Malaligned philtral ridges

description: Absence of the usual parallel position of philtral ridges.


name: Sonographic non-visualized fetal bladder

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

description: Inability to visualize the fetal bladder on targeted prenatal sonography examination. The fetal bladder can be visualized with sonography as a midline, fluid-filled structure in the pelvis as early as 10-12 weeks of gestation. The normal fetus voids at least once an hour but never completely empties the urinary bladder. The fetal bladdder should be consistently imaged after 13 weeks of gestation.


Shoulder adduction contracture

description: A type of shoulder contracture characterized by a chronic reduction in the active and passive ability to abduct the shoulder. This results in the shoulders being closer to midline. The affected individual is not able to position the shoulders away from the body.


Abnormal glucagon level

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


Shuffling gait

description: A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground.


Hazardous alcohol use

description: Hazardous drinking is defined as a quantity or pattern of alcohol consumption that places individuals at risk for adverse health events. This could include alcohol use despite potentially hazardous or risky consequences, such as operating heavy machinery or drunk driving.


Neck pterygia

description: Pterygia affecting the neck.


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

description: Complete duplication of the distal phalanx of index finger.


Focal aware pedal automatism seizure

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


Hypoplastic fifth fingernail

description: A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger.


neoplasm

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

description: A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias.


univentricular heart

description: Univentricular heart (UVH) is a severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities.


Tall stature

description: A height above that which is expected according to age and gender norms.


name: Focal impaired awareness hemiclonic seizure

description: A focal hemiclonic seizure in which awareness is impaired at some point during the seizure.


Asparaginuria

description: An increased concentration of asparagine in the urine.


name: Impaired visually enhanced vestibulo-ocular reflex

description: The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR).


name: Absent bronchoalveolar surfactant-protein C

description: Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseases, pathogenetically related to the alveolar surfactant region.


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


Bifid uterus

description: The presence of a bifid uterus.


Lower limb undergrowth

description: Leg shortening because of underdevelopment of one or more bones of the lower extremity.


Progressive bowing of long bones

description: Progressive bending or abnormal curvature of a long bone.


Long fibula

description: Disproportionately long fibulae.


name: Abnormal salivary metabolite concentration

description: Any deviation from the normal concentration of a metabolite in saliva.


Abnormal QRS voltage

description: Abnormal amplitude of the QRS complex of the electrocardiogram (EKG).


name: Elevated circulating oleylcarnitine concentration

description: Increased concentration of oleylcarnitine in the blood circulation.


name: Elevated circulating cholesterol sulfate concentration

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


Penile freckling

description: Multiple pigmented macules located on the skin of the penis.


Anti-Ro/SS-A antibody positivity

description: The presence of autoantibodies in the blood circulation that react against Ro/SSA autoantigens.


hypertrophic cardiomyopathy 1

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.


name: Irregular septal thickening on pulmonary HRCT

description: Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture.


Fractured epiphysis

description: A partial or complete breakage of the epiphysis.


Abnormality of palatoglossus muscle

description: An abnormality of a palatoglossus muscle.


name: Contracture of the metatarsophalangeal joint of the 4th toe

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


Bowel urgency

description: A sudden, irresistible need to have a bowel movement.


Abnormal 3rd finger morphology

description: An anomaly of the third finger.


description: The presence of autoantibodies (immunoglobulins) in the serum that react against glycoprotein-210.


Sclerosis of 3rd toe phalanx

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


name: Cone-shaped epiphyses of the distal phalanges of the hand


Abnormality of joint mobility

description: An abnormality in the range and ease of motion of joints across their normal range.


Transient decreased circulating IgG2

description: A temporary reduction beneath the normal level of total immunoglobulin G2 (IgG2) in the blood circulation.


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

description: Complete duplication of the distal phalanx of middle finger


Abnormally ossified vertebrae

description: An abnormality of the formation and mineralization of one or more vertebrae.


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


name: Reduced hepatic D-glycerate kinase activity

description: Activity of D-glycerate kinase in the liver below the lower limit of normal.


Unilambdoid synostosis

description: Premature synostosis of only one lambdoid suture.


Accumulation of muscle fiber myotilin

description: Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy.


Negativism

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


Synostosis of thumb phalanx

description: Fusion of a phalanx of the thumb with another bone.


Abnormal sperm neck morphology

description: A structural abnormality of the sperm neck.


name: Elevated circulating beta-mannosidase activity

description: Activity of the enzyme beta-mannosidase above the upper limit of normal. Beta-mannosidase is a lysosomal enzyme that catabolizes oligosaccharides.


name: Enlarged epiphysis of the 1st metacarpal

description: Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms.


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.


name: Sclerotic humeral metaphysis with longitudinal striations


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.


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


Small hypothenar eminence

description: Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence.


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.


name: Abnormality of the middle phalanx of the 4th finger


Low tissue ferrochelatase activity

description: Concentration or activity of Ferrochelatase (FECH; EC 4.99.1.1) below the lower limit of normal. FECH enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. FECH is the terminal enzyme of the heme biosynthetic pathway, and catalyzes the insertion of iron into protoporphyrin to form heme.


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.


Amyotrophy of ankle musculature

description: Atrophy of the muscles of the ankle.


Occipital cortical atrophy

description: Atrophy of the occipital cortex.


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.


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.


Large earlobe

description: Increased volume of the earlobe, that is, abnormally prominent ear lobules.


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.


Hypoplastic distal radial epiphyses

description: Underdevelopment of the distal epiphysis of the radius.


Thin calvarium

description: The presence of an abnormally thin calvarium.


Limited shoulder movement

description: A limitation of the range of movement of the shoulder joint.


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.


tetralogy of fallot

description: Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.


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.


name: Reduced circulating 6-pyruvoyltetrahydropterin synthase activity

description: The activity of 6-pyruvoyltetrahydropterin synthase in the blood circulation is below the lower limit of normal.


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.


skin vascular disease

description: A disease that involves the superficial vasculature.


Juxtaphrenic peak

description: A juxtaphrenic peak is a small triangular opacity based at the apex of the dome of a hemidiaphragm, associated with upper lobe volume loss of any cause (eg, postirradiation fibrosis or upper lobectomy). It is most readily appreciated on a frontal chest radiograph. The peak is caused by upward retraction of the inferior accessory fissure or an intrapulmonary septum associated with the pulmonary ligament.


Abnormality of the incus

description: An abnormality of the incus, an ossicle in the middle ear.


Aplasia/hypoplasia of the extremities

description: Absence (due to failure to form) or underdevelopment of the extremities.


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: Triangular epiphyses of the distal phalanges of the hand


Glenoid fossa hypoplasia

description: Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus.


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

description: A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.


name: Focal 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.


Positive urine methadone test

description: Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in urine.


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.


Vascular malformation of the lip

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


Multiple rib fractures

description: More than one fracture of the ribs. Callus formation around multiple rib fractures can produce a row of multiple rounded expansions (beadlike prominences) giving the appearance of beaded ribs. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib.


Duplicate uterine cervix

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


Increased head circumference

description: An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart.


name: Abnormal muscle tissue metabolite concentration


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.


Herniation of intervertebral nuclei

description: The presence of one or more herniated nucleus pulposus of intervertebral disk.


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: Elevated mitochondrial citrate synthase synthase activity

description: Activity of the enzyme mitochondrial citrate synthase (EC:2.3.3.1) in muscle tissue is above the upper limit of normal.


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.


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.


Continuous diaphragm sign

description: This sign is seen in pneumomediastinum in which air accumulates between the lower border of the heart and the superior part of the diaphragm, which results in complete visualization of the diaphragm in chest X-ray, hence named continuous diaphragm sign.


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.


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.


name: Decreased circulating complement C5 concentration

description: Concentration of the complement component C5 in the blood circulation below the lower limit of normal.


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.


Crus of helix connected to antihelix

description: Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix.


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.


Overfolded helix

description: A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.


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.


Pseudoepiphysis of the 4th metacarpal

description: The normal epiphysis of the fourth metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.


Complete duplication of phalanx of hand

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


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.


name: Abnormality nasal septum cartilage morphology

description: An abnormality of a cartilage of nasal septum.


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.


name: Elevated intestinal alkaline phosphatase

description: An abnormally increased level of alkaline phosphatase, intestinal type in the blood.


name: Small epiphysis of the proximal phalanx of the 3rd finger

description: Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms.


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.


Absent epiphyses of the 2nd finger

description: Absence of the epiphyses of the 2nd finger.


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.


Anti-Dengue virus antibody positivity

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


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.


Abnormal morphology of ulna

description: Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger.


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.


name: CNS vasculitis with reactivation of varicella-zoster virus

description: A vasculopathy in the central nervous system (CNS) following reactivation of varicella-zoster virus due to a productive viral infection of both large and small cerebral arteries.


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.


name: Persistent human papillomavirus infection

description: Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease.


name: Delayed closure of the anterior fontanelle

description: A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.


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.


Emotional blunting

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


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.


name: Pseudoepiphysis of the distal phalanx of the 4th finger

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


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.


Abnormal fibula morphology

description: An anomaly of the calf bone (fibula), one of the two bones of the calf.


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.


Enlarged epiphyses of the 5th finger

description: Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms.


Increased hepatic glycogen content

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


Metacarpophalangeal synostosis

description: Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint.


name: Aplasia involving bones of the upper limbs


name: Triangular epiphysis of the proximal phalanx of the 3rd finger

description: A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.


Decreased CSF amyloid concentration

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


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.


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


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: Bullet-shaped distal phalanx of the 5th finger

description: Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected.


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.


Bilateral ulnar hypoplasia

description: Underdevelopment of the ulna on both sides.


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.


Limited pronation/supination of forearm

description: A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation).


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


Enlarged joints

description: Increase in size of one or more joints.


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: Abnormality of the epiphyses of the 3rd finger

description: Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger.


name: Decreased urinary catecholamine concentration


Paramedian facial cleft

description: A type of facial cleft located near to but not directly on the midline of the face.


Abnormal Langerhans cell morphology

description: Any functional anomaly of Langerhans cells, which are dendritic cells in the epidermis and some other locations. Langerhans cells play roles in immune surveillance and homeostasis.


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.


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.


Increased blood drug concentration

description: High plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime.


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.


Triceps hyperreflexia

description: Increased intensity of the triceps reflex.


Brachioradialis hyporeflexia

description: Reduced intensity of the brachioradialis tendon reflex.


name: Bracket epiphysis of the proximal phalanx of the 3rd finger

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


Costochondral joint sclerosis

description: Abnormal increase in density of the tissue at the costochondral junctions.


True ependymal rosette

description: A type of rosette in which a halo of cells surrounds an empty lumen.


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.


High insertion of columella

description: Insertion of the posterior columella superior to the nasal base.


name: Elevated circulating alpha-L-fucosidase activity

description: Activity of the enzyme alpha-L-fucosidase above the upper limit of normal.


name: Abnormal circulating interferon concentration

description: The concentration of an interferon is outside the limits of normal.


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.


Elongated temporal styloid process

description: The length of the temporal styloid process is above the upper limit of normal. The styloid process is a cylindrical, slender, needle-like projection of varying lengths averaging 2 to 3 cm. The styloid process projects from the inferior part of the petrous temporal bone and offers attachment to the stylohyoid ligament and the stylohyoid, stylopharyngeus, and styloglossus muscles.


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).


Rib spur

description: A bony projection (spur, osteophyte) originating from a rib.


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.


name: Small epiphyses of the phalanges of the hand

description: Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.


name: Reduced circulating interferon gamma concentration

description: A reduction in the concentration of interferon gamma measured 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.


name: Pseudoepiphysis of the proximal phalanx of the 4th finger

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


name: Anti-Epstein-Barr virus-specific antibody positivity

description: The presence of antibodies in the blood circulation that react against a component of the Epstein Barr virus (EBV).


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.


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.


name: Aplasia of the proximal phalanx of the 4th finger

description: Absence of the proximal phalanx of the ring (4th) finger.


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.


name: Reduced hepatic glyoxylate reductase activity

description: Activity of glyoxylate reductase/hydroxypyruvate reductase (GRHPR; EC 1.1.1.79) in liver below the lower limit of normal.


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.


Stippled chondral calcification

description: Punctate (speckled, dot-like) deposition of calcium of calcium salts in the articular cartilage (cartilage located in joints).


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.


name: Abnormal activity of mitochondrial respiratory chain

description: An increased or decreased activity of the mitochondrial respiratory chain.


Aplasia of metacarpal bones

description: Developmental defect associated with absence of one or more metacarpal bones.


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.


parasomnia, sleepwalking type

description: A disorder in which a series of complex behaviors are initiated during slow-wave (non-REM) sleep and result in walking during sleep. It is a parasomnia, defined as a clinical disorder resulting in undesirable physical phenomena that occur predominantly during sleep. Parasomnias are not abnormalities of the processes responsible for sleep and wake states. Sleepwalking is more common in childhood (up to 26%), and usually resolves in adolescence; however, it can persist into adulthood (3%).


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.


Post-vaccination yellow fever

description: Infection with the yellow fever virus of the live-attenuated vaccine.


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.


name: Anti-Zinc transporter 8 antibody positivity

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


Abnormal cochlea morphology

description: An abnormality of the cochlea.


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.


Pseudoepiphysis of the 1st metacarpal

description: The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal.


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.


Triangular epiphyses of the metacarpals

description: A triangular appearance of the epiphyses of the metacarpals. Thess epiphyses are located at the distal end of the metacarpals.


Parietal bossing

description: Parietal bossing is a marked prominence in the parietal region.


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.


name: Decreased phosphoribosylpyrophosphate synthetase level

description: Abnormally reduced level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.


name: Decreased circulating acid maltase activity

description: Activity of the enzyme acid maltase (also known as alpha-1,4-glucosidase) below the lower limit of normal.


Bronchial hemorrhage

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


name: Reduced tissue argininosuccinate synthetase activity

description: Concentration of argininosuccinate synthetase (EC 6.3.4.5) in body tissues is below the lower limit of normal. Clinically, argininosuccinate synthetase is measured in the liver or in cultered skin fibroblasts.


Paroxysmal lethargy

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


name: Erlenmeyer flask deformity of the femurs

description: Flaring of distal femur.


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.


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.


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.


Reduced T cell CD40 expression

description: A deficiency in the expression of the CD40 ligand on the surface of activated T-lymphocytes.


Severe norovirus infection

description: An unusually severe course of infection with Human norovirus, previously known as Norwalk virus. Norovirus, an RNA virus of the family Caliciviridae, is a human enteric pathogen. Norovirus infection-associated illness may also be more prolonged and severe in immunocompromised individuals and may be associated with remarkably persistent viral excretion in some of these individuals.


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).


Beaded septum sign

description: Irregular and nodular thickening of interlobular septa reminiscent of a row of beads.


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.


Spinal cord compression

description: External mechanical compression of the spinal cord.


name: Focal aware motor seizure with dysarthria/anarthria

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


Abnormal urinary sulfate concentration

description: Abnormal concentration of sulfate in the urine.


Absence of ganglioside GM3

description: The absence of ganglioside GM3.


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.


Susceptibility to coronavirus 229e

description: Increased susceptibility to coronavirus 229e, as manifested by recurrent episodes of coronavirus 229e.


Multiple mitochondrial DNA deletions

description: The presence of multiple deletions of mitochondrial DNA (mtDNA).


Anomaly of the upper limb diaphyses

description: A structural abnormality of a diaphysis of the arm.


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.


Superior mediastinal mass

description: A type of mediastinal mass that is located above the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4).


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).


name: Reduced acetylglucosamine-6-sulfate sulfatase activity in cultured fibroblasts

description: Concentration or activity of N-acetylglucosamine-6-sulfatase (EC 3.1.6.14) as measured in cultured fibroblasts is below the limits of normal. N-acetylglucosamine-6-sulfatase hydrolyzes heparan sulfate and keratan sulfate.


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.


name: Snapping sensation at metacarpophalangeal joint

description: A feeling of clicking or snapping at the knuckle (metacarpophalangeal joint) upon extension of flexion of the finger.


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.


Satyr ear

description: Sharp pointed superior portion of the ear, with variable overfolding of the helix.


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.


Recurrent Aspergillus infections

description: An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections.


Small hand

description: Disproportionately small hand.


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.


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


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.


malignant ear neoplasm

description: A malignant neoplasm that affects the ear. Representative examples include ceruminous adenocarcinoma and squamous cell carcinoma of the external ear and adenocarcinoma of the middle ear.


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.


name: Abnormal circulating interleukin 12 concentration

description: Any deviation from the normal range of the concentration of interleukin 12 in the blood circulation.


Narrow greater sciatic notch

description: A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.


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.


name: Delayed pneumatization of the mastoid process

description: An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms.


Prominent stem of antihelix

description: Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix.


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.


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.


Absent proximal phalanx of thumb

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


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.


Delayed ossification of carpal bones

description: Ossification of carpal bones occurs later than age-adjusted norms.


Abnormality of chromosome segregation

description: An abnormality of chromosome segregation.


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.


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 occipital bone morphology

description: Abnormality of the occipital bone of the skull.


Abnormal erythrocyte sedimentation rate

description: A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling.


Abnormal zona pellucida morphology

description: Abnormal structure of the oocyte extracellular matrix region known as teh zona pellucida.


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).


Stiff finger

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


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.


name: Small epiphyses of the middle phalanges of the hand


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.


Anti-cryptococcal antibody positivity

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


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.


Prominent antihelix

description: The presence of an abnormally prominent antihelix.


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.


Delayed femoral head ossification

description: Delayed ossification of the femoral head.


Long proximal phalanx of finger

description: Increased length of the proximal phalanx of finger.


Tongue thrusting

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


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.


name: Elevated circulating pancreatic secretory trypsin inhibitor activity

description: Increased activity of the enzyme pancreatic secretory trypsin inhibitor in the blood circulation.


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.


Reduced muscle fiber lamin A/C

description: A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry or Western blotting of muscle tissue.


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.


name: Sacralization of the fifth lumbar vertebra

description: A congenital anomaly, in which the transverse process of the last lumbar vertebra (L5) fuses to the sacrum on one side or both, or to ilium, or both.


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.


Absent ossification of calvaria

description: Acalvaria is an extremely rare congenital malformation characterized by an absence of flat bones of skull, dura mater, and associated muscles in the presence of normal cranial contents and facial bones.


name: Curved proximal phalanx of the 3rd finger

description: Curved appearance of the proximal phalanx of the 3rd finger.


name: Orthostatic hypotension due to autonomic dysfunction


Abnormal residual volume

description: Any deviation from normal values of the residual volume, which is defined as the volume of air left in the lungs at the end of maximal expiration (ie. the volume of air which you cannot voluntarily exhale from your lungs).


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.


Abnormal penis morphology

description: Abnormality of the male external sex organ.


Delayed elbow epiphyseal ossification

description: A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow.


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.


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.


name: Conus terminalis arteriovenous malformation


Abnormal femoral torsion

description: Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range.


porokeratosis

description: A clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella.


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.


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