lobar holoprosencephaly

description: Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally.


Aplastic colon

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

description: Congenital absence of the colon


Abnormal cerebrospinal fluid morphology

description: An abnormality of the cerebrospinal fluid (CSF).


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

description: Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.


description: Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, and in association with other features.


Aortic valve leaflet calcification

description: Deposition of calcium salts in the leaflets (cusps) of the aortic valve.


Failure to thrive

description: Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.


Mid-frequency hearing loss

description: A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz).


Abnormal gesture use

description: Abnormality in the use of gestures defined as hand, shoulder, and head movements that convey a shared meaning within a culture that replace or supplement verbal communication.


Frontal venous angioma

description: A venous angioma of the frontal lobe of the brain.


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


Abnormality of the pineal gland

description: An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin.


name: Lack of gonadotropin-releasing hormone pulsatility

description: Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion.


name: Postlingual sensorineural hearing impairment

description: A form of sensorineural hearing impairment with onset after the acquisition of speech.


Telangiectasia of the oral mucosa

description: Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa.


cleft hard palate

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


Hyperglutaminemia

description: An increased concentration of glutamine in the blood.


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


Abnormal biliary tract morphology

description: A structural abnormality of the biliary tree.


name: Multilamellation of cortical peritubular capillary basement membranes

description: Duplicated basement membranes of the peritubular capillaries located in the cortex of the kidney and arranged in multiple concentric layers.


Autoimmune antibody positivity

description: The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.


name: Dilatation of Inferior mesenteric artery

description: Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery .


name: Symphalangism affecting the proximal phalanx of the 5th toe


name: Elevated urinary isovalerylglycine level

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


Open neural tube defect

description: A type of neural tube defect that is not covered by skin.


Abnormal T-wave

description: An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles.


Atrial situs inversus

description: Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side.


name: Focal aware orofacial automatism seizure

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


name: Increased urinary multiantennary sialylated oligosaccharide

description: An abnormal increase in the concentration of multiantennary sialylated oligosaccharides in the urine.


name: Elevated circulating C18 acylcarnitine concentration

description: Concentration of C18 acylcarnitines in the blood circulation above the upper limit of normal. C18 acylcarnitines have a eighteen-carbon acyl chain.


Typical absence status epilepticus

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


Abnormal placental membrane morphology

description: Structural anomaly of the fetal membranes (also known as the amniochorionic or placental membranes), which comprise a vital intrauterine compartment, where they perform mechanical, immune, and endocrine functions to promote growth of the fetus and protection from environmental adversity. Amniochorionic membranes anatomically consist of a single layer of cuboidal amnion epithelial cells, chorionic trophoblasts, and scattered fibroblasts connected by a layer of type IV collagen-rich extracellular matrix.


Gustatory agnosia

description: People cannot identify tastes, even though they can experience them.


Type IV truncus arteriosus

description: Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present.


name: Abnormal circulating valine concentration

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


name: Enlarged epiphysis of the 1st metatarsal


Dependency on parenteral nutrition

description: Inability to ingest sufficient quantities of nutrition by mouth or by tube-feeding with the corresponding requirement for intravenous administration of nutrition.


Elevated brain creatine level by MRS

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


Arcuate vein intimal mucoid edema

description: Accumulation of edematous extracellular matrix in the inner layer (intima) of arcuate veins of the kidney. The material resembles mucus and appears pale blue on hematoxylin and eosin staining.


Pulmonary vasculitis

description: Cellular inflammation, vessel destruction, and tissue necrosis of the blood vessels of the lung.


Epispadias

description: Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias.


name: Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity


Abnormal tarsal bone mineral density

description: This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone.


Hypernatriuria

description: An increased concentration of sodium(1+) in the urine.


congenital laryngeal cyst

description: Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia.


Nut food product allergy

description: Hypersensitivity in form of an adverse immune reaction against nut food products.


Nevus flammeus nuchae

description: Naevus flammeus localized in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns.


Chronic cough

description: A persistent cough, defined as a cough lasting longer than eight weeks in adults or longer than four weeks in children.


Abnormal posturing

description: Involuntary flexion or extension of the arms and legs.


Very preterm birth

description: Birth before 32 completed weeks of gestation (28 up to but not including 32 weeks).


name: Dysfunction of lateral corticospinal tracts


Phenotypic abnormality

description: A phenotypic abnormality.


Increased fecal isocoproporphyrin

description: Abnormally high concentration of isocoproporphyrin in feces.


Absent axillary hair

description: Absence of axillary hair.


Abnormal renal pelvis morphology

description: An abnormality of the renal pelvis.


name: Decreased mitochondrial complex III activity in liver tissue

description: Decreased activity of complex III of the mitochondrion in the liver.


Dislocated radial head

description: A dislocation of the head of the radius from its socket in the elbow joint.


Abnormal odontoid tissue morphology

description: An abnormality of an odontoid tissue.


Feeding difficulties

description: Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.


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

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


Rest limb pain

description: Rest pain is a continuous unrelenting pain due to ischemia of the lower leg, beginning with or being aggravated by elevation and being relieved by sitting with legs in a dependent position or by standing.


Unilocular ovarian cyst

description: An ovarian cyst without septa and a solid component.


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

description: Partial or complete duplication of the distal phalanx of little toe.


Anomalous pulmonary venous return

description: A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood.


name: Abnormal CSF branched chain amino acid concentration

description: Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid.


Chordee

description: Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees.


name: Anti-transcription intermediary factor-1gamma antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transcription intermediary factor-1gamma.


name: Abnormality of circulating beta-2-microglobulin level

description: A deviation from the normal concentration of beta-2-microglobulin in the blood.


Abnormal atrioventricular connection

description: An abnormality of the circulatory connection between atria and ventricles.


Lactescent serum

description: Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level.


name: Partial duplication of the distal phalanx of the 4th finger

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


name: Absence of large von Willebrand factor multimers

description: Absence of large von Willebrand Factor multimers on gel electrophoresis.


Decreased level of D-mannose in urine

description: A decrease in the level of D-mannose in the urine.


Salt craving

description: Hypersalivation, also known as salt craving, refers to an excessive desire to consume salt (sodium chloride) or salty foods.


Proximal fibular overgrowth

description: Overgrowth of the proximal part of the fibula.


name: Abnormal peripheral nervous system physiology

description: Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.


Light-chain paraproteinemia

description: An abnormal immunoglobulin light chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.


name: Generalized convulsive status epilepticus

description: A type of bilateral convulsive seizure of generalized onset that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus.


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


AV nodal tachycardia

description: A type of supraventricular tachycardia that originates in the atrioventricular node.


Impaired clot retraction

description: Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration.


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

description: A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


Anti-CV2/CRMP5 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CV2/CRMP5. Anti-CV2/CRMP5 autoantibody is the most commonly detected anti-neuronal autoantibody. Patients with typical paraneoplastic chorea show fully developed chorea in the course of weeks to months with acute inflammation in the striatum.


name: Absent pigmentation of the ventral chest

description: Lack of skin pigmentation (coloring) of the anterior chest.


Congenital megaureter

description: A developmental disturbance with extreme ureteral dilatation.


name: Abnormal circulating amylase concentration

description: A deviation from the normal concentration of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.


Abnormal seventh cranial physiology

description: Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve.


Pulmonary necrosis

description: Cellular death affecting one or more parts of the lung. Necrosis is caused by diverse external and internal factors which result in the unregulated digestion of cell components.


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

description: Partial or complete duplication of the distal phalanx of second toe.


Elevated terminal:vellus ratio

description: An increased proportion of terminal hairs compared to vellus hairs.


Retrocollis

description: A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.


name: Abnormality of reproductive system physiology

description: An abnormal functionality of the genital system.


Low-grade fever

description: Mild fever that does not exceed 38.5 degrees centigrade.


Anti-GFAP antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glial fibrillary acidic protein (GFAP).


Anti-Ro52/TRIM21 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro52/TRIM21.


name: Abnormal peripheral nervous system ganglion morphology

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


Nodular pattern on pulmonary HRCT

description: A nodular pattern is characterized on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter.


name: Decreased level of tissue plasminogen activator

description: The tPA protein catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis


Hypoplasia of the small intestine

description: Underdevelopment of the small intestine.


Delusion of control

description: A false belief that another person, group of people, or external force controls one's general thoughts, feelings, impulses, or behaviors.


cutaneous leiomyosarcoma

description: An aggressive malignant smooth muscle neoplasm, arising from the skin. It is characterized by a proliferation of neoplastic spindle cells.


Exencephaly

description: A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium.


Diffuse alveolar damage

description: Diffuse alveolar damage (DAD) describes a common histologic injury pattern of the lung. The early stages are characterized by epithelial cell necrosis and sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli. This results in impaired gas exchange. In later stages, type II cells and myofibroblasts proliferate within the interstitium and airspaces. The corresponding clinical entity is acute respiratory distress syndrome (ARDS). DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe viral infections, acute interstial pneumonitis, and crack cocaine inhalation.


Impaired distal vibration sensation

description: A decrease in the ability to perceive vibration in the distal portions of the limbs.


Aortic elastic fiber thinning

description: A thinning out of elastic fibers of the media of the aorta that creates widening of intralamellar spaces, as identified on a stain for elastic fibers.


EEG with spike-wave complexes (<2.5 Hz)

description: The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG).


name: rosette-forming glioneuronal tumor of fourth ventricule

description: A central nervous system neoplasm mostly occurring in the fourth ventricle region. It is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. Cytologic atypia is minimal.


Wide cavum septum pellucidum

description: Width of the cavum septum pellucidum above the upper limit of normal, which is defined as a separation of greater than one cm of the leaves of the cavum septum pellucidum.


Tongue fasciculations

description: Fasciculations or fibrillation affecting the tongue muscle.


Posterolateral diaphragmatic hernia

description: A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity.


Motor deterioration

description: Loss of previously present motor (i.e., movement) abilities.


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


name: Abnormal circulating arginine concentration

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


Decreased serum estradiol

description: A reduction below normal concentration of estradiol in the circulation.


Excessive eye contact

description: Tendency to maintain sustained eye contact for an inappropriately long period of time.


Hyposthenuria

description: An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine.


name: Duplication of the proximal phalanx of the 4th toe

description: Partial or complete duplication of the proximal phalanx of fourth toe.


Focal emotional seizure

description: Seizures presenting with an emotion or the appearance of having an emotion as an early prominent feature, such as fear, spontaneous joy or euphoria, laughing (gelastic), or crying, (dacrystic). These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer.


name: Disseminated infection with live vaccine virus

description: A dissemination viral infection caused by a live attenuated vaccine virus.


Broad 4th toe

description: A broad appearance of the fourth toe.


name: Low-frequency sensorineural hearing impairment

description: A form of sensorineural hearing impairment that affects primarily the lower frequencies.


name: Decreased immunoglobulin level in body fluid

description: An reduction from normal levels of immunoglobulins in body fluids, such as mucous.


Craniofacial osteosclerosis

description: Abnormally increased density of craniofacial bone tissue.


Abnormality of mesenteric lymph nodes

description: A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery.


name: Status epilepticus without prominent motor symptoms

description: There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma.


hymen, imperforate

description: A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina.


Shoulder external rotation contracture

description: A type of shoulder contracture characterized by decreased internal rotation of shoulder, that is, by a chronic reduction in active and passive ability to internally rotate the humerus at the shoulder joint (if the arm is flexed at the elbow, Internal rotation of the shoulder rotates the forearm towards the center of the body).


Hawkinsinuria

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


Lhermitte's sign

description: An electric shock-like sensation that occurs on flexion of the neck. This sensation radiates down the spine, often into the legs, arms, and sometimes to the trunk.


name: Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis

description: A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


name: Abnormal morphology of right ventricular trabeculae

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


Bile duct polyp

description: An elevated growth from the the mucosa of the bile duct.


Focal T2 hypointense thalamic lesion

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


Increased female libido

description: Elevated sexual desire in female


Prominent subcalcaneal fat pad

description: Abnormally increased prominence of the fat pad underneath the heal. This feature can be appreciated in figure 1 of PMID:26769062.


name: Elevated circulating parathyroid hormone level

description: An abnormal increased concentration of parathyroid hormone.


name: Decreased specific pneumococcal antibody level

description: The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci.


name: Abnormal morphology of the abdominal musculature

description: An abnormality of the abdominal musculature.


Hypnagogic hallucination

description: Hypnagogic hallucinations are brief hallucinations that occur as you are falling asleep.


Abnormal renal corpuscle morphology

description: Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule.


Anti-GQ1b IgM antibody positivity

description: The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b.


name: Anti-acetylcholine receptor antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury.


name: Discrete 2 to 5-mm hyper- and hypopigmented macules


Polymorphic vesicular eruption

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


Short uvula

description: Decreased length of the uvula.


Episodic flaccid weakness

description: Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching.


Hippocampal atrophy

description: Partial or complete wasting (loss) of hippocampus tissue that was once present.


Dependency on intravenous nutrition

description: Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status.


Abnormal circulating T4 concentration

description: A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).


name: Triangular epiphysis of the 1st metatarsal


EEG with changes in voltage

description: EEG with abnormal amplitude.


Deja vu aura

description: A subjective feeling that an experience which is occurring for the first time has been experienced before.


Abnormal hand morphology

description: Any structural anomaly of the hand.


Abdominal situs inversus

description: A left-right reversal (or "mirror reflection") of the anatomical location of the viscera of the abdomen.


Labile Hypertension

description: Frequent fluctuations of blood pressure between normal and high levels, changing more dramatically than normal.


Decreased proportion of memory T cells

description: An abnormally reduced proportion of memory T cells compared to the total number of T cells in the blood.


Hyperactive bowel sounds

description: Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines.


Impairment in personality functioning

description: A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning.


Triangular mouth

description: The presence of a triangular form of the mouth.


Elevated urine keto acid level

description: Increased amount of a keta acid in the urine.


cor triatriatum dexter

description: A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue.


Severe generalized osteoporosis

description: Severe degree of osteoporosis.


Aplasia of the olfactory bulb

description: Lack of formation (congenital absence) of the olfactory bulb.


neurofibroma of the heart

description: A rare neurofibroma that affects the heart.


Abnormal pyramidal sign

description: Functional neurological abnormalities related to dysfunction of the pyramidal tract.


name: Arcuate vein intima/media crystal accumulation

description: Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arcuate veins of the kidney.


Abnormal quality of facial expression

description: Spontaneous production of communicative facial expressions that have poor quality or are exaggerated or muted.


Lacticaciduria

description: An increased concentration of lactic acid in the urine.


High pulse pressure

description: Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).


Intermittent painful muscle spasms

description: History of repeated intermittent involuntary muscle contractions that were painful.


Aplasia/Hypoplasia of the tongue

description: Absence or underdevelopment of the tongue.


Hepatic cysts

description: A cystic lesion located in the liver.


Abnormal pulmonary artery physiology

description: An abnormality of the function of the pulmonary artery.


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


Moderate conductive hearing impairment

description: The presence of a moderate form of conductive hearing impairment.


Decreased CSF arginine concentration

description: Abnormally decreased levels of arginine in cerebrospinal fluid.


name: Focal impaired awareness emotional seizure with anger

description: Focal emotional seizure with anger in which awareness is partially or fully impaired at some point during the seizure.


name: Increased circulating farnesol concentration

description: An elevated level of farnesol in the blood circulation.


Greater auricular nerve thickening

description: Increase in thickness of the great auricular nerve, a cutaneous nerve of the head. It originates from the cervical plexus, with branches of spinal nerves C2 and C3. Thickening may lead to the nerve being palpable or even visible in this region.


Coronary cameral fistula

description: An abnormal communication between coronary artery and a cardiac chamber.


Abnormal cardiac index

description: Any deviation from the normal value of the cardiac index, defined as cardiac output divided by body surface area.


Agyria

description: A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm.


Myofiber disarray

description: A nonparallel arrangement of cardiac myocytes.


Gallbladder enlargement

description: Abnormal increased in the thickness of the size of the gallbladder.


facial cleft

description: A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences.


Abnormal proportion of immature B cells

description: A deviation from normal proportion of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).


Abnormal intervertebral disk morphology

description: Any structural abnormality of the intervertebral disk.


name: Neonatal seizure with unilateral automatism

description: Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, occurring at one side of the body.


Ovarian mass

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


name: Elevated circulating short-chain acylcarnitine concentration

description: Concentration of short-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. Short chain acylcarnitines have between two and five carbon atoms in the acyl-chain (C2-C5),


Fusion of the left and right thalami

description: A developmental defect characterized by fusion of the left and right halves of the thalamus.


Fractured facial bone

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


name: Abnormality of the somatic nervous system

description: Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements.


Abnormal ear morphology

description: Any structural anomaly of the ear.


Increased HDL3a concentration

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


Abnormal dura mater morphology

description: An abnormality of the Dura mater.


Periapical tooth abscess

description: A tooth abscess that occurs at the tip of the root (apex) of a tooth.


Superficial thrombophlebitis

description: Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein).


Gerbode ventricular septal defect

description: A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve.


name: Stippling of the epiphyses of the 3rd finger

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger.


name: Abnormal circulating free fatty acid concentration

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


Usual-type tubular atrophy

description: A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis.


Agenesis of the small intestine

description: Failure to develop of the small intestine.


Progressive spasticity

description: Spasticity that increases in degree with time.


Increased circulating free T3

description: An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.


Bilateral cryptorchidism

description: Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.


Decreased CSF glycine concentration

description: Abnormally decreased levels of glycine in cerebrospinal fluid.


Glomerular synechial adhesion

description: An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis.


name: Abnormal CSF serine family amino acid concentration

description: Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid.


name: Abnormal circulating methionine concentration

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


Aplasia/hypoplasia of the uterus

description: Absence or developmental hypoplasia of the uterus.


name: Abnormality of peripheral somatosensory evoked potentials


name: Focal aware cognitive seizure with dyscalculia/acalculia

description: A focal cognitive seizure with dyscalculia and or acalculia characterized by retained awareness throughout the seizure.


Abnormality of lingual tonsil

description: An abnormality of a lingual tonsil.


Focal impaired awareness atonic seizure

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


Rhonchi

description: Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds.


name: Grade III preterm intraventricular hemorrhage

description: Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles.


name: Enteric intraneuronal nuclear inclusion bodies

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

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.


name: Elevated circulating creatinine concentration

description: An increased amount of creatinine in the blood.


Dermal immune complex deposition

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


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: Elevated circulating creatine concentration

description: An elevation above the normal range of creatine in the blood circulation.


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.


name: Elevated circulating alpha-ketoglutarate concentration

description: The concentration of alpha-ketoglutarate in the blood circulation is above the upper limit of normal.


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: Elevated amniotic fluid alpha-fetoprotein

description: An elevation of alpha-feto protein measured in the amniotic fluid.


Infantile muscular hypotonia

description: Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.


Central apnea

description: Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow.


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.


Abdominal wall muscle weakness

description: Decreased strength of the abdominal musculature.


name: Abnormal pulmonary alveolar system morphology

description: A structural abnormality of the pulmonary acinus, alveolar parenchyma, or alveoli.


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.


Echogenic fetal bowel

description: Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone.


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.


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.


Solid pulmonary nodule

description: A type of pulmonary nodule whose density obscures the underlying parenchyma and thus has a "solid" appearance.


Sleep abnormality

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


name: Reduced circulating transferrin concentration

description: An abnormally decreased concentration of transferrin in the blood circulation.


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.


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.


Aplasia/Hypoplasia of the premaxilla

description: Absence or underdevelopment of the premaxilla.


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.


Abnormal T cell subset distribution

description: Any abnormality in the proportion T cells subsets relative to the total number of T cells.


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.


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

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


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.


Positive stool occult blood test

description: The presence of hidden (occult) blood in the stool.


Abnormal CSF glycine concentration

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


name: Abnormal circulating aspartate family amino acid concentration

description: Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation.


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.


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.


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.


Anti-Ma antibody positivity

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


Mesenteric cyst

description: A closed fluid filled sac originating from the mesentary.


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.


name: Anti-U1 ribonucleoprotein antibody positivity

description: The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP.


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.


High palate

description: Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).


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.


Upper extremity joint dislocation

description: Displacement or malalignment of one or more joints in the upper extremity (arm).


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.


Narrow philtrum

description: Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum.


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: Decreased circulating adenosylcobalamin concentration

description: The concentration of adenosylcobalam in the blood circulation is below the lower limit of normal. Adenosylcobalamin is one of the active forms of vitamin B12.


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.


Abnormal long bone morphology

description: An abnormality of size or shape of the long bones.


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.


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.


name: Impaired sensitivity to thyroid stimulating hormone

description: Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH).


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.


name: Abnormal circulating carboxylic acid concentration

description: Any deviation from the normal concentration of a carboxylic acid in the blood circulation.


Abnormality of skin pigmentation

description: An abnormality of the pigmentation of the skin.


Abnormal circulating IgG level

description: An abnormal deviation from normal levels of IgG immunoglobulin in blood.


name: Elevated circulating N,N-dimethylglycine concentration

description: An increased concentration of N,N-dimethylglycine in the circulation.


Interstitial pneumonitis

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


Painful defecation

description: An unpleasant sensation characterized by physical discomfort that occurs when passing stool.


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.


Premature anterior fontanel closure

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


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.


Cleft lower lip

description: A gap in the lower lip.


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.


Fetal scalp mass

description: An abnormal growth (lump) of tissue that projects from the fetal scalp.


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.


Anti-mGluR5 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 5 (mGluR5).


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.


Oral erythroplakia

description: A velvety red but not ulcerated lesion of the oral mucosa. The texture may be roughened or normal, and the lesion is neither raised nor depressed.


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.


Increased circulating IgG3 level

description: An abnormally increased concentration of the IgG3 subtype in the blood circulation.


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.


name: Decreased proportion of CD3-positive T cells

description: Any abnormality in the proportion of CD3-positive T cells relative to the total number of T cells.


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.


Aplasia of the premaxilla

description: Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla.


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.


Thoracoabdominal eventration

description: Congenital protrusion of the abdominal or thoracic viscera, usually with a defect of the sternum and ribs as well as of the abdominal walls.


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.


Hypoammonemia

description: A decreased concentration of ammonia in the blood.


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.


Antiphospholipid antibody positivity

description: The presence of circulating autoantibodies to phospholipids.


name: Congenital malformation of the left heart

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


name: Elevated circulating alpha-aminoadipic semialdehyde concentration

description: Increased concentration of alpha-aminoadipic semialdehyde in the blood circulation.


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


name: Decreased CD25 upregulation upon TCR activation

description: Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR).


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.


Diffuse pancreatic islet hyperplasia

description: Hyperplasia of the islets of Langerhans with a generalized distribution.


Distal lower limb amyotrophy

description: Muscular atrophy of distal leg muscles.


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.


Sclerosis of foot bone

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


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: Abnormal circulating beta-C-terminal telopeptide concentration

description: A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover.


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.


Hip contracture

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


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.


name: Decreased circulating GABA concentration

description: A decrease in the level of GABA in the serum.


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: Impaired thromboxane A2 agonist-induced platelet aggregation

description: Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists.


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.


Handgrip myotonia

description: Difficulty releasing one's grip associated with prolonged first handgrip relaxation times.


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.


Abdominal adhesions

description: Fibrous bands (i.e., bands of scar-like tissue) that span two or more intra-abdominal organs and/or the inner abdominal wall (i.e. peritoneal membrane).


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).


name: Abnormal circulating histidine concentration

description: An abnormality of a histidine metabolic process.


Narrow uvula

description: Decreased width of the uvula.


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.


Abnormal mandible morphology

description: Any abnormality of the mandible, the bone of the lower jaw.


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.


Anti-perilipin-1 antibody positivity

description: The presence of autoantibodies in the serum that react against perilipin-1 (PLIN1).


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.


Abnormal blood oxygen level

description: An abnormality of the partial pressure of oxygen in the arterial blood.


Abnormal fetal physiology

description: Any functional anomaly of the fetus.


Ventricular arrhythmia

description: A disorder characterized by an electrocardiographic finding of an atypical cardiac rhythm resulting from a pathologic process in the cardiac ventricles.


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.


name: Decreased cervical spine flexion due to contractures of posterior cervical muscles


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.


name: Disorganization of the anterior cerebellar vermis


Abnormal T cell count

description: A deviation from the normal count of T cells.


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.


Muscle stiffness

description: A condition in which muscles cannot be moved quickly without accompanying pain or spasm.


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.


Anti-ryanodine receptor antibody

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


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.


Hypoplasia of fetal nasal bone

description: On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (PMID:16100637).


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


Abnormal circulating renin

description: A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions.


Ankle weakness

description: Reduced strength of the muscles that lift or otherwise move the foot at the ankle.


name: Elevated circulating histamine concentration

description: Increased concentration of histamine in the blood circulation.


Recurrent cutaneous fungal infections

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


Abnormal epiphysis morphology

description: An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.


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.


name: Elevated circulating dihydrothymine concentration

description: An increased concentration of dihydrothymine in the blood circulation. Dihydrouracil is an intermediate in the catabolism of thymine.


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.


Cafe-au-lait spot

description: Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.


EEG with 4-5/second background activity

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


Abnormal mediastinum morphology

description: Any structural anomaly of the central compartment of the thoracic cavity.


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.


Hypoalaninemia

description: A decreased amount of alanine in the blood.


name: Streaks of hyperkeratosis along each finger onto the palm


Perifollicular fibrosis

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


Anti-reticulin antibody positivity

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


CNS hypermyelination

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


name: Abnormal circulating calcitonin concentration

description: Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation outside of normal limits.


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.


name: Abnormality of tensor veli palatini muscle

description: An abnormality of the tensor veli palatini muscle


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.


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.


Epigastric pain

description: Pain that is localized to the region of the upper abdomen immediately below the ribs.


name: Decreased glucose-6-phosphate dehydrogenase level in leukocytes

description: A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes.


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.


Persistent viremia

description: Persistence of virus in the blood circulation longer than would be normal in an immunocompetent host.


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.


Abnormal circulating properdin level

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


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.


Cold-induced muscle cramps

description: Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures.


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.


Abnormal larynx physiology

description: Any anomaly of the function of the larynx.


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: Increased circulating argininosuccinic acid

description: An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation.