name: Decreased circulating complement C3 concentration

description: Concentration of the complement component C3 in the blood circulation below the lower limit of normal.


Ivory epiphyses of the 3rd toe

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

description: Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


Abnormal neck blood vessel morphology

description: An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck.


name: Thickened glomerular basement membranes with electron dense deposits


name: Abnormal proportion of class-switched memory B cells

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


Lower thoracic kyphosis

description: Over curvature of the lower thoracic region, leading to a round back or if sever to a hump.


Myeloschisis

description: The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane.


name: Abnormality of the common coagulation pathway

description: An abnormality of blood coagulation, common pathway.


name: Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count

description: A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells.


Absent cremaster reflex

description: Lack of response to scratching of the skin of the medial thigh, which in males normally elicits a brisk, short elevation of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex.


Palate telangiectasia

description: The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate.


Abnormal metacarpal ossification

description: Any abnormal process of ossification of the metacarpal bones, which normally are each ossified from two centers: one for the body, and one for the head (metacarpal II,III,IV, and V) and one for the body and one for the base (metacarpal I). At the eighth to ninth week of fetal life, ossification commences in the middle of the body. At the third year the distal extremities of the metacarpals of the fingers and the base of the metacarpal of the thumb begin to ossify; they unite with the bodies at about the twentieth year.


Oral cavity telangiectasia

description: Presence of telangiectases in the oral cavity.


name: Mosaic attenuation pattern on pulmonary HRCT

description: A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography.


name: Subluxation of the proximal interphalangeal joint of the little finger

description: A partial dislocation of the proximal interphalangeal joint of the little finger.


Truncal titubation

description: Tremor of the trunk in an anterior-posterior plane at 3-4 Hz.


Advanced ossification of the hand bones

description: Ossification of hand bones at an earlier age than normal.


name: Increased circulating purine concentration

description: Abnormally elevated concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring.


Abnormal hand cortical bone morphology

description: An anomaly of the outer shell (cortex) of a hand bone.


Decreased circulating progesterone

description: An reduced concentration of progesterone in the blood.


Tracheal rupture

description: A break or tear in the trachea.


name: Abnormal circulating enzyme concentration or activity

description: Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.


Abnormal vas deferens morphology

description: A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct.


Anti-GT1a IgG antibody positivity

description: The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside.


name: Absence of bactericidal oxidative respiratory burst in phagocytes

description: An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity.


Intestinal lymphoid nodular hyperplasia

description: A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centers are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centers; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine.


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


Abnormal finger phalanx morphology

description: Abnormalities affecting the phalanx of finger.


name: Glomerular amyloid subepithelial deposits

description: A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).


Small pituitary gland

description: An abnormally decreased size of the pituitary gland.


Increased proportion of HLA DR+ T cells

description: An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation.


Ulnar bowing

description: Bending of the diaphysis (shaft) of the ulna.


Abnormal lingual artery morphology

description: Any structural abnormality of a lingual artery.


Myelin tomacula

description: The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage).


name: Granulomatous arteriolitis of the arteriolar intima/media

description: A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.


Visceral epithelial cell hyperplasia

description: Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium.


Agenesis of first permanent molar tooth

description: Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both.


name: Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena

description: A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by impaired awareness at some point during the seizure.


name: Abnormality of the epiphyses of the feet

description: Any abnormality of the epiphyses of the feet.


Cervical spine instability

description: An abnormal lack of stability of the cervical spine.


Bacterial cell casts

description: A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection.


name: spondyloepimetaphyseal dysplasia, Strudwick type

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

description: A spondyloepimetaphyseal dysplasia characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).


Reduced cooperative play

description: Impairment in a child's ability to be able to play in a way that involves peer collaboration. Collaborative play involves things such as verbal and non-verbal communication (e.g., self-initiated interactions), turn-taking, sharing, reciprocity, and collaborative problem-solving. It is often contrasted to parallel play, which involves a form of social play in which two children do similar activities near each other and often mimic each other. Typically developing children develop collaborative play between the ages of 4 and 5.


name: Reduced muscle phosphoglycerate mutase activity

description: Activity of the enzyme Phosphoglycerate mutase (PGM) in muscle tissue is below the lower limit of normal. PGM is an enzyme that catalyzes step 8 of glycolysis (EC 5.4.2.11).


name: Muscle fiber granulofilamentous inclusion bodies

description: The presence of inclusion bodies within the cytoplasm of muscle cells that contain a mxiture of granules and filaments.


Anti-Iglon5 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against immunoglobulin-like cell adhesion molecule 5 (IgLON5).


Gastrointestinal duplication

description: A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus.


name: Abnormal morphology of the proximal phalanx of the 3rd toe

description: An anomaly of the proximal phalanx of third toe.


name: Abnormal respiratory epithelium morphology

description: Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi.


Absent metacarpal epiphyses

description: Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals.


Pulmonary capillary angioectasia

description: Focal accumulation of dilated pulmonary capillaries.


Long thumb

description: Length of the thumb is greater than normal.


description: Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Dagger-shaped pulp calcifications

description: Dagger-shaped calcifications in the dental pulp.


Kommerell diverticulum

description: Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture.


Ectopic respiratory mucosa

description: Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localized unilateral in the skin of the forearm and associated with ipsilateral hand malformations.


Medium vessel vasculitis

description: A type of vasculitis (inflammation of blood vessel walls) that affects medium-sized blood vessels. By common usage, vasculitis predominantly refers to arterial disease. Medium-sized vasculitis is observed in diseases including polyarteritis nodosa, Kawasaki disease, and cutaneous polyarteritis nodosa.


Abnormal humeral ossification

description: An anomaly of the process of formation of bone in the humerus.


name: Abnormality of the epiphysis of the 5th metacarpal

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


Tachyphagia

description: Excessively rapid eating of food.


polydactyly

description: A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms.


alobar holoprosencephaly

description: Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure.


Metaphyseal irregularity

description: Irregularity of the normally smooth surface of the metaphyses.


name: Segmentally thickened glomerular basement membrane

description: Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals.


name: Glomerular parietal epithelial cell hyperplasia

description: Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering.


name: Abnormal cellular immune system morphology

description: An abnormality of the morphology or counts of the cells that make up the immune system.


Abnormal coronary artery origin

description: Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries.


Visual sensory seeking

description: Pursuit visual stimulation by looking at specific sights, images, and/or colors that is abnormal in intensity and/or frequency.


Interosseus muscle atrophy

description: Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones.


name: Focal cognitive seizure with memory impairment

description: A focal cognitive seizure characterized by transient memory impairment as the initial semiological manifestation whilst other cognitive functions and awareness are preserved at seizure onset. The memory impairment may be an inability to recall events occurring prior to the seizure (retrograde amnesia), or failure to encode new memories for events occurring during the seizure (anterograde amnesia).


name: Nodular septal thickening on pulmonary HRCT

description: Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa.


Impaired proprioception

description: A loss or impairment of the sensation of the relative position of parts of the body and joint position.


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


Internal notch of the femoral head

description: A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546.


Duplication of thumb phalanx

description: Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Hepatopulmonary fusion

description: Fusion of the liver with the lung.


Vaginal hernia

description: The presence of a hernia of the vagina.


regional odontodysplasia

description: Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues.


Abnormal hip bone morphology

description: An abnormality of the hip bone.


Mesenteric torsion

description: Mesenteric torsion is a pathological rotation of the intestinal tract around the axis of the mesenteric root, resulting in rapid occlusion of the cranial mesenteric artery.


name: Abnormal autonomic nervous system morphology

description: A structural abnormality of the autonomic nervous system.


name: Focal cognitive seizure with dissociation

description: A focal cognitive seizure characterized by an experience of being disconnected from, though aware of, self or environment as the initial semiological manifestation.


Widened cerebral subarachnoid space

description: An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum.


Middle cerebral artery stenosis

description: Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery.


Hypopigmented genitalia

description: Localized or generalized decreased genital pigmentation.


name: Decreased circulating aspartic acid concentration

description: An reduced concentration of aspartic acid in the blood circulation.


name: Diminished prolactin response to thyrotrophin-releasing hormone stimulation

description: The increase in prolactin concentration (PRL) following stimulation with thyrotropin (thyrdoid releasing hormone) as compared to baseline PRL concentration is below the lower limit of normal.


description: Any deviation from the normal level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.


Tessier number 12 facial cleft

description: There is a soft tissue cleft medial to the inner canthus with a cleft of the root of the eyebrow. The frontal process of the maxilla is flat and broadened, and the ethmoid labyrinth is increased in tranverse dimension, thereby producing orbital hypertelorism. The cribriform plate is of normal width. The frontal sinus is enlarged. Even though the frontal bone is flattened, bony clefts with encephalocele have not been observed. There is a lateral displacement of the inner canthus with a mild thinning, aplasia, or irregularity of the medial end of the eyebrow. There are no eyelid clefts. The soft tissue contour of the forehead is normal, with only a short downward prolongation of the paramedian frontal hairline to mark the superior extent of the soft tissue cleft. Flattening of the frontal process of the maxilla, an increase in the transverse dimension of the ethmoid sinus, and a laterally convex bowing of the medial orbital wall produce orbital hypertelorism. Superiorly there is a minor flattening of the frontal bone medially, and the nasofrontal angle is somewhat obtuse. The extensive pneumatization of the sinuses on the cleft side extends backward through the frontal and ethmoid sinuses and into the sphenoid sinus. The anatomy of the sphenoid, including the pterygoid processes, is otherwise normal. The anterior and middle cranial fossae floors are both broadened on the cleft side with minor widening of the cribriform plate.


Restlessness

description: A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior.


Elevated CSF fumarate concentration

description: An increased concentration of fumarate, an intermediate in the citric acid cycle, in the cebrebrospinal fluid.


name: Lytic defects in metaphyses of the upper limbs


Renal interstitial hemosiderin

description: Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney.


Narrow nasal bridge

description: Decreased width of the bony bridge of the nose.


Sclerosis of hallux phalanx

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


Abnormality of the submandibular region

description: Any abnormality of the submandibular region, the region between the mandible and the hyoid bone contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery.


Recurrent bronchiolitis

description: An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis.


name: Elevated circulating deoxypyridinoline concentration

description: An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the blood circulation.


brain aneurysm

description: A congenital or acquired aneurysm within the cranium.


Objectification of others

description: A tendency to interact with others as if they are objects with functional purpose rather than engaging in social/emotional interactions.


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

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


Intercrural pterygium

description: A pterygium (or pterygia) in the intercrural (groin) region.


Absent facial hair

description: Absence of facial hair.


Bifid humerus

description: Clefting affecting the humerus.


Mozart ear

description: A congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus.


name: Increased urine hexacarboxylporphyrin level

description: Concentration of hexacarboxylporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal.


Increased muscle fatiguability

description: An abnormal, increased fatiguability of the musculature.


Abnormal muscle physiology

description: A functional abnormality of a skeletal muscle.


Additional crus of antihelix

description: Supernumerary ridge or crus of the ear arising from the antihelix.


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


Ovotestis

description: A gonad that contains both ovarian follicles and testicular tubular elements.


Abnormal circulating inhibin level

description: Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone.


name: Abnormal circulating C-peptide concentration

description: An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion.


name: Elevated circulating methylmalonylcarnitine concentration

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


Aplasia/Hypoplasia of the sacrum

description: Aplasia or developmental hypoplasia of the sacral bone.


Bullet-shaped distal toe phalanx

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


2,8-dihydroxyadenine crystalluria

description: The presence of 2,8-dihydroxyadenine crystals in the urine. The crystals appear as round, yellow-brown crystals.


name: Coarctation of the descending aortic arch

description: Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta.


Podocyte myelin figures

description: Lamellated intracytoplasmic lipid inclusions within podocytes.


Mosaic attenuation pattern in lung

description: Mosaic attenuation pattern in the lung is a term used to describe regions of differing pulmonary attenuation on CT imaging. It is a non-specific finding, although is associated with several conditions such as obstructive small airway disease, occlusive vascular disease (in which case is called mosaic perfusion pattern), pulmonary edema, and parenchymal diseases.


Spontaneous pain sensation

description: Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger.


Abnormal bone structure

description: Any anomaly in the composite material or the layered arrangement of the bony skeleton.


name: Elevated circulating glycolate concentration

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


Spastic tetraparesis

description: Spastic weakness affecting all four limbs.


Increased CSF ribose concentration

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


name: Symphalangism affecting the middle phalanx of the 3rd toe


name: Increased amyloid beta 40 peptide CSF concentration

description: An elevation above the normal concentration of amyloid beta 40 peptide in the cerebrospinal fluid (CSF).


name: Decreased circulating androstenedione concentration

description: Reduced concentration of androstenedione in the blood circulation.


Alcohol-induced rhabdomyolysis

description: Rhabdomyolysis induced by intake of alcohol.


Small basal ganglia

description: Decreased size of the basal ganglia.


Short 4th metacarpal

description: Short fourth metacarpal bone.


name: Posterior scalloping of vertebral bodies

description: An excessive concavity of the posterior surface of one or more vertebral bodies.


Clubbing

description: Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.


Coma

description: The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.


Papillary cystadenoma of the epididymis

description: A cystadenoma, an epithelial tumor, that originates within the head of the epididymis.


Elevated urinary deoxyuridine level

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


Peau d'orange

description: Swelling and dimpling of the surface of the skin, which is typically associated with carcinoma of the breast.


Proximal radial head dislocation

description: A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction.


Renal arteriole medial atrophy

description: Atrophy (wasting, decreased thickness) of of the middle layer of the arterioles of the kidney.


Generalized-onset epileptic spasm

description: A type of epileptic spasm of generalized onset.


description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against contactin-associated protein-like 2 (CASPR2).


Punding

description: Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects.


Frontalis muscle weakness

description: Reduced strength of the frontalis muscle (which is located on the forehead).


name: seizures-intellectual disability due to hydroxylysinuria syndrome

description: Seizures-intellectual disability due to hydroxylysinuria syndrome is characterized by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient.


Addictive sex behavior

description: Inability to control or manage sexual urges, fantasies, or behaviors that impair one's ability to function.


name: Progressive intervertebral space narrowing

description: A progressive form of decreased height of the intervertebral disk.


name: Aplasia/hypoplasia of the proximal phalanx of the 3rd toe

description: Absence (agenesis) or underdevelopment of the proximal phalanx of the 3rd toe.


Broad forehead

description: Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.


Celiac artery dissection

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


name: Increased circulating arachidonic acid concentration

description: An increased circulation of arachidonic acid in the blood circulation.


Vaginal atresia

description: Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion.


Urinary bladder neurofibroma

description: A neurofibroma (benign peripheral nerve sheath tumor) located in the urinary bladder.


name: Positive oropharynx poliovirus nucleic acid test

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


Abnormal fourth toe morphology

description: An anomaly of the fourth toe.


Severe expressive language delay

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


name: Right aortic arch with retroesophageal diverticulum of Kommerell

description: Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch.


Perihepatic adhesions

description: Abnormal union of the membranous surfaces of the liver capsule and the parietal peritoneum due to inflammation or injury. Adhesions may be visualized by laparoscopy and may have a violin string appearance.


Abnormality of the premaxilla

description: An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate.


Distal upper limb muscle weakness

description: Reduced strength of the distal musculature of the arms.


Prenatal movement abnormality

description: An abnormality of fetal movement.


Aplasia of the bladder

description: Aplasia (absence) of the urinary bladder.


Abnormal natural killer cell physiology

description: A functional anomaly of the natural killer cell.


Increased serum serotonin

description: A increased concentration of serotonin in the blood.


name: Abnormal large intestinal mucosa morphology

description: A structural anomaly of the mucous lining of the large intestine.


name: Cortical radial artery medial/intimal arteriitis

description: Inflammation of a the intima or the entire wall of cortical radial arteries (also known as the interlobular arteries) of the kidney.


name: Increased pulmonary capillary wedge pressure

description: Pulmonary capillary wedge pressure (PCWP) above 15mmHg.


Limited knee flexion/extension

description: A limited ability of the knee joint to perform extension and flexion.


name: Focal hypointensity of cerebral white matter on MRI


name: Elevated circulating hexacosanoic acid concentration

description: Elevated concentration of hexacosanoic acid (a C26 straight-chain saturated fatty acid) in the blood circulation.


name: Focal aware emotional seizure with laughing

description: Focal emotional seizure with laughing in which awareness is retained throughout.


Moderate receptive language delay

description: A moderate delay in the acquisition of the ability to understand the speech of others.


Common atrium

description: Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections.


name: Bracket epiphysis of the middle phalanx of the 3rd finger

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


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


Abnormal pulmonary fissure morphology

description: An abnormal form or number of the pulmonary fissures.


topographical agnosia

description: An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognize objects.


Deviated nasal tip

description: Nasal tip positioned to one side of the midline.


Calcaneovalgus deformity

description: This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus).


Increased glucagon level

description: An elevated concentration of glucagon in the blood circulation.


Bile duct proliferation

description: Proliferative changes of the bile ducts.


Persistent falcine venous sinus

description: A falcine sinus that does not involute but persists beyond birth is defined as a persistent falcine sinus. In the 20-mm embryo stage, the primitive falx cerebri contains the sagittal plexus, a meshwork of anastomotic venous channels from which the superior sagittal sinus and straight sinus are thought to develop. A persistent falcine sinus represents a persistent channel of the caudal anastomotic loops of the sagittal plexus.


colpocephaly

description: Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken.


Large carpal bones

description: Increased size of carpal bones.


Bent sperm neck

description: Sharply angled insertion of the neck and midpiece into the head of a spermatozoon. This term applies if the proportion of spermatozoa with this feature is above the upper limit of normal.


Anti-factor H antibody positivity

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


scapuloperoneal myopathy

description: A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.


Abnormal acetabulum morphology

description: An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint.


name: High nonceruloplasmin-bound serum copper

description: An increased concentration of non ceruloplasmin bound copper in the blood.


Abnormality of procerus muscle

description: An abnormality of a procerus.


odontogenic neoplasm

description: A benign or malignant neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Benign tumors are slow growing and are not associated with specific clinical symptoms. Pain is absent or slight. Malignant tumors are usually associated with rapid swelling and pain.


Severe giardiasis

description: An unusually severe infection due to Giardia lamblia, also called Giardia duodenalis or Giardia intestinalis, which is a protozoan parasite of the small intestine that causes extensive morbidity worldwide.


name: Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells

description: An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.


Enlarged thumb epiphysis

description: Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms.


Glabellar reflex

description: A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign.


name: Left superior vena cava draining to coronary sinus

description: A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence.


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


name: Complete duplication of the proximal phalanx of the 4th toe


Slender long bone

description: Reduced diameter of a long bone.


name: EEG with generalized polymorphic epileptiform discharges

description: Generalized epileptiform discharges of different shapes and frequencies.


name: Anti-chlamydia trachomatis-specific antibody positivity

description: The presence of antibodies in the blood circulation that react against a component of chlamydia trachomatis.


name: hypothyroidism, congenital, nongoitrous, 2

description: A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13.


Fixed head retroflexion

description: Head is bent in the posterior direction in a permanent fashion.


Decreased circulating 12-HETE

description: A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid.


Mesangial Immune complex deposition

description: Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit.


Absent lanugo

description: Lack of development of lanugo, the fine, soft, unpigmented hair on the body of a fetus or newborn baby.


name: Anti-neurofascin 186 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF186.


name: Failure to elevate ammonia on ischemic exercise

description: Normal subjects display an increase in the concentration of ammonia in the blood following an ischemic exercise test. This term refers to an increase in ammonia that is below the lower limit of normal.


Increased proportion of naive B cells

description: An elevation above the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.


Emotional lability

description: Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.


name: Anomalous origin of the left anterior descending artery from the pulmonary artery

description: The left anterior descending artery (LAD) branches off from the pulmonary artery.


Abnormality of the sphenoid sinus

description: An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone.


name: Abnormal liver function tests during pregnancy


name: Duplication of the phalanges of the 2nd toe

description: Partial or complete duplication of a phalanx of second toe.


Increased intracellular sodium

description: An abnormally increased sodium concentration in the cytosol.


Increased serum estrone

description: An elevation above normal limits of the concentration of estrone in the circulation.


name: Focal impaired awareness sensory seizure with auditory features

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


Focal aware hyperkinetic seizure

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


Antigliadin antibody positivity

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


Intrahepatic bile duct cysts

description: The presence of cyst of the intrahepatic bile duct.


Abnormal ciliary motility

description: Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions.


Abnormality of the hand

description: An abnormality affecting one or both hands.


Abnormal serum anion gap

description: Any deviation from the normal value of the serum anion gap, which is calculated from the electrolytes measured in the chemical laboratory, is defined as the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration.


Enhancement of the C-reflex

description: Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response.


name: Stippling of the epiphysis of the proximal phalanx of the 3rd finger

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger.


Abnormal pulmonary valve physiology

description: Any functional anomaly of the pumonary valve.


Nervous tissue neoplasm

description: A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system).


name: Abnormality of the epiphyses of the 5th finger

description: Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger.


Abnormal hippocampus morphology

description: Any structural anomaly of the hippocampus,


name: Decreased circulating thrombopoietin concentration

description: Concentration of thrombopoietin in the blood circulation below the lower limit of normal. Thrombopoietin is a glycoprotein hormone produced by the liver and kidney that stimulates the production and differentiation of megakaryocytes.


Abnormal ankle morphology

description: A structural anomaly of the ankle.


Urethral valve

description: The presence of an abnormal membrane obstructing the urethra.


Supernumerary spleens

description: The presence of two or more accessory spleens.


name: Abnormality of the internal auditory canal

description: An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse.


Decreased serum estrone

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


Confusional arousal

description: A nocturnal episode is characterized by disorientation, grogginess, and, at times, significant agitation upon awakening from slow-wave sleep or following forced awakenings.


name: Medullary peritubular capillary erythrocyte congestion

description: Substantially increased numbers of red blood cells within capillaries surrounding tubules in the medulla of the kidney. This feature is assessed in histological images as the presence of numerous erythrocytes in a segment of the capillary such that the vessel appears to be congested (not open).


Elevated brain glutamine level by MRS

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


Short sperm flagella

description: Sperm cells with abnormally short flagella.


Abnormality of toe proximal phalanx

description: A morphological anomaly of one or more proximal phalanges of one or more toes.


Prolonged bleeding time

description: Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.


name: Cleavage at junction of stratum corneum and stratum granulosum

description: Splitting of the skin (cell-cell adhesion of keratinocytes) localized to the interface between the stratum corneum and stratum granulosum layers of the epidermis.


Moderate to late preterm birth

description: Birth at 32 to 36 completed weeks of gestation.


Upper limb undergrowth

description: Arm shortening because of underdevelopment of one or more bones of the upper extremity.


name: Bilateral symmetric neonatal sequential seizure

description: Symmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting symmetrically but with a variety of clinical and electrographic signs.


Abnormal peristalsis

description: An anomaly of the wave-like muscle contractions of the digestive tract.


encephalomalacia

description: Localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation.


Multifocal splenic abscess

description: Multiple abscess lesions in the spleen.


name: EEG with spike-wave complexes (2.5-3.5 Hz)

description: The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG).


Generalized osteosclerosis

description: An abnormal increase of bone mineral density with generalized involvement of the skeleton.


Libman-Sacks lesions

description: Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve.


Discolored lateral incisors

description: The presence of discolored lateral incisors.


name: Stippling of the epiphyses of the proximal phalanges of the hand


name: Focal cognitive seizure with deja vu/jamais vu

description: A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation.


Short middle phalanx of the 4th toe

description: Developmental hypoplasia of the middle phalanx of fourth toe.


Pseudobulbar signs

description: Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.


Narrowing of medullary canal

description: A reduction in diameter and volume of the central cavity of bone where red or yellow bone marrow is located.


Slender middle phalanx of finger

description: Reduced diameter of the middle phalanx of finger.


name: Decreased circulating gonadotropin concentration

description: A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).


Aplasia/Hypoplasia of the middle ear

description: Aplasia or developmental hypoplasia of all or part of the middle ear.


name: Adult onset sensorineural hearing impairment

description: The presence of sensorineural deafness with late onset.


name: Abnormal single motor unit action potential

description: Abnormally high or low single motor unit action potential reading (-Pk Amps).


Temporal lobe megalencephaly

description: Expansion of the temporal lobes of the brain along all axes, including rostrocaudal, superoinferior, and mediolateral, resulting in a globular appearance of the brain.


Club-shaped proximal femur

description: An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis.


Face of the giant panda sign

description: The face of the giant panda sign on T2-weighted MRI is characterized by preservation of normal signal intensity in the red nuclei and lateral portion of the pars reticulata of the substantia nigra, high signal in the tegmentum, and hypointensity of the superior colliculus. The findings are said to resemble the face of a giant panda.


Focal clonic seizure

description: A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.


levocardia

description: A condition where the heart is in the correct anatomic position but some or all of the other thoracoabdominal viscera are in the opposite lateral orientation.


Absent cervical vertebra

description: A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine.


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

description: Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger.


name: Cortical radial artery intraluminal organized thrombi

description: Thrombi containing fibrous tissue and capillary-like vascular channels within the interior space of cortical radial arteries (interlobular arteries) of the kidney.


Abnormal lysosomal morphology

description: A structural anomaly of lysosomes, membrane-enclosed organelles that contain an array of enzymes capable of catabolizing proteins, nucleic acids, carbohydrates, and lipids.


name: Elevated urine 3,5,6-trichloro-2-pyridinol level

description: Detection of 3,5,6-trichloro-2-pyridinol in the urine.


Narrow nose

description: Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae.


name: Focal epileptiform discharges with limited propagation to contralateral hemisphere

description: Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization.


name: Elevated circulating 3-methyl-2-oxovaleric acid concentration

description: The concentration of 3-methyl-2-oxovaleric acidin the blood circulation is above the upper limit of normal.


Elevated urine propionic acid level

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


name: Abnormality of the first metatarsal bone

description: An anomaly of the first metatarsal bone.


name: Decreased motor nerve conduction velocity

description: A type of decreased nerve conduction velocity that affects the motor neuron.


name: Elevated urinary N,N-dimethylglycine level

description: An increased concentration of N,N-dimethylglycine in the urine.


Abnormal lymph node cell composition

description: A deviation from the normal distribution of cell types or their relative proprotions in a lymph node.


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


Decreased CSF histidine concentration

description: Abnormally decreased levels of histidine in cerebrospinal fluid.


Tented upper lip vermilion

description: Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.


Reduced CSF dopamine concentration

description: Decreased concentration of dopamine in the cerebrospinal fluid (CSF).


Food-induced anaphylaxis

description: Food-induced anaphylaxis is a severe, potentially fatal, systemic allergic reaction that occurs suddenly after contact with an allergy-causing food.


Pulmonary venous hypertension

description: An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension.


Increased blood folate concentration

description: An elevated circulating concentration of folic acid, which is also known as vitamin B9.


Happy demeanor

description: A conspicuously happy disposition, characterized by frequent smiling and laughing, which may be contextually inappropriate or unrelated to the situation.


Abnormality of B cell physiology

description: An abnormality of the physiological functioning of B cells.


Abnormality of the clivus

description: An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum.


name: Elevated circulating 3-hydroxybutyryl-carnitine concentration

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


name: Disseminated nontuberculous mycobacterial infection

description: An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease.


name: Abnormal synaptic transmission at the neuromuscular junction

description: Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers.


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

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


Fulminant hepatic failure

description: Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver.


brachydactyly type A4

description: Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit.


Tracheal duplication cyst

description: A cyst in the trachea, whose wall is made up by tissue similar to the bronchial tree, including cartilage and smooth muscle, and is lined by secretory respiratory epithelium composed of cuboid or columnar ciliated epithelium.


Jaw claudication

description: Pain in the jaw or ear induced by chewing or otherwise moving the jaw.


Abnormal spinal meningeal morphology

description: Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord.


Cellular crescent

description: A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix.


name: Increased circulating Interferon-alpha concentration

description: An elevation in the concentration of interferon alpha measured in the blood circulation.


Chronic furunculosis

description: A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection.


EEG with frontal focal spike waves

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


Increased urine succinate level

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


Renal interstitial hemorrhage

description: A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core.


name: Cone-shaped epiphysis of the proximal phalanx of the hallux


name: Shortening of all distal phalanges of the toes

description: Abnormally short distal phalanx of toe of all toes.


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

description: Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Myotonia of the upper limb

description: Slowed relaxation of muscles in the arm.


Pituitary calcification

description: Deposition of calcium salts in the pituitary gland.


Vaginal pruritus

description: A sensation of itching in the vagina.


Decreased iduronate sulfatase level

description: An decreased level of iduronate-2-sulfatase activity in the blood circulation.


Abnormality of the lower urinary tract

description: An abnormality of the lower urinary tract.


name: Aplasia cutis congenita over the scalp vertex

description: A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline.


Distal peripheral sensory neuropathy

description: Peripheral sensory neuropathy affecting primarily distal sensation.


Impaired leukocyte adhesion

description: During states of inflammation, white blood cells (leukocytes) play a key role in maintaining tissue homeostasis through elimination of pathogens and removal of damaged tissue. Leukocytes migrate to the site of inflammation by crawling over and through the blood vessel wall, into the tissue. This term refers to a defect in the attachment of leukocytes to the blood vessel wall, which is a key step required before they can pass through gaps of the endothelial cells of the blood vessel wall to migrate to the site of inflammation.


name: EEG with parietal epileptiform discharges

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


Ureteral atresia

description: A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter.


Brain xanthomatosis

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


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

description: An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by impaired awareness at some point during the seizure.


Atelectasis

description: Collapse of part of a lung associated with absence of inflation (air) of that part.


Straight clavicles

description: An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved .


description: Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Abnormal oral mucosa morphology

description: Abnormality of the oral mucosa.


Tiger tail banding

description: An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding.


Fractured lumbar vertebra

description: A partial or complete breakage of the lumbar vertebra.


Eating-induced seizure

description: A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period.


name: Focal aware sensory seizure with vestibular features

description: A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation.


Abnormal cortical gyration

description: An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain.


Abnormal muscle fiber emerin

description: A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue.


Clinodactyly of the 4th toe

description: Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe).


Laryngeal mass

description: A lump in the region of the larynx. A mass is any lump in the body that can be caused by the abnormal growth of cells, a cyst, hormonal changes or an immune reaction. Typically a mass is an initial finding that will lead to additional workup. Laryngeal masses can be visualized by multiple methods include computed tomography.


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


Prominent xiphoid process

description: Increased prominence of the xiphoid process of the sternum.


Cerebral inclusion bodies

description: Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain.


Cochlear aplasia

description: Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.


Bilateral conductive hearing impairment

description: A bilateral type of conductive hearing impairment.


Double aortic arch

description: A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor).


Patellar dislocation

description: The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.


Elevated urine octenedioic acid level

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


Humeroulnar synostosis

description: An abnormal osseous union (fusion) between the ulna and the humerus.


Short toe

description: A toe that appears disproportionately short compared to the foot.


name: Bullet-shaped proximal phalanx of the 4th toe

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


name: Pseudoepiphyses of the proximal phalanges of the hand

description: A secondary ossification center in the proximal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.


Hyperactive renin-angiotensin system

description: An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms.


Calcium phosphate nephrolithiasis

description: The presence of calcium- and phosphate-containing calculi (stones) in the kidneys.


Muscular subvalvular aortic stenosis

description: A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract.


Absent phalangeal crease

description: Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers).


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


Metaphyseal enchondromatosis

description: An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins.


Abnormal tricuspid valve physiology

description: Any functional defect of the tricuspid valve.


Complete cleft hard palate

description: Cleft hard palate in which the cleft goes through the entire length of the hard palate, ie. from the incisor foramen to the anterior border of the soft palate.


name: Elevated urinary monocarboxylic acid level

description: Abnormally increased amount of a monocarboxylic acid in the urine. Monocarboxylic acids are molecules with one COOH functional group.


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


name: Fragmentation of the epiphyses of the distal phalanges of the hand


Atlantoaxial dislocation

description: Partial dislocation of the atlantoaxial joint.


Split nail

description: A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature.


Curved distal phalanx of the 3rd toe

description: A deviation from the normal straight form of the distal phalanx of the third toe.


Abnormality of artery of lower lip

description: An abnormality of an artery of lower lip.


Myoclonic tremor

description: A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures.


Chronic decreased circulating IgG3

description: A lasting decrease of immunoglobulin G3 (IgG3) in the blood.


Abnormal blood folate concentration

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


Anterior wedging of L2

description: An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front).


Aplasia of the fallopian tube

description: Aplasia, that is failure to develop, of the fallopian tube.


Transient decreased circulating IgG4

description: A temporary reduction beneath the normal level of total immunoglobulin G4 (IgG4) in the blood circulation.


name: Supracardiac total anomalous pulmonary venous connection

description: Type 1 total anomalous pulmonary venous connection.


name: Reduced forced expiratory volume in one second

description: An abnormal reduction in the amount of air a person can forcefully expel in one second.


name: Reduced circulating growth hormone concentration

description: Concentration of growth hormone in the blood circulation below normal limits.


name: Gonadal dysgenesis with female appearance, male

description: Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation.


Synovial fluid crystals

description: The presence of crystals (microscopic solids that form distinct lattices, with definable fixed angles, faces, walls) in the joint (synovial) fluid.


Abnormal HDL3c concentration

description: Any deviation from the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.


Flank pain

description: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank.


Hypomanganesemia

description: A reduction below the normal concentration of manganese in the blood.


name: Abnormal circulating alpha-L-fucosidase activity

description: Activity of the enzyme alpha-L-fucosidase in the blood circulation outside the limits of normal.


name: Decreased pre-bronchodilator forced expiratory flow 25-75%

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


Splenic rupture

description: A breach of the capsule of the spleen.


Pancreatic calcification

description: The presence of abnormal calcium deposition lesions in the pancreas.


Autonomic epileptic aura

description: An autonomic epileptic aura is a purely subjective manifestation of an epileptic seizure pertaining to autonomic nervous system function. Autonomic auras include cardiorespiratory (e.g., palpitations and shortness of breath), gastrointestinal, genitourinary (genital sensations, urinary urge), and cutaneous (feeling of warmth or cold) sensations. Abdominal auras constitute the most common type of autonomic aura. These include sensations of nausea, pain, or indescribable discomfort in the abdominal or periumbilical area that can be static, rise to the chest and throat, or descend into the lower abdominal region.


Urinary bladder sphincter dysfunction

description: Abnormal function of a sphincter of the urinary bladder.


Smooth philtrum

description: Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.


Abnormal fear-induced behavior

description: An abnormal fear-induced behavior includes observable actions. This behavior is characterized by abnormal responses to fear or abnormal fear levels. Examples of such behavior include avoiding fear-inducing situations.


name: Abnormal circulating interleukin concentration

description: The concentration of an interleukin (a class of cytokines) is outside the limits of normal.


name: Cortical thickening of the forearm bones


Decreased circulating T4 concentration

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


Oropharyngeal squamous papilloma

description: A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium [NCI thesaurus].


Small intestinal perforation

description: A hole (perforation) in the wall of the small intestine.


Cervical spinal canal stenosis

description: An abnormal narrowing of the cervical spinal canal.


Hypernasal speech

description: A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.


Hypermobility of toe joints

description: An ability of the toe joints to move beyond their normal range of motion.


Type I cryptotia

description: A type of cryptotia associated with reduction in size of the antihelix and superior crus.


name: Passive dorsiflexion of the 5th finger more than 90 degrees

description: An abnormally increased ability to bend (dorsiflex) one's fifth finger. To assess this feature, the examiner requests to proband to extend the elbows,to bend the wrist back so that it forms a ninety degree angle to the forearm, and to extend the fingers. Then, the proband is requested to bend the fifth finger back as far as is possible without discomfort. If the angle of the fifth finger exceeds 90 degrees, this is considered to be abnormal.


Reduced brain glutamine level by MRS

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


Stippling of thumb epiphysis

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


pyromania

description: A disorder characterized by a fascination with fire and recurrent episodes of fire setting during which the individual experiences a rising subjective sense of tension before the fire setting and a sense of gratification or relief when setting the fire. There is no ulterior motive (such as monetary gain or the expression of political ideology) to the fire setting.


Abnormality of the respiratory system

description: An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.


Anti-NR2A antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the N-Methyl-D-aspartate (NMDA) receptor NR2A subunit.


Absent muscle fiber beta sarcoglycan

description: Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy.


Prominent scrotal raphe

description: Increased size of the ridge of tissue that extends along the midline of the scrotum.


autosomal dominant prognathism

description: Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion).


Abnormality of the elbow

description: An anomaly of the joint that connects the upper and the lower arm.


Spoken word recognition deficit

description: Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus.


Hemihypertrophy of lower limb

description: Overgrowth of only one leg.


Increased level of galactitol in plasma

description: An increase in the level of galactitol in the plasma.


Hemiparesis

description: Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.


Periventricular ribbonlike heterotopia

description: Heterotopia that forms a continuous wavy line along the ventricular wall.


Inflammatory cap polyp

description: A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp.


name: Abnormal fetal cardiovascular physiology

description: Abnormal functionality of the fetal cardiovascular system.


Habitual mouth breathing

description: A tendency to breathe through the mouth. Defined as over 25-30 percent of the air passing through the mouth instead of the nose, mouth breathing often occurs due to upper airway obstruction which reduces the nasal airflow and forces the air to enter completely or partially through oral cavity.


Recurrent pharyngitis

description: An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis.


Fibro-obliterative bile-duct lesion

description: A condition in which the lumen of a bile duct has been filled by fibrous scar material, in effect replacing the bile duct with a fibrous scar.


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

description: An abnormal proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.


Fiber type grouping

description: An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type.


Butterfly vertebral arch

description: Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends.


Abnormal urine urobilinogen level

description: An abnormal concentration of urobilinogen in the urine.


Abnormal dental morphology

description: An abnormality of the morphology of the tooth.


Pulmonary paraglioma

description: A rare paranglioma of the lung, tumors that arise from extra-adrenal chromaffin cells.


Bruxism during sleep

description: Bruxism is a condition in which you grind, gnash, or clench your teeth while asleep.


Intranuclear cardiomyocyte mitochondria

description: Abnormal localization of mitochondria within the nuclei of cardiomyocytes.


Pleural cyst

description: A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance.


Anti-GM1 IgM antibody positivity

description: The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GM1.


Postcoital vaginal bleeding

description: Postcoital bleeding (PCB) consists of spotting or bleeding after sexual intercourse that is not related to a person's menstrual cycle.


name: Respiratory insufficiency due to defective ciliary clearance


Gingival fragility

description: Gums that are easily damaged.


Pulsus paradoxus

description: Pulsus paradoxus refers to a systolic pressure drop greater than 10mmHg during inspiration.


Abnormal immunoglobulin level

description: An abnormal deviation from normal levels of immunoglobulins in blood.


name: Intermediate atrioventricular canal defect

description: A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices.


Large iliac wing

description: Increased size of the ilium ala.


Abnormal cystatin C level

description: Any deviation from the normal concentration of cystatin C in serum or plasma.


Perinuclear cardiomyocyte vacuolization

description: Formation of vacuoles, i.e., membrane-bound organelles, in the portion of the cytoplasm near the nucleus within myocytes of the heart.


Slow-growing scalp hair

description: Scalp hair whose growth is slower than normal.


Abnormality of the biliary system

description: An abnormality of the biliary system.


name: Tetralogy of Fallot with pulmonary atresia

description: An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries.


name: Elevated urinary 3-hydroxyisobutyric acid level

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


Coarse facial features

description: Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.


Prominent nose

description: Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.


Nasal dryness

description: A lack of humidification of the nasal mucosa.


Infantile hydrocele

description: Infantile Hydrocele is a type pf hydrocele in which the processus vaginalis gets obliterated at the level of the deep inguinal ring. However, the portion distal to it remains patent and allows fluid accumulation.


Obstructive shock

description: A type of shock characterized by inadequate cardiac preload due to obstructed venous return (e.g. pericardial tamponade, tension pneumothorax, abdominal compartment) or obstruction of arterial blood flow (e.g. pulmonary embolism).


name: Impaired renal tubular reabsorption of magnesium

description: Decreased renal tubular reabsorption of magnesium.


Short dental root

description: Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length.


name: Triangular epiphysis of the distal phalanx of the 5th finger

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


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


Tetraplegia/tetraparesis

description: Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength.


Flattened proximal radial epiphyses

description: An abnormally flat form of the proximal epiphysis of the radius.


name: Elevated circulating tiglylcarnitine concentration

description: Concentration of tiglylcarnitine (C5:1) in the blood circulation above the upper limit of normal.


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


name: Decreased CD69 upregulation upon TCR activation

description: Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR).


Abnormal dental pulp morphology

description: An abnormality of the dental pulp.


Decreased glucagon level

description: A reduced concentration of glucagon in the blood circulation.


Wide anterior fontanel

description: Enlargement of the anterior fontanelle with respect to age-dependent norms.


name: Complete duplication of the proximal phalanx of the hallux

description: Complete duplication of the proximal phalanx of big toe.


name: Reduced circulating C-reactive protein concecntration

description: An abnormal decrease of the C-reactive protein level in serum.


Thickened helices

description: Increased thickness of the helix of the ear.


Beevor's sign

description: Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibers predominate pulling upwards the umbilicus.


Lop ear

description: Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha.


Prominent occiput

description: Increased convexity of the occiput (posterior part of the skull).


EEG with frontal sharp waves

description: EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec.


name: Bilateral tonic-clonic seizure on awakening

description: Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day).


Leucinuria

description: Increased level of leucine in urine.


Hydrometrocolpos

description: Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina.


Partial anosmia

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


Short first metatarsal

description: Short first metatarsal bone.


name: Elevated urine 4-hydroxyisovaleric acid level

description: Amount of 4-hydroxyisovaleric acid in urine above upper limit of normal.


Tree-in-bud pattern

description: The tree-in-bud pattern represents centrilobular branching structures that resemble a budding tree. The pattern reflects a spectrum of endo- and peribronchiolar disorders, including mucoid impaction, inflammation, and/or fibrosis (See Figure 70 of PMID:18195376).


Non-glucose reducing substance in urine

description: Abnormal result for this screening test for urinary reducing substances including glucose, fructose, galactose, lactose, pentose and maltose, as well as amino acids, cysteine, tyrosine, homogentisic acid, ketone bodies, ascorbic acid and many drugs. This term is applied if the urine stick test for glucose was negative (normal).


Lethal short-trunk short stature

description: A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth.


Aortic rupture

description: Tearing of the aortic wall generally associated with profuse internal bleeding.


name: Glomerular capillary wall duplication with cellular interposition

description: Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM.


Thin clavicles

description: Abnormally reduced diameter (cross section) of the clavicles.


name: Increased circulating dehydroepiandrosterone-sulfate concentration

description: Concentration of dehydroepiandrosterone-sulfate in the blood circulation above the upper limit of normal.


Apical pulmonary opacity

description: An apical cap is a caplike lesion at the lung apex, usually caused by intrapulmonary and pleural fibrosis pulling down extrapleural fat or possibly by chronic ischemia resulting in hyaline plaque formation on the visceral pleura. The prevalence increases with age. It can also be seen in hematoma resulting from aortic rupture or in other fluid collection associated with infection or tumor, either outside the parietal pleura or loculated within the pleural space.


name: Abnormal CSF N-acetylaspartic acid concentration

description: Any deviation from the normal concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF).


Abnormal gallbladder morphology

description: A structural anomaly of the gallbladder.


Neoplasm of the anterior pituitary

description: A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.


name: Abnormally low T cell receptor excision circle level

description: Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells.


Complete cleft soft palate

description: Cleft soft palate in which the cleft goes through the entire length of the soft palate, i.e. from the posterior border of the hard palate until the uvula.


Femoral neck fracture

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


Abnormal liver metabolite concentration

description: The concentration of a metabolite in the liver is above or below the limits of normal.


Absent tonsils

description: Lack of observable tonsillar tissue.


Renal interstitial granulomas

description: Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present.


Gastric arteriovenous malformation

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


Hypoplastic frontal sinuses

description: Underdevelopment of frontal sinus.


Hepatic periportal necrosis

description: A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein.


name: Complete duplication of the 1st metatarsal

description: A developmental defect consisting in the complete duplication of the first metatarsal bone.


name: Stippling of the epiphyses of the 3rd toe

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


Joint dislocation

description: Displacement or malalignment of joints.


Placidity

description: Flat affect and reduced response to emotional stimuli. Fear and anger responses that are normally present are blunted.


name: Elevated circulating dihydrouracil concentration

description: An increased concentration of dihydrouracil in the blood circulation. Dihydrouracil is an intermediate in the catabolism of uracil that is also known as 5,6-dihydrouracil.


name: Partial diaphragmatic absence of pericardium

description: Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart.


Abnormal jugular vein morphology

description: Any structural abnormality of a jugular vein.


Dimple chin

description: A persistent midline depression of the skin over the fat pad of the chin.


name: Abnormality of the spinocerebellar tracts

description: An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract.


Widened greater sciatic notch

description: The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch.


Modic type vertebral endplate changes

description: An abnormal magnetic resonance tomography signal from a vertebral endplate according to a widely used classification published by Dr. Michael Modic.


name: Abnormal response to gonadotropin-releasing hormone stimulation test

description: An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH).


description: Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Complete breech presentation

description: A kind of breech presentation in which the hips are flexed and the knees are flexed.


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


Increased circulating mead acid level

description: An abnormally elevated concentration od mead acid in the blood circulation.


Decreased proportion of naive T cells

description: An abnormally decreased proportion of naive T cells relative to the total number of T cells.


Bartholin cyst

description: A fluid-filled sac near the vaginal opening. A Bartholin cyst is usually unilateral, asymptomatic blockage of the Bartholin gland, which may lead to a painless swelling.


Pulmonary hemorrhage

description: Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease.


name: Anti-voltage-gated potassium channel antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against a voltage-gated potassium channel.


Abnormal auditory canal morphology

description: Any structural abnormality of the external acoustic tube (also known as the auditory canal).


Bracket epiphysis of the 1st metatarsal

description: The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form.


Fractured distal tarsal bone 2

description: A partial or complete breakage of the distal tarsal bone 2.


Abnormal number of hair whorls

description: More than two clockwise hair whorls.


name: Decreased Succinyl-CoA 3-ketoacid CoA transferase activity

description: Decreased activity of the enzyme succinyl-CoA 3-ketoacid CoA transferase.


Triangular epiphyses of the 4th finger

description: A triangular appearance of the epiphyses of the 4th finger of the hand.


Gastrocnemius contracture

description: Limitation of simultaneous ankle dorsiflexion and knee extension during mid-stance of gait.


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


Abnormal muscle fiber delta sarcoglycan

description: Deviation from normal in the amount of delta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.


Bilateral triphalangeal thumbs

description: A bilateral form of triphalangeal thumb.


Short esophagus

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.


Aplasia/Hypoplasia of facial bones

description: A developmental defect characterized by absence or underdevelopment of one or more facial bone.


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: Proximal humeral metaphyseal irregularity

description: Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder).


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.


Bowed forearm bones

description: A bending or abnormal curvature affecting either the radius, the ulna, or both.


Increased CSF glutamate concentration

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


Horseshoe lung

description: A horseshoe lung is an uncommon congenital abnormality caused by the partial fusion of the bases of both lungs behind the pericardial sac.


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.


Massively thickened long bone cortices

description: Extreme thickening of the cortex of long bones.


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.