Occupational disability

description: This is a general term that denotes a reduced ability to perform the work that one performed prior to an illness, and may be related to pain, cognitive dysfunction, fatigue or other physical disabilities.


Pectoral muscle hypoplasia/aplasia

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


name: familial isolated hypoparathyroidism due to agenesis of parathyroid gland

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

description: Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis).


name: Thyrotoxicosis with toxic multinodular goiter


Papillary dermal edema

description: Swelling due to fluid acculuation of the papillary dermis.


name: Increased CSF N-acetylaspartic acid concentration

description: An abnormally increased concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF).


Aorto-right ventricular tunnel

description: The presence of an extracardiac channel that connects the ascending aorta above the sinotubular junction to the cavity of the right ventricle.


name: Abnormal circulating heparan sulfate level

description: An abnormal level of heparan sulfate in the blood.


Trismus

description: Limitation in the ability to open the mouth.


name: Cone-shaped epiphyses of phalanges 2 to 5


nutritional disorder

description: Any condition related to a disturbance between proper intake and utilization of nourishment.


Diastasis recti

description: A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).


name: Anti-glutamic acid decarboxylase antibody positivity

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


name: Skeletal muscle autophagosome accumulation

description: Abnormal accumulation of autophagosomes in skeletal muscle tissue.


Femoral retroversion

description: An abnormal backward rotation of the hip relative to the knee such that the hips are externally rotated with the foot pointed outward instead of straight ahead (out-toeing).


Abnormal rib cage morphology

description: A morphological anomaly of the rib cage.


name: Chromosomal breakage induced by ionizing radiation

description: Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation.


Curved 2nd toe phalanx

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


name: Abnormal circulating interleukin 6 concentration

description: Any deviation from the normal range of the concentration of interleukin 6 (IL-6) in the blood circulation.


Proprioceptive-induced seizure

description: A seizure precipitated by movement or a change in posture.


Increased skull ossification

description: An increase in the magnitude or amount of ossification of the skull.


Thickened calvaria

description: The presence of an abnormally thick calvaria.


Knee flexion contracture

description: A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.


name: Anti-salivary protein antibody positivity

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


Increased KCO

description: Increased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index).


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

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


Pineal gland calcification

description: Accumulation of calcium salts in the pineal gland.


posterior pituitary gland neoplasm

description: A low-grade neoplasm that arises from the neurohypophysis. It includes the granular cell tumor of the neurohypophysis and pituicytoma.


name: Elevated brain N-acetyl aspartate level by MRS

description: An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).


2-5 toe syndactyly

description: Syndactyly with fusion of toes two to five.


Saccular abdominal aortic aneurysm

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


name: Abnormality of the middle phalanx of the 5th finger


Abnormal perceptual state

description: Temporary alteration of the awareness of reality or self-perception.


Nasogastric tube feeding

description: The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food.


Anterior rib punctate calcifications

description: Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs.


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


bladder calculus

description: A concretion in the urinary bladder.


Breast microcalcification

description: The term breast microcalcification is used to define calcium deposits in the breast with a diameter of less than 1 mm.


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

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


Anti-ganglioside antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides.


name: Increased circulating interferon-gamma concentration

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


pseudobulbar palsy

description: A condition affecting cranial nerves IX-XII resulting from upper motor neuron damage arising from a variety of causes.


Defective B cell differentiation

description: Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity.


name: Absent microvilli on the surface of peripheral blood lymphocytes

description: Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes.


spondyloepimetaphyseal dysplasia

description: An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis.


Anti-bicaudal D2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against bicaudal D2.


tongue disorder

description: A disease involving the tongue.


Undulate ribs

description: An abnormally wavy surface or edge of the ribs.


Reduced antral follicle count

description: A count of antral follicles that is lower than normal for age.


Focal impaired awareness clonic seizure

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


Abnormal speech rhythm

description: Speech with abnormal rhythm or pattern


Cone-shaped epiphysis of the thumb

description: A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.


Wide space between 4th and 5th toe

description: A widely spaced gap between the fourth toe and the fifth (pinky) toe.


Aplasia/Hypoplasia of the tragus

description: Aplasia or developmental hypoplasia of the tragus.


Mesangiolysis

description: Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain.


Reduced maximal expiratory pressure

description: A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration.


Encysted hydrocele of the cord

description: A type of hydrocele testis in which both the proximal and distal portions of processus vaginalis get obliterated while the central portion remains patent and fluid accumulates within it.


name: Cardiac total anomalous pulmonary venous connection

description: Type 2 total anomalous pulmonary venous connection.


Aplasia/Hypoplasia of the quadriceps

description: Absence or underdevelopment of the quadriceps muscle.


name: Aplasia/Hypoplasia involving the metacarpal bones

description: Aplasia or Hypoplasia affecting the metacarpal bones.


Hyperextensibility of the finger joints

description: The ability of the finger joints to move beyond their normal range of motion.


name: Fractured proximal phalanx of pedal digit 1

description: A partial or complete breakage of the proximal phalanx of pedal digit 1.


Anti-class II HLA antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class II human leukocyte antigen (HLA). Class I HLA corresponds to MHC class II (DP, DM, DO, DQ, and DR).


Abnormal male germ cell morphology

description: A structural anomaly of a male reproductive cell.


Fetal oral mass

description: A swelling or enlargment localized to the oral cavity of a fetus. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. This finding is generally first observed by prenatal sonography or magnetic resonance imaging.


Claw hand deformity

description: An abnormality of the hand characterized by metacarpophalangeal (MCP) hyperextension and proximal interphalangeal (PIP) and distal interphalangeal (DIP) flexion. The position of the affected hand is said to resemble a claw.


Triangular epiphyses of the 3rd finger

description: A triangular appearance of the epiphyses of the 3rd finger of the hand.


Altman type III sacrococcygeal teratoma

description: A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass.


name: Persistent asymmetrical tonic neck reflex

description: Persistence beyond the normal age (roughly the first half of the first year of life) of the asymmetric tonic neck reflex (ATNR), which is an easily elicited primitive reflex in the immediate newborn period. The ATNR refers to the phenomenon whereby when the face of an infant is turned to one side, the ipsilateral arm and leg extend and the contralateral arm and leg flex. This posture has been compared to a typical posture of fencers.


Low serum osmolality

description: Serum osmolality, which is defined as the sum of the osmolalities of every single dissolved particle in the blood such as sodium and associated anions, potassium, glucose, and urea, is below the lower limit of normal.


Flared metaphysis

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


Anterior open-bite malocclusion

description: Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion.


Skip lesions on temporal artery biopsy

description: Patchy inflammation of the superficial temporal artery, forming isolated foci of arteritis.


Proximal hyperreflexia

description: Hyperactive stretch reflexes of muscles that move proximal joints (elbow, knee).


Generalized seborrheic dermatitis

description: Seborrheic dermatitis that is not localized to any one particular region.


Aplasia of the 4th finger

description: Absent 4th finger.


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

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


Polyotia

description: The presence of an extra auricle on one or both sides of the head.


name: Increased circulating lactate concentration

description: Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).


Skin pit

description: A small, skin-lined tract that leads from the surface to deep within the tissues.


name: Decreased expression of GPI-anchored proteins on the cell surface

description: A decrease in the protein expression of GPI-anchor proteins, such as CD55 and CD59, at the cell surface, which suggests a defect in GPI-anchor biosynthesis.


Palmoplantar hypohidrosis

description: Decreased sweating on the palms and soles.


Abnormal endocrine physiology

description: Any anomaly of the function of the endocrine system.


Abnormal cardiomyocyte morphology

description: Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue.


Bowel incontinence

description: Involuntary fecal soiling in adults and children who have usually already been toilet trained.


Nevus flammeus of the forehead

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


lipomyelomeningocele

description: Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome.


Convex nasal ridge

description: Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.


Abnormal calvaria morphology

description: Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain.


Unguarded tricuspid valve

description: A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue.


name: Decreased distal sensory nerve action potential

description: A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies.


Enlarged brainstem

description: Abnormal increase in size of the brainstem.


name: Sclerosis of the middle phalanx of the 5th finger


Low semen volume

description: Volume of semen in ejaculate below the lower limit of normal. This finding can be ascertained by semen analysis. Comment: Sperm are produced within the testis, in the process of spermatogenesis, then travel through the male reproductive tract (the seminiferous tubules, epididymis, vas deferens, prostate and urethra). As the sperm travel, seminal fluid is added from the seminal vesicles, prostate, testis and epididymis and periurethral glands. The function of the ejaculate is to transport sperm into the female genital tract and to provide a suitable environment for sperm survival during this transit.


antecubital pterygium syndrome

description: Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric.


Curvilinear subcortical heterotopia

description: Large subcortical heterotopia of variable morphology wiht streaks and swirls. These always connect to the overlying cortex in at least one, but usually in multiple, locations. Spaces with the signal intensity of CSF are usually seen within the heterotopia.


Mild short stature

description: A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.


Abnormal stomach morphology

description: An abnormality of the stomach.


Megarectum

description: An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum.


name: Abnormal circulating sulfur amino acid concentration

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


Decreased superoxide dismutase level

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


name: Focal aware sensory seizure with cephalic sensation

description: A seizure characterized by a sensation in the head such as light-headedness or headache.


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


name: Duplication of the distal phalanx of hand

description: This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.


Four-vessel umbilical cord

description: Four-vessel umbilical cord containing two arteries and two veins.


name: Reduced granulocyte surface marker level

description: Reduced level of a protein that is normally present on the granulocyte surface as assessed by flow cytometry.


Abnormal glial cell morphology

description: An abnormality of the glia cell.


name: Delay in the acquisition of cooperative play skills

description: Failure to acquire the ability to play cooperatively, a type of play in whichchildren work together towards a common goal and in which a child displays interest both in the play and in the the other child or children involved in playing. This ability is observed in neurotypical children from the age of 3 to 6 years.


Poor appetite

description: A reduced desire to eat.


Balanced double aortic arch

description: A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch.


Duodenal gastric metaplasia

description: Foci of gastric-type mucus-secreting cells interspersed between duodenal enterocytes. These foci of gastric epithelial cells contain Periodic acid-Schiff (PAS)-positive neutral mucin and lack a brush border.


Abnormal platelet lysosome secretion

description: Abnormal release of lysosome contents from platelets.


Depressed nasal tip

description: Decreased distance from the nasal tip to the nasal base.


Atrioventricular valve regurgitation

description: Regurgitation of a heart valve that controls blood flow from a an atrium to a ventricle, including mitral, tricuspid, or, rarely, single atrioventicular valve.


Localized pulmonary hemorrhage

description: Circumscribed pulmonary hemorrhage originating from a single bleeding site in the lungs. This can be due to infections, tumorigenesis, foreign bodies, or vascular abnormalities. Patient often feel the site of bleeding, contrast CT scan or angiography may localize the bleeder.


Altman type I sacrococcygeal teratoma

description: A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks.


lethal infantile mitochondrial myopathy

description: Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.


name: Mixed total anomalous pulmonary venous connection

description: Type 4 total anomalous pulmonary venous connection.


Sclerosis of skull base

description: Increased bone density of the skull base without significant changes in bony contour.


Areflexia of upper limbs

description: Inability to elicit tendon reflexes in the upper limbs.


Bloodstream infectious agent

description: The presence of an infectious agent in the blood circulation.


Abnormal fetal skeletal morphology

description: An anomalous structural finding of the fetal skeleton. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other terms from the skeletal hierarchy can also be used to describe fetal phenotypes.


Malrotation of colon

description: An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis.


Ectopic pancreatic tissue

description: The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut.


Broad philtrum

description: Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum.


Abnormal subpleural morphology

description: Any structural anomaly located between the pleura and the chest wall.


Hypoplastic right atrium

description: Underdeveloped, small right heart atrium.


Rounded atelectasis

description: Rounded atelectasis is rounded collapsed lung associated with invaginated fibrotic pleura and thickened and fibrotic interlobular septa. Most frequently, it is the consequence of an asbestos-induced exudative pleural effusion with resultant pleural scarring, but it may occur with any cause of pleural fibrosis. On chest radiographs, rounded atelectasis appears as a mass abutting a pleural surface, usually in the posterior part of a lower lobe. Distorted vessels have a curvilinear disposition as they converge on the mass (the comet tail sign). The degree of lobar retraction depends on the volume of atelectatic lung. It is almost invariably associated with other signs of pleural fibrosis (eg, blunting of costophrenic angle). CT is more sensitive for the detection and display of the characteristic features of rounded atelectasis. An additional sign is homogeneous uptake of contrast medium in the atelectatic lung.


Abnormal shoulder morphology

description: An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula.


Neck hypertonia

description: Increased passive stiffness or tightness of the neck musculature.


Intrahepatic biliary atresia

description: Atresia in the intrahepatic bile duct.


name: Anti-Complement factor H antibody positivity

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


name: Use of another person's body to communicate

description: Moving another person's hand, body part, or body to communicate a desire, e.g. pushing or pulling someone toward a desired object or placing someone's hand on something.


High, narrow palate

description: The presence of a high and narrow palate.


Progeroid facial appearance

description: A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance.


Abnormal growth plate morphology

description: A structural anomaly of the growth plates (epiphyseal plates), areas of cartilage located near the ends of long bones that are located between the metaphysis (widened part of the shaft of the bone) and the epiphysis (end of the bone) and in which growth occurs in the developing bone. After conclusion of bone growth, the growth plates ossify (harden into solid bone).


Short face

description: Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective).


Anti-beta fodrin antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a component of beta-fodrin.


Cerebriform connective tissue nevus

description: The cerebriform connective tissue nevus (CCTN) is one of the most characteristic skin findings. It commonly occurs on the soles of the feet, and frequently causes problems because of pain, pruritus, infection, bleeding,exudation, odor, and walking impairment.


Broad femoral neck

description: An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).


dysgammaglobulinemia

description: An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins.


name: Increased level of gamma-aminobutyric acid in urine

description: Elevated concentration of gamma-aminobutyric acid in the urine.


Abnormal EKG

description: Abnormal rhythm of the heart.


Right ventricular dilatation

description: Enlargement of the chamber of the right ventricle.


name: Abnormal bronchoalveolar fluid protein level

description: Any deviation from the normal concentration of protein in the bronchoalveolar fluid.


Elevated coagulation factor V activity

description: Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex.


Thin lower lip vermilion

description: Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective).


Esophageal obstruction

description: Blockage of the normal flow of the contents in the esophagus.


Delayed ossification of the scaphoid

description: Formation of bone tissue of scaphoid is less than expected for age.


Areolar fullness

description: The areola (ring of pigmented skin surrounding the nipple) is filled out so as to produce a rounded shape.


Generalized muscle hypertrophy

description: Hypertrophy (increase in size) of muscle tissue in a generalized (not localized) distribution.


Decreased thalamic volume

description: A reduction in the quantity of space occupied by the thalamus.


Absent middle phalanx of 3rd finger

description: Absence of the middle phalanx of the middle (3rd) finger.


cobblestone lissencephaly

description: Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent.


Jugular foramen stenosis

description: Reduction in diameter of the jugular foramen, an opening in the base of the skull that is located behind the carotid canal and is formed by the temporal bone and the occipital bone. The inferior petrosal sinus, three cranial nerves, the sigmoid sinus, and meningeal arteries pass through the jugular foramen.


Nasal dermoid cyst

description: An ectodermal inclusion cyst containing skin and skin appendages; sebaceous glands, hair follicles, and occasionally sweat glands.


name: Decreased acid sphingomyelinase activity

description: Reduced activity of the enzyme acid sphingomyelinase activity in the blood circulation.


Bilateral talipes equinovarus

description: Bilateral clubfoot deformity.


Delayed menarche

description: First period after the age of 15 years.


Polyclonal elevation of IgM

description: A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis.


name: Abnormal male reproductive system physiology

description: An abnormal functionality of the male genital system.


Sinus tachycardia

description: Heart rate of greater than 100 beats per minute.


Brittle scalp hair

description: Fragile, easily breakable scalp hair.


monilethrix

description: Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.


Large joint hypermobilty

description: The capability that a large joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Large joints include shoulders, elbows, hips, knees, and ankles.


Inappropriate laughter

description: Laughing that may be excessive and/or inappropriate in context (e.g., laughing at a funeral while others are crying).


Distal widening of metacarpals

description: Abnormal increase in width of the distal region of the metacarpal bones.


name: Perisylvian predominant thick cortex pachygyria

description: Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.


Elevated circulating rT3/T3 ratio

description: An abnormally increased ratio of the concentrations of reverse T3 to T3 in the blood circulation.


Costal cartilage calcification

description: Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax.


name: Decreased circulating androgen concentration

description: A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.


Aldehyde oxidase deficiency

description: A reduction in aldehyde oxidase level.


name: Congenital hypertrophy of left ventricle


Impaired feeding ability

description: Applies to an individual who needs partial or total help with feeding or requires parenteral feeding.


name: Increased circulating 18-hydroxycortisone level

description: An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation.


Primary vesicoureteral reflux

description: Vesicoureteral reflux due to abnormalities in ureterovesical junction, e.g. ectopic insertion of the ureter or short intravesical tunnel at the ureterovesical junction.


name: Sclerosis of hand bones with transverse striations


Abnormal ventricular filling

description: An abnormality of filling of a ventricle with blood during diastole.


Hippocampal microinfarct

description: An infarct located in the structure of the cerebrum involved with memory storage and spatial navigation that can only be observed microscopically.


name: Anti-Gerbich phenotype 1 antibody positivity

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


name: Triangular shaped middle phalanx of the 5th finger

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


name: Abnormal morphology of the chest musculature

description: Any abnormality of the chest muscles.


Multinucleated neuron

description: Neurons that contain more than one nucleus.


Neonatal electro-clinical motor seizure

description: Neonatal electro-clinical motor seizure is a type of neonatal electro-clinical seizure with predominant motor features.


name: Supraventricular tachycardia with a concealed accessory pathway on the septum


name: Triangular shaped proximal phalanges of the hand


Abnormal renal vascular morphology

description: Anomalous structure of a blood vessel in the kidney.


Torus palatinus

description: A bony protrusion present on the midline of the hard palate.


Imperforate atrioventricular valve

description: An atrioventricular valve that has failed to open (atretic).


name: Partial duplication of the proximal phalanx of the 5th finger

description: Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.


name: Pulmonary situs ambiguus with bilateral morphologic right lungs

description: An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lung.


Unicoronal synostosis

description: Synostosis affecting only one of the coronal sutures.


name: Fractured epiphysis of third metatarsal bone

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


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


Deviation of the hallux

description: Displacement of the big toe from its normal position.


name: Focal autonomic seizure with lacrimation

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


Rheumatoid factor positive

description: The presence in the serum of an autoantibody directed against the Fc portion of IgG.


name: Increased erythrocyte uroproporphyrin concentration

description: Concentration of uroproporphyrin in erythrocytes above the upper limit of normal.


name: Focal impaired awareness emotional seizure with crying

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


Intestinal duplication

description: A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine.


name: Increased urinary fucosylated oligosaccharide

description: An abnormal increase in the concentration of small fucosylated oligosaccharides in the urine.


Decreased palmar creases

description: Poorly defined or shallow palmar creases.


Elbow flexion contracture

description: An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.


Stiff toe

description: A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity.


Prevertebral space enlargement

description: Increase in the anterior posterior dimension of the prevertebral space, which is located in the neck region between the anterior part of the cervical spine and the deep layer of the deep cervical fascia running between the transverse processes of the spine.


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


name: Curved proximal phalanx of the 5th finger

description: Curved appearance of the proximal phalanx of the 5th finger.


Hallux valgus

description: Lateral deviation of the great toe (i.e., in the direction of the little toe).


Absent dermoepidermal hemidesmosomes

description: Lack of demonstrable hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin.


Elevated serum anion gap

description: An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration).


Fractured lateral malleolus of fibula

description: A partial or complete breakage of the lateral malleolus of fibula.


Sternocleidomastoid amyotrophy

description: Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head.


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


name: Increased circulating interleukin 18 concentration

description: An increased concentration of interleukin-18 in the blood circulation.


Bladder trabeculation

description: Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface.


Abnormal lymphocyte proliferation

description: Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population.


Reduced alpha-2-antiplasmin activity

description: Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis.


dentin dysplasia

description: Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II.


T2 hypointense brainstem

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


Narrow pelvis bone

description: Reduced side to side width of the pelvis.


name: Anti-granulocyte-macrophage colony stimulating factor antibody positivity

description: The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor.


Eclabion

description: A turning outward of the lip or lips, that is, eversion of the lips.


description: A reduction of the distance between thoracolumbar vertebral pedicles.


odontoid hypoplasia

description: An often asymptomatic developmental abnormality of the cervical spine. It is characterized by the hypoplasia of the odontoid which appears as a stubby peg of an odontoid process. Symptoms may develop after minor trauma and include localized neck pain, atlantoaxial instability, and transient or permanent neurologic manifestations.


Flexion contracture of the 5th toe

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


Slender ulna

description: Reduction in diameter of the ulna.


name: autosomal recessive nonsyndromic hearing loss 4

description: An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22. Mutation in the FOXI1 gene has been found to be a rare cause of EVA. EVA may also be rarely caused by digenic inheritance of heterozygous mutations in the SLC26A4 and FOXI1 genes, or in the SLC26A4 and KCNJ10 genes.


Abnormal upper motor neuron morphology

description: Any structural anomaly that affects the upper motor neuron.


Myocardial immune cell infiltration

description: An increase in the number of immune cells in myocardial tissue (which can be assumed to have migrated into the myocardium).


name: Medullary peritubular capillary lumen cholesterol emboli

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


Glomerular immune-complex deposition

description: Accumulation of immune deposits, containing immunoglobulins, complement, and other proteins, at various intraglomerular locations. This can lead to glomerulonephritis, with the type of injury that results being dependent on four factors: the mechanism of the deposit formation, the site of deposit formation, the composition of the deposits and the amount of the deposits.


Recurrent fractures

description: The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).


Abnormality of the tongue

description: Any abnormality of the tongue.


Anti-coccidioidal antibody positivity

description: The presence of antibodies in the blood circulation that react against a component of a fungus of the Coccidioides genus.


Fatty streak

description: Yellow-colored streaks, patches, or spots on the intimal surface of arteries. Fatty streaks stain red with Sudan III or Sudan IV.


Finger hyperphalangy

description: Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a digit. That is, there is an accessory phalanx that is arranged linearly with the other phalanges.


Central core regions in muscle fibers

description: The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric.


Arcuate artery intimal mucoid edema

description: Accumulation of edematous extracellular matrix in intima resembling mucus. This feature appears pale blue on hematoxylin and eosin staining.


Aplasia of the 1st metacarpal

description: Absent first metacarpal (long bone) of the hand.


Abnormality of skeletal maturation

description: The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation.


Abnormal jejunum morphology

description: An abnormality of the jejunum, i.e., of the middle section of the small intestine.


name: Decreased circulating ficolin 3 concentration

description: Concentration of ficolin 3 in the blood circulation below the lower limit of normal.


Fetor hepaticus

description: Fetor hepaticus is the characteristic breath of patients with severe parenchymal liver disease, which has been said to resemble the odor of a mixture of rotten eggs and garlic.


Diminished breath sounds

description: A reduction in the intensity of the breath sound as ascertained by auscultation of the lung.


name: Patchy sclerosis of the proximal phalanx of the 2nd finger

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


Chronotropic incompetence

description: Inability of the heart to increase its rate commensurate with increased activity or demand.


Bathrocephaly

description: A deformity of the posterior skull with bulging of the midportion of the occipital bone that is often associated with a benign variant of the mendosal suture.


Decreased serum thromboxane B2

description: A reduction in the concentration of thromboxane B2 in the blood circulation.


Platyspondyly

description: A flattened vertebral body shape with reduced distance between the vertebral endplates.


Elevated urine glycolate

description: An increased concentration of glycolate in the urine.


Aganglionosis of the small intestine

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


name: Percussion-induced rapid rolling muscle contractions

description: Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle.


Curved distal phalanx of the hallux

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


Focal verbal automatism seizure

description: A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset.


4-Hydroxyphenylpyruvic aciduria

description: Increased relative concentration of 4-hydroxyphenylpyruvic acid in the urine.


Cutaneous cyst

description: A hollow mass located in the skin that is surrounded by an epithelium-lined wall and is well demarcated from the adjacent tissue. Cysts are often said to be sac-like and may contain serous liquid or semisolid material.


Y-shaped metacarpals

description: Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly.


Progressive leg bowing

description: Progressive bending or abnormal curvature of the leg.


Abnormal functional residual capacity

description: A deviation from normal values for the functional residual capacity, which is defined as the volume remaining in the lungs after a normal, passive exhalation.


name: Decreased CSF 3-methoxy-4-hydroxyphenylglycolaldehyde concentration

description: The concentration of 3-methoxy-4-hydroxyphenylglycolaldehyde in the cerebrospinal fluid (CSF) is below the lower limit of normal.


name: Positive enterovirus urine nucleic acid test

description: Detection of enterovirus nucleic acid in the urine by a method such as polymerase chain reaction.


name: Aplasia/Hypoplasia of the 5th metacarpal

description: Aplasia or Hypoplasia affecting the 5th metacarpal.


Quadriceps muscle atrophy

description: Muscular atrophy involving the quadriceps muscle.


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

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


Ungual fibroma

description: Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold) or subungual (originating under the nail plate).


name: Abnormal pulmonary thoracic imaging finding

description: This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density.


Exercise-induced U wave inversion

description: U wave inversion that is induced by exercise stress testing.


name: Agenesis of permanent maxillary lateral incisor

description: Agenesis of one or more upper lateral secondary incisor.


name: Elevated circulating pristanic acid concentration

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


Abnormal pericardium morphology

description: An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery.


Extremely elevated creatine kinase

description: An increased creatine kinase level more than 50X above the upper normal level.


Labial adhesion

description: Synechia vulvae (adhesions of the labia minora) are characterized by a complete or partial fusion of the labia minora in the midline.


Umbilical cord cyst

description: Any cystic lesion associated with the umbilical cord.


Bradylalia

description: Slow speech.


name: Triangular shaped proximal phalanx of the 5th finger

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


3-4 finger syndactyly

description: Syndactyly with fusion of fingers three and four.


Anti-measles antibody positivity

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


name: Compound motor action potential abnormality

description: An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibers in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fiber action potentials. The shortest latency of the CMAP is the time from stimulus artifact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV).


name: Elevated circulating lysophosphatidylcholine concentration

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


2--hydroxyphenylacetic aciduria

description: Increased concentration of 2-hydroxyphenylacetic acid in the urine.


Purely bicuspid aortic valve

description: A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis.


Autoamputation

description: Auto-amputation is the spontaneous detachment of an appendage from the body due to long standing pathology.


Increased cerebral lipofuscin

description: Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.


Abnormal fingertip morphology

description: An abnormal structure of the tip (end) of a finger.


name: Reduced circulating interleukin 10 concentration

description: An abnormally decreased concentration of interleukin 10 in the blood circulation.


Rachitic rosary

description: A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib.


Myocardial sarcomeric disarray

description: A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and actin that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes.


Positive blood barbiturate test

description: Detection of barbiturate metabolites such as Phenobarbital in blood.


name: Increased level of N-acetylneuraminic acid in fibroblasts

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


name: Cortical irregularity of humeral diaphysis

description: An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus.


Aplasia/Hypoplasia of the earlobes

description: Absence or underdevelopment of the ear lobes.


name: Abnormality of the phalanges of the 5th toe


Curved distal phalanx of the 2nd toe

description: A deviation from the normal straight form of the distal phalanx of the 2nd toe.


name: Muscle hypertrophy of the lower extremities

description: Muscle hypertrophy primarily affecting the legs.


name: Thinning of outer muscular layer of small bowel

description: The depth of the outer muscular layer of the small bowel is below the lower limit of normal.


Asymmetric limb muscle stiffness

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


name: Absence of renal corticomedullary differentiation

description: A lack of differentiation between renal cortex and medulla on diagnostic imaging.


Vasovagal syncope

description: A vasovagal episode or vasovagal syncope is the most common form of reflex syncope. Reflex syncope is a general term used to describe types of syncope resulting from a failure in autoregulation of blood pressure, and ultimately, in cerebral perfusion pressure resulting in transient loss of consciousness. The mechanisms responsible for this are complex and involve both depression of cardiac output as well as a decrease in vascular tone.


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

description: Partial duplication of distal phalanx of third toe.


Hypoplastic ilia

description: Underdevelopment of the ilium.


Anteriorly placed odontoid process

description: Anterior mislocalization of the dens of the axis.


Seminal vesicle agenesis

description: A developmental defect characterized by congenital absence of the seminal vesicle.


Toe clinodactyly

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


name: Focal aware cognitive seizure with auditory agnosia

description: A focal cognitive seizure with auditory agnosia characterized by retained awareness throughout the seizure.


name: Abnormality of the distal phalanx of the 3rd toe


Visceral hemangioma

description: A hemangioma arising from within visceral structures, the internal organs of the body.


name: Diminished integration of verbal and non-verbal communicative behavior

description: A communicative abnormality where one's nonverbal and verbal communication are poorly integrated. This may occur when verbal and nonverbal communication are intact alone but are abnormal when used together, or an abnormality in the use of typically integrated communication such as the use of beat gestures during speech.


Intratubular calcium phosphate casts

description: Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney.


Spinal neurenteric cyst

description: A neurenteric cyst located in the spine.


Anti-GD1b IgM antibody positivity

description: The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside.


name: Atrophy/Degeneration involving the caudate nucleus


Uniparental Isodisomy

description: A type of uniparental disomy in which the two identical chromosomes (or chromosome segments) of the same parent are transmitted.


name: Anti-nuclear matrix protein-2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NXP-2.


Bilateral breast hypoplasia

description: Underdevelopment of the breast on both sides.


Amniotic constriction rings of legs

description: Amniotic constriction rings affecting the legs.


Hallucinations

description: Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space.


name: Abnormal morphology of the pelvis musculature


Mesangial fibrillary deposits

description: Extracellular mesangial aggregates composed of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material.


Thin spermatozoon midpiece

description: The cross-sectional size (diameter) of the midpiece of the spermatozoon is below the lower limit of normal. This term applies if the proportion of spermatozoa with this defect is above the upper limit of normal.


Abnormality of genioglossus muscle

description: An abnormality of a genioglossus muscle.


Joint contracture of the 3rd finger

description: Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected.


Abnormal ossification of the pubic bone

description: Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis.


Prefrontal hypometabolism in FDG PET

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


Abnormal femoral neck morphology

description: An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).


name: Intrahepatic cholestasis with episodic jaundice


Reticulate pigmentation of oral mucosa

description: A net-like pattern of increased pigmentation of the oral cavity.


Pill-rolling tremor

description: A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other.


name: Aplasia of the proximal phalanx of the hallux


Abnormal CSF histidine concentration

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


Postexertional symptom exacerbation

description: Post-exertional symptom exacerbation (PESE), also referred to as post-exertional malaise (PEM), is defined as the worsening of symptoms that can follow minimal cognitive, physical, emotional, or social activity, or activity that could previously be tolerated. Symptoms typically worsen 12 to 72 hours after activity and can last for days or even weeks, sometimes leading to a relapse.


Antiparietal cell antibody positivity

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


Hematemesis

description: The vomiting of blood.


Sacral hypertrichosis

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


Aplasia/Hypoplasia of the thymus

description: Absence or underdevelopment of the thymus.


Elevated mean arterial pressure

description: An abnormal increase in the average blood pressure in an individual during a single cardiac cycle.


Recurrent protozoan infections

description: Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection.


Paranasal sinus hypoplasia

description: Underdevelopment of the paranasal sinuses.


Extra-abdominal umbilical vein varix

description: Focal dilatation of the extra-abdominal portion of the umbilical vein. An extra-abdominal umbilical varix is difficult to diagnose prenatally as it can appear like a cyst on ultrasound prior to birth.


Palmar neurofibroma

description: A neurofibroma (benign peripheral nerve sheath tumor) localized in the palm of the hand.


Demonstration of Leishmania in tissue

description: Presence of Leishmania, a parasitic protozoan, in a tissue specimen. Leishmania is responsible for leishmaniasis.


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

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


Patchy sclerosis of 2nd toe phalanx

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


name: Abnormal circulating tryptophan concentration

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


name: Ulnar deviation of the hand or of fingers of the hand


Chondroitin sulfate excretion in urine

description: An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine.


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

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


Hypoglycosylation of alpha-dystroglycan

description: A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue.


Urticarial plaque

description: A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter.


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

description: Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger.


Superior crossed-fused renal ectopia

description: A type of cross fused renal ectopia in which the ectopic kidney lies superiorly and its lower pole fuses with the upper pole of the normal kidney. The renal pelvis of both kidneys lies anteriorly.


Multiflagellar spermatozoa

description: Spermatozoa with multiple flagella attached to the sperm head.


name: Childhood onset sensorineural hearing impairment

description: Sensorineural hearing impairment with childhood onset.


Broad forearm bones

description: Abnormally wide bone of the skeleton of forearm.


Mirror image foot polydactyly

description: Mirror image duplication of digits affecting the feet.


Low 10-minute APGAR score

description: A normal APGAR score can be coded as 'not Low 10-minute APGAR score'.


Basal lamina onion bulb formation

description: A type of onion bulb formation prominently affecting the area of the basal lamina.


name: Elevated CSF neurofilament light chain concentration

description: Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large caliber myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases.


name: Recurrent gram-negative bacterial infections

description: Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents.


name: Duplication of the distal phalanx of the hallux


Cone-shaped capital femoral epiphysis

description: A cone-shaped deformity of the proximal epiphysis of the femur.


Right ventricular regional dyskinesia

description: A region of the right ventricle exhibits abnormal contraction (dyskinesia) compared to the rest of the ventricle, leading to outward bulging or ballooning during contraction or inadequate inward movement.


Semilunar tooth

description: An incisor with a half-moon shape incisal edge.


name: Aplasia/Hypoplasia involving bones of the skull


Extension contracture of toe

description: A type of toe joint contracture in which the joint lacks full expected flexion, so that the two bony segments on either side of their connecting joint cannot be brought together.


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


Abnormality of skin adnexa physiology

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


name: Increased erythrocyte coproporphyrin concentration

description: Concentration of coproporphyrin in erythrocytes above the upper limit of normal.


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

description: A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.


name: Focal impaired awareness cognitive seizure with dysgraphia/agraphia

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


Abnormal enchondral ossification

description: An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage.


name: Abnormal circulating nicotinurate concentration

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


name: Osteolytic defects of the proximal phalanx of the 4th finger

description: Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger.


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

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


Respiratory alkalosis

description: Alkalosis due to excess loss of carbon dioxide from the body.


name: Patchy sclerosis of the distal phalanx of the 2nd toe


Peripheral pulmonary artery stenosis

description: Stenosis of a peripheral branch of the pulmonary artery.


Telangiectasia of the skin

description: Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.


Reduced subcutaneous adipose tissue

description: A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness.


Hammertoe

description: Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.


Delayed ossification of pubic rami

description: Delayed maturation and calcification of the rami (branches) of the pubic bone.


Arcuate intimal/medial venulitis

description: Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural.


name: Excessive insulin response to glucagon test

description: An abnormally high increase in insulin levels following a glucagon stimulation test.


Elevated carcinoma antigen 125 level

description: An increased blood concentration of carcinoma antigen 125 (CA-125). CA-125, also known as mucin 16, can exhibit increased blood levels in certain types of cancer.


Deep palmar crease

description: Excessively deep creases of the palm.


Periungual teleangiectasia

description: Telangiectasia (small dilated blood vessels) located near to the fingernails or toenails.


Branched-chain aminoaciduria

description: An increased level of a branched chain family amino acid in the urine.


Reduced CSF cystine concentration

description: Concentration of cystine in the cerebrospinal fluid below the lower limit of normal. Cystine is sulfur-containing amino acid obtained by the oxidation of two cysteine molecules which are then linked via a disulfide bond.


Tapered phalanx of finger

description: Phalanges of the fingers becoming thinner toward the distal end.


Alveolar septal thickening

description: Increased width of the alveolar septum, which is the structure that separates neighboring alveoli. This finding can be appreciated on histology.


Positive urine amphetamine test

description: Detection of amphetamine or its metabolites in urine.


name: Increased circulating specific IgE antibody


Deficit in nonword repetition

description: Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory.


name: Decreased Wiskott-Aldrich syndrome protein concentration in hematopoietic cells

description: The concentration of Wiskott-Aldrich syndrome protein in hematopoietic cells is below the lower limit of normal. This feature is measured by flow cytometry or Western blotting.


name: EMG: repetitive nerve stimulation abnormality

description: Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz.


Airway mucosal thickening

description: Increase in thickness of the mucosa of the airways above the upper limit of normal.


name: Decreased circulating transcobalamin II concentration

description: Concentration of transcobalamin II in the blood circulation below the lower limit of normal.


Femoral arterial calcification

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


Coronary sinus diverticulum

description: A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus.


Limited shoulder abduction

description: Decreased ability to move the arm away from the midline of the body.


name: Increased circulating lipoprotein lipase concentration

description: Increased concentration of lipoprotein lipase in the blood circulation.


Basilar impression

description: Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum.


Limited hip movement

description: A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip.


name: Partial absence of specific antibody response to meningococcus vaccine

description: A reduced ability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination.


name: Abnormal proportion of naive CD4 T cells

description: Any abnormality in the proportion of naive CD4 T cells relative to the total number of T cells.


Small foramen magnum

description: An abnormal narrowing of the foramen magnum.


Elevated lactate:pyruvate ratio

description: An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation.


name: Abnormal pituitary glycoprotein hormone alpha subunit level

description: Any deviation from the normal concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081).


Focal-onset epileptic spasm

description: A type of epileptic spasm of focal onset.


Myotonia of the jaw

description: Slowed relaxation of muscles in the jaw.


name: Increased circulating fetuin A concentration

description: An elevation above normal of fetuin A in the blood circulation.


Reduced muscle telethonin level

description: Amount of telethonin protein expression in muscle tissue below lower limit of normal. Telethonin is a 19-kDa sarcomeric protein, localized to the Z-disc of skeletal and cardiac muscles.


Amyoplasia

description: Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue.


Moderate expressive language delay

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


Anti-D-L antibody positivity

description: The presence of Donath-Landsteiner (D-L) autoantibodies (immunoglobulins) in the serum.


Positive stool barbiturate test

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


Enlarged vertebral pedicles

description: Increased size of the vertebral pedicle.


Finger syndactyly

description: Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism".


Continuous involuntary vocalizations

description: Continuous groaning, moaning, grunting, and shrieking.


name: Elevated urinary N-tau-ribosylhistidine level

description: Presence of N tau-ribosylhistidine (His-R) in the urine. His-R is a histidine derivative found in the urine of histidinemic patients.


Second toe symphalangism

description: Fusion of the interphalangeal joints of the 2nd toe.


occipital encephalocele

description: A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.


Increased waist to hip ratio

description: Increased waist-to-hip ratio (WHR) is a measurement above the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement.


Exercise-induced myalgia

description: The occurrence of an unusually high amount of muscle pain following exercise.


name: Reduced respiratory ciliary beating frequency

description: An abnormal reduction in the number of beats per unit time of the respiratory cilia.


name: Patchy sclerosis of the proximal phalanx of the 2nd toe


name: Anti-beta-2-Glycoprotein I IgM antibody positivity

description: Presence of IgM antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome.


Labial melanotic macule

description: Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture.


name: Fetal intraventricular hemorrhage without ventriculomegaly

description: A type of fetal intraventricular hemorrhage characterized by clear hemorrhage spillover to the ventricles filling less than 50% of the lateral ventricle and without ventriculomegaly of greater than 15 mm in the transverse diameter of the lateral ventricular atrium.


Subchorionic thrombohematoma

description: A large maternal clot that separates the chorionic plate from the villous chorion.


Abnormal tendon morphology

description: An abnormality of the structure or form of the tendons, also often called sinews.


name: Fractured middle phalanx of manual digit 4

description: A partial or complete breakage of the middle phalanx of manual digit 4.


Increased circulating T4 concentration

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


Fractured hand bones

description: A traumatic break in one or more of the bones in the hand.


Chronic tinea infection

description: The term tinea means fungal infection, whereas dermatophyte refers to the fungal organisms that cause tinea. This term refers to a tinea infection that is chronic or recalcitrant to treatment and may be reflective of an immune defect.


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


Chronic decreased circulating IgE

description: A lasting reduction beneath the normal level of total immunoglobulin E (IgE) in the blood.


Non-motor seizure

description: A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown.


Fractured lower leg

description: Bone fracture anywhere in the tibia, fibula, or ankle.


name: Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal

description: Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal.


Acromelia of the upper limbs

description: Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments.


Anti-GT1b antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1b ganglioside.


name: Increased proportion of immature B cells

description: An elevation in the proportion above normal of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).


Bacteria in cerebrospinal fluid

description: Presence of bacteria in the cerebrospinal fluid, as manifested by visual inspection or bacterial culture results.


anisomastia

description: The presence of asymmetrical breasts.


Cleft lip

description: A gap in the lip or lips.


name: Reduced circulating complement factor H related protein 1 concentration

description: Decreased level of circulating complement factor H related protein 1 concentration in the blood circulation.


Cutaneous hamartoma

description: A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin.


Decreased HDL3c concentration

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


Early satiety

description: The condition of being unable to eat a full meal because of a feeling of fullness (satiety), or or feeling very full after eating only a small amount of food.


name: Increased left ventricular end-diastolic volume

description: Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole).


benign urinary system neoplasm

description: A non-metastasizing neoplasm that arises from the organs that comprise the urinary system. Representative examples include renal oncocytoma, bladder inverted papilloma, and urothelial papilloma.


name: Increased stool alpha1-antitrypsin concentration

description: An abnormally elevated amount of alpha1-antitrypsin in the feces.


Focal cortical dysplasia type IIId

description: A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to other lesions acquired during early life (not included into FCD Type IIIa-c). These lesions comprise a large spectrum including traumatic brain injury, glial scarring after prenatal or perinatal ischemic injury or bleeding, and inflammatory or infectious diseases, i.e. Rasmussen encephalitis, limbic encephalitis, bacterial or viral infections.


second branchial cleft anomaly

description: A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck.


Femoral spur

description: A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck.


name: Absent circulating immunoglobulin kappa chain

description: Nondetectable kappa chain in the blood circulation.


Short distal phalanx of hallux

description: Underdevelopment (hypoplasia) of the distal phalanx of big toe.


Reduced delayed hypersensitivity

description: Decreased ability to react to a delayed hypersensitivity skin test.


name: Decreased circulating apolipoprotein B concentration

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


Flared lower limb metaphysis

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


name: Elevated circulating hexanoylcarnitine concentration

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


Abnormal interlobular vein morphology

description: Any structural anomaly of the interlobular veins of the kidney. An interlobular vein is surrounded by the renal cortex and located between renal lobules (consisting of the nephrons surrounding a single medullary ray and draining into a single collecting duct).


Reduced vital capacity

description: An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung.


Distal femoral bowing

description: A bending or abnormal curvature of the distal portion of the femur.


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


name: Fragmentation of the epiphysis of the middle phalanx of the 4th finger

description: Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger.


Abnormal CSF urate concentration

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


Positive plasma/serum cotinine test

description: Detection of cotinine, an alkaloid found in tobacco and the predominant metabolite of nicotine, in plasma or serum.


Urethral stricture

description: Narrowing of the urethra associated with inflammation or scar tissue.


name: Abnormal blood transition element cation concentration

description: An abnormality of the homeostasis (concentration) of transition element cation.


name: Abnormal blood 5-methyltetrahydrofolate level

description: An abnormal concentration of 5-methyltetrahydrofolate in the blood.


Branchial sinus

description: A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal.


Generalized bone demineralization

description: A generalized decrease in bone mineral density.


Neonatal short-limb short stature

description: A type of short-limbed dwarfism that is manifest beginning in the neonatal period.


Fasciculations

description: Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.


name: Abnormal atrioventricular valve physiology

description: Any functional defect of the mitral or tricuspid valve.


name: Reduced tissue UDP-glucuronyl-transferase activity

description: Concentration or activity of uridine diphosphate glucuronosyltransferase below the lower limit of normal. The activity of this enzyme can be measured in liver and rarely in other tissues.


Abnormal gametogenesis

description: An anomaly in the process by a a haploid cell is formed from a diploid cells through meiosis. In males, diploid spermatogonia produce two haploid cells (secondary spermatocytes) in meiosis I and four haploid spermatids in meiosis II. In females, primordial germ cells under meiosis II before birth to form primary oocytes. Once puberty cell begins, these cells form secondary oocytes through meiosis II.


name: Widely-spaced maxillary central incisors

description: Increased distance between the maxillary central permanent incisor tooth.


Paroxysmal rectal pain

description: Excruciating burning pain in the rectal area that may be triggered by defecation.


name: Triangular epiphyses of the phalanges of the hand

description: A triangular appearance of the epiphyses of the phalanges of the fingers of the hand.


Carotid cavernous fistula

description: An abnormal connection between a carotid artery and the cavernous sinus.


name: Narrow anterio-posterior vertebral body diameter

description: An abnormal reduction of the anterioposterior diameter of the vertebral body.


Abnormal position of hair whorl

description: Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull.


name: Elevated urine guanidinoacetic acid level

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


name: Symphalangism affecting the proximal phalanges of the toes


name: Hypothalamic luteinizing hormone-releasing hormone deficiency

description: Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus.


name: Elevated circulating lathosterol concentration

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


Type 3 schizencephaly

description: A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal gray matter.


Elevated plasma cell count

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


Episodic vomiting

description: Paroxysmal, recurrent episodes of vomiting.


Agenesis of the anterior commissure

description: Absence of the anterior commissure.


nipples inverted

description: The presence of nipples that instead of pointing outward are retracted inwards.


Short clavicles

description: Reduced length of the clavicles.


Abnormal corpus callosum morphology

description: Abnormality of the corpus callosum.


name: Focal aware cognitive seizure with conduction dysphasia/aphasia

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


Interlobular intima/media venosclerosis

description: Thickening of the intima with fibrosis and/or duplication of the elastic lamina in interlobular veins of the kidney.


Adverse drug response

description: An unpleasant or harmful reaction resulting from treatment with a drug.


Advanced tarsal ossification

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


Delivery by Odon device

description: The Odon device is an instrument for assisted vaginal deliveries that is applied on the head of the baby and used to apply traction to assist the birth process.


Enlarged hippocampus

description: Increase in size of the hippocampus.


Intratubular bilirubin casts

description: A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On H&E (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green).


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

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


name: Enlarged epiphysis of the distal phalanx of the hallux


name: Arteriovenous fistulas of celiac and mesenteric vessels


Abnormal peritoneum morphology

description: An abnormality of the peritoneum.


Abnormality of head or neck

description: An abnormality of head and neck.


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


Abnormal external nose morphology

description: An abnormality of the external nose.


exercise-induced malignant hyperthermia

description: Malignant hyperthermia that is characterized by exercise-induced life-threatening hyperthermia with a body temperature over 40 degrees C and signs of encephalopathy ranging from confusion to convulsions or coma. Incidence increases with rising ambient temperature and relative humidity. Manifestations may include rhabdomyolysis (presenting with myalgia, muscle weakness, and myoglobinuria), tachycardia, and in severe cases multiorgan failure.


Metacarpophalangeal joint contracture

description: A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.


Upper limb muscle weakness

description: Weakness of the muscles of the arms.


Anterior creases of earlobe

description: Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe.


Patchy sclerosis of 5th finger phalanx

description: Uneven increase in bone density of one or more of the phalanges of the 5th finger.


Receptive language delay

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


name: Difficulty understanding nonliteral meaning of conversation


Anti-HLA-B antibody positivity

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


name: Absent epiphysis of the proximal phalanx of the thumb

description: Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Reduced prothrombin consumption

description: The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia.


Intellectual disability, borderline

description: Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.


name: Reduced 3-phosphoglycerate dehydrogenase activity

description: Diminished activity of the enzyme 3-phosphoglycerate dehydrogenase (PGDH), which catalyzes the first step in the pathway by converting D-3-phosphoglycerate (PGA), an intermediate in glycolysis, to phosphohydroxypyruvate concomitant with the reduction of NAD+.


Fusiform aortic arch aneurysm

description: A concentric abnormal localized widening (dilatation) of the aortic arch that involves the full circumference of the vessel wall.


EMG: chronic denervation signs

description: Evidence of chronic denervation on electromyography.


Absent scrotum

description: Congenital absence of the scrotum.


name: Osteolysis involving bones of the upper limbs


Anti-SOX1 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SOX1. Anti-SOX1 antibodies, also known as antiglial nuclear antibody (AGNA), are specifically found in paraneoplastic neurological disorders. Since SOX1 is expressed in neuronal precursor cells in the developing central nervous system, it has been used as an early marker of neural stem cells.


name: Ventilator dependence with inability to wean


Bloodstream Trypanosoma cruzi

description: Presence of Trypanosoma cruzi in the blood stream. Trypanosoma cruzii is the etiological agent of Chagas disease.


Protuberances at ends of long bones

description: The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones.


teeth, fused

description: The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch.


Bronchial artery hypertrophy

description: Increase in the volume of bronchial artery wall due to the enlargement of its component cells.


Recurrent herpes

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


Lemon sign

description: The lemon sign refers to the shape of the fetal skull at ultrasonography (US) when the frontal bones lose their normal convex contour and appear flattened or inwardly scalloped. This gives the skull a shape that is said to resemble a lemon.. The sign is seen on transverse sonograms of the fetal cranium obtained at the level of the ventricles.


Focal absence of the external ear

description: Absence of a localized portion of the ear that cannot be described by a more precise term (e.g., absent ear lobe).


cervical rib disease

description: A rib that is attached to a cervical vertebra or enlarged transverse processes.


familial congenital mirror movements

description: Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected.


congenital vertical talus

description: Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus.


Shivering

description: Involuntary contraction or twitching of the muscles.


Fingerprint bodies

description: Fingerprint bodies are inclusion bodies located at the periphery of the muscle fibers underneath the sarcolemma (subsarcolemmal), consisting of non-membrane-bound packed lamellae arranged in concentric patterns resembling fingerprints.


Nasal hamartoma

description: A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the nose.


Fibular duplication

description: Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition.


Abnormal periosteum morphology

description: An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones.


name: Increased reactive oxygen species production

description: An accumulation of free radical groups in the body inadequately neutralized by antioxidants, which creates a potentially unstable and damaging cellular environment linked to tissue damage.


name: Cortical radial artery lymphocyte hypercellularity

description: A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of cortical radial arteries.


Granulomatous coronary arteritis

description: Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.


Anterior mediastinal mass

description: A type of inferior mediastinal mass that is located in front of the pericardium.


Costovertebral angle tenderness

description: Pain that is elicited by palpation of the region inside of the costovertebral angle, which is formed by the 12th rib and the spine.


Moderate global developmental delay

description: A moderate delay in the achievement of motor or mental milestones in the domains of development of a child.


commissural facial cleft

description: Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)


bifid nose

description: Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated.


Fractured distal tarsal bone 3

description: A partial or complete breakage of the distal tarsal bone 3.


Pelvic arteriovenous malformation

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


Subependymal cysts

description: Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life.


Abnormality of the scalp hair

description: An abnormality of the hair of head.


gingival recession

description: A loss of gum tissue resulting in an exposure of the roots of the teeth.


name: Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine

description: The inability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.


name: Impaired annexin V binding to platelet phosphatidylserine

description: Reduced binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry.


Cessation of head growth

description: Stagnation of head growth seen as flattening of the head circumference curve.


Short ribs

description: Reduced rib length.


Facial hyperostosis

description: Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton.


Nail pits

description: Small (typically about 1 mm or less in size) depressions on the dorsal nail surface.


name: Chronic partially decreased circulating IgG1

description: A lasting limited decrease of immunoglobulin G1 (IgG1) in the blood.


2-4 toe syndactyly

description: Syndactyly with fusion of toes two to four.


EMG: slow motor conduction

description: The presence of reduced conduction velocity of motor nerves on electromyography.


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