Cardiac rhabdoid tumor

description: A rare and aggressive neoplasms developing mainly in the kidney but also in cerebral and extra-cerebral tissues and rarely in the heart. Histologically, rhabdoid renal and extrarenal tumors share common characteristics. The cells are polygonal, with eccentric, vesicular nuclei and prominent nucleoli, eosinophilic cytoplasmic inclusions. The tumors have an infiltrative growth pattern, necrosis, and high proliferative index. The immunohistochemistry tools of investigation facilitate differential diagnosis by showing loss of INI-1 expression, usually accompanied by germline mutations of the SMARCB1 gene. When INI-1 is still expressed in the affected tissues, a rhabdoid tumor with SMARCA4 mutations should be considered.


name: Complete duplication of the distal phalanx of the 3rd finger

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

description: Complete duplication of the distal phalanx of middle finger


name: Decreased glucose-6-phosphate dehydrogenase level in red blood cells

description: A decrease in the level of glucose-6-phosphate dehydrogenase in red blood cells.


name: Intracranial internal carotid artery dissection

description: A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall.


name: Aplasia/Hypoplasia of the distal phalanx of the 5th toe


Unilambdoid synostosis

description: Premature synostosis of only one lambdoid suture.


Typical absence seizure

description: A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event.


Negativism

description: Opposing or not responding to instructions or external stimuli.


Abnormal sperm neck morphology

description: A structural abnormality of the sperm neck.


Decreased fetal movement

description: An abnormal reduction in quantity or strength of fetal movements.


Amplification of sexual behavior

description: .An abnormal increase of libido (sexual desire), typically accompanied by a higher frequency of sexual activity compared to from a person's previous norm.


Abnormality of urinary uric acid level

description: Abnormal amount of urate in the urine.


Tessier number 8 facial cleft

description: The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ''Goldenhar syndrome''. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae.


Tics

description: Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppressible and are usually associated with awareness of an urge to perform the movement.


Cutaneous necrosis

description: Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red colored skin.


Delayed eruption of permanent teeth

description: Delayed tooth eruption affecting the secondary dentition.


Bullet-shaped middle toe phalanx

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


Abnormal finger morphology

description: An anomaly of a finger.


Anti-Sj/ITPR1 antibody

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


Abnormal foot bone ossification

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


Spermiation failure

description: Spermiation failure is indicated by apparently normal spermiogenesis, but the presence of retained Sd2 spermatids in stages III-V of human spermatogenesis, whereas maturation arrest is indicated by a lack of late Sd1 and Sd2 spermatids in the epithelium.


Abnormal urinary uromodulin level

description: The concentration of uromodulin (also known as Tamm Horsfall protein) in the urine, normalized for usine concentration, is outside the limits of normal.


selective IgG immunodeficiency

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

description: A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of immunoglobulin class G (IgG). Deficiencies of IgG present variably according to subclass. IgG deficiencies are typically relative among subclasses and not absolute. Thus even with a given selective IgG subclass deficiency, total IgG levels may still fall within normal range. The clinical course and prognosis is dependent upon the severity of the deficiency and associated morbidity.


Hyposerinemia

description: Reduced concentration of serine in the blood.


Thickened Achilles tendon

description: An abnormal thickening of the Achilles tendon.


Increased fetal lens echogenicity

description: Increased echogenicity (increased brightness in the gray-scale sonography image) of the lens of a fetus.


Fracture blister

description: Fracture blister is a type of blister that forms following acute bone fractures, typically near the ankle, wrist elbow or foot, where skin adheres tightly to bone with little subcutaneous fat cushioning. The blister that results resembles that of a second degree burn.


name: Hyperintensity of MRI T2 signal of the spinal cord

description: A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord.


name: Aplasia of the proximal phalanx of the 5th toe


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


name: Sonographic renal salt and pepper pattern

description: Heterogeneous, increased parenchymal echogenicity. This imaging appearance is caused by multiple tiny cysts smaller than or just approaching the size necessary for detection, which disrupt the echo pattern without being clearly distinguishable, and appear as white grains on renal ultrasound, mainly in a subcapsular location.


Cutis marmorata

description: A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.


Alaninuria

description: An increased level of alanine in the urine.


Cortical peritubular capillaritis

description: Inflammation of the peritubular capillaries in the cortex of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells.


Occipital cortical atrophy

description: Atrophy of the occipital cortex.


Mild proteinuria

description: Mildly increased levels of protein in the urine (150-500 mg per day in adults).


Glomerular pseudocrescent

description: Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact.


Abnormal number of permanent teeth

description: The presence of an altered number of of permanent teeth.


name: Renal tubular epithelial cell hyaline droplets

description: Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell.


name: Positive Neisseria gonorrhoeae urine nucleic acid test

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


Subcutaneous lipoma

description: The presence of subcutaneous lipoma.


name: Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level

description: Increased amount of 5-amino-4-imidazolecarboxamide(AICA)-riboside in the urine. AICA-riboside is the dephosphorylated counterpart of AICAR, an intermediate of de novo purine biosynthesis.


Prominent veins on trunk

description: Prominent thoracic and abdominal veins.


Elevated urinary glycolic acid level

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


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

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


name: Fragmentation of the epiphyses of the hallux


EEG with generalized slow activity

description: Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


Class II obesity

description: Obesity with a body mass index of 35 to 39.9 kg per square meter.


Renal cortical hyperechogenicity

description: Increased echogenecity of the kidney cortex.


name: Abnormal circulating keto acid concentration

description: A deviation from the normal concentration of a keto acid in the blood circulation. Keto acids or ketoacids are organic compounds that contain a carboxylic acid group and a ketone group.


Bilateral trilobed lung

description: Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes.


Neuronal loss in basal ganglia

description: A reduction in the number of nerve cells in the basal ganglia.


Placental infarction

description: Interruption of the blood supply to a portion of the placenta, resulting in ischemic necrosis.


Pulmonary air embolism

description: Venous air embolism is a consequence of air being introduced into the venous circulation, and subsequently to the right heart, and pulmonary circulation. When small amounts of air reach pulmonary circulation they can be removed by gas diffusion across the arteriolar wall into the alveoli, amounts of gas exceeding 50 ml can cause pulmonary outflow tract obstruction with or without concomitant arterial embolisation.


Absence of lymph node germinal center

description: Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses.


Aplasia of the right hemidiaphragm

description: Congenital absence of the right-sided diaphragm.


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


1-3 toe syndactyly

description: Syndactyly with fusion of toes one to three.


Neonatal hypoproteinemia

description: A neonatal decreased concentration of proteins in the blood.


Bridged palmar crease

description: A crease that connects the proximal and distal transverse palmar creases.


Abnormal knee morphology

description: A structural abnormality of the knee joint or surrounding structures.


name: Increased proportion of naive CD8 T cells

description: An abnormally increased proportion of naive CD8 T cells relative to the total number of T cells.


Elevated CSF beta-alanine concentration

description: The concentration of beta-alanine present in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Cartilaginous tracheobronchomalacia

description: Softening of the tracheal and/or bronchial cartilage resulting in segmental tracheal and/or bronchial weakness.


Increased HDL3b concentration

description: An elevation above the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.


Increased circulating progesterone

description: An elevated concentration of progesterone in the blood.


name: Steroid-sensitive nephrotic syndrome with infrequent relapses

description: A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period.


Bilateral wrist flexion contracture

description: A chronic loss of wrist joint motion on the right and left sides.


Abnormal placental size

description: A deviation from normal size of the placenta.


name: celiac artery stenosis from compression by median arcuate ligament of diaphragm

description: A vascular compression syndrome attributed to celiac trunk compression by the median arcuate ligament of the diaphragm, with presentations ranging from completely asymptomatic to myriad gastrointestinal symptoms, including chronic abdominal pain (CAP), post-prandial pain, nausea and vomiting, anorexia, early satiety, and subsequently weight loss.


name: Focal aware autonomic seizure with erection

description: A focal autonomic seizure with erection characterized by retained awareness throughout the seizure.


Presence of uterus in 46,XY individual

description: A developmental anomaly in which an individual with an X chromosome and a Y chromosome (usually 46,XY) has a uterus. The uterus and Fallopian tubes are derived from the Müllerian duct and thus this phenotype is generally also associated with the presence of Fallopian tubes.


name: Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine

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


Focal manual automatism seizure

description: A type of focal automatism seizure characterized by manual automatisms at onset.


Nasal flaring

description: Widening of the nostrils upon inhalation as a manifestation of respiratory distress.


infantile digital fibromatosis

description: A rare benign neoplasm arising from the soft tissues of the digits, in young children. It is characterized by the presence of fibroblastic spindle cells, and intracytoplasmic eosinophilic spherical inclusions.


Vascular malformation of the lip

description: An anomaly of blood vessels located in the lip.


Duplicate uterine cervix

description: A congenital developmental defect characterized by the presence of two cervices on the uterus.


name: Aplasia/Hypoplasia of the distal phalanges of the toes

description: Absence or underdevelopment of the distal phalanges of the toes.


Absent vas deferens

description: Aplasia (congenital absence) of the vas deferens.


name: Reduced brain N-acetyl aspartate level by MRS

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


name: Osteomyelitis leading to amputation due to slow healing fractures


Abnormal arterial physiology

description: An anomaly of arterial function.


Trifascicular block

description: Abnormal conduction in all three divisions of the intraventricular conducting tissue.


name: Glomerular parietal epithelial cell hypertrophy

description: An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present


Abnormal CSF lactate concentration

description: Abnormal concentration of lactate in the cerebrospinal fluid.


Loud snoring

description: Snoring at a particularly loud or abnormally high volume.


description: Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains.


Congenital hydrocele

description: Congenital hydrocele occurs when processus vaginalis is patent and communicates with the peritoneal cavity. This communication allows the movement of peritoneal fluid but is too small to allow the intra-abdominal contents to herniate through.


Fetal megacystis

description: Fetal megacystis is an abnormally enlarged bladder identified at any gestational age.


Equinus calcaneus

description: Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees.


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

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


name: Aplasia/hypoplasia of the proximal phalanx of the 4th toe

description: Absence (agenesis) or underdevelopment of the proximal phalanx of the 4th toe.


Dysphoria

description: A state of feeling very unhappy, uneasy, or dissatisfied.


Anti-GM4 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM4.


name: Abnormal dermoepidermal junction morphology

description: Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments.


Abnormal layering of muscularis propria

description: Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer.


Complex febrile seizure

description: A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period.


Hypodipsia

description: Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake.


name: Abnormal circulating calcium concentration

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


Excessive shyness

description: Atypically high degree of awkwardness or apprehension experienced when approaching or being approached by others.


Decreased numbers of nephrons

description: A reduction in the count of nephrons per kidney.


name: Bracket epiphysis of the proximal phalanx of the hallux

description: The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form.


Abnormality of the calcaneus

description: An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel.


Centrilobular emphysema

description: A type of emphysema characterized by destroyed centrilobular alveolar walls and enlargement of respiratory bronchioles and associated alveoli. This is the commonest form of emphysema in cigarette smokers. CT findings are centrilobular areas of decreased attenuation, usually without visible walls, of nonuniform distribution and predominantly located in upper lung zones.


Sacrococcygeal pilonidal abnormality

description: The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds.


Downturned corners of mouth

description: A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.


Arcuate vein lumen organized thrombi

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


Copper accumulation in liver

description: An anomalous build up of copper (Cu) in the liver.


name: Ivory epiphysis of the proximal phalanx of the hallux


Abnormal thorax morphology

description: Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).


Joint subluxation

description: A partial dislocation of a joint.


Abnormal cardiac ventricle morphology

description: An abnormality of a cardiac ventricle.


laurin-Sandrow syndrome

description: Laurin-Sandrow syndrome (LSS) is characterized by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.


Nevus roseus

description: A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life.


Pulmonary pneumatocele

description: A pneumatocele is a thin walled, gas-filled space in the lung. It is most frequently caused by acute pneumonia, trauma, or aspiration of hydrocarbon fluid and is usually transient. The mechanism is believed to be a combination of parenchymal necrosis and check-valve airway obstruction. A pneumatocele appears as an approximately round, thin-walled airspace in the lung.


Total anosmia

description: Inability to detect any qualitative olfactory sensation.


Legg-Calve-Perthes disease

description: A hip region disease that is characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible.


Displacement of the papillary muscles

description: Abnormal location of the insertion of a papillary muscle into the left ventricular wall.


Elevated urinary dolichol level

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


Mucopolysacchariduria

description: Excessive amounts of mucopolysaccharide in the urine.


Submucous cleft lip

description: A cleft of the lip with overlying mucous membrane.


EEG with focal epileptiform discharges

description: EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


Rectal perforation

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


name: Abnormal glomerular basement membrane morphology

description: Any abnormal sttructure of the glomerular basement membrane.


Rubral tremor

description: Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements.


Fusiform abdominal aortic aneurysm

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


Tip-toe gait

description: An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.


name: Abnormality of the upper respiratory tract

description: An abnormality of the upper respiratory tract.


Irregular myelin loops

description: Presence of irregular redundant loops of focally folded myelin in a peripheral nerve.


adenoiditis

description: An inflammatory disease involving a pathogenic inflammatory response in the pharyngeal tonsil.


Lower limb muscle weakness

description: Weakness of the muscles of the legs.


Asplenia

description: Absence (aplasia) of the spleen.


name: Abnormal circulating fetuin A concentration

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


name: Decreased circulating apolipoprotein A-II concentration

description: Concentration of apolipoprotein A-II below the lower limit of normal.


name: Cone-shaped epiphysis of the distal phalanx of the 2nd toe


Abnormal peripheral myelination

description: An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense.


name: Anti-human ferritin peptide antibody positivity

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


Focal aware seizure

description: A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile.


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

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


name: Congenitally corrected transposition of the great arteries with ventricular septal defect

description: A congenitally corrected transposition of the great arteries with a ventricular septal defect: a hole between the two bottom chambers (ventricles) of the heart. The ventricular septal defect is centered around the most superior aspect of the ventricular septum.


Thick corpus callosum

description: Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain.


Osseous syndactyly of toes

description: Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".


name: Complete duplication of the distal phalanx of the 5th toe

description: Complete duplication of the distal phalanx of little toe.


name: Orthodromic atrioventricular reentrant tachycardia

description: A type of atrioventricular reentrant tachycardia (AVRT) where the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction.


Renal interstitial deposits

description: Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney.


Abnormal head blood vessel morphology

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


Vaginal foreign body sensation

description: A perception that an object located in the vagina.


name: Increased anti-animal dander IgE antibody level

description: Increased level of IgE antibody against animal dander, tiny scales shed from animal skin or hair, such as from pet dogs or cats.


Left-to-right shunt

description: Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right.


Sleep-related breathing disorders

description: Conditions of abnormal and difficult respiration during sleep, including chronic snoring and sleep apnea.


Mandibular hyperostosis

description: Hyperostosis (bony overgrowth) of the mandible.


Serpiginous cutaneous lesion

description: A skin lesion with a snake- or serpent-like distribution.


Vaginal hydrocele

description: A type of hydrocele testis in which the processus vaginalis remains patent only around the testes, and, as fluid accumulates, it renders the testes impalpable.


Elevated urinary bile acid level

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


neoplasm of jaw

description: A neoplasm (disease) that involves the jaw skeleton.


Hip flexor weakness

description: Reduced ability to flex the femur, that is, to pull the knee upward.


name: Abnormal common carotid artery morphology

description: An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery.


name: Esophageal myenteric plexus degeneration

description: Deterioration of the cells of the myenteric plexus (also known as the Auerbach plexus) located between the layers of the muscular propria of the esophagus.


Glomerular basement membrane disruption

description: A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver.


Epileptic encephalopathy

description: A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.


name: hyperphenylalaninemia due to tetrahydrobiopterin deficiency

description: Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine.


Emotional blunting

description: Inability to feel positive or negative emotions, feelings of detachment, or reduced emotional responsiveness.


hypersensitivity vasculitis

description: A small vessel vasculitis affecting the skin and/or internal organs. It is characterized by the presence of neutrophils and fibrinoid necrosis in small arteries and venules. It may be idiopathic or the result of drug treatment, infections, food intake, collagen vascular disorders, inflammatory bowel disease, or cancer.


Recurrent vulvovaginal candidiasis

description: Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida.


Arcuate vein medial/intimal necrosis

description: Cell death (necrosis) of the inner or middle layer of the arcuate veins of the kidney.


Dentin dysplasia

description: This is a bundled term as dentin dysplasia is composed of short roots with pointed ends and taurodontism and intrapulpal calcifications.


Clinical course

description: The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual.


Lymph node hypoplasia

description: Underdevelopment of the lymph nodes.


Hallux rigidus

description: Osteoarthritis of the metatarsophalangeal joint of the first toe.


Pretibial hyperpigmentation

description: Darkening of the area of skin that overlies the shin.


Generalized clonic seizure

description: Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups.


name: Bullet-shaped middle phalanx of the 5th toe

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


Increased hepatic glycogen content

description: An increase in the amount of glycogen stored in hepatocytes compared to normal.


Decreased CSF amyloid concentration

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


ganglioglioma

description: A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. (Adapted from WHO)


name: Decreased circulating sialic acid concentration

description: Concentration of sialic acid in the blood circulation below the lower limit of normal.


name: Prominent nucleoli of renal tubular epithelial cells

description: Tubular epithelium with nucleoli clearly visible at 100-fold magnification.


Abnormality of the abdominal wall

description: The presence of any abnormality affecting the abdominal wall.


name: Reduced circulating NT-proANP concentration

description: The concentration of NT-proANP in the blood circulation is below the lower limit of normal.


Low anterior hairline

description: Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.


Pancreatic islet cell adenoma

description: The presence of an adenoma of the pancreas with origin in a pancreatic B cell.


Abnormal aortic arch morphology

description: An anomaly of the arch of aorta.


Tactile hallucination

description: Perception of touch without a tactile stimulus.


Platypnea

description: A type of dyspnea that occurs when the affected person changes from a recumbent to an upright position.


BCGosis

description: Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis.


Ectopic accesory toe-like appendage

description: In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the fibular side of the foot, next top the little toe), preaxial (on the tibial side of the foot, next to the big toe) or mesoaxial (somewhere central, between big and little toe), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200).


name: Parathormone-independent increased renal tubular calcium reabsorption

description: An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels.


Absent first metatarsal

description: A developmental defect characterized by the absence of the first metatarsal bone.


Diminishment of emotional expression

description: A reduction in the tendency of a person to express emotions that is typically noticed as a change in behavior by family members or peers.


name: Complete or near-complete absence of specific antibody response to meningococcus vaccine

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


Congenital abnormal hair pattern

description: A congenital abnormality of the distribution of hair growth.


Fetal neck anomaly

description: A structural anomaly in the fetal neck region. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.


description: Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome.


Munchausen by proxy

description: A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others.


Poroma

description: A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273].


Exogenous lipoid pneumonia

description: A type of lipoid pneumonia in which the source of the lipids is external to the body.


name: Decreased circulating carnosine concentration

description: A decreased amount of carnosine in bood.


Decerebrate rigidity

description: A type of rigidity that is manifested by an exaggerated extensor posture of all extremities.


name: Renal tubular epithelial cell simplification

description: Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts.


name: Decreased urinary catecholamine concentration


Upper extremity akinesia

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


Hypoplastic thumbnail

description: A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail.


Aborted sudden cardiac death

description: Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it.


name: Abnormal renal collecting system morphology

description: An abnormality of the renal collecting system.


Non-acidotic proximal tubulopathy

description: A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss.


Abnormal pulmonary fissure architecture

description: An abnormal form or location of a pulmonary fissure.


Excessive dental attrition

description: A higher than expected amount of attrition of teeth, as menifested by loss of tooth characteristics including rounding or sharpening of incisal edges, loss of cusps, and fracturing of teeth, to an extent that is deemed more than would be expected at a given age.


name: Contracture of the metatarsophalangeal joint of the 5th toe

description: The joint between the fifth metatarsal and the proximal phalanx of the fifth toe cannot be straightened actively or passively.


Perioral hyperpigmentation

description: Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips.


Fractured maxilla

description: A partial or complete breakage of the maxilla.


gamma-heavy chain disease

description: Gamma-heavy chain disease (gamma-HCD) is a type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases.


Triceps hyperreflexia

description: Increased intensity of the triceps reflex.


Brachioradialis hyporeflexia

description: Reduced intensity of the brachioradialis tendon reflex.


Suicide behaviors

description: Suicide attempts or preparations


name: Snowstorm pattern of uterus on ultrasound

description: A sonographic snowstorm pattern of the uterusresults from the presence of a complex vesicular intrauterine mass containing many grape-like cysts.


kleptomania

description: A disorder characterized by the recurrent failure to resist the impulse to steal items of little intrinsic value; the individual experiences a rising subjective sense of tension before the theft and a sense of gratification or relief during the theft.


Trichodysplasia

description: Developmental dysplasia of the hair.


Enlarged gastric folds

description: Giant gastric folds are recognized at endoscopy as an increase in the size of the gastric rugae and a lack of flattening.


name: Abnormal circulating glutamate concentration

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


name: Type 3 congenital pulmonary airway malformation

description: A type of congenital pulmonary airway malformation that is characterized by a bulky firm mass with an adenomatoid appearance.


Abnormal nasopharynx morphology

description: A structural anomaly of the nasopharynx.


Impaired tactile sensation

description: A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.


Increased myocardial glycogen content

description: Elevated amount of glycogen in the myocardium.


Quadricuspid aortic valve

description: The presence of an aortic valve with four instead of the normal three cusps (flaps).


Multidrug-resistant nephrotic syndrome

description: A form of nephrotic syndrome that does not respond to any immunosuppresive treatment.


Hepatic necrosis

description: The presence of cell death (necrosis) affecting the liver.


name: Recurrent acute respiratory tract infection

description: A history of repeated acute infections of the upper or lower respiratory tract.


name: Focal aware emotional seizure with anger

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


Brown pigment gallstones

description: A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones.


name: Elevated circulating fumarate concentration

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


Temporal hypotrichosis

description: Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull).


Bullet-shaped proximal toe phalanx

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


name: Abnormality of the epiphyses of the 4th toe


platelet aggregation, spontaneous

description: Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation.


Abnormality of secondary sexual hair

description: Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair.


Interlobular septal thickening

description: Presence of thickening of the interlobular septa of the lungs as seen on a CT scan.


name: Impaired cortisol response to glucagon stimulation test

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


Left-right disorientation

description: A tendency to mix up left and right in one's own body space, typically elicited by asking a person to perform a two-stage command involving specified lateralized anatomy.


Recurrent thromboembolism

description: Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream.


Severe infection

description: A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection.


name: Reduced epidermal extracellular matrix protein 1 protein expression

description: Lower than normal amount of extracellular matrix protein 1 (ECM1) in the epidermis.


Focal impaired awareness motor seizure

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


name: Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes


Hypoplastic sweat glands

description: Underdevelopment of the sweat glands.


Lower limb dysmetria

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


Agenesis of maxillary central incisor

description: Agenesis of upper secondary incisor or of upper central primary incisor.


Transient psychotic episodes

description: Relatively short-lived periods of psychosis are characterized by the sudden onset of severe disturbances in perception, thinking, and behavior. These episodes typically last for a brief duration, generally ranging from a few days to a few weeks, and are often triggered by a significant stressor or traumatic event.


Muted facial expression

description: A tendency to produce facial expressions with decreased intensity or expressivity which appear muted or flat.


Pulmonary situs inversus

description: Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus.


Abnormal lingual nerve morphology

description: Any structural anomaly of a lingual nerve.


name: Deep cerebral white matter hyperintensities

description: Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system.


Glomerular deposits

description: An abnormal accumulation of protein in the glomerulus.


Reduced natural killer cell activity

description: Reduced ability of the natural killer cell to function in the adaptive immune response.


Bloody mucoid diarrhea

description: Passage of many stools containing blood and mucus.


Ureteral duplication

description: A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.


Dilatation of the tricuspid annulus

description: An increase in the diameter of the ring (annulus) of the tricuspid valve.


Localized skin lesion

description: A lesion of the skin that is located in a specific region rather than being generalized.


Unroofed coronary sinus

description: Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion.


name: Apical muscular ventricular septal defect

description: A muscular ventricular septal defect located at the apex of the heart.


Muscle hemorrhage

description: Bleeding occuring within a muscle


Type 1 schizencephaly

description: A type of Schizencephaly in which there is a trans-mantle column of abnormal gray matter but no evidence of a CSF-containing cleft on MR imaging.


name: Reduced circulating prekallikrein concentration

description: Reduced concentration of prekallikrein (PK; also known as Fletcher factor) in the blood circulation. PK is the precursor of plasma kallikrein, a serine protease that activates kinins. PK is cleaved to produce kallikrein by activated Factor XII.


Brachioradialis areflexia

description: Inability to elicit brachioradialis tendon reflex.


Fractured clavicle bone

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


Gowers sign

description: A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.


Abnormal retinol-binding protein level

description: A deviation from normal blood concentration of retinol-binding protein (RBP). The most commonly used indicator of vitamin A status is the serum retinol concentration (retinol is one of the several compounds known as vitamin A). The serum RBP concentration is used as a surrogate measure for serum retinol.


Abnormal large intestine morphology

description: Any abnormality of the large intestine.


communicating hydrocephalus

description: An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations.


name: Anti-Zinc transporter 8 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against zinc transporter 8.


name: Glycogen accumulation in pulmonary interstitial cells

description: Accumulation of immature interstitial cells containing abundant cytoplasmic glycogen defined by periodic acid-Schiff (PAS) positive cells.


Abnormal circulating glycerol level

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


Sacral meningocele

description: A congenital abnormality in the sacral region of the spine, in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface.


name: Glomerular basement membrane amyloid spicule

description: Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains.


Pulmonary cylindroma

description: A cylindroma located in the lung. Cylindromas are well-circumscribed, smooth, pale pink nodular tumors, often with arborizing vessels visible. The tumors are slow growing and vary in size from a few millimeters to over 5 mm.


Fusiform cerebral aneurysm

description: A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery.


congenital pulmonary sequestration

description: A rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation.


Abnormal size of pituitary gland

description: A deviation from the normal size of the pituitary gland.


vagus nerve paraganglioma

description: A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia.


Insulin-resistant diabetes mellitus

description: A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels.


Bronchial hemorrhage

description: Bronchial hemorrhage is a focal bleeding located in the bronchial system. It can be diagnosed by tracheobronchoscopy.


Anal intraepithelial neoplasia

description: Anal intraepithelial neoplasia (AIN) is a premalignant lesion of the anal mucosa that is a precursor to anal cancer.


Paroxysmal lethargy

description: Repeated episodes of sudden-onset and transient lethargy.


Increased alpha-globulin

description: An abnormally increased level of circulating alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant.


Anti-Ma1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma1.


Plantar edema

description: An abnormal accumulation of fluid beneath the skin on sole of the foot.


Closed neural tube defect

description: A type of neural tube defect that is covered by skin.


Increased urinary sulfite level

description: The concentration of SO3(2-), i.e., sulfite, in the urine, normalized for urine concentration, is above the upper limit of normal.


Hyperinsulinemic hypoglycemia

description: An increased concentration of insulin combined with a decreased concentration of glucose in the blood.


Foot polydactyly

description: A kind of polydactyly characterized by the presence of a supernumerary toe or toes.


name: Cone-shaped epiphysis of the distal phalanx of the 3rd toe


Obstructive azoospermia

description: Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.


Bilirubinuria

description: Presence of conjugated bilirubin in the urine.


name: histidinuria due to a renal tubular defect

description: An increased concentration of histidine in the urine.


Inferior crossed fused renal ectopia

description: A type of cross fused renal ectopia characterized by fusion between the upper pole of the cross-fused ectopic kidney (located more inferiorly relative to the other kidney) and the lower pole of the other orthotopic kidney (located in a more superior position).


Abnormal lateral ventricle morphology

description: A morphological anomaly of the lateral ventricle.


name: Atrophy/Degeneration affecting the cerebrum

description: The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain.


Microtia, first degree

description: Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean.


testicular microlithiasis

description: The deposition of calcium phosphate microliths within the seminiferous tubules.


name: Abnormal cortical radial artery morphology

description: Any structural anomaly of the radial arteries that branch off at right angles from the arcuate artery and carry blood toward the cortex of the kidney.


name: Focal aware motor seizure with dysarthria/anarthria

description: A focal motor seizure with dysarthria / anarthria characterized by retained awareness throughout the seizure.


Cerebral artery atherosclerosis

description: The formation of the formation of fibrofatty lesions in the wall of an artery located in the brain.


Abnormal urinary sulfate concentration

description: Abnormal concentration of sulfate in the urine.


name: Abnormal aggressive, impulsive or violent behavior


Increased urinary mucus

description: An increased amount of urinary mucus. A small amount of mucus is produced by mucous membrane epithelial cells of the urinary tract. An increased amount of mucus can be detected upon urinalysis or other assays and may indicate conditions such as urinary tract infection, urinary tract reconstruction involving the use of bowel segments, or contamination of the urine sample prior to urinalysis.


Pulmonary arterial plexiform lesion

description: Focal proliferation of pulmonary artery endothelial cells, leading to the formation of complex capillary-like channels.


Febrile status epilepticus

description: A seizure lasting 30 minutes without fully regaining consciousness, provoked by fever (temperature greater than 38.0 degrees Celcius) at the time of seizure-onset, without a prior history of afebrile seizure and with no evidence of an acute central nervous system infection or insult.


Non-periodic recurrent fever

description: Episodic fever that recurs at irregular intervals.


Abnormal rapid eye movement sleep

description: Abnormality of REM Sleep are phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tone except for the eye and middle-ear muscles. There are also phases of rapid eye movements.


C3 nephritic factor positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb).


Retroperitoneal paraganglioma

description: A paraganglioma (previously refered to as chemodectoma) located in the retroperitoneal space. Paragangliomas (also known as extra-adrenal pheochromocytomas) are rare tumors that arise from extra-adrenal chromaffin cells. Paragangliomas are characterized by secretions of excessive catecholamines, including epinephrine, norepinephrine and dopamine, which may lead to clinical symptoms, including episodic hypertension, tachycardia and diaphoresis. However, between 40 and 50% of paragangliomas are non-functional.


Aplasia of the left hemidiaphragm

description: Congenital absence of the left half of the diaphragm.


Abnormal neuron morphology

description: A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions.


Vasospasm

description: Narrowing of an artery due to constriction of the blood vessels.


Appendicitis

description: Appendicitis is inflammation of the vermiform appendix. Appendix a hollow organ located at the tip of the cecum, usually in the right lower quadrant of the abdomen.


Abnormal reproductive system morphology

description: A structural or developmental anomaly of any of the tissues involved in the genital system.


2-4 finger syndactyly

description: Syndactyly with fusion of the fingers two to four.


name: Elevated right ventricular systolic pressure

description: Elevation of right ventricular systolic pressure (RVSP) above normal limits. In adults, RVSP is normally 20-30 mmHg.


Epileptic aura

description: An epileptic aura is a purely subjective clinical manifestation of an epileptic seizure. If an epileptic aura is not followed by loss of awareness or propagation to a bilateral tonic-clonic seizure then it is a type of focal aware non-motor seizure.


Postaxial foot polydactyly

description: Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.


name: Abnormal CSF carboxylic acid concentration

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


hyperalphalipoproteinemia

description: An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease.


name: Focal impaired awareness manual 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 manual automatisms at onset.


name: Osteolytic defects of the proximal phalanges of the hand


Fractures, Open

description: A traumatic break to the bone in which the continuity of the bone has broken through the skin.


Focal aware non-motor seizure

description: A focal non-motor seizure in which awareness is retained throughout the seizure.


Fractured phalanx of pes

description: A partial or complete breakage of the phalanx of pes.


Increased urine glutamate level

description: An increased concentration of glutamate in the urine.


name: Nodular-perilymphatic pattern on pulmonary HRCT

description: A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution.


precocious puberty in female

description: A precocious puberty that involves the female organism.


Abnormal urinary acylglycine profile

description: An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution.


Scanning speech

description: An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly.


Ventricular septal aneurysm

description: A bowing (bulging to one side) of the interventricular septum of more than 15 mm on either side in adults and 5 mm in children during normal cardiac motion.


Intermittent hypothermia

description: Episodes of reduced body termperature.


name: Elevated circulating follicle stimulating hormone level

description: An elevated concentration of follicle-stimulating hormone in the blood.


name: Reduced circulating alpha-1-antitrypsin concentration

description: A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesized and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs.


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

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd toe.


Scalloped appearance of liver surface

description: A lesion associated with pseudomyxoma peritonei whosetypical CT appearance is scalloping of the surface of the liver and spleen caused by loculated accumulations of mucin, which distinguishes mucin from fluid ascites. The mucinous material is similar in density to water. There are also islands of higher attenuation due to scattered solid elements and calcification within mucinous material.


Anti-GD1b IgG antibody positivity

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


name: Anti-platelet antigen antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against antigens present on the surface of thrombocytes such as the glycoproteins GPIIb/IIIa, GPIb/IX, and GPIa/IIa.


Subependymal nodules

description: Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis.


Partially duplicated kidney

description: The presence of a partially duplicated kidney.


Abnormality of the skeletal system

description: An abnormality of the skeletal system.


Shoulder contracture

description: Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the shoulder joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.


distal arthrogryposis

description: A muscle tissue disease characterized by congenital joint contractures of hand and feet.


Abnormal thalamic MRI signal intensity

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


Self-cutting

description: Deliberate harm to one's body, in the form of cutting that results in tissue damage, without a conscious intent to die.


Oral aversion

description: Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing).


renal hypoplasia, bilateral

description: Bilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present.


name: Increased circulating NT-proBNP concentration

description: An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP).


Positive regitine blocking test

description: A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension.


Increased CSF tyrosine concentration

description: Abnormally increased levels of tyrosine in cerebrospinal fluid.


name: Elevated circulating glutarylcarnitine concentration

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


Myotonia of the lower limb

description: Slowed relaxation of muscles in the leg.


Right coronary artery ostial atresia

description: Absence of the normal opening of the coronary ostium from which the right main coronary artery originates.


name: Increased proportion of class-switched memory B cells

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


Partial absence of cerebellar vermis

description: Congenital absence of a part of the vermis of cerebellum.


Glomerular fibronectin deposits

description: Accumulation of fibronectin in the glomerulus.


Ivory epiphyses of the 5th toe

description: Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


name: Elevated urinary indoleacetic acid level

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


name: Reduced circulating octadecenoylcarnitine concentration

description: Concentration of octadecenoylcarnitine (C18:1 acylcarnitine) in the blood circulation below the lower limit of normal.


Aplasia/Hypoplasia of the bladder

description: Absence or underdevelopment of the urinary bladder.


Enlarged kidney

description: An abnormal increase in the size of the kidney.


name: Decreased low-density lipoprotein particle size

description: An abnormal decrease in the average size of low-density lipoprotein particle size in the blood circulation.


name: Elevated circulating lipoprotein X concentration

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


name: Duplication of the proximal phalanx of the 2nd finger

description: Partial or complete duplication of the second proximal phalanx of hand.


name: Partial duplication of the proximal phalanx of the hallux

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


Irregular respiration

description: Uneven rhythm of breathing.


name: Elevated circulating 5-oxoproline concentration

description: Concentration of L-pyroglutamic acid in the blood is above the upper limit of normal.


Reflex seizure

description: Seizures precipitated by exogenous stimuli.


Increased serum estriol

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


Tongue thrusting

description: Pressing forward of the tongue in the mouth, a retained motoric habit from infantile swallowing patterns


Aminoglycoside-induced hearing loss

description: Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics.


Increased CSF histidine concentration

description: Abnormally increased levels of histidine in cerebrospinal fluid.


Misalignment of the pulmonary veins

description: The term is commonly used to describe a putative abnormal location of pulmonary vein branches adjacent to pulmonary arteries within the same adventitial sheath. However, evidence has been provided that the vessels in question are not pulmonary veins, however represent dilated bronchial veins.


Pruritis on abdomen

description: Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the abdomen.


Dysplastic megalencephaly

description: A congenital brain malformation characterized by marked overgrowth and dysplasia affecting one or both cerebral hemispheres, and, in some cases, subcortical brain regions as well. The presence of dysplasia in dysplastic megalencephaly distinguishes it from other forms of generalized megalencephaly.


Broad toe

description: Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.


Glomerular capillary collapse

description: Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs).


Affective epileptic aura

description: Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.


Mandibular cyst

description: A closed sac that has developed in the lower jaw bone (mandibula) and contains fluid or semi-solid material.


Absence of memory B cells

description: Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin.


Single transverse palmar crease

description: The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.


Thoracocervical ectopia cordis

description: A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum.


Large vessel vasculitis

description: A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta.


Perioral radial furrowing

description: The presence of radial grooves in the skin surrounding the mouth (see Figure 4 of PMID:27833976).


name: Failure to increase oxygen saturation on hyperoxia test

description: Hyperoxia test is the initial method to distinguish critical congenital heart disease (CCHD) from pulmonary disease. The test consists in measuring an arterial blood gas at room air and 100% inspired oxygen after 10 minutes. Neonates with congenital heart disease are usually not able to increase PaO2 above 100 mm Hg during 100% oxygen administration. In patients with pulmonary disease, PaO2 generally increased greater than or equal to 100 mm Hg with 100% oxygen as ventilation-perfusion discrepancies are overcome. A positive result indicates the cardiac origin and further cardiac workup is indicated to rule out CCHD.


Failure of eruption of permanent teeth

description: Lack of tooth eruption of the secondary dentition.


Popliteal pterygium

description: A pterygium (or pterygia) occurring in the popliteal region (the back of the knee).


Sacral lipoma

description: Presence of a lipoma in the region of the sacrum.


Fallopian tube mass

description: A swelling or enlargment localized to the Fallopian tube. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.


name: Abnormal circulating organic compound concentration

description: Any deviation of the concentration of an orrganic compound from the normal range. An organic compound is defined as any compound that contains a carbon atom.


name: Elevated CSF 4-hydroxybutyric acid concentration

description: Abnormally increased level of 4-hydroxybutyric acid in the cerebrospinal fluid (CSF).


Short hallux

description: Underdevelopment (hypoplasia) of the big toe.


double outlet left ventricle

description: Double-outlet left ventricle (DOLV) is an extremely rare congenital cardiac malformation in which both the aorta and the pulmonary artery arise, either exclusively or predominantly, from the morphologic left ventricle.


name: Orthostatic hypotension due to autonomic dysfunction


Recurrent bacterial infections

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


Epiphyseal stippling of the metacarpals

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


Sterile abscess

description: An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms.


Venous malformation

description: A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region.


Abnormal penis morphology

description: Abnormality of the male external sex organ.


Hyperfibrinolysis

description: Increased degradation of fibrin, associated with clot instability and bleeding


Atypical gestures

description: Spontaneous production of communicative gestures that are perceived as odd or mechanical, or are poorly integrated with other means of communication. This may include inaccurate mimicry of typical gestures.


name: Elevated circulating erythritol concentration

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


Palmoplantar hyperkeratosis

description: Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.


Increased CSF valine concentration

description: Any increased amount from normal of valine in the cerebrospinal fluid.


name: Elevated fetal middle cerebral artery peak systolic velocity

description: Increased peak systolic velocity of the fetal middle cerebral artery (MCA) as evaluated by Doppler ultrasound.


Cytomegalovirus colitis

description: A form of cytomegalovirus infection characterized by infection and inflammation of the colon.


name: Conus terminalis arteriovenous malformation


Acidemia

description: An abnormally low blood pH (usually defined as less than 7.35).


Dystonic gait

description: Dystonic gait disorders frequently appear bizarre, particularly because activity increases dystonic tonus and posture. The abnormal posture of the foot in dystonic gait typically involves inversion, plantar flexion and tonic extension of the big toe. In many patients complex types of walking, such as walking backwards and running are paradoxically less impaired than walking forward and may seem completely unaffected. Sensory tricks, for instance, if the affected individual rests a hand on his or her neck, may improve or even normalize dystonic gait in some patients.


Cortical radial artery medial atrophy

description: Atrophy (wasting, decreased thickness) of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.


Abnormal hepatic glycogen storage

description: Change in normal glycogen storage content.


name: Elevated circulating D-dimer concentration

description: An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation.


Absent dermal elastic fibers

description: Elastic fibers not demonstrable in skin biopsy.


name: Abnormal circulating erythropoietin concentration

description: Any deviation from the normal concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.


Orthostatic tachycardia

description: An increase in heart rate with standing of 30 beats per minute or more.


fissured tongue

description: Accentuation of the grooves on the dorsal surface of the tongue.


Macrocephaly at birth

description: The presence of an abnormally large skull with onset at birth.


Generalized limb muscle atrophy

description: Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations.


Splinter hemorrhages

description: Thin, red to reddish-brown lines of blood (hemorrhages) under the nails. Splinter hemorrhages run vertically under the nails.


Onion bulb formation

description: Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.


Broad uvula

description: Increased width of the uvula (subjective finding).


name: Symphalangism affecting the proximal phalanx of the hallux


name: Reduced plasminogen activator inhibitor 1 activity

description: Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator.


Urinary oval fat bodies

description: The presence in the urine of desquamated tubular epithelial cells or macrophages filled with lipid droplets.


Abnormality of upper lip vermillion

description: An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin.


Diminished mental health

description: A reduction in the subjective feeling of mental well being.


name: Nonocclusive coronary artery atherosclerosis

description: Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries.


Preaxial polydactyly

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


Abnormal judgment

description: Beliefs that deviate from what is considered rational or within the range of normal human judgment and belief formation.


Abnormal descending aorta morphology

description: A structural abnormality of the part of the aorta that begins at the aortic arch and then descends through the chest and abdomen.


Panic attack

description: A sudden episode of intense fear in a situation where there is no danger or apparent cause.


Gingival hyperkeratosis

description: Hyperkeratosis of the gingiva.


Hypoplastic fifth toenail

description: Underdeveloped nails of the fifth toes.


Absent palmar crease

description: The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease).


Abnormal forebrain morphology

description: An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle.


Dilatation of renal calices

description: An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine.


name: Hyperintensity of cerebral white matter on MRI

description: A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter.


cervix erosion

description: Loss or destruction of the epithelial lining of the uterine cervix.


Unhappy demeanor

description: A noticeably unhappy disposition is characterized by negative assumptions, self-defeating talk, fear of failure, and negative rumination about past events.


Broad hallux

description: Visible increase in width of the hallux without an increase in the dorso-ventral dimension.


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

description: Partial or complete duplication of the distal phalanx of index finger.


Abnormal second toe morphology

description: An anomaly of the second toe.


Curved middle phalanx of the 5th toe

description: A deviation from the normal straight form of the middle phalanx of the fifth toe.


Pancreatic aplasia

description: Aplasia of the pancreas.


Swiss cheese atrial septal defect

description: Multiple defects in the atrial septum.


larynx atresia

description: A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation.


Small intestinal bleeding

description: Bleeding from the small intestine.


name: Increased theta frequency activity in EEG

description: Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution.


Abnormal HDL2b concentration

description: Any deviation from the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.


Spontaneous chorioamniotic separation

description: Persistence separation of the chorionic and amnionic membranes after the 16th week of gestation (not as a result of a procedure such as amniocentesis).


name: Recurrent bacterial upper respiratory tract infections

description: An increased susceptibility to bacterial upper respiratory tract infections as manifested by a history of recurrent bacterial upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).


name: Pancreatic intraductal papillary mucinous neoplasm

description: Intraductal papillary mucinous neoplasm (IPMN) is an exocrine neoplasm of the pancreas consisting of epithelial cells growing within the pancreatic ducts (main pancreatic duct or its major branches) and producing mucin. IPMN is a mucin-producing pancreatic cystic tumor. IPMN contains epithelial cells that can create papillary projections.


Boerhaave syndrome

description: A syndrome characterized by spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part.


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

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


Abnormal communication

description: Presence of any form of communication (e.g., verbal or non-verbal) that does not align with cultural expectations or developmental level.


Curved middle phalanx of the 2nd toe

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


brachydactyly

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


name: Complete duplication of the proximal phalanx of the 3rd toe

description: Complete duplication of proximal phalanx of third toe.


Aplasia of the lower vagina

description: A failure to develop of the lower part of the vagina.


Increased hepatic echogenicity

description: Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device.


name: Anomalous origin of left subclavian artery

description: Origin of the left subclavian artery from an anomalous anatomical location.


Discordant atrioventricular connection

description: Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart.


name: Partial duplication of the distal phalanx of the 2nd finger

description: Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx.


Calcium phosphate crystalluria

description: The presence of calcium phosphate crystals in the urine.


name: Fractured distal phalanx of pedal digit 3

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


Thyroid nodule

description: A nodular lesion that develops in the thyroid gland. The term "thyroid nodule" refers to any abnormal growth that forms a lump in the thyroid gland.


Recurrent pancreatitis

description: A recurrent form of pancreatitis.


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


rhabdoid tumor of the kidney

description: A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor.


Avulsion fractured tibia

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


Abnormal speech volume

description: Speech that is abnormally loud or quiet for the social context in which it is spoken.


Reduced amygdala volume

description: A decrease in the volume (size) of the amygdyla.


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


Decreased pulmonary fissure count

description: Lack of one or more of the normal pulmonary fissures.


name: Exaggerated rugosity of the labia majora

description: Marked rugae formation of the skin of the labia majora.


Anorectal abscess

description: An abscess located at the junction of the anal canal and the rectum.


Reduced C-peptide level

description: A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion.


name: Increased circulating thyroglobulin concentration

description: An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.


Temporal cortical atrophy

description: Atrophy of the temporal cortex.


Phenylalaninuria

description: Increased level of phenylalanine in urine.


Elevated urinary butyric acid level

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


Visceral hallucination

description: A type of hallucination that involves the perception of internal bodily sensations or processes that do not actually exist.


Abnormal sperm mid-piece morphology

description: A structural abnormality of the sperm mid-piece.


name: Decreased circulating parathyroid hormone level

description: An abnormally decreased concentration of parathyroid hormone.


Vertebral artery calcification

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


Enlarged tectum

description: Increasaed size of the tectum, which is the region of the midbrain posterior to the cerebral aqueduct of Sylvius. The midbrain is the most superior portion of the brainstem.


Pulmonary valve defects

description: Any defect in the valve connecting the heart and the pulmonary artery.


Bradypnea

description: Bradypnea is referring to breathing that is abnormally slow.


Cardiac teratoma

description: A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumor size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone.


Triplomyelia

description: Triplication of the spinal cord - extremely rare.


Penile thrush

description: Overgrowth of candida albicans in the penis.


name: Impaired collagen-induced platelet aggregation

description: Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics.


Follicular hyperkeratosis

description: A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.


Abnormal adiponectin level

description: A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism.


name: Fibrillar glomerular subepithelial deposits

description: Fibrillar deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate).


Aplasia cutis congenita of scalp

description: A developmental defect resulting in the congenital absence of skin on the scalp.


Inability to walk

description: Incapability to ambulate.


name: Focal aware emotional seizure with crying

description: Focal emotional seizure with crying (dacrystic)in which awareness is retained throughout.


Ovarian torsion

description: Ovarian torsion is a twisting of the ligaments that support the adnexa, cutting off the blood flow to the ovary.


Absent pulse

description: The pulsation of an artery where the pulse is taken (e.g. the radial artery at the wrist) cannot be detected on physical examination.


name: Left aortic arch with isolated subclavian artery

description: The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis.


name: Abnormal circulating C-reactive protein concentration

description: Any deviation from the normal concentration of C-reactive protein in the blood circulation.


Temporal lobe calcification

description: The presence of calcium deposition within the temporal lobe of the brain.


ST segment depression

description: An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line.


name: Decreased circulating dihydrotestosterone concentration

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


congestive splenomegaly

description: A chronic congestive enlargement of the spleen leading to the destruction of blood cells resulting in pancytopenia.


Fractured forearm bones

description: Bone fracture in the radius, ulna, or wrist.


name: Multinucleation of renal tubular epithelial cells

description: Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view.


Sertoli cell-only phenotype

description: A histological phenotype observed on testicular biopsy in which only Sertoli cells line the seminiferous tubules of the testis.


name: Positive fecal Clostridium botulinum test

description: Identification of Clostridium botulinum toxin in the feces.


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


Decreased acrosin in sperm head

description: A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process.


name: Elevated circulating hydroxyphenlyllactic acid concentration

description: An increased concentration of 4-hydroxyphenlyllactic acid in the blood circulation.


Increased serum zinc

description: An increased consentration of zinc in the blood.


Aplasia of the sweat glands

description: Absence of the sweat glands.


Ileal atresia

description: An abnormal closure, or atresia of the tubular structure of the ileum.


Torsion of appendix of testis

description: The appendix testis or hydatid of Morgagni, is a vestigial remnant of the Müllerian duct located on the superior pole of the testicle between the testis and epididymis. Although this appendage has no vital function, it is present in 50% of males. Torsion of twisting of this vestigial remnant can be incredibly painful, but usually requires no medical intervention.


name: Elevated circulating C6 acylcarnitine concentration

description: Concentration of C6 acylcarnitines in the blood circulation above the upper limit of normal. C6 acylcarnitines have a six-carbon acyl chain.


Microphallus

description: Length of penis more than 2 SD below the mean for age accompanied by hypospadias.


Arterial occlusion

description: Blockage of blood flow through an artery.


Abnormal platelet aggregation

description: An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.


name: Increased level of methylsuccinic acid in urine

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


Thinking-induced seizure

description: Seizures induced by thinking and decision-making.


Clonic seizure

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


Glomerular capillary wire loop deposits

description: Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop.


Increased urinary glycerol

description: An increased concentration of glycerol in the urine.


Increased overbite

description: Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm.


name: Elevated CSF guanidinoacetic acid concentration

description: The concentration of guanidinoacetic acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Vaginal bleeding during sex

description: Bleeding during sex.


brachydactyly type D

description: A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has material basis in mutation in the HOXD13 gene on chromosome 2q31.1.


Pressured speech

description: There has been an increase in the amount of spontaneous speech, which is generally continuous, rapid, loud, and difficult to interrupt. It may sometimes be incoherent and continue even when no one is listening.


Abnormality of the urinary system

description: An abnormality of the urinary system.


Decreased liver function

description: Reduced ability of the liver to perform its functions.


Non-necrotizing granuloma

description: A granuloma which is not associated with necrotic changes.


Reactive hypoglycemia

description: Hypoglycermia following a meal (or more generally, after intake of glucose).


name: Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio

description: The relative concentration of tetrahydrocortisol plus 5-alpha-tetrahydrocortisol relative to that of tetrahydrocortisone is below the lower limit of normal.


Fetal trigonocephaly

description: A fetal ultrasound finding defined by flattening of the occiput with pointing of the frontal bones and brachycephaly with an increased cephalic index. It is characterized by keel shaped deformity of forehead with midline ridge, bilateral fronto temporal constriction with compensatory biparietal expansion, supra orbital and lateral orbital retrusion and hypotelorism. This finding is said to resemble a strawberry.


Prominent median palatal raphe

description: Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate.


name: Increased urine pentacarboxylporphyrin level

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


Cutaneous amyloidosis

description: The presence of amyloid deposition in the superficial dermis.