persistent fetal circulation syndrome

description: A cardiopulmonary disorder characterized by systemic arterial hypoxemia secondary to pulmonary hypertension and extrapulmonary right to left shunting across the foramen ovale and ductus arteriosus.


name: Enteric intraneuronal nuclear inclusion bodies

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

description: Aggregates of stainable substances (proteins) in the nuclei of enteric neurons.


Fused nails

description: A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature.


46,XY sex reversal 11

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

description: Any 46,XY complete gonadal dysgenesis in which the cause of the disease is a mutation in the DHX37 gene.


Abnormal periodontium morphology

description: Any abnormality of the periodontium.


Dermal immune complex deposition

description: Accumulation of antigen-bound antibody in the skin.


atrial flutter

description: A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate of 240-340 beats per minute. Multiple P waves typically appear in the inferior leads in a saw tooth-like pattern between the QRS complexes. (CDISC)


myxoid liposarcoma

description: A liposarcoma characterized by the presence of round non-lipogenic primitive mesenchymal cells and small signet ring lipoblasts within a myxoid stoma with a branching vascular pattern. This category includes hypercellular lesions with round cell morphology, formerly known as round cell liposarcoma.


syringomyelia

description: Syringomyelia is characterized by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS).


Decreased plasma free carnitine

description: A decreased concentration of free (unbound) carnitine in the blood.


Visceral epithelial hyaline droplets

description: Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells.


Aplasia/Hypoplasia of the vagina

description: Aplasia or developmental hypoplasia of the vagina.


Decreased hepatic echogenicity

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


Addictive methylphenidate use

description: Addiction to methylphenidate.


Cerebellar gliosis

description: Focal proliferation of glial cells in the cerebellum.


Aplasia of lymphatic vessels

description: Aplasia (absence) of the lymphatic vessels.


Abnormal CSF biopterin concentration

description: Abnormal concentration of biopterin in the cerebrospinal fluid (CSF).


Unifocal splenic abscess

description: Single (solitary) abscess in the spleen.


name: Fragmentation of the epiphyses of the 4th toe


Abnormal putamen morphology

description: Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum.


Mottled pigmentation

description: Patchy and irregular skin pigmentation.


Asynergia

description: A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed.


anencephaly 1

description: Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.


Paramedian lip pit

description: Depression located paramedially on the vermilion of a lip.


name: Stippling of the epiphysis of the distal phalanx of the 5th toe

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 5th toe.


Necrotizing vasculitis

description: A histopathological finding characterized by inflammation of the arterial and/or capillary and/or venous blood vessels, leading to a change in the vascular wall as a whole.


name: Focal impaired awareness sensory seizure

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


name: congenital multicore myopathy with external ophthalmoplegia

description: An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as "minicores" on ATPase staining as a result of focal defects in oxidative activity.


Chronic villitis

description: Villitis of unknown etiology (synonymous with villitis of unknown etiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis.


name: Abnormality of urine calcium concentration

description: An abnormality of calcium concentration in the urine.


Impaired renal concentrating ability

description: A defect in the ability to concentrate the urine.


Unilateral cleft lip

description: A non-midline cleft of the upper lip on one side only.


Skin-colored papule

description: A papule with the same color as the surrounding skin.


Erratic myoclonus

description: A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous.


name: Increased aspartate family amino acid level in urine

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


Abnormal myelination

description: Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.


hepatic encephalopathy

description: Hepatic encephalopathy is a syndrome observed in some patients with cirrhosis. It is defined as a spectrum of neuropsychiatric abnormalities in patients with liver dysfunction, when other known brain disease has been excluded.Signs and symptomsmay be debilitating, and they can begin mildly and gradually, or occur suddenly and severely. They may includepersonality or moodchanges, intellectual impairment, abnormal movements,a depressed level of consciousness, and other symptoms.There are several theories regarding the exact cause, butdevelopment of the condition isprobablyat least partiallydue to the effect of substances that are toxic to nerve tissue (neurotoxic), which are typically present with liver damage and/or liver disease. Treatment depends upon the severity of mental status changes and upon the certainty of the diagnosis.


Paramesangial deposits

description: Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane.


Abnormal CSF glutamine concentration

description: Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid.


Coronary sinus atrial septal defect

description: An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus.


name: Aplasia of posterior communicating artery

description: A developmental anomnaly characterized by the lack of development of the posterior communicating artery.


Single ventricle

description: The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle.


Mild neurosensory hearing impairment

description: The presence of a mild form of sensorineural hearing impairment.


name: Bicarbonate-wasting renal tubular acidosis


Splenic necrosis

description: Cell dealth (necrosis) located in the spleen.


name: Recurrent trauma-related distressing dreams

description: Recurrent distressing dreams occur when the content and/or emotional impact of the dream is connected to a traumatic event or events.


P pulmonale

description: The presence of tall, peaked P waves in EKG lead II.


Short fourth metatarsal

description: Short fourth metatarsal bone.


Recurrent intrapulmonary hemorrhage

description: A recurrent hemorrhage occurring within the lung.


Sleep abnormality

description: An abnormal pattern in the quality, quantity, or characteristics of sleep.


name: Renal tubular herpes simplex virus inclusions

description: Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis.


Risky behavior

description: Engaging in dangerous, risky, and potentially self-damaging activities, without considering the consequences, is a sign of recklessness. It involves a disregard for one's limitations and a denial of personal danger.


hypopituitarism

description: A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions.


name: Elevated circulating very long-chain acylcarnitine concentration

description: Concentration of very long-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Very long-chain acylcarnitines have twentyone or more carbon atoms in the acyl-chain (C21 and higher),


Elevated urinary histamine level

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


Enlarged tonsils

description: Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat.


arthropathy

description: Any disorder of the joints.


name: Focal impaired awareness seizure with dissociation at onset

description: A focal cognitive epileptic seizure with dissociation at the onset of the seizure and with impairment of awareness at at some point during the seizure.


Irregular menstruation

description: Abnormally high variation in the amount of time between periods.


EEG with occipital focal spikes

description: EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region.


Mulberry molar

description: Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry.


Abnormal CSF glycine concentration

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


Fractured distal phalanx

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


name: Elevated CSF 5-hydroxymethyluracil concentration

description: The concentration of 5-hydroxymethyluracil in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Self-mutilation

description: Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die.


Increased urinary hexanoic acid level

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


otitis media with effusion

description: Otitis media associated with accumulation of fluid in the middle ear.


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

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


Abnormal lip morphology

description: An abnormality of the lip.


Hypocitraturia

description: A lower than normal concentration of citrate(3-) in the urine.


name: Aplasia/Hypoplasia of the corpus callosum

description: Absence or underdevelopment of the corpus callosum.


Small intestine mass

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


Neutral hyperaminoaciduria

description: The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine.


2-4 toe cutaneous syndactyly

description: A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4.


Hemiballismus

description: Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements.


Lack of interest in peers

description: Lack of interest in peers of comparable age and social groups is evident when an individual, such as a child, shows more interest in socializing with adults rather than children their own age.


Left atrial isomerism

description: In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest.


Aplasia/Hypoplasia of metatarsal bones

description: Absence or underdevelopment of the metatarsal bones.


Pancreatic fistula

description: An abnormal communication between the pancreas and another organ or cavity.


Conical maxillary incisor

description: An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both.


name: Metachromatic intraneuronal lipid deposits

description: Accumulation of metachromatically staining lipid material in neurons. This finding is typically ascertained in a peripheral nerve.


Abnormal labia minora morphology

description: An anomaly of the labia minora, the folds of skin between the outer labia.


name: Impaired renal tubular reabsorption of glucose

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


Dural tail sign

description: This sign represents thickening and enhancement of the dura mater in continuity with a mass, which on MR images, gives the appearance of a tail arising from the mass. The dural tail is thought to represent reactive change; however, it may also be due to tumor invasion. Three criteria need to be met for a positive dural tail sign: the tail should be seen on two successive images through the tumor, it should taper away from the tumor, and it must enhance more than the tumor.


factor X deficiency

description: A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood.


Hyperextensible skin

description: A condition in which the skin can be stretched beyond normal, and then returns to its initial position.


Leung cusp

description: An additional cusp located in the middle of the occlusal surface.


Malar rash

description: An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose.


Adactyly

description: The absence of all phalanges of all the digits of a limb and the associated soft tissues.


name: Eosinophilic infiltration of the esophagus

description: Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus.


Large keratohyaline granules

description: Abnormally large keratohyalin granules (KHG). KHG are typically present in the stratum granulosum of the epidermal layer of the skin (and epithelium of the mucosae). KHG are protein structures found in the keratinocytes of the stratum granulosum.


Radiculomegaly

description: Tooth root length more than 2 SD above mean, or subjectively apparently increased tooth root length.


Vasculitis by histology

description: Vasculitis categorized according to type of histological abnormality.


myeloproliferative neoplasm

description: A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008)


spinal meningioma

description: Spinal meningioma isa rare type of spinal cord cancer. The spinal cord is part of the central nervous system. This tumor often affects middle-aged women. Tumors of the spinal cord can be either primary or arise from other primary tumors (metastatic), and are typically slow growing. The initial signs and symptoms include headacheand recent onset of seizures. Other features are motor deficits, sensory deficits, pain, and sphincter dysfunction. The thoracic spine (middle back) is the most common site, followed by the cervical spine (neck). These tumors are rarely seen in the lumbar region (lower back). T he only proven risk factor in the development of meningioma is exposure to ionizing radiation. Also, patients with neurofibromatosis type 2 are at increased risk of developing meningioma. Surgery is the treatment of choice and complete tumor removal is reached in the vast majority of patients. The prognosis after surgical resection is excellent.


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


name: EEG with temporal epileptiform discharges

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


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


Splenic calcification

description: Calcification, that is, pathological deposition of calcium salts in the spleen.


Elevated urine suberylglycine level

description: Level of suberylglycine in urine above upper limit of normal.


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


Praxis-induced seizure

description: A seizure precipitated by complex, cognition-guided tasks often involving visuomotor coordination and decision-making.


Increased cardiac index

description: An elevated cardiac index, defined as cardiac output divided by body surface area.


Paroxysmal tachycardia

description: An electrocardiographic finding of episodic tachycardia with abrupt onset and termination.


postaxial polydactyly of fingers

description: Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).


Fusion of gums

description: A congenital defect with an abnormal joining of the gums of the upper and lower jaw.


Impaired ability to plan

description: Impaired ability to anticipate future events, implement instructions or goals, and develop appropriate steps ahead of time in order to carry out a task or activity.


Ventricular couplet

description: Two consecutive premature ventricular contractions (PVCs) with no intervening normal beats.


keratosis pilaris atrophicans

description: An uncommon form of keratosis pilaris in which there are scar-like follicular depressions and loss of hair.


Infrequent social initiations

description: Social initiation refers to the ability to begin interactions with other people. This term refers to a reduction in the frequency with which an individual attempts to begin interactions. The term should only be used for individuals who are assessed to have sufficient intellectual and language skills to interact with others.


Blind vagina

description: The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia.


nonsyndromic congenital nail disorder 2

description: The natural longitudinal (posterodistal) convex arch is not present or is inverted.


Abnormality of the middle ear

description: An abnormality of the middle ear.


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

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


Nasal regurgitation

description: Regurgitation of milk through the nose.


Elevated urinary aminoisobutyric acid

description: An increased amount of 3-aminoisobutyric acid in the urine.


name: Gonadal tissue inappropriate for external genitalia or chromosomal sex


name: Abnormal peritubular capillary morphology

description: Anomalous structure of the capillaries that are derived from the efferent arteriole, forming a capillary network that surrounds the distal portions of the nephron tubule,


Large basal ganglia

description: Increased size of the basal ganglia.


name: Focal aware cognitive seizure with dyslexia/alexia

description: A focal cognitive seizure with dyslexia / alexia characterized by retained awareness throughout the seizure.


Abnormality of skin pigmentation

description: An abnormality of the pigmentation of the skin.


nominal aphasia

description: Impaired ability to retrieve words; in particular, an inability to recall the names of objects and people.


Interstitial pneumonitis

description: Inflammation of interstitial lung tissue, usually associated with infection.


B lymphocytopenia

description: An abnormal decrease from the normal count of B cells.


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

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


Increased CSF citrulline concentration

description: Abnormally increased levels of citrulline in cerebrospinal fluid.


Ectopic ovary

description: Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels.


name: isolated anterior cervical hypertrichosis

description: Anterior cervical hypertrichosis is a rare form of localized hypertrichosis characterized by hair growth near the laryngeal prominence during childhood.


name: Increased amyloid beta 42 peptide CSF concentration

description: An elevation above the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF).


Absent fifth fingernail

description: Absence of nail of little finger.


Elevated CSF ammonia concentration

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


name: Coronary cameral fistula to right ventricle

description: An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle.


Renal cortical atrophy

description: Atrophy of the cortex of the kidney.


oligospermia

description: Decreased number of spermatozoa in the semen.


Klazomania

description: Involuntary attacks of compulsive paroxysmal shouting. The shouting behaviors may be extremely loud and not related to the ongoing mental state of the affected individual. Shouting episodes may occur in bouts and last for several hours.


name: Abnormality of the fourth metatarsal bone


Prominent calcaneus

description: Protruding heel bone, or calcaneus.


Abnormality of temperature regulation

description: An abnormality of temperature homeostasis.


Abnormal homeostasis

description: An anomaly in the processes involved in the maintenance of an internal equilibrium.


Abnormal olfactory lobe morphology

description: A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell.


Fractured manual digit 1 phalanx

description: A partial or complete breakage of the manual digit 1 phalanx.


Hyperprostaglandinuria

description: An increased concentration of prostaglandin in the urine.


Helicobacter pylori infection

description: A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach.


name: Irregularly shaped keratohyaline granules

description: Abnormal shape of keratohyaline granules in dermal keratinocytes.


Hypersarcosinuria

description: An elevated urinary concentration of sarcosine.


Prolonged bleeding after surgery

description: Bleeding that persists longer than the normal time following a surgical procedure.


Keratocystic odontogenic tumor

description: An intraosseous odontogenic neoplasm that usually arises from the mandible. It is characterized by the presence of a single or multiple cysts lined with parakeratinized stratified squamous epithelium. The neoplastic lesions may be solitary or multiple. It has the potential for aggressive behavior, local destruction, and recurrence.


Abnormal urine osmolality

description: A deviation from the normal range of concentration of particles in urine.


Interlobular vein medial hypertrophy

description: Increased thickness of middle layer of the interlobular veins of the kidney.


Partial agenesis of the corpus callosum

description: A partial failure of the development of the corpus callosum.


Widened cerebellar subarachnoid space

description: An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum.


name: Moderately reduced left ventricular ejection fraction

description: A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle, defined as a left ventricular ejection fraction of 30-39 percent.


Nephrogenic rest

description: Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney.


Calcified amorphous tumor of the heart

description: A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue.


name: Focal sensory seizure with olfactory features

description: Seizures characterized by olfactory phenomena as its first clinical manifestation.


name: Abnormal glomerular mesangium morphology

description: An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries.


name: Abnormal urine sebacic acid concentration

description: Abnormal concentration of sebacic acid in the urine.


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


name: Skin fragility with non-scarring blistering


Elevated myocardial iron load

description: Increased amount of iron in myocardial tissue.


Mesangial immunotactoid deposits

description: Extracellular mesangial aggregates composed of non-branching fibrils, focally parralel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination.


Nodular mesangiosclerosis

description: Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei.


Abnormal urine protein level

description: Any deviation of the concentration of one or more proteins in the urine.


factor XIII, A subunit, deficiency of

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


primary tethered cord syndrome

description: Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated.


Gastric perforation

description: A full-thickness injury of the wall of the stomach.


name: Congenital malformation of the left heart

description: Defect or defects of the morphogenesis of the left heart identifiable at birth.


multifocal atrial tachycardia

description: Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic.


name: Aplasia of the proximal phalanges of the toes


renal artery atheroma

description: A atherosclerosis that involves the renal artery.


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


Microdontia

description: Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.


Ejection click

description: A high-pitched sound that occurs at the moment of maximal opening of the aortic or pulmonary valves. They are heard just after the first heart sound. The sounds occur in the presence of a dilated aorta or pulmonary artery or in the presence of a bicuspid or flexible stenotic aortic or pulmonary valve. Ejection clicks may also be called ejection sounds.


Hypoplastic spleen

description: Underdevelopment of the spleen.


name: Bullet-shaped distal phalanx of the 2nd toe

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


name: Focal cognitive seizure with expressive dysphasia/aphasia

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


Rectal 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 rectum.


heart lipoma

description: A rare benign adipose tissue neoplasm of the heart usually originating in the epicardial or pericardial fatty tissue.


Hypoplasia of the vestibular nerve

description: Underdevelopment of the vestibular nerve.


Bronchocentric granulomatosis

description: Granulomatous inflammation that surrounds the bronchi and bronchioles, replacing bronchial walls and mucosa. In bronchocentric granulomatosis, the lumen of the airway contains necrotic debris, and palisaded histiocytes surround the lumen.


Decreased CSF neopterin level

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


name: Focal impaired awareness motor seizure with dysarthria/anarthria

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


name: Anterior predominant subcortical band heterotopia

description: Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible in the frontal and temporal lobes.


Testicular adrenal rest tumor

description: Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm.


Increased CSF uracil concentration

description: An increased level of uracil in the cerebrospinal fluid.


name: Intimal thickening in the coronary arteries


Atonic seizure

description: Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.


Decreased facial expression reciprocity

description: Decreased mirroring or reflection of facial expressions in another person during social interactions, compared to the person's normal behavior.


pituitary stalk interruption syndrome

description: Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.


name: Abnormality of the urinary system physiology


Ocular pruritus

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 in the region of the eye.


Unilateral renal atrophy

description: A unilateral form of atrophy of the kidney.


ovarian teratoma

description: A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor.


Increased level of xylitol in urine

description: An increase in the level of xylitol in the urine.


name: Elevated circulating long-chain acylcarnitine concentration

description: Concentration of long-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Long-chain acylcarnitines have between thirteen and twenty carbon atoms in the acyl-chain (C13-C20),


name: Reduced number of intrahepatic bile ducts

description: The presence of reduced numbers of intrahepatic bile duct than normal.


prune belly syndrome

description: Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes.


Spermatocele

description: A cystic structure arising from the epididymis, rete testis or efferent ductuli. These structures are filled with spermatozoa containing fluid that may be milky. These cysts are usually outside the tunica vaginalis and, as with hydrocele, transluminate easily.


Reduced imaginative play skills

description: Reduced or lack of pretending in play (does not assign abstract properties to objects, use invisible objects, or use objects in nonliteral ways other than their intended purpose in play).


Cigarette-paper scars

description: Thin (atrophic) and wide scars.


Patchy sclerosis of 4th toe phalanx

description: Patchy (irregular) increase in bone density of one or more of the phalanges of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.


name: Nodular subcortical heterotopia in peritrigonal regions

description: Solid nodular heterotopia situated in the region of the peritrigonal optic pathway posterior to the deep gray nuclei.


Absent pigmentation of the abdomen

description: Lack of skin pigmentation (coloring) of the abdomen.


myelocystocele

description: Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst.


Preductal coarctation of the aorta

description: Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch.


name: Focal sensory seizure with auditory features

description: A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation.


name: Elevated CSF myelin basic protein concentration

description: The concentration of myelin basic protein in the cerebrospinal fluid (CSF) is above the upper limit of normal.


intracranial hypertension

description: A finding characterized by increased cerebrospinal fluid pressure within the skull.


cerebral degeneration

description: A neurodegenerative disease that involves the telencephalon.


Dilated left subclavian artery

description: Abnormally increased caliber of the left subclavian artery.


Abnormal dental root morphology

description: An abnormality of the dental root.


Impaired neck-righting reflex

description: Abnormal neck-righting response, which is said to be a physiological response when a child is placed flat on his or her back and the head is turned 90 degrees to the right or the left. With a normal neck-righting response, there follows a reflected torsion of the vertebral column in the same direction as the induced rotation of the neck. That is, the whole body follows the direction in which the head was turned. The response is present from birth to the age of five years.


neurohypophyseal diabetes insipidus

description: Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.


description: A granuloma located in the lung that is not associated with necrotic changes.


Advanced eruption of teeth

description: Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age.


Dermatan sulfate excretion in urine

description: An increased concentration of dermatan sulfate in the urine.


brachial plexus neuropathy

description: A brachial plexus disorder characterized by regional paresthesia, pain and muscle weakness, and limited movement in the arm or hand.


hyperostosis

description: Excessive thickening of bone.


name: Disorganization of the anterior cerebellar vermis


name: Compound muscle action potential amplitude facilitation

description: Compound muscle action potential amplitude (CMAP) facilitation denotes an increase in tendon reflexes, strength, or CMAP amplitude after 10 seconds of maximal voluntary contraction.


Thistle tube shaped pulp

description: A thistle tube shape of the pulp chamber, meaning an enlarged coronal pulp chamber with narrow pulp canals giving a radiographic appearance of the shape of a thistle tube or a flame. It may occur isolated or associated with other dental anomalies and rare diseases such as dentinogenesis imperfecta, which should be assessed and coded separately. The diagnosis thistle tube shape pulp requires clinical and radiographic examinations.


cystic disease of lung

description: The presence of multiple lung cysts.


Increased CSF ribitol concentration

description: The concentration of ribitol in the cerebrospinal fluid is above the upper limit of normal.


External carotid artery calcification

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


urocanic aciduria

description: Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.


Abnormal keratinocyte morphology

description: Any structural anomaly of the keratinocyte. The keratinocyte is the major cell type of the epidermis and is responsible for generating the protective barrier.


Purulent rhinitis

description: Chronic rhinitis accompanied by pus formation.


Benign genitourinary tract neoplasm

description: A non-malignant neoplasm of the genitourinary system.


Abnormal sexual behavior

description: An explicit or perceived action, demonstration, conduct, or language (verbal and written) of a sexual nature that goes against generally accepted norms, rules, and procedures. It is considered unacceptable within the context in which it occurs, or it may be both culturally acceptable and atypical/uncommon.


choroid plexus cyst

description: Solitary or multiple cysts within the fetal choroid plexus that frequently spontaneously resolve antenatally and do not usually have postnatal sequelae.


Elevated urine D-lactate level

description: The amount of D-lactate in the urine, normalized for urine concentration, is above the upper limit of normal. L-lactate is a familiar molecule to the human body and is also produced in large amounts in human tissues, depending on metabolic conditions. In contrast, D-lactate is produced only in minute quantities in human tissues, and is therefore not detectable in the bloodstream under normal physiological conditions.


Focal orofacial automatism seizure

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


Frontal hirsutism

description: Excessive amount of hair growth on forehead.


Duodenal atrophy

description: Wasting or decrease in size of all or part of the duodenum.


name: Perimembranous ventricular septal defect

description: A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs.


Rectal abscess

description: A collection of pus in the area of the rectum.


classic Hodgkin lymphoma

description: Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells.


name: Supraventricular tachycardia with a manifest accessory pathway on the septum


Recurrent cutaneous fungal infections

description: Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections.


molluscum contagiosum

description: A common, benign, usually self-limited viral infection of the skin and occasionally the conjunctivae by a poxvirus (molluscum contagiosum virus). (Dorland, 27th ed)


Atrichia

description: The most dramatic and severe form of hair loss characterized by an absence of hair follicles.


Bleeding with minor or no trauma

description: Significant bleeding or hemorrhage without significant precipitating factor.


Abnormal cranial ganglion morphology

description: An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system of the cranium.


Hemiplegia/hemiparesis

description: Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.


name: Focal cognitive seizure with hallucination

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


Abnormal spleen morphology

description: Any anomaly of the structure of the spleen.


name: Elevated CSF dihydrobiopterin concentration

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


Abnormality of the urachus

description: Abnormality of the urachus.


EEG with 4-5/second background activity

description: EEG background activity at 4-5/second.


Fatigable weakness of neck muscles

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


name: Focal aware cognitive seizure with neglect

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


Enamel hypomineralization

description: A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect.


name: Streaks of hyperkeratosis along each finger onto the palm


Perifollicular fibrosis

description: Presence of excess fibrous connective tissue surrounding hair follicules.


CNS hypermyelination

description: Increased amount of myelin in the central nervous system.


Increased circulating palmitate level

description: An elevation beyond the normal concentration of palmitate (palmitic acid) in the blood circulation.


Asherman syndrome

description: Adhesions or scar tissue that form inside the cavity of the uterus.


Chronic tubulointerstitial nephritis

description: Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.


Increased urinary orosomucoid

description: An increased concentration in the urine of alpha-1-acid glycoprotein (AGP), also known as orosomucoid (ORM). AGP is a 41-43-kDa glycoprotein with a pI of 2.8-3.8. AGP is an acute-phase protein that has many activities including, but not limited to, acting as an acute-phase reactant and disease marker, modulating immunity, binding and carrying drugs, maintaining the barrier function of capillary, and mediating the sphingolipid metabolism.


Fetal pericardial effusion

description: An abnormal accumulation of fluid in which the heart is partially or completely surrounded by fluid that is seen in all views and the thickness of the fluid as observed by prenatal ultrasound is above age-dependent norms.


Acute encephalopathy

description: A life-threatening disorder characterized by delirium, seizures, and neuromuscular changes.


Aortic annulus calcification

description: Pathological deposition of calcium salts in the aortic annulus, a fibrous ring-like structure found at the insertion point of the basal attachments of the aortic valve leaflets within the left ventricular outflow tract.


Palmar warts

description: Multiple verrucous lesions on the skin of the palm. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by human papillomavirus (HPV).


Corpus cavernosum hypoplasia

description: A developmental anomaly characterized by undergrowth of the corpus cavernosum.


ganglioneuroma

description: A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray.


Fractured hindlimb bone

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


Abnormal medulla oblongata morphology

description: An abnormality of the medulla oblongata, the lower half of the brainstem.


aortic valve stenosis

description: Aortic valve stenosis (AVS) is a condition characterized by narrowing of the heart's aortic valve opening. This narrowing prevents the valve from opening fully, which obstructs blood flow from the heart into the aorta, and onward to the rest of the body. AVS can range from mild to severe. Signs and symptoms typically develop when the narrowing of the opening is severe and may include chest pain (angina) or tightness; shortness of breath or fatigue (especially during exertion); feeling faint or fainting; heart palpitations; and heart murmur. Individuals with less severe congenital AVS (present at birth) may not develop symptoms until adulthood. Individuals with severe cases may faint without warning. AVS can have several causes including abnormal development before birth (such as having 1 or 2 valve leaflets instead of 3); calcium build-up on the valve in adulthood; and rheumatic fever.


Hypoplastic trochlear nerve

description: Underdevelopment of the trochlear nerve, which is the fourth cranial nerve and one of the ocular motor nerves that controls eye movement.


name: Fusiform descending thoracic aortic aneurysm

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


Dermal translucency

description: An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility.


name: Precocious puberty with Sertoli cell tumor


Focal perseverative automatism seizure

description: A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset.


Short N3 sleep

description: Disruptions in the third stage of NREM sleep.


Accessory scrotum

description: Additional scrotum, or part of a scrotum in an abnormal location.


Elevated urinary norepinephrine level

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


name: Focal aware sensory seizure with gustatory features

description: A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes.


Breech presentation

description: A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first.


Epidermal necrosis

description: Death of keratinocytes in the epidermis layer of the skin, which generally manifests as extensive exfoliation (separation of the epidermis from the underlying dermis).


Cardiomyocyte inclusion bodies

description: Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes.


name: Aplasia of the middle phalanx of the 2nd toe


Abnormal magnesium concentration

description: An abnormality of magnesium ion homeostasis.


Esophageal stricture

description: A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen.


Abnormal endocrine morphology

description: Any anomaly of the structure of an organ ofthe endocrine system.


Abnormal cardiac ventricular function

description: An abnormality of the cardiac ventricular function.


Spinal myoclonus

description: Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia.


name: Reduced epidermal collagen VII protein expression


Levotransposition of the great arteries

description: A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the left of the pulmonary artery.


Complete duplication of hallux phalanx

description: Complete duplication of one or more phalanx of big toe.


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


name: Congenital symmetrical palmoplantar keratosis


name: Abnormal upper-limb motor evoked potentials

description: An anomaly identified by motor evoked potentials (MEPs) in the arm.


dentinogenesis imperfecta

description: Dentinogenesis imperfecta (DGI) is a hereditary dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development.


complement deficiency

description: A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited.


fetal growth restriction

description: A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age.


familial multiple nevi flammei

description: A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color.


name: Subendothelial glomerular basement membrane electron dense deposits

description: Electron dense deposits in the glomerular basement membrane (GBM) subendothelial space associated with a prominent GBM reflecting an increase in thickness. This feature can be associated with GBM remodeling along the endothelial aspect.


albinism

description: A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin.


name: Left superior vena cava draining directly to the left atrium

description: A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt.


Pink urine

description: An abnormal pink color of urine.


name: Elevated urinary succinylaminoimidazole carboxamide riboside level

description: Presence of succinylaminoimidazole carboxamide riboside (SAICAr). SAICAr is a toxic intermediate metabolite of purine synthesis.


Limited repertoire of facial expression

description: An abnormally limited range of facial expressions demonstrated by a lack of nuance of facial expression to match specific social situations or an inability to demonstrate a normal range of emotions with one's face.


Focal sexual automatism seizure

description: A type of focal automatism seizure characterized by involuntary sexual behavior at onset.


Mild receptive language delay

description: A mild delay in the acquisition of the ability to understand the speech of others.


PR segment depression

description: A reduction in voltage of the PR segment below baseline.


Striatal T2 hyperintensity

description: Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging.


Bladder polyp

description: An abnormal growth that projects from the mucous membrane of the urinary bladder.


fibroma

description: A non-metastasizing neoplasm arising from the fibrous tissue. It is characterized by the presence of spindle-shaped fibroblasts.


Induced vaginal delivery

description: Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own.


Abnormality of the subungual region

description: A lesion located beneath a fingernail or toenail.


name: Proximal/middle symphalangism of 5th toe

description: Bony fusion of the middle and proximal phalanges of the 5th toe.


name: Focal impaired awareness sensory seizure with visual features

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


Microcephaly

description: Head circumference below 2 standard deviations below the mean for age and gender.


Aortic medial fibrosis

description: An increase in collagen fibers creating areas of substitutive fibrosis or a widening of intralamellar spaces in the media of the aorta. This can be seen in conjunction with a loss to varying degrees of parallel arrangement of the elastic lamellae (or lamellar units).


Maculopapular exanthema

description: A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear.


name: Decreased CSF N-acetylaspartic acid concentration

description: Concentration of N-acetylaspartic acid in the cerebrospinal fluid below the lower limit of normal.


Abnormal renal arteriole morphology

description: Any structural anomaly of the glomerular arterioles. The interlobar arteries of the kidney branch into arcuate arteries, cortical radiate arteries, and then into afferent arterioles. After passing through the renal corpuscle, the capillaries form the efferent arteriole. The afferent and efferent arterioles are difficult to distinguish histologically and are thus both included in this term and its descendents.


Presacral teratoma

description: A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV).


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


Senile plaques

description: Senile plaques are extracellular deposits of amyloid in the gray matter of the brain.


Hand tremor

description: An unintentional, oscillating to-and-fro muscle movement affecting the hand.


Erythematous macule

description: A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation.


Focal aware automatism seizure

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


name: Spinocerebellar tract disease in lower limbs


Elevated urine L-alloisoleucine level

description: Abnormally increased level of L-alloisoleucine in the urine.


name: Irregular epiphysis of the distal phalanx of the hallux


name: Abnormality of the distal phalanx of the hallux


spastic hemiplegia

description: A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body.


Decreased libido

description: Decreased sexual desire.


Sensory hypersensitivity

description: A decreased tolerance to sensory stimuli that triggers emotional and/or physical distress.


Osteoporotic metatarsal

description: Decrease in mass and density of the metatarsal bones.


name: Elevated circulating 3-hydroxyhexadecanoylcarnitine concentration

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


pterygium

description: A wedge-shaped fibrovascular lesion arising from the bulbar conjunctiva and extending to the cornea. It is caused by chronic exposure to solar ultraviolet radiation, heat, and dust. It may cause severe vision loss. Studies have linked pterygium to neoplastic proliferation and suggest that it may be a stem cell disorder.


name: Renal interstitial immunoglobulin deposits

description: Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining).


Prolonged QTc interval

description: A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.


Congenital ichthyosiform erythroderma

description: An ichthyosiform abnormality of the skin with congenital onset.


Type IV atherosclerotic lesion

description: In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion.


Alpha-aminobutyric aciduria

description: Increased amount of alpha-aminobutyric acid in the urine.


Thyroid lymphangiectasia

description: The presence of lymphangiectasis of the thyroid gland.


Hypoplastic nasopharyngeal adenoids

description: Underdevelopment of the nasopharyngeal adenoids.


name: Symphalangism affecting the proximal phalanx of the 3rd toe


name: peripheral primitive neuroectodermal tumor

description: A small round cell tumor with neural differentiation arising from the soft tissues or bone.


name: Reduced circulating acylcarnitine concentration

description: An abnormally reduced concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.


Decreased urine urobilinogen

description: An abnormally reduced concentration of urobilinogen in the urine.


name: Increased ratio of deoxypyridinoline to pyridinoline cross-links in urine

description: The relative concentration of deoxypyridinoline (Dpyr) to that of pyridinoline (Pyr) cross-links in urine is above the upper limit of normal.


Preauricular hair displacement

description: An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones.


Ecchymosis

description: A purpuric lesion that is larger than 1 cm in diameter.


Gastric intraepithelial lymphocytosis

description: The count of lymphocytes located in the epithelial layer of the gastric mucosa is above the upper limit of normal.


name: juvenile type testicular granulosa cell tumor

description: A rare sex cord-stromal tumor that arises from the testis. It is the most frequent congenital testicular neoplasm and is usually diagnosed during the perinatal period. It usually presents as an asymptomatic scrotal or abdominal mass. Morphologically it is characterized by the presence of cysts that are lined by cells resembling granulosa and theca cells.


Unilateral vestibular schwannoma

description: A unilateral vestibular schwannoma (acoustic neurinoma).


Splenic xanthomatosis

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


Reduced sharing of interests

description: An absence or abnormally low frequency of engaging with others to share personal interests or topics. Interest sharing includes offers of information about oneself as a form of social interaction.


name: Abnormal urine guanidinoacetic acid level

description: The concentration of guanidinoacetic acid in the urine, normalized for urine concentration, is outside normal limits.


Lip pit

description: A depression located on a lip.


Micrographia

description: Abnormally small-sized handwriting is formally defined as an impairment of fine motor skills, which mainly manifests as a progressive or stable reduction in amplitude during a writing task.


2-3 toe syndactyly

description: Syndactyly with fusion of toes two and three.


Chiari malformation type II

description: Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.


Elevated right atrial pressure

description: An abnormal increase in magnitude of the pressure in the right atrium.


tongue neoplasm

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


Heterotopic dermal ossification

description: Formation of abnormal, extraskeletal bony tissue in the dermis (i.e., the layer of skin that lies beneath the epidermis and above the subcutaneous layer).


Pili canaliculi

description: A characteristic triangular, kidney- or heat-shaped diameter of hair shafts with typical longitudinal canalicular deformation as observable by scanning electron microscopy.


Cutaneous sclerotic plaque

description: A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter that is characterized by hardening (sclerosis) of the affected skin area (related to collagen thickening).


Red-brown urine

description: An abnormal red-brown color of the urine.


Monomorphic vesicular eruption

description: A type of vesicular eruption in which the vesicles are at same stages.


urticaria, aquagenic

description: Aquagenic urticaria is a rare condition in which urticaria (hives) develop rapidly after the skin comes in contact with water, regardless of its temperature. It most commonly affects women and symptoms often start around the onset of puberty. Some patients report itching too. It is a form of physical urticaria . The exact underlying cause of aquagenic urticaria is currently unknown. Due to the rarity of the condition, there is very limited data regarding the effectiveness of individual treatments; however, various medications and therapies have been used with variable success.


Hepatic agenesis

description: Absence of the liver owing to a failure of the liver to develop.


facial nerve disorder

description: A disease involving the facial nerve.


Elevated urine octanoic acid level

description: Amount of octanoic acid in the urine above the upper limit of normal.


Abnormal tarsal ossification

description: An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.


Hypoplasia of the olfactory bulb

description: Underdevelopment of the olfactory bulb.


Phobia

description: Extreme, irrational, and persistent fears of certain objects, situations, activities, or persons can impede functioning in day-to-day life.


Functional abnormality of the inner ear

description: An abnormality of the function of the inner ear.


name: Linear IgG deposits along the epidermal basement membrane zone

description: Presence of IgG antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.


name: Osteolytic defects of the middle phalanx of the 5th toe


tendinitis

description: Inflammation of a tendon, usually resulting from an overuse injury. It is characterized by swelling of the tendon, tenderness around the inflamed tendon, and pain while moving the affected area of the body.


Hyperreflexia

description: Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.


Esophageal duplication

description: A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication.


Fanconi renotubular syndrome

description: A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.


name: Absent right sided atrioventricular connection

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


Bence Jones Proteinuria

description: The presence of free monoclonal immunoglobulin light chains in the urine.


Atrial septal hypertrophy

description: An abnormal increase in the thickness of the atrial septum.


Positive lupus band test

description: Deposits of immunoglobulins and complement components along the dermoepidermal junction.


name: Substantia nigra dopaminergic neuron loss

description: Degeneration and loss of neruons in the substantia nigra of the brain.


Inflexible adherence to routines

description: A need to strictly adhere to repetitive routines or patterns of behavior which are created by the environment. One becomes upset or distressed when their routines are disrupted or altered.


Fixated interests

description: Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests).


name: Premature separation of centromeric heterochromatin


Basilar artery calcification

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


Abnormal ovarian physiology

description: Any anomaly of ovarian function.


neuroblastic tumor

description: A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells.


Acrocyanosis

description: Bluish discoloration of the skin of the hands or feet.


myoclonic-astatic epilepsy

description: Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.


Bent sperm flagella

description: The proportion of sperm cells whose flagella is sharply curved or has a sharp angle is above normal limits.


name: Hypothalamic gonadotropin-releasing hormone deficiency


Mild albuminuria

description: The presence of mildly increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio (ACR) less than 30 mg/gm (less than 3.4 mg/mmol).


name: Interlobular vein intima/media multilamellation

description: Myointimal hyperplasia of the inner and middle layer of the interlobular veins of the kidney, arranged in multiple concentric layers.


Severe sensorineural hearing impairment

description: A severe form of sensorineural hearing impairment.


Peripheral arterial calcification

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


Pulmonic valve myxoma

description: A benign tumor of connective tissue containing mucous or gelatinous material (myxoma) localized in the pumonic valve.


name: Abnormal morphology of the proximal phalanx of the 2nd toe


Palpable purpura

description: A type of purpura in which the lesions are raised (and can therefore be appreciated upon palpation).


aplasia cutis congenita

description: Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies.


Unicuspid aortic valve

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


Vocal cord paresis

description: Decreased strength of the vocal folds.


Bilateral intracerebral calcifications

description: Deposition of calcium salts on both sides of the cerebrum.


Y-shaped metatarsals

description: Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly.


name: Aplasia cutis congenita of midline scalp vertex


vaginal neoplasm

description: A benign or malignant neoplasm affecting the vagina. Representative examples of benign neoplasms include squamous papilloma and melanocytic nevus. Representative examples of malignant neoplasms include carcinoma, melanoma, and sarcoma.


High posterior hairline

description: Hair on the neck extends less inferiorly than usual.


name: Bilateral single transverse palmar creases

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


Episodic fatigue

description: Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation.


atresia of urethra

description: Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development.


Subarterial ventricular septal defect

description: A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum.


paranasal sinus neoplasm

description: A benign or malignant neoplasm that affects the paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.


Animal dander allergy

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


name: Elevated circulating 3-hydroxybutyric acid concentration

description: Elevation of the 3-hydroxybutyric acid concentration in the blood above the normal range.


chylous ascites

description: Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain.


name: Focal aware cognitive seizure with illusion

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


name: Focal impaired awareness cognitive seizure

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


Urinary mulberry cells

description: Distal tubular epithelial cells in which globotriaosylceramide (Gb3) has accumulated. they are the characteristic feature of Fabry disease. Urinary mulberry bodies are a component of mulberry cells that can be distinguished easily from fat particles by their inner lamellar appearance.


disorder of sexual differentiation

description: A congenital disorder characterized by abnormalities in the development of the sexual characteristics.


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


Peripheral hypermyelination

description: Increased amount of peripheral myelination.


Sparse anterior scalp hair

description: Decreased number of head hairs per unit area on the anterior region of the scalp.


aortic valve insufficiency

description: Dysfunction of the aortic valve characterized by incomplete valve closure.


Herpetiform vesicles

description: Multiple vesicles distributed in multiple distinct groups consisting of multiple adjacent vesicles.


Cognitive fatigue

description: A failure to sustain attention that requires self-motivation to optimize performance.


name: Complete duplication of the middle phalanx of the 2nd toe

description: Complete duplication of middle phalanx of second toe.


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


Precocious puberty in males

description: The onset of puberty before the age of 9 years in boys.


Prolonged central motor conduction time

description: Increased duration of the central motor conduction time (CMCT). The CMCT estimates the conduction time of corticospinal fibers between motor cortex and spinal (or bulbar) motoneurons. It includes the times for excitation of cortical cells, conduction via the corticobulbar-corticospinal tract and excitation of the motoneuron sufficient to reach its firing threshold. CMCT is calculated by subtracting the peripheral conduction time from the MEP latency recorded after cortical stimulation.


name: diffuse nonepidermolytic palmoplantar keratoderma

description: A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis.


Curved 4th toe phalanx

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


EEG with temporal focal spike waves

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


name: Focal sensory seizure with cephalic sensation

description: A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation.


Recurrent cystitis

description: Repeated infections of the urinary bladder.


Hyperplasia of the Leydig cells

description: Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone.


Parasite allergy

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


metachromasia of fibroblasts

description: Increased cytoplasmic staining of fibroblasts with toluidine blue.


Polygonal renal calices

description: An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance).


liposarcoma

description: A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors.


Reduced progressive sperm motility

description: A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increased proportion of sperm that move in tight circles or in some other non-linear fashion.


Uterine prolapse

description: The presence of prolapse of the uterus.


Onychogryposis

description: Nail that appears thick when viewed on end.


name: Hyperdynamic left ventricular ejection fraction

description: An abnoramlly increased ejection fraction of the left ventricle, usually defined as a left ventricular ejection fraction greater than 70 percent.


Fractured metacarpus skeleton

description: A partial or complete breakage of the metacarpus skeleton.


Abnormal HDL2a concentration

description: Any deviation from 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.


name: Triangular shaped distal phalanx of the 2nd toe


Long term memory impairment

description: A deficit in the ability to retrieve information from long-term memory, which can be defined as a seemingly unlimited capacity to store memories can last years and relate to the performance of actions or skills (i.e., procedural memories, knowing how) and memories of facts, rules, concepts, and events (i.e., declarative memories, knowing that).


Neutrophilic infiltration of the skin

description: A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin).


name: telangiectasia macularis eruptiva perstans


Foot osteomyelitis

description: An infection of bone of the foot.


name: Calcification of the small brain vessels

description: Deposition of calcium salts within small blood vessels of the brain.


Enamel pearls

description: Small nodules of enamel on the root of a tooth.


Stroke-like episode

description: No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours.


Left ventricular thrombus

description: A blood clot (thrombus) localized in the left ventricle. Left ventricular thrombus is a serious complication of acute myocardial infarction and also of non-ischemic cardiomyopathies.


Abnormal glomerular filtration rate

description: An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.


inner ear neoplasm

description: A rare neoplasm that arises from the inner ear. Representative examples include lipoma and acoustic schwannoma.


Increased inflammatory response

description: A abnormal increase in the inflammatory response to injury or infection.


Abnormal consumption behavior

description: Recurrent abnormal consumption of food, liquids, or objects that could have negative consequences for the individual.


Coronary ostial atresia

description: Absence of the normal opening of a coronary ostium. There are normally two coronary ostia, which are site of origin of the main left or right main coronary artery and are located in the ascending aorta just above the aortic valve.


Anterior pituitary agenesis

description: Absence of the anterior pituitary gland resulting from a developmental defect.


name: Paresis of extensor muscles of the big toe


Decreased urinary 3-methylhistidine

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


thyroid tumor

description: A benign or malignant neoplasm affecting the thyroid gland.


Splayed toes

description: Divergence of digits along the anteroposterior axis (in the plane of the sole).


isolated congenital adermatoglyphia

description: Isolated congenital adermatoglyphia is a rare, genetic develomental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.


name: Osteolytic defects of the phalanges of the 3rd toe


name: Complete right sided absence of pericardium

description: No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy.


name: Abnormal circulating protein concentration

description: An abnormal level of a circulating protein in the blood.


Arteria lusoria

description: Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria.


name: Delayed somatosensory central conduction time

description: An abnormal increase (delay) in the somatosensory central conduction time (CCT), which can be measured from the peak of N13 to the peak of N20 (peak CCT) or from the onset of N11 to the onset of N20 (onset CCT).


Olivopontocerebellar hypoplasia

description: Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus.


Galactosuria

description: Elevated concentration of galactose in the urine.


bacterial arthritis

description: The inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint.


Myoclonic absence seizure

description: Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterized by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017.


Experiential epileptic aura

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


Coronary artery fistula

description: A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel.


Abnormal urinary mineral level

description: An abnormal concentration or amount of a mineral in the urine. Medically relevant minerals include calcium, phosphorus, potassium, sodium, chloride, magnesium, iron, zinc, iodine, chromium, copper, fluoride, molybdenum, manganese, and selenium.


Segmental hypoplasia of liver

description: Anatomically the liver is divided into right and left lobes based on the attachment of its peritoneal ligaments. This term refers to a developmental anomaly characterzied by the underdevelopment of one of the lobes of the liver. This is a rare and usually asymptomatic anomaly that can be detected incidentally on cross sectional imaging with computed tomography or magnetic resonance imaging.


Hydroureter

description: The distention of the ureter with urine.


Hepatic focal nodular hyperplasia

description: Hepatic focal nodular hyperplasia (FNH) is a benign hepatic tumor. FNH develops within hepatic parenchymal tissue that is otherwise histologically normal. Macroscopically, the tumor is characterized by the presence of depressed, grayish-white scar, which is generally (but not always) located at the center of the lesion, with fibrous septa radiating outward, toward the periphery of the tumor. This stellate scar is found in only 50% of all FNH nodules, but its presence is regarded as pathognomonic. The lesion itself is usually lighter in color than the tissue that surrounds it, and it sometimes has a yellowish hue. FNH nodules are generally not capsulated; their margins are well defined, and they are sometimes lobulated.


name: Cortical radial artery intima/media arteriosclerosis

description: Thickening of the intima of the cortical radial artery (also known as the interlobular artery) of the kidney characterized by fibrosis and/or duplication of the elastic lamina.


Palmar hyperkeratosis

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


name: Polymorphic and polytopic ventricular extrasystoles


Fatigable weakness of chewing muscles

description: A type of weakness of the muscles involved in chewing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.


name: Ivory epiphysis of the middle phalanx of the 2nd toe


anaplastic large cell lymphoma

description: Anaplastic large cell lymphoma (ALCL) is a rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL.


Gastric volvulus

description: A gastric volvulus occurs when the stomach rotates on itself at least 180 degrees along its transverse or longitudinal axis.


Migrating focal seizure

description: A migrating focal seizure is a seizure that involves different body parts, usually without overlap, in a consecutive manner so that the offset of a seizure in one part coincides with its onset in another, even shifting multiple times between the sides of the body. They can be associated with autonomic manifestations.


breast fibroadenoma

description: A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported.


Elevated urinary inosine level

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


Short foot

description: A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).


medulloblastoma

description: A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity.


name: congenital pulmonary airway malformation

description: An abnormality in lung development that is characterized by a multicystic mass resulting from an adenomatous overgrowth of the terminal bronchioles with a consequent reduction of pulmonary alveoli. This anomaly is classified into three types by the cyst size.


name: Translamellar mucoid extracellular matrix accumulation

description: A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix alters the arrangement of the lamellar units to varying degrees.


name: Left ventricular noncompaction cardiomyopathy

description: Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.


name: Increased urinary disaccharide excretion

description: Increased concentration of disaccharide in the urine.


teratoma

description: A non-seminomatous germ cell tumor characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). It occurs in the testis, ovary, and extragonadal sites including central nervous system, mediastinum, lung, and stomach. According to the level of differentiation of the tissues which comprise the tumor, teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal-type tissues. Testicular teratomas in children follow a benign clinical course. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor.


name: Elevated urinary 2-oxovaleric acid level

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


name: thrombophilia due to activated protein C resistance

description: A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance.


fibrous dysplasia

description: A genetic, non-inheritable disorder caused by osteoblastic differentiation defects that result in the replacement of bone marrow and trabecular bone by fibrous stroma and immature bone. It usually affects a single bone and less frequently multiple bones. Skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures.


Lack of insight

description: Lack of insight (Anosognosia) is a neurological condition in which an individual is unaware of his or her own neurological deficit or psychiatric condition. Anosognosia can be associated with mental illness, dementia, and structural brain lesions and can affect an indviduals's conscious awareness of deficits involving judgment, emotions, memory, executive function, language skills, and motor ability.


Patchy sclerosis of toe phalanx

description: Uneven (irregular) increase in bone density of one or more of the phalanges of the foot.


Bullet-shaped 2nd toe phalanx

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


Reflex asystolic syncope

description: A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure.


Tendon xanthomatosis

description: The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows).


name: Yellow subcutaneous tissue covered by thin, scaly skin


Spastic gait

description: Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.


name: Cerebellar ataxia associated with quadrupedal gait

description: The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight).


name: Diminishment of comfort with casual physical contact

description: A reduction in the tendency of a person to accept casual physical contact with others as compared to that person's previous norm.


Lymphangiosarcoma

description: A malignant neoplasm arising from the endothelial cells of the lymphatic vessels.


Abnormal midbrain morphology

description: An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct.


name: Abnormal level of platelet-activating factor


Absent toenail

description: Congenital absence of the toenail.


Amyelia

description: Congenital absence of the spinal cord.


Abnormality of premolar

description: An abnormality of premolar tooth.


Fluctuating hepatomegaly

description: Intermittently increased size of the liver.


name: Abnormality of the hypothalamus-pituitary axis

description: Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.


Toenail dysplasia

description: An abnormality of the development of the toenails.


Oral bleeding

description: Bleeding originating from the mouth.


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


cellulitis

description: Inflammation of the dermis and subcutaneous tissues caused by a bacterial infection. Symptoms include erythema, edema, and pain to the affected area.


3-methylglutaconic aciduria

description: A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine.