overactive bladder

description: Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. urinary incontinence may or may not be present.


Short esophagus

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

description: Abnormal reduction in the length of the esophagus.


Abnormal interest in others

description: A social interest in others that is abnormal given the social context. This can include an increased interest with another person or an abnormal lack of interest in other people.


Cardiac hemangioma

description: Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium.


Distal aortic arch hypoplasia

description: A type of aortic arch hypoplasia whereby the distal aortic arch (arch distal to the ductus arteriosus) has a diameter of less than 60% of the diameter of the ascending aorta.


name: Focal impaired awareness sensory seizure with vestibular features

description: A focal sensory seizure with vestibular features in which awareness is partially or fully impaired at some point during the seizure.


name: Weakness due to upper motor neuron dysfunction

description: Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons.


name: Renal juxtaglomerular cell hypertrophy/hyperplasia

description: Increased number and size of the juxtaglomerular cells.


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

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


Autonomic bladder dysfunction

description: Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system.


Fingernail dysplasia

description: An abnormality of the development of the fingernails.


Dissociation

description: Disruption or detachment of certain aspects of one's normal psychological functioning typically involves a disconnection or separation from thoughts, feelings, sensations, memories, or one's sense of identity or reality.


Increased CSF glutamate concentration

description: Abnormally increased levels of glutamic acid in cerebrospinal fluid.


Fallopian tube duplication

description: The presence of a supernumerary Fallopian tube.


T2 hypointense basal ganglia

description: A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia.


name: Increased urinary type 1 collagen N-terminal telopeptide level

description: An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10 cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours.


name: Focal cognitive seizure with dyslexia/alexia

description: A focal cognitive seizure characterized by dyslexia / alexia as the initial semiological manifestation.


Midshaft hypospadias

description: Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis.


Abnormal oligodendroglia morphology

description: One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers.


Short distal phalanx of the 3rd toe

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


Bilateral apical pulmonary fibrosis

description: A reticular pattern of linear or lineonodular densities in apical portions of both the right and left lungs seen initially on high-resolution computed tomography and in case of progression also on standard chest x-ray.


Decreased CSF protein concentration

description: CSF total protein level is below the lower limit of normal.


Absent testis

description: Testis not palpable in the scrotum or inguinal canal.


name: Increased urinary non-proteinogenic amino acid level

description: An increased level in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.


Fractured acetabular part of hip bone

description: A partial or complete breakage of the acetabular part of hip bone.


otitis media, susceptibility to

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

description: Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.


Abnormal vertebral morphology

description: An abnormality of one or more of the vertebrae.


Prolonged P wave

description: Abnormal increased in the duration of the P wave, which is a marker of delayed inter-atrial conduction.


Myoclonic status epilepticus with coma

description: A type of myoclonic status epilepticus in the presence of coma.


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


Absent epiphysis of the 1st metatarsal

description: Failure to form (agenesis) of the epiphysis of the 1st metatarsal.


Posttussive emesis

description: Vomiting following a coughing spell.


Curved middle phalanx of the 4th toe

description: A deviation from the normal straight form of the middle phalanx of the fourth toe.


ariboflavinosis

description: A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed)


brachydactyly type A2

description: Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger.


Alpha-aminoadipic aciduria

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


Abnormal liver lobulation

description: Formation of abnormal lobules (small masses of tissue) in the liver.


Decreased QRS voltage

description: Reduced amplitude (height) of the QRS complex of the electrocardiogram (EKG), defined as amplitudes of all the QRS complexes in the limb leads are less than 5 mm or amplitudes of all the QRS complexes in the precordial leads less than 10 mm.


Arcuate vein intraluminal thrombi

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


Hyperglutaminuria

description: An increased concentration of glutamine in the urine.


histiocytoid cardiomyopathy

description: Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterized by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.


metaphyseal chondrodysplasia

description: An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.


Impaired glucose tolerance

description: An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose.


1-4 toe syndactyly

description: Syndactyly with fusion of toes one to four.


Absent sperm flagella

description: Sperm cells lacking flagella.


name: transient hypogammaglobulinemia of infancy

description: A rare, primary humoral immunodeficiency of childhood characterized by decreasing serum levels of immunoglobulin G (IgG) as maternal antibodies clear the circulation while serum levels of immunoglobulin A and immunoglobulin M remain normal or are slightly decreased. Diagnosis may be suspected after the age of six months when a child's own synthesis of IgG should accelerate but it must be confirmed retrospectively after normalization of all serum immunoglobulin levels is seen by ages 2-6. This disorder may be caused by inadequate activation of progenitor B cells, defective class-switching or may even represent a maturational variant. Typically, a normal response to protein antigens is found while there is a notably diminished response to viral and bacterial polysaccharide antigens. Clinical presentation may include recurrent infections especially those of the respiratory tract. Despite increased susceptibility to infection in childhood, this disorder is self-limited with minimal implications for a normal life span.


Hypothalamic hypometabolism in FDG PET

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


acidosis disorder

description: An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic.


Dairy allergy

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


Intracranial dermoid cyst

description: A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands.


Absent toe

description: Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues.


Bull's eye rash

description: A cutaneous eruption that consists of multiple (at least two) concentric erythematous rings.


Dental crowding

description: Changes in alignment of teeth in the dental arch


Paroxysmal dyskinesia

description: Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks.


Central nervous system axonal spheroid

description: Axonal spheroids are bubble-like biological features that form on most degenerating axons. During neurodegeneration, bubble-like swellings form along the length of the axon, a primary and early effect of dynamic axonal deformation. These varicosities, spheroids, or swellings have been described as beads on a string and branches bearing fruit, and they frequently appear on degenerating axons. The focal swellings on degenerating axons, axonal spheroids, are often filled with cellular debris such as organelles, pathological proteins, and disorganized cytoskeletal elements.


Impaired toe-walking ability

description: Difficulty or reduced ability to walk on toes. Toe-walking can be tested as a part of the neurological examination. Foot plantar flexion weakness leads to difficulties in walking on toes.


name: Small epiphysis of the distal phalanx of the 5th toe


Gordon reflex

description: Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe).


Thickened aortic valve cusp

description: An abnormally increased thickness of a leaflet of the aortic valve.


Adenomatous colonic polyposis

description: Presence of multiple adenomatous polyps in the colon.


name: Osteolytic defects of the proximal phalanx of the 5th toe


Generalized aminoaciduria

description: An increased concentration of all types of amino acid in the urine.


name: Abnormal urine isobutyrylglycine concentration

description: Abnormal concentration of isobutyrylglycine in the urine.


Enlarged cerebellum

description: An abnormally increased size of the cerebellum compared to other brain structures.


Hypoplastic hippocampus

description: Underdevelopment of the hippocampus.


Excessively loud speech

description: Speech which is abnormally loud that is not due to a structural or muscular abnormality.


Vasculitis by anatomical site

description: Vasculitis categorized according to the anatomical site where the finding is localized.


Focal behavior arrest seizure

description: A type of focal non-motor seizure characterized by an arrest or pause of activities, freezing, or immobilization as the predominant semiological feature throughout the seizure.


name: Reduced brain gamma-aminobutyric acid level by MRS

description: An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS).


cutis laxa

description: Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.


Abnormal urinary inosine level

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


Severe hearing impairment

description: A severe form of hearing impairment.


Impaired ability to organize

description: Impaired ability to bring order to information, actions, or materials to achieve a goal or to follow an established organized routine.


Otitis media with effusion

description: Otitis media characterized by thick or sticky fluid behind the tympanic membrane.


Folie à deux

description: Delusional beliefs are transmitted from one individual to another.


Abdominal cramps

description: A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity.


Diffuse 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 whole brain.


name: Patchy sclerosis of the middle phalanx of the 4th toe

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


EEG with constitutional variants

description: An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic.


Rhabdomyolysis

description: Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.


rhombencephalosynapsis

description: Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterized by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres.


name: Macrodontia of permanent maxillary central incisor

description: Increased size of the maxillary central secondary incisor tooth.


name: Prolonged somatosensory evoked potentials


name: Increased circulating free fatty acid level

description: A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues.


Left ventricular aneurysm

description: A severely scarred portion of infarcted ventricular myocardium that does not contract normally but instead bulges outward while the rest of the ventricle contracts during systole.


name: Abnormal peripheral nerve morphology by anatomical site

description: Abnormal morphology of a specific peripheral nerve


cystathioninuria

description: Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases.


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

description: Partial or complete duplication of the proximal phalanx of fifth toe.


name: Cone-shaped epiphysis of the 1st metatarsal

description: A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot.


Decreased CSF creatinine concentration

description: Concentration of creatinine in the cerebrrospinal fluid below the lower limit of normal.


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


name: Arcuate vein intimal/medial myxomatous degeneration

description: Accumulation of myxoid material (mucus-like material) within the inner or middle layer of the arcuate vein of the kidney.


Supraventricular tachycardia

description: Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles.


Abnormal left ventricle morphology

description: Any structural abnormality of the left ventricle of the heart.


Abnormal CSF amino acid concentration

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


Hypoplastic male external genitalia

description: Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra).


name: Neonatal electro-clinical seizure with behavior arrest

description: Neonatal electro-clinical non-motor seizure with behavior arrest is a type of neonatal electro-clinical seizure characterized by an arrest of activities, freezing, immobilization, with or without apnea and/or other autonomic manifestations.


Abnormal subclavian artery morphology

description: Any anomaly of a subclavian artery.


Short 5th toe

description: Underdevelopment (hypoplasia) of the fifth toe.


EEG with parietal focal spikes

description: EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region.


Broad 5th toe

description: A broad appearance of the fifth toe.


macroglossia

description: The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)


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


name: Aplasia/Hypoplasia of the phalanges of the 2nd toe


name: Elevated circulating dodecanoylcarnitine concentration

description: Concentration of dodecanoylcarnitine (C12:0) in the blood circulation above the upper limit of normal.


Sclerosis of distal toe phalanx

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


congenital radioulnar synostosis

description: Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living.


Severe B lymphocytopenia

description: A severe form of B lymphocytopenia in which the count of B cells is very low or absent.


varicocele

description: A condition characterized by the dilated tortuous veins of the spermatic cord with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume.


creatine phosphokinase, elevated serum

description: A laboratory test result which indicates increased levels of creatine phosphokinase in a biological specimen.


osteomalacia

description: A metabolic bone disease that results from either a deficiency in vitamin D, or an abnormality in the metabolism of vitamin D, or a deficiency of calcium in the diet. The most common symptoms are bone pain and muscle weakness. When it occurs in children it is commonly referred to as rickets. (Diagnostic Surgical Pathology, 3rd ed.) --2003


Xanthine nephrolithiasis

description: The presence of xanthine-containing calculi (stones) in the kidneys.


proximal renal tubular acidosis

description: Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.


Bilateral ductus arteriosus

description: The presence of both a left and a right ductus arteriosus.


Methioninuria

description: Level of methionine in urine above the upper limit of normal.


pellagra

description: Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management.


Conical primary incisor

description: An abnormal conical morphology of the primary incisor.


Alien limb phenomenon

description: Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb.


Typical atrial flutter

description: Typical atrial flutter is an organized atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative.


Abnormal cell morphology

description: Any anomaly of cell structure.


autonomic nervous system neoplasm

description: Benign and malignant neoplasms which arise from or directly involve the central or peripheral elements of the autonomic nervous system.


name: Abnormal periventricular white matter morphology

description: A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles.


trimethylaminuria

description: A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals.


Thick pachygyria

description: Pachygyria with a very thick cerebral cortex measuring 10-20 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age.


otitis externa

description: Inflammation of the anatomical structures of the outer ear and ear canal secondary to an infectious process. Bacterial etiology is most common, but fungal infection is also possible. Symptoms include erythema, edema, and pain.


Cerebral subcortical cyst

description: A fluid-filled sac (cyst) in the region below the cortex of the cerebrum. In magnetic resonance imaging, the fluid within the cyst has the same appearance as cerebrospinal fluid (CSF).


Excessive bleeding after a venipuncture

description: An abnormal high amount of bleeding following the procedure of taking a blood sample.


V-sign

description: Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest.


Bullet-shaped 5th toe phalanx

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


Abnormality of the tonsils

description: An abnormality of the tonsils.


Digital ulcer

description: An open sore on the surface of the skin of a finger or toe.


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


angiomyolipoma

description: A neoplasm with perivascular epithelioid cell differentiation often associated with tuberous sclerosis. It is characterized by a mixture of epithelioid cells, smooth muscle, vessels, and mature adipose tissue. The kidney is the most common site of involvement. Other sites of involvement include the liver, lung, lymph nodes, and retroperitoneum. The vast majority of cases follow a benign clinical course. However, cases of metastatic angiomyolipomas with sarcomatoid features have been described.


Increased CSF isoleucine concentration

description: Abnormally increased levels of isoleucine in cerebrospinal fluid.


Abnormal esophagus morphology

description: A structural abnormality of the esophagus.


Mammary duct ectasia

description: A non-proliferative inflammatory disorder of the large duct (milk duct) of the breast; as such, it affects nipple and areola complex. The condition is characterized by focal dilatation of the lactiferous duct system is due to endoluminal changes, as well as the loss of duct wall elastin, leading to abnormally dilated and tortuous lactiferous ducts with associated periductal inflammation and fibrosis. Mammary duct ectasia may present with nipple discharge or palpable mass.


name: Fragmentation of the epiphyses of the 5th toe


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


name: Facial telangiectasia in butterfly midface distribution

description: Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution.


Chronic lung disease

description: According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.


Peripheral axonal atrophy

description: Atrophic changes of axons of the peripheral nervous system.


spina bifida occulta

description: The mildest form of spina bifida, characterized by any of several neural tube defects which may go undetected until an x-ray is performed. Treatment is symptomatic.


superior vena cava syndrome

description: Obstruction of the blood flow in the superior vena cava caused by a malignant neoplasm, thrombosis, or aneurysm. It is a medical emergency requiring immediate treatment. Signs and symptoms include swelling and cyanosis of the face, neck, and upper arms, cough, orthopnea, and headache.


Overly formal/pedantic language

description: Use of language that is overly formal, precise, detailed, or pedantic for the social context.


Inlet ventricular septal defect

description: A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus.


name: Focal aware perseverative automatism seizure

description: A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset and during which awareness is fully retained throughout.


Renal steatosis

description: Abnormal fat accumulation in the kidneys.


Pruritis on hand

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


Abnormal HDL3b concentration

description: Any deviation from the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.


Abnormal renal tubular resorption

description: An abnormality of renal absorption.


kidney sarcoma

description: A sarcoma involving a kidney.


name: Focal impaired awareness cognitive seizure with dyslexia/alexia

description: A focal cognitive seizure with dyslexia / alexia characterized by impairment of awareness at some point during the seizure.


P wave inversion

description: P wave below instead of above the baseline. P-wave inversion in the inferior leads may indicate a non-sinus origin of the P waves.


name: Aplasia/Hypoplasia of the phalanges of the toes


name: Abnormal connection of the cardiac segments

description: A deviance in the normal connections between two cardiac segements.


Food allergy

description: Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods.


Multiple lineage myelodysplasia

description: Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic.


male reproductive system neoplasm

description: A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma.


Fractured epiphysis of femur

description: A partial or complete breakage of the epiphysis of femur.


Cow milk allergy

description: Hypersensitivity in form of an adverse immune reaction against cow milk protein.


Intracranial cystic lesion

description: A cystic lesion originating within the brain.


renal hypoplasia

description: Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively) have a deficit in the number of nephrons and may be small. Oligomeganephronia represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied.


name: atrial septal defect, sinus venosus type

description: An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting.


name: isolated congenital growth hormone deficiency

description: Insufficient production of growth hormone.


Abnormality of the frontal hairline

description: An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not.


Anhedonia

description: Inability to experience pleasurable activities usually found enjoyable.


Acute sinusitis

description: An acute form of sinusitis.


Abnormal CSF citrulline concentration

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


name: Glomerular basement membrane lamellation

description: Presence of abnormal additional layers of the basement membrane of the glomerulus.


Abnormal renal tubular lumen morphology

description: Abnormal structure or form of the lumen (opening) of kidney tubules.


Right atrial isomerism

description: Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest.


Prominent U wave

description: Increased amplitude of the U wave, defined as an amplitude greater than 1-2mm or 25 percent of the height of the T wave.


tracheomalacia

description: Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months.


tympanic paraganglioma

description: A benign or malignant middle ear paraganglioma arising from paraganglia around the tympanum. Signs and symptoms include a mass behind the tympanum, tinnitus, and conductive hearing loss.


Myocardial bridging

description: A congenital variant of a coronary artery in which a portion of an epicardial coronary artery (most frequently the middle segment of the left anterior descending artery) takes an intramuscular course.


scimitar syndrome

description: Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt.


Left atrial enlargement

description: Increase in size of the left atrium.


Abnormal scalp morphology

description: Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows.


Chilblains

description: Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks.


Vomiting

description: Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.


Displacement of the urethral meatus

description: A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina).


Ectopic scrotum

description: Scrotum in a position other than the usual position inferior to the base of the penis.


Neuroepithelial cyst

description: A benign epithelial-lined cystic lesion that can occur anywhere in the neuraxis. Neuroepithelial cysts are ependymal or epithelial lined fluid collections of unknown etiology within the central nervous system parenchyma with no obvious ventricular or subarachnoid connection. Most cysts are asymptomatic, however, some present with seizures, mass effect, or rarely with movement disorders. On imaging, they present as CSF-like parenchymal cysts with smooth, rounded borders and minimal or no surrounding signal intensity abnormality.


Subcortical heterotopia

description: A form of heterotopia were the mislocalized gray matter is located deep within the white matter.


pili torti

description: Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome.


perineural cyst

description: Perineural (or Tarlov) cysts are cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can cause progressively painful radiculopathy.


Decreased female libido

description: Diminished sexual desire in female.


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


name: Abnormal circulating prostaglandin circulation

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


Substantia nigra gliosis

description: Focal proliferation of glial cells in the substantia nigra.


apnea of prematurity

description: Apnea of prematurity is a developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent neonatal diseases.


Granulovacuolar degeneration

description: Electron-dense granules within double membrane-bound cytoplasmic vacuoles.


thrombophilia

description: A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome.


Leucine crystalluria

description: The presence of leucine crystals in the urine.


Abnormal peer relationships

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


Thought blocking

description: The interruption of speech causes an abnormal period of silence, followed by a sudden switch to an unrelated topic. Some may describe the experience as an abrupt emptying of the mind or the belief that an external force removed their thoughts from their head.


exanthem

description: Any change in the skin which affects its appearance or texture. A rash may be localized to one part of the body, or affect all the skin. Rashes may cause the skin to change color, itch, become warm, bumpy, dry, cracked or blistered, swell and may be painful.


brain stem glioma

description: A neuroglial tumor that arises from the brain stem.


Abnormality of the periungual region

description: An abnormality of the region around the nails of the fingers or toes.


Widely spaced teeth

description: Increased spaces (diastemata) between most of the teeth in the same dental arch.


name: Elevated circulating C16 acylcarnitine concentration

description: Concentration of C16 acylcarnitines in the blood circulation above the upper limit of normal. C16 acylcarnitines have a sixteen-carbon acyl chain.


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


Elevated urine propionylglycine level

description: Amount of propionylglycine in the urine above the upper limit of normal.


glossitis

description: Inflammation of the tongue.


nail disorder

description: A disease involving the nail.


name: Increased immunoglobulin level in body fluid

description: An elevation from normal levels of immunoglobulins in body fluids, such as mucous.


Fractured tarsal bone

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


Melasma

description: Symmetrical, blotchy, brownish facial pigmentation.


Incomplete bilateral cleft lip

description: Bilateral cleft lip in which the cleft lip on both sides are incomplete (i.e. start from the bottom of the upper lip but do not reach the nasal cavity), or the cleft lip on one is incomplete and a microform on the other side.


name: Abnormality of urine catecholamine level

description: An abnormal amount of urinary catecholamine concentration.


Crouzon syndrome

description: Crouzon disease is characterized by craniosynostosis and facial hypoplasia.


Gangliocytoma

description: A low-grade central nervous system tumor composed of dysplastic ganglion cells, usually presenting in children or young adults and located in the cerebral hemispheres.


Neoplasm of the nose

description: Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity.


Autonomic status epilepticus

description: Autonomic status epilepticus is a type of non-convulsive status epilepticus without coma with prominent autonomic features regardless of whether it is electrographically generalized or focal.


Left posterior fascicular block

description: Conduction block in the posterior division of the left bundle branch of the bundle of His.


Enanthema

description: A sudden eruption (rash) of the surface of a mucous membrane of the mouth or pharynx.


Progressive leukoencephalopathy

description: Leukoencephalopathy that gets more severe with time.


Spastic hemiparetic gait

description: Spastic hemiparesis is characterized by a dominance of the tonus in the upper limb flexor muscles: the arm is held in an adducted posture and is bent and rotated inwards, the forearm is pronated and the hand and the fingers are flexed. The leg is slightly bent at the hip, the knee cannot be extended fully at the end of the stance phase and the foot is inverted and in a plantar flexed position. Gait is slow, with a wide base and asymmetrical with a shortened weight-bearing phase on the paretic side. During the swing phase, the paretic leg performs a lateral movement (circumduction) which is characteristic of this gait disorder, also termed Wernicke-Mann gait. Spastic gait problems typically worsen on attempts to walk faster.


name: Abnormality of the third metatarsal bone

description: An abnormality of the third metatarsal bone.


Coated aorta

description: Regular circumferential periaortic fibrosis involving the whole aorta and leading to a coated aorta appearance on computed tomography scans


Increased peripheral myelin thickness

description: Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion.


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


name: Prolonged bleeding after dental extraction

description: Prolonged bleeding post dental extraction sufficient to require medical intervention.


Increased CSF serine concentration

description: Abnormally increased levels of serine in cerebrospinal fluid.


Suprabasal cleavage

description: Cleavage within the suprabasal cell layer of the epidermis, which lies directly above the basal layer and is composed of five to ten layers of cells.


punctate palmoplantar keratoderma

description: A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.


name: Elevated urine trihydroxycholestanoic acid level

description: Presence of trihydroxycholestanoic acid in the urine. Trihydroxycholestanoic acid is an intermediate in the biosynthesis of cholic acid. Elevated plasma levels of trihydroxycholestanoic acid have been found in patients with Zellweger syndrome.


Periventricular laminar heterotopia

description: A large mass of heterotopia in a laminar configuration along the ventricular walls. Usually bilateral.


Pilonidal abscess

description: A hair-containing cyst or sinus usually in the coccygeal region.


ear exostoses

description: A benign bony growth projecting outward from a bone surface within the external auditory canal.


Pancreatic lymphangiectasis

description: The presence of lymphangiectasis in the pancreas.


name: Elevated circulating cholestanol concentration

description: The concentration of cholestanol in the blood circulation is above the upper limit of normal. Cholestanol is the 5-alpha-dihydro derivative of cholesterol.


name: Reduced epidermal collagen XVII protein expression


name: Elevated circulating phytanic acid concentration

description: An abnormal elevation of phytanic acid.


Micrognathia

description: Developmental hypoplasia of the mandible.


name: Abnormality of the epiphysis of the middle phalanx of the 2nd toe


Atypical sorting

description: Atypical focus on arranging, balancing, or positioning objects; may be atypical in focus or intensity.


name: Abnormal greater palatine artery morphology

description: An abnormality of a greater palatine artery.


nevus anemicus

description: A capillary vascular anomaly that is characterized by hypopigmented macules.


Restrictive ventricular septal defect

description: Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD.


Abnormal gastrointestinal motility

description: An anomaly of the muscular contractions that propel food though the gastrointestinal tract.


Abnormal brain glutamine level by MRS

description: A deviation from normal in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS).


name: Abnormal circulating acylcarnitine concentration

description: Any deviation from the normal concentration in the blood circulation of an acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.


name: Renal interstitial neutrophil infiltration

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


Frontal upsweep of hair

description: Upward and/or sideward growth of anterior hair.


name: Sclerosis of the proximal phalanx of the 2nd toe

description: An elevation in bone density in the proximal phalanx of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.


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


epidermoid cysts

description: The most common type of cutaneous cyst. It results from the proliferation of epidermal cells in a circumscribed space within the dermis. It is usually asymptomatic and presents as a firm, round nodule.


name: Venous varicosities of celiac and mesenteric vessels

description: Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein.


Elevated urinary thymine level

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


name: Abnormality of the epiphysis of the distal phalanx of the 5th toe


Renal tubular epithelial cell mitosis

description: Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration.


Palmar hyperlinearity

description: Exaggerated skin markings (dermatoglyphics) on the palms of the hand.


Slender toe

description: Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.


name: Complete heart block with broad QRS complexes

description: A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex.


Abnormal pons morphology

description: A structural abnormality of the pons.


Subungual fibromas

description: The presence of fibromata beneath finger or toenails.


Hypochondriac delusion

description: Bodily preoccupation, disease phobia, and a false fixed conviction of the presence of disease with no response to reassurance.


Cerebral cortical hemiatrophy

description: Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle.


EEG with occipital slowing

description: Slowing in occipital areas of the scalp EEG.


Focal emotional seizure with crying

description: Focal emotional seizure with crying (dacrystic) is characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present.


Abnormal hairshaft morphology

description: An abnormal structure of the hairshaft, i.e., of the nongrowing portion of a hair that protrudes from the skin.


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


Limitation of joint mobility

description: A reduction in the freedom of movement of one or more joints.


visceral heterotaxy

description: A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton.


premature ejaculation

description: A disorder characterized by persistent or recurrent ejaculation before or after penetration and before the person wishes it.


name: Elevated urine phenylpropionylglycine level

description: Level of phenylpropionylglycine in urine above upper limit of normal.


Triceps areflexia

description: Inability to elicit triceps tendon reflex.


Hypercalciuria

description: Abnormally high level of calcium in the urine.


name: Partial duplication of phalanx of the 2nd toe

description: Partial duplication of a phalanx of second toe.


name: Single ventricle of indeterminate morphology


pituitary gland disorder

description: A disease involving the pituitary gland.


Increased urinary cysteine level

description: An increased concentration of cysteine in the urine.


Brainstem dysplasia

description: A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord.


name: Perivascular pre-capillary pulmonary artery inflammation

description: Inflammatory cell infiltration surrounding precapillary pulmonary arteries (arterioles; 20-70 micrometer).


cold urticaria

description: Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cause of cold urticaria is poorly understood in most cases. Rarely, it may be associated with an underlying blood condition or infectious disease. Treatment generally consists of patient education, avoiding exposures that may trigger a reaction, and/or medications.


unilateral polymicrogyria

description: Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria.


Coronal hypospadias

description: A mild form of hypospadias in which the urethra opens just under the corona glandis.


Abnormal serum estradiol

description: A deviation from normal concentrations of estradiol in the circulation.


Increased CSF xylitol concentration

description: The concentration of xylitol in the cerebrospinal fluid is above the upper limit of normal.


Renal potassium wasting

description: High urine potassium in the presence of hypokalemia.


patella aplasia/hypoplasia

description: Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.


name: Decreased serum testosterone concentration


name: Decreased level of platelet-activating factor


4-5 toe cutaneous syndactyly

description: A soft tissue continuity in the anteroposterior axis between the toes 4 and 5.


name: Elevated urinary 2-hydroxyisocaproic acid level

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


Patchy sclerosis of hallux phalanx

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


EEG with central focal spike waves

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


Progressive hypotrichosis

description: Progressively reduced or lacking hair growth.


Metatarsus adductus

description: The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.


Pituitary microadenoma

description: A pituitary adenoma that is less than 10 mm in diameter.


sarcosinemia

description: Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency.


Tarsal sclerosis

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


Abnormality of the genitourinary system

description: The presence of any abnormality of the genitourinary system.


Cochlear nerve hypoplasia

description: A developmental defect characterized by underdevelopment of the cochlear nerve.


name: Inability to walk by childhood/adolescence


Positive infectious agent test

description: Any kind of test for an infectious agent in a specimen positive.


Idiosyncratic gesture

description: When one uses gestures that are unique to them and have no apparent meaning to others.


vulvar neoplasm

description: A benign or malignant neoplasm that affects the vulva. Representative examples include Bartholin gland adenoma, vulvar nodular hidradenoma, vulvar carcinoma, and vulvar melanoma.


Post-capillary pulmonary hypertension

description: Post-capillary pulmonary hypertension is a hemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units).


jugulotympanic paraganglioma

description: A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the base of the skull and middle ear.


Premature arteriosclerosis

description: Arteriosclerosis occurring at an age that is younger than usual.


serositis

description: Inflammation of a serous membrane.


Duplicated collecting system

description: A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice.


pulmonary hypoplasia

description: A respiratory malformation characterized by the presence of both bronchi (albeit rudimentary) and alveoli in an under-developed lobe. Both the size and the weight of the lung are reduced. The true prevalence is not well known (1.4% of all births according to Knox et al. 13), but in cases of premature rupture of membranes at 15-28 weeks gestation, the reported prevalence of pulmonary hypoplasia ranges from 9 to 28%. Factors that contribute to pulmonary hypoplasia include adequate volume of the thoracic cavity, pulmonary fluid dynamics, and abnormal fetal breathing movements.


Rokitansky-Aschoff gallbladder sinuses

description: Localized or diffuse epithelial proliferation with hypertrophy of the muscularis layer and invagination of the mucosa through the muscularis, forming intramural diverticula (i.e., small, bulging pouches in the wall of the gallbladder).


Decreased number of sweat glands

description: The presence of fewer than normal sweat glands.


Crossed fused renal ectopia

description: A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys.


Uncombable hair

description: Hair that is disorderly, stands out from the scalp, and cannot be combed flat.


Glanzmann thrombasthenia 1

description: A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia


Premature thelarche

description: Premature development of the breasts.


name: Perivascular myocardial immune cell infiltration

description: An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels.


Renal corticomedullary cysts

description: The presence of multiple cysts at the border between the renal cortex and medulla.


Abnormal CSF albumin concentration

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


cortical deafness

description: An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact.


Visceral epithelial cell capping

description: Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus.


name: Focal impaired awareness bilateral motor seizure

description: A focal bilateral motor seizure characterized by impairment of awareness at some point during the seizure.


Ectopic anus

description: Abnormal displacement or malposition of the anus.


name: Focal impaired awareness hemifacial clonic seizure

description: Focal seizure characterized at onset by clonic movements affecting half of the face with impairment of awareness in which awareness is impaired at some point during the seizure.


Parasomnia

description: An undesirable physical event or experience that occurs during the process of falling asleep, while asleep, or when waking up from sleep.


Focal cognitive seizure with illusion

description: A focal cognitive seizure characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena as the initial semiological manifestation.


Aplasia/Hypoplasia of the testes

description: Absence or underdevelopment of the testes.


Addictive amphetamine use

description: Addiction to amphetamine or dextroamphetamine is a serious concern.


amastia

description: Absence of one or both mammary glands.


Increased circulating antibody level

description: An increased level of gamma globulin (immunoglobulin) in the blood.


detrusor sphincter dyssynergia

description: A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation.


Abnormality of the posterior hairline

description: An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair.


Hepatic artery hyperplasia

description: Abnormal increase in size of the hepatic arteries.


Cross bite

description: Lingual occlusion of buccal cusps and/or incisal edge of maxillary teeth to the buccal cusps and/or incisal edge of mandibular teeth.


Fibrotic muscularis propria

description: The presence of excessive fibrous connective tissue in the muscularis propria of the intestine. Fibrosis is a reparative or reactive process.


name: Severely reduced left ventricular ejection fraction

description: A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent.


name: Increased urinary N-acetylglucosamine-rich oligosaccharide level

description: Presence of N-acetylglucosamine-rich oligosaccharides in the urine.


Palmoplantar cutis gyrata

description: Cutis gyrata of palms and soles.


Poikiloderma

description: Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.


name: Fragmentation of the epiphysis of the proximal phalanx of the hallux


name: Abnormal morphology of left ventricular trabeculae

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


name: Self-mutilation of tongue and lips due to involuntary movements

description: Uncontrolled movements result in tissue damage to the tongue and lips.


name: Impaired ability to form peer relationships

description: Difficulty to establish relations with others in a comparable social group (peers) that may be manifested in pehnomena such as not being able to initiative a conversation, undersand social cues, or to discuss shared interests. This feature is associated with poor integration within a community or group.


Abnormal fetal heart outflow tract

description: A prenatal anomaly of the outflow tract. Fetal ultrasound may not always be able to easily and accurately describe the outflow anomaly, but can detect abnormal anatomy. Often, follow up with a fetal echo is recommended, but fetal ultrasound is limited.


Sertoli cell hyperplasia

description: Abnormal increase in the number of Sertoli cells in the testis.


Posterior pituitary hypoplasia

description: Underdevelopment of the neurohypophysis.


Abnormal P wave

description: Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria.


Delayed ability to walk with support

description: A failure to achieve the ability to walk with support (cruise) at an appropriate developmental stage.


Multifocal seizures

description: Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations).


Dermal microfilaria

description: Presence of filariae in the skin.


Aortic tortuosity

description: Abnormal tortuous (i.e., twisted) form of the aorta.


name: Sclerosis of the distal phalanx of the 2nd toe


Reduced brain creatine level by MRS

description: A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).


urethra neoplasm

description: A neoplasm (disease) that involves the urethra.


coronary microvascular disorder

description: A disorder affecting the smallest coronary arteries. Causes include atherosclerosis and arterial spasm. Chest pain is a frequently observed symptom.


chondrocalcinosis

description: An acute episode of pain, swelling, and redness, sometimes associated with fever. It is caused by the deposition of calcium pyrophosphate crystals in the joints.


Unusual skin infection

description: A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection.


T-wave alternans

description: A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG.


Neurodevelopmental abnormality

description: A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities.


Mesangial hyaline deposition

description: Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material.


athetoid cerebral palsy

description: A subtype of cerebral palsy characterized by involuntary, purposeless writhing movements which affect the hands, feet, arms, and legs; the face and tongue may be affected as well, leading to involuntary grimacing, drooling, dysarthria and difficulty eating.


Splenomegaly

description: Abnormal increased size of the spleen.


sacrococcygeal teratoma

description: A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns.


Aggression towards caregivers

description: Aggression that is directed towards caregivers.


name: Abnormal morphology of the proximal phalanx of the hallux

description: An abnormal shape or form of the proximal phalanx of the big toe.


Hyperphosphaturia

description: An increased excretion of phosphates in the urine.


Esophageal fibrosis

description: Fibrosis located in the subepithelial portion of the esophagus. Fibrosisis is defined by the overgrowth, hardening, and/or scarring of various tissues and is attributed to excess deposition of extracellular matrix components including collagen.


name: Elevated methylhex-dienedioic level by MRS

description: An increase in the level of 3-methylhex-2,4-dienedioic acid or 3-methylhex-3,4-dienedioic acid in the brain identified by magnetic resonance spectroscopy (MRS).


Burkitt lymphoma

description: Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma.


Elevated urinary beta-alanine level

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


Poor fine motor coordination

description: An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes.


Gastrointestinal inflammation

description: Inflammation of the alimentary part of the gastrointestinal system.


Global systolic dysfunction

description: A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly.


juvenile myelomonocytic leukemia

description: A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)


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


Generalized atonic seizure

description: Generalized atonic seizure is a type of generalized motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1-2 s, involving head, trunk, jaw, or limb musculature.


Spinal hemangioblastoma

description: A hemangioblastoma of the spinal cord.


Onychogryposis of fingernail

description: Thickened fingernails.


gingival overgrowth

description: Excessive growth of the gingiva either by an increase in the size of the constituent cells (gingival hypertrophy) or by an increase in their number (gingival hyperplasia). (From Jablonski's Dictionary of Dentistry, 1992, p574)


tracheal stenosis

description: Narrowing of the lumen of the trachea.


Dilatation of an abdominal artery

description: Abnormal outpouching or sac-like dilatation in an artery that originates from the abdominal aorta.


Hoffmann sign

description: A Hoffmann test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test.


Maternal first trimester fever

description: The occurence of fever in a mother during the first trimester of pregnancy.


Orotic acid crystalluria

description: Formation of crystals owing to an increased concentration of orotic acid in the urine.


EEG with frontal focal spikes

description: EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region.


Focal aware manual automatism seizure

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


Multiple trichilemmomata

description: Presence of multiple trichilemmomata, a benign tumor originating from the outer root sheath of the hair follicle.


Fractured proximal phalanx of digit 3

description: A partial or complete breakage of the proximal phalanx of digit 3.


Avoidance of emotional intimacy

description: An atypically high tendency to avoid interpersonal exchanges characterizing by sharing of personal feelings, expressions of understanding, affirmation, and demonstrations of caring.


Vertebral artery hypoplasia

description: Underdevelopment of the vertebral artery.


Gemination

description: The development of two teeth from a single tooth bud, leading to a larger fused tooth.


Duplicated clitoris

description: Supernumerary clitoris.


name: Abnormal urinary non-proteinogenic amino acid level

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


Compensatory scoliosis

description: A scoliosis which is the results of a difference in leg length (which might be due to hemihypertrophy or hemihypotrophy of a leg) and the resulting tilting of the pelvis. If untreated this will lead to the development of scoliosis over time.


Focal aware motor seizure with version

description: A focal motor seizure with version characterized by retained awareness throughout the seizure.


Necrotizing pulmonary granulomatosis

description: A granuloma that is associated with necrotic changes. Caseation necrosis is defined as a region in granulomas with eosinophilic, granular and cheese-like cellular debris with necrosis. The word caseous itself means pertaining or related to cheese, and comes from the Latin word caseus, meaning cheese.


Mesangial amyloid deposition

description: Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass.


Bleeding requiring red cell transfusion

description: Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4).


name: Sensory hyposensitivity unexplained by sensory deficit

description: Increased tolerance to sensory stimuli due to diminished sensory ability.


name: Decreased proportion of CD4-positive helper T cells

description: A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count.


epilepsia partialis continua

description: A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. electroencephalography demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the cerebral cortex or from subcortical structures (e.g., brain stem; basal ganglia). This condition is associated with Russian Spring and Summer encephalitis (see encephalitis, tick borne); Rasmussen syndrome (see encephalitis); multiple sclerosis; diabetes mellitus; brain neoplasms; and cerebrovascular disorders. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)


Fabry disease

description: Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.


Intestinal hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, located in the intestines, which includes the bowel.


Claustrophobia

description: An abnormal fear of being in a closed or narrow space with no escape is called claustrophobia.


46,XX disorder of sex development

description: Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures.


Skin nodule

description: Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat.


Congenital absence of foreskin

description: Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis.


Ossifying fibroma of the jaw

description: A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed.


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

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


name: Medullary peritubular capillary intraluminal thrombi

description: Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the medulla of the kidney.


name: Metaphyseal cupping of proximal phalanges

description: Metaphyseal cupping affecting the proximal phalanges.


Type I truncus arteriosus

description: Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries.


Peripheral axonal distension

description: An abnormal histological finding characterized by an increase in the cross-section area of peripheral nerve axons (up to 20-25 micrometers in diameter).


Anticipatory anxiety

description: A state characterized by future-oriented worry, accompanied by negative affect and autonomic arousal.


name: Partial absence of the septum pellucidum

description: Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain.


Open comedo

description: A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black.


Abnormal intrarenal vein morphology

description: Abnormal structure of a vein located inside the kidney parenchyma.


Meat allergen allergy

description: Hypersensitivity in form of an adverse immune reaction against allergens contained in meat products.


Generalized tonic seizure

description: A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.


Intestinal hypoplasia

description: Developmental hypoplasia of the intestine.


name: Symphalangism affecting the distal phalanx of the 5th toe


Tracheal atresia

description: A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking.


facial spasm

description: Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face.


EEG with temporal sharp slow waves

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


urethritis

description: Inflammation of the urethra.


Decreased cardiac index

description: A reduced cardiac index, defined as cardiac output divided by body surface area.


cervical dystonia

description: Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia).Most commonly, the head turns to one side or the other.Tilting sideways, or to the back or front may also occur.The turning or tilting movements may be accompanied by shaking movement (tremor) and/or soreness of the muscles of the neck and shoulders.Cervical dystonia can occur at any age, but most cases occur in middle age. It often begins slowly and usually reaches a plateau over a few months or years. The cause of cervical dystonia is often unknown. In some cases there is a family history. Several genes have been associated with cervical dystonia, including GNAL, THAP1, CIZ1, and ANO3. Other cases may be linked to an underlying disease (e.g. Parkinson disease), neck trauma, or certain medications. Treatment may include local injections of botulinum toxin, pain medications, benzodiazepines (anti-anxiety medications), anticholinergics,physical therapy, or surgery.


Nevus sebaceus

description: A solitary yellow-orange slightly raised plaque typically on scalp or face. The plaque typically thickens and becomes more verrucous or pebbly during childhood.


name: Increased level of N-acetylneuraminic acid in urine

description: An increase in the level of N-acetylneuraminic acid in the urine.


Frontoparietal cortical dysplasia

description: The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe.


Renal arteriole intima/media necrosis

description: Cell death (necrosis) in the inner or middle layer of the arterioles of the kidney.


Skin fissure

description: A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis.


name: Abnormal circulating nitrogen compound concentration

description: Any deviation from the normal concentration of a nitrogen compound in the blood circulation.


Tremor

description: An unintentional, oscillating to-and-fro muscle movement about a joint axis.


Reduced urinary inosine level

description: The amount of inosine in the urine, normalized for urine concentration, is below the lower limit of normal. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond.


Short proximal phalanx of the 2nd toe

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


Fractured metatarsal bone of digit 4

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


EEG with burst suppression

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


Intellectual disability, profound

description: Profound mental retardation is defined as an intelligence quotient (IQ) below 20.


Left bundle branch block

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


Hepatic sinusoidal dilatation

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


Upper lip pit

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


Impaired tandem gait

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


Ileocecal ulcer

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


name: Proximal/middle symphalangism of 2nd toe

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


craniorachischisis

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


Spasticity of facial muscles

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


Elevated urinary 2-oxoisocaproic level

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


name: Confetti hypopigmentation pattern of lower leg skin


name: Focal EEG discharges with propagation to ipsilateral hemisphere

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


Abnormal myocardium morphology

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


Webbed penis

description: Ventral skinfold extending from penis to scrotum.


name: Elevated urine 3-methyladipic acid level

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


name: Abnormal extrahepatic bile duct morphology


middle cerebral artery infarction

description: Necrosis occurring in the middle cerebral artery distribution system which brings blood to the entire lateral aspects of each cerebral hemisphere. Clinical signs include impaired cognition; aphasia; agraphia; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction.


Focal automatism seizure

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


name: Focal autonomic seizure with pallor/flushing

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


Decreased portal vein velocity

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


parathyroid hyperplasia

description: A hyperplasia that involves the parathyroid gland.


Incomplete cleft of the upper lip

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


Abnormal seminal vesicle morphology

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


Sterile arthritis

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


Macrozoospermia

description: Increased size of the head of sperm.


name: Tetralogy of Fallot with pulmonary stenosis

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


name: Abnormal size of nasopharyngeal adenoids

description: A deviation in the size of nasopharyngeal adenoids.


Abnormal femoral artery morphology

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


Plantar pits

description: The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot.


Localized hirsutism

description: Abnormally increased hair growth with a localized distribution.


Flight of ideas

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


name: Abnormal cortical peritubular capillary morphology

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


Acute otitis media

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


Abnormal coronary artery course

description: An abnormal path of a coronary artery.


pyoderma gangrenosum

description: Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate.


Arachnoid hemangiomatosis

description: The presence of multiple hemangiomas in the arachnoid.


Enteroviral hepatitis

description: Inflammation of the liver due to infection with enterovirus.


myofibrillar myopathy

description: Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients.


Narrow nail

description: Decreased width of nail.


Plant product allergy

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


hydrops fetalis

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


Status cribrosum

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


Myelin outfoldings

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


Increased HDL2a concentration

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


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


Amplification of relationship seeking

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


APUdoma

description: An endocrine tumor arising from an APUD cell.


spastic quadriplegic cerebral palsy

description: A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities.


Decreased serum bile acid concentration

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


Myocardial calcification

description: Calcium deposition in the myocardium.


subependymal giant cell astrocytoma

description: A benign, slowly growing tumor (WHO grade I) typically arising in the wall of the lateral ventricles and composed of large ganglioid astrocytes. It is the most common CNS neoplasm in patients with tuberous sclerosis complex and typically occurs during the first two decades of life. (WHO)


Dysmorphic inferior cerebellar vermis

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


Premature ventricular contraction

description: Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node.


Progressive language deterioration

description: Progressive loss of previously present language abilities.


Short middle phalanx of the 2nd toe

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


alveolar rhabdomyosarcoma

description: A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities.


tumor of parathyroid gland

description: A neoplasm (disease) that involves the parathyroid gland.


Hand dimple

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


Abnormality of dental structure

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


name: Hyperchromasia of renal tubular epithelial cells

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


Abnormal urinary guanosine level

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


Fractured proximal phalanx of digit 2

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


Saccular aortic arch aneurysm

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


XK aprosencephaly

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


lipodystrophy

description: A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body.


Intrarenal abscess

description: An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis.


Elevated urine pyridinoline level

description: An increased amount of pyridinoline in the urine.


Hyperconvex toenail

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


Simplified gyral pattern

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


Brain imaging abnormality

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


Acute colitis

description: An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum).


impacted teeth, multiple

description: The presence of multiple impacted teeth.


Fragmented elastic fibers in the dermis

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


Aplasia of the vestibular nerve.

description: Absence of the vestibular nerve


autosomal dominant cerebellar ataxia

description: A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.


Abnormal penile discharge

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


Abnormality of mental function

description: Cognitive, psychiatric, or memory anomaly.


name: Renal arteriole leukocytic endoarterial hypercellularity

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


Absent patellar reflexes

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


lipomatosis

description: A neoplastic process characterized by diffuse overgrowth of mature adipose tissue.


Absent hallux

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


parathyroid gland disorder

description: A disease involving the parathyroid gland.


Hypergranulosis

description: Hypergranulosis is an increased thickness of the stratum granulosum.


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


ependymoma

description: A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes. (WHO)


Small intestinal stenosis

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


Microprolactinoma

description: A pituitary prolactin cell adenoma of less than 10 mm diameter.


Toe joint contracture

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


metabolic acidosis

description: Increased acidity in the blood secondary to acid base imbalance. Causes include diabetes, kidney failure and shock.


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

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


Migratory arthritis

description: A form of reactive arthritis in which the inflammation moves between joints.


name: White mater abnormalities in the posterior periventricular region


adrenal medulla neoplasm

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


Temporal artery giant cells

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


Aplasia of the falx cerebri

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


Aortopulmonary collateral arteries

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


name: Arcuate artery intima/media coagulative necrosis

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


isolated cerebellar hypoplasia/agenesis

description: Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures.


name: Atrophy/Degeneration involving the corticospinal tracts


name: congenital absence of upper arm and forearm with hand present

description: A congenital malformation in which the upper portion of a limb is either shortened or absent.


Self-healing squamous epithelioma

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


name: Elevated alkaline phosphatase of hepatic origin

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


Lipoma of the tongue

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


name: Patchy sclerosis of proximal toe phalanx

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


tracheal calcification

description: Abnormal deposits of calcium in the tracheal tissue.


Focal motor seizure with version

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


Abnormal CSF glucose concentration

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


Elevated urinary glutarylglycine level

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


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

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


Cardiac myxoma

description: A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origin and general project from the endocardium into a cardiac chamber.


Staghorn calculus

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


Transmantle columnar heterotopia

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


Reverse typical atrial flutter

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


hypercalcemia disease

description: Abnormally high concentration of calcium in the peripheral blood.