Bicarbonaturia

description: Abnormally increased concentration of hydrogencarbonate in the urine.


Oromotor apraxia

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

description: Oral-motor apraxia is the inability to volitionally sequence oral movements of the speech structure for nonspeech tasks in the absence of neuromuscular deficits such as paralysis or muscle weakness. Oral-motor apraxia is diagnosed when, despite intact sensory motor function an individual is unable to use these effector systems under voluntary control.


Delayed tarsal ossification

description: Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.


Sparse axillary hair

description: Reduced number or density of axillary hair.


name: Starry sky appearance on hepatic sonography

description: An abnormal echotexture visible in liver ultrasound manifesting as a diffuse hyperechoic liver echotexture with multiple, small hypoechoic lesions. The appearance is said to resemble a starry sky (multiple white spots on a dark background).


Delayed calcaneal ossification

description: Delayed maturation and calcification of the calcaneus.


Astereognosis

description: Tactile agnosia refers to the inability to recognize objects by touch, while the inability to discriminate shape and size by touch is also a related condition.


Intrusion symptom

description: Unintentional re-experiencing of a traumatic event involves symptoms that typically include sensory impressions and emotional responses stemming from the trauma. These symptoms seem to lack a sense of time perspective and context.


Clasp-knife sign

description: Clasp-knife phenomonen refers to increased muscle tone while bending or stretching a limb, whereby there is a sudden relaxation (decrease in resistance) as the muscle continues to be streched. This phenomenon has been likened to opening a clasp knife.


Focal T2 hyperintense brainstem lesion

description: A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem.


Enteroviral encephalitis

description: Inflamation of the brain related to infection by an enterovirus.


Stereotypical body rocking

description: Habitual repetitive movement of the entire body, front to back or side to side.


Labial hemangioma

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


name: Reduced epidermal integrin alpha6beta4 protein expression


Focal impaired awareness tonic seizure

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


sebocystomatosis

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

description: Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities.


atrial septal aneurysm

description: A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography.


Paraplegia/paraparesis

description: Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength.


name: Osteolytic defects of the phalanges of the toes


Laeden paralysis

description: The sensation of having heavy arms and legs, or feeling a heaviness in the limbs.


Concentric hypertrophic cardiomyopathy

description: Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.


Whooping cough

description: A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air.


lip neoplasm

description: A neoplasm (disease) that involves the lip.


Ambiguous facial expression

description: Spontaneous production of communicative facial expressions that have poor quality or are perceived as odd or mechanical. This may include inaccurate mimicry of typical facial expressions. These expressions may be difficult to interpret for someone who is not familiar with the individual making the expression.


Inflammatory myopathy

description: Chronic muscle inflammation accompanied by muscle weakness.


name: Abnormal brain FDG positron emission tomography

description: An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity.


Tooth agenesis

description: The absence of one or more teeth from the normal series by a failure to develop


name: idiopathic spontaneous coronary artery dissection

description: The spontaneous occurrence of a dissection of the coronary artery. The clinical recognition of this phenomenon has increased as coronary angiography is becoming more commonly used in the treatment of acute coronary syndrome. The etiology of the condition has not been fully elucidated, but the mean age of presentation is 30-45 years, more than 70% are women, and 30% of cases occur in the peripartum period.


acromegaly

description: Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.


name: Increased CSF alpha-aminobutyrate concentration

description: Concentration of alpha-aminobutyrate in the cerebrospinal fluid above the upper limit of normal.


Abnormal enteric ganglion morphology

description: An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow.


Global glomerulosclerosis

description: Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%.


Abnormal CSF leucine concentration

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


Skin erosion

description: A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.


Tachylalia

description: Fast speech.


Limb fasciculations

description: Fasciculations affecting the musculature of the arms and legs.


Cleft mandible

description: Midline deficiency of the mandible and some or all overlying tissues.


Follicular hyperplasia

description: Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers.


Pulmonary artery sling

description: An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum.


Brachymetatarsus 4

description: Underdevelopment (hypoplasia) of the fourth toe.


Papule

description: A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.


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


Triangular nail

description: Nail so wide as long with a distal part presenting an acute angle.


Valinuria

description: Urine valine level above the normal range.


eosinophilic granuloma

description: A clinical variant of Langerhans cell histiocytosis characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults usually presenting with a lytic bone lesion. The etiology is unknown. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu which includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes.


name: Anterior predominant thick cortex pachygyria

description: Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes.


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

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


Enlarged thalamic volume

description: An increase in the quantity of space occupied by the thalamus.


Secondary microcephaly

description: Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.


Abnormal inflammatory response

description: Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.


Onychogryposis of toenails

description: Thickened toenails.


Multilobulated spleen

description: The fetal spleen is lobulated, and these lobules normally disappear before the birth. Lobulation of the spleen may persist into adult life and be typically seen along the medial part of the spleen. A persisting lobule results in a variation in shape of the spleen.


Anterior pituitary dysgenesis

description: Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis.


Abnormal lymphatic vessel morphology

description: A structural anomaly of the vessel that contains or conveys lymph fluid.


Crystalluria

description: The presence of crystals in the urine.


salivary gland disorder

description: A disease involving the saliva-secreting gland.


Focal autonomic seizure with erection

description: A type of focal autonomic seizure characterized by penile erection as the initial semiological feature.


name: Contractures of the proximal interphalangeal joint of the 5th toe

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


cloacal exstrophy

description: A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations.


Mobitz type I atrioventricular block

description: A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a progressively lengthening PR interval prior to the block of an atrial impulse. (CDISC)


Elevated CSF sarcosine concentration

description: Concentration of sarcosine in the cerebrospinal fluid (CSF) above the upper limit of normal.


name: Abnormality of the autonomic nervous system

description: An abnormality of the autonomic nervous system.


Orange urine

description: An abnormal orange color of urine.


Giant somatosensory evoked potentials

description: An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials.


name: hematopoietic and lymphoid system neoplasm

description: Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003


Treacher-Collins syndrome

description: A congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.


name: Blood pressure substantially higher in arms than legs

description: An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the arms being much higher than the blood pressure measure in the legs. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm.


name: Increased urinary O-linked sialopeptides

description: Excretion of peptides conjugated to sialic acid in the urine.


preauricular fistulae, congenital

description: A pit or dimple in front of the ear of a newborn is a common finding; rarely, such a dimple may get infected, which will be manifested with redness and swelling and will require medical attention.


Abnormality of internal jugular vein

description: An abnormality of an internal jugular vein.


Ectopic kidney

description: A developmental defect in which a kidney is located in an abnormal anatomic position.


Myocardial lymphocytic infiltration

description: An increase in the number of lymphocytes in myocardial tissue.


name: Renal interstitial calcium phosphate deposits

description: The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits.


Abnormal fingernail morphology

description: An abnormality of the fingernails.


Anal margin neoplasm

description: A tumor of the anal margin.


Axonal loss

description: A reduction in the number of axons in the peripheral nervous system.


description: Decreased proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.


Absent speech

description: Complete lack of development of speech and language abilities.


Conotruncal defect

description: A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle.


name: Elevated urinary pyrroline hydroxycarboxylic acid level

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


Abnormal sleep architecture

description: Interruptions during the various stages of sleep.


ovarian gonadoblastoma

description: A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites.


hemolytic-uremic syndrome

description: Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia.


name: Linear arrays of macular hyperkeratoses in flexural areas


Juvenile colonic polyposis

description: The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands.


megalencephaly

description: A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome).


polymorphic light eruption

description: A red, edematous rash that occurs on areas of the skin with recent exposure to sunlight.


Abnormal liver morphology

description: Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage.


Elevated brain glycine level by MRS

description: An increase in the level of glycine in the brain identified by magnetic resonance spectroscopy (MRS).


Sinus bradycardia

description: Bradycardia related to a mean resting sinus rate of less than 50 beats per minute.


axonal neuropathy

description: Any nerve disorder affecting the axon of a nerve.


description: A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset.


Follicular bronchiolitis

description: Follicular bronchiolitis is a polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the is characterized by the development of lymphoid follicles with germinal centers in walls of the small airways.


Bronchopulmonary anastomosis

description: Abnormal arterial anastomosis (connection) between bronchial and pulmonary arteries.


atrioventricular block

description: A heart block that is initiated in the atrioventricular node.


Arterial thrombosis

description: The formation of a blood clot inside an artery.


Increased urinary 3-methylhistidine

description: Increased concentration of 3-methylhistidine in the urine.


viral encephalitis

description: Encephalitis resulting from viral infection.


Sleep onset insomnia

description: Difficulty initiating sleep, that is, increased sleep onset latency, refers to the condition where it takes 30 minutes or more to fall asleep.


Nitrituria

description: Presence of nitrites in the urine.


name: Elevated circulating decanoylcarnitine concentration

description: Concentration of decanoylcarnitine (C10:0) in the blood circulation above the upper limit of normal.


name: Abnormal superficial temporal artery morphology

description: Any structural abnormality of a superficial temporal artery, originating from the external carotid artery and passing over the zygomatic process. The superficial temporal artery is located on the superficial parts of the forehead and sides of the head and face.


left ventricular noncompaction

description: Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.


name: Shortening of all middle phalanges of the toes

description: Abnormal shortening of all middle phalanges of toes.


Seafood allergy

description: Hypersensitivity in form of an adverse immune reaction against seafood.


name: Abnormal portal venous system morphology

description: Any structural anomaly of the portal venous sytem, which comprises all of the veins draining the abdominal part of the digestive tract, including the lower esophagus but excluding the lower anal canal. The portal vein conveys blood from viscera and ramifies like an artery at the liver, ending at the sinusoids. Tributaries of the portal vein, which make up the portal venous system, are the splenic, superior mesenteric, left gastric, right gastric, paraumbilical, and cystic veins.


Congenital intracerebral calcification

description: The presence of calcium deposition within brain structures that is present already at the time of birth.


Axillary pterygium

description: Presence of a cutaneous membrane (flap) in the armpit.


Titubation

description: Nodding movement of the head or body.


rhabdomyoma

description: A benign mesenchymal tumor arising from skeletal or cardiac muscle.


name: Unbalanced atrioventricular canal defect

description: Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced).


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


name: Renal interstitial globotriaosylceramide inclusions

description: Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC).


Bilateral vestibular schwannoma

description: A bilateral vestibular schwannoma (acoustic neurinoma).


blood coagulation disease

description: A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood.


Pathologic fracture

description: A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.


Klippel-Feil syndrome

description: A congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy.


name: Amplification of emotional responsiveness

description: An increase in the tendency of a person to display emotional responsiveness or emotional empathy towards others during interpersonal interactions as compared to that person's previous norm.


Postaxial polysyndactyly of foot

description: Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe).


Pruritus on foot

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


Antepartum hemorrhage

description: Significant maternal hemorrhage/bleed in the second half of pregnancy and prior to the birth of the baby.


Microsleep

description: Sudden onset of extreme drowsiness or falling asleep during the day for a short period of time.


name: Regional left ventricular wall motion abnormality

description: An abnormal motion of a segment of the left ventricle during the cardiac cycle.


Tube feeding

description: Feeding problem necessitating food and nutrient delivery via a tube.


Morbus Koehler

description: Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis.


name: Abnormal amyloid beta 42 peptide CSF concentration

description: Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta42, which is 42 amino acids in length, is the longer form.


name: Decreased proportion of CD8-positive T cells

description: A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells.


Eyelid myoclonus

description: Marked, involuntary jerking of the eyelids.


Abnormal CSF arginine concentration

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


name: Fractured distal phalanx of manual digit 5

description: A partial or complete breakage of the distal phalanx of manual digit 5.


piebaldism

description: Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.


Digestive system neoplasm

description: A tumor (abnormal growth of tissue) of the digestive system.


Abnormal urine cytology

description: An anomalous finding in the examination of the urine for cells.


name: Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio

description: A decreased amount of the urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) as compared to hydroxylysyl-pyridinoline (HP, or pyridinoline PYD). Both are established biochemical markers of osteoclastic bone resorption and collagen degradation.


name: Substantia nigra hypointensity on susceptibility-weighted imaging

description: Hypointence (dark) appearance of the substantia nigra inmagnetic resonance imaging using susceptibility weighted imaging (SWI).


Amniotic Sheet

description: A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion.


Pituitary thyrotropic cell adenoma

description: A type of pituitary adenoma that produces thyroid stimulating hormone (TSH).


name: Focal impaired awareness autonomic seizure

description: A focal autonomic seizure characterized by impaired awareness at some point within the seizure.


Fractured middle phalanx of pes

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


name: Focal aware cognitive seizure with expressive dysphasia/aphasia

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


Splayed superior cerebellar peduncle

description: Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle.


Jejunitis

description: Inflammation of the lining of the middle section of the small intestine.


Elevated urinary 7-biopterin level

description: An abnormally increased amount of 7-biopterin in the urine.


Cementoma

description: An odontogenic tumor of the cementum of tooth.


name: Neonatal electro-clinical non-motor seizure


name: EEG with hyperventilation-induced generalized epileptiform discharges

description: Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


Tooth malposition

description: Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth.


Morbus Kienboeck

description: Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum.


bladder neck obstruction

description: Blockage of the opening between the bladder and the urethra resulting in the reduction or prevention of the urine flow from the bladder into the urethra.


Imperforate tricuspid valve

description: A tricuspid valve that has failed to open.


Heparan sulfate excretion in urine

description: An increased concentration of heparan sulfates in the urine.


name: Mild malformation of cortical development

description: A malformation of cortical development characterized by mild abnormalities of the cortex: excessive heterotopic neurons in Layer 1 or microscopic neuronal clusters or excess of single neurons of normal morphology in deep white matter.


Fatigable weakness of speech muscles

description: A type of weakness of the muscles involved in speech 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.


Abnormal ejaculation

description: Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract.


Abnormal Schwann cell morphology

description: Abnormality of schwann cells, glial cells that ensheath axons of neurons in the peripheral nervous system and are necessary for their maintenance and function.


Palmoplantar blistering

description: A type of blistering that affects the skin of the palms of the hands and the soles of the feet.


Hyporeflexia of lower limbs

description: Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.


Recurrent pyelonephritis

description: Repeated episodes of pyelonephritis.


Isolated diastolic hypotension

description: A decrease in diastolic blood pressure (<60 mmHg) without a decrease in systolic blood pressure (> or = to 100 mmHg).


Periungual erythema

description: Erythema (redness of the skin caused by hyperemia in superficial capillaries) in the region surrounding a fingernail or toe nail.


Elevated urinary uridine level

description: Increased levels of urinary uridine, a ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N1 glycosidic bond.


Abnormal vagina morphology

description: Any structural abnormality of the vagina.


Multiple palmar creases

description: The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease).


Hypoplastic colon

description: Underdevelopment of the colon.


name: Abnormal gastrointestinal vascular morphology


right atrial isomerism

description: A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12.


Empty ovarian follicle

description: A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization.


Decreased diastolic blood pressure

description: Abnormal decrease in diastolic blood pressure.


name: Atrophy/Degeneration involving the spinal cord


Abnormal permanent molar morphology

description: An abnormality of morphology of permanent molar.


name: Aplasia of the middle phalanges of the toes


Abnormal metatarsal morphology

description: Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes).


Deep S wave in lead V5

description: Abnormal depth of the S wave in lead V5 of the electrocardiogram.


Curvilinear pericallosal lipoma

description: A type of pericallosal lipoma that is thin and curves around the posterior end of the splenium of the corpus callosum.


Abnormal urine sodium concentration

description: An abnormal concentration of sodium in the urine.


Non-epileptic seizure

description: Psychogenic non-epileptic seizures (PNES) are not abnormal perceptions or abnormal beliefs/judgments, nor are they epileptic attacks. They are behaviors that simulate epileptic attacks, not fully consciously.


Hypoplasia of the fallopian tube

description: Developmental hypoplasia of the fallopian tube.


maligant granulosa cell tumor of ovary

description: An aggressive granulosa cell tumor that arises from the ovary and metastasizes to other anatomic sites.


Decreased glomerular filtration rate

description: An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.


Coarsened hepatic echotexture

description: The appearance of the liver in sonographic images is normally uniform. This term applies when there is an irregular or non-uniform appearance of the liver parenchyma in liver sonography.


Abnormal metabolic brain imaging by MRS

description: An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS).


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


central neurocytoma

description: Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good.


name: Elevated circulating sitosterol concentration

description: An increased concentration of beta-sitosterol in the blood circulation.


Bone 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 a bone.


Molar incisor malformation

description: Molar incisor malfomation (MIM) is composed of normal crown with marked cervical constriction, thin, narrow short roots which is a combination of signs that occurs in deciduous and permanent molars.


Tension-type headache

description: A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs.


name: Abnormal tricuspid valve annulus morphology

description: Any structural anomaly of the annulus of the tricuspid valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.


Penile corporal blood gas ischemia

description: Partial pressure of oxygen (pO2) in cavernous blood of the penis is below the lower limit of normal.


basal encephalocele

description: Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares.


Intrascapular pain

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


Alkaline urine

description: Urine pH of 8 or higher.


name: Bullet-shaped distal phalanx of the hallux

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


Milia

description: Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.


Abnormal digit morphology

description: A morphological abnormality of a digit, i.e., of a finger or toe.


thrombophlebitis

description: Inflammation of the veins associated with the presence of a thrombus.


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

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


name: Increased groin pigmentation with raindrop depigmentation


Fractured knee

description: A partial or complete breakage of the knee.


name: Impaired renal tubular reabsorption of sodium

description: Increased fractional excretion (FE) of sodium in the urine. The FE of sodium is the percentage of the sodium filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine sodium, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption.


aneurysm of sinus of Valsalva

description: Sinus of Valsalva aneurysm (SVA) is a rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.


name: Fractured middle phalanx of manual digit 5

description: A partial or complete breakage of the middle phalanx of manual digit 5.


Medullary peritubular capillaritis

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


name: Renal interstitial eosinophil infiltration

description: Increased numbers of eosinophils in the interstitial tissues of the kidney.


Egg allergy

description: Hypersensitivity in form of an adverse immune reaction against eggs.


hamartoma

description: A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern.


muscular dystrophy

description: Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities.


telogen effluvium

description: A scalp hair loss condition characterized by excessive shedding of hair in the resting phase of growth, usually following a fever or major body stress.


congenital arteriovenous fistula

description: An abnormal, epithelial-lined connection between an artery and vein that is present at the time of birth.


acute leukemia

description: A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).


Perifollicular fibroma

description: Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle.


secondary hypertrophic osteoarthropathy

description: Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)


Neoplasm of the outer ear

description: A tumor (abnormal growth of tissue) of the outer ear.


name: Abnormalities of placenta or umbilical cord

description: An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta).


name: Arcuate vein medial/intimal coagulative necrosis

description: A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.


Arcuate artery intima/media necrosis

description: Death of tissue in the inner or middle layer of the arcuate artery of the kidney.


Generalized-onset motor seizure

description: A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.


Elevated urine hyaluronic acid level

description: Excessive amount of hyaluronic acid in urine.


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


name: Pachygyria with 5-10 mm cortical thickness

description: Pachygyria with a mildly thickened cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age.


thyroglossal duct cyst

description: A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck.


Intratubular hemoglobin casts

description: A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On H&E (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A.


name: Anomalous muscle bundle of the right ventricle

description: An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract.


Increased CSF arginine concentration

description: Abnormally increased levels of arginine in cerebrospinal fluid.


Abnormal arcuate vein morphology

description: Any structural anomaly of the arcuate vein. The arcuate veins cross traverse along the corticomedullary junction (at the border of the kideny cortex and medulla).


Peg-shaped maxillary lateral incisors

description: A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter


description: Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells.


name: Elevated CSF alpha-crystallin B chain concentration

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


Renal interstitial edema

description: Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density.


Multiple small medullary renal cysts

description: The presence of many cysts in the medulla of the kidney.


osteochondrodysplasia

description: A term referring to disorders characterized by abnormalities in the development of bones and cartilage.


Elevated urinary guanosine level

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


dermatitis, atopic

description: Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage.


idiopathic camptocormia

description: Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology.


name: Renal arteriolar lumen cholesterol emboli

description: Needle-like or slit-like clefts within the interior space of arterioles of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.


propionic acidemia

description: Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.


Sparse scalp hair

description: Decreased number of hairs per unit area of skin of the scalp.


name: Decreased proportion of CD8-positive, alpha-beta TEMRA T cells

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


EMG: myopathic abnormalities

description: The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.


name: Focal impaired awareness motor seizure with dystonia

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


name: Abnormal circulating dehydroepiandrosterone concentration

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


Impaired continence

description: Partial or total incontinence of bowel or bladder.


Fluctuations in consciousness

description: Changes in one's level of awareness and responsiveness to their environment.


spastic diplegia

description: A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy.


Myocardial multinucleated giant cells

description: The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin.


Supernumerary cusp

description: Additional cusps of a dental crown.


Agenesis of canine

description: Agenesis of canine tooth.


Curved 3rd toe phalanx

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


name: Fragmentation of the epiphyses of the 2nd toe


Abdominal colic

description: A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity.


name: Extracranial internal carotid artery dissection

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


Vaginal myxoma

description: A myxoma (tumor of primitive connective tissue) localized in the vagina.


name: Bullet-shaped middle phalanx of the 3rd toe

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


name: Neonatal electro-clinical autonomic seizure

description: Neonatal electro-clinical non-motor autonomic seizure is a type of neonatal electro-clinical seizure with predominant features of autonomic alterations, involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor, and thermoregulatory functions. May present as apnea.


Abnormal meiosis

description: Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells.


name: Aplasia/hypoplasia of the uterine cervix

description: Congenital absence or underdevelopment of the uterine cervix.


Increased circulating IgM level

description: An abnormally increased level of immunoglobulin M in blood.


Palmar telangiectasia

description: The presence of telangiectases on the skin of palm of hand.


Mild expressive language delay

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


Morphea

description: Isolated patches of hardened skin (scleroderma).


Frey syndrome

description: An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with parotid neoplasms, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5)


Altman type II sacrococcygeal teratoma

description: A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component.


amniotic band syndrome

description: A group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies.


polyp of ureter

description: A polyp that involves the ureter.


Choking episodes

description: Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing.


Axillary freckling

description: The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.


Intestinal bleeding

description: Bleeding from the intestines.


Achilles tendon contracture

description: A contracture of the Achilles tendon.


Thymus hyperplasia

description: Enlargement of the thymus.


Broad foot

description: A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.


Naevus flammeus of the eyelid

description: Naevus flammeus localized in the skin of the eyelid.


oromandibular dystonia

description: Oromandibular dystonia (OMD) is a form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles.


name: Arcuate artery intima/media liquefactive necrosis

description: A type of arcuate artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.


Dilatation of the ductus arteriosus

description: Ductus arteriosus aneurysm (DAA) is a saccular dilatation of the ductus arteriosus. DAA can be either congenital or acquired (e.g. as a complication of surgical closure of a patent ductus arteriosus). Although the majority of patients with congenital DAA are asymptomatic and have a benign course, severe complications, such as rupture or thromboembolism, can occur. DAA is likely to emerge in the third trimester from the aortic junction of the DA, extending towards its pulmonary end.


Morbilliform rash

description: An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days.


neoplasm of middle ear

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


pleural empyema

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


Violent behavior

description: Conduct and/or behavior, both verbal and non-verbal, including but not limited to verbal and/or physical aggression, attacks, threats, harassment, intimidation, and other disruptive behaviors in any form or through any medium, that cause or have the potential to cause a reasonable person to fear physical harm from any individual(s) or group(s) towards any person(s) or property. This is commonly defined as a violent act characterized by the use of physical force, anger, or sudden intense activity.


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.


Nail dysplasia

description: The presence of developmental dysplasia of the nail.


Oculoclonic status epilepticus

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


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.


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.


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.


Ebstein anomaly

description: Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction.


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.


Severe global developmental delay

description: A severe delay in the achievement of motor or mental milestones in the domains of development of a child.


name: Atrophy/Degeneration affecting the brainstem


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.


protein S deficiency

description: Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulatednormally and affected individuals have an increased risk of forming a blood clot called a thrombosis. People at risk to haveprotein S deficiency are those with an individual or family history of multiple blood clots in the veins. Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot.


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).


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.


dysembryoplastic neuroepithelial tumor

description: A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface.B


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).


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.


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,


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).


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.


Hearing abnormality

description: An abnormality of the sensory perception of sound.


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: 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.


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.


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.


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).


Shortened sleep phase

description: A tendency to sleep fewer hours than usual while feeling well-rested.


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.


salpingitis

description: Acute or chronic inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy.


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.


aortic atherosclerosis

description: A atherosclerosis that involves the aorta.


Toe dactylitis

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


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.


spermatocele

description: A benign testicular cyst that is located in the epididymis, and which contains serous fluid, lymphocytes, spermatozoa, and debris.


congenital laryngomalacia

description: Increased collapsibility of the larynx.


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.


Perivascular fibrosis

description: The presence of thick collagen bundles around blood vessels, often in an onion-skin type whorling pattern.


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.


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.


Abnormal neck physiology

description: Any functional anomaly of the neck region.


Cholesterol crystalluria

description: The presence of cholesterol crystals in the urine.


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.


name: Abnormal pulmonary valve cusp morphology

description: Any structural anomaly of the pulmonary valve leaflets.


name: adnexal spiradenoma/cylindroma of a sweat gland

description: A benign sweat gland neoplasm usually occurring in the scalp or the face. It may present as solitary or multiple papular or nodular lesions. It may be a sporadic lesion or part of Brooke-Spiegler syndrome. It arises from the dermis and has a multinodular, circumscribed appearance. The nodules contain basaloid cells with small, dark nuclei. Complete excision is usually curative.


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


chronic mucocutaneous candidiasis

description: Mucocutaneous candidiasis that is persistent or long-standing in nature.


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.


plasmacytoma

description: Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations.


transient ischemic attack

description: A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit.


name: Focal necrosis of right ventricular muscle cells


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.


Scarring

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


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.


Myoclonus

description: Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.


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.


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.


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


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.


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).


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


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: 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: Abnormal sensory nerve conduction velocity


Coffee ground vomitus

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


Uterine adenofibroma

description: A rare benign mullerian mixed tumor of the uterus composed of benign epithelial and mesenchymal components.


name: Agenesis of primary maxillary central incisor

description: Agenesis of upper central primary incisor.


Abnormal renal physiology

description: An abnormal functionality of the kidney.


Abnormal thyroid morphology

description: A structural abnormality of the thyroid gland.


Diffuse telangiectasia

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


Abnormal fifth toe morphology

description: An anomaly of the little toe.


calcinosis

description: Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer.


Glomerular extracapillary fibrin

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


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.


epidermal appendage tumor

description: A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands.


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.


renal tubular acidosis

description: A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets.


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.


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.


Abnormal left ventricular function

description: Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole.


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.


hyperaldosteronism

description: Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia.


Fractured distal epiphysis of radius

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


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.


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.


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.


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.


Clicking tinnitus

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


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.


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.


severe combined immunodeficiency

description: Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.


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.


name: Axillary and groin hyperpigmentation and hypopigmentation


lymphangiectasis

description: Dilatation of the lymphatic vessels.


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.


Supraventricular arrhythmia

description: A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm.


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.


Abnormal caudate nucleus morphology

description: Any structural abnormality of the caudate nucleus.


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.


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.


Lhermitte-Duclos disease

description: Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.


Increased urinary cortisol level

description: Abnormally increased concentration of cortisol in the urine.


Shoulder dystocia

description: Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex.


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.


disseminated intravascular coagulation

description: A pathological process where the blood starts to coagulate throughout the whole body. This depletes the body of its platelets and coagulation factors, and there is an increased risk of hemorrhage.


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.


leukodystrophy

description: Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems.


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.


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.


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


inborn mitochondrial myopathy

description: Myopathy caused by mitochondrial abnormalities.


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.


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: Contracture of the interphalangeal joint of the hallux

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


Left ventricular systolic dysfunction

description: Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent.


name: Elevated urinary phenylpyruvic acid level

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


Ballooning hepatocyte degeneration

description: Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarefied, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62.


Decreased urinary norepinephrine level

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


Fractured distal tarsal bone

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


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


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


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


Esophageal stenosis

description: An abnormal narrowing of the lumen of the esophagus.


Supernumerary testes

description: The presence of more than two testes.


medulloepithelioma

description: A rare, usually aggressive malignant embryonal neoplasm of the central nervous system occurring in children. It is characterized by the presence of neuroepithelial cells which form papillary, trabecular, or tubular structures and absence of C19MC amplification. Symptoms include headache, nausea, and vomiting.


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.


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).


Paranoia

description: An inappropriate feeling of being persecuted or being the subject of hostility from others.


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


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.


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.


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.


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.


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.


Neoplasm of striated muscle

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


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.


Decreased urinary metaepinephrine level

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


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.


Localized periodontitis

description: A localized form of periodontitis.


Absent distal phalanx of the 3rd toe

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


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.