paraganglioma

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


Neuropathic spinal arthropathy

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

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


Pulmonary artery intimal thickening

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


lymphadenitis

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

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


Anti-GABA(B)R antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid B receptor, i.e., GABA(B)R.


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

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


renal aminoaciduria

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


infiltrating lipoma

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


erythema nodosum

description: A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter.


atrioventricular dissociation

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


brachydactyly type E1

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


Pulmonary artery stenosis

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


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

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


Nevus spilus

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


name: Type 2 congenital pulmonary airway malformation

description: A type of congenital pulmonary airway malformation that is characterized by multiple evenly spaced cysts (sponge-like appearance).


Abnormal pelvic girdle bone morphology

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


name: Anti-SUMO-activating enzyme subunit 2 antibody positivity

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


allergic rhinitis

description: Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life.


Rhabdoid tumor of the ovary

description: A highly aggressive, extremely rare neoplasm of the ovary that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers.


name: Focal impaired awareness emotional seizure

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


Coronary sinus enlargement

description: Abnormal increase in size of the coronary sinus.


Renal amyloidosis

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


Kyphosis

description: Exaggerated anterior convexity of the thoracic vertebral column.


Menorrhagia

description: Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.


name: hearing loss, mixed conductive-sensorineural

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


Decreased circulating cortisol level

description: Abnormally reduced concentration of cortisol in the blood.


cerebral amyloid angiopathy

description: Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia.


cerebrospinal fluid rhinorrhea

description: Discharge of cerebrospinal fluid through the nose. Common etiologies include trauma, neoplasms, and prior surgery, although the condition may occur spontaneously. (Otolaryngol Head Neck Surg 1997 Apr;116(4):442-9)


Neonatal bilateral clonic seizure

description: Neonatal bilateral clonic seizure is a type of neonatal electro-clinical clonic seizure where the clonic jerking is bilateral.


tonsillitis

description: Inflammation of the tonsillar tissue.


ovarian neoplasm

description: A benign, borderline, or malignant neoplasm involving the ovary.


Atrial cardiomyopathy

description: Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations.


mongolian spot

description: A benign, flat, congenital birthmark, with wavy borders and an irregular shape. The color is caused by melanocytes, melanin-containing cells, that are usually located in the surface of the skin (the epidermis), but are in the deeper region (the dermis) in the location of the spot.


circadian rhythm sleep disorder

description: A persistent or recurrent pattern of sleep disruption that is primarily due to an alteration of the circadian system or to a misalignment between the endogenous circadian rhythm and the sleep-wake schedule required by an individual's physical environment or social or professional schedule.(DSM IV)


3-4 finger cutaneous syndactyly

description: A soft tissue continuity in the A/P axis between fingers 3 and 4.


3-4 toe cutaneous syndactyly

description: A soft tissue continuity in the anteroposterior axis between the toes 3 and 4.


focal dystonia

description: A dystonia that is localized to a specific part of the body.


progressive muscular atrophy

description: A rare, milder form of amyotrophic lateral sclerosis. It is characterized by a slowly progressive clinical course. Signs and symptoms include muscle weakness, atrophy, and fasciculation.


nicotine dependence

description: Physical and psychological dependence on nicotine.


Schilder disease

description: Schilder's disease is a progressive demyelinating disorder of the central nervous system.


Warm reactive autoantibody positivity

description: Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C.


lingual-facial-buccal dyskinesia

description: Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.


nasal cavity polyp

description: A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection.


name: congenitally corrected transposition of the great arteries

description: Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations.


Nocturnal seizures

description: Seizures that occur while the affected individual is sleeping.


spermatogenic failure, Y-linked, 1

description: A decrease in the number of germ cells but all stages of sperm cell development are present.


Presacral ganglioneuroma

description: A gangioleneuroma originating from sympathetic ganglion cells in the abdomen.


Anti-desmoplakin II antibody positivity

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


name: Focal cognitive seizure with left-right confusion

description: A focal cognitive seizure characterized by left-right confusion as the initial semiological manifestation.


Muscular ventricular septal aneurysm

description: Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle).


Cognitive epileptic aura

description: A purely subjective manifestation of an epileptic seizure pertaining to altered cognition.


pulmonary valve stenosis

description: The pathologic narrowing of the orifice of the pulmonary valve. This lesion restricts blood outflow from the right ventricle to the pulmonary artery. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete.


carotid artery occlusion

description: A occlusion precerebral artery that involves the carotid artery segment.


nodular goiter

description: Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones.


name: Mucinous cystic neoplasm of the pancreas

description: Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma.


Aciduria

description: Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration.


Tracheal papilloma

description: A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the trachea.


Mania

description: A state of abnormally elevated or irritable mood, arousal, and/or energy levels.


Exudative pleural effusion

description: A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH.


follicular lymphoma

description: Follicular lymphoma is a form of non-Hodgkin lymphoma characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved.


balanitis

description: An infectious or non-infectious inflammatory process that affects the glans penis. Symptoms include redness and pain of the glans penis and foreskin and discharge.


name: Myoclonic status epilepticus without coma

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


Anti-sp100 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against sp100. Autoantibodies causing the MND pattern are directed against sp100, sp140, promyelocytic leukemia nuclear body proteins (PML) or ubiquitin-like modifier (SUMO) proteins, while in the punctate nuclear envelope pattern, the target antigens are gp210, nucleoporin-62 or laminin B receptor proteins.


name: congenital partial pulmonary venous return anomaly

description: Partial pulmonary venous return (PAPVR) is a form of congenital pulmonary venous return where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea.


name: Anti-carbonic anhydrase VI antibody positivity

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


description: Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner.


kidney cortex necrosis

description: Death of cells in the kidney cortex, a common final result of various renal injuries including hypoxia; ischemia; and drug toxicity.


isolated partial vaginal agenesis

description: Isolated partial vaginal agenesis is a rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal.


peritoneal mesothelioma

description: A benign or malignant mesothelial neoplasm that arises from the peritoneum.


pyridoxine deficiency anemia

description: Deficiency of vitamin B6. It is usually caused by alcoholism, malabsorption, or as a side effect of medications. Signs and symptoms include stomatitis, glossitis, dermatitis, peripheral neuropathy, irritability, seizures, and anemia.


name: Tetralogy of Fallot with atrioventricular canal defect


cardiomyopathy

description: A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive.


Aortic dissection

description: Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta.


Neurofibroma by anatomical location

description: Neurofibroma categorized according to the anatomical site of origin.


Demyelinating motor neuropathy

description: Demyelination of peripheral motor nerves.


thumb deformity

description: An abnormal structure of the first digit of the hand.


cardiac rhabdomyoma

description: A well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on tumor location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis.


name: Pulmonary situs ambiguus with bilateral morphologic left lungs

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


mixed neuronal-glial tumor

description: A group of central nervous system neoplasms with a variable amount of neuronal and, less consistently, glial differentiation. They occur at a low frequency and usually carry a favorable prognosis. Representative examples include dysplastic cerebellar gangliocytoma, desmoplastic infantile ganglioglioma, desmoplastic infantile astrocytoma, and dysembryoplastic neuroepithelial tumor. (Adapted from WHO)


hydroxyprolinemia

description: An increased concentration of hydroxyproline in the blood.


Startle-induced seizure

description: Startle-induced seizures are triggered by multiple and non-specific stimuli (auditory, somatosensory, and rarely visual) and are characterized by their sudden unexpected nature. Sudden noise rather than pure sound is the most effective acoustic stimulus.


Pleural thickening

description: An increase in the thickness of the pleura, generally related to scarring of the pleural tissue.


cerebral cortical dysplasia

description: Abnormalities in the development of the cerebral cortex. These include malformations arising from abnormal neuronal and glial cell proliferation or apoptosis (Group I); abnormal neuronal migration (Group ii); and abnormal establishment of cortical organization (Group iii). Many inborn metabolic brain disorders affecting cns formation are often associated with cortical malformations. They are common causes of epilepsy and developmental delay.


name: Chronic hepatitis due to cryptosporidium infection

description: Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue.


factor XIII, b subunit, deficiency of

description: Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.


Anti-GT1a antibody positivity

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


name: Primary peritoneal serous papillary adenocarcinoma

description: A serous papillary adenocarcinoma that arises from the lining of the peritoneum


Facial midline hemangioma

description: Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face.


lissencephaly due to LIS1 mutation

description: Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.


Motor seizure

description: A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.


Ectopic thyroid

description: Mislocalised thyroid gland.


alpha-heavy chain disease

description: Alpha-heavy chain disease (alpha-HCD) is a type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption.


name: Abnormal cellular composition of bronchoalveolar fluid

description: Deviation from the commonly in healthy people observe cellular distribution. Normal ranges are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5%.


Joubert syndrome

description: Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.


aorta coarctation

description: Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps.


Anti-laminin 332 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-332.


Pulmonary aterial intimal fibrosis

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


Membranous ventricular septal aneurysm

description: Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle).


tetra-amelia

description: Amelia of all four limbs.


ovarian disorder

description: A disease involving the ovary.


diffuse palmoplantar keratoderma

description: Palmoplantar keratoderma that diffusely involves most of the palm and sole and is caused by a genetic abnormality.


Chylothorax

description: Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity.


Recurrent infantile hypoglycemia

description: Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period.


generalized dystonia

description: A type of dystonia that affects all or most of the body.


name: Periventricular white matter hyperintensities

description: Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.


name: Neonatal seizure with bilateral symmetric automatism

description: Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body symmetrically.


Pelvic bone exostoses

description: A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage.


hyperbilirubinemia

description: A disease characterized by elevated level of the pigment bilirubin in the blood.


name: Focal impaired awareness perseverative automatism seizure

description: A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by inappropriate continuation of pre-seizure movement or behavior at onset.


name: Focal cognitive seizure with conduction dysphasia/aphasia

description: A focal cognitive seizure characterized by conduction dysphasia / aphasia as the initial semiological manifestation.


polyarticular arthritis

description: An arthritis affecting five or more separate joints.


rosacea

description: A chronic erythematous skin disorder that affects the face. It is characterized by the development of redness in the cheeks, nose, and/or forehead and telangiectasia. Sometimes, the erythematous changes may involve the eyelids.


name: Anti-isoleucyl tRNA-synthetase antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against isoleucyl tRNA-synthetase.


Pulmonary vein varix

description: Pulmonary vein varix (PVV), refers to a localized dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent.


Renal pelvic carcinoma

description: The presence of a carcinoma in the renal pelvis.


Valvular pulmonary stenosis

description: A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately at the level of the pulmonary valve.


skeletal muscle disorder

description: A disease involving the skeletal muscle tissue.


Renal vein thrombosis

description: The presence of a thrombus (blood clot) in the major renal veins or its tributaries, generally leading to passive congestion that develops causes the affected kidney to swell and become engorged, leading to degeneration of nephrons and causing symptoms of flank pain, hematuria, and decreased urine output.


leiomyosarcoma of the corpus uteri

description: An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells.


Dysarthria

description: Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.


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


third-degree atrioventricular block

description: A disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC)


Interface hepatitis

description: Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma.


Adrenal leiomyoma

description: Adrenal leiomyoma is a rare, benign solid tumor that develops from the smooth muscle of the adrenal vein and its tributaries


osteopoikilosis

description: A rare autosomal dominant inherited disorder characterized by the presence of small areas of increased density throughout the bones.


paraphimosis

description: A condition in which the foreskin of an uncircumcised male is retracted and cannot be pulled back over the glans penis. It results in painful swelling of the glans penis and, if is not corrected, may lead to gangrene.


ceruminoma

description: A benign epithelial neoplasm derived from ceruminous glands in the external auditory canal. It presents as a gray mass covered by skin. It is characterized by a proliferation of glands composed of cells with abundant eosinophilic and granular cytoplasm.


Vascular hamartoma

description: A benign focal growth composed of vascular tissue.


Valinemia

description: Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine.Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. Valinemia is caused by a deficiency of the enzymevaline transaminase, which is needed for the breakdown (metabolism) of valine in the body. It is inherited in an autosomal recessive manner, although the gene responsible for the condition is not yet known. Treatment includes adiet low in valine (introduced during early infancy) which usually improves symptoms and brings valine levels to normal.


Renal interstitial amyloid deposits

description: Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation.


adrenal gland cancer

description: A malignant neoplasm involving the adrenal gland


autism spectrum disorder

description: A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors.


Pulmonary arteriovenous malformation

description: Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins.


name: Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis

description: A double outlet right ventricle with a subaortic ventricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


hair follicle neoplasm

description: A benign or malignant neoplasm arising from the hair follicle.


vaginitis

description: A non-infectious or infectious inflammatory process affecting the vagina.


name: Focal impaired awareness sensory seizure with olfactory features

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


Oligoarthritis

description: A type of arthritis that affects up to four joints in the first six months of disease.


Pulmonary interstitial thickening

description: Pathological thickening of the pulmonary interstitium visualized radiographically and divided into interlobular and intralobular septal thickening.


name: cutis marmorata telangiectatica congenita

description: Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.


nevus comedonicus syndrome

description: A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood.


name: Abnormal alveolar type II pneumocyte morphology

description: Any structural abnormality of alveolar type 2 (ATII) cells.


Anti-MIT3 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against MIT3.


name: Abnormal left ventricular outflow tract morphology

description: An abnormality of the outflow tract of the left ventricle.


fibroblastic neoplasm

description: A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts.


name: Smooth septal thickening on pulmonary HRCT

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


Focal aware vocal automatism seizure

description: A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset and during which awareness is fully retained throughout.


Focal atonic seizure

description: A focal seizure characterized at onset by sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting more than 500 ms but less than 2 seconds. It may involve the head, trunk, jaw or limb musculature.


name: Anti-aminoacyl-tRNA synthetase antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a tRNA synthetase enzyme.


acheiria

description: The total absence of the hand, with no bony elements distal to the radius or ulna.


Generalized hirsutism

description: Abnormally increased hair growth over much of the entire body.


Focal emotional seizure with pleasure

description: Focal emotional seizure with pleasure is characterized by the presence of a positive emotional experience with pleasure, bliss, joy, enhanced personal well-being, heightened self-awareness or ecstasy.


prostatitis

description: An infectious or non-infectious inflammatory process affecting the prostate gland.


Abnormal lung lobation

description: A developmental defect in the formation of pulmonary lobes.


Graves disease

description: Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism).It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism andoccurs mostoften in women over age 20. However, the disorder may occur at any age and may affect males as well.Treatmentmayinclude radioiodine therapy, antithyroid drugs, and/or thyroid surgery.


cheilitis

description: An inflammatory process affecting the lip.


aprosencephaly

description: A very rare congenital brain defect in which the cerebral cortex, striatum, globus pallidus, thalamus, hypothalamus, and eyes are absent or rudimentary.


Abdominal symptom

description: A subjective manifestation of disease localized to the abdomen.


name: Focal impaired awareness emotional seizure with paranoia

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


tricuspid valve stenosis

description: Narrowing or stricture of the tricuspid orifice of the heart.


name: Double inlet atrioventricular connection

description: The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve.


atrophic glossitis

description: Glossy appearance of the entire tongue surface.


metabolic bone disorder

description: A group of disorders that affect the bones secondary to increased levels of minerals or deficient levels of minerals such as calcium, magnesium, phosphorus, and vitamin D. Representative examples are osteomalacia, osteoporosis, and Paget disease.


Anti-PKCgamma antibody

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


vulvodynia

description: Vulvodynia is a chronic pain syndrome that affects the vulvar area and occurs without an identifiable cause. Symptoms typically include a feeling of burning or irritation. For the diagnosis to be made symptoms must last at least 3 months.


hydronephrosis

description: Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria.


Single lineage myelodysplasia

description: Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic).


Infection-related seizure

description: Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever.


Super-refractory status epilepticus

description: Super-refractory status epilepticus is defined as refractory status epilepticus continuing for 24 h or more following initiation of anesthetic medications, including cases in which seizure control is attained after induction of anesthetic drugs but recurs on weaning the patient off the anesthetic agent.


name: Methicillin-resistant Staphylococcus aureus infection

description: Infection with staphylococcus aureus resistant to the antibiotic methicillin (MRSA). MRSA can infect any individual but is more common among hospitalized patients, and can also occur as an opportunistic infection.


name: Focal cognitive seizure with dyscalculia/acalculia

description: A focal cognitive seizure characterized by dyscalculia / acalculia as the initial semiological manifestation.


Malignant rhabdoid tumor of the bladder

description: A rhabdoid tumor (a rare aggressive malignancies in infants and young children with a poor prognosis) originating in the urinary bladder.


hypospadias

description: Hypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce.


Anti-centromere antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components.


aortic valve calcification

description: Calcification of the aortic valve


name: Infracardiac total anomalous pulmonary venous connection

description: Type 3 total anomalous pulmonary venous connection.


name: Right sided atrium to left ventricle and absent left sided atrioventricular connection


neural tube defect

description: A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida.


Anti-P/Q-type VGCC antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against P/Q-type voltage-gated calcium channels (VGCCs).


xanthinuria type I

description: A rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.


description: The presence of an antibody in the blood circulation that is directed against an antigen on the surface of erythrocytes (red-blood cells).


hydranencephaly

description: A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor.


Total colonic aganglionosis

description: A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon.


Dilatation of the ventricular cavity

description: A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole.


Malignant genitourinary tract tumor

description: The presence of a malignant neoplasm of the genital system.


Anti-laminin antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against a laminin. Laminins are major components of the basement membrane.


name: focal epithelial hyperplasia of the oral mucosa

description: The occurrence of multiple or unique whitish or normal in color small papules or nodules in oral cavity, especially on labial and buccal mucosa, lower lip and tongue, and less often on the upper lip, gingiva and palate.


benign muscle neoplasm

description: A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue.


penile agenesis

description: An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities.


neuralgia

description: A pain disorder characterize by pain in the distribution of a nerve or nerves


Anal mucosal leukoplakia

description: Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation.


otitis media

description: Inflammation of the anatomical structures of the middle ear, which is most often caused by an infectious process. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever.


name: Anti-cyclic citrullinated peptide antibody positivity

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


contact dermatitis

description: An inflammatory skin condition caused by direct contact between the skin and either an irritating substance or an allergen.


coxa vara

description: Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental.


Focal vocal automatism seizure

description: A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset.


narcolepsy 1

description: A rare disorder characterized by sudden and transient episodes of loss of muscle tone. It often follows an experience of intense emotions. It is seen in patients with narcolepsy.


Secondary amenorrhea

description: The cessation of menstruation for six months or more in a female that is not pregnant, breastfeeding or menopausal.


name: Elevated circulating o-phosphoserine concentration

description: An abnormally increased level of o-phosphoserine in the blood circulation. o-phosphoserine is a derivative of serine.


agammaglobulinemia

description: A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes.


name: Absent left sided atrioventricular connection

description: A defect where there is no connection between the left atrium and left ventricle.


name: Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole

description: An autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by retained awareness throughout the seizure.


cervical vertebrae, agenesis of

description: Agenesis of one or more vertebrae of the cervical vertebral column.


Abnormal pulmonary vein physiology

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


name: hypertrichosis cubiti-short stature syndrome

description: Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.


Intralobular septal thickening

description: Intralobular septal thickening is a computed tomography finding of increased width of the walls (septa) within a pulmonary lobule. Secondary pulmonary lobules represent a cluster of up to 30 acini 9 supplied by a common distal pulmonary artery and bronchiole. These clustered acini are bounded by interstitial fibrous septa (interlobular septa) which outline an irregular polyhedron of varying size between 1 and 2.5 cm. Interlobular septal thickening is seen on chest radiographs as thin linear opacities at right angles to and in contact with the lateral pleural surfaces near the lung bases. In contrast, intralobular septal thickening are visible as fine linear opacities in a lobule when the intralobular interstitial tissue is abnormally thickened. When numerous, they may appear as a fine reticular pattern.


hypotrichosis

description: A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body.


varicose disease

description: A vascular disease characterized by the presence of enlarged and tortuous veins.


name: Fibrofatty replacement of right ventricular myocardium

description: Replacement of the myocardium of the right ventricular free wall by fat and fibrous tissue.


name: CSF anti-NMDA receptor antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor.


name: Focal impaired awareness emotional seizure with fear/anxiety/panic

description: Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is partially or fully impaired at some point during the seizure.


name: Focal impaired awareness sensory seizure with cephalic sensation

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


Polyalveolar lobe

description: An elevation of the total count of alveoli as determined by microscopic point-counting of randomly taken lung sections, not secondary to abnormalities in number, size and structure of the airways. In polyaveolar lobe, the number of alveoli is generally increased three to fivefold.


Bell's palsy

description: Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur.


Macronodular adrenal hyperplasia

description: Adrenal hyperfunction associated with multiple bilateral adrenal nodules, usually more than one centimeter in diameter.


Repeated focal motor seizures

description: A type of focal motor status epilepticus characterized by repeated motor, typically clonic events repeatedly affecting the same segments of the body with spread of clonic movements through contiguous body parts unilaterally, and repeating over a sufficiently prolonged period to reach a diagnosis of status epilepticus.


name: Neonatal insulin-dependent diabetes mellitus


cervical cancer

description: A primary or metastatic malignant neoplasm involving the cervix.


Abnormal leukocyte morphology

description: An abnormality of leukocytes.


name: Focal impaired awareness pedal automatism seizure

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


Hypertensive crisis

description: A severe, acute increase in blood pressure that may result in stroke or myocardial ischemia.


name: myeloproliferative disorder, chronic, with eosinophilia


Abnormal coronary sinus morphology

description: An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium.


Abnormal atrial septum morphology

description: An abnormality of the interatrial septum.


polyp of vocal cord

description: A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually unilateral and caused by excessive use of the voice.


ovarian thecoma

description: A stromal tumor that arises from the ovary and is characterized by the presence of cells that contain lipid and resemble theca cells. The vast majority of cases are benign.


name: Focal impaired awareness cognitive seizure with memory impairment

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


thymus neoplasm

description: A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma.


chronic otitis media

description: Chronic form of otitis media (disease).


triphalangeal thumb, Nonopposable

description: A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand.


name: Focal-onset seizure evolving into bilateral convulsive status epilepticus

description: A type of bilateral convulsive seizure of focal onset (which could be with awareness or impaired awareness, either motor or non- motor) that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus.


Thyroid adenoma

description: The presence of a adenoma of the thyroid gland.


name: Anti-asparaginyl-tRNA synthetase antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against asparaginyl-tRNA synthetase.


distal renal tubular acidosis

description: Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia.


myocarditis

description: Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus, Wegener's granulomatosis, giant cell arteritis and Takayasu's arteritis. Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and rarely, a heart transplant may be needed if the heart muscle becomes weak.


chondroma

description: A benign well circumscribed neoplasm of hyaline cartilage arising from bone or soft tissue. It is characterized by the presence of chondrocytes.


immunodeficiency disease

description: Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.


tinea profunda

description: A dermatophytosis that involves the deep dermal layers.


Cystic pattern on pulmonary HRCT

description: On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema.


name: Anti-topoisomerase I antibody positivity

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


Ductus venosus agenesis

description: A developmental defect characterized by lack of formation of the ductus venosus (a shunt that allows oxygenated blood in the umbilical vein to bypass the liver in the fetal circulation).


Breast myxoma

description: A rare, benign mesenchymal tumor of the breast characterized histologically by stellate, round, and spindle-shaped cells with vesicular nuclei and scant cytoplasm that are scattered in the myxoid stroma.


arachnoid cyst

description: Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with hydrocephalus; headache; seizures; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115)


Dorsal hirsutism

description: Abnormally increased hair growth in the lskin of the back.


congenital absence of septum pellucidum

description: The absence of the septum pellucidum is a rare condition that affects the structure of the brain. Specifically, a thin membrane called the septum pellucidum is missing from its normal position in the middle of the brain. When it is missing, symptoms may include learning difficulties, behavioral changes, seizures, and changes in vision. Absence of the septum pellucidum is not typically seen as an isolated finding. Instead, absence of the septum pellucidum is associated with other conditions such as septo-optic dysplasia. Treatment options for the condition vary depending on the underlying disorder. Diagnosis of absence of the septum pellucidum can be made through imaging such as an MRI. Symptoms of absence of the septum pellucidum typically present during childhood, but a diagnosis can also be made before an individual is born (prenatally). If an individual is found to be missing the septum pellucidum, a search for an underlying disorder should be made.


focal segmental glomerulosclerosis 1

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene.


name: Posterior fossa cyst at the fourth ventricle


prolapse of urethra

description: Prolapse of the urethral mucosa from the exterior urethral opening.


Sagittal craniosynostosis

description: A kind of craniosynostosis affecting the sagittal suture.


nervous system cancer

description: A primary or metastatic malignant neoplasm involving the nervous system.


name: Anomalous insertion of papillary muscle directly into anterior mitral leaflet

description: A congenital malformation in which one or both of the papillary muscles (posteromedial or anterolateral) insert directly (that is, without interpositioned chordae tendineae) into the anterior mitral leaflet.


tooth ankylosis

description: Dental ankylosis is a rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement.


name: Anti-asialoglycoprotein receptor antibody positivity

description: Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation.


Tongue neurofibroma

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


name: Nodular-random pattern on pulmonary HRCT

description: A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern.


name: Double inlet to single ventricle with common atrioventricular orifice


craniofacial dystonia

description: A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck.


acromial dimples

description: A subtype of skin dimples occurring in the shoulder region.


Abnormal aortic valve morphology

description: Any abnormality of the aortic valve.


pulmonary subvalvular stenosis

description: The obstruction of the right ventricular outflow tract that originates within the body of the right ventricle, that exists at the time of birth; it often occurs in association with other intracardiac anomalies.


name: vitamin K deficiency hemorrhagic disease

description: Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding.


oligohydramnios

description: A lower than normal quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of less than 5 cm or a single maximum vertical pocket (MVP) of less than 2 cm.


Type VI atherosclerotic lesion

description: Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes.


name: Focal aware sensory seizure with olfactory features

description: Seizures characterized by olfactory phenomena at onset - usually an odor, which is often unpleasant.


Acute demyelinating polyneuropathy

description: Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration.


Abnormal right atrium morphology

description: Any structural abnormality of the right atrium.


cerebral palsy

description: A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain.


venous insufficiency

description: Impaired venous blood flow or venous return (venous stasis), usually caused by inadequate venous valves. Venous insufficiency often occurs in the legs, and is associated with edema and sometimes with venous stasis ulcers at the ankle.


Carcinoid tumor of the pancreas

description: A carcinoid tumor of the pancreas (CTP) is a rare neuroendocrine tumor arising from the serotonin-secreting cells (enterochromaffin or Kultscitsky's cells).


split hand-foot malformation

description: Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported.


description: Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body asymmetrically.


3-5 finger cutaneous syndactyly

description: A soft tissue continuity in the anteroposterior axis between the third to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints.


diffuse alveolar hemorrhage

description: A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen.


megalodactyly

description: A condition in which a finger or toe is larger than normal size secondary to excessive growth of the anatomical structures or abnormal accumulation of substances.


Dialeptic seizure

description: A dialeptic seizure is a type of seizure characterized predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event.


name: Abnormality of digestive system physiology

description: A functional anomaly of the digestive system.


nose, anomalous shape of

description: Increased volume and globular shape of the anteroinferior aspect of the nose.


Anti-Gephyrin antibody

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


Generalized non-motor (absence) seizure

description: A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.


pituicytoma

description: An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido.


acanthosis nigricans

description: A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy.


Abnormality of the face

description: An abnormality of the face.


Anti-GD1a antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a.


sweat gland disorder

description: A disease involving the sweat gland.


skin disorder

description: Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs.


description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neurexin-3alpha.


preaxial hallucal polydactyly

description: Duplication of all or part of the first ray.


name: Hemosiderin-laden macrophages in bronchoalveolar fluid

description: Hemosiderin-laden macrophages (HLM) in bronchoalveolar lavage (BAL) fluid were originally known as adiagnostic biomarker of alveolar hemorrhage, but have also been observed in idiopathic pulmonary fibrosis (IPF) with histopathological pattern of usual interstitial pneumonia (UIP).


Pelizeaus-Merzbacher spectrum disorder

description: An X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD.


precocious puberty

description: Unusually early sexual maturity.


Cutaneous finger syndactyly

description: A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers.


Type I atherosclerotic lesion

description: Type I lesions represent the very initial changes and are recognized as an increase in the number of intimal macrophages and the appearance of macrophages filled with lipid droplets (foam cells).


perinephritis

description: Inflammation of the connective and adipose tissues surrounding the kidney.


pseudohypoaldosteronism

description: An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate.


name: Abnormal spatial orientation of the cardiac segments

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


prostate neoplasm

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


4-5 toe syndactyly

description: Syndactyly with fusion of toes four and five.


Angiofibromas

description: Angiofibroma consist of many often dilated vessels.


Anti-Yo antibody positivity

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


name: Focal impaired awareness cognitive seizure with hallucination

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


diphallia

description: Two penile structures, separated from the tip to the base of the shaft.


1-3 finger syndactyly

description: Syndactyly with fusion of fingers one to three.


myelomeningocele

description: Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a persons head grows too big, and theymay have brain damage. Other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect.


scurvy

description: A condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Scurvy can be cured with vitamin C supplements taken by mouth. Once recovery is complete, dietary modifications to ensure the 'recommended daily intake' of vitamin C is reached will prevent relapse. Except in the case of severe dental disease, permanent damage from scurvy does not usually occur.


malignant endocrine neoplasm

description: A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma.


Anti-Mi2 antibody positivity

description: The presence of autoantibodies in the blood circulation that react against the Mi-2 antigen.


atrial septal defect

description: Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart.


anterograde amnesia

description: Loss of the ability to form new memories beyond a certain point in time. This condition may be organic or psychogenic in origin. Organically induced anterograde amnesia may follow craniocerebral trauma; seizures; anoxia; and other conditions which adversely affect neural structures associated with memory formation (e.g., the hippocampus; fornix (brain); mammillary bodies; and anterior thalamic nuclei). (From Memory 1997 Jan-Mar;5(1-2):49-71)


Bloody bronchoalveolar lavage fluid

description: Return of lavage fluid characteristically has a bloody appearance in pulmonary alveolar hemorrhage. This is due to admixture of blood, which typically increases with each consecutive lavage portion. Microscopically erythrocytes can be seen. After 24 to 48 h macrophages contain phagocytosed erythrocytes, indicating previous bleeding.


name: Bilateral sensorineural hearing impairment

description: A bilateral form of sensorineural hearing impairment.


name: platelet-activating factor acetylhydrolase deficiency

description: Reduced level of platelet-activating factor acetylhydrolase.


Urinary bladder hamartoma

description: A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the urinary bladder.


situs inversus

description: A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning).


epidermolytic ichthyosis

description: A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.


placental abruption

description: Vaginal bleeding preceding the 20th week of gestation.


Abnormal digestive system morphology

description: A structural anomaly of the digestive system.


patent urachus

description: Patent urachus is a type of congenital urachal anomaly characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus.


hypotensive disorder

description: Blood pressure that is abnormally low.


Excessive daytime somnolence

description: A state of abnormally strong desire for sleep during the daytime.


name: Abnormal gastrointestinal tract morphology

description: Abnormal structure of the gastrointestinal tract.


limb-girdle muscular dystrophy

description: Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.


Leydig cell hypoplasia

description: A condition in males that affects sexual development. It is characterized by underdevelopment of the Leydig cells, which are cells in the testes that secrete male sex hormones (androgens) and are important for male sexual development. Individuals with LCH have a typical male genetic make-up (46, XY), but due to lowered levels of androgens, may have a range of genital (reproductive organ) differences. Individuals with LCH may have a small penis (micropenis),the opening of the urethra may be located on the underside of the penis (hypospadias), or the scrotum may be divided into two halves (bifid scrotum). Given these differences in development, the external genitalia may not appear clearly male or female (ambiguous genitalia). Some individuals with LCH can have female external genitalia and small testes that have not descended and are located in the pelvis, abdomen, or groin. This may be referred to as type 1, whereas less severe cases might be called type 2. LCH is inherited in an autosomal recessive manner and is caused by mutations in the LHCGR gene.Although there is no specific treatment or cure for LCH, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.


Reticular pattern on pulmonary HRCT

description: On pulmonary high-resolution computed tomography, reticular pattern is characterized by innumerable interlacing shadows suggesting a mesh.


Esophageal hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the esophagus.


Anti-H1 antibody positivity

description: The presence of autoantibodies in the blood circulation that react against histone H1.


Granuloma

description: A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis.


Pulmonary artery adventitial fibrosis

description: Increased amount of collagen, proteoglycans, and other extracellular matrix proteins resulting in scarring and thickening in the adventia of the pulmonary arterial tree.


Myoclonic seizure

description: A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.


primary cutis verticis gyrata

description: Cutis verticis gyrata (CVG) is a progressive cutaneous disorder predominantly affecting males and characterized by hypertrophy and thickening of the skin of the scalp forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. CG can be isolated (essential CVG) or associated with other abnormalities such as intellectual deficit, epilepsy, cataract, blindness, and deafness (non essential CVG).


keloid

description: An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively.


Deep venous thrombosis

description: Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.


fetal akinesia deformation sequence

description: Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes.


brachydactyly type A5

description: Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb.


narcolepsy

description: A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day.


Photosensitive tonic-clonic seizure

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


testicular teratoma

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.


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.


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.


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.


deafness, unilateral

description: A unilateral absence of sensory perception of sound.


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.


Phimosis

description: The male foreskin cannot be fully retracted from the head of the penis.


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.


Tako-tsubo cardiomyopathy

description: Takotsubo cardiomyopathy (TC) is a recently described acute cardiac syndrome that mimics acute myocardial infarction and is characterized by ischemic chest symptoms, an elevated ST segment on electrocardiogram, and elevated levels of cardiac disease markers.


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.


Selective mutism

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


periostitis

description: Inflammation of the periosteum. The condition is generally chronic, and is marked by tenderness and swelling of the bone and an aching pain. Acute periostitis is due to infection, is characterized by diffuse suppuration, severe pain, and constitutional symptoms, and usually results in necrosis. (Dorland, 27th ed)


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.


demyelinating polyneuropathy

description: Polyneuropathy that is characterized by demyelination of axons.


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.


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.


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.


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.


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.


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.


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).


Anti-GluK2 antibody

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


Leukocytosis

description: An abnormal increase in the number of leukocytes in the blood.


Anti-sphingolipid antibody positivity

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


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.


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.


cleft lip

description: A congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse.


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.


name: Focal impaired awareness behavior arrest seizure

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


Subcutaneous neurofibroma

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


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).


Abnormal pulmonary vein morphology

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


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.


scrotum neoplasm

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


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.


Abnormal atrial arrangement

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


Supravalvar pulmonary stenosis

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


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).


Cardiomegaly

description: Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.


central nervous system vasculitis

description: Vasculitis affecting the blood vessels of the brain and/or spinal cord.


Motor delay

description: A type of Developmental delay characterized by a delay in acquiring motor skills.


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.


hemorrhagic disease

description: Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders).


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.


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.


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.


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.


Kidney teratoma

description: A teratoma located in a kidney.


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.


dementia

description: Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders.


delirium

description: A disorder characterized by confusion; inattentiveness; disorientation; illusions; hallucinations; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2)


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.


Anti-PM-Scl100 antibody positivity

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


3-5 toe syndactyly

description: Syndactyly with fusion of toes three to five.


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.


Anti-vinculin antibody positivity

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


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.


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


name: Anti-carbonic anhydrase II antibody positivity

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


Sleep terror

description: Episodes of intense fear, screaming, and flailing occur even though the affected individuals are still asleep.


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.


kidney papillary necrosis

description: A complication of kidney diseases characterized by cell death involving kidney papilla in the kidney medulla. Damages to this area may hinder the kidney to concentrate urine resulting in polyuria. Sloughed off necrotic tissue may block kidney pelvis or ureter. Necrosis of multiple renal papillae can lead to kidney failure.


stereotypic movement disorder

description: Motor behavior that is repetitive, often seemingly driven, and nonfunctional. This behavior markedly interferes with normal activities or results in severe bodily self-injury. The behavior is not due to the direct physiological effects of a substance or a general medical condition. (dsm-iv, 1994)


breast neoplasm

description: A benign or malignant neoplasm of the breast parenchyma. It can originate from the ducts, lobules or the breast adipose tissue. Breast neoplasms are much more common in females than males.


trigger thumb

description: A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58).


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.


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.


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.


hyperlipidemia

description: Elevated levels of lipids in the blood.


name: Short chordae tendineae of the tricuspid valve

description: Abnormally short chordae tendineae of the tricuspid valve.


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.


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".


hydatidiform mole

description: A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes.


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.


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.