Photosensitive tonic-clonic seizure

description: Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light.


testicular teratoma

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

description: A non-seminomatous germ cell tumor arising from the testis. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). Testicular teratomas in children follow a benign clinical course whereas in postpubertal patients may metastasize to other anatomic sites.


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

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


Pseudoepiphyses of the 3rd finger

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


Plaque-like facial hemangioma

description: Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology.


Abnormal fetal nasal bone visualization

description: Abnormal appearance or non-visualization (apparent absence) of the nasal bone of a fetus in first trimester sonographic screening. Assessment of the fetal nasal bone is generally performed at 11-14 weeks gestational age.


Action myoclonus

description: A type of myoclonus (arrhythmic muscular jerking) that is induced by voluntary movement. It is made worse by attempts at precise or coordinated movement (intention myoclonus) and may also be provoked by certain sensory stimuli.


Abnormal HDL cholesterol concentration

description: Any deviation from the normal concentration of high-density lipoprotein cholesterol (HDL) in the blood.


name: Increased density of left ventricular trabeculae

description: An increased density (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae).


osteochondritis dissecans

description: A rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis.


Acetabular spurs

description: The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum.


name: Focal autonomic seizure with pupillary dilation/constriction

description: A type of focal autonomic seizure characterized by pupillary dilatation or contraction as the initial semiological feature.


Vertebral artery aneurysm

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


name: Elevated circulating hydroxybutyric acid concentration

description: An increased concentration in the blood circulation of a hydroxybutyric acid, that is, of a compound comprising a butyric acid core carrying at least one hydroxy substituent.


Elbow pain

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


Aplastic clavicle

description: Absence of the clavicles as a developmental defect.


Peroneal muscle atrophy

description: Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius).


Appendiceal mucinous neoplasm

description: An epithelial neoplasm originating in the appendix and often associated with cystic dilation of the appendix due to accumulation of gelatinous material, morphologically referred to as mucoceles.


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

description: Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.


Flattened metatarsal heads

description: Abnormally flat shape of the heads of the metatarsal bones.


name: Bicuspid aortic valve with right-left cusp fusion

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


High 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 above the upper limit of normal.


Multiple small bowel atresias

description: The presence of multiple areas of atresia affecting the small intestine.


name: Abnormal circulating prealbumin concentration

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


name: Abnormality of prenatal development or birth

description: An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.


complete atrioventricular canal

description: Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterized by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow.


Chiari malformation type 3

description: A type of Chiari malformation that involves herniation of the hindbrain (cerebellum with or without the brainstem) into a low occipital or high cervical meningoencephalocele.


Recurrent fungal infections

description: Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.


Self-biting

description: Habitual biting of one's own body.


Triangular tibia

description: A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle directed laterally.


Selective mutism

description: Voluntary failure to use spoken language (at whatever level attained) in selective social contexts over a period of time.


Genu varum

description: A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.


name: Organized thrombi within interlobular vein lumen

description: Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the interlobular veins of the kidney.


Prominent inferior crus of antihelix

description: Increased protrusion of the inferior crus relative to the prominence of the antihelix stem.


Labial abscess

description: A circumscribed area of pus or necrotic debris in the labia.


Axonal regeneration

description: The presence of axonal regeneration following a previous axonal lesion.


description: Generalised myoclonic-tonic-clonic seizure provoked by flashing or flickering light.


name: Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration

description: An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by retained awareness throughout the seizure.


Carpal bone hypoplasia

description: Underdevelopment of one or more carpal bones.


Hypoplastic acetabulae

description: Underdeveloped acetabulae.


Cleft of chin

description: Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin.


vulvar melanoma

description: A usually pigmented, nodular or polypoid malignant neoplasm that originates from melanocytes and arises from the vulva. It presents with bleeding and dysuria.


Peripheral lung neovascularity

description: The presence of small, tortuous, micronodular, serpiginous intrapulmonary vessels often in the subpleural lung or in proximity to centrilobular arterioles, coursing in directions inconsistent with known arteriolar anatomy.


U-Shaped upper lip vermilion

description: Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures.


Edema of the dorsum of feet

description: An abnormal accumulation of fluid beneath the skin on the back of the feet.


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

description: Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger.


name: Aplasia of the distal phalanges of the toes

description: Absence of the distal phalanges of the toes.


Craniofacial hyperostosis

description: Excessive growth of the craniofacial bones.


name: Abnormality of the kinin-kallikrein system


hyperlysinemia

description: Hyperlysinaemia is a lysine metabolism disorder characterized by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.


Abnormal urine output

description: An abnormal amount of urine production.


Fibrofolliculoma

description: Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation.


name: Mesial parasagittal subcortical heterotopia

description: Subcortical heterotopia extending along the mesial aspect of the lateral ventricles, with direct connection to mesial polymicrogyria-like cortex at the anterior and posterior limits of the heterotopia.


name: Abnormal resting energy expenditure from metabolic cart test

description: Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2).


name: Abnormal umbilical blood flow measurement


name: 2nd-5th toe middle phalangeal hypoplasia


Abnormality of dorsal nasal artery

description: An abnormality of a dorsal nasal artery.


Broad 3rd toe

description: A broad appearance of the third toe.


Abnormal urine carboxylic acid level

description: Any deviation from the normal concentration of a carboxylic acid in the urine.


Ventral hernia

description: Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall.


renal hypomagnesemia 2

description: Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.


name: Cone-shaped epiphysis of the proximal phalanx of the 3rd finger

description: A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd 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.


Basal ganglia gliosis

description: Focal proliferation of glial cells in the basal ganglia.


CNS hypomyelination

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


Branchial fistula

description: A congenital fistula in the neck resulting from incomplete closure of a branchial cleft.


Painless fractures due to injury

description: An increased tendency to fractures following trauma, with fractures occurring without pain.


name: Elevated circulating isovalerylcarnitine concentration

description: Concentration of O-isovalerylcarnitine in the blood circulation above the upper limit of normal.


Abnormality of dental color

description: A developmental defect of tooth color.


Middiastolic murmur

description: A murmur that occurs in the middle of the diastolic phase.


Abnormal pattern of respiration

description: An anomaly of the rhythm or depth of breathing.


Decreased circulating osteocalcin level

description: A reduced level of osteocalcin in the blood.


Leg dystonia

description: A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs.


Palatine myxoma

description: A myxoma (A benign tumor composed of myxomatous tissue composed of loosely-arranged spindle, polygonal, and stellate cells) localized to the palate. Clinically, such tumors may present as a sessile nodule on the hard palate.


Fetal neck mass

description: An abnormal growth (lump) of tissue in the neck region of a fetus. Masses may be simple cystic,, cystic with a few simple septations (fewer than three septations and less than 3-mm thick), cystic with multiple or thick septations (greater than three septations or septations 3-mm-thick or more), a mass that is than is less than 50% solid, and a mass that is 50% solid or more.


Air bronchogram

description: An air bronchogram is a pattern of air-filled (low-attenuation) bronchi on a background of opaque (high-attenuation) airless lung. The sign implies (a) patency of proximal airways and (b) evacuation of alveolar air by means of absorption (atelectasis) or replacement (eg, pneumonia) or a combination of these processes. In rare cases, the displacement of air is the result of marked interstitial expansion (eg, lymphoma).


name: Pulmonary interstitial lymphocyte infiltration

description: Abnormal accumulation of lymphocytes in the interstitium of the lung.


optic nerve glioma

description: A glioma that affects the optic nerve. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group.


linear nevus sebaceous syndrome

description: Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement).


name: Elevated circulating D-glyceric concentration

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


Abnormality of canine

description: An abnormality of canine tooth.


Laryngeal obstruction

description: Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress.


name: Osteolytic defects of the middle phalanges of the toes


Anti-GluK2 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamate kainate receptor subunit 2 (GluK2).


Anti-sphingolipid antibody positivity

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


Synostosis involving the 1st metacarpal

description: Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 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.


Delayed eruption of primary teeth

description: Delayed tooth eruption affecting the primary dentition.


name: Bullet-shaped middle phalanx of the 2nd toe

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


Incomplete ossification of pubis

description: Failure to complete ossification (maturation and calcification) of the pubic bone.


name: Focal impaired awareness undressing automatism seizure

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


Abnormality of the acoustic reflex

description: An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation.


Spastic triplegia

description: Spastic weakness found in both lower extremities and one upper extremity.


name: Abnormality of the distal phalanx of the thumb

description: Any anomaly of the distal phalanx of thumb.


Absent fifth metatarsal

description: A developmental abnormality characterized by the absence of the fifth metatarsal bone.


Bulging of the costochondral junction

description: Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage.


Sulfur-containing abscess

description: An abscess containing tiny yellow clumps (sulfur granules), formed by infection with Actinomyces and generally associated with a granulomatous and suppurative infection.


name: Premature delivery because of cervical insufficiency or membrane fragility


name: Irregular articular surfaces of the elbow joints


Abnormal scapula morphology

description: Any abnormality of the scapula, also known as the shoulder blade.


sirenomelia

description: Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth.


Midline notching of lower lip

description: Exaggerated indentation at the very middle (midline) of the lower lip.


Scaling skin on fingertip

description: Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips.


Hyperperistalsis

description: Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine.


Primitive reflex

description: The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.


Abnormal relationship

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


3-4 toe syndactyly

description: Syndactyly with fusion of toes three and four.


AA amyloidosis

description: Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement.


Toenail onycholysis

description: Painless and spontaneous separation of a toenail from the nail bed.


name: Focal impaired awareness behavior arrest seizure

description: A focal behavior arrest seizure characterized by impaired awareness at some point during the seizure.


Persistent CMV viremia

description: Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation.


Subcutaneous neurofibroma

description: A neurofibroma (benign peripheral nerve sheath tumor) localized in the subcutis (subcutaneous region).


Medication crystalluria

description: A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber color. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance.


Chronic absent circulating IgE

description: A lasting absence of immunoglobulin E (IgE) in the blood circulation, whereby at most trace quantities of IgE can be measured.


Dense metaphyseal bands

description: Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex.


name: Abnormal proportion of exhausted T cells

description: A deviation from the normal proportion of exhausted T cell relative to T cell in the blood.


hypolipoproteinemia

description: Conditions with abnormally low levels of lipoproteins in the blood. This may involve any of the lipoprotein subclasses, including alpha-lipoproteins (high-density lipoproteins); beta-lipoproteins (low-density lipoproteins); and prebeta-lipoproteins (very-low-density lipoproteins).


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


Delusion of infidelity

description: A false belief that a person is the victim of his or her partner's unfaithfulness.


Macular purpura

description: Purpura that is flat (non-palpable, not raised).


Short middle phalanx of toe

description: Developmental hypoplasia (shortening) of middle phalanx of toe.


Cerebral white matter hypoplasia

description: Underdevelopment of the cerebral white matter.


Abnormal pulmonary vein morphology

description: An abnormality of the structure of the pulmonary veins.


name: Abnormal proximal femoral metaphysis morphology

description: An anomaly of the metaphysis of the proximal femur (close to the hip).


Irregular capital femoral epiphysis

description: Irregular surface of the normally relatively smooth capital femoral epiphysis.


name: Anomalous origin of left pulmonary artery from ascending aorta

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


name: Elevated CSF 14-3-3 protein concentration

description: The concentration of 14-3-3 protein in the cerebrospinal fluid (CSF) is above the upper limit of normal.


scrotum neoplasm

description: A benign or malignant neoplasm that affects the scrotum.


Plantar hyperkeratosis

description: Hyperkeratosis affecting the sole of the foot.


colonic atresia

description: Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns.


Late systolic murmur

description: A murmur that occurs in the latter phase of systole.


Abnormal atrial arrangement

description: Abnormality of the spatial relationship of the atria to other components of the heart.


Supraumbilical raphe

description: An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button).


Impaired renal uric acid clearance

description: A reduction in the ability of the kidneys to remove uric acid from the serum.


Supravalvar pulmonary stenosis

description: A cardiovascular malformation associated with narrowing at the level of the pulmonary sinotubular junction above the pulmonic valve.


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


Anti-AMPAR antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR).


EEG with occipital sharp waves

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


Axillary apocrine gland hypoplasia

description: Developmental hypoplasia of the apocrine sweat glands in the region of the axilla.


Abnormal antral follicle count

description: Any deviation from a count of antral follicles that is normal for age. Antral follicles appear as small fluid-filled sacs that contain an immature egg. Antral follicle count can be measured (usually on day 2-5 of the menstrual cycle) by transvaginal ultrasound. The number of antral follicles may reflect ovarian reserve.


tracheal disorder

description: A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma.


true hermaphroditism

description: A rare condition characterized by the unequivocal presence of both testicular and ovarian tissues in an individual. It is usually manifested with ambiguous external genitalia.


apodia

description: The total absence of the foot, with no bony elements distal to the tibia or fibula.


name: Focal impaired awareness cognitive seizure with illusion

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


Intramural intestinal gas

description: The presence of extraluminal gas within the bowel wall.


name: Focal impaired awareness emotional seizure with agitation

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


Absent middle phalanx of 5th finger

description: Absence of the middle phalanx of the little (5th) finger.


Orthotopic os odontoideum

description: Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process.With dystopic os odontoideum, the ossicle is located near the basion or is fused with the clivus.


Meconium pseudocyst

description: A meconium-containing cyst in the peritoneal space . Meconium pseudocysts form in the presence of meconium peritonitis, which is defined as a sterile peritonitis caused by escape of meconium from the intestinal tract into the general peritoneal cavity during the fetal or perinatal period. When the extruded meconium becomes walled off, it can form a rim-calcified mass representing the meconium pseudocyst.


Decreased proportion of memory B cells

description: A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).


name: Elevated circulating vitamin B12 concentration

description: Concentration of vitamin B12 in the blood circulation above the upper limit of normal.


name: Abnormal CSF homocarnosine concentration

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


complement component 4b deficiency

description: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4B gene.


Abnormal Eustachian tube morphology

description: A structural anomaly of the Eustachian tube (ET). The ET is a biomechanical valve between the nasopharynx and the middle ear. Physiologically, it controls the passive adaptation of the middle ear air pressure to the ambient air pressure primarily via direct muscular actions of the soft palate. In the closed state it protects the middle ear. Inadequate function of the ET causes middle ear ventilation disorders.


Abnormal CSF neopterin concentration

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


Third heart sound

description: The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients.


Acute aspiration pneumonia

description: An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.


Angiokeratoma circumscriptum naeviforme

description: A type of angiokeratoma that typically presents in childhood as a large, mostly linear and unilateral hyperkeratotic plaque which is composed of confluent keratotic papules. The size ranges from a few centimeters up to a major part of the body surface. Initially the lesions present asa multile reddish macules, clinically similar to a nevus flammeus. Within several years they develop into acanthokeratotic papules that agrregate into plaques which may have a hyperkeratotic surface.


Chronic (near) absent circulating IgG1

description: A lasting absence of immunoglobulin G1 (IgG1) in the blood, whereby at most trace quantities of IgG1 can be measured.


name: Abnormal circulating 7-dehydrocholesterol concentration

description: Concentration of 7-dehydrocholesterol in the blood circulation outside the limits of normal.


Polyembolokoilamania

description: Habitual insertion of foreign bodies into bodily orifices.


Kidney teratoma

description: A teratoma located in a kidney.


Umbilical vein varix

description: Focal dilation of the umbilical vein.


Midline defect of the nose

description: This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip.


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


Abnormal facial vein morphology

description: An abnormality of a facial vein.


Absent scaphoid

description: Congenital absence of the scaphoid..


Absent second fingernail

description: Absence of the fingernail of the index (second) finger.


Severe periodontitis

description: A severe form of periodontitis.


Enlarged sylvian cistern

description: An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure).


name: Complete duplication of the proximal phalanx of the 2nd finger

description: Complete duplication of the second proximal phalanx of hand.


name: Abnormal circulating transferrin concentration

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


name: Bullet-shaped phalanges of the 4th finger

description: A fourth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


name: continuous spikes and waves during sleep

description: Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development.


Pulsatile tinnitus

description: Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation.


name: Abnormal circulating androstenedione concentration

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


name: Abnormal arcuate vein intima/media morphology

description: Any structural anomaly located in the inner or middle layer of the arcuate veins of the kidney.


name: Symphalangism of middle phalanx of 4th finger

description: Fusion of the middle phalanx of the 4th finger with another bone.


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

description: Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected.


Elevated umbilical artery pulsatility

description: Human umbilical artery (UA) blood flow pulsatility measured by Doppler ultrasound is a widely used biomarker for the detection of elevated placental vascular resistance. Elevated UA pulsatility, which in the most extreme cases manifests as absent or even reversed end-diastolic velocity, is associated with intrauterine growth restriction (IUGR) and still-birth.


Decreased T cell activation

description: Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.


Crazy paving pattern

description: The so-called crazy paving pattern appears as thickened interlobular septa and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. The crazy-paving pattern is often sharply demarcated from more normal lung and may have a geographic outline. It was originally reported in patients with alveolar proteinosis and is also encountered in other diffuse lung diseases that affect both the interstitial and airspace compartments, such as lipoid pneumonia.


Bipartite calcaneus

description: A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification.


Interhemispheric cyst

description: Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system.


Patellar overgrowth

description: Excessive growth of the kneecap (patella).


Abnormal coagulation factor V activity

description: Any deviation from the activity of coagulation factor V.


Intestinal inflammation

description: A reaction characterizeds by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling localized to the in the intestinal tract.


Dermal sinus tract

description: A dermal sinus tract is an abnormality present at birth over the dorsal midline where an abnormal epithelialized connection from the skin tracks inwards towards the spine, most commonly seen in the lumbosacral region.


Elevated urine acetoacetic acid level

description: Elevated amount of acetoacetic acid in the urine.


Paradoxical embolism

description: Paradoxical embolism describes the passage of a venous or right-sided cardiac thrombus into the arterial or systemic circulation.


name: Aplasia of the proximal phalanges of the hand


Anti-PM-Scl100 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl100.


Aplasia of the tarsal bones

description: Absence of the tarsal bones.


3-5 toe syndactyly

description: Syndactyly with fusion of toes three to five.


name: Small epiphysis of the proximal phalanx of the thumb

description: Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms.


odontoma

description: A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. According to the presence or absence of tooth-like structures, it is classified as complex type or compound type. Odontoma of complex type is characterized by the presence of enamel and dentin and the absence of tooth-like structures. It is treated with local excision. If it is incompletely removed, it may recur. Odontoma of compound type is characterized by the presence of tooth-like structures. It is treated by local excision. Recurrences have not been reported.


Dimple on nasal tip

description: An abnormal indentation of the skin in the region of the nasal tip.


name: Decreased circulating beta-C-terminal telopeptide concentration

description: A reduction from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation.


Osteoporotic tarsals

description: Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.


name: Abnormal interlobular vein intima/media morphology

description: Any structural anomaly of the inner or middle layer of the interlobular veins of the kidney.


Paraspinal 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 adjacent to the spine, i.e., in a location that is normally occupied by muscles, ligaments, nerves, and other tissues that run alongside the spinal column.


Anti-vinculin antibody positivity

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


name: Hypersegmentation of proximal phalanx of third finger

description: Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger.


Burning mouth

description: An intense sensation of burning, scalding, or tingling feeling of the tongue or other regions of the oral mucosa.


Linear nevus sebaceous

description: A type of nevus sebaceous with a linear form, raised borders and yellowish color.


ossifying fibroma

description: A well circumscribed lesion of the bone, most frequently arising from the posterior mandible. It is characterized by the presence of fibrous tissue and a mineralized component which may be woven bone, lamellar bone, or cementum-like material. Complete removal is recommended, since it continues to enlarge if left untreated.


Abnormal large intestine physiology

description: A functional anomaly of the large intestine.


name: Decreased glucose-6-phosphate dehydrogenase level in tissue

description: A decrease in the level of glucose-6-phosphate dehydrogenase in tissue.


name: Aplasia involving bones of the extremities


description: A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids.


Hypocalcification of dental enamel

description: A form of hypomineralization of enamel characterized by reduced calcification.


name: Anti-carbonic anhydrase II antibody positivity

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


Pectoralis amyotrophy

description: Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor.


alexia

description: A receptive visual aphasia characterized by the loss of a previously possessed ability to comprehend the meaning or significance of handwritten words, despite intact vision. This condition may be associated with posterior cerebral artery infarction (infarction, posterior cerebral artery) and other brain diseases.


name: Elevated circulating acylcarnitine concentration

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


Stratum basale cleavage

description: Cleavage within the epidermal keratinocytes, which is the innermost layer of the epidermis and consists of proliferating cells that give rise to the outer layers of the epidermis.


name: Small intestinal intraepithelial lymphocytosis

description: The count of lymphocytes located in the epithelial layer of the mucosa of the small intestine is above the upper limit of normal.


Small epiphyses of the metacarpals

description: Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms.


Focal cortical dysplasia type IIIb

description: A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) and/or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to glial or glioneuronal tumor.


Encephalocele

description: A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.


name: Fragmentation of the epiphysis of the distal phalanx of the thumb

description: Epiphysis of the distal phalanx of the thumb having multiple bony fragments.


Prominent crus of helix

description: The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix.


Oligodontia of primary teeth

description: Reduced number of primary teeth.


name: Bracket epiphyses of the middle phalanges of the hand

description: An abnormality of the middle phalanges of the hand 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.


Absent aortic valve cusps

description: A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva.


name: Abnormal small intestinal villus morphology


Calcaneonavicular fusion

description: Synostosis of the calcaneus with the navicular bone.


Slender humerus

description: Reduction in diameter of the humerus.


Abnormality of the upper limb

description: An abnormality of the arm.


Abnormal inferior vena cava morphology

description: Any structural anomaly of the principal vein draining blood from the lower portion of the body.


Mucosal telangiectasiae

description: Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs.


name: Abnormality of the musculature of the limbs


Reduced CSF asparagine concentration

description: The concentration of asparagine in the cerebrospinal fluid (CSF) is below the lower limit of normal.


name: Elevated circulating octenoylcarnitine concentration

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


Bilateral vocal cord paresis

description: Decreased strength of the vocal fold on both sides.


Small fetal abdominal circumference

description: The distance around the abdomen of a fetus, generally as measured by prenatal sonography, is below the lower limit of normal.


Narrow nasal septum

description: Abnormally narrow nasal septum.


Globus pallidus calcification

description: Pathological deposition of calcium salts in the globus pallidus.


name: Synostosis involving bones of the upper limbs

description: An abnormal union between bones or parts of bones of the upper limbs.


name: Stippled calcification of the humeral epiphyses


Chronic axonal neuropathy

description: An abnormality characterized by chronic impairment of the normal functioning of the axons.


Spinal neurofibroma

description: A neurofibroma (benign peripheral nerve sheath tumor) localized in the spine.


Cerebral artery calcification

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


Calcification of falx cerebri

description: The presence of calcium deposition in the falx cerebri.


Stippled calcification in carpal bones

description: Point-shaped (punctate) calcifications affecting the carpal bones.


primary aldosteronism

description: An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache.


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

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


Decreased alveolar volume

description: An abnormal reduction in alveolar volume.


name: Fractured distal phalanx of manual digit 2

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


EEG with generalized polyspikes

description: EEG with repetitive generalized sharp transient waves of a duration less than 80 msec.


name: Elevated urinary 2-methyl-3-hydroxybutyric acid level

description: The amount of 2-methyl-3-hydroxybutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Abnormal circulating creatine concentration

description: A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells.


name: Renal arteriole intima/media amyloidosis

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


Perinephric fluid collection

description: An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography.


Aplasia/Hypoplasia of the ear

description: The presence of aplasia or developmental hypoplasia of the ear.


Labiomental fasciculations

description: Fasciculations affecting the tongue muscle and the musculature of the chin.


name: Short chordae tendineae of the tricuspid valve

description: Abnormally short chordae tendineae of the tricuspid valve.


name: Elevated circulating homoarginine concentration

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


name: Anti-citrullinated protein antibody positivity

description: The presence autoantibodies in the serum that react do different citrullinated antigens, including filaggrin, fibrinogen, vimentin and collagen.


name: Glomerular endocapillary foam-cell hypercellularity

description: Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space.


Toe syndactyly

description: Webbing or fusion of the toes, 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 toes in a proximo-distal axis are referred to as "Symphalangism".


Axial muscle weakness

description: Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs).


Abnormality of ophthalmic artery

description: Abnormality of the first branch of the internal carotid artery.


Rectal atresia

description: A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum.


name: Short metacarpals with rounded proximal ends


Limited knee extension

description: Reduced ability to extend (straighten) the knee joint.


name: Increased circulating myristoleate level

description: An abnormally high concentration of myristoleate in the blood circulation.


Diastema

description: Increased space between two adjacent teeth in the same dental arch.


name: Segmental glomerulosclerosis away from the vascular and tubular poles

description: Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neirhter the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed.


name: Cortical radial artery foam cell hypercellularity

description: A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often macrophages, with a vacuolated appearance in the lumen of cortical radial artery (also known as the interlobular artery) of the kidney.


name: Elevated urinary N-carbamoyl-beta-alanine level

description: The amount of N-carbamoyl-beta-alanine present in urine, when adjusted for urine concentration, is above the upper limit of normal.


Hepatic arteriovenous malformation

description: A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures in the liver.


name: Juvenile type ovarian granulosa cell tumor

description: Juvenile granulosa cell ovarian tumor (JGCOT) is a rare sex cord stromal tumor, occuring most frequently in premenarchal girls or young women. In contrast to adult granulosa cell tumor, JGCOT has a high mitotic index and more aggressive tumor growth. Microscopically it is seen as diffuse and regularly distributed neoplastic cells with a wide cytoplasm and pleomorphic hyperchromatic nucleus. Follicle formation, in various sizes and shapes, is important in JGCOT. Call-Exner bodies are infrequently seen in JGCOT in contrast to the adult type.


Medially deviated second toe

description: Medial deviation of the second toe.


Sparse facial hair

description: Reduced number or density of facial hair.


multiple epiphyseal dysplasia

description: Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6.


Abnormal urine hormone level

description: An abnormal concentration of a hormone in the urine.


Pineal cyst

description: A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland.


Chronic CSF lymphocytosis

description: Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter.


Common carotid artery aneurysm

description: An abnormal widening (dilatation) of the common carotid artery.


Pneumobilia

description: Accumulation of gas in the biliary tree.


Fractured ilium

description: A partial or complete breakage of the ilium.


Abnormality of the middle ear ossicles

description: An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).


Abnormal infraorbital artery morphology

description: An abnormality of an infraorbital artery.


Anti-contactin-1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CNTN1.


Tuberous xanthoma

description: A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes.


Focal pedal automatism seizure

description: A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.


Abnormal emotion

description: Abnormalities in the intensity, frequency, or duration of emotional experiences.


name: Elevated circulating tetradecenoylcarnitine concentration

description: The concentration of tetradecenoylcarnitine (C14:1) in the blood circulation is above the upper limit of normal.


name: Cortical subperiosteal resorption of humeral metaphyses


name: Swollen achromatic neurons in the cerebral cortex

description: The presence of enlarged and swollen neurons that lack Nissl bodies (the rough endoplasmic reticulum-achromasia refers to neurons that lack Nissl bodies) in the cortex of the brain.


Abnormal synovial bursa morphology

description: A structural anomaly of a synovial bursa.


Chaddock reflex

description: A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract.


generalized lipodystrophy

description: Almost complete absence of subcutaneous and/or visceral adipose tissue.


name: polymicrogyria, bilateral perisylvian, X-linked

description: A type of perisylvian polymicrogyria that affects both sides of the brain.


Cellular urinary casts

description: A type of urinary cast composed of cells incorporated in a protein matrix. The cells can be those found in the urinary sediment (erythrocytes, leuklocytes, renal tubular epithelial cells).


Abnormal heart valve physiology

description: Any functional abnormality of a cardiac valve.


description: Abnormality of the twelfth cranial nerve.


name: Vascular granular osmiophilic material deposition

description: Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide. Deposition of granular osmiophilic material (GOM) is the vascular pathological hallmark of CADASIL, which is the most prevalent hereditary small vessel disease and is caused by missense mutations in the NOTCH3 gene. GOM have been shown to contain NOTCH3 ectodomain (NOTCH3ECD) and extracellular matrix proteins, and can be visualized ultrastructurally in the tunica media of small arteries and capillaries. These electron dense GOM deposits are located in the basement membrane of mural cells, i.e. vascular smooth muscle cells and pericytes. In both manifest and pre-manifest CADASIL patients, GOM deposits are present not only in brain vessels, but also in vessels of other organs, such as the skin.


twin to twin transfusion syndrome

description: Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated


name: Congenital sensorineural hearing impairment

description: A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.


trigonocephaly 1

description: Any isolated trigonocephaly in which the cause of the disease is a mutation in the FGFR1 gene.


name: Decreased circulating apolipoprotein concentration

description: Reduced concentration in the blood circulation of a lipid-transport protein (apoliprotein).


name: Facial palsy secondary to cranial hyperostosis

description: Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve.


Abnormal hand bone ossification

description: An abnormality of the formation and mineralization of any bone of the skeleton of hand.


name: Increased hepatitis A virus antibody level

description: An abnormally increased level of immunoglobulin against hepatitis A virus in the blood.


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


Continuous heart murmur

description: A murmur that occurs in both systole and diastole.


Elevated circulating CHI3L1 level

description: Increased concentration of chitinase 3-like 1 (CHI3L1) in the blood circulation.


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


renal agenesis, unilateral

description: Unilateral renal agenesis (URA) is a form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter.


Symptomatic seizures

description: A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed.


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

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


name: Diminishment of interpersonal communication

description: A reduction in the tendency of a person to share information or emotions compared to that person's previous norms.


Pansynostosis

description: Craniosynostosis of all calvarial sutures.


Synkinesis

description: Unintentional movement in one area of the body produced during intentional movement of another area of the body.


Thickened skin

description: Laminar thickening of skin.


Diaphyseal sclerosis

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


name: Aplasia/Hypoplasia of the fifth metatarsal bone


Pulmonary opacity

description: Opacity refers to any area that preferentially attenuates the x-ray beam and therefore appears more opaque than the surrounding area. It is a nonspecific term that does not indicate the size or pathologic nature of the abnormality.


Abnormal natural killer cell morphology

description: An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells.


name: Elevated circulating 27-hydroxycholesterol concentration

description: The concentration of 27-hydroxycholesterol in the blood circulation is above the upper limit of normal.


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

description: Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger.


Hypoplastic pubic bone

description: Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone.


Complete cleft of the upper lip

description: Cleft of the upper lip that starts from the bottom of the upper lip and reaches the nasal cavity.


name: Thyrotoxicosis from ectopic thyroid tissue


Perineal hemangioma

description: Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals.


Acute respiratory acidosis

description: Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35).


name: Extra-axial cerebrospinal fluid accumulation

description: An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space.


name: Fractured middle phalanx of pedal digit 3

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


Villous hypertrophy of choroid plexus

description: Overgrowth of the choroid plexus.


Metaphyseal cupping of metacarpals

description: Metaphyseal cupping affecting the metacarpal bones.


Square pelvis bone

description: An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure.


Increased heart rate variability

description: Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.


Juvenile aseptic necrosis

description: Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers.


Abdominal aortic dissection

description: A tear in the intimal layer of the abdominal aorta causing a separation between the intima and the medial layers.


name: Small epiphysis of the distal phalanx of the 4th finger

description: Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms.


name: T cell chronic lymphocytic lymphoma/leukemia

description: A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent.


Pulsatile liver

description: Cardiac synchronous pulsation on palpation.


Retropharyngeal hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the retropharyngeal space, the portion of the peripharyngeal space that is located posterior to the pharynx.


name: Elevated serum transaminases during infections

description: Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections.


Abnormal oral cavity morphology

description: Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.


Reduced circulating fibronectin level

description: A reduction below the normal concentration of fibronectin the the blood circulation.


limited cutaneous systemic sclerosis

description: Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.


Abnormality of the spleen

description: An abnormality of the spleen.


Short proximal phalanx of the 3rd toe

description: Abnormal reduction in length of proximal phalanx of third toe.


Abnormality of the abdominal organs

description: An abnormality of the viscera of the abdomen.


Harlequin phenomenon

description: The Harlequin phenomenon consists of a sudden change in skin color, resulting in two different body colors, one on each half of the body.


Chin with H-shaped crease

description: H-shaped crease in the fat pad of the chin.


name: Bilateral superior vena cava with bridging vein


name: Abnormal morphology of musculature of pharynx

description: An abnormality of any of the muscles of the pharynx.


name: Osseous stenosis of the external auditory canal


Cardiomyocyte degeneration

description: Deterioration of cardiomyocyte characterized by abnormal features such as loss of myofilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris.


Mycobacterium bacteremia

description: Presence of viable mycobacteria in the blood.


name: Cortical radial artery medial hypertrophy

description: Increased thickness of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.


Semilobar holoprosencephaly

description: A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.


name: Early ossification of capital femoral epiphyses

description: Developmental acceleration of ossification of the proximal epiphysis of the femur.


Single second heart sound

description: The second sound can remain single throughout the respiratory cycle due to either absence of one component or to synchronous occurrence of the two components. Since the pulmonary vascular impedance increases with age, many normal patients over age 50 have a single S2 or at most a narrow physiologic split on inspiration because P2 occurs early. A single second sound, however, is usually due to inability to auscultate a relatively soft pulmonic component. Such inability is rare in healthy infants, children, and young adults and is uncommon even in older persons under good auscultatory conditions using a rigid stethoscopic diaphragm.


blue nevus

description: An intradermal nevus characterized by the presence of benign pigmented dendritic spindle-shaped melanocytes. It most frequently occurs in the skin of the distal upper extremities, followed by the lower extremities, scalp, face, and buttocks. It usually presents as a single blue or blue-black papular lesion less than 1cm in diameter. Simple excision is usually curative.


Breast intraductal papilloma

description: Intraductal papilloma is a benign tumor found within breast ducts. The abnormal proliferation of ductal epithelial cells causes growth. A solitary intraductal papilloma is usually found centrally posterior to the nipple affecting the central duct. Multiple intraductal papillomas are located peripherally, found in any breast quadrant affecting the peripheral ducts.


Abnormal skull base morphology

description: An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components.


name: Elevated CSF alpha-ketoglutarate concentration

description: The concentration of alpha-ketoglutarate in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Proximal tibial and fibular fusion

description: A developmental defect characterized by the abnormal fusion of the proximal tibia and fibula.


Aplasia of the middle ear ossicles

description: Absence of the middle ear ossicles, malleus, incus, and stapes.


xanthomatosis

description: A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells.


Abnormal thymus morphology

description: Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation.


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


2:1 atrioventricular block

description: A type of second-degree atrioventricular block in which every other P wave is not conducted through the AV node such that only every other P wave is followed by a QRS complex.


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


name: Complete duplication of the distal phalanges of the hand

description: A complete duplication affecting one or more of the distal phalanges of the hand.


Abnormal bronchus morphology

description: Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs.


name: Abnormal CD69 upregulation upon TCR activation

description: Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus.


Vaginal adenosis

description: Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life.


name: Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against the tyrosine phossphatase region of islet antigen 2A (this region is a specific part of IA-2). Usually IA-2A are measured using the intracellular portion of IA-2 (IA-2ic) made up of the protein tyrosine phosphatase (PTP) and juxtamembrane (JM) regions.


C4 nephritic factor positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that recognize C4b2a, the C3 convertase of the classical pathway of complement.


hereditary gingival fibromatosis

description: Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.


Abnormal growth hormone level

description: Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful.


Parenchymal consolidation

description: Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia).


combined immunodeficiency

description: A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern.


Abnormal vomer morphology

description: An abnormality of the vomer.


Hypertaurinemia

description: An increased amount of taurine in the blood.


Subungual hyperkeratosis

description: A thickening of the stratum corneum in the region beneath the nails.


Eunuchoid habitus

description: A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more).


L-shaped kidney

description: A type of cross fused renal ectopia in which the crossed kidney lies inferiorly and transversely, fused with the lower pole of the normal kidney.


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


Polyclonal elevation of circulating IgE

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


name: Multifocal hypointensity of cerebral white matter on MRI


name: Complete duplication of the proximal phalanges of the hand

description: A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.


Abnormal social behavior

description: An abnormality of actions or reactions of a person taking place during interactions with others.


Renal tubular epithelial cell apoptosis

description: Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris.


Decreased serum zinc

description: A reduced concentration of zinc in the blood.


Abnormality of the plantar skin of foot

description: An abnormality of the plantar part of foot, that is of the soles of the feet.


name: Contracture of the proximal interphalangeal joint of the 2nd finger

description: Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue.


Upper limb metaphyseal widening

description: Increased width (breadth) of metaphyses of the arms.


Poor suck

description: An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.


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

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


name: Incomplete ossification of palatine bone

description: Failure to complete ossification (maturation and calcification) of the palatine bone.


name: Abnormality of the medullary cavity of the long bones

description: An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored.


name: Partial duplication of the middle phalanx of the 4th toe

description: Partial duplication of middle phalanx of fourth toe.


name: Delayed self-feeding during toddler years

description: A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age).


Increased fetal long bone echogenicity

description: An abnormally elevated echogenicity of fetal long bones in a prenatal sonographic investigation. This finding is due to hypermineralization.


name: congenital unilateral hypoplasia of depressor anguli oris

description: Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood).


name: Neonatal wrinkled skin of hands and feet


Abdominal aortic calcification

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


name: Focal impaired awareness non-motor seizure

description: A focal non-motor seizure characterized by impaired awareness at some point during the seizure.


Recurrent viral skin infections

description: Increased susceptibility to viral skin infections, as manifested by recurrent episodes of viral skin infections.


Abnormal inner ear morphology

description: A structural anomaly of the internal part of the ear.


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


Abnormal U wave

description: An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3.


Appendicular spasticity

description: A type of spasticity that affects one or more limbs (arms or legs).


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


Broad radial epiphyseal plate

description: Abnormal increase in width of the epiphyseal growth plate of the radius.


Long-segment aganglionic megacolon

description: A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid.


Notched T wave

description: A bifid T-wave with a notch duration between the 2 peaks at leasy 0.04 sec and an amplitude at least 0.05 mV.


Perisylvian polymicrogyria

description: Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly.


name: Increased circulating nicotinurate level

description: An increased amount of nicotinurate in the blood.


name: Fatigable weakness of respiratory muscles

description: A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.


Short phalanx of hallux

description: Underdevelopment (hypoplasia) of a phalanx of big toe.


Pulmonary arteriovenous fistulas

description: A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed.


Dysgenesis of the hippocampus

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


name: Aplasia/Hypoplasia of the distal phalanx of the 3rd toe


Abnormal maxilla morphology

description: An abnormality of the Maxilla (upper jaw bone).


Erythrodontia

description: Reddish, brown opalescent discoloration of teeth in normal light.


Fetal extra-axial hemorrhage

description: A type of fetal intracranial hemorrhage with bleeding that occurs within the skull but outside of the brain tissue itself (into the epidural, subdural, or arachnoid space).


Dissociated sensory loss

description: A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa.


name: Decreased proportion of naive CD4 T cells

description: An abnormally reduced proportion of naive CD4 T cells relative to the total number of T cells.


Atrophic scars

description: Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.


Potter sequence

description: A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure.


partial motor epilepsy

description: A simple partial seizure consisting of clonus or spasm of a muscle or muscle group; it may be single or in a continuous and repetitive series or may spread to adjacent muscles.


Cerebral venous angioma

description: A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system.


Decreased circulating total IgG

description: A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.


Acromelia of the lower limbs

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


Coarse metaphyseal trabecularization

description: Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms.


Anti-GM2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM2.


Broad neck

description: Increased side-to-side width of the neck.


Aerophagia

description: Repetitive air swallowing and belching and that may result in abdominal distention.


Cortical sclerosis of the iliac wing

description: Increased density related to increased bone mass in the outermost layer (edge) of the iliac wing.


Eosinophilic dermal infiltration

description: Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils.


Excessive cleaning

description: Excessive cleaning of surfaces, living space, or environment that is excessive for the situational context.


Abnormal sternal ossification

description: Any anomaly in the formation of the bony substance of the sternum.


Curved 1st metacarpal

description: A deviation from the normal straight shape of the first metacarpal.


Abnormal midface morphology

description: An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface.


Duplication of the 1st metacarpal

description: Partail or complete duplication of the first metacarpal bone.


name: Symphalangism affecting the proximal phalanx of the 5th finger

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


name: Abnormal CD4+CD25+ regulatory T cell proportion

description: A deviation from the normal proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.


name: Abnormal mandible condylar process morphology

description: An abnormality of a mandible condylar process.


Ectopic parathyroid

description: An abnormal anatomical location of the parathyroid gland.


Radial artery aplasia

description: Congenital absence of the radial artery.


Beaked nails

description: Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit.


polydactyly, postaxial, type A1

description: A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.


name: Abnormal medullary peritubular capillary lumen morphology

description: Abnormal structural characteristics of the interior space of the peritubular capillary in the medulla of the kidney.


Bowed humerus

description: A bending or abnormal curvature of the humerus.


midline cervical cleft

description: Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia.


idiopathic anaphylaxis

description: Idiopathic anaphylaxis is a rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment.


name: Triangular epiphysis of the distal phalanx of the thumb

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


Female fetal virilization

description: Fetal masculinization of female external genitalia.


Carotid sinus syncope

description: An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion.


name: Decreased circulating catecholamine concentration

description: Concentration of a catecholamine in the blood circulation below the lower limit of normal.


Disseminated cryptosporidium infection

description: Failure to contain infection by a protozoan of the genus Cryptosporidium, leading to spread to many parts of the body.


Acute infectious pneumonia

description: Acute inflammation of the lung due to an infection.


Adenocarcinoma of the intestines

description: A malignant epithelial tumor with a glandular organization that originates in the intestines.


Elevated CSF DOPA concentration

description: Concentration of DOPA (3,4-dihydroxyphenylalanine) in the cerebrospinal fluid above the upper limit of normal.


Horizontal inferior border of scapula

description: A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape).


Abnormality of the head

description: An abnormality of the head.


Tooth avulsion

description: A type of dental trauma characterized by total dislocation of the tooth from its socket.


Mild postnatal growth retardation

description: A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms.


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

description: A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells.


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

description: Partial or complete duplication of the middle phalanx of the 5th toe.


Honeycomb palmoplantar hyperkeratosis

description: Abnormal thickening of the skin on the palms and soles with an honeycomb pattern.


Short 1st metacarpal

description: A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.


Fractured larynx

description: A partial or complete breakage of the larynx.


Dysgyria with thickened cortex

description: An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation and a thickened cortex intermediate between pachygyria and polymicrogyria.


Anti-ITPR1 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against inositol 1,4,5-trisphosphate receptor 1 (ITPR1).


name: Interphalangeal joint contracture of finger

description: Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue.


Focal cortical dysplasia type Ic

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


Gottron's papules

description: Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints.


endomyocardial fibrosis

description: A disease characterized by fibrotic thickening of the endocardium, particularly the right and/or left inflow tracts. The disease often involves the atrioventricular valves, leading to valvular regurgitaion. It most commonly occurs in children living within 15 degrees of the equator.


Neurogenic claudication

description: Lumbar spinal stenoses may induce symptoms following an individually typical latency on standing or when walking due to swelling of the cauda equina, which leads to compression. This is referred to as neurogenic claudication. The symptoms of lumbar spinal stenosis can be explained by an increase in lumbar lordosis and spinal canal stenosis in an upright position compared to the sitting position or if spondylolisthesis is present by a shift of the vertebrae while standing and walking. Following an individually characteristic distance, walking becomes associated with deep muscular pain and with neurological deficits, such as sensory deficits and paresis in the lower limbs, which resolve within minutes when the affected person sits or lies down. Activities performed in a flexed posture, such as cycling often cause less problems than walking. For the same reason, walking uphill may be tolerated better than walking downhill. Clinical neurological examination at rest may be entirely normal but there is usually pain on hyperextension of the lumbar spine.


Hypsarrhythmia

description: Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).


name: Lower extremity peripheral 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 leg.


name: Abnormal lower limb epiphysis morphology

description: An anomaly of one or more epiphyses of one or both legs.


chronic rhinitis

description: Chronic inflammation of the nasal cavity mucosa. It may lead to post-nasal drip resulting in chronic sore throat and chronic cough.


Absent hippocampal commissure

description: Absence of the fibers that connect the contralateral hippocampi via the crura of the fornix and run beneath the posterior portion of the corpus callosum.


IgG4 autoimmune antibody positivity

description: The presence of an antibody of subclass IgG4 in the blood circulation that is directed against the organism's own cells or tissues.


name: Increased circulating androgen concentration

description: An elevation of 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.


name: Cortical peritubular capillary lumen cholesterol emboli

description: Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the cortex 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.


name: Foam cells with lamellar inclusion bodies

description: The presence of foam cells that contain lamellar inclusion bodies.


Carotid paraganglioma

description: A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery.


Iliac 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 iliac artery.


Right ventricular regional akinesia

description: A region of the right ventricle exhibits absent contraction (akinesia) compared to the rest of the ventricle.


name: Decreased post-bronchodilator forced vital capacity

description: An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed after the administration of a bronchodilating medication.


Abnormal nasal skeleton morphology

description: An abnormality of the nasal skeleton.


name: Renal arteriole intima/media crystal accumulation

description: Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arterioles of the kidney.


Lateral ventricular asymmetry

description: Abnormal difference in size between the left and right lateral cerebral ventricles.


Functional intestinal obstruction

description: The blockage of bowel contents from evacuation; the causes are attributable to non-structural impediments, such as chemical imbalances or the side effects of medications, narcotics in particular.


Persistent head lag

description: The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes.


Hypoplasia of the corpus callosum

description: Underdevelopment of the corpus callosum.


Absent epiphyses of the 5th finger

description: Absence of one or more epiphyses of the 5th finger.


Posterior cerebral artery stenosis

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


name: Proximal phalangeal periosteal thickening


name: Focal impaired awareness epileptic spasm

description: A type of focal-onset epileptic spasm in which awareness is impaired at some point during the seizure.


solar urticaria

description: Solar urticaria (SU) is a rare and difficult to treat photosensitive disease, in which local skin swelling occurs within minutes of exposure to natural sunlight or even artificial light sources emitting ultraviolet radiation.


name: Abnormal circulating 18-hydroxycorticosterone level

description: Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation.


Neck teratoma

description: A teratoma located in the neck.


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


Abnormal sacroiliac joint morphology

description: An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone).


name: Elevated circulating 17-hydroxyprogesterone concentration

description: An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase.


name: Slender long bones with narrow diaphyses

description: Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones.


Nasal mucosa vasculitis

description: Inflammation of blood vessels in the mucosa of the nasal cavity.


Exaggerated median tongue furrow

description: Increased depth of the median tongue furrow.


Unilateral radial aplasia

description: Missing radius bone on one side only associated with congenital failure of development.


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


Intratubular leukocyte casts

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


name: Impaired growth-hormone response to glucagon stimulation test

description: Failure of growth hormone levels to respond adequately (by increasing) to the glucagon stimulation test.


Arcuate vein lumen cholesterol emboli

description: Needle-like or slit-like clefts within the interior space of arcuate veins 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.


Proportionate short stature

description: A kind of short stature in which different regions of the body are shortened to a comparable extent.


Decreased total iron binding capacity

description: A reduction in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity.


Abnormal abdomen morphology

description: A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.


Dilated vestibule of the inner ear

description: Dilatation of the vestibule of the inner ear.


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


2-3-layered lissencephaly

description: Pachygyria-agyria spectrum whereby at neuropathological examination the cortical plate consists of a two-three layered organization made up of a molecular layer, a relatively thin wavy layer with a higher cellular density and a third layer with lower cellularity.


Arterial dissection

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


name: Abnormally loud pulmonic component of the second heart sound


name: Prelingual sensorineural hearing impairment

description: A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.


Abnormality of the maxillary sinus

description: An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity.


Aplasia/Hypoplasia of the hallux

description: Absence or underdevelopment of the big toe.