Abdominal rigidity

description: Involuntary tightening of the abdominal musculature that occurs in response to touching the abdomen to avoid pain. Rigidity can occur in the presence of abdominal inflammation and usually involves only the inflamed area.


name: Increased non-HDL cholesterol concentration

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

description: Increase above normal levels of non-HDL cholesterol in the blood. Non-HDL cholesterol is total cholesterol minus high-density lipoprotein HDL-cholesterol (high-density lipoprotein-cholesterol).


Polyclonal elevation of circulating IgG

description: An increase in polyclonal immunoglobulins resulting from many different plasma cells. On serum electrophoresis, a polyclonal gammopathy is characterized by a broad diffuse band with one or more heavy chains and kappa and lambda light chains.


name: Triangular shaped phalanges of the 2nd toe


Splenopancreatic fusion

description: Fusion of the pancreatic tail and spleen.


name: Favorable response of weakness to acetylcholine esterase inhibitors

description: Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.


Hearing abnormality

description: An abnormality of the sensory perception of sound.


Cerebral contusion

description: A contusion is a region of injured tissue in which blood capillaries have been ruptured without laceration (bruise). Brain contusions are bruises of the cortical surface that damage the surface from the outside inward, producing disruption of tissue and vessels. The term cerebral contusion describes the pathology of focal necrosis and hemorrhage, typically observed in older children, involving particularly cerebral cortex and subcortical white matter. Such lesions are usually found in coup and contrecoup, as well as inferior orbital, frontal, and temporal locations. Cerebral contusions cause permanent damage to tissues of the cerebrum. The etiology of cerebral contusion is trauma to the head.


split foot

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

description: A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.


Hamartoma of tongue

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


name: Increased sulfur amino acid level in urine

description: An elevated level of a sulfur-containing amino acid in the urine.


name: Osteolytic defects of the proximal phalanx of the 2nd finger

description: Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger.


Anti-Ki antibody positivity

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


name: Focal aware cognitive seizure with forced thinking

description: A focal cognitive seizure with forced thinking characterized by retained awareness throughout the seizure.


Perianal anethesia

description: Loss of sensation to the area of buttocks, perianal space and thighs.


EEG with parietal focal spike waves

description: EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.


Craniofacial asymmetry

description: Asymmetry of the bones of the skull and the face.


Abnormal blood carbon dioxide level

description: An abnormality of carbon dioxide (CO2) in the arterial blood.


Ankle clonus

description: Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.


Decreased serum estriol

description: A reduction below normal limits of estriol in the circulation.


Agenesis of permanent teeth

description: A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.


name: Neonatal seizure with electrographic correlate

description: Neonatal seizure is a seizure type that occurs in neonatal period and is characterized by an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end. This event can be associated or not with a clinical manifestation.


Arcuate artery intima/media amyloidosis

description: Amorphous extracellular substance in the inner or middle layer of the arcuate arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy.


Partial IgA deficiency

description: Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means.


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


Abnormal tricuspid valve morphology

description: Any structural anomaly of the tricuspid valve.


Antenatal intracerebral hemorrhage

description: Cerebral hemorrhage that occurs before birth.


Hypoplasia of the calcaneus

description: Underdevelopment of the heel bone.


Fractured ankle

description: A fracture or multiple fractures of one or more of three bones in the ankle joint: the tibia (shinbone), the fibula (outer ankle bone), and the talus (which is the bone that connects your leg to your foot).


Shortened sleep phase

description: A tendency to sleep fewer hours than usual while feeling well-rested.


Projectile vomiting

description: Vomiting that ejects the gastric contents with great force.


Elevated urinary succinylacetone level

description: Presence in the urine of succinylacetone, which is one of the toic block metabolites formed in tyrosinaemia type 1 because of a defect in the final enzyme of the pathway of the degradation of tyrosine, namely fumarylacetoacetase (FAH, EC 3.7.1.2).


Increased circulating renin level

description: An increased level of renin in the blood.


Jejunal 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 the jejunum.


Right ventricular aneurysm

description: A localized, abnormal dilation or bulging of a portion of the right ventricular wall.


Aplasia of the upper vagina

description: A failure to develop of the upper vagina.


Supraglottic hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, located in the upper part of the larynx (voice box) including the epiglottis; the area above the vocal cords.


Citrullinuria

description: An increased concentration of citrulline in the urine.


Abnormal preputium morphology

description: An abnormality of the retractable fold of skin that covers the tip of the penis.


aortic atherosclerosis

description: A atherosclerosis that involves the aorta.


Toe dactylitis

description: Toes appear swollen and plump owing to inflammation of the complete toe.


name: Elevated circulating plasminogen activator inhibitor 1 activity

description: The activity or concentration of plasminogen activator inhibitor-1 in the blood circulation is above the upper limit of normal.


Fused lips

description: Lack of separation of the upper and lower lips.


name: Abnormal morphology of the olfactory bulb

description: An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell.


Bullet-shaped 4th toe phalanx

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


Anti-Septin-5 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Septin-5.


Floating gallbladder

description: An abnormal configuration in which the gallbladder is pedunculated, hanging free of the liver, and attached only by the cystic mesentery,


Delayed ability to crawl

description: A failure to achieve the ability to crawl at an appropriate developmental stage. Normal infant motor development is marked by a series of postural milestones including learning to crawl on hands and knees between the ages of 6 and 10 months.


Perivascular fibrosis

description: The presence of thick collagen bundles around blood vessels, often in an onion-skin type whorling pattern.


name: Impaired histidine renal tubular absorption


Intra-epidermal blistering

description: A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleavage occurs in the basal layer, which is the innermost layer of the epidermis and consists of a single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate and thereby produce new cells for other epidermal layers. As the cells move towards the upper layers of the epidermis they mature and eventually form cornified cells. The suprabasal cell layer lies directly above the basal layer and is composed of five to ten layers of cells.


Spinal rigidity

description: Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.


Beau's lines

description: A nail dystrophy that is preseents as grooved lines that run from side to side on the fingernail or the toenail that may look like indentations or ridges on the nail plate. They are caused by temporary disruption in the growth of proximal nail matrix. Trauma is usually the initiating factor such as infections, severe medical illnesses, major surgery/anesthesia, medication side effects, and autoimmune disease.


Abnormal neck physiology

description: Any functional anomaly of the neck region.


Cholesterol crystalluria

description: The presence of cholesterol crystals in the urine.


Delusional atmosphere

description: Experience everything around them as sinister, portentous, uncanny, and peculiar in an indefinable way. They know that they are personally involved but cannot tell how. They have a feeling of anticipation, sometimes even excitement, that soon all the separate parts of their experience will fit together to reveal something immensely significant.


Scapuloperoneal amyotrophy

description: Muscular atrophy in the distribution of shoulder girdle and peroneal muscles.


name: Abnormal pulmonary valve cusp morphology

description: Any structural anomaly of the pulmonary valve leaflets.


name: adnexal spiradenoma/cylindroma of a sweat gland

description: A benign sweat gland neoplasm usually occurring in the scalp or the face. It may present as solitary or multiple papular or nodular lesions. It may be a sporadic lesion or part of Brooke-Spiegler syndrome. It arises from the dermis and has a multinodular, circumscribed appearance. The nodules contain basaloid cells with small, dark nuclei. Complete excision is usually curative.


Absent fetal nasal bone

description: The nasal bone is considered absent when it is not visualized on a midsagittal view of the profile. In the second trimester, a true midsagittal view of the fetal profile is obtained and magnified to fill the majority of the image space. The nasal bone appears as an echogenic linear structure below the skin edge. The optimal angle of insonation is 45 degrees to the longitudinal axis of the fetal nasal bone. If the angle of insonation is 0 or 180 degrees, the nasal bone may appear artificially absent. The presence or absence of the nasal bone may be determined at the time of the 11- to 14-week ultrasound examination and used as part of the risk assessment for aneuploidy.


name: Osteolytic defects of the middle phalanx of the 3rd toe


name: Anti-phosphatidyl serine antibody positivity

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


name: Increased stool urobilinogen concentration

description: An increased amount of urobilinogen present in the stool.


name: Decreased circulating 7-dehydrocholesterol concentration

description: Concentration of 7-dehydrocholesterol in the blood circulation below the lower limit of normal.


Curved distal toe phalanx

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


uterine corpus leiomyoma

description: A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


Abnormality of the chin

description: An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw.


name: Focal necrosis of right ventricular muscle cells


Anti-proteinase 3 antibody positivity

description: The presence of autoantibodies in the blood circulation that react against proteinase 3. Proteinase 3 (PR3) antigen is a 29-kD serine protease that exists as a protein triplet in human neutrophils


name: Abnormal tissue metabolite concentration

description: Any deviation from the normal concentration of a metabolite in a tissue.


Shawl sign

description: Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back.


Leukocyte cylindruria

description: Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine.


Absent cavum septum pellucidum

description: The cavum septum pellucidum (CSP) is an important fetal midline forebrain landmark that is normally visible by prenatal sonography. This term refers to the lack of visiblity of the CSP on prenatal sonography. The CSP normally can be visualized between 18 and 37 weeks of gestation. Lack of visualization of the CSP in this time period generally requires follow up and may indicate the presence of underlying malformations such as malformations of the corpus callosum. The lack of CSP before 18 weeks or after 37 weeks of gestation (or postnatally) is considered a normal finding.


Abdominal mass

description: An abnormal enlargement or swelling in the abdomen.


Abnormal CSF alanine concentration

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


name: Abnormal arcuate artery intima/media morphology

description: Anomalous structure of the inner or middle layer of the arc-shaped arteries located at the border of the renal cortex and renal medulla.


Extractable nuclear antigen positivity

description: The presence of autoantibodies in the serum that react against extractable nuclear components that are referred to as extractable because they can be extracted from cell nuclei with saline solution.


Single coronary artery origin

description: The presence of a single coronary artery ostium from which both coronary arteries arise.


name: EEG with central epileptiform discharges

description: Focal epileptiform EEG discharges recorded in the central region.


Sleep-wake inversion

description: A reversal of sleeping habits, with a tendency to sleep during the day and be awake at night.


name: Symphalangism affecting the distal phalanx of the hallux


Elevated erythrocyte sedimentation rate

description: An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.


Hyperconvex fingernails

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


name: Increased circulating androstenedione concentration

description: Increased concentration of androstenedione in the blood circulation.


Hypoplastic female external genitalia

description: Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris).


Reduced plasma cell count

description: An abnormally low number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.


Elevated plasma citrulline

description: An increased concentration of citrulline in the blood.


name: Elevated urinary 2'-deoxyadenosine level

description: The amount of 2'-deoxyadenosine (dAdo) in the urine, normalized for urine concentration, is above the upper limit of normal.


Spleen hamartoma

description: A hamartomatous lesion (benign focal lesions composed of disorganized tissue elements) localized in the spleen.


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


Abnormal form of the vertebral bodies

description: Abnormal morphology of vertebral body.


Elevated urine suberic acid level

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


name: Aplasia/Hypoplasia of the phalanges of the 3rd toe


Thin skin

description: Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.


name: Abnormal sensory nerve conduction velocity


name: Increased bone density with cystic changes


Coffee ground vomitus

description: Vomit that has the appearance of coffee grounds, which occurs due to the presence of coagulated blood in the vomit.


name: Partial duplication of the distal phalanx of the 3rd finger

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


Uterine adenofibroma

description: A rare benign mullerian mixed tumor of the uterus composed of benign epithelial and mesenchymal components.


name: Elevated circulating S-adenosyl-L-homocysteine concentration

description: Increased concentration of S-adenosyl-L-homocysteine in the blood circulation.


name: Agenesis of primary maxillary central incisor

description: Agenesis of upper central primary incisor.


Abnormal renal physiology

description: An abnormal functionality of the kidney.


Abnormal thyroid morphology

description: A structural abnormality of the thyroid gland.


name: Osteolytic defects of the distal phalanges of the hand


Diffuse telangiectasia

description: Telangiectases (small dilated blood vessels) with a diffuse localization.


Abnormal fifth toe morphology

description: An anomaly of the little toe.


Glomerular extracapillary fibrin

description: Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina.


Grade II vesicoureteral reflux

description: Vesicoureteral reflux into a non-dilated pyelocalyceal system.


Duodenal aganglionosis

description: A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum.


epidermal appendage tumor

description: A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands.


drug dependence

description: Drug dependence - replaced the term "drug addiction" and is defined as a state, psychic and sometimes also physical, resulting from the interaction between a living organism and a drug, characterized by behavioral and other responses that always include a compulsion to take the drug on a continuous or periodic basis in order to experience its psychic effects, and sometimes to avoid the discomfort of its absence. Tolerance may or may not be present. A person may be dependent on more than one drug.


name: Abnormal circulating alpha-fetoprotein concentration

description: Concentration of alpha-fetoprotein in the blood circulation outside normal limits.


name: Curved linear dimple below the lower lip


Decreased CSF biopterin level

description: Concentration of biopterin in the cerebrospinal fluid (CSF) below the lower limit of normal.


name: Increased esterified to free carnitine ratio

description: An elevated ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.


name: Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole

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


Fractured distal phalanx of manus

description: A partial or complete breakage of the distal phalanx of manus.


name: Increased urine proteinogenic amino acid derivative level

description: An elevated urine level of a compound that is derived from an amino acid.


Pain in penis

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


name: Benign neoplasm of the central nervous system

description: A neoplasm that arises from the central nervous system and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.


name: Focal sensory seizure with gustatory features

description: A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation.


Delusion of love

description: A delusion (a fixed false belief held despite evidence to the contrary) of being loved by another person, even though there is no evidence of this, and the person in question denies it.


Bipedal edema

description: A palpable swelling in both feet and ankles caused by an increase in interstitial fluid volume (excess fluid).


name: Contracture of the distal interphalangeal joint of the 3rd toe

description: The distal interphalangeal joint of the 3rd toe cannot be straightened actively or passively.


Hypoplastic fingernail

description: Underdevelopment of a fingernail.


tympanosclerosis

description: The formation of dense connective tissue in the tympanic membrane that does not necessarily cause or lead to loss of hearing.


Visceromegaly

description: Abnormal increased size of the viscera of the abdomen.


name: Abnormal circulating non-proteinogenic amino acid concentration

description: Any deviation from the normal concentration in the blood circulation of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.


Fractured distal epiphysis of radius

description: A partial or complete breakage of the distal epiphysis of radius.


Abnormality of nail color

description: An anomaly of the color of the nail.


Abnormal bronchial artery morphology

description: Any structural abnormality of a bronchial artery.


name: Elevated circulating apolipoprotein B concentration

description: Increased circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100.


name: Elevated circulating methionine sulfoxide concentration

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


Abnormality of the calf

description: An abnormality of the calf, i.e. of the posterior part of the lower leg.


Episodic upper airway obstruction

description: Intermittent episodes of increased resistance to the passage of air in the upper airway.


name: Patchy sclerosis of the proximal phalanx of the 3rd finger

description: Uneven (irregular) increase in bone density of the proximal phalanx of the third finger.


name: Abnormality of the vestibulocochlear nerve

description: Any structural anomaly of the vestibulocochlear nerve. The vestibulocochlear nerve consists of the vestibular and cochlear nerves, also known as cranial nerve eight (CN VIII). Each nerve has distinct nuclei within the brainstem. The vestibular nerve is primarily responsible for maintaining body balance and eye movements, while the cochlear nerve is responsible for hearing.


name: Patchy sclerosis of the middle phalanx of the 5th finger

description: Patchy increase in bone density of the middle phalanx of the 5th finger.


tarsal coalition

description: Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).


Thalamic hypometabolism in FDG PET

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


Clicking tinnitus

description: A type of tinnitus that presents as clicks, resembling the noise made by the snapping together of 2 fingers.


Urethral diverticulum

description: The presence of a diverticulum (sac or pouch) in the wall of the urethra.


Sclerosis of proximal toe phalanx

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


Fetal cerebellar hemisphere hemorrhage

description: A type of fetal intracranial hemorrhage that occurs in the hemisphere of the cerebellum.


name: Abnormal umbilical artery doppler waveform during pregnancy

description: Abnormal waveforms the Doppler sonographic examination of bloodflow in the umbilical artery. vUmbilical arterial Doppler assessment is used in surveillance of fetal health in the third trimester.


ainhum

description: Spontaneous autoamputation of a digit, usually the fifth toe. It results from the formation of a fibrotic band which constricts the full radius of the digit and eventually causes the spontaneous autoamputation.


Neonatal unilateral epileptic spasm

description: Neonatal unilateral epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs at one side of the body.


Chronic intestinal candidiasis

description: Persistent overgrowth of Candida albicans in the gastrointestinal tract.


name: Abnormal circulating short-chain fatty-acid concentration

description: Any deviation from the normal concentration of a short-chain fatty acid in the blood circulation.


Adrenocorticotropic hormone excess

description: Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex.


severe combined immunodeficiency

description: Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.


name: Abnormal serum insulin-like growth factor 1 level

description: An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation.


Isometric tremor

description: An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist).


Addictive benzodiazepine use

description: Addiction to a benzodiazepine.


Interlobular vein medial atrophy

description: Atrophy (wasting, decreased thickness) of the medial layer pf the interlobular veins of the kidney.


name: Abnormal glomerular capillary morphology

description: A structural anomaly of the capillary blood vessels in the renal glomerulus.


High-output congestive heart failure

description: A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others.


Lumbar kyphosis

description: Over curvature of the lumbar region.


name: Axillary and groin hyperpigmentation and hypopigmentation


lymphangiectasis

description: Dilatation of the lymphatic vessels.


name: Renal interstitial xanthogranulomatous inflammation

description: Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells.


subcortical band heterotopia

description: A developmental brain abnormality characterized by atypical migration of neurons during cortical development.


Supraventricular arrhythmia

description: A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm.


Partial beta-EEG

description: EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz).


name: EEG with centrotemporal focal spike waves

description: EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.


Abnormal caudate nucleus morphology

description: Any structural abnormality of the caudate nucleus.


Non-midline cleft of the upper lip

description: Clefting (gap or groove) of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region.


Ridged fingernail

description: Longitudinal, linear prominences in the fingernail plate.


Hypoplasia of the ovary

description: Developmental hypoplasia of the ovary.


Lhermitte-Duclos disease

description: Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.


Increased urinary cortisol level

description: Abnormally increased concentration of cortisol in the urine.


Shoulder dystocia

description: Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex.


Overfriendliness

description: A form of hypersociability that presents as mostly inappropriate friendliness towards others.


Short distal phalanx of toe

description: Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe.


Abnormal factor VIII activity

description: A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.


mesocardia

description: Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane.


leukodystrophy

description: Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems.


Fractured proximal phalanx of manus

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


name: Decreased circulating corticosterone level

description: An abnormally reduced concentration of corticosterone in the blood.


Increased scrotal rugation

description: Increased number or density of the folded ridges (wrinkles) of skin of the scrotum.


Decreased vigilance

description: A decrease in the ability to maintain sustained attention is characterized by reduced alertness.


Increased circulating IgG1 level

description: An abnormally increased concentration of the IgG1 subtype in the blood circulation.


name: Abnormal circulating ornithine concentration

description: Deviation from the normal concentration of ornithine in the blood circulation.


Abnormal skin adnexa morphology

description: An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.


Procedural memory loss

description: A reduction in the ability to retrieve information about how to perform activities, such as how to ride a bike or drive a car, how to perform activities of daily living, or how to play a musical instrument.


name: Reduced epidermal plectin protein expression


name: Cone-shaped epiphysis of the proximal phalanx of the 4th toe


Posterior pituitary dysgenesis

description: Abnormal development of the neurohypophysis during embryonic growth and development.


Salmonella osteomyelitis

description: Osteomyelitis caused by infection with the bacteria, salmonella.


Arcuate artery endotheliosis

description: Enlargement of endothelial cells of the arcuate arteries of the kidney because of cytoplasmic swelling.


name: Elevated circulating propionylcarnitine concentration

description: Increased concentration of propionylcarnitine in the blood circulation.


Circumoral cyanosis

description: Persistent blue color of the skin that surrounds the mouth.


Proximal scleroderma

description: Symmetrical thickening, tightening and induration of the skin of the fingers and the skin proximal to the metacarpophalangeal or metatarsophalangeal joints. These changes can involve the entire limb, face, neck and trunk.


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

description: Partial or complete duplication of the middle phalanx of index finger.


name: Contracture of the interphalangeal joint of the hallux

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


Left ventricular systolic dysfunction

description: Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent.


name: Decrease in high molecular weight von Willebrand factor Multimers

description: A decrease in high molecular weight von Willebrand factor multimers.


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

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


name: Elevated urinary phenylpyruvic acid level

description: An abnormally increased amount of phenylpyruvic acid in the urine.


Ballooning hepatocyte degeneration

description: Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarefied, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62.


Decreased urinary norepinephrine level

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


name: Elevated proportion of CD4+ effector memory T cells

description: An abnormally increased proportion of effector memory CD4+ T cells. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype.


Fractured distal tarsal bone

description: A partial or complete breakage of the distal tarsal bone.


name: Decreased cirrculating antimullerian hormone circulation

description: A reduction below the normal range of the antimullerian hormone in the circulation.


Abnormality of the mitochondrion

description: An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration.


Abnormal blistering of the skin

description: The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.


Decreased CSF tyrosine concentration

description: Abnormally decreased levels of tyrosine in cerebrospinal fluid.


Focal cortical dysplasia type Ib

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


name: Intermittent generalized erythematous papular rash


1-2 finger syndactyly

description: Syndactyly with fusion of fingers one and two.


name: Easily subluxated first metacarpophalangeal joints


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


name: Focal aware autonomic seizure with piloerection

description: A focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by retained awareness throughout the seizure.


name: Triangular epiphysis of the middle phalanx of the 5th toe


Supernumerary testes

description: The presence of more than two testes.


medulloepithelioma

description: A rare, usually aggressive malignant embryonal neoplasm of the central nervous system occurring in children. It is characterized by the presence of neuroepithelial cells which form papillary, trabecular, or tubular structures and absence of C19MC amplification. Symptoms include headache, nausea, and vomiting.


name: Decreased proportion of CD4-positive T cells

description: A reduction in the proportion of CD4-positive T cells relative to the total number of T cells.


Anti-La/SS-B antibody positivity

description: The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens.


name: Fatty replacement of ventricular myocardial tissue

description: Presence of an increased amount of fat tissue within a cardiac ventricle with corresponding reduction of muscle tissue.


name: Abnormal morphology of myocardial trabeculae

description: Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae).


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


Decreased HDL2a concentration

description: A reduction below 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.


Cardiac polyglucosan accumulation

description: Accumulation of a poorly branched and poorly spherical amylopectin-like glycogen (polyglucosan) in myocardial tissue.


Abnormal Sharpey fiber morphology

description: An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibers connecting periosteum to bone.


Interictal EEG abnormality

description: Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge.


Elevated cholesterol ester level

description: An elevated concentration of circulating cholesterol esters, which are fatty acid esters of cholesterol and make up about two-thirds of total plasma cholesterol.


Monoclonal elevation of circulating IgA

description: An increase in circulating IgA characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.


Anti-GW182 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GW182.


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

description: An abnormal proportion of effector memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.


Serrated incisors

description: Incisor teeth with irregular edges said to resemble a saw.


name: Focal impaired awareness autonomic seizure with erection

description: A focal autonomic seizure with erection characterized by impairment of awareness at some point during the seizure.


name: Abnormal glomerular endothelial cell morphology

description: An abnormal structure of the glomerular endothelial cells, which are highly specialized cells with fenestrae and a charged luminal glycocalyx layer that contribute to the filtration barrier.


Thyroid agenesis

description: The congenital absence of the thyroid gland.


name: Focal aware cognitive seizure with receptive dysphasia/aphasia

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


Onychauxis

description: Thickened nails without deformity.


Low APGAR score

description: An Apgar score less than seven.


White cerebellum sign

description: On computed tomography of the brain,the white (or dense) cerebellum sign is seen when the cerebellum appears dense with respect to the cerebral parenchyma. The increase in attenuation of cerebellum is in fact a relative hyperdensity caused by decreased attenutation of the brain. It represents anoxic-ischemic cerebral injury, and has a very poor prognosis.


name: Low alkaline phosphatase of renal origin

description: An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood.


Upper limb postural tremor

description: A type of tremors that is triggered by holding an arm in a fixed position.


name: Decreased circulating A-type natriuretic peptide concentration

description: A measurable reduction in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.


Neoplasm of striated muscle

description: A benign or malignant neoplasm (tumor) originating in striated muscle, either skeletal muscle or cardiac muscle.


Oral melanotic macule

description: Flat, distinct, discolored area of oral mucosal membrane less than 1 cm wide not associated with a change in the thickness or texture of the affected mucosal membrane. The lesions are small, solitary, well-circumscribed and often uniformly pigmented.


Axial hypotonia

description: Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.


Holster sign

description: Symmetric poikiloderma of hips and lateral thighs below the greater trochanter.


Myocardial granulomatous infiltrates

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


Increased level of D-threitol in plasma

description: An increase in the level of D-threitol in the plasma.


Decreased urinary metaepinephrine level

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


cerebral cavernous malformation 1

description: A cerebral cavernous malformation (also known as cavernoma, cavernous angioma, cavernous hemangioma) is a collection of structurally abnormal slow-flow capillaries predominantly in the central nervous system. These are multiple mulberry-like distended caverns of dilated thin-walled capillaries without the normal intervening brain parenchymal architecture. Often, individual cavernomas are surrounded by hemosiderin representing remote oozing due to the abnormal capillaries.


Localized periodontitis

description: A localized form of periodontitis.


Absent distal phalanx of the 3rd toe

description: Developmental aplasia of the distal phalanx of third toe.


name: Focal cognitive seizure with forced thinking

description: A focal cognitive seizure characterized by forced thinking as the initial semiological manifestation.


name: Lymphocytic infiltration of the colorectal mucosa

description: Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy.


name: Decreased platelet alpha-2A-adrenergic receptor

description: Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine.


Short hard palate

description: Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective).


Median pseudocleft lip

description: A type of mild median cleft lip in which the central tubercle of the upper lip is replaced by a mucosal cleft in the midline.


description: Neonatal bilateral symmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body symmetrically.


Hypoplastic labia majora

description: Undergrowth of the outer labia.


Urethrovesical occlusion

description: Blockage of the flow of urine from the bladder into the urethra.


Cerebral cortical microinfarct

description: An infarct located on the outer layer of the cerebrum that can only be observed microscopically. Cerebral microinfarcts are typically defined as sharply delimited microscopic regions of cellular death or tissue necrosis, sometimes with cavitation (that is, a central fluid-filled cavity). The term microscopic denotes that these lesions are not visible by gross inspection of the brain but seen by light microscopy. The term infarct is most commonly used for ischemia-related tissue loss, and indeed the pathologic appearance of microinfarcts is consistent with that of known ischemic infarctions.


Excessive guilt

description: Guilt that is excessive in that it is based on an incorrect judgment (that one is responsible for a negative outcome) or is out of proportion to the committed offense.


thyroid hemiagenesis

description: Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.


Uhl anomaly

description: Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation.


Abnormal lymphocyte physiology

description: Any anomaly of lymphocyte function.


name: Hepatic lipid-laden macrophage infiltration

description: Accumulation of foamy cells (lipid-laden macrophages) in the parenchyma of the liver.


name: Focal substantia nigra T2 hyperintensity

description: Hyperintense lesion in the substantia nigra on magnetic resonance T2 imaging.


Reduced prothrombin antigen

description: Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin.


Longitudinal vaginal septum

description: The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication.


Ureteral dysgenesis

description: A developmental anomaly of the ureter.


name: Abnormal urine alpha-ketoglutarate concentration

description: A deviation from normal of the concentration of 2-oxoglutaric acid in the urine.


Recurrent paroxysmal headache

description: Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality.


Focal aware bilateral motor seizure

description: A type of focal bilateral motor seizure during which awareness is fully retained throughout.


name: Abnormal glossopharyngeal nerve morphology

description: Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX).


congenital generalized lipodystrophy

description: An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues.


Fractured skull

description: A partial or complete breakage of the skull.


Esophageal web

description: Thin (2-3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa that can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. Acquired webs are much more common than congenital webs and typically appear in the cervical area (postcricoid). Clinical symptoms of this condition are selective (solid more than liquids) dysphagia, thoracic pain, nasopharyngeal reflux, aspiration, perforation and food impaction (the last two are very rare).


name: Abnormal arcuate artery lumen morphology

description: Abnormal structural characteristics of the interior space (lumen) of the arcuate artery of the kidney.


name: Triangular epiphysis of the middle phalanx of the 3rd toe


Limited head nodding or shaking

description: Absence or reduction in the use of head nodding to indicate "yes" or head shaking to indicate "no".


Abnormal pulmonary lymphatics

description: An abnormality of the pulmonary lymphatic chain.


Fibular overgrowth

description: Relatively increased growth of the fibula compared to that of the tibia.


Periauricular skin pits

description: Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit.


Non-restorative sleep

description: Perception of feeling unrefreshed after sleep.


Small acrosomal area

description: Reduction in size of the acrosome below the lower limit of normal. The acrosome is a unique membranous organelle located over the anterior part of the sperm nucleus. According to the World Health Organization criteria, the acrosome must be clearly visible, comprising approximately 40-70 percent of the sperm head.


Verrucous cell carcinoma of the tongue

description: A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance.


Facial wrinkling

description: Excessive wrinkling of the skin of the face.


Truncal obesity

description: Obesity located preferentially in the trunk of the body as opposed to the extremities.


name: Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level

description: The amount of 2,3-dihydroxy-2-methylbutanoic acidin the urine, normalized for urine concentration, is above the upper limit of normal.


Abnormality of molar

description: An abnormality of molar tooth.


Plantar flexion contracture

description: A type of contracture in which the plantar flexion muscles are contracted.


Fallopian tube torsion

description: A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation.


Pulmonary hypertensive crisis

description: Pulmonary hypertensive crisis involves sudden and potentially lethal increases in PAP and PVR that cause acute rise in right atrial and right ventricular end-diastolic pressure accompanied by low cardiac output.


Atypical absence status epilepticus

description: Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure.


allesthesia

description: A neurological disorder in which a sensory stimulus, usually tactile but more rarely other sensory modalities, is misperceived in a location distant from the original stimulus.


Ear pain

description: Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia).


Muscular ventricular septal defect

description: The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle.


name: Ivory epiphysis of the distal phalanx of the 4th toe


Abnormal uterine cervix morphology

description: An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix.


Abnormality of primary teeth

description: Any abnormality of the primary tooth.


Fast-growing nails

description: Nails whose growth is quicker than normal.


Porcelain gallbladder

description: Porcelain gallbladder refers to the condition in which the inner gallbladder wall is encrusted with calcium. The wall becomes brittle, hard, and often takes on a bluish hue. It is usually found incidentally on plain abdominal x-rays or other imaging because most patients are asymptomatic.


Abnormal cerebral vein morphology

description: An anomaly of cerebral veins.


Abnormal exteroceptive sensation

description: A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes.


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


Abnormality of venous physiology

description: An anomaly of venous function.


name: Abnormal circulating insulin concentration

description: An abnormal concentration of insulin in the body.


Abnormal spermatogenesis

description: Incomplete maturation or aberrant formation of the male gametes.


thyroid crisis

description: Acute onset of severe, life-threatening hyperthyroidism caused by a sudden release of excessive thyroid hormone.


Positional foot deformity

description: A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies.


Renal arteriole intima/media hyalinosis

description: Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material (hyalinosis) in the inner or middle layer of the renal arterioles. This feature may be accompanied by hypertrophy of the media and intima fibrosis.


deep seated dermatophytosis

description: A deep folliculitis due to a cutaneous dermatophyte infection, usually on the legs. It is most commonly caused by trichophyton rubrum and is characterized by the formation of spongy granulomas which persist for three to four months and leaves deep scars.


Parosmia

description: Misperception of existing odor, that is, distorted or altered olfactory perception in the presence of known stimuli.


name: Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis

description: A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


name: Focal aware emotional seizure with fear/anxiety/panic

description: Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is retained throughout.


name: Renal arteriole foam cell endoarterial hypercellularity

description: A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen.


Abnormal number of incisors

description: The presence of an altered number of the incisor teeth.


Developmental stagnation

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


Hot cross bun sign

description: A cruciform-shaped hyperintensity within the pons found on T2-weighted magnetic resonance imaging (MRI).


name: Abnormality of the epiphysis of the distal phalanx of the hallux


Brittle hair

description: Fragile, easily breakable hair, i.e., with reduced tensile strength.


name: Elevated circulating 3-hydroxyisovalerylcarnitine concentration

description: Concentration of 3-hydroxyisovalerylcarnitine in the blood circulation above the upper limit of normal.


name: Aplasia/hypoplasia of proximal toe phalanx

description: Absence (agenesis) or underdevelopment of the proximal phalanx of the toe.


peripheral neuropathy

description: A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs.


Diminished ability to concentrate

description: Being unable to focus one's attention or mental effort on a particular object or activity.


name: Increased level of myristic acid in serum

description: An increase in the level of myristic acid in the serum.


cleft lip/palate

description: Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.


name: Focal aware head nodding automatism seizure

description: A type of focal automatism seizure characterized by involuntary head nodding at onset and during which awareness is fully retained throughout.


name: Elevated circulating uroporphyrin concentration

description: Concentration of uroporphyrin in the blood circulation above the upper limit of normal.


Anorgasmia

description: Inability of individual to reach orgasm.


Groin pain

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


Aplastic/hypoplastic toenail

description: Absence or underdevelopment of the toenail.


Cervical kyphosis

description: Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance.


name: Confluent hyperintensity of cerebral white matter on MRI

description: Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together.


Excessive salivation

description: Excessive production of saliva.


Hepatic foam cells

description: The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the liver.


name: Abnormality of the distal phalanges of the toes


Abnormal cardiac catheterization

description: Abnormal results from the diagnostic tests resulting from cardiac catheterization.


Cerebellar granular layer atrophy

description: Atrophy of the cerebellum affecting primarily the granular cell layer.


Absent proximal phalanx of the 3rd toe

description: Absence of proximal phalanx of third toe, owing to a congenital defect of development.


name: Focal impaired awareness autonomic seizure with piloerection

description: A Focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by impaired awareness at some point during the seizure.


Fingerpad telangiectases

description: Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers.


Short chin

description: Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.


name: Elevated circulating homovanillic acid concentration

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


Pulmonary xanthomatosis

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


name: Anomalous origin of right coronary artery from the pulmonary artery

description: Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve.


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


name: Agenesis of permanent mandibular central incisor

description: Agenesis of lower secondary incisor.


corpus callosum, agenesis of

description: A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment.


Enlarged peripheral nerve

description: Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve.


Proximal lower limb amyotrophy

description: Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.


Expressive language delay

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


Honeycomb lung

description: Honeycombing represents destroyed and fibrotic lung tissue containing numerous cystic airspaces with thick fibrous walls, representing the late stage of various lung diseases, with complete loss of acinar architecture. The cysts range in size from a few millimeters to several centimeters in diameter, have variable wall thickness, and are lined by metaplastic bronchiolar epithelium. On chest radiographs, honeycombing appears as closely approximated ring shadows, typically 3-10 mm in diameter with walls 1-3 mm in thickness, that resemble a honeycomb; the finding implies end-stage lung disease. On CT scans, the appearance is of clustered cystic air spaces, typically of comparable diameters on the order of 3-10 mm but occasionally as large as 2.5 cm. Honeycombing is usually subpleural and is characterized by well-defined walls. It is a CT feature of established pulmonary fibrosis. Because honeycombing is often considered specific for pulmonary fibrosis and is an important criterion in the diagnosis of usual interstitial pneumonia, the term should be used with care, as it may directly impact patient care.


Hypoplasia of right ventricle

description: Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells.


Intellectual disability, severe

description: Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.


neurofibroma

description: An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors.


flatfoot

description: An anatomic deformity in which the arch of the foot collapses, resulting in the entire sole of the foot coming into complete or near-complete contact with the ground.


holoprosencephaly 1

description: The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22.


Hypoleucinemia

description: Decreased amount of leucine in the blood.


Increased intestinal transit time

description: An increase in the length of time required for food to pass through the intestines.


name: Symphalangism affecting the phalanges of the 3rd toe


Absent metatarsal bone

description: A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone.


name: Increased aromatic amino acid level in urine

description: An elevated level of an aromatic amino acid in the urine.


tricuspid valve prolapse

description: Abnormal protrusion of one or more of the leaflets of tricuspid valve into the right atrium during systole. This allows the backflow of blood into right atrium leading to tricuspid valve insufficiency; systolic murmurs. Its most common cause is not primary valve abnormality but rather the dilation of the right ventricle and the tricuspid annulus.


name: Decreased circulating 17-hydroxyprogesterone concentration

description: Concentration of 17-hydroxyprogesterone in the blood circulation below the lower limit of normal.


Cor triatrium sinister

description: A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum.


eunuchism

description: The state of being a eunuch, a male without testes or whose testes failed to develop. It is characterized by the lack of mature male germ cells and testicular hormones.


Prolonged QRS complex

description: Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec.


Mental deterioration

description: Loss of previously present mental abilities, generally in adults.


Partial hyposmia

description: Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).


name: Osteolytic defects of the phalanges of the 2nd finger


Olfactory sensory seeking

description: Pursuit of specific scents, smells, or fragrances that is abnormal in intensity and/or frequency.


Diffuse cerebral atrophy

description: Diffuse unlocalised atrophy affecting the cerebrum.


Abnormal facial artery morphology

description: Any structural abnormality of a facial artery, one of the branches of the external carotid artery.


Arteriovenous malformation of the lip

description: A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus.


Renal tubular epithelial lipofuscin

description: Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules.


isolated Pierre-Robin syndrome

description: Pierre-Robin syndrome (or Pierre-Robin sequence) is characterized by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft.


Impaired temperature sensation

description: A reduced ability to discriminate between different temperatures.


name: Elevated circulating fibroblast growth factor 23 concentration

description: The concentration of fibroblast growth factor 23 in the blood circulation is above the upper limit of normal.


name: Delayed scintigraphic gallbladder filling

description: Hepatobiliary scintigraphy is a nuclear imaging technique that permits evaluation of the liver and biliary system for acute and chronic cholecystitis, biliary atresia, biliary obstruction, and post-surgical biliary leak. With this investigation, a radiotracer is administered intravenously, bound to albumin, transported to the liver, and excreted into the biliary system. This term refers to a longer than normal time for the radiotracer to be visualized in the gallbladder. This finding may be a sign of chronic gallbladder disease or partial obstruction of the common bile duct.


Elevated urinary prostaglandin E2 level

description: An increased amount of prostaglandin E2 in the urine.


Dystrophic fingernails

description: The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate.


Abnormal duodenum morphology

description: An abnormality of the duodenum, i.e., the first section of the small intestine.


Elevated transferrin saturation

description: An above normal level of saturation of serum transferrin with iron.


Abnormal pleura morphology

description: An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls.


Elevated CSF cholestanol concentration

description: The concentration of cholestanol in the cerebrospinal fluid (CSF) is above the upper limit of normal. Cholestanol is the 5-alpha-dihydro derivative of cholesterol.


Anti-H2A antibody positivity

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


name: Reduced left ventricular endsystolic diameter

description: A lower than normal left ventricular endsystolic diameter.


Partial albinism

description: Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs.


5-oxoprolinase deficiency

description: 5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria.


Frontal cutaneous lipoma

description: Presence of a cutaneous lipoma on the forehead.


Bifid clitoris

description: Two clitorides located side by side.


Hypovalinemia

description: A decreased amount of valine in the blood.


Left unilambdoid synostosis

description: Premature synostosis of only the left lambdoid suture.


name: Fatiguable weakness of proximal limb muscles

description: A type of weakness of a skeletal muscle of proximal part of a limb 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.


Impaired fasting glucose

description: Impaired fasting glucose (IFG) is indicated by a fasting plasma glucose above normal but below the diabetic range. Levels between 110 mg/dl (6.1 mmol/l) to 125 mg/dl (6.9 mmol/l) are diagnostic of IFG.


name: Abnormal left ventricular endsystolic diameter

description: A deviation from the normal range of the left ventricular endsystolic diameter.


Hepatolithiasis

description: The presence of gallstones within the intrahepatic bile ducts proximal to the right and left hepatic ducts.


Anti-laminin gamma1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against laminin gamma-1.


Patulous urethra

description: Urethra more open or expanded than normal.


Embryonal renal neoplasm

description: The presence of an embryonal neoplasm of the kidney that primarily affects children.


name: Irregular epiphysis of the 1st metatarsal


Posterior pituitary agenesis

description: Absence of the neurohypophysis owing to a developmental defect.


Asymmetry of the mandible

description: Lack of symmetry between the left and right mandible.


Hypoplastic tricuspid valve

description: Congenital defect characterized by underdevelopment of the tricuspid valve.


Agenesis of molar

description: Agenesis of molar tooth.


name: Synostosis of the proximal phalanx of the hallux with the 1st metatarsal


2-hydroxyglutarate aciduria

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


name: Early progressive calcific cardiac valvular disease


Polyclonal elevation of circulating IgA

description: A heterogeneous increase in IgA mmunoglobulins characterized by a diffuse band on serum electrophoresis.


Preterm intraventricular hemorrhage

description: Intraventricular hemorrhage that occurs in a premature infant.


Hypermagnesiuria

description: An increased concentration of magnesium the urine.


Abnormal pancreas size

description: A deviation from the normal size of the pancreas.


Aplasia/Hypoplasia of the thyroid gland

description: Absence or underdevelopment of the thyroid gland.


Atrophic pituitary gland

description: Partial or complete wasting (loss) of the pituitary gland.


Renal interstitial calcium oxalate

description: The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney.


Music-induced seizure

description: Seizure precipitated by listening to music or other complex sounds.


Thinned small intestinal mucosa

description: Abrnormal reduction in the height of the mucosa of the small intestine. The mucosa is arranged in regular circular folds (the circular valves of Kerckrin), the mucosal surface is covered with small projections called villi, which are slender, about 1.5-2 mm long projections of the mucosa into the lumen. In between the villi are the crypts. This term refers to a pathological thinning of these structures.


Appendicular hypotonia

description: Muscular hypotonia of one or more limbs.


Hypocalcemic tetany

description: Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms.


name: Anti-phosphatidic acid antibody positivity

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


name: Cone-shaped epiphysis of the middle phalanx of the 5th toe


Abnormal toenail morphology

description: An anomaly of the toenail.


Antisperm antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against sperm antigens.


hereditary geniospasm

description: Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip.


postaxial polydactyly type A

description: Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal.


name: Soft-tissue ossification around the shoulders

description: Formation of calcified tissue in the soft tissues surrounding the shoulder.


Abnormal urinary purine level

description: Any deviation from the normal amount of a purine compound in the urine. Purines are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. Two of the four deoxyribonucleotides (deoxyadenosine and deoxyguanosine) and two of the four ribonucleotides (adenosine, or AMP, and guanosine, or GMP) are purines.


Type 2 schizencephaly

description: A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal gray matter that are opposed to each other.


name: Hepatic melanin-like lysosomal pigmentation

description: Accumulation of dark, coarsely granular pigment localized in lysosomes of centrilobular hepatocytes.


Dibasicaminoaciduria

description: An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually refered to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His).


Impaired two-point discrimination

description: A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart.


Anti-p53 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against p53.


name: Anomalous origin of the right common carotid artery from the aorta

description: The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta.


Eosinophilic gallbladder infiltration

description: Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination.


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

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


Scheuermann disease

description: A disorder characterized by osteochondrosis of the vertebral epiphyses in childhood.


Tactile sensory seeking

description: Pursuit of a specific texture that is abnormal in intensity and/or frequency.


name: Aplasia/Hypoplasia of the fallopian tube

description: Aplasia or developmental hypoplasia of the fallopian tube.


Focal cortical dysplasia type Ia

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


Dilatation of celiac artery

description: Abnormal outpouching or sac-like dilatation in the wall of the celiac artery.


Sleep myoclonus

description: Myoclonus that occurs during the initial phases of sleep.


Broad 2nd toe

description: A broad appearance of the second toe.


Premature pubarche

description: The onset of growth of pubic hair at an earlier age than normal.


Anti-HLA-A IgG3 antibody positivity

description: The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A).


Absent brainstem auditory responses

description: Lack of measurable response to stimulation of auditory evoked potentials.


Abnormality of blood circulation

description: An abnormality of blood circulation.


name: Elevated circulating alpha-oxoadipic acid concentration

description: Concentration of alpha-oxoadipic acid in the blood above the upper limit of normal.


name: Sclerosis of the distal phalanx of the 4th finger


Patchy sclerosis of distal toe phalanx

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


name: Abnormal subcutaneous fat tissue distribution


Hypoplastic left atrium

description: Underdeveloped, small left heart atrium


Pallidal degeneration

description: Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement.


description: Neonatal electro-clinical myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal).


name: Multiple muscular ventricular septal defects

description: A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum.


Fragile teeth

description: A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma.


Delusional memory

description: A delusional interpretation of a normal memory.


Hypoplasia of the frontal bone

description: Underdevelopment of the frontal bone.


Hyperechogenic kidneys

description: An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal.


Screwdriver-shaped incisors

description: An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape.


Tubular shadows

description: Tubular shadows are characterized by a complete absence of cells in the testicular tubules, meaning that germ cells as well as somatic Sertoli cells are absent. The cells have been replaced by hyalinization.


name: Increased urinary transitional epithelial cell count

description: An increased number of transitional epithelial cells per high-power field in urinanalysis.


cholesteatoma

description: A pathologic process characterized by the proliferation of keratinizing squamous epithelium resulting in the accumulation of keratin and cells in the middle ear and/or mastoid. It may be congenital or acquired. If left untreated, it may increase in size and destroy adjacent structures.


Decreased CSF leucine concentration

description: Abnormally decreased levels of leucine in the cerebrospinal fluid.


autoimmune hypoparathyroidism

description: An autoimmune form of hypoparathyroidism.


Absent hallux epiphysis

description: Failure to form (agenesis) of one or more epiphyses of the big toe.


name: Oligoclonal elevation of circulating IgG

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


name: Elevated CSF chitinase-3-like protein 1 concentration

description: Increased concentration of chitinase-3-like protein 1 in cerebrospinal fluid.


Lip tremor

description: An unintentional, oscillating to-and-fro muscle movement affecting the lip.


Hippocampal malrotation

description: Hippocampal malrotation, also termed incomplete inversion of the hippocampus or hippocampal malformation, is an increasingly recognized neuroimaging finding of undetermined clinical significance. It is characterized by features including (i) Round or pyramidal shape instead of ovoid shape; (ii) Medial position of the hippocampus on the hippocampal sulcus; (iii) The collateral sulcus is excessively deep or verticalized; (iv) Fimbria located medial to the hippocampus; (v) Small or displaced fornix; (vi) Enlarged temporal horn and empty choroid fissure; (vii) Thickened subiculum; (viii) Reduced upper horizontal portion of the parahippocampal gyrus.


Duplication of renal pelvis

description: A duplication of the renal pelvis.


absence of the pulmonary artery

description: A rare vascular anomaly characterized by congenital absence of the right or left pulmonary artery, usually ending within 2 cm of its expected origin from the pulmonary trunk. Patients often also have other cardiovascular abnormalities and respective symptoms and are then typically diagnosed in infancy or childhood, while isolated cases generally present with a mild clinical course and may go undiagnosed until adulthood. Presenting clinical features in isolated cases include hemoptysis, exertional dyspnea, and recurrent respiratory infections. The condition is typically accompanied by marked changes of lung tissue and may, if unrecognized, result in massive hemoptysis and pulmonary hypertension.


Increased urinary sedoheptulose

description: An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group.


Urinary space collagenization

description: Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft.


name: inherited glutathione synthetase deficiency

description: Glutathione synthetase deficiency is characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.


Forearm supination contracture

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


Normal interictal EEG

description: Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis.


name: Type 1 congenital pulmonary airway malformation

description: A type of congenital pulmonary airway malformation that is characterized by multiple large cysts or a single dominant cyst.


Nephrotic range proteinuria

description: Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children.


Oppenheim reflex

description: Dorsiflexion of the big toe, sometimes accompanied by fanning of the other toes, elicited by stroking along the medial side of the tibia (the normal response would be no movement of the big toe).


Abnormal septum pellucidum morphology

description: An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain.


Eruption failure

description: A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential.


Postprandial fullness

description: Feeling excessively full after meals.


name: Reduced erythrocyte free porphyrin concentration

description: Concentration of porphyrin in erythrocytes below the lower limit of normal.


Lack of T cell function

description: Complete inability of T cells to perform their functions in cell-mediated immunity.


Binucleated visceral epithelial cells

description: Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy.


chronic idiopathic urticaria

description: Chronic form of idiopathic urticaria.


name: Aplasia/Hypoplasia of the phalanges of the 5th toe


Elevated brain lactate level by MRS

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


Reduced von Willebrand factor activity

description: Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.


External carotid artery dissection

description: A separation (dissection) of the layers of the external carotid artery wall.


Venom allergy

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


name: Abnormal circulating carnitine concentration

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


Abnormality of the philtrum

description: An abnormality of the philtrum.


Abnormality of inferior alveolar nerve

description: An abnormality of an inferior alveolar nerve.


Central nail canal

description: The presence of a depressed line ("canal") in the center of the nail.


Elevated urinary 2-hydroxybutyric acid

description: An increased amount of 2-hydroxybutyric acid in the urine.


Proximal placement of hallux

description: Proximal mislocalization of the big toe from its normal position.


name: Abnormal circulating copper concentration

description: An abnormal concentration of copper.


Abnormal right ventricle morphology

description: An abnormality of the right ventricle of the heart.


name: atrial septal defect, coronary sinus type

description: A developmental defect in which the coronary sinus fails to form.


name: Elevated circulating uracil concentration

description: Concentration of uracil in the blood circulation is above the normal range.


Adrenocortical hyperplasia

description: A non-malignant growth, or enlargement, of the adrenal glands, specifically the cortex, although the cortex cannot be definitively identified by conventional imaging. Adrenal cortical hyperplasia is defined radiologically as a non-malignant growth, or enlargement, of the adrenal glands.


Anti-ribosome Po antibody positivity

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


Anti-thyroid antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against one or more components on the thyroid.


Focal T2 hyperintense thalamic lesion

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


name: Anomalous coronary artery arising from the opposite sinus

description: Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva.


Overjet

description: An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure.


Flank mass

description: An abnormal enlargement or swelling in the flank, which is the fleshy part of the side of the body between the ribs and the hip.


Intestinal lymphedema

description: Fluid retention and edema in the intestine caused by a compromised lymphatic system.


CSF mycobacteria

description: Mycobacterium present in the cerebrospinal fluid (CSF). This feature can be ascertained by CSF microscopy.


name: Abnormal cerebral venous sinus morphology

description: Abnormal structure of the venous sinuses that drain blood from the cerebral veins and cerebrospinal fluid (CSF) from the arachnoid granulations to the internal jugular veins.


Spontaneous hematomas

description: Spontaneous development of hematomas (hematoma) or bruises without significant trauma.


name: Subluxation of the small joints of the hand

description: A partial dislocation of some or all of the small joints of the hand.


Abnormality of the pylorus

description: An abnormality of the pylorus.


Delusion

description: A delusion is a fixed false belief held despite evidence to the contrary. The term delusion broadly encompasses all false judgments that possess the following external characteristics to a significant, albeit unspecified, extent: (1) they are held with an exceptional level of conviction, accompanied by an unparalleled subjective certainty; (2) there is an inability to consider alternative experiences or compelling counter-arguments; (3) the content of the belief is impossible.


Focal neonatal sequential seizure

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


Tessier number 6 facial cleft

description: A facial cleft extending from the zygomatic arch to the eye. This zygomaticomaxillary cleft is similar to that typically found in Treacher Collins syndrome. The overlying tissue shows a vertical sclerodermic furrow radiating from the labial commissure or the angle of the mandible across the cheek to a coloboma of the lower eyelid between the middle and lateral one-third. Microphthalmia is not observed. The skeletal cleft is between the maxilla and zygoma; it passes through the inferolateral orbital rim to enter the inferior orbital fissure. No alveolar cleft is present. The zygomatic arch is intact. The soft tissue furrow, which is more apparent on the right, radiates from the oral commissure toward the lateral two-thirds of the lower eyelid. The antimongoloid obliquity of the palpebral fissures is associated with laterally placed lower eyelid clefts and some ectropion. A left-sided anophthalmia is accompanied by adjacent soft tissue hypoplasia and is reflected in a short palpebral fissure, enophthalmos, and minor ptosis of the eyebrow. No abnormality is present in the alveolar arch except for some tilting of the occlusal plane secondary to hypoplasia of the left side of the maxilla. There is a vertical bony groove in the region of the zygomaticomaxillary suture that ends in the inferolateral portion of a small bony orbit. More laterally, the remainder of the zygomatic body and arch is normal in both shape and dimension. The lateral orbital floor is downslanting but intact, and it lacks direct communication with the temporal or infratemporal fossae. The hypoplasia of the left side of the maxilla and orbit is associated with a reduction in the transverse and anteroposterior dimensions of the anterior cranial fossa; mild asymmetry of the middle cranial fossa and calvarium is present. No significant asymmetry of size, shape, or position is present in the sphenoid.


EEG with abnormally slow frequencies

description: EEG with abnormally slow frequencies.


Severe intrauterine growth retardation

description: Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age.


Abnormal thoracic duct morphology

description: Any structural anomaly of the thoracic duct.


name: Abnormality of cardiovascular system electrophysiology

description: An anomaly of the electrical conduction physiology of the heart.


carotid artery dissection

description: Spontaneous or traumatic separation of the layers of the carotid artery wall. It manifests with headache, neck pain, temporary vision loss, and/or ischemic stroke.


Compression-fractured vertebra

description: A fracture of the vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.


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


Abnormality of the anterior commissure

description: An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts.


name: Abnormality of the distal phalanx of the 4th toe


Increased circulating galectin-3 level

description: An increased circulation of galectin-3 in the blood circulation.


Abnormally increased motivation

description: An excessive increase in goal-directed behavior, that is, motivation, is the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action. It also includes an excessive increase in non goal-directed movement or activity.


bone neoplasm

description: A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage.


Facial hirsutism

description: Excess facial hair.


name: Focal aware cognitive seizure with dysgraphia/agraphia

description: A focal cognitive seizure with dysgraphia / agraphia characterized by retained awareness throughout the seizure.


Hyporeflexia of upper limbs

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


name: Reduced sympathoneural responses to the cold pressor test

description: Response to the cold pressor test below the lower limit of normal. The cold pressor test is a simple and validated test in which the subject immerses one hand or foot into ice water for 1 to 3 minutes while blood pressure (BP) and heart rate are monitored. The cold stimulus activates afferent sensory pathways that, in turn, trigger a sympathetic response resulting in an increase in BP.


Diverticulosis of trachea

description: Tracheal diverticula are blind-ended outpouchings arising from the trachea. They are usually an incidental finding. Occasionally they can mimic pneumomediastinum. Tracheal diverticula are either congenital or acquired, in the latter case the most common causes are prolonged increased intraluminal pressure, e.g. chronic cough, COPD, tracheomalacia, and iatrogenic (e.g. post-surgical).


Absent mesencephalon

description: Agenesis of the midbrain.


Aortic arch aneurysm

description: An abnormal localized widening (dilatation) of the aortic arch.


Anti-factor VII antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against factor VII.


name: Patchy sclerosis of the distal phalanx of the 5th finger

description: Patchy increase in bone density of the distal phalanx of the 5th finger.


Straddling atrioventricular valve

description: Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect.


familial dysfibrinogenemia

description: Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.


Radial head subluxation

description: Partial dislocation of the head of the radius.


name: Tetralogy of Fallot with absent subarterial conus


Hyperhomocystinemia

description: An increased concentration of homocystine in the blood.


Solitary angiokeratoma

description: A dark, keratotic papule about 2-10 mm in diameter, usually occuring on the lower extremeities. Usually the lesions begin as bright, soft, and nonkeratotic paules which grow larger and change to a firm, blue to black and keratotic stage.


name: Abnormal morphology of the proximal phalanx of the 5th toe


osteoma

description: A benign, well-circumscribed, bone-forming neoplasm predominantly composed of lamellar bone. It usually arises from the calvarial, facial, or jaw bones. It is usually asymptomatic but it may cause local swelling or obstruction of the paranasal sinuses. Asymptomatic cases have an indolent clinical course.


name: Posterior predominant subcortical band heterotopia

description: Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the occipital cortex.


Testicular pain

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