name: Osteolytic defects of the phalanges of the 5th finger

description: Dissolution or degeneration of bone tissue of the phalanges of the 5th finger.


neoplasm of middle ear

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

description: A neoplasm (disease) that involves the middle ear.


Reduced maximal inspiratory pressure

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

description: A decrease in the maximum amount of negative pressure a person can generate during an inhalation.


pleural empyema

description: The presence of pus in the thoracic cavity, between the visceral and parietal pleura.


Early chronotype

description: A tendency towards rising very early in the morning and going to bed early in the evening.


Gallbladder perforation

description: Rupture of the wall of the gallbladder.


Paraparesis

description: Weakness or partial paralysis in the lower limbs.


Adversive status epilepticus

description: A type of focal motor status epilepticus characterized by continuous neck or body rotation and conjugate gaze deviation in a direction contralateral to the responsible epileptic focus. This includes some forms of tonic status epilepticus.


Rib osteolysis

description: Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to a rib.


Oculoclonic status epilepticus

description: A type of focal motor status epilepticus characterized by repetitive and rapid saccades, in association with epileptic discharges.


Long ear

description: Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear.


Positive urine benzodiazepines test

description: Detection of benzodiazepine metabolites, primarily nordiazepam, oxazepam, and temazepam, in urine.


Degenerative liver disease

description: The presence of degenerative changes of the liver.


Amniotic constriction rings of arms

description: Amniotic constriction rings affecting the arms.


Abnormal urinary color

description: An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color.


Abnormal lip pigmentation

description: Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal.


Peritoneal abscess

description: The presence of an abscess of the peritoneum.


Hemorrhagic ovarian cyst

description: An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst.


name: Abnormality of the epiphyses of the 3rd toe


Hyperpigmented nodule

description: A nodule of the skin that exhibits an increased amount of pigmentation.


Asymmetrical gluteal crease

description: The presence of an asymmetrical gluteal crease, the horizontal crease formed by the inferior aspect of the buttocks and the posterior upper leg.


Decreased HDL3a concentration

description: A reduction below the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.


name: Progressive extrapyramidal movement disorder


description: Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units).


name: Multifocal cerebral white matter abnormalities


Meckel diverticulum

description: A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction.


Abnormality of the hepatic vasculature

description: An abnormality of the hepatic vasculature.


Pericardial lymphangiectasia

description: An abnormal dilatation of lymph vessels in the pericardium.


Proximal aortic arch hypoplasia

description: A type of aortic arch hypoplasia whereby the proximal aortic arch (arch proximal to the origin of the left subclavian artery) has a diameter of less than 60% of the diameter of the ascending aorta.


Hyperphalangy of the 2nd finger

description: An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy.


name: Abnormality of the epiphysis of the proximal phalanx of the hallux

description: In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux.


Enlarged mesenteric lymph node

description: Increase in size of one or more mesenteric lymph nodes.


Abnormal renal insterstitial morphology

description: Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid.


Anti-factor V antibody positivity

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


name: Increased anti-plant based food allergen IgE antibody level

description: Increased level of IgE antibody against a plant based food allergen, including vegetables and fruits.


name: Grade II preterm intraventricular hemorrhage

description: Intraventricular hemorrhage that occurs in a preterm infant and that has extension into normal-sized ventricles and typically fills less than 50% of the volume of the ventricle.


Tectal plate enlargement

description: Abnormal increase in size of the tectal plate (also known as the tectum or the quadrigeminal plate). The tectum is the dorsal portion of the midbrain (brainstem).


description: Increased plasma vitamin K epoxide after vitamin K supplementation is present in VKCFD (vitamin K-dependent clotting factor deficiency) type 2, but not in VKCFD type 1.


name: Decreased pituitary glycoprotein hormone alpha subunit level

description: An reduced concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081).


Pyriform sperm head

description: Pyriform spermatozoa consist of a normally shaped acrosomal structure which can be normal in size or enlarged, while the post-acrosomal region shows severe elongation and an acute narrowing to the posterior end, ending in about the same thickness as the connecting mid-piece.


Reduced muscle fiber alpha sarcoglycan

description: A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy.


Absence of pectoralis minor muscle

description: Aplasia (congenital absence) of the pectoralis minor.


Socially inappropriate behavior

description: Behavior that is not in line with social norms.


Epiphyseal stippling of toe phalanges

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


name: Focal aware sensory seizure with hot-cold sensations

description: A seizure characterized by sensations of feeling hot and then cold.


tricuspid atresia

description: Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV).


name: Elevated bronchoalveolar lavage fluid eosinophil proportion

description: Usually, eosinophils make up less than 0.5% of all cells found in the broncho-alveloar lavage fluid. But in eosinophilic lung disease, the eosinophil cell proportion typically represents more than 25%. Comment: An elevated level of eosinophil cells are also a result of infections, or an allergic reaction or can be drug-induced.


Aortic elastic fiber disorganization

description: Nonparallel arrangement/disarray of elastic fibers of the media of the aorta as identified on a stain for elastic fibers.


name: Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia

description: A focal cognitive seizure with conduction dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.


Absent zona pellucida

description: Lack of the oocyte extracellular matrix region (zona pellucida). This feature can be observed following follicular aspiration (retrieval of eggs for fertility treatments).


name: Apically displaced anterolateral papillary muscle

description: Abnormal location of the insertion of the anterolateral papillary muscle near to the apex of the left ventricle. This feature may be appreciated by noting that this muscle is usually not seen in the apical level of the parasternal short-axis echocardiographic view,


name: Elevated circulating C-reactive protein concentration

description: An abnormal elevation of the C-reactive protein level in the blood circulation.


Anti-SEZ6L2 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against seizure-related 6 homolog like 2 (SEZ6L2).


Pulmonary infiltrates

description: A finding indicating the presence of an inflammatory or neoplastic cellular infiltrate in the lung parenchyma.


name: Increased circulating procalcitonin concentration

description: An elevated concentration of procalcitonin in the blood circulation.


Broad nail

description: Increased width of nail.


subvalvular aortic stenosis

description: An aortic stenosis caused by fibromuscular stenosis or hypertrophic cardiomyopathy. It may be associated with congenital heart defects.


Elevated CSF neopterin level

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


Abdominal rigidity

description: Involuntary tightening of the abdominal musculature that occurs in response to touching the abdomen to avoid pain. Rigidity can occur in the presence of abdominal inflammation and usually involves only the inflamed area.


name: Increased non-HDL cholesterol concentration

description: Increase above normal levels of non-HDL cholesterol in the blood. Non-HDL cholesterol is total cholesterol minus high-density lipoprotein HDL-cholesterol (high-density lipoprotein-cholesterol).


Polyclonal elevation of circulating IgG

description: An increase in polyclonal immunoglobulins resulting from many different plasma cells. On serum electrophoresis, a polyclonal gammopathy is characterized by a broad diffuse band with one or more heavy chains and kappa and lambda light chains.


name: Triangular shaped phalanges of the 2nd toe


Splenopancreatic fusion

description: Fusion of the pancreatic tail and spleen.


name: Favorable response of weakness to acetylcholine esterase inhibitors

description: Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.


Cerebral contusion

description: A contusion is a region of injured tissue in which blood capillaries have been ruptured without laceration (bruise). Brain contusions are bruises of the cortical surface that damage the surface from the outside inward, producing disruption of tissue and vessels. The term cerebral contusion describes the pathology of focal necrosis and hemorrhage, typically observed in older children, involving particularly cerebral cortex and subcortical white matter. Such lesions are usually found in coup and contrecoup, as well as inferior orbital, frontal, and temporal locations. Cerebral contusions cause permanent damage to tissues of the cerebrum. The etiology of cerebral contusion is trauma to the head.


split foot

description: A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.


Hamartoma of tongue

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


name: Increased sulfur amino acid level in urine

description: An elevated level of a sulfur-containing amino acid in the urine.


name: Osteolytic defects of the proximal phalanx of the 2nd finger

description: Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger.


Small flat posterior fossa

description: An abnormally small and flat configuration of the posterior cranial fossa.


Pulmonary parenchymal band

description: A parenchymal band is a linear opacity, usually 1-3 mm thick and up to 5 cm long that usually extends to the visceral pleura (which is often thickened and may be retracted at the site of contact). It reflects pleuroparenchymal fibrosis and is usually associated with distortion of the lung architecture. Parenchymal bands are most frequently encountered in individuals who have been exposed to asbestos.


Absent otoacoustic emissions

description: Failure to record otoacoustic emissions (OAE), i.e., sounds generated from the cochlea in response to an acoustic stimulus and transmitted across the middle ear to the external ear canal.


Anti-Ki antibody positivity

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


name: Focal aware cognitive seizure with forced thinking

description: A focal cognitive seizure with forced thinking characterized by retained awareness throughout the seizure.


Perianal anethesia

description: Loss of sensation to the area of buttocks, perianal space and thighs.


EEG with parietal focal spike waves

description: EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.


Craniofacial asymmetry

description: Asymmetry of the bones of the skull and the face.


Wide ulnar metaphysis

description: Increase in width (breadth) of the ulnar metaphysis.


Abnormal blood carbon dioxide level

description: An abnormality of carbon dioxide (CO2) in the arterial blood.


Ankle clonus

description: Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.


Decreased serum estriol

description: A reduction below normal limits of estriol in the circulation.


Agenesis of permanent teeth

description: A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.


Acantholysis

description: The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.


name: Neonatal seizure with electrographic correlate

description: Neonatal seizure is a seizure type that occurs in neonatal period and is characterized by an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end. This event can be associated or not with a clinical manifestation.


Arcuate artery intima/media amyloidosis

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


Partial IgA deficiency

description: Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means.


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


Abnormal tricuspid valve morphology

description: Any structural anomaly of the tricuspid valve.


Antenatal intracerebral hemorrhage

description: Cerebral hemorrhage that occurs before birth.


Hypoplasia of the calcaneus

description: Underdevelopment of the heel bone.


Abnormal breath sound

description: An anomalous (adventitious) sound produced by the breathing process.


Absent nasal cartilage

description: Lack of a palpable nasal cartilage.


Fractured ankle

description: A fracture or multiple fractures of one or more of three bones in the ankle joint: the tibia (shinbone), the fibula (outer ankle bone), and the talus (which is the bone that connects your leg to your foot).


Projectile vomiting

description: Vomiting that ejects the gastric contents with great force.


Elevated urinary succinylacetone level

description: Presence in the urine of succinylacetone, which is one of the toic block metabolites formed in tyrosinaemia type 1 because of a defect in the final enzyme of the pathway of the degradation of tyrosine, namely fumarylacetoacetase (FAH, EC 3.7.1.2).


Jejunal arteriovenous malformation

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


Right ventricular aneurysm

description: A localized, abnormal dilation or bulging of a portion of the right ventricular wall.


Aplasia of the upper vagina

description: A failure to develop of the upper vagina.


Zygotic cleavage failure

description: Failure of a fertilized oocyte to undergo the first round of cell division.


Limitation of knee mobility

description: An abnormal limitation of knee joint mobility.


Supraglottic hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, located in the upper part of the larynx (voice box) including the epiglottis; the area above the vocal cords.


Citrullinuria

description: An increased concentration of citrulline in the urine.


Abnormal preputium morphology

description: An abnormality of the retractable fold of skin that covers the tip of the penis.


name: Aplasia of the proximal phalanx of the 3rd finger

description: Absence of the proximal phalanx of the 3rd finger.


Toe dactylitis

description: Toes appear swollen and plump owing to inflammation of the complete toe.


name: Elevated circulating plasminogen activator inhibitor 1 activity

description: The activity or concentration of plasminogen activator inhibitor-1 in the blood circulation is above the upper limit of normal.


Absent muscle fiber delta sarcoglycan

description: Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy.


description: Triangular shaped phalanges of the 3rd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Fused lips

description: Lack of separation of the upper and lower lips.


name: Abnormal morphology of the olfactory bulb

description: An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell.


Bullet-shaped 4th toe phalanx

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


Modic type I vertebral endplate changes

description: An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1-weighted sequences and high signal on T2-weighted sequences. Modic type I changes are thought to represent bone marrow edema and inflammation.


congenital laryngomalacia

description: Increased collapsibility of the larynx.


Anti-Septin-5 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Septin-5.


Floating gallbladder

description: An abnormal configuration in which the gallbladder is pedunculated, hanging free of the liver, and attached only by the cystic mesentery,


Delayed ability to crawl

description: A failure to achieve the ability to crawl at an appropriate developmental stage. Normal infant motor development is marked by a series of postural milestones including learning to crawl on hands and knees between the ages of 6 and 10 months.


name: Impaired histidine renal tubular absorption


Intra-epidermal blistering

description: A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleavage occurs in the basal layer, which is the innermost layer of the epidermis and consists of a single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate and thereby produce new cells for other epidermal layers. As the cells move towards the upper layers of the epidermis they mature and eventually form cornified cells. The suprabasal cell layer lies directly above the basal layer and is composed of five to ten layers of cells.


Spinal rigidity

description: Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.


Beau's lines

description: A nail dystrophy that is preseents as grooved lines that run from side to side on the fingernail or the toenail that may look like indentations or ridges on the nail plate. They are caused by temporary disruption in the growth of proximal nail matrix. Trauma is usually the initiating factor such as infections, severe medical illnesses, major surgery/anesthesia, medication side effects, and autoimmune disease.


Reduced MHC II surface expression

description: A reduction from the normal level of major histocompatibility complex class II molecules expressed at the cell surface.


name: Normal density transverse bands in metaphyses of the upper limbs


Abnormal neck physiology

description: Any functional anomaly of the neck region.


Cholesterol crystalluria

description: The presence of cholesterol crystals in the urine.


Aplasia/Hypoplasia of the cochlea

description: Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.


Delusional atmosphere

description: Experience everything around them as sinister, portentous, uncanny, and peculiar in an indefinable way. They know that they are personally involved but cannot tell how. They have a feeling of anticipation, sometimes even excitement, that soon all the separate parts of their experience will fit together to reveal something immensely significant.


Scapuloperoneal amyotrophy

description: Muscular atrophy in the distribution of shoulder girdle and peroneal muscles.


name: Abnormal pulmonary valve cusp morphology

description: Any structural anomaly of the pulmonary valve leaflets.


Absent fetal nasal bone

description: The nasal bone is considered absent when it is not visualized on a midsagittal view of the profile. In the second trimester, a true midsagittal view of the fetal profile is obtained and magnified to fill the majority of the image space. The nasal bone appears as an echogenic linear structure below the skin edge. The optimal angle of insonation is 45 degrees to the longitudinal axis of the fetal nasal bone. If the angle of insonation is 0 or 180 degrees, the nasal bone may appear artificially absent. The presence or absence of the nasal bone may be determined at the time of the 11- to 14-week ultrasound examination and used as part of the risk assessment for aneuploidy.


name: Osteolytic defects of the middle phalanx of the 3rd toe


name: Anti-phosphatidyl serine antibody positivity

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


name: Increased stool urobilinogen concentration

description: An increased amount of urobilinogen present in the stool.


name: Proximal/middle symphalangism of 4th finger

description: Fusion of the proximal and middle phalanges of the 4th finger.


name: Decreased circulating 7-dehydrocholesterol concentration

description: Concentration of 7-dehydrocholesterol in the blood circulation below the lower limit of normal.


Curved distal toe phalanx

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


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


Abnormality of the chin

description: An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw.


name: Focal necrosis of right ventricular muscle cells


Anti-proteinase 3 antibody positivity

description: The presence of autoantibodies in the blood circulation that react against proteinase 3. Proteinase 3 (PR3) antigen is a 29-kD serine protease that exists as a protein triplet in human neutrophils


name: Abnormal tissue metabolite concentration

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


Shawl sign

description: Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back.


Positive stool methadone test

description: Detection of methadone and its metabolites in the stool.


Scarring

description: A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed.


Abnormal helix morphology

description: An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe.


Leukocyte cylindruria

description: Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine.


Absent cavum septum pellucidum

description: The cavum septum pellucidum (CSP) is an important fetal midline forebrain landmark that is normally visible by prenatal sonography. This term refers to the lack of visiblity of the CSP on prenatal sonography. The CSP normally can be visualized between 18 and 37 weeks of gestation. Lack of visualization of the CSP in this time period generally requires follow up and may indicate the presence of underlying malformations such as malformations of the corpus callosum. The lack of CSP before 18 weeks or after 37 weeks of gestation (or postnatally) is considered a normal finding.


Abdominal mass

description: An abnormal enlargement or swelling in the abdomen.


Abnormal CSF alanine concentration

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


name: Abnormal arcuate artery intima/media morphology

description: Anomalous structure of the inner or middle layer of the arc-shaped arteries located at the border of the renal cortex and renal medulla.


Extractable nuclear antigen positivity

description: The presence of autoantibodies in the serum that react against extractable nuclear components that are referred to as extractable because they can be extracted from cell nuclei with saline solution.


Single coronary artery origin

description: The presence of a single coronary artery ostium from which both coronary arteries arise.


name: EEG with central epileptiform discharges

description: Focal epileptiform EEG discharges recorded in the central region.


Preauricular cyst

description: Preauricular sinus is an occasional finding and most frequently appears as a small pit close to the anterior margin of the ascending portion of the helix. The opening has also been reported along the postero superior margin of the helix, the tragus or the lobule. Preauricular sinus may lead to the formation of a subcutaneous cyst that is intimately related to the tragal cartilage and the anterior crus of the helix.


Sleep-wake inversion

description: A reversal of sleeping habits, with a tendency to sleep during the day and be awake at night.


name: Symphalangism affecting the distal phalanx of the hallux


Elevated erythrocyte sedimentation rate

description: An increased erythrocyte sedimentation rate (ESR). The ESR is 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.


name: Positive bloodstream antifungal antibody positivity

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


Abnormal 2nd finger morphology

description: An anomaly of the second finger, also known as the index finger.


Hyperconvex fingernails

description: When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity.


name: Increased circulating androstenedione concentration

description: Increased concentration of androstenedione in the blood circulation.


Hypoplastic female external genitalia

description: Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris).


Reduced plasma cell count

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


Bifid nasal tip

description: A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip.


Elevated plasma citrulline

description: An increased concentration of citrulline in the blood.


name: Elevated urinary 2'-deoxyadenosine level

description: The amount of 2'-deoxyadenosine (dAdo) in the urine, normalized for urine concentration, is above the upper limit of normal.


Spleen hamartoma

description: A hamartomatous lesion (benign focal lesions composed of disorganized tissue elements) localized in the spleen.


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


Abnormal form of the vertebral bodies

description: Abnormal morphology of vertebral body.


Elevated urine suberic acid level

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


name: Subsarcolemmal accumulations of abnormally shaped mitochondria

description: An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology.


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


Thin skin

description: Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.


name: Symphalangism of middle phalanx of 3rd finger

description: Fusion of the middle phalanx of the 3rd finger with another bone.


name: Abnormal sensory nerve conduction velocity


name: Increased bone density with cystic changes


Coffee ground vomitus

description: Vomit that has the appearance of coffee grounds, which occurs due to the presence of coagulated blood in the vomit.


Aplasia/Hypoplasia of the nasal bone

description: Absence or underdevelopment of the nasal bone.


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

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


name: Elevated circulating S-adenosyl-L-homocysteine concentration

description: Increased concentration of S-adenosyl-L-homocysteine in the blood circulation.


Decreased forced expiratory flow 25-75%

description: A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled.


name: Agenesis of primary maxillary central incisor

description: Agenesis of upper central primary incisor.


Increased airway neuroendocrine cells

description: Presence of increased numbers of bombesin-immuno-positive neuroendocrine cells (NECs) within distal airways. There are no formal criteria for an increase (which is also dependend on the sensitivity of the staining method), findings of neuroendocrine cells in at least 70% of bronchioles by lung biopsy and at least 10% NECs in an individual airway are consistent with the diagnosis of Neuroendocrine cell hyperplasia of infancy in the appropriate clinical setting. Increases are also seen in other clicnial settings. Neuroendocrine neoplasms of the lung encompass NE tumors (NETs), which split into typical and atypical carcinoids, and NE carcinomas (NECs).


Abnormal thyroid morphology

description: A structural abnormality of the thyroid gland.


name: Osteolytic defects of the distal phalanges of the hand


Diffuse telangiectasia

description: Telangiectases (small dilated blood vessels) with a diffuse localization.


Abnormal fifth toe morphology

description: An anomaly of the little toe.


Glomerular extracapillary fibrin

description: Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina.


Bifid sacrum

description: Presence of a bifid sacral bone.


Grade II vesicoureteral reflux

description: Vesicoureteral reflux into a non-dilated pyelocalyceal system.


Duodenal aganglionosis

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


drug dependence

description: Drug dependence - replaced the term "drug addiction" and is defined as a state, psychic and sometimes also physical, resulting from the interaction between a living organism and a drug, characterized by behavioral and other responses that always include a compulsion to take the drug on a continuous or periodic basis in order to experience its psychic effects, and sometimes to avoid the discomfort of its absence. Tolerance may or may not be present. A person may be dependent on more than one drug.


name: Abnormal circulating alpha-fetoprotein concentration

description: Concentration of alpha-fetoprotein in the blood circulation outside normal limits.


Abnormality of the glenoid fossa

description: An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.


Broad metacarpal epiphyses

description: Increased side-to-side width of the metacarpal epiphyses.


name: Curved linear dimple below the lower lip


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

description: Abnormality of the distal phalanx of the 5th (little) finger.


Blake's pouch cyst

description: The presence of an upwardly displaced normal cerebellar vermis, normal appearance of the fastigium, tentorium and size of the cisterna magna.


Abnormal forearm morphology

description: An abnormality of the lower arm.


Decreased CSF biopterin level

description: Concentration of biopterin in the cerebrospinal fluid (CSF) below the lower limit of normal.


name: Increased esterified to free carnitine ratio

description: An elevated ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.


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

description: A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature.


endocrine system disorder

description: A disease involving the endocrine system.


Fractured distal phalanx of manus

description: A partial or complete breakage of the distal phalanx of manus.


name: Increased urine proteinogenic amino acid derivative level

description: An elevated urine level of a compound that is derived from an amino acid.


Pain in penis

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


name: Benign neoplasm of the central nervous system

description: A neoplasm that arises from the central nervous system and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.


name: Focal sensory seizure with gustatory features

description: A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation.


Abnormal sarcomere morphology

description: Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z disks.


Back pain

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


Delusion of love

description: A delusion (a fixed false belief held despite evidence to the contrary) of being loved by another person, even though there is no evidence of this, and the person in question denies it.


name: Decreased fucosylation of N-linked protein glycosylation

description: Decreased addition of fucose sugar units to N-linked glycans.


name: Contracture of the distal interphalangeal joint of the 3rd toe

description: The distal interphalangeal joint of the 3rd toe cannot be straightened actively or passively.


Hypoplastic fingernail

description: Underdevelopment of a fingernail.


tympanosclerosis

description: The formation of dense connective tissue in the tympanic membrane that does not necessarily cause or lead to loss of hearing.


Squared iliac bones

description: A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance.


Increased sialylated N-glycan level

description: An abnormal increase in the concentration of sialylated N-glycans on glycoproteins.


name: Abnormal circulating non-proteinogenic amino acid concentration

description: Any deviation from the normal concentration in the blood circulation of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.


Fractured distal epiphysis of radius

description: A partial or complete breakage of the distal epiphysis of radius.


Broad skull

description: Increased width of the skull.


Infra-orbital crease

description: Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma.


Abnormality of nail color

description: An anomaly of the color of the nail.


Abnormal bronchial artery morphology

description: Any structural abnormality of a bronchial artery.


name: Elevated circulating apolipoprotein B concentration

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


name: Elevated circulating methionine sulfoxide concentration

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


Abnormality of the calf

description: An abnormality of the calf, i.e. of the posterior part of the lower leg.


ureteral obstruction

description: Blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder. The obstruction may be congenital, acquired, unilateral, bilateral, complete, partial, acute, or chronic. Depending on the degree and duration of the obstruction, clinical features vary greatly such as hydronephrosis and obstructive nephropathy.


Episodic upper airway obstruction

description: Intermittent episodes of increased resistance to the passage of air in the upper airway.


name: Patchy sclerosis of the proximal phalanx of the 3rd finger

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


name: Abnormality of the vestibulocochlear nerve

description: Any structural anomaly of the vestibulocochlear nerve. The vestibulocochlear nerve consists of the vestibular and cochlear nerves, also known as cranial nerve eight (CN VIII). Each nerve has distinct nuclei within the brainstem. The vestibular nerve is primarily responsible for maintaining body balance and eye movements, while the cochlear nerve is responsible for hearing.


name: Patchy sclerosis of the middle phalanx of the 5th finger

description: Patchy increase in bone density of the middle phalanx of the 5th finger.


tarsal coalition

description: Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).


Thalamic hypometabolism in FDG PET

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


Abnormal humeral diaphysis morphology

description: An anomaly of the humeral diaphysis.


Clicking tinnitus

description: A type of tinnitus that presents as clicks, resembling the noise made by the snapping together of 2 fingers.


Drooling

description: Habitual flow of saliva out of the mouth.


Urethral diverticulum

description: The presence of a diverticulum (sac or pouch) in the wall of the urethra.


Sclerosis of proximal toe phalanx

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


Fetal cerebellar hemisphere hemorrhage

description: A type of fetal intracranial hemorrhage that occurs in the hemisphere of the cerebellum.


name: Abnormal umbilical artery doppler waveform during pregnancy

description: Abnormal waveforms the Doppler sonographic examination of bloodflow in the umbilical artery. vUmbilical arterial Doppler assessment is used in surveillance of fetal health in the third trimester.


ainhum

description: Spontaneous autoamputation of a digit, usually the fifth toe. It results from the formation of a fibrotic band which constricts the full radius of the digit and eventually causes the spontaneous autoamputation.


Neonatal unilateral epileptic spasm

description: Neonatal unilateral epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs at one side of the body.


Chronic intestinal candidiasis

description: Persistent overgrowth of Candida albicans in the gastrointestinal tract.


name: Abnormal circulating short-chain fatty-acid concentration

description: Any deviation from the normal concentration of a short-chain fatty acid in the blood circulation.


Adrenocorticotropic hormone excess

description: Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex.


name: Abnormal serum insulin-like growth factor 1 level

description: An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation.


Isometric tremor

description: An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist).


Addictive benzodiazepine use

description: Addiction to a benzodiazepine.


Interlobular vein medial atrophy

description: Atrophy (wasting, decreased thickness) of the medial layer pf the interlobular veins of the kidney.


name: Abnormal glomerular capillary morphology

description: A structural anomaly of the capillary blood vessels in the renal glomerulus.


High-output congestive heart failure

description: A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others.


Lumbar kyphosis

description: Over curvature of the lumbar region.


name: Axillary and groin hyperpigmentation and hypopigmentation


Asymmetry of the nares

description: Asymmetry or size difference between the left and right nostril.


name: Renal interstitial xanthogranulomatous inflammation

description: Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells.


subcortical band heterotopia

description: A developmental brain abnormality characterized by atypical migration of neurons during cortical development.


Partial beta-EEG

description: EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz).


name: EEG with centrotemporal focal spike waves

description: EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.


Bifid ribs

description: A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray.


Abnormal caudate nucleus morphology

description: Any structural abnormality of the caudate nucleus.


name: Centrally nucleated skeletal muscle fibers

description: An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).


Non-midline cleft of the upper lip

description: Clefting (gap or groove) of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region.


Ridged fingernail

description: Longitudinal, linear prominences in the fingernail plate.


Hypoplasia of the ovary

description: Developmental hypoplasia of the ovary.


Rhizomelia

description: Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).


name: Modic type II vertebral endplate changes

description: An abnormal magnetic resonance tomography signal from a vertebral endplate with a high signal on T1-weighted sequences and high- or isointense signal on T2 sequences. Modic type II signals are thought to indicate fatty replacement in the bone marrow.


Cortical irregularity

description: An abnormal irregularity of cortical bone.


Increased urinary cortisol level

description: Abnormally increased concentration of cortisol in the urine.


Overfriendliness

description: A form of hypersociability that presents as mostly inappropriate friendliness towards others.


Short distal phalanx of toe

description: Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe.


Abnormal factor VIII activity

description: A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.


name: Progressive pulmonary function impairment


mesocardia

description: Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane.


Abnormality of levator labii superioris

description: An abnormality of a levator labii superioris.


Fractured proximal phalanx of manus

description: A partial or complete breakage of the proximal phalanx of manus.


name: Decreased circulating corticosterone level

description: An abnormally reduced concentration of corticosterone in the blood.


Increased scrotal rugation

description: Increased number or density of the folded ridges (wrinkles) of skin of the scrotum.


Decreased vigilance

description: A decrease in the ability to maintain sustained attention is characterized by reduced alertness.


Increased circulating IgG1 level

description: An abnormally increased concentration of the IgG1 subtype in the blood circulation.


name: Abnormal circulating ornithine concentration

description: Deviation from the normal concentration of ornithine in the blood circulation.


Abnormal skin adnexa morphology

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


Frontalis muscle overactivity

description: Increased activity of the frontalis muscle, causing a characteristic staring and astonished facial expression.


Procedural memory loss

description: A reduction in the ability to retrieve information about how to perform activities, such as how to ride a bike or drive a car, how to perform activities of daily living, or how to play a musical instrument.


name: Reduced epidermal plectin protein expression


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


Posterior pituitary dysgenesis

description: Abnormal development of the neurohypophysis during embryonic growth and development.


name: Depletion of mitochondrial DNA in muscle tissue


Arcuate artery endotheliosis

description: Enlargement of endothelial cells of the arcuate arteries of the kidney because of cytoplasmic swelling.


name: Elevated circulating propionylcarnitine concentration

description: Increased concentration of propionylcarnitine in the blood circulation.


Circumoral cyanosis

description: Persistent blue color of the skin that surrounds the mouth.


Proximal scleroderma

description: Symmetrical thickening, tightening and induration of the skin of the fingers and the skin proximal to the metacarpophalangeal or metatarsophalangeal joints. These changes can involve the entire limb, face, neck and trunk.


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

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


name: Contracture of the interphalangeal joint of the hallux

description: The interphalangeal joint of the big toe cannot be straightened actively or passively.


name: Decrease in high molecular weight von Willebrand factor Multimers

description: A decrease in high molecular weight von Willebrand factor multimers.


Doll-like facies

description: A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin.


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

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


name: Elevated urinary phenylpyruvic acid level

description: An abnormally increased amount of phenylpyruvic acid in the urine.


Decreased urinary norepinephrine level

description: The concentration of norepinephrine in the urine, normalized for urine concentration, is below the lower limit of normal.


name: Elevated proportion of CD4+ effector memory T cells

description: An abnormally increased proportion of effector memory CD4+ T cells. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype.


Fractured distal tarsal bone

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


Bronchial isomerism

description: An anomalous mirror-imaged arrangement of some bronchial structures. Right isomerism is defined as a subset of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures (vice versa for left isomerism).


name: Decreased cirrculating antimullerian hormone circulation

description: A reduction below the normal range of the antimullerian hormone in the circulation.


Abnormality of the mitochondrion

description: An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration.


Abnormal blistering of the skin

description: The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.


Decreased CSF tyrosine concentration

description: Abnormally decreased levels of tyrosine in cerebrospinal fluid.


Focal cortical dysplasia type Ib

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


name: Intermittent generalized erythematous papular rash


1-2 finger syndactyly

description: Syndactyly with fusion of fingers one and two.


name: Easily subluxated first metacarpophalangeal joints


name: Absent epiphysis of the middle phalanx of the 3rd toe


Hypoplasia of the musculature

description: Underdevelopment of the musculature.


name: Focal aware autonomic seizure with piloerection

description: A focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by retained awareness throughout the seizure.


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


Supernumerary testes

description: The presence of more than two testes.


name: Decreased proportion of CD4-positive T cells

description: A reduction in the proportion of CD4-positive T cells relative to the total number of T cells.


Anti-La/SS-B antibody positivity

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


name: Fatty replacement of ventricular myocardial tissue

description: Presence of an increased amount of fat tissue within a cardiac ventricle with corresponding reduction of muscle tissue.


Fractured upper limb segment

description: A partial or complete breakage of the upper limb segment.


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

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


retrograde amnesia

description: The loss of access to memories that were previously encoded; this disorder is most commonly preceded by trauma, including physical brain injury, stroke, or seizure, but may also be psychogenic in origin. Memory loss may be temporary or permanent, but the ability to encode new memories or skills is not generally affected.


name: Abnormal morphology of myocardial trabeculae

description: Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae).


name: Small epiphysis of the middle phalanx of the 4th toe


Cuboidal metacarpal

description: Severely shortened metacarpal with a cuboidal appearance.


Decreased HDL2a concentration

description: A reduction below the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2a particle is defined as an HDL particle with a size of 8.80-9.69 nm.


Cardiac polyglucosan accumulation

description: Accumulation of a poorly branched and poorly spherical amylopectin-like glycogen (polyglucosan) in myocardial tissue.


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

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


Abnormal Sharpey fiber morphology

description: An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibers connecting periosteum to bone.


Interictal EEG abnormality

description: Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge.


Elevated cholesterol ester level

description: An elevated concentration of circulating cholesterol esters, which are fatty acid esters of cholesterol and make up about two-thirds of total plasma cholesterol.


Monoclonal elevation of circulating IgA

description: An increase in circulating IgA characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.


Anti-GW182 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GW182.


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

description: An abnormal proportion of effector memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.


Acute abdomen

description: A sudden onset of abdominal pain with associated nausea or vomiting. The acute abdomen may be caused by an infection, inflammation, vascular occlusion, or obstruction.


Serrated incisors

description: Incisor teeth with irregular edges said to resemble a saw.


name: Focal impaired awareness autonomic seizure with erection

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


Vestibular saccular degeneration

description: Deterioration or loss of the tissues of the saccule of the vestibule.


name: Abnormal glomerular endothelial cell morphology

description: An abnormal structure of the glomerular endothelial cells, which are highly specialized cells with fenestrae and a charged luminal glycocalyx layer that contribute to the filtration barrier.


Thyroid agenesis

description: The congenital absence of the thyroid gland.


name: Focal aware cognitive seizure with receptive dysphasia/aphasia

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


Onychauxis

description: Thickened nails without deformity.


Short tibia

description: Underdevelopment (reduced size) of the tibia.


Low APGAR score

description: An Apgar score less than seven.


White cerebellum sign

description: On computed tomography of the brain,the white (or dense) cerebellum sign is seen when the cerebellum appears dense with respect to the cerebral parenchyma. The increase in attenuation of cerebellum is in fact a relative hyperdensity caused by decreased attenutation of the brain. It represents anoxic-ischemic cerebral injury, and has a very poor prognosis.


name: Low alkaline phosphatase of renal origin

description: An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood.


Upper limb postural tremor

description: A type of tremors that is triggered by holding an arm in a fixed position.


name: Decreased circulating A-type natriuretic peptide concentration

description: A measurable reduction in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.


Neoplasm of striated muscle

description: A benign or malignant neoplasm (tumor) originating in striated muscle, either skeletal muscle or cardiac muscle.


Oral melanotic macule

description: Flat, distinct, discolored area of oral mucosal membrane less than 1 cm wide not associated with a change in the thickness or texture of the affected mucosal membrane. The lesions are small, solitary, well-circumscribed and often uniformly pigmented.


Holster sign

description: Symmetric poikiloderma of hips and lateral thighs below the greater trochanter.


Myocardial granulomatous infiltrates

description: The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the myocardium.


Increased level of D-threitol in plasma

description: An increase in the level of D-threitol in the plasma.


Progressive forearm bowing

description: Progressive bending or abnormal curvature of the forearm skeleton.


Decreased urinary metaepinephrine level

description: The concentration of metanephrine in the urine, normalized for urine concentration, is below the lower limit of normal.


Abnormal sternum morphology

description: An anomaly of the sternum, also known as the breastbone.


Bracket epiphyses of the 3rd finger

description: An abnormality 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.


cerebral cavernous malformation 1

description: A cerebral cavernous malformation (also known as cavernoma, cavernous angioma, cavernous hemangioma) is a collection of structurally abnormal slow-flow capillaries predominantly in the central nervous system. These are multiple mulberry-like distended caverns of dilated thin-walled capillaries without the normal intervening brain parenchymal architecture. Often, individual cavernomas are surrounded by hemosiderin representing remote oozing due to the abnormal capillaries.


Absent distal phalanx of the 3rd toe

description: Developmental aplasia of the distal phalanx of third toe.


name: Decreased activity of mitochondrial complex IV

description: A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria.


name: Focal cognitive seizure with forced thinking

description: A focal cognitive seizure characterized by forced thinking as the initial semiological manifestation.


name: Lymphocytic infiltration of the colorectal mucosa

description: Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy.


name: Decreased platelet alpha-2A-adrenergic receptor

description: Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine.


Short hard palate

description: Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective).


Median pseudocleft lip

description: A type of mild median cleft lip in which the central tubercle of the upper lip is replaced by a mucosal cleft in the midline.


description: Neonatal bilateral symmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body symmetrically.


Urethrovesical occlusion

description: Blockage of the flow of urine from the bladder into the urethra.


Cerebral cortical microinfarct

description: An infarct located on the outer layer of the cerebrum that can only be observed microscopically. Cerebral microinfarcts are typically defined as sharply delimited microscopic regions of cellular death or tissue necrosis, sometimes with cavitation (that is, a central fluid-filled cavity). The term microscopic denotes that these lesions are not visible by gross inspection of the brain but seen by light microscopy. The term infarct is most commonly used for ischemia-related tissue loss, and indeed the pathologic appearance of microinfarcts is consistent with that of known ischemic infarctions.


Excessive guilt

description: Guilt that is excessive in that it is based on an incorrect judgment (that one is responsible for a negative outcome) or is out of proportion to the committed offense.


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

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


Elongated radius

description: Increased length of the radius.


Uhl anomaly

description: Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation.


Acetabular erosions

description: Erosion (loss of substance) of the acetabular subchondral cortical bone. The acetabulum is the concave surface that meets with the head of the femur, forming the hip joint.


Abnormal lymphocyte physiology

description: Any anomaly of lymphocyte function.


name: Hepatic lipid-laden macrophage infiltration

description: Accumulation of foamy cells (lipid-laden macrophages) in the parenchyma of the liver.


name: Focal substantia nigra T2 hyperintensity

description: Hyperintense lesion in the substantia nigra on magnetic resonance T2 imaging.


Reduced prothrombin antigen

description: Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin.


name: Abnormal tissue enzyme concentration or activity

description: Concentration of an enyzme in a tissue is above or between the limit of normal. This term is intended to be used for enzymes that can be measured in multiple tissues other than blood.


Longitudinal vaginal septum

description: The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication.


Infancy onset short-trunk short stature

description: A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy.


name: Triangular epiphyses of the proximal phalanges of the hand


Splayed epiphyses

description: Flaring (widening) of the epiphysis.


Abnormal frontalis muscle physiology

description: Abnormal function of the frontalis muscle, which covers parts of the forehead and is responsible for raising the eyebrows.


Ureteral dysgenesis

description: A developmental anomaly of the ureter.


name: Abnormal urine alpha-ketoglutarate concentration

description: A deviation from normal of the concentration of 2-oxoglutaric acid in the urine.


Recurrent paroxysmal headache

description: Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality.


Focal aware bilateral motor seizure

description: A type of focal bilateral motor seizure during which awareness is fully retained throughout.


name: Positive bloodstream parasite-specific antibody positivity

description: The presence of antibodies in the blood circulation that react against a parasite.


Small epiphyses of the 2nd finger

description: Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms.


name: Abnormal glossopharyngeal nerve morphology

description: Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX).


Fractured skull

description: A partial or complete breakage of the skull.


Esophageal web

description: Thin (2-3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa that can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. Acquired webs are much more common than congenital webs and typically appear in the cervical area (postcricoid). Clinical symptoms of this condition are selective (solid more than liquids) dysphagia, thoracic pain, nasopharyngeal reflux, aspiration, perforation and food impaction (the last two are very rare).


Wide nose

description: Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.


name: Abnormal arcuate artery lumen morphology

description: Abnormal structural characteristics of the interior space (lumen) of the arcuate artery of the kidney.


name: Triangular epiphysis of the middle phalanx of the 3rd toe


Limited head nodding or shaking

description: Absence or reduction in the use of head nodding to indicate "yes" or head shaking to indicate "no".


Abnormal pulmonary lymphatics

description: An abnormality of the pulmonary lymphatic chain.


name: Proximal finger joint hyperextensibility


Abnormal foramen magnum morphology

description: Any abnormality of the foramen magnum.


Fibular overgrowth

description: Relatively increased growth of the fibula compared to that of the tibia.


Periauricular skin pits

description: Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit.


Non-restorative sleep

description: Perception of feeling unrefreshed after sleep.


Laryngeal stridor

description: An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat.


Small acrosomal area

description: Reduction in size of the acrosome below the lower limit of normal. The acrosome is a unique membranous organelle located over the anterior part of the sperm nucleus. According to the World Health Organization criteria, the acrosome must be clearly visible, comprising approximately 40-70 percent of the sperm head.


Verrucous cell carcinoma of the tongue

description: A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance.


Facial wrinkling

description: Excessive wrinkling of the skin of the face.


name: Decreased sialylation of O-linked protein glycosylation

description: An reduced addition of sialic acids to O-linked glycans.


name: Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level

description: The amount of 2,3-dihydroxy-2-methylbutanoic acidin the urine, normalized for urine concentration, is above the upper limit of normal.


Abnormality of molar

description: An abnormality of molar tooth.


Plantar flexion contracture

description: A type of contracture in which the plantar flexion muscles are contracted.


Fallopian tube torsion

description: A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation.


Atypical absence status epilepticus

description: Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure.


allesthesia

description: A neurological disorder in which a sensory stimulus, usually tactile but more rarely other sensory modalities, is misperceived in a location distant from the original stimulus.


Muscular ventricular septal defect

description: The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle.


Horizontal ribs

description: A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12.


Iliac horns

description: Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic.


Abnormality of foot cortical bone

description: An anomaly of the outer shell (cortex) of a foot bone.


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


Abnormal uterine cervix morphology

description: An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix.


Abnormality of primary teeth

description: Any abnormality of the primary tooth.


Absent antihelix

description: No discernible ridge between concha and triangular fossa and helix.


Fast-growing nails

description: Nails whose growth is quicker than normal.


Porcelain gallbladder

description: Porcelain gallbladder refers to the condition in which the inner gallbladder wall is encrusted with calcium. The wall becomes brittle, hard, and often takes on a bluish hue. It is usually found incidentally on plain abdominal x-rays or other imaging because most patients are asymptomatic.


Abnormal cerebral vein morphology

description: An anomaly of cerebral veins.


Abnormal exteroceptive sensation

description: A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes.


Positive synovial fluid gram stain

description: Demonstration of the presence of bacteria by gram staining of joint (synovial) fluid. The sample is generally obtained by arthrocentesis.


name: Osteolytic defects of the middle phalanx of the 2nd toe


name: Reduced orotidine 5-prime phosphate decarboxylase level

description: An abnormal decrease in orotidine 5'-phosphate decarboxylase level.


Abnormality of venous physiology

description: An anomaly of venous function.


name: Abnormal circulating insulin concentration

description: An abnormal concentration of insulin in the body.


Abnormal spermatogenesis

description: Incomplete maturation or aberrant formation of the male gametes.


Positional foot deformity

description: A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies.


Renal arteriole intima/media hyalinosis

description: Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material (hyalinosis) in the inner or middle layer of the renal arterioles. This feature may be accompanied by hypertrophy of the media and intima fibrosis.


Wide distal femoral metaphysis

description: Increased width of the distal part of the shaft (metaphysis) of the femur.


name: Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis

description: A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


name: Focal aware emotional seizure with fear/anxiety/panic

description: Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is retained throughout.


name: Renal arteriole foam cell endoarterial hypercellularity

description: A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen.


Decreased sensitivity to hypoxemia

description: Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration.


Abnormal number of incisors

description: The presence of an altered number of the incisor teeth.


Aplasia/hypoplasia of the humerus

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


Calcium oxalate nephrolithiasis

description: The presence of calcium- and oxalate-containing calculi (stones) in the kidneys.


Developmental stagnation

description: A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills.


Hot cross bun sign

description: A cruciform-shaped hyperintensity within the pons found on T2-weighted magnetic resonance imaging (MRI).


name: Shortened O-fucosylated glycan on properdin

description: Decreased length of O-fucosylated glycans present on properdin.


name: Abnormality of the epiphysis of the distal phalanx of the hallux


Brittle hair

description: Fragile, easily breakable hair, i.e., with reduced tensile strength.


name: Elevated circulating 3-hydroxyisovalerylcarnitine concentration

description: Concentration of 3-hydroxyisovalerylcarnitine in the blood circulation above the upper limit of normal.


name: Aplasia/hypoplasia of proximal toe phalanx

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


Diminished ability to concentrate

description: Being unable to focus one's attention or mental effort on a particular object or activity.


name: Increased level of myristic acid in serum

description: An increase in the level of myristic acid in the serum.


name: Focal aware head nodding automatism seizure

description: A type of focal automatism seizure characterized by involuntary head nodding at onset and during which awareness is fully retained throughout.


name: Elevated circulating uroporphyrin concentration

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


Groin pain

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


Aplastic/hypoplastic toenail

description: Absence or underdevelopment of the toenail.


Cervical kyphosis

description: Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance.


name: Confluent hyperintensity of cerebral white matter on MRI

description: Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together.


Excessive salivation

description: Excessive production of saliva.


Posteriorly rotated ears

description: A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).


Hepatic foam cells

description: The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the liver.


name: Bracket epiphysis of the proximal phalanx of the thumb

description: An abnormality of the proximal phalanx of the thumb 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.


Abnormal vertebral pedicle morphology

description: Abnormal morphology of a vertebral pedical.


name: Abnormality of the distal phalanges of the toes


Abnormal cardiac catheterization

description: Abnormal results from the diagnostic tests resulting from cardiac catheterization.


Cerebellar granular layer atrophy

description: Atrophy of the cerebellum affecting primarily the granular cell layer.


Absent proximal phalanx of the 3rd toe

description: Absence of proximal phalanx of third toe, owing to a congenital defect of development.


name: Focal impaired awareness autonomic seizure with piloerection

description: A Focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by impaired awareness at some point during the seizure.


Fingerpad telangiectases

description: Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers.


Short chin

description: Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.


name: Elevated circulating homovanillic acid concentration

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


Pulmonary xanthomatosis

description: Lipid deposits localized within the lung. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.


name: Anomalous origin of right coronary artery from the pulmonary artery

description: Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve.


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


Acromicria

description: Small hands and feet in proportion to the rest of the body.


name: Agenesis of permanent mandibular central incisor

description: Agenesis of lower secondary incisor.


Weak grip

description: Reduced grip strength. Gripping is the motion by which the hand tightly grasps an object or other hand.


Flared iliac wing

description: Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing.


Flat distal femoral epiphysis

description: An abnormal flattening of the distal epiphysis of femur.


Enlarged peripheral nerve

description: Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve.


Proximal lower limb amyotrophy

description: Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.


Expressive language delay

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


Honeycomb lung

description: Honeycombing represents destroyed and fibrotic lung tissue containing numerous cystic airspaces with thick fibrous walls, representing the late stage of various lung diseases, with complete loss of acinar architecture. The cysts range in size from a few millimeters to several centimeters in diameter, have variable wall thickness, and are lined by metaplastic bronchiolar epithelium. On chest radiographs, honeycombing appears as closely approximated ring shadows, typically 3-10 mm in diameter with walls 1-3 mm in thickness, that resemble a honeycomb; the finding implies end-stage lung disease. On CT scans, the appearance is of clustered cystic air spaces, typically of comparable diameters on the order of 3-10 mm but occasionally as large as 2.5 cm. Honeycombing is usually subpleural and is characterized by well-defined walls. It is a CT feature of established pulmonary fibrosis. Because honeycombing is often considered specific for pulmonary fibrosis and is an important criterion in the diagnosis of usual interstitial pneumonia, the term should be used with care, as it may directly impact patient care.


Hypoplasia of right ventricle

description: Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells.


name: Reduced mitochondrial acetyl-CoA acetyltransferase activity in cultured fibroblasts

description: Concentration or activity of mitochondrial acetyl-CoA acetyltransferase (EC 2.3.1.9) as measured in cultured fibroblasts is below the limits of normal.


flatfoot

description: An anatomic deformity in which the arch of the foot collapses, resulting in the entire sole of the foot coming into complete or near-complete contact with the ground.


holoprosencephaly 1

description: The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22.


Hypoleucinemia

description: Decreased amount of leucine in the blood.


Increased intestinal transit time

description: An increase in the length of time required for food to pass through the intestines.


name: Symphalangism affecting the phalanges of the 3rd toe


Absent metatarsal bone

description: A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone.


Increased body fat percentage

description: The percentage of fat as a part of total body weight above the norm, usually defined as 32% for females and 25% for males.


name: Increased aromatic amino acid level in urine

description: An elevated level of an aromatic amino acid in the urine.


tricuspid valve prolapse

description: Abnormal protrusion of one or more of the leaflets of tricuspid valve into the right atrium during systole. This allows the backflow of blood into right atrium leading to tricuspid valve insufficiency; systolic murmurs. Its most common cause is not primary valve abnormality but rather the dilation of the right ventricle and the tricuspid annulus.


name: Decreased circulating 17-hydroxyprogesterone concentration

description: Concentration of 17-hydroxyprogesterone in the blood circulation below the lower limit of normal.


Cor triatrium sinister

description: A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum.


Partial hyposmia

description: Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).


name: Osteolytic defects of the phalanges of the 2nd finger


Olfactory sensory seeking

description: Pursuit of specific scents, smells, or fragrances that is abnormal in intensity and/or frequency.


Abnormal facial artery morphology

description: Any structural abnormality of a facial artery, one of the branches of the external carotid artery.


Arteriovenous malformation of the lip

description: A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus.


Renal tubular epithelial lipofuscin

description: Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules.


isolated Pierre-Robin syndrome

description: Pierre-Robin syndrome (or Pierre-Robin sequence) is characterized by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft.


Impaired temperature sensation

description: A reduced ability to discriminate between different temperatures.


Broad finger

description: Increased width of a non-thumb digit of the hand.


Pancreatic pseudocyst

description: Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis.


name: Elevated circulating fibroblast growth factor 23 concentration

description: The concentration of fibroblast growth factor 23 in the blood circulation is above the upper limit of normal.


name: Delayed scintigraphic gallbladder filling

description: Hepatobiliary scintigraphy is a nuclear imaging technique that permits evaluation of the liver and biliary system for acute and chronic cholecystitis, biliary atresia, biliary obstruction, and post-surgical biliary leak. With this investigation, a radiotracer is administered intravenously, bound to albumin, transported to the liver, and excreted into the biliary system. This term refers to a longer than normal time for the radiotracer to be visualized in the gallbladder. This finding may be a sign of chronic gallbladder disease or partial obstruction of the common bile duct.


Positive blood molindone test

description: Detection of molindone in the blood, an antipyschotic used for treatment of schizophrenia.


name: Bullet-shaped distal phalanx of the thumb

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 thumb is affected.


Elevated urinary prostaglandin E2 level

description: An increased amount of prostaglandin E2 in the urine.


name: Abnormality of the epiphyses of the distal phalanx of finger

description: Any anomaly of distal epiphysis of phalanx of finger.


Reduced sterol 27-hydroxylase activity

description: Diminished activity of the enzyme sterol 27-hydroxylase, which participates in the degradation of cholesterol to bile acid. Sterol 27-hydroxylase catalyzes the first step in the normal oxidation of the steroid side chain, converting cholesterol, as well as different 7a-hydroxylated cholesterol metabolites, to 27-oxygenated steroids.


Dystrophic fingernails

description: The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate.


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

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


Abnormal duodenum morphology

description: An abnormality of the duodenum, i.e., the first section of the small intestine.


Elevated transferrin saturation

description: An above normal level of saturation of serum transferrin with iron.


Abnormal pleura morphology

description: An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls.


Elevated CSF cholestanol concentration

description: The concentration of cholestanol in the cerebrospinal fluid (CSF) is above the upper limit of normal. Cholestanol is the 5-alpha-dihydro derivative of cholesterol.


Anti-H2A antibody positivity

description: The presence of autoantibodies in the blood circulation that react against histone H2A.


name: Reduced left ventricular endsystolic diameter

description: A lower than normal left ventricular endsystolic diameter.


Partial albinism

description: Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs.


Cleft in skull base

description: A bony defect in the skull base.


5-oxoprolinase deficiency

description: 5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria.


Frontal cutaneous lipoma

description: Presence of a cutaneous lipoma on the forehead.


Bifid clitoris

description: Two clitorides located side by side.


Hypovalinemia

description: A decreased amount of valine in the blood.


Left unilambdoid synostosis

description: Premature synostosis of only the left lambdoid suture.


Rhizomelic arm shortening

description: Disproportionate shortening of the proximal segment of the arm (i.e. the humerus).


name: Fatiguable weakness of proximal limb muscles

description: A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.


name: Abnormal left ventricular endsystolic diameter

description: A deviation from the normal range of the left ventricular endsystolic diameter.


Hepatolithiasis

description: The presence of gallstones within the intrahepatic bile ducts proximal to the right and left hepatic ducts.


Anti-laminin gamma1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against laminin gamma-1.


Patulous urethra

description: Urethra more open or expanded than normal.


Embryonal renal neoplasm

description: The presence of an embryonal neoplasm of the kidney that primarily affects children.


name: Irregular epiphysis of the 1st metatarsal


Posterior pituitary agenesis

description: Absence of the neurohypophysis owing to a developmental defect.


Asymmetry of the mandible

description: Lack of symmetry between the left and right mandible.


Hypoplastic tricuspid valve

description: Congenital defect characterized by underdevelopment of the tricuspid valve.


Agenesis of molar

description: Agenesis of molar tooth.


name: Synostosis of the proximal phalanx of the hallux with the 1st metatarsal


2-hydroxyglutarate aciduria

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


Shoulder muscle aplasia

description: Absence of shoulder muscles.


name: Early progressive calcific cardiac valvular disease


holoprosencephaly

description: Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity.


Polyclonal elevation of circulating IgA

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


Broad humeral epiphyses

description: Increased width of the humeral epiphysis.


Preterm intraventricular hemorrhage

description: Intraventricular hemorrhage that occurs in a premature infant.


Abnormal pancreas size

description: A deviation from the normal size of the pancreas.


Cryptotia

description: Invagination of the superior part of the auricle under a fold of temporal skin.


Aplasia/Hypoplasia of the thyroid gland

description: Absence or underdevelopment of the thyroid gland.


name: Reduced circulating interleukin 6 concentration

description: The concentration of interleukin-6 in the blood circulation is below the lower limit of normal.


Renal interstitial calcium oxalate

description: The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney.


Music-induced seizure

description: Seizure precipitated by listening to music or other complex sounds.


Thinned small intestinal mucosa

description: Abrnormal reduction in the height of the mucosa of the small intestine. The mucosa is arranged in regular circular folds (the circular valves of Kerckrin), the mucosal surface is covered with small projections called villi, which are slender, about 1.5-2 mm long projections of the mucosa into the lumen. In between the villi are the crypts. This term refers to a pathological thinning of these structures.


Appendicular hypotonia

description: Muscular hypotonia of one or more limbs.


Radial metaphyseal irregularity

description: Irregularity of the normally smooth surface of the metaphysis of the radius.


Hypoplastic scapulae

description: Underdeveloped scapula.


name: Anti-phosphatidic acid antibody positivity

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


name: Cone-shaped epiphysis of the middle phalanx of the 5th toe


Early inspiratory crackles

description: Crackles that appear at the beginning of inspiration and end before mid-inspiration.


Abnormal toenail morphology

description: An anomaly of the toenail.


Antisperm antibody positivity

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


hereditary geniospasm

description: Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip.


postaxial polydactyly type A

description: Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal.


name: Soft-tissue ossification around the shoulders

description: Formation of calcified tissue in the soft tissues surrounding the shoulder.


Abnormal urinary purine level

description: Any deviation from the normal amount of a purine compound in the urine. Purines are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. Two of the four deoxyribonucleotides (deoxyadenosine and deoxyguanosine) and two of the four ribonucleotides (adenosine, or AMP, and guanosine, or GMP) are purines.


Blood parasite

description: Detection of a parasitic organism in the blood stream. Blood parasites include malaria plasmodia, microfilaria species, trypanosomes (the causative agents of African sleeping sickness and South American Changas disease) and the causative agents of schistosomiasis of the bladder and the intestine.


Type 2 schizencephaly

description: A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal gray matter that are opposed to each other.


name: Hepatic melanin-like lysosomal pigmentation

description: Accumulation of dark, coarsely granular pigment localized in lysosomes of centrilobular hepatocytes.


Dibasicaminoaciduria

description: An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually refered to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His).


Impaired two-point discrimination

description: A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart.


Anti-p53 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against p53.


name: Anomalous origin of the right common carotid artery from the aorta

description: The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta.


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

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


Scheuermann disease

description: A disorder characterized by osteochondrosis of the vertebral epiphyses in childhood.


Tactile sensory seeking

description: Pursuit of a specific texture that is abnormal in intensity and/or frequency.


name: Cone-shaped epiphyses fused within their metaphyses


name: Aplasia/Hypoplasia of the fallopian tube

description: Aplasia or developmental hypoplasia of the fallopian tube.