Bronchocentric granulomatosis

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

biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:ThingWithTaxon

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


Abnormal circulating beta-C-terminal telopeptide concentration

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.


Focal impaired awareness motor seizure with dysarthria/anarthria

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


Hip contracture

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.


Posterior helix pit

Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated.


Anterior predominant subcortical band heterotopia

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.


pituitary stalk interruption syndrome

biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:ThingWithTaxon

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.


Decreased circulating GABA concentration

A decrease in the level of GABA in the serum.


Testicular adrenal rest tumor

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

An increased level of uracil in the cerebrospinal fluid.


Impaired thromboxane A2 agonist-induced platelet aggregation

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


Intimal thickening in the coronary arteries


Curved distal phalanx of the 4th finger

Curved appearance of the distal phalanx of the 4th (ring) finger.


Decreased facial expression reciprocity

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


Abnormality of the urinary system physiology


Unilateral renal atrophy

A unilateral form of atrophy of the kidney.


Fibular metaphyseal irregularity

Irregularity of the normally smooth surface of a metaphysis of a fibula.


Elevated circulating long-chain acylcarnitine concentration

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),


Reduced number of intrahepatic bile ducts

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


prune belly syndrome

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


Reduced imaginative play skills

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).


Abnormal circulating histidine concentration

An abnormality of a histidine metabolic process.


Narrow uvula

Decreased width of the uvula.


Cigarette-paper scars

Thin (atrophic) and wide scars.


Patchy sclerosis of 4th toe phalanx

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.


Short palm

Short palm.


Abnormal mandible morphology

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


Focal sensory seizure with auditory features

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


Nodular subcortical heterotopia in peritrigonal regions

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


Absent pigmentation of the abdomen

Lack of skin pigmentation (coloring) of the abdomen.


myelocystocele

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

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


cerebral degeneration

A neurodegenerative disease that involves the telencephalon.


Dilated left subclavian artery

Abnormally increased caliber of the left subclavian artery.


Abnormal dental root morphology

An abnormality of the dental root.


Abnormal blood oxygen level

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


Abnormal fetal physiology

Any functional anomaly of the fetus.


Disproportionate prominence of the femoral medial condyle


Impaired neck-righting reflex

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.


Decreased cervical spine flexion due to contractures of posterior cervical muscles


Aplasia/Hypoplasia involving the nose

Underdevelopment or absence of the nose or parts thereof.


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


Advanced eruption of teeth

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


brachial plexus neuropathy

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


Disorganization of the anterior cerebellar vermis


Abnormal T cell count

A deviation from the normal count of T cells.


Benign genitourinary tract neoplasm

A non-malignant neoplasm of the genitourinary system.


Thistle tube shaped pulp

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

The presence of multiple lung cysts.


Increased level of ribitol in CSF

An increase in the level of ribitol in the cerebral spinal fluid.


External carotid artery calcification

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

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

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

Chronic rhinitis accompanied by pus formation.


Anti-ryanodine receptor antibody

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


Abnormal sexual behavior

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

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


Focal orofacial automatism seizure

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


Frontal hirsutism

Excessive amount of hair growth on forehead.


Duodenal atrophy

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


Perimembranous ventricular septal defect

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.


Hypoplasia of fetal nasal bone

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).


Supraventricular tachycardia with a manifest accessory pathway on the septum


Abnormal circulating renin

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

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


Recurrent cutaneous fungal infections

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


Abnormal epiphysis morphology

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.


Atrichia

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


Bleeding with minor or no trauma

Significant bleeding or hemorrhage without significant precipitating factor.


Abnormal cranial ganglion morphology

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


Cone-shaped epiphysis of the middle phalanx of the 2nd finger


Cervical vertebral bodies with decreased anteroposterior diameter


Elevated circulating dihydrothymine concentration

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


Hemiplegia/hemiparesis

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.


Focal cognitive seizure with hallucination

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


Abnormal spleen morphology

Any anomaly of the structure of the spleen.


Cafe-au-lait spot

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

EEG background activity at 4-5/second.


Abnormal mediastinum morphology

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


Fatigable weakness of neck muscles

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.


Focal aware cognitive seizure with neglect

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


Enamel hypomineralization

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


Irregular epiphyses of the 5th finger

Irregular radiographic opacity of the epiphyses of the 5th finger.


Hypoalaninemia

A decreased amount of alanine in the blood.


Streaks of hyperkeratosis along each finger onto the palm


Perifollicular fibrosis

Presence of excess fibrous connective tissue surrounding hair follicules.


Anti-reticulin antibody positivity

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


CNS hypermyelination

Increased amount of myelin in the central nervous system.


Macrotia

Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).


Abnormal circulating calcitonin concentration

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

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


Asherman syndrome

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


Chronic tubulointerstitial nephritis

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


Abnormality of tensor veli palatini muscle

An abnormality of the tensor veli palatini muscle


Fetal pericardial effusion

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

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


Aortic annulus calcification

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

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).


ganglioneuroma

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

A partial or complete breakage of the hindlimb bone.


Abnormal medulla oblongata morphology

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


Abnormality of cytokine secretion

An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells).


Hypoplastic trochlear nerve

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


Fusiform descending thoracic aortic aneurysm

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


Dermal translucency

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

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


Decreased glucose-6-phosphate dehydrogenase level in leukocytes

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


Precocious puberty with Sertoli cell tumor


Focal perseverative automatism seizure

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


Persistent viremia

Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host.


Focal aware sensory seizure with gustatory features

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


Multicentric ossification of proximal humeral epiphyses


Epidermal necrosis

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

Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes.


Aplasia of the middle phalanx of the 2nd toe


Abnormal magnesium concentration

An abnormality of magnesium ion homeostasis.


Abnormal circulating properdin level

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


Esophageal stricture

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

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


Abnormal cardiac ventricular function

An abnormality of the cardiac ventricular function.


Spinal myoclonus

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.


Reduced epidermal collagen VII protein expression


Levotransposition of the great arteries

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

Complete duplication of one or more phalanx of big toe.


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


Postnatal growth retardation

Slow or limited growth after birth.


Congenital symmetrical palmoplantar keratosis


dentinogenesis imperfecta

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


complement deficiency

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

Any anomaly of the function of the larynx.


Abnormality of the epiphysis of the 1st metacarpal

In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays.


familial multiple nevi flammei

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.


Increased circulating argininosuccinic acid

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


Irregular proximal tibial epiphyses

Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular.


Subendothelial glomerular basement membrane electron dense deposits

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


Left superior vena cava draining directly to the left atrium

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


Abnormal anterior semicircular canal morphology


Focal sexual automatism seizure

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


Mild receptive language delay

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


Abnormal proportion of naive B cells

A deviation in the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to the total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.


PR segment depression

A reduction in voltage of the PR segment below baseline.


Striatal T2 hyperintensity

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


Abnormality of the distal radial epiphysis

Any abnormality of the distal epiphysis of the radius.


Abnormality of the joint spaces of the elbow


Abnormality of the subungual region

A lesion located beneath a fingernail or toenail.


Proximal/middle symphalangism of 5th toe

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


Temporomandibular joint adhesion

Formation of one or more fibrous bands within the temporomandibular joint (TMJ) with resulting limitation of movement of the TMJ. Adhesions may be seen in degenerative processes that involve the TMJ.


Increased total iron binding capacity

An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity.


Focal impaired awareness sensory seizure with visual features

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


Microcephaly

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


Episodic pain

Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals.


Aortic medial fibrosis

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


Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal

Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal.


Abnormal renal arteriole morphology

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


Long distal phalanx of finger

Increased length of the distal phalanx of finger.


Decreased circulating IgG4 level

A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation.


Symphalangism affecting the proximal phalanx of the 4th finger

Fusion of the proximal phalanx of the 4th finger with another bone.


Presacral teratoma

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


Fragmentation of the epiphysis of the distal phalanx of the hallux


Senile plaques

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


Hand tremor

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


Erythematous macule

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


Focal aware automatism seizure

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


Spinocerebellar tract disease in lower limbs


Elevated urine L-alloisoleucine level

Abnormally increased level of L-alloisoleucine in the urine.


Abnormal distal ulnar epiphysis morphology

Any abnormality of the distal epiphysis of the ulna.


Irregular epiphysis of the distal phalanx of the hallux


Abnormality of the distal phalanx of the hallux


Hip adductor weakness

Reduced ability to bring the leg toward the midline of the body.


spastic hemiplegia

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


Sensory hypersensitivity

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


Osteoporotic metatarsal

Decrease in mass and density of the metatarsal bones.


Increased proportion of effector memory CD8-positive, alpha-beta T cells

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


Thumb extension contracture

Movement in the sagittal plane that increases the angle of the thumb joint (straightens the joint); motion involving posterior bending of the vertebral column or returning to the upright position from a flexed position.


Postprandial hyperlactemia

Abnormally increased level of blood lactate following a meal.


Elevated circulating 3-hydroxyhexadecanoylcarnitine concentration

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


pterygium

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


Renal interstitial immunoglobulin deposits

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


Wrist pain

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


Prolonged QTc interval

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


Type IV atherosclerotic lesion

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


Thyroid lymphangiectasia

The presence of lymphangiectasis of the thyroid gland.


Hypoplastic nasopharyngeal adenoids

Underdevelopment of the nasopharyngeal adenoids.


Partial duplication of the phalanx of hand

A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.


Symphalangism affecting the proximal phalanx of the 3rd toe


Peripheral primitive neuroectodermal neoplasm

A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone.


Abnormality of extrinsic muscle of tongue


Abnormal tongue morphology

Any structural anomaly of the tongue.


Reduced circulating acylcarnitine concentration

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


Patchy sclerosis of the distal phalanx of the 2nd finger

Uneven (irregular) increase in bone density of the distal phalanx of the second finger.


Lip pit

A depression located on a lip.


Preauricular hair displacement

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


Ecchymosis

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


Anti-platelet derived growth factor receptor

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against platelet derived growth factor receptor.


juvenile type testicular granulosa cell tumor

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


Carpal bone aplasia

Congenital absence of a carpal bone.


Unilateral vestibular schwannoma

A unilateral vestibular schwannoma (acoustic neurinoma).


Splenic xanthomatosis

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


Interphalangeal thumb joint contracture

Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis.


Reduced sharing of interests

Decreased sharing of interests with others appropriate to culture and developmental level.


Bracket epiphysis of the proximal phalanx of the 4th finger

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


2-3 toe syndactyly

Syndactyly with fusion of toes two and three.


Chiari malformation type II

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


Elevated right atrial pressure

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


tongue neoplasm

A neoplasm (disease) that involves the tongue.


Transient decreased circulating total IgG

A temporary reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.


Opportunistic fungal infection

An infection that is caused by a fungus that would generally not be able to cause an infection in a host with a normal immune system. Such fungi take advantage of the opportunity, so to speak, that is provided by a weakened immune system.


Fetal nuchal edema

Nuchal edema is considered present in a fetus at gestational week 14 or more if in the midsagittal plane of the neck, there is subcutaneous edema that produces a characteristic tremor on ballotment of the fetal head. This constitutes the severe end of the spectrum of increased nuchal fold thickness, which is defined as soft-tissue thickening of 6 mm or more, seen in the suboccipitobregmatic view of the fetal head. Nuchal edema may be confined to the neck or it may be generalized, as part of hydrops fetalis.


Midline nasal groove

An abnormal groove on the midline of the nose that may extend to the nasal tip.


Pili canaliculi

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


Cutaneous sclerotic plaque

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


Monomorphic vesicular eruption

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


urticaria, aquagenic

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


Hepatic agenesis

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


Abnormal metabolism

An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products.


Elevated RV/TLC ratio

An increase in the ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and (3) body plethysmography. An elevated RV/TLC can be interpreted as a sign of air trapping and hyperinflation.


facial nerve disorder

A disease involving the facial nerve.


Abnormal tarsal ossification

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


Hypoplasia of the olfactory bulb

Underdevelopment of the olfactory bulb.


Phobia

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


Abnormal thrombosis

Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).


Increased circulating heparan sulfate level

An abnormal increase in the concentration of heparan sulfate in the blood.


Functional abnormality of the inner ear

An abnormality of the function of the inner ear.


Linear IgG deposits along the epidermal basement membrane zone

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


Absent uvula

Lack of the uvula.


Osteolytic defects of the middle phalanx of the 5th toe


Anti-GlyR antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Glycine receptor (GlyR).


Esophageal duplication

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


Absent right sided atrioventricular connection

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


Small cervical vertebral bodies

Reduced size of cervical vertebrae.


Atrial septal hypertrophy

An abnormal increase in the thickness of the atrial septum.


Irregular epiphyses of the middle phalanges of the hand


Proximal/middle symphalangism of 3rd finger

Fusion of the proximal and middle phalanges of the 3rd finger.


Hepatic hemophagocytosis

Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages observed in the liver.


Positive lupus band test

Deposits of immunoglobulins and complement components along the dermoepidermal junction.


Impaired neutrophil killing of staphylococci

A reduction in the ability of neutrophils to kill the gram-positive bacteria, staphylococcus, which is commonly known as staph.


Substantia nigra dopaminergic neuron loss

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


Inflexible adherence to routines

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


Fixated interests

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


Narrow incisura width

Width of the incisura from the anterior to posterior border less than that observed in the average population.


Basilar artery calcification

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


Abnormal ovarian physiology

Any anomaly of ovarian function.


neuroblastic tumor

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


Acrocyanosis

Bluish discoloration of the skin of the hands or feet.


myoclonic-astatic epilepsy

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


Abnormality of frontal process of maxilla

An abnormality of a frontal process of the maxilla bone.


Ivory epiphysis of the middle phalanx of the 5th finger

Sclerosis of the epiphysis of the middle phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Hypothalamic gonadotropin-releasing hormone deficiency


Mild albuminuria

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


Interlobular vein intima/media multilamellation

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


Severe sensorineural hearing impairment

A severe form of sensorineural hearing impairment.


Peripheral arterial calcification

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


Impaired epinephrine-induced platelet aggregation

Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine.


Pulmonic valve myxoma

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


Abnormal morphology of the proximal phalanx of the 2nd toe


Palpable purpura

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


aplasia cutis congenita

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


Unicuspid aortic valve

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


Vocal cord paresis

Decreased strength of the vocal folds.


Rounded middle phalanx of finger

An abnormally round shape of the middle phalanx of the finger.


Y-shaped metatarsals

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


Aplasia cutis congenita of midline scalp vertex


Abnormal thyroid-stimulating hormone level

Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.


vaginal neoplasm

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


Reduced attempt to get or direct attention of peers


Bilateral intracerebral calcifications

Deposition of calcium salts on both sides of the brain.


Tibial bowing

A bending or abnormal curvature of the tibia.


High posterior hairline

Hair on the neck extends less inferiorly than usual.


Bilateral single transverse palmar creases

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


Episodic fatigue

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


atresia of urethra

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


Subarterial ventricular septal defect

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


paranasal sinus neoplasm

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


Asternia

The congenital absence of the sternum.


Animal dander allergy

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


Increased circulating complement factor H related protein 1 concentration

Elevated level of circulating complement factor H related protein 1 concentration in the blood circulation.


chylous ascites

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


Abnormal odontoid process morphology

Abnormal structure of the odontoid process, which is a part of the C2 or axis vertebra and forms pivot of the structures forming the craniovertebral junction. The odontoid process is also known as the dens of the axis.


Focal aware cognitive seizure with illusion

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


Midclavicular aplasia

Developmental defect resulting in congenital absence of the middle portion of the clavicle.


Focal impaired awareness cognitive seizure

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


Ivory epiphysis of the proximal phalanx of the 3rd toe


Peripheral hypermyelination

Increased amount of peripheral myelination.


Sparse anterior scalp hair

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


Herpetiform vesicles

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


Cognitive fatigue

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


Complete duplication of the middle phalanx of the 2nd toe

Complete duplication of middle phalanx of second toe.


Ivory epiphysis of the proximal phalanx of the 4th toe


Fetal abdominal cyst

Fetal abdominal cysts are usually detected during the second trimester anomaly scan or discovered incidentally at later gestations. However, a definitive diagnosis is often not made until postnatal life. The most common etiologies of fetal abdominal cysts are: ovarian, gastrointestinal cystic duplication, liver and choledochal, meconium pseudocysts, mesenteric and adrenal. Following identification of a cyst, careful morphological assessment allows the prediction of their natural history and importantly, the likelihood of surgical intervention being required postnatally.


Precocious puberty in males

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


Anti-pituitary antibody positivity

Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function.


Long ulna

Increased length of the ulna.


diffuse nonepidermolytic palmoplantar keratoderma

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


Curved 4th toe phalanx

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


Sclerosis of the proximal phalanx of the 5th finger


EEG with temporal focal spike waves

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


Focal sensory seizure with cephalic sensation

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


Hyperplasia of the Leydig cells

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


Anti-thyroglobulin antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin.


Parasite allergy

Hypersensitivity in form of an adverse immune reaction against parasites.


Polygonal renal calices

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


Cutaneous anergy

Inability to react to a delayed hypersensitivity skin test.


Impaired cortisol response to insulin stimulation test

Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT).


Bilateral radial aplasia

Missing radius bone on both sides associated with congenital failure of development.


Onychogryposis

Nail that appears thick when viewed on end.


Hyperdynamic left ventricular ejection fraction

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


Fractured metacarpus skeleton

A partial or complete breakage of the metacarpus skeleton.


Widow's peak

Frontal hairline with bilateral arcs to a low point in the midline of the forehead.


Bilateral coxa valga

The presence of bilateral coxa valga.


Abnormal HDL2a concentration

Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2a particle is defined as an HDL particle with a size of 8.80-9.69 nm.


Dust particle inclusion in alveolar macrophages

Accumulation of inhaled, nondigestable particles in macrophages.


Abnormal blood potassium concentration

An abnormal concentration of potassium.


Triangular shaped distal phalanx of the 2nd toe


Long term memory impairment

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


Triangular shaped distal phalanges of the hand


Neutrophilic infiltration of the skin

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


telangiectasia macularis eruptiva perstans


Foot osteomyelitis

An infection of bone of the foot.


Calcification of the small brain vessels

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


Enamel pearls

Small nodules of enamel on the root of a tooth.


Aplasia/Hypoplasia of the mandible

Absence or underdevelopment of the mandible.


Curved proximal phalanx of the 4th finger


Stroke-like episode

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


Abnormal ischium morphology

An anomaly of the ischium, which forms the lower and back part of the hip bone.


Abnormal morphology of the nasal alae

An abnormality of the Ala of nose.


inner ear neoplasm

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


Increased inflammatory response

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


Abnormal consumption behavior

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


Absent sternal ossification

Lack of formation of mineralized bony tissue of the sternum.


Coronary ostial atresia

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


Anterior pituitary agenesis

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


Weakness of muscles of respiration

Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles.


Paresis of extensor muscles of the big toe


Decreased urinary 3-methylhistidine

Decreased concentration of 3-methylhistidine in the urine.


Splayed toes

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


isolated congenital adermatoglyphia

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


Osteolytic defects of the phalanges of the 3rd toe


Anti-aquaporin 4 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against aquaporin-4.


Complete right sided absence of pericardium

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


Abnormal circulating protein concentration

An abnormal level of a circulating protein in the blood.


Absent palatine bone ossification

Lack of formation of the palatine bone.


Arteria lusoria

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


Olivopontocerebellar hypoplasia

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


Cone-shaped epiphyses of the 2nd finger

A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.


Myoclonic absence seizure

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


Experiential epileptic aura

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


Coronary artery fistula

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


Prenatal double bubble sign

Sonographic detection of a double bubble sign in the upper abdomen is strongly indicative of duodenal obstruction. One bubble represents fetal stomach, and the other is attributed to a dilated proximal part of the duodenum; continuity between both bubbles is required for the sign.


Segmental hypoplasia of liver

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


Hydroureter

The distention of the ureter with urine.


Hepatic focal nodular hyperplasia

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


Cortical radial artery intima/media arteriosclerosis

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


Dystopic os odontoideum

Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process. With orthotopic os odontoideum, the ossicle moves with the anterior arch of the atlas, while the dystopic type consists of an ossicle near the basion, or one that is fused with the clivus


Palmar hyperkeratosis

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


Polymorphic and polytopic ventricular extrasystoles


Fatigable weakness of chewing muscles

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


Ivory epiphysis of the middle phalanx of the 2nd toe


Persistent stapedial artery

Persistence of the stapedial artery, which normally regresses during embryonic life.


Migrating focal seizure

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


breast fibroadenoma

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


Anti-contactin-associated protein 1 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-contactin-associated protein 1.


Short foot

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


medulloblastoma

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


congenital pulmonary airway malformation

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


Milky appearance of bronchoalveolar lavage fluid

Return of lavage fluid with a milky apperance due to the accumulation of a mixture of pulmonary surfactant, which is a lipoprotein complex, in the alveolar space.


Translamellar mucoid extracellular matrix accumulation

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


Left ventricular noncompaction cardiomyopathy

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


Superior pubic ramus hypoplasia

Underdevelopment of the upper branch of the pubis bone (inferior pubic ramus).


Aplasia/Hypoplasia of the thumb

Hypoplastic/small or absent thumb.


fibrous dysplasia

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


Prominent nasal bridge

Anterior positioning of the nasal root in comparison to the usual positioning for age.


Patchy sclerosis of toe phalanx

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


Bullet-shaped 2nd toe phalanx

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


Abnormal proportion of central memory CD4-positive, alpha-beta T cells

An abnormal proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.


Abnormal DLCO

An abnormal amount of oxygen passes into the blood from the lungs and/or an abnormal amount of carbon dioxide passes from the blood into the lungs.


Curved middle phalanx of the 3rd finger

Curved appearance of the middle phalanx of the 3rd (middle) finger.


Reflex asystolic syncope

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


Abnormality of body mass index

Anomaly in the weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of obesity and underweight compared to averages.


Marginal umbilical cord insertion

Insertion of the umbilical cord within 2 cm from the placental edge.


Hypoamylasemia

Decreased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.


Tendon xanthomatosis

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


Yellow subcutaneous tissue covered by thin, scaly skin


Cerebellar ataxia associated with quadrupedal gait

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


Decreased comfort with casual physical contact

An abnormal reduction in the interest or frequency of physical contact with others as compared with the usual behavior of an individual. For instance, an individual may choose to stand farther apart from others in conversations or decline physical contact when offered during social interactions.


Pseudoepiphysis of the distal phalanx of the thumb

A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb.


Hypermobility of interphalangeal joints

The ability of the interphalangeal joints to move beyond their normal range of motion.


Abnormal midbrain morphology

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


Patellar hypoplasia

Underdevelopment of the patella.


Elevated circulating membrane cofactor protein concentration

Concentration of membrane cofactor protein in the blood circulation above the upper limit of normal.


Abnormal level of platelet-activating factor


Factor X activation deficiency

Reduced ability to transform factor X into its activated form factor Xa.


Absent toenail

Congenital absence of the toenail.


Amyelia

Congenital absence of the spinal cord.


Abnormality of premolar

An abnormality of premolar tooth.


Fluctuating hepatomegaly

Intermittently increased size of the liver.


Abnormality of the hypothalamus-pituitary axis

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


Toenail dysplasia

An abnormality of the development of the toenails.


Absent epiphysis of the distal phalanx of the 4th toe


3-methylglutaconic aciduria

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


Increased proportion of memory T cells

An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood.


Neonatal electro-clinical tonic seizure

Neonatal electro-clinical tonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a sustained increase in muscle tone, usually focal, that can be unilateral or bilateral, and lasting a few seconds to minutes.


Cystathioninemia

An increased concentration of cystathionine in the blood.


Short phalanx of the 5th toe

Developmental hypoplasia of one or more phalanx of little toe.


Hypomature dental enamel

A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color.


Inappropriately normal thyroid-stimulating hormone level

A normal or elevated serum thyroid-stimulating hormone (TSH) level in the face of an elevation in circulating FT4 and/or FT3.


familial isolated hypoparathyroidism due to agenesis of parathyroid gland

Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis).


Thyrotoxicosis with toxic multinodular goiter


Increased CSF N-acetylaspartic acid concentration

An abnormally increased concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF).


Aorto-right ventricular tunnel

The presence of an extracardiac channel that connects the ascending aorta above the sinotubular junction to the cavity of the right ventricle.


Abnormal circulating heparan sulfate level

An abnormal level of heparan sulfate in the blood.


Cone-shaped epiphyses of phalanges 2 to 5


Anti-glutamic acid decarboxylase antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase.


Femoral retroversion

An abnormal backward rotation of the hip relative to the knee such that the hips are externally rotated with the foot pointed outward instead of straight ahead (out-toeing).


Abnormal rib cage morphology

A morphological anomaly of the rib cage.


Megaloblastic erythroid hyperplasia

A laboratory test result indicating an abnormally high quantity of abnormal immature red blood cells with megaloblastic features.


Curved 2nd toe phalanx

A deviation from the normal straight form of one or more phalanges of the second toe.


Thyroid hyperplasia

Hyperplasia of the thyroid gland.


neoplasm of testis

A neoplasm (disease) that involves the testis.


Proprioceptive-induced seizure

A seizure precipitated by movement or a change in posture.


Increased skull ossification

An increase in the magnitude or amount of ossification of the skull.


Knee flexion contracture

A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.


Anti-salivary protein antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against salivary protein.


Increased KCO

Increased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index).


Triangular epiphysis of the proximal phalanx of the 5th finger

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


Pineal gland calcification

Accumulation of calcium salts in the pineal gland.


posterior pituitary gland neoplasm

A low-grade neoplasm that arises from the neurohypophysis. It includes the granular cell tumor of the neurohypophysis and pituicytoma.


2-5 toe syndactyly

Syndactyly with fusion of toes two to five.


Carnosinuria

An increased concentration of carnosine in the urine.


Hypertension associated with pheochromocytoma

A type of hypertension associated with pheochromocytoma.


Saccular abdominal aortic aneurysm

An eccentric abnormal localized widening (dilatation) of the abdominal aorta that involves only a portion of the circumference of the vessel wall.


Abnormality of the middle phalanx of the 5th finger


Abnormal perceptual state

Temporary alteration of the awareness of reality or self-perception.


Aplasia/Hypoplasia of the middle phalanx of the 4th finger


Triangular epiphysis of the proximal phalanx of the 4th finger

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


Anti-ganglioside antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides.


Focal impaired awareness clonic seizure

A type of focal clonic seizure during which awareness is partially or fully impaired at some point in the seizure.


pseudobulbar palsy

A condition affecting cranial nerves IX-XII resulting from upper motor neuron damage arising from a variety of causes.


Defective B cell differentiation

Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity.


Absent microvilli on the surface of peripheral blood lymphocytes

Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes.


spondyloepimetaphyseal dysplasia

An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis.


Progressive distal muscle weakness

Progressively reduced strength of the distal musculature.


Anti-bicaudal D2 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against bicaudal D2.


Self-injurious behavior

Self-aggression.


Reduced antral follicle count

A count of antral follicles that is lower than normal for age.


Abnormal speech rhythm

Speech with abnormal rhythm or pattern


Cone-shaped epiphysis of the thumb

A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.


Wide space between 4th and 5th toe

A widely spaced gap between the fourth toe and the fifth (pinky) toe.


Hypoganglionosis

Sparse and small myenteric ganglia


Aplasia/Hypoplasia of the tragus

Aplasia or developmental hypoplasia of the tragus.


Mesangiolysis

Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain.


Reduced maximal expiratory pressure

A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration.


Encysted hydrocele of the cord

A type of hydrocele testis in which both the proximal and distal portions of processus vaginalis get obliterated while the central portion remains patent and fluid accumulates within it.


Eruptive xanthomas

Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur.


Cardiac total anomalous pulmonary venous connection

Type 2 total anomalous pulmonary venous connection.


Aplasia/Hypoplasia of the quadriceps

Absence or underdevelopment of the quadriceps muscle.


Aplasia/Hypoplasia involving the metacarpal bones

Aplasia or Hypoplasia affecting the metacarpal bones.


Hyperextensibility of the finger joints

The ability of the finger joints to move beyond their normal range of motion.


Fractured proximal phalanx of pedal digit 1

A partial or complete breakage of the proximal phalanx of pedal digit 1.


Anti-class II HLA antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class II human leukocyte antigen (HLA). Class I HLA corresponds to MHC class II (DP, DM, DO, DQ, and DR).


Abnormal male germ cell morphology

A structural anomaly of a male reproductive cell.


Claw hand deformity

An abnormality of the hand characterized by metacarpophalangeal (MCP) hyperextension and proximal interphalangeal (PIP) and distal interphalangeal (DIP) flexion. The position of the affected hand is said to resemble a claw.


Triangular epiphyses of the 3rd finger

A triangular appearance of the epiphyses of the 3rd finger of the hand.


Altman type III sacrococcygeal teratoma

A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass.


Persistent asymmetrical tonic neck reflex

Persistence beyond the normal age (roughly the first half of the first year of life) of the asymmetric tonic neck reflex (ATNR), which is an easily elicited primitive reflex in the immediate newborn period. The ATNR refers to the phenomenon whereby when the face of an infant is turned to one side, the ipsilateral arm and leg extend and the contralateral arm and leg flex. This posture has been compared to a typical posture of fencers.


mitochondrial complex II deficiency, nuclear type 1

Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers.


Pituitary blastoma

Pituitary blastoma is a distinctive anterior hypophyseal tumor of infants


Flared metaphysis

The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.


Anterior open-bite malocclusion

Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion.


Atherosclerotic lesion

A lesion associated with atherosclerosis, a multifactorial and multipart progressive disease manifested by the focal development within the arterial wall of lesions, that ranges from teh development of a fatty streak, plaque progression, and plaque disruption. Atherosclerotic lesions demonstrate consistent morphological characteristics, which indicate that each type may stabilize temporarily or permanently and that progression to the next type may require an additional stimulus.


Proximal hyperreflexia

Hyperactive stretch reflexes of muscles that move proximal joints (elbow, knee).


Generalized seborrheic dermatitis

Seborrheic dermatitis that is not localized to any one particular region.


Aplasia of the 4th finger

Absent 4th finger.


Increased proportion of CD8-positive, alpha-beta TEMRA T cells

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


Polyotia

The presence of an extra auricle on one or both sides of the head.


Increased serum lactate

Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).


Skin pit

A small, skin-lined tract that leads from the surface to deep within the tissues.


Palmoplantar hypohidrosis

Decreased sweating on the palms and soles.


Abnormal endocrine physiology

Any anomaly of the function of the endocrine system.


Abnormal cardiomyocyte morphology

Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue.


Nevus flammeus of the forehead

Naevus flammeus localised in the skin of the forehead.


lipomyelomeningocele

Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome.


Convex nasal ridge

Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.


Abnormal calvaria morphology

Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain.


Unguarded tricuspid valve

A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue.


Enlarged brainstem

Abnormal increase in size of the brainstem.


Sclerosis of the middle phalanx of the 5th finger


antecubital pterygium syndrome

Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric.


Curvilinear subcortical heterotopia

Large subcortical heterotopia of variable morphology wiht streaks and swirls. These always connect to the overlying cortex in at least one, but usually in multiple, locations. Spaces with the signal intensity of CSF are usually seen within the heterotopia.


Biliary hyperplasia

Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia.


Mild short stature

A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.


Abnormal stomach morphology

An abnormality of the stomach.


chordoma

Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton.


Hyperfibrinogenemia

Increased concentration of fibrinogen in the blood.


Abnormal circulating sulfur amino acid concentration

Any deviation from the normal concentration of a sulfur amino acid in the blood circulation.


Focal aware sensory seizure with cephalic sensation

A seizure characterized by a sensation in the head such as light-headedness or headache.


Abnormality of the middle phalanx of the 5th toe


Duplication of the distal phalanx of hand

This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.


Four-vessel umbilical cord

Four-vessel umbilical cord containing two arteries and two veins.


Abnormal glial cell morphology

An abnormality of the glia cell.


Coronal craniosynostosis

Premature closure of the coronal suture of skull.


Balanced double aortic arch

A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch.


Duodenal gastric metaplasia

Foci of gastric-type mucus-secreting cells interspersed between duodenal enterocytes. These foci of gastric epithelial cells contain Periodic acid-Schiff (PAS)-positive neutral mucin and lack a brush border.


Abnormal platelet lysosome secretion

Abnormal release of lysosome contents from platelets.


Depressed nasal tip

Decreased distance from the nasal tip to the nasal base.


Atrioventricular valve regurgitation

Regurgitation of a heart valve that controls blood flow from a an atrium to a ventricle, including mitral, tricuspid, or, rarely, single atrioventicular valve.


Localized pulmonary hemorrhage

Circumscribed pulmonary hemorrhage originating from a single bleeding site in the lungs. This can be due to infections, tumorigenesis, foreign bodies, or vascular abnormalities. Patient often feel the site of bleeding, contrast CT scan or angiography may localize the bleeder.


Altman type I sacrococcygeal teratoma

A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks.


lethal infantile mitochondrial myopathy

Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.


Mixed total anomalous pulmonary venous connection

Type 4 total anomalous pulmonary venous connection.


Sclerosis of skull base

Increased bone density of the skull base without significant changes in bony contour.


Areflexia of upper limbs

Inability to elicit tendon reflexes in the upper limbs.


Bloodstream infectious agent

The presence of an infectious agent in the blood circulation.


Abnormal fetal skeletal morphology

An anomalous structural finding of the fetal skeleton. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other terms from the skeletal hierarchy can also be used to describe fetal phenotypes.


Malrotation of colon

An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis.


Ectopic pancreatic tissue

The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut.


Broad philtrum

Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum.


Abnormal subpleural morphology

Any structural anomaly located between the pleura and the chest wall.


Progeroid facial appearance

A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance.


Broad femoral neck

An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).


Hypoplastic right atrium

Underdeveloped, small right heart atrium.


Rounded atelectasis

Rounded atelectasis is rounded collapsed lung associated with invaginated fibrotic pleura and thickened and fibrotic interlobular septa. Most frequently, it is the consequence of an asbestos-induced exudative pleural effusion with resultant pleural scarring, but it may occur with any cause of pleural fibrosis. On chest radiographs, rounded atelectasis appears as a mass abutting a pleural surface, usually in the posterior part of a lower lobe. Distorted vessels have a curvilinear disposition as they converge on the mass (the comet tail sign). The degree of lobar retraction depends on the volume of atelectatic lung. It is almost invariably associated with other signs of pleural fibrosis (eg, blunting of costophrenic angle). CT is more sensitive for the detection and display of the characteristic features of rounded atelectasis. An additional sign is homogeneous uptake of contrast medium in the atelectatic lung.


Neck hypertonia

Increased passive stiffness or tightness of the neck musculature.


Intrahepatic biliary atresia

Atresia in the intrahepatic bile duct.


Anti-Complement factor H antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against complement factor H.


High, narrow palate

The presence of a high and narrow palate.


dysgammaglobulinemia

An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins.


Increased level of gamma-aminobutyric acid in urine

Elevated concentration of gamma-aminobutyric acid in the urine.


Abnormal bronchoalveolar fluid protein level

Any deviation from the normal concentration of protein in the bronchoalveolar fluid.


Elevated coagulation factor V activity

Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex.


Thin lower lip vermilion

Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective).


Ventricular ectopy

Ventricular ectopics, also known as ventricular extrasystoles, premature ventricular contractions or complexes (PVC) and ventricular premature depolarisations (VPD) are beats arising from within the ventricles. When they occur in groupings such as bigeminy, trigeminy, couplets and triplets they are referred to as ventricular ectopy.


Delayed ossification of the scaphoid

Formation of bone tissue of scaphoid is less than expected for age.


Decreased thalamic volume

A reduction in the quantity of space occupied by the thalamus.


Absent middle phalanx of 3rd finger

Absence of the middle phalanx of the middle (3rd) finger.


cobblestone lissencephaly

Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent.


Bilateral talipes equinovarus

Bilateral clubfoot deformity.


Abnormal granulocyte count

Any deviation from the normal cell count per volume of granulocytes in the blood circulation.


Delayed menarche

First period after the age of 15 years.


Polyclonal elevation of IgM

A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis.


Abnormal male reproductive system physiology

An abnormal functionality of the male genital system.


Brittle scalp hair

Fragile, easily breakable scalp hair.


monilethrix

Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.


Inappropriate laughter

Laughing that may be excessive and/or inappropriate in context (e.g., laughing at a funeral while others are crying).


Distal widening of metacarpals

Abnormal increase in width of the distal region of the metacarpal bones.


Perisylvian predominant thick cortex pachygyria

Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.


Elevated circulating rT3/T3 ratio

An abnormally increased ratio of the concentrations of reverse T3 to T3 in the blood circulation.


Decreased circulating androgen concentration

A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.


acoustic neuroma

A type of benign brain tumor that begins in the Schwann cells, which produce the myelin that protects the acoustic nerve - the nerve of hearing.


Congenital hypertrophy of left ventricle


Increased circulating 18-hydroxycortisone level

An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation.


Sclerosis of hand bones with transverse striations


Abnormal ventricular filling

An abnormality of filling of a ventricle with blood during diastole.


Hippocampal microinfarct

An infarct located in the structure of the cerebrum involved with memory storage and spatial navigation that can only be observed microscopically.


Anti-Gerbich phenotype 1 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ge-1.


Triangular shaped middle phalanx of the 5th finger

Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Neonatal electro-clinical motor seizure

Neonatal electro-clinical motor seizure is a type of neonatal electro-clinical seizure with predominant motor features.


Supraventricular tachycardia with a concealed accessory pathway on the septum


Triangular shaped proximal phalanges of the hand


Abnormal renal vascular morphology

Anomalous structure of a blood vessel in the kidney.


Torus palatinus

A bony protrusion present on the midline of the hard palate.


Imperforate atrioventricular valve

An atrioventricular valve that has failed to open (atretic).


Pulmonary situs ambiguus with bilateral morphologic right lungs

An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lung.


Unicoronal synostosis

Synostosis affecting only one of the coronal sutures.


sensorineural hearing loss disorder

Hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII).


Fractured epiphysis of third metatarsal bone

A partial or complete breakage of the epiphysis of third metatarsal bone.


Ivory epiphysis of the proximal phalanx of the 5th toe


hereditary episodic ataxia

Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2.


Deviation of the hallux

Displacement of the big toe from its normal position.


Focal autonomic seizure with lacrimation

A type of focal autonomic seizure characterized by lacrimation as the initial semiological feature.


Ameloblastoma

Ameloblastoma is a benign odontogenic tumor generally present in the jaw bone. The tumor originates from the residual epithelium of the tooth germ, epithelium of odontogenic cysts stratified squamous epithelium and epithelium of the enamel organ.


Focal impaired awareness emotional seizure with crying

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


Intestinal duplication

A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine.


Decreased palmar creases

Poorly defined or shallow palmar creases.


Elbow flexion contracture

An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.


Mandibular osteomyelitis

Osteomyelitis of the lower jaw.


Stiff toe

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


Reduced erythrocyte glutathione concentration

Concentration of glutathione in red blood cells below the lower limit of normal. Glutathione (GSH) is an important redox active biomolecule critical in the maintenance and regulation of cellular and organismal health.


Sclerosis of the distal phalanx of the 2nd finger


Curved proximal phalanx of the 5th finger

Curved appearance of the proximal phalanx of the 5th finger.


Proximal muscle weakness

A lack of strength of the proximal muscles.


Hallux valgus

Lateral deviation of the great toe (i.e., in the direction of the little toe).


Absent dermoepidermal hemidesmosomes

Lack of demonstrable hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin.


Fractured lateral malleolus of fibula

A partial or complete breakage of the lateral malleolus of fibula.


Sternocleidomastoid amyotrophy

Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head.


Abnormal proportion of immature gamma-delta T cells relative to the total number of T cells.


Abnormal lymphocyte proliferation

Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population.


Reduced alpha-2-antiplasmin activity

Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis.


dentin dysplasia

Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II.


T2 hypointense brainstem

A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem.


Narrow pelvis bone

Reduced side to side width of the pelvis.


lymphatic system disorder

A disease involving the lymphatic part of lymphoid system.


Anti-granulocyte-macrophage colony stimulating factor antibody positivity

The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor.


Eclabion

A turning outward of the lip or lips, that is, eversion of the lips.


Facial hypertrichosis

Excessive, increased hair growth located in the facial region.