sonography.


name: Triangular epiphysis of the proximal phalanx of the thumb

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


Abnormal metabolic brain imaging by MRS

description: An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS).


name: Osteolytic defects of the distal phalanx of the 2nd toe


name: Bullet-shaped phalanges of the 2nd finger

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


name: Elevated circulating sitosterol concentration

description: An increased concentration of beta-sitosterol in the blood circulation.


Bone arteriovenous malformation

description: An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in a bone.


Molar incisor malformation

description: Molar incisor malfomation (MIM) is composed of normal crown with marked cervical constriction, thin, narrow short roots which is a combination of signs that occurs in deciduous and permanent molars.


Tension-type headache

description: A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs.


name: Absence of CD4-positive, CD25-positive regulatory T cells

description: Lack of CD4+CD25+ T regulatory cells.


Aplasia/Hypoplasia of the pubic bone

description: Absence or underdevelopment of the pubic bone.


name: Triangular shaped proximal phalanx of the 4th finger

description: Triangular shaped proximal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


name: Elevated circulating ghrelin concentration

description: The concentration of ghrelin in the blood circulation is above the upper limit of normal. Ghrelin is a 28-amino-acid peptide predominantly secreted in the stomach and stimulates appetite and growth hormone (GH) release.


name: Abnormal tricuspid valve annulus morphology

description: Any structural anomaly of the annulus of the tricuspid valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.


Severe Epstein Barr virus infection

description: An unusually severe Epstein Barr virus (EBV) infection.


Penile corporal blood gas ischemia

description: Partial pressure of oxygen (pO2) in cavernous blood of the penis is below the lower limit of normal.


basal encephalocele

description: Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares.


Synostosis of carpals/tarsals

description: The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus.


Intrascapular pain

description: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the area between the shoulder blades.


Anti-desmoglein-1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-1, a dermal cell adhesion molecule.


Alkaline urine

description: Urine pH of 8 or higher.


Anterior tibial bowing

description: An abnormal anterior bending or curvature of the tibia.


Hoarse voice

description: Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.


name: Bullet-shaped distal phalanx of the hallux

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


name: Decreased specific antibody response to protein-conjugated polysaccharide vaccine

description: A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination.


Milia

description: Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.


name: Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration

description: A type of focal autonomic seizure characterized by changes in respiratory rate as the initial semiological feature.


name: Increased groin pigmentation with raindrop depigmentation


Fractured knee

description: A partial or complete breakage of the knee.


name: Impaired renal tubular reabsorption of sodium

description: Increased fractional excretion (FE) of sodium in the urine. The FE of sodium is the percentage of the sodium filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine sodium, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption.


name: Increased proportion of central memory CD4-positive, alpha-beta T cells

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


Positive hair barbiturate test

description: Detection of barbiturate metabolites such as phenobarbital in the hair.


aneurysm of sinus of Valsalva

description: Sinus of Valsalva aneurysm (SVA) is a rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.


Increased circulating trypsinogen

description: An abnormally high concentration of trypsinogen in the blood circulation.


name: Fractured middle phalanx of manual digit 5

description: A partial or complete breakage of the middle phalanx of manual digit 5.


Medullary peritubular capillaritis

description: Inflammation of the peritubular capillaries in the medulla of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells.


Hypothreoninemia

description: A decreased amount of threonine in the blood.


name: Renal interstitial eosinophil infiltration

description: Increased numbers of eosinophils in the interstitial tissues of the kidney.


Egg allergy

description: Hypersensitivity in form of an adverse immune reaction against eggs.


telogen effluvium

description: A scalp hair loss condition characterized by excessive shedding of hair in the resting phase of growth, usually following a fever or major body stress.


name: Osteolytic defect of the distal phalanx of the thumb

description: Dissolution or degeneration of bone tissue of the distal phalanx of the thumb.


Perifollicular fibroma

description: Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle.


name: Total absence von Willebrand factor multimers

description: Complete absence of all von Willebrand factor multimers.


description: Increased proportion of immature gamma-delta T cells relative to the total number of T cells.


Increased incisura width

description: Breadth of the incisura from the anterior to posterior border greater than that observed in the average population.


Decreased osteoclast count

description: Decreased number of osteoclasts in bone tissue.


Neoplasm of the outer ear

description: A tumor (abnormal growth of tissue) of the outer ear.


name: Abnormalities of placenta or umbilical cord

description: An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta).


name: Arcuate vein medial/intimal coagulative necrosis

description: A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.


Arcuate artery intima/media necrosis

description: Death of tissue in the inner or middle layer of the arcuate artery of the kidney.


Generalized-onset motor seizure

description: A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.


Tibial torsion

description: Twisted position of the tibia (shin bone) associated with pathological rotation of the leg.


Elevated urine hyaluronic acid level

description: Excessive amount of hyaluronic acid in urine.


name: Absent epiphysis of the proximal phalanx of the 3rd toe


name: Pachygyria with 5-10 mm cortical thickness

description: Pachygyria with a mildly thickened cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age.


thyroglossal duct cyst

description: A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck.


Intratubular hemoglobin casts

description: A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On H&E (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A.


name: Anomalous muscle bundle of the right ventricle

description: An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract.


Increased CSF arginine concentration

description: Abnormally increased levels of arginine in cerebrospinal fluid.


Reduced muscle dystrophin expression

description: A decreased amount of dystrophin in muscle fiber tissue.


Pure ground-glass pulmonary nodule

description: Pure ground-glass pulmonary nodules (GGNs) are defined as focal nodular areas of increased lung attenuation through which lung parenchymal structures, such as the pulmonary vessels or bronchial structures, can be observed.


Abnormal arcuate vein morphology

description: Any structural anomaly of the arcuate vein. The arcuate veins cross traverse along the corticomedullary junction (at the border of the kideny cortex and medulla).


Bronchial breath sound

description: Bronchial breath sounds contain much higher frequency components than normal breath sounds due to alteration of the low pass filtering function of the alveoli, as occurs in consolidation. It is loud, hollow, and high pitch. Expiratory phase is longer than inspiratory phase with the inspiratory-expiratory ratio (I:E) changing from normal 3:1 to 1:2. There is distinct pause between inspiration and expiration due to absent alveolar phase. It is associated with whispering pectoriloquy.


Peg-shaped maxillary lateral incisors

description: A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter


Abnormal pulmonary fissure count

description: A deviation from the normal number of pulmonary fissures.


description: Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells.


name: Elevated CSF alpha-crystallin B chain concentration

description: The concentration of alpha-crystallin B chain in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Abnormality of thumb epiphysis

description: Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal.


name: Thyroid defect in oxidation and organification of iodide


Multiple small medullary renal cysts

description: The presence of many cysts in the medulla of the kidney.


Elevated urinary guanosine level

description: The amount of guanosine in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Renal arteriolar lumen cholesterol emboli

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


Sparse scalp hair

description: Decreased number of hairs per unit area of skin of the scalp.


name: Decreased proportion of CD8-positive, alpha-beta TEMRA T cells

description: An decreased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.


EMG: myopathic abnormalities

description: The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.


name: Focal impaired awareness motor seizure with dystonia

description: A focal motor seizure with dystonia characterized by impaired awareness at some point during the seizure.


name: Abnormal circulating dehydroepiandrosterone concentration

description: A deviation from the normal concentration of dehydroepiandrosterone in the circulation.


name: Decreased circulating complement component 1s concentration

description: The concentration of complement component 1s (C1s) in the blood circulation is below the lower limit of normal.


Impaired continence

description: Partial or total incontinence of bowel or bladder.


Fluctuations in consciousness

description: Changes in one's level of awareness and responsiveness to their environment.


Myocardial multinucleated giant cells

description: The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin.


Abnormality of nasal musculature

description: An abnormality of the muscles of the structure of the nose.


Supernumerary cusp

description: Additional cusps of a dental crown.


Agenesis of canine

description: Agenesis of canine tooth.


Curved 3rd toe phalanx

description: A deviation from the normal straight form of one or more phalanges of the third toe.


name: Small epiphysis of the middle phalanx of the 2nd finger


name: Fragmentation of the epiphyses of the 2nd toe


Abdominal colic

description: A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity.


Posterior plagiocephaly

description: Asymmetry of the posterior part of the skull.


Attached earlobe

description: Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward.


name: Extracranial internal carotid artery dissection

description: A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall.


Vaginal myxoma

description: A myxoma (tumor of primitive connective tissue) localized in the vagina.


name: Bullet-shaped middle phalanx of the 3rd toe

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


name: Neonatal electro-clinical autonomic seizure

description: Neonatal electro-clinical non-motor autonomic seizure is a type of neonatal electro-clinical seizure with predominant features of autonomic alterations, involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor, and thermoregulatory functions. May present as apnea.


Nasal secretion eosinophilia

description: Count of eosinophils in nasal secretions (for instance, nasal discharge) above the upper limit of normal.


name: Aplasia/hypoplasia of the uterine cervix

description: Congenital absence or underdevelopment of the uterine cervix.


Increased circulating IgM level

description: An abnormally increased level of immunoglobulin M in blood.


Palmar telangiectasia

description: The presence of telangiectases on the skin of palm of hand.


Abnormal protein glycosylation

description: An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins.


Mild expressive language delay

description: A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.


Myotonia of the face

description: Slowed relaxation of muscles in the face.


name: Triangular epiphyses of the middle phalanges of the hand


Slender proximal phalanx of finger

description: Reduced diameter of the proximal phalanx of finger.


Impaired ability to dress oneself

description: This applies to an individual who needs help with dressing or needs to be completely dressed.


name: Abnormal morphology of the cortex of the humerus

description: Any abnormality affecting the cortex of the humerus.


name: Anti-SUMO-activating enzyme subunit 1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 1.


Velamentous cord insertion

description: Insertion of the umbilical cord into the chorio-amniotic membranes of the placenta.


Morphea

description: Isolated patches of hardened skin (scleroderma).


name: Reduced hepatic ornithine transcarbamylase activity

description: Activity or concentration of ornithine transcarbamylase in the liver below the lower limit of normal.


Frey syndrome

description: An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with parotid neoplasms, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5)


Altman type II sacrococcygeal teratoma

description: A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component.


Generalized amyotrophy

description: Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.


Abnormality of redox activity

description: An abnormality of the processes that maintain the redox environment of a cell or compartment within a cell, that is, the balance between reduction and oxidation chemical reactions.


name: Abnormal metacarpophalangeal joint morphology

description: An anomaly of a metacarpophalangeal joint.


Abnormality of spinal facet joint

description: An anomaly of the small joints located between and behind adjacent vertebrae.


polyp of ureter

description: A polyp that involves the ureter.


Anti-H2B antibody positivity

description: The presence of autoantibodies in the blood circulation that react against histone H2B.


Sneeze

description: A sudden violent, spasmodic, audible expiration of breath through the nose and mouth.


Cystic angiomatosis of bone

description: Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping.


Mask-like facies

description: A lack of facial expression often with staring eyes and a slightly open mouth.


Choking episodes

description: Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing.


Axillary freckling

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


Abnormal iliac wing morphology

description: An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally.


Intestinal bleeding

description: Bleeding from the intestines.


Achilles tendon contracture

description: A contracture of the Achilles tendon.


name: Symphalangism affecting the phalanges of the hand

description: Fusion of two or more phalangeal bones of the hand.


Decreased muscle lipoic acid content

description: Reduced amount of lipoic acid in muscle tissue.


name: Fragmentation of the epiphyses of the 5th finger

description: Fragmented appearance of the epiphyses of the 5th finger.


Reduced factor XIII activity

description: Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot.


Anhydramnios

description: A complete or near-complete lack of amniotic fluid surrounding a fetus. This finding can be observed sonographically in the third trimesters if the deepest pocket of amniotic fluid is less than or equal to 2 cm.


Hyperplasia of the premaxilla

description: An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures.


Broad foot

description: A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.


Violet lip discoloration

description: An alteration of the color of the lip to take on a violet color. This term does not include cyanosis.


Naevus flammeus of the eyelid

description: Naevus flammeus localized in the skin of the eyelid.


name: Reduced holocarboxylase synthetase activity in cultured fibroblasts

description: Concentration or activity of holocarboxylase synthetase (EC 6.3.4.10) as measured in cultured fibroblasts is below the limits of normal.


name: Elevated circulating apolipoprotein A-II concentration

description: An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism.


Curved proximal phalanx of the thumb

description: A deviation from the normal straight shape of the proximal phalanx of the thumb.


name: Arcuate artery intima/media liquefactive necrosis

description: A type of arcuate artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.


Dilatation of the ductus arteriosus

description: Ductus arteriosus aneurysm (DAA) is a saccular dilatation of the ductus arteriosus. DAA can be either congenital or acquired (e.g. as a complication of surgical closure of a patent ductus arteriosus). Although the majority of patients with congenital DAA are asymptomatic and have a benign course, severe complications, such as rupture or thromboembolism, can occur. DAA is likely to emerge in the third trimester from the aortic junction of the DA, extending towards its pulmonary end.


Morbilliform rash

description: An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days.


name: Elevated circulating apolipoprotein E concentration

description: Concentration of apolipoprotein E above the upper limit of normal.