Abnormal urinary pyrimidine level

description: Any deviation from the normal amount of a pyrimidine compound in the urine. Pyrimidines and pyrimidine derivatives are compounds containing a pyrimidne ring, which is a six-member aromatic heterocycle which consists of two nitrogen atoms (at positions 1 and 3) and four carbon atoms. The nucleotides cytosine, thymine and uracil are pyrimidines.


Spina bifida occulta at L5

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

description: The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin.


name: Abnormality of the fifth metatarsal bone

description: An anomaly of the fifth metatarsal bone.


Intratubular erythrocyte cast

description: Casts that contain red blood cells and are located within the tubuli of the kidney.


Trichilemmoma

description: A benign tumor originating from the outer root sheath of the hair follicle.


Dental malocclusion

description: Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.


skin atrophy

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

description: The degeneration and thinning of the epidermis and dermis. It is usually a manifestation of aging.


name: Renal arteriole intimal/medial multilamellation

description: Myointimal hyperplasia arranged in multiple concentric layers in the inner or middle layer of the arterioles of the kidney.


Abnormal ventricular septum morphology

description: A structural abnormality of the interventricular septum.


Perirenal hematoma

description: A collection of clotted blood surrounding the kidney.


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


Poor wound healing

description: A reduced ability to heal cutaneous wounds.


name: Elevated urinary 3-methylcrotonylglycine level

description: An abnormally increased amount of 3-methylcrotonylglycine in the urine.


Hypopigmented macule

description: A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation.


Decreased CSF copper concentration

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


name: Congenital conductive hearing impairment

description: A type of conductive deafness with congenital onset.


Suprasellar arachnoid cyst

description: An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards.


Limited pointing

description: Absence or reduction in the use of pointing to request or direct another's attention.


Sleep onset rapid eye movement period

description: Entering REM sleep immediately upon falling asleep.


Piezogenic pedal papules

description: Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum.


Dermal papillary IgA deposition

description: Accumulation of immunoglobulin A (IgA) surrounding dermal papillae, which are specialized cells that support the hair follicle.


hyperekplexia

description: A neurologic disorder classically characterized by pronounced startle responses to tactile or acoustic stimuli and hypertonia


Fecolith

description: A mass of accumulated hardened fecal matter.


isolated oxycephaly

description: Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull.


Intrahepatic bile duct dilatation

description: Increased diameter (caliber) of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts).


Increased pineal volume

description: An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland.


Filum terminale lipoma

description: Filum terminale lipomas (FTLs) are a type of lumbosacral lipoma in which the fat is entirely within the filum terminale and separate from the conus medullaris.


clubfoot

description: The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply.


mucocele of salivary gland

description: A benign cyst located in the salivary gland that is lined by epithelium and filled with mucoid fluid, tissue, or other material; it is usually caused by duct obstruction.


Osteosclerosis of the base of the skull

description: An increase in bone density affecting the basicranium (base of the skull).


Cavitating leukodystrophy

description: A type of leukodystrophy characterized by multiple small cavitations typically in the periventricular and deep cerebral white matter. The cavitations are visible as a central cavity with cerebrospinal fluid-like signal intensity.


name: Focal aware sensory seizure with auditory features

description: A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure.


Cardiomyocyte hyaline bodies

description: Subsarcolemmal, eosinophilic glass-like regions within the cytoplasm of cardiomyocytes.


EEG with diffuse acceleration

description: EEG frequency is abnormally increased.


Focal sensory seizure

description: A focal sensory seizure is a type seizure beginning with a subjective sensation.


Dysgenesis of the thalamus

description: Structural abnormality of the thalamus related to defective development.


name: Abnormal placental adhesion into the uterine wall

description: Abnormal placental adhesion is characterized by an anomalous adherence of the placenta to the uterine wall. Based on the degree of adhesion, placental invasion can be classified into accreta, increta, or percreta.


Short phalanx of the 4th toe

description: Developmental hypoplasia of one or more phalanx of fourth toe.


Ventouse delivery

description: Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labor has not progressed adequately.


thumbs, congenital Clasped

description: In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.


name: Focal impaired awareness emotional seizure with pleasure

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


name: Fusiform ascending tubular aorta aneurysm

description: A concentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves the full circumference of the vessel wall.


name: Fragmentation of the epiphysis of the 1st metatarsal


Abnormal experience of reality

description: Subjective phenomena or perceptions that deviate from what is considered correct or are outside the range of normal human experiences.


name: Aplasia/Hypoplasia of the middle phalanx of the 4th toe


Abnormal urine magnesium concentration

description: An abnormal concentration of magnesium the urine.


Perifolliculitis

description: Inflammation surrounding hair follicles.


Thin corpus callosum

description: An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).


name: Avoidance of stimuli associated with traumatic event

description: Avoidance of or efforts to avoid distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s). Avoidance of or efforts to avoid external reminders (people, places, conversations, activities, objects, situations) that arouse distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s).


Absent posterior alpha rhythm

description: Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above.


Predominantly lower limb lymphedema

description: Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs.


Two-raphe bicuspid aortic valve

description: A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis.


Aortic smooth muscle cell nuclei loss

description: A region of the aortic media in which smooth muscle cell nuclei, involving multiple lamellae, are not clearly identifiable on an hematoxylin and eosin stain.


Abnormal renal calyx morphology

description: Any abnormality of the morphology of the major calices or minor calices of the kidney.


name: Symphalangism affecting the middle phalanx of the 4th toe


Protuberant abdomen

description: A thrusting or bulging out of the abdomen.


Argininuria

description: A increased concentration of arginine in the urine.


familial supernumerary nipples

description: Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported.


name: Abnormal renal tubular epithelial morphology

description: Any structural anomaly of the renal tubular epithelial cells (RTEC), a layer of cells in the outer layer of the renal tubule. These cells play a role in the absorption of substances such as glucose and amino from the primary urine.


Jaundice

description: Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.


Total absence of the pericardium

description: No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy.


gastroschisis

description: Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated.


name: Abnormal cortical radial artery lumen morphology

description: Abnormal structural characteristics of the interior space of the cortical radial arteries of the kidney.


Focal cortical dysplasia type I

description: A type of focal cortical dysplasia that is characterized by abnormal cortical layering.


Hand apraxia

description: Inability to perform purposeful (learned) movements with the hand upon command, even though the command is understood and there is a willingness to perform the movement. Hand apraxia includes the inability to grasp, pick up, and hold large and small objects.


name: Abnormal inferior alveolar artery morphology

description: An abnormality of an inferior alveolar artery.


Phonic tics

description: Tics are defined as movements or sounds that resemble physiological motor behaviors, but are typically inopportune to social context and appear sudden, repetitive, and often exaggerated. Tic vocalizations commonly termed vocal or phonic tics may include any possible sound (eg, sniffing, coughing, throat clearing, whistling, or grunting), word, or sentence and are most commonly encountered within the spectrum of primary tic disorders, as Tourette syndrome.


Decreased urinary hypoxanthine level

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


Progressive gait ataxia

description: A type of gait ataxia displaying progression of clinical severity.


Abnormal central sensory function

description: An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord.


carbuncle

description: An infection of cutaneous and subcutaneous tissue that consists of a cluster of boils. Commonly, the causative agent is staphylococcus aureus. Carbuncles produce fever, leukocytosis, extreme pain, and prostration.


Chiari malformation

description: A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus.


hypoplastic right heart syndrome

description: Hypoplastic right-heart syndrome (HRHS) is a rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type. Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia.


bidirectional tachycardia

description: Bidirectional ventricular tachycardia (BDVT) is a regular ventricular tachyarrhythmia (VT) with two different QRS morphologies alternating at a rate typically between 140 and 180 bpm.


Abnormality of humoral immunity

description: An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system.


Yellow nodule

description: A type of skin nodule (a lesions that is greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat) with a yellowish coloration (that reflects a high lipid content of the lesion).


Elevated urine arabitol level

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


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


Congenital alopecia totalis

description: Loss of all scalp hair with congenital onset.


name: Insulin-dependent but ketosis-resistant diabetes

description: Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin.


Vascular tortuosity

description: Abnormal twisting of arteries or veins.


Fractured left clavicle

description: A partial or complete breakage of the left clavicle.


name: Positive urine infectious agent nucleic acid test

description: Detection of DNA and RNA originating from an infectious agent (bacteria, viruses, parasites and fungi) in the urine.


Abnormal spinal dura mater morphology

description: An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord.


Ileoileal intussusception

description: A type of intussusception of the small intestine in which one part of the ileum invaginates (telescopes) into another part of the ileum.


Ureter duplex

description: A complete duplication of the ureter, where the duplicated ureters have separate insertions into the bladder.


craniosynostosis 4

description: Any craniosynostosis in which the cause of the disease is a mutation in the ERF gene.


Ivory epiphysis of the 1st metatarsal

description: The epiphysis of the 1st metatarsal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs.


Gingival calcification

description: Ectopic deposition of calcium salts found in the gingiva.


pericarditis

description: An inflammatory process affecting the pericardium.


Osgood-Schlatter disease

description: Osteochondrosis of the growth plate near the tibial tuberosity.


Disc kidney

description: A type of cross fused renal ectopia in which kidneys fuse along their medial borders.


Areflexia

description: Absence of neurologic reflexes such as the knee-jerk reaction.


Frank breech presentation

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


Ankle joint effusion

description: Abnormal accumulation of fluid in or around the ankle joint.


chondroblastoma

description: A benign, chondroid-producing, well-circumscribed, lytic neoplasm usually arising from the epiphysis of long bones. It is characterized by the presence of chondroblasts, osteoclast-like giant cells, chondroid formation, calcification, and mitotic activity. In aggressive cases, there is rearrangement of the 8q21 chromosome band. It occurs most frequently in children and young adults and rarely metastasizes.


Absent lunula

description: Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail.


Grade III vesicoureteral reflux

description: Vesicoureteral reflux with dilatation of the collecting system.


Hilar lymph node enlargement

description: Hilar lymphadenopathy is swelling or enlargement of lymph nodes localized in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral).


name: Elevated circulating C12 acylcarnitine concentration

description: Concentration of C12 acylcarnitines in the blood circulation above the upper limit of normal. C12 acylcarnitines have a twelve-carbon acyl chain.


Visually-induced seizure

description: Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect.


Involuntary vocalization

description: Production of sound done without will or conscious control. Involuntary vocalizations include tics, stereotypies vocalizations as part of dystonia or chorea, continuous vocalizing behaviors such as groaning or grunting, pathological laughter and crying, and others.


Lamina lucida cleavage

description: The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin.


name: Agenesis of primary maxillary lateral incisor

description: Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor.


Focal necrotic brainstem lesion

description: A localized area of cell death, often accompanied by infiltration of inflammatory cells, in the brainstem.


Crowded maxillary incisors

description: A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor.


Clinodactyly of the 2nd toe

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


Multifocal epileptiform discharges

description: An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci).


nasopharyngeal teratoma

description: A teratoma that involves the nasopharynx.


Reduced co-speech gestures

description: Reduced use of speech-integrated gestures such as the use of beat gestures.


Cortical myoclonus

description: Cortical myoclonus mainly affects the distal upper limbs and face, which reflects the largest cortical representations of these body areas. It is often focal, but may be multifocal, bilateral or generalized, as a consequence of intracortical and transcallosal spreading of abnormal activity. It typically occurs on voluntary action and may affect speech and gait. Cortical myoclonic jerks are stimulus sensitive, typically to touch, but sensitivity to visual stimuli is also described. Most patients with cortical myoclonus have both positive myoclonus and NM, occurring either independently or together as a complex of the two kinds of myoclonus. If cortical myoclonus is prolonged and lasts for hours, days or weeks, it is called epilepsia partials continua and is considered to be a rare form of focal epileptic status. Focal cortical myoclonus almost always points to an underlining lesion of the sensori-motor cortex, which produces hyperexcitability (e.g. vascular, inflammatory or neoplastic).


osteochondrosis

description: A condition that is characterized by defective bone growth that affects the growth centers of bone.


Glenoid fracture

description: A fracture of the glenoid fossa, a relatively shallow dish is located on the lateral scapula and is the socket portion of the shoulder joint that meets to articulate the humeral head.


primitive neuroectodermal tumor

description: A malignant neoplasm that originates in the neuroectoderm. The neuroectoderm constitutes the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems and includes some glial cell precursors.


Caseous vernix-like desquamation

description: Vernix caseosa is a physiological, viscous biofilm that is produced by desquamated fetal skin and sebaceous glands covering the fetus at the third trimester in-utero. The substance's gross morphology in post-partum is described by the etymology, as vernix means varnish, and caseosa means cheesy-like matter. This finding refers to an abnormally thick and greasy vernix caseosa-like scale present at birth.


Focal aware hemiclonic seizure

description: A focal hemiclonic seizure in which awareness is retained throughout.


Pre-capillary pulmonary hypertension

description: Pre-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg).


Acroparesthesia

description: A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes.


presbycusis

description: Bilateral hearing loss caused by progressive degeneration of cochlear structures and central auditory pathways, typically associated with the aging process.


name: Absent peripheral lymph nodes in presence of infection

description: The absence of any palpable lymph nodes in the presence of symptoms suggesting infection in that drainage area should raise suspicion for immunodeficiency diseases.


name: Partial duplication of the middle phalanx of the 2nd toe

description: Partial duplication of middle phalanx of second toe.


name: Osteoarthritis of the first carpometacarpal joint


Type III truncus arteriosus

description: Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta.


Tortuous lymphatic vessels

description: The presence of an increased number of twists and turns of lymphatic vessels.


Fractured thoracic vertebra

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


thyroiditis

description: Inflammation of the thyroid gland. This category includes Hashimoto thyroiditis, Riedel thyroiditis, acute thyroiditis, subacute thyroiditis, and radiation-induced thyroiditis.


Rib exostoses

description: Multiple circumscribed bony excrescences located in the ribs.


name: Focal impaired awareness cognitive seizure with anomia

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


Curved dental root

description: A root of a tooth that is more rounded than normal.


name: Abnormality of the phalanges of the 3rd toe


nevus of Ota

description: Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus.


Prominent fingertip pads

description: A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist.


cervix endometriosis

description: Endometriosis that affects the cervix. Most patients are asymptomatic. Some patients may present with recurrent minimal uterine bleeding.


oligodendroglioma

description: A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO)


Elevated urinary N-butyrylglycine

description: An increased level of N-butyrylglycine in the urine.


potassium deficiency disease

description: Any disorder caused by an insufficient amount or availability of potassium, which generally manifests with myalgia, tetany, hypotension, polyuria, and polydipsia.


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


Abnormal affect

description: Abnormalities in the intensity, frequency, or duration of observable and expressed emotions.


Cerebral white matter atrophy

description: The presence of atrophy (wasting) of the cerebral white matter.


Hypnopompic sleep paralysis

description: Sleep paralysis that occurs when waking up from sleep.


Villous atrophy

description: The enteric villi are atrophic or absent.


Positive Phalen test

description: The Phalen maneuver is performed by having the patient hold both wrists in complete and forced flexion (pushing the dorsal surfaces of both hands together) for 30-60 seconds. This can increase the pressure in the carpal tunnel. The test is positive (abnormal) if the patient experiences characteristic symptoms of carpal tunnel syndrome (pain and paresthesias along the distribution of the median nerve, i.e., thumb, index finger, and middle finger).


Osteolysis of talus

description: Osteolysis affecting the talus.


macrodactyly of fingers

description: A type of Macrodactyly affecting one or several fingers.


Hypervolemia

description: An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood.


Structural foot deformity

description: A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies.


Abnormality of dermal melanosomes

description: An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis).


name: Anterior displacement of the papillary muscles

description: Abnormally anterior location of the papillary muscles of the left ventricle.


Pulmonary arterial atherosclerosis

description: Accumulation of lipids and inflammatory cells along the inner walls of the pulmonary artery.


heart cancer

description: A malignant neoplasm involving the heart


Abnormality of external jugular vein

description: An abnormality of an external jugular vein of the neck.


Subcutaneous calcification

description: Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument).


Onycholysis of distal fingernails

description: Detachment of the distal fingernails from the nail bed.


Inguinal freckling

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


Macrodontia

description: Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth.


Increased level of D-threitol in urine

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


Glomerular crescent formation

description: Glomerular crescent refers hyperplastic lesions involving 10% or more of the circumference of Bowman's capsule. Crescents can be composed of a variable mixture of epithelial/leukocyte hypercellularity, fibrous matrix, and fibrin.


Short proximal phalanx of the 4th toe

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


Fungi allergy

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


name: Increased myocardial pyrophosphate uptake

description: Amount of pyrophosphate uptake by the myocardium as demonstrated by by technetium pyrophosphate (99mTc-PYP) scintigraphy above the upper limit of normal.


Paraspinal hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the paraspinal muscular region, the muscles next to the spine.


Elevated jugular venous pressure

description: Increased jugular venous pressure.


name: Mottled pigmentation of the trunk and proximal extremities


Autophagia

description: The habitual action of inflicting pain upon oneself by biting and/or devouring portions of one's body.


Gallbladder adhesions

description: Strands of scar tissue bands of scar tissue that form an abnormal connection between the gallbladder and another abdominal structure. Adhesions can form followiing gallbladder inflamation (cholecystitis).


Eosinophilic ascites

description: A type of ascites in which there are large numbers of eosinophils in the ascitis fluid.


name: Focal aware emotional seizure with pleasure

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


nocturnal enuresis

description: Urination during sleep.


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


Abnormal blood vessel morphology

description: Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein).


Atretic gallbladder

description: Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia.


Coronary artery calcification

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


Recurrent thrombophlebitis

description: Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).


White hair

description: Hypopigmented hair that appears white.


Increased serum testosterone level

description: An elevated circulating testosterone level in the blood.


Open bite

description: Visible space between the dental arches in occlusion.


primary hyperparathyroidism

description: Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones.


Generalized periodontitis

description: A generalized form of periodontitis.


Mallory bodies

description: Cytoplasmic hyaline inclusions of hepatocytes that are predominantly filamentous ranging from a diameter of 3 to 24 nm vs. 10 nm of classical IF. Mallory-Denk bodies can be classified as type I (parallels filaments), II (randomly orient filaments), or III (granular and amorphous). Type II occurs in the periphery while type III occurs around the center. MDB occur in ballooned hepatocytes.


Thin nail

description: Nail that appears thin when viewed on end.


name: Abnormal CSF alpha-aminobutyrate concentration

description: Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid.


Abolished vibration sense

description: A complete loss of the ability to perceive vibration.


Loss of consciousness

description: Loss of alertness and orientation to place and time.


Resting tremor

description: A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse.


Supernumerary tarsal bone

description: The presence of an additional tarsal bone that is not one of the canonical tarsal bones (cuboid, medial, intermediate, and lateral cuneiform, navicular, talus, calcaneus).


Atrial arrhythmia

description: A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance.


name: Difficulty recognizing another's emotions

description: A difficulty in being able to understand the emotions of other people. This can range from recognizing emotions from facial expressions to an inability to empathize with others when they describe their feelings


polyostotic fibrous dysplasia

description: Fibrous dysplasia affecting more than one bone. When it is associated with café-au-lait skin pigmentation and endocrine disorders, it is known as McCune-Albright syndrome.


name: Abnormal cerebral white matter morphology

description: An abnormality of the cerebral white matter.


name: Decreased sensory nerve conduction velocity

description: Reduced speed of conduction of the action potential along a sensory nerve.


Agraphesthesia

description: Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination).


Decreased systolic blood pressure

description: Abnormal decrease in systolic blood pressure.


Abulia

description: Abulia is a severe form of apathy, characterized by difficulty in initiating and sustaining spontaneous movements, as well as reductions in emotional responsiveness, spontaneous speech, and social interaction.


name: Focal impaired awareness orofacial automatism seizure

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


name: Left ventricular outflow tract obstruction

description: Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle.


name: Bicuspid aortic valve with right-noncoronary cusp fusion

description: A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and noncoronary cusps (RN fusion pattern). This results in two leaflets with right-left leaflet orientation (also called the atypical pattern). There is thus one completely developed left cusp, two completely developed commissures, and one raphe between the underdeveloped right and noncoronary coronary cusps extending to the corresponding malformed commissure.


High myoinositol in brain by MRS

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


Increased CSF tryptophan concentration

description: Abnormally increased levels of tryptophan in cerebrospinal fluid.


Chiari malformation type I

description: Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic.


name: Abnormal CSF aspartate family amino acid concentration

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


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

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the hallux.


Abnormal ascending aorta morphology

description: Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise.


name: Triangular shaped distal phalanx of the 5th toe


name: Renal interstitial IgG4+ plasma cell infiltration

description: An increased number of IgG4+ plasma cells in the interstitial space of the kidney.


Abnormal third toe morphology

description: An anomaly of the third toe.


Exercise-induced asthma

description: Asthma attacks following exercise.


T lymphocytopenia

description: An abnormally low count of T cells.


name: Increased urine alpha-ketoglutarate concentration

description: A greater than normal concentration of 2-oxoglutaric acid in the urine.


Alexithymia

description: A deficit in emotional awareness is characterized by difficulties in recognizing and expressing feelings and emotions. This deficit manifests as a limited ability to respond to facial cues or other signs of emotions in others, often accompanied by detached connections to others.


Metatarsal fracture

description: A partial or complete breakage of a metatarsal bone.


Increased cardiac output

description: An increased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat.


name: Aplasia/Hypoplasia involving the central nervous system

description: Absence or underdevelopment of tissue in the central nervous system.


torsion dystonia

description: Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.


name: Supraventricular tachycardia with a manifest accessory pathway on the left free wall


Low-grade vesicoureteral reflux

description: Vesicoureteral reflux without dilation of the renal calyces (Grade I-II).


Nevus psiloliparus

description: Nevus psiloliparus is a rare fatty tissue nevus that is a marker for encephalocraniocutaneous lipomatosis, a neurocutaneous syndrome with ocular and central nervous system anomalies. Clinically, nevus psiloliparus is often described as a congenital alopecia and appears as an irregularly shaped, circumscribed area of alopecia on the scalp. Histopathology demonstrates a near-complete absence of mature hair follicles with preservation of arrector pili muscles and mature adipocytes within the dermis.


Abnormal vestibulo-ocular reflex

description: An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude.


nerve compression syndrome

description: Any nerve disorder caused by the entrapment and compression of a nerve.


name: Anomalous origin of the left common carotid artery from the brachiocephalic artery

description: The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery.


Physiological reactivity to cues

description: Marked physiological reactions to internal or external cues that symbolize or resemble an aspect of the traumatic event(s).


Single trichilemmoma

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


name: Focal impaired awareness hyperkinetic seizure

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


Biventricular hypertrophy

description: Thickening of the heart walls in both ventricles.


Talipes equinovalgus

description: A deformity of foot and ankle in which the foot is bent down and outwards.


prosopagnosia

description: Impaired ability to recognize other human faces in the absence of a vision disorder. It may be a congenital disorder or the result of brain injury.


Renal phosphate wasting

description: High urine phosphate in the presence of hypophosphatemia.


Hobby horse gait

description: An abnormal gait characterized by toe walking, stiff legs, and skipping. The gait pattern has some resemblance to cock-walk gait, but affected individuals are able to improve their dystonic gait by walking backward.


bacteriuria

description: The presence of bacteria in the urine which is normally bacteria-free. These bacteria are from the urinary tract and are not contaminants of the surrounding tissues. Bacteriuria can be symptomatic or asymptomatic. Significant bacteriuria is an indicator of urinary tract infection.


Aplasia/Hypoplasia of the midbrain

description: Absence or underdevelopment of the midbrain (mesencephalon).


name: Neonatal electro-clinical sequential seizure

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


Amplification of emotional expression

description: An increase in the tendency of a person to express emotions compared to that person's previous norm.


Talar aplasia

description: Absent talus owing to a congenital defect.


trophoblastic neoplasm

description: A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells. Representative examples include hydatidiform mole and choriocarcinoma.


Right atrial thrombus

description: A thrombus (i.e., a blood clot formed in situ within the vascular system) located in the right atrium of the heart.


name: Reduced ratio of renal calcium clearance to creatinine clearance

description: A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01.


Interstitial dermal edema

description: Accumulation of fluid in the interstitial spaces of the skin. This finding can be appreciated my microscopic examination of a skin biopsy.


name: hyperlipidemia, familial combined, LPL related

description: A disorder of lipoprotein metabolism characterized by high levels of cholesterol and triglycerides in the blood. It is caused by elevation of low density and very low density lipoproteins.


penile neoplasm

description: A benign, borderline, or malignant neoplasm that affects the penis. Representative examples include penile hemangioma, penile intraepithelial neoplasia, and penile carcinoma.


Peripheral axon spheroid formation

description: Axonal spheroids are bubble-like biological features that form on most degenerating axons.


Abnormal pharynx morphology

description: A structural anomaly of the pharynx.


name: Abnormal cardiomyocyte mitochondrial morphology

description: An anomaly of the structure of mitochondria within cardiomyocytes.


Spastic paraparetic gait

description: A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait.


Verrucous papule

description: A wartlike (with multiple small elevated projections) papule.


Ectopic ureteral orifice

description: Drainage of the ureter on one or both sides into an abnormal location. Normally the ureter drains via the internal ureteral orifice at the trigone of the urinary bladder. Ectopic ureteral orifice can be either intravesical (bladder neck) or, more often, extravesical. Ectopia in women is more frequently found in the urethra and the vaginal vestibule; much less frequently in vagina and in uterus. In men it is mostly found in the posterior urethra; in the male genital tract is very rare.


name: Elevated circulating 3-hydroxyhexanoylcarnitine concentration

description: Concentration of 3-hydroxyhexanoylcarnitine (C6-OH) in the blood circulation above the upper limit of normal.


Recurrent cerebral hemorrhage

description: Recurrent bleeding into the parenchyma of the brain.


name: Increased serum bile acid concentration during pregnancy


name: Increased rate of premature chromosome condensation

description: An increased rate of premature chromosome condensation.


Polycalycosis

description: Increased number of calices of the kidney.


Pericardial constriction

description: Compression of the heart caused by rigid, thickened, or fused pericardial membranes.


Hopelessness

description: Excessive feelings of despair; an intense state of despair; an overwhelming lack of hope.


Dysplastic tricuspid valve

description: A congenital malformation of the tricuspid valve characterized by leaflet deformation.


pulmonary artery hypoplasia

description: Underdevelopment of the pulmonary artery.


Focal emotional seizure with paranoia

description: Focal emotional seizure with paranoia is characterized by the presence of paranoia as an expressed or observed emotion at the outset of the seizure.


name: Single atrioventricular valve regurgitation

description: Regurgitation of the single atrioventricular valve regurgitation (AVVR) in the context of a congenital heart defect with a single ventricle. Roughly three quarters of patients following Fontan procedure display AVVR.


Social Anxiety

description: Excessive fear of embarrassment, humiliation, or rejection when exposed to possible negative evaluation by others when engaged in a public performance or social interaction.


Increased CSF lactate

description: Increased concentration of lactate in the cerebrospinal fluid.


Abnormal second heart sound

description: Any anomaly of the second heart sound (S2), which is produced by aortic (A2) and pulmonic (P2) valve closure. The A2-P2 interval normally increases with inspiration and narrows with expiration.


Focal autonomic seizure

description: An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature.


name: Abnormal urine hexanoylglycine concentration

description: Abnormal concentration of hexanoylglycine in the urine.


Psychotic mentation

description: A pattern of thinking and perceiving characterized by a loss of contact with reality, leading to significant changes in thoughts, perceptions, and behaviors.


Meconium peritonitis

description: Peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications.


Gastrojejunal tube feeding in infancy

description: Feeding problem necessitating gastrojejunal tube feeding.


name: Increased urinary excretion of galactosyl hydroxylysine

description: An increased concentration of beta-1-galactosyl-O-hydroxylysine (Gal-Hyl) in the urine. This is a biochemical marker of bone resorption.


Intrathoracic hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the intrathoracic or chest region.


Vaginal dryness

description: Persistent vaginal dryness.


Thymic hormone decreased

description: A reduction in the level of thymic horomone.


name: EEG with centrotemporal epileptiform discharges

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


Yellow nails

description: Yellowish discoloration of the nails.


purpura

description: A small blood vessel hemorrhage into the skin and/or mucous membranes. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color.


name: Unfavorable response of muscle weakness to acetylcholine esterase inhibitors

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


Urinary bladder wall hypertrophy

description: Increase in thickness of the wall of the urinary bladder. This finding may be seen in conditions such as bladder outlet obstruction and may be accompanied by increased trabeculation of the bladder wall musculature.


cutaneous pseudolymphoma

description: A pseudolymphoma of the skin.


Maintenance insomnia

description: Individuals affected by abnormal difficulty in staying asleep tend to wake up at night and struggle to return to sleep. This condition typically involves spending more than 30 minutes awake during the night.


Migratory erythematous plaque

description: A migratory, centrifugal, erythematous, tender, non-purpuric, and well-demarcated plaque. This feature may be observed in TNF receptor-associated periodic syndrome, in which it often occurs together with migratory myalgia in muscles located underneath the affected areas of skin.


Focal emotional seizure with anger

description: Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behavior.


Subcortical cerebral atrophy

description: Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter.


polyneuritis

description: Inflammation of several peripheral nerves.


Abnormal Intonation

description: Abnormal rise and fall of the voice in speech and vocalization.


Abnormal pituitary gland morphology

description: An anomaly of the pituitary gland.


aspartylglucosaminuria

description: Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).


Atrophic superior cerebellar peduncle

description: Atrophy of the superior cerebellar peduncle.


Abnormal heart sound

description: Any abnormal noise generated by the beating heart.


Paroxysmal atrial fibrillation

description: Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.


chronic myelomonocytic leukemia

description: A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement.


Flexion contracture of toe

description: One or more bent (flexed) toe joints that cannot be straightened actively or passively.


supratentorial cancer

description: Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and brain STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation.


Focal aware clonic seizure

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


Ventricular escape rhythm

description: A ventricular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms).


Fractured metacarpal bone of digit 1

description: A partial or complete breakage of the metacarpal bone of digit 1.


Hyperkinetic status epilepticus

description: Status epilepticus characterized by continuous hyperkinetic proximal limb or axial muscles producing irregular sequential ballistic movements such as pedaling pelvic thrusting, thrashing, or rocking movements.


Fractured talus

description: A partial or complete breakage of the talus.


Paroxysmal drowsiness

description: A neurological disorder marked by a sudden recurrent uncontrollable compulsion to sleep


name: Tip variant segmental glomerulosclerosis

description: Segmental solidification of the glomerular tuft characterized by an adhesion at the tip of the glomerular tuft abutting the proximal tubular taek-off can be accompanied by increased extracellular matrix, causing glomerular capillary obliteration at the glomerular tip. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed.


Opportunistic infection

description: An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system.


Delayed peripheral myelination

description: Delayed myelination in the peripheral nervous system.


paroxysmal dyskinesia

description: Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome).


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


Patchy sclerosis of 5th toe phalanx

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


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

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


Regional abnormality of skin

description: An abnormality of the skin that is restricted to a particular body region.


Absent Achilles reflex

description: Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.


name: Abnormal basal ganglia MRI signal intensity

description: A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia.


Temporal artery tortuosity

description: The presence of an increased number of twists and turns of the temporal artery.


Abnormality of central motor conduction

description: Any anomaly of the conduction of motor nerve impulses in the central nervous system.


Absent pigmentation of the limbs

description: Lack of skin pigmentation (coloring) of the arms and legs.


Abnormal placenta morphology

description: An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange.


name: Fractured epiphysis of third metacarpal bone

description: A partial or complete breakage of the epiphysis of third metacarpal bone.


Eosinophilic liver infiltration

description: Cellular infiltration of the liver parenchyma with a preponderance of eosinophils.


Isothenuria

description: Inability of the kidneys to produce either concentrated or dilute urine.


name: Reduced epidermal keratin protein expression

description: Amount of one or more keratins in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.


name: lysosomal storage disease with skeletal involvement


name: Absent epiphysis of the proximal phalanx of the hallux

description: Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux.


Exostoses of hand bones

description: Abnormal formation of new bone on the surface of a bone of the hand.


Eyelid myoclonia seizure

description: An eyelid myoclonia seizure is a type of generalized myoclonic seizure which may or may not be associated with loss of awareness.


Occipital neuralgia

description: A distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side.


description: Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation.


Tachyphrenia

description: The sensation that thoughts are moving too quickly.


Peripheral hypomyelination

description: Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system.


Duodenal stenosis

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


name: Elevated urinary 7-hydroxyoctanoic acid level

description: The amount of 7-hydroxyoctanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal.


angiosarcoma

description: A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma.


Abnormal meningeal morphology

description: An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater.


Perivascular cardiac fibrosis

description: A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces.


knuckle pads

description: Benign skin fibromas, typically occurring over the small joints of the hands and feet, that are associated with repetitive friction or pressure.


Small vessel vasculitis

description: A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries.


Hypoplastic aortic arch

description: Underdevelopment of the arch of aorta.


description: Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain.


Intestinal edema

description: Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds.


tumor of adipose tissue

description: A neoplasm (disease) that involves the adipose tissue.


Problematic alcohol consumption

description: Impaired ability to stop or control alcohol use despite adverse social, occupational, or health consequences.


name: Abnormality of the epiphyses of the 2nd toe


name: Focal friction-related palmoplantar hyperkeratosis

description: Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction.


EEG with focal slow activity

description: Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy).


Isoleucinuria

description: An increased concentration of isoleucine in the urine.


mucolipidosis type II

description: Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.


renal tubular dysgenesis

description: Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner.


Macule

description: A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.


Fetal subependymal hemorrhage

description: A type of fetal intracranial hemorrhage located in the subependymal germinal matrix below the frontal horns of the lateral ventricles in the caudothalamic notch.


Anarthria

description: A defect in the motor ability that enables speech.


Decreased renal parenchymal thickness

description: Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans.


Acinetobacter infectious disease

description: Infections with bacteria of the genus acinetobacter.


name: Increased CSF homovanillic acid concentration

description: Elevated concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.


respiratory tract infectious disorder

description: Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases.


name: Elevated circulating octanoylcarnitine concentration

description: Concentration of octanoylcarnitine (C8:0) in the blood circulation above the upper limit of normal.


soft tissue neoplasm

description: A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms.


Thoracic hypertrichosis

description: Excessive, increased hair growth located in the thoracic region.


name: Renal arteriole intima/media storage material accumulation

description: Deposition of storage material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arterioles of the kidney.


Cotton wool plaques

description: Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes.


aortopulmonary window

description: A rare, congenital anomaly in the aorta in which a communication exists between the ascending aorta and the pulmonary artery.


congenital factor XII deficiency

description: Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.


Duplication of phalanx of the 4th toe

description: Partial or complete duplication of phalanx of fourth toe.


Fragile skin

description: Skin that splits easily with minimal injury.


Jerk-locked premyoclonus spikes

description: Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG.


Addictive spending behavior

description: An uncontrollable urge to shop and spend money can lead to distress or impairment.


Pulmonary granulomatosis

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


nodular malignant melanoma

description: An aggressive form of melanoma, frequently metastasizing to the lymph nodes. It presents as a papular or nodular raised skin lesion. It comprises approximately 10-15% of melanomas. Morphologically, it often displays an epithelioid appearance.


name: Aplasia/Hypoplasia of the phalanges of the 4th toe


colloid cysts of third ventricle

description: Colloid cysts of the third ventricle are non-cancerous brain lesions. The third ventricle is a cavity in the brain that is filled with cerebral spinal fluid (CSF). Colloid cysts can cause blockages resulting in a build up of CSF in the brain (hydrocephalus) and increased pressure. Some colloid cysts are asymptomatic while others cause neurological symptoms, such as headaches, swelling of the optic nerve (papilledema), and drop attacks. When symptoms are present onset tends to be in the third to sixth decade of life. While uncommon, symptoms of colloid cyst can become life threatening.


Scissor gait

description: A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use.


Abnormal molar morphology

description: An abnormality of morphology of molar tooth.


name: primary cutaneous T-cell non-Hodgkin lymphoma

description: A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma.


name: Abnormal diffusion weighted cerebral MRI morphology

description: A diffusion abnormality observed in diffusion-weighted magnetic resonance imaging (MRI) of the brain. Molecular diffusion refers to the notion that any type of molecule in a fluid (eg, water) is randomly displaced as the molecule is agitated by thermal energy. Restricted diffusion of water appears bright on diffusion-weighted images.


Bilateral cleft lip

description: A non-midline cleft of the upper lip on the left and right sides.


Abnormal radial artery morphology

description: Any structural anomaly of the radial artery.


microtia

description: A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal.


urachal cyst

description: Urachal cyst is a congenital urachal anomaly characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever.


Avulsion fractured humerus

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


cephalocele

description: A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used.


Focal aware sexual automatism seizure

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


Microvillus inclusions

description: The presence of vacuoles bearing centripetal microvilli in small gut villus enterocytes.


name: Anomalous origin of the right subclavian artery from the descending aorta

description: Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery.


name: EEG with periodic lateralized epileptiform discharges

description: Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds).


name: Pseudoepiphysis of the middle phalanx of the 3rd toe


Colonic inertia

description: The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days.


Broad-based gait

description: An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.


Generalized hypopigmentation of hair

description: Reduced pigmentation of hair diffusely.


Solitary bladder diverticulum

description: Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder.


name: Linear IgA deposits along the epidermal basement membrane zone

description: Presence of IgA antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.


name: Elevated urinary mevalonate lactone level

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


Papulovesicular eruption

description: An acute onset rash characterized by by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevations with a diameter less than 10mm at the widest point, and by multiple papules, which are circumscribed, solid epidermal elevations with no visible fluid with a diameter less than 10mm at the widest point.


Iodine contrast allergy

description: Allergy to iodine contrast media used in radiological studies.


speech disorder

description: A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders.


Abnormal hair quantity

description: An abnormal amount of hair.


gonadoblastoma

description: A mixed germ cell/sex cord-stromal tumor characterized by the presence of large germ cells which resemble seminoma cells and small cells which resemble Sertoli or granulosa cells. It occurs in the testis and the ovary and is identified in children and adults. It is often associated with gonadal dysgenesis and abnormal karyotype.


Cerebellar cortical atrophy

description: Atrophy (wasting) of the cerebellar cortex.


Abnormal pia mater

description: An abnormality of the pia mater.


Hypercitraturia

description: A greater than normal concentration of citrate(3-) in the urine.


Arterial tortuosity

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


mononeuropathy

description: Disease or trauma involving a single peripheral nerve in isolation, or out of proportion to evidence of diffuse peripheral nerve dysfunction. Mononeuropathy multiplex refers to a condition characterized by multiple isolated nerve injuries. Mononeuropathies may result from a wide variety of causes, including ischemia; traumatic injury; compression; connective tissue diseases; cumulative trauma disorders; and other conditions.


Exploding head syndrome

description: Sleep disorder in which one hears a loud noise or explosive crashing sound in their head. The sound is not real or heard by anyone else. The episode typically happens suddenly, either when beginning to fall asleep or when waking up during the night.


name: Failure to offer information to initiate social interaction

description: An atypically low tendency to offer information as a means to initiate or sustain social interactions or direct another's attention.


didelphys uterus

description: A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis.


Hemihypsarrhythmia

description: Hypsarrhythmia occurring in one hemisphere.


name: Anomalous origin of right pulmonary artery from ascending aorta

description: The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery.


Hyperactive Achilles reflex

description: Increased intensity of the Achilles reflex.


Fetal pyelectasis

description: Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement.


Telangiectasia of the ear

description: The presence of telangiectasia of the ear.


name: Diminishment of emotional responsiveness

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


Mild oligozoospermia

description: A type of oligozoospermia characterized by a total number of more than 30 but less than 39 million sperm in the ejaculate or a concentration of more than 10 but less than 15 million sperm per milliliter.


Fibrous cardiac diverticulum

description: A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly.


Arterial intimal fibrosis

description: Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries.


Medial calcification of small arteries

description: Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries.


Sphincter of Oddi dyskinesia

description: Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum.


Abnormal cardiac biomarker test

description: Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes.


Lower extremity akinesia

description: Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the lower extremities.


Leydig cell tumor

description: A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course.


Quadruple gallop rhythm

description: A type of gallop rhythm in which both the third and the fourth sounds are present.


Vaginal stricture

description: A narrowing of the vagina owing to scar formation.


Bronchial telangiectasia

description: Telangiectasias (small dilated blood vessels located near the surface of the skin or mucous membranes) located in the trachoebronchial system.


Acute hepatitis

description: Acute hepatic injury resulting from inflammation typically accompanied by increased serum alanine transaminase activity. Etiologies include viral hepatitis, drugs, toxins, and autoimmune disorders.


Cerebral berry aneurysm

description: A small, sac-like aneurysm (outpouching) of a cerebral blood vessel.


Ovarian fibrosis

description: Excessive proliferation of fibroblasts and deposition of extracellular matrix within the ovary.


Amygdala microinfarct

description: An infarct located in the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe that can only be observed microscopically.


Deflation of the glomerular tuft

description: Wrinkling and folding of the capillaries without epithelial cell (podocyte) hyperplasia (formerly called ischemic type of collapse) involving o 80% of the glomerular tuft. The wrinkling is generally made by small regular folds of the glomerular basement membrane.


Median cleft palate

description: Cleft palate of the midline of the palate.


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


Pituitary resistance to thyroid hormone

description: A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal.


nephrosclerosis

description: Hardening of the kidney due to infiltration by fibrous connective tissue (fibrosis), usually caused by renovascular diseases or chronic hypertension. Nephrosclerosis leads to renal ischemia.


large congenital melanocytic nevus

description: A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.


name: Elevated circulating decenoylcarnitine concentration

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


paraganglioma

description: A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases.


Empty delta sign

description: This sign is created by a nonenhancing thrombus in the dural sinus surrounded by triangular enhancing dura as seen on cross-section. The sign, seen on contrast-enhanced CT scan images, suggests dural sinovenous thrombosis. It is best seen on wider window settings. It is a reliable sign of sinus thrombosis but is seen only in 25-30% of these cases.


Neuropathic spinal arthropathy

description: A progressive disorder of vertebral joint degeneration that occurs in the setting of any condition characterized by decreased afferent innervation, involving loss of deep pain and proprioceptive sensation in the vertebral column. Patients most commonly present with symptoms of lower back pain, sitting imbalance, progressive spinal deformity (usually kyphosis), and an audible clicking sound on changing postures.


Lower limb pain

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


Abnormal CSF amyloid concentration

description: Abnormal concentration of amyloid in the cerebrospinal fluid (CSF).


CSF oligoclonal immunoglobulin G bands

description: Oligoclonal immunoglobulin G (IgG) bands (OCBs) are a useful diagnostic tool to detect a central humoral response. In particular, cerebrospinal fluid (CSF)-restricted OCBs represent a hallmark of multiple sclerosis (MS).


name: Perivascular small intestinal hyaline deposition

description: Deposition of a largely amorphous hyaline (transparent and homogeneous) substance around blood vessels in the wall of the small intestine.


Periglomerular fibrosis

description: Circumferential fibrosis in the interstitium surrounding Bowman's capsule


Closed comedo

description: A comedo in which the top of the pore is not stretched open and thus does not expose the clogged portion (which would appear black), hence the name whitehead.


Pulmonary artery intimal thickening

description: Increased thickness of the intimal layer of the pulmonary artery. Throughout the pulmonary arterial tree, the thin intima consists of a non-fenestrated monolayer of endothelial cells lining the vessel lumen, as well as a sub-endothelial interstitium that extends to the internal elastic lamina. Intimal thickness in human lung ranges from 1-16% of total wall thickness. Pulmonary artery intimal thickening can be defined as a relative intima thickness to the thickness of the vessel wall of over 10%.


Renal tubular cyst

description: Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells.


Abnormal skin morphology

description: Any morphological abnormality of the skin.


Reduced terminal:vellus ratio

description: A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia.


lymphadenitis

description: Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process.


Sadness

description: Intense or excessive feelings of unhappiness are often characterized by feeling down, low, unhappy, or sorrowful.


name: glycogen storage disease due to lactate dehydrogenase H-subunit deficiency

description: A condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with lactate dehydrogenase A deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. LDHBD is caused by mutations in the LDHB gene and is inherited in an autosomal recessive manner.


renal aminoaciduria

description: A group of inherited kidney disorders characterized by the abnormally elevated levels of amino acids in urine. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. Renal aminoaciduria are classified by the specific amino acid or acids involved.


Abnormal renal cortex morphology

description: An abnormality of the cortex of the kidney.


infiltrating lipoma

description: A benign tumor, composed of lobules of mature adipocytes, that penetrates the surrounding tissue from which it arises. There is usually a higher local recurrence rate when compared with non-infiltrating lipomas.


name: Elevated urinary creatine/creatinine ratio

description: The ratio of creatine to creatinine concentration in the urine is above the upper limit of normal.


Somatic hallucination

description: A type of hallucination that involves the perception of sensory experiences related to the body or its internal organs, systems, or processes. It is a hallucinatory experience that primarily affects bodily sensations rather than external sensory perceptions.


Monomorphic ventricular tachycardia

description: A type of ventricular tachycardia that is characterized by uniform QRS complexes within each lead (i.e., each QRS is identical or nearly so).


Abnormal female meiosis

description: Anomalous oocyte meiosis


Depletion of mitochondrial DNA in liver

description: An abnormal reduction in the number of mitochondria in hepatocytes.


Melanonychia

description: Brown or black discoloration of the nails.


Reduced urinary manganese level

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


Hand paresthesia

description: Tingling (often refered to as a pins and needles feeling) and numbness in the hand.


name: Arcuate artery endoarterial leukocyte hypercellularity

description: Arcuate artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes).


name: Elevated urinary 5-hydroxymethyluracil level

description: The amount of 5-hydroxymethyluracil in the urine, normalized for urine concentration, is above the upper limit of normal.


P mitrale

description: A broad (120 ms or longer in duration) and bifid P-wave in EKG lead II.


atrioventricular dissociation

description: Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the sinoatrial node and the right atrium (sa block) or between atria and ventricles (av block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects.


name: Abnormal posterior circulating artery morphology

description: Any structural anomaly of the posterior circulating artery (PCOM).


Thin glomerular basement membrane

description: Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs.


Elevated urine N-acetyltyrosine level

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


brachydactyly type E1

description: Any brachydactyly type E in which the cause of the disease is a mutation in the HOXD13 gene.


name: Elevated urinary collagen degradation products

description: Increased level in the urine of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease.


name: Glomerular basement membranes powdery deposit

description: Punctate electron-dense material typically in a band-like distribution along the lamina rara interna and within tubular basement membranes within the subendothelial aspect of the glomerular basement membrane.


Pulmonary artery stenosis

description: An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


Cementum hypoplasia

description: The decrease or absence of cementum. The cementum anchors the periodontal ligament attachment fiber between the tooth root and the alveolar bone. Its absence leads to early loss of teeth.


Upper limb dysmetria

description: A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm.


Impaired vibratory sensation

description: A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.


Septic pulmonary embolism

description: Embolization of intravascular thrombus containing microorganisms into the pulmonary parenchyma via arterial system. Septic pulmonary embolism (PE) can be associated with multiple additional clinical manifestations such as fever, tachypnea, and hemoptysis. This HPO term refers to the finding of the septic embolus in the lung, which can be inferred from radiological findings. Typical radiographic features of septic PE include patchy air space lesions simulating non-specific bronchopneumonia; multiple ill defined round or wedge shaped densities of varying sizes from approximately 0.5 to 3.5 cm located peripherally; lesions abutting the pleura and located at the end of vessels (feeding vessel sign) seen on chest CT scans. Other pulmonary features suggesting septic PE include bilateral, occasional unilateral, rapid progression of cavities or abscess formations.


name: 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency

description: A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis.


Nevus spilus

description: A tan, regularly bordered patch with darker macules within the lesion.


Renal diverticulum

description: Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system.


Abnormal globus pallidus morphology

description: An abnormality of the globus pallidus.


Fractured fused metatarsal bones 2-4

description: A partial or complete breakage of the fused metatarsal bones 2-4.


name: Fractured middle phalanx of manual digit 2

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


Suicidal ideation

description: Frequent thoughts about or preoccupation with killing oneself.


Sural nerve atrophy

description: Wasting of the sural nerve, a sensory nerve in the calf region of the leg.


Partial absence of toe

description: The absence of a phalangeal segment of a toe or hallux.


name: Elevated circulating sebacic acid concentration

description: Increased concentration of sebacic acid in the blood circulation.


Biceps hyperreflexia

description: Increased intensity of the biceps reflex.


High pitched voice

description: An abnormal increase in the pitch (frequency) of the voice.


Abnormal pelvic girdle bone morphology

description: An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.


name: Skin dimple over apex of long bone angulation


Abnormality of the testis size

description: An anomaly of the size of the testicle (the male gonad).


Abnormal rete ridge morphology

description: Abnormal structure of the rete ridges (also known as rete pegs), which are downward projections of epithelium surrounding the connective tissue papillae in between the dermal papillae.


Elevated urinary pipecolic acid level

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


name: Generalized reticulate brown pigmentation


Dilatation of the bladder

description: The presence of a dilated urinary bladder.


Focal necrotic thalamus lesion

description: A localized area of cell death, often accompanied by infiltration of inflammatory cells, in the thalamus.


Myoglobin casts

description: A type of acelluar casts with positive myoglobin staining A that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented.


Cervical spinal cord atrophy

description: Atrophy of the cervical segment of the spinal cord.


Delayed ability to roll over

description: Delayed achievement of the ability to roll front to back and back to front.


name: EEG with persistent abnormal rhythmic activity


name: Focal impaired awareness emotional seizure

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


Coronary sinus enlargement

description: Abnormal increase in size of the coronary sinus.


Increased CSF/serum albumin ratio

description: An increase above normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.


Deep-set nails

description: Deeply placed nails.


Renal amyloidosis

description: A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856).


Deep plantar creases

description: The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot.


Hyperesthesia

description: Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain.


Kyphosis

description: Exaggerated anterior convexity of the thoracic vertebral column.


Skin vesicle

description: A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point.


Impaired touch localization

description: A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip.


Cognitive regression

description: Loss of cognitive developmental skills, as manifested by loss of developmental cognitive milestones.


name: hearing loss, mixed conductive-sensorineural

description: Hearing loss characterized by a combination of conductive and sensorineural hearing loss. It is caused by problems in both the inner ear and middle or outer ear.


Decreased circulating cortisol level

description: Abnormally reduced concentration of cortisol in the blood.


Auditory hallucination

description: Perception of sounds without auditory stimulus.


Reduced CSF lactate

description: Decreased concentration of lactate in the cerebrospinal fluid.


Psoriasiform lesion

description: A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus.


Frontotemporal cerebral atrophy

description: Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum.


name: Abnormal umbilical cord blood vessel morphology


Abnormal lymph node morphology

description: A structural lymph node abnormality.


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


Abnormal renal tubule morphology

description: An abnormality of the renal tubules.


Tearfulness

description: A feeling of sadness characterized by episodes of crying that can occur suddenly and are not easily controlled in social situations.


Hydrophobia

description: The word hydrophobia has been used to describe the avoidance of drinking in the presence of hydrophobic spasms that can be observed in human rabies (described as a blockage in the throat with worsening of dyspnea). However, rarely, the same word has been used to describe panic reactions observed in a patient when offered a glass of water. This term does not refer to the latter meaning.


Abnormality of fluid regulation

description: An abnormality of the regulation of body fluids.


Malposition of the stomach

description: Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation.


Thickened glomerular basement membrane

description: Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney.