Butterfly vertebral arch

description: Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends.


Sandwich appearance of vertebral bodies

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


Enlarged vertebral pedicles

description: Increased size of the vertebral pedicle.


name: Progressive intervertebral space narrowing

description: A progressive form of decreased height of the intervertebral disk.


Biconvex vertebral bodies

description: Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates.


Small cervical vertebral bodies

description: Reduced size of cervical vertebrae.


Anterior beaking of thoracic vertebrae

description: Anterior tongue-like protrusions of thoracic vertebral bodies.


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


Cervical segmentation defect

description: An abnormality related to a defect of vertebral separation of cervical vertebrae during development.


Lower thoracic kyphosis

description: Over curvature of the lower thoracic region, leading to a round back or if sever to a hump.


Cervical C5/C6 vertebrae fusion

description: Fusion of the C5 and C6 cervical vertebrae.


name: Elevated amniotic fluid alpha-fetoprotein

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


Hypoplasia of the nasal bone

description: Underdevelopment of the nasal bone.


Hypoplasia of facial musculature

description: Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve).


Frontalis muscle weakness

description: Reduced strength of the frontalis muscle (which is located on the forehead).


Facial midline hemangioma

description: Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face.


Decreased facial expression

description: A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions.


Deep longitudinal plantar crease

description: Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot.


Talipes valgus

description: Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot.


Short third metatarsal

description: Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone.


Short fourth metatarsal

description: Short fourth metatarsal bone.


Thickened Achilles tendon

description: An abnormal thickening of the Achilles tendon.


2-3 toe syndactyly

description: Syndactyly with fusion of toes two and three.


4-5 toe syndactyly

description: Syndactyly with fusion of toes four and five.


Calcaneal epiphyseal stippling

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus.


Osteoporotic metatarsal

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


Short fifth metatarsal

description: Short (hypoplastic) fifth metatarsal bone.


Renal malrotation

description: An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney.


Reversible renal failure

description: Acute renal failure with resolution of manifestations.


Axial malrotation of the kidney

description: An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney.


Hyperechogenic kidneys

description: An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal.


Thickened glomerular basement membrane

description: Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney.


Calcium nephrolithiasis

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


Impaired renal concentrating ability

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


Impaired renal uric acid clearance

description: A reduction in the ability of the kidneys to remove uric acid from the serum.


Renal cortical microcysts

description: Cysts of microscopic size confined to the cortex of the kidney.


Crossed fused renal ectopia

description: A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys.


Global glomerulosclerosis

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


name: Abnormal renal collecting system morphology

description: An abnormality of the renal collecting system.


Chronic tubulointerstitial nephritis

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


Paroxysmal ventricular tachycardia

description: Episodes of ventricular tachycardia that have a sudden onset and ending.


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


Permanent atrial fibrillation

description: Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent.


Supraventricular tachycardia

description: Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles.


Paroxysmal atrial fibrillation

description: Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.


name: Effort-induced polymorphic ventricular tachycardia

description: Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration.


name: Post-angioplasty coronary artery restenosis


Hypoplasia of right ventricle

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


Paroxysmal supraventricular tachycardia

description: An episodic form of supraventricular tachycardia with abrupt onset and termination.


Myxomatous mitral valve degeneration

description: Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view.


Sparse anterior scalp hair

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


Brittle scalp hair

description: Fragile, easily breakable scalp hair.


Duodenal polyposis

description: Presence of multiple polyps in the duodenum.


Juvenile gastrointestinal polyposis

description: The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps.


Malrotation of colon

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


Fulminant hepatitis

description: Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice.


Intestinal lymphedema

description: Fluid retention and edema in the intestine caused by a compromised lymphatic system.


Hypoplasia of the small intestine

description: Underdevelopment of the small intestine.


Rectoperineal fistula

description: The presence of a fistula between the perineum and the rectum.


Malrotation of small bowel

description: A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel.


Hamartomatous stomach polyps

description: Polyp-like protrusions which are histologically hamartomas located in the stomach.


Multiple small bowel atresias

description: The presence of multiple areas of atresia affecting the small intestine.


Episodic hemolytic anemia

description: A form of hemolytic anemia that occurs in repeated episodes.


B Acute Lymphoblastic Leukemia

description: A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood.


Post-transfusion thrombocytopenia

description: Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages.


Fava bean-induced hemolytic anemia

description: A kind of hemolytic anemia that is induced by the ingestion of fava beans.


Drug-sensitive hemolytic anemia

description: A form of hemolytic anemia that is triggered by ingestion of certain drugs.


Normocytic hypoplastic anemia

description: A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits).


Hypersegmentation of neutrophil nuclei

description: An excessive division of the lobes of the nucleus of a neutrophil.


Anisopoikilocytosis

description: A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes.


Increased hemoglobin oxygen affinity

description: An abnormal increase in the binding affinity of hemoglobin for oxygen.


description: A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia.


Recurrent thromboembolism

description: Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream.


Microspherocytosis

description: The presence of erythrocytes that are sphere-shaped and reduced in size.


Coombs-positive hemolytic anemia

description: A type of hemolytic anemia in which the Coombs test is positive.


Prolonged bleeding after surgery

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


name: Ph-positive acute lymphoblastic leukemia

description: A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity.


Recurrent deep vein thrombosis

description: Repeated episodes of the formation of a blot clot in a deep vein.


Reduced leukocyte alkaline phosphatase

description: Decreased alkaline phosphatase measured within leukocytes.


Intermittent thrombocytopenia

description: Reduced platelet count that occurs sporadically, i.e., it comes and goes.


Normochromic microcytic anemia

description: A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.


Hyperchromic macrocytic anemia

description: A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of hemoglobin.


Amegakaryocytic thrombocytopenia

description: Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes.


description: A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine.


Refractory sideroblastic anemia

description: A type of sideroblastic anemia that is not responsive to treatment.


name: Impaired ADP-induced platelet aggregation

description: Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP.


Chronic hemolytic anemia

description: An chronic form of hemolytic anemia.


Perineal fistula

description: The presence of a fistula between the bowel and the perineum.


Incisional hernia

description: An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound.


Spontaneous neonatal pneumothorax

description: Pneumothorax occurring neonatally without traumatic injury to the chest or lung.


Intercostal muscle weakness

description: Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall.


Intermittent hyperventilation

description: Episodic hyperventilation.


Respiratory infections in early life

description: Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections.


name: Respiratory failure requiring assisted ventilation

description: A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation.


name: Intermittent episodes of respiratory insufficiency due to muscle weakness


Elevated pulmonary artery pressure

description: An abnormally elevated blood pressure in the circulation of the pulmonary artery.


Recurrent infections due to aspiration

description: Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration.


description: A form of lactic acidemia that occurs in relation to stress or infection.


Persistent lactic acidosis

description: A continuous form of lactic acidemia.


Severe lactic acidosis

description: A severe form of lactic acidemia.


Exercise-induced lactic acidemia

description: A form of lactic acidemia that occurs following exercise or exertion.


Congenital lactic acidosis

description: A form of lactic acidemia with congenital onset.


name: Hypokalemic hypochloremic metabolic alkalosis


name: Bicarbonate-wasting renal tubular acidosis


Episodic metabolic acidosis

description: Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids.


Intermittent lactic acidemia

description: An intermittent (discontinuous) form of lactic acidemia.


Recurrent infantile hypoglycemia

description: Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period.


Impairment of galactose metabolism

description: An impairment of galactose metabolism.


Hyperchloremic metabolic acidosis

description: A form of metabolic acidosis with increased serum chloride levels.


Abnormal magnesium concentration

description: An abnormality of magnesium ion homeostasis.


Abnormal oral glucose tolerance

description: An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose.


Chronic lactic acidosis

description: A chronic form of lactic acidemia.


name: Orthostatic hypotension due to autonomic dysfunction


Pulmonary artery dilatation

description: An abnormal widening of the diameter of the pulmonary artery.


name: Abnormality of the pulmonary vasculature


name: Arteriosclerosis of small cerebral arteries

description: Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain.


Ascending aortic dissection

description: A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.


Vascular calcification

description: Abnormal calcification of the vasculature.


Pulmonary artery atresia

description: A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.


Pulmonary artery aneurysm

description: An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery.


Tortuous cerebral arteries

description: Excessive bending, twisting, and winding of a cerebral artery.


Generalized arterial calcification

description: Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body.


Extrahepatic portal hypertension

description: Increased pressure in the pre-hepatic portal vein.


Accelerated atherosclerosis

description: Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors.


name: Extracranial internal carotid artery dissection

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


Vascular tortuosity

description: Abnormal twisting of arteries or veins.


Pulmonary arteriovenous fistulas

description: A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed.


Generalized arterial tortuosity

description: Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries.


Descending thoracic aorta aneurysm

description: An abnormal localized widening (dilatation) of the descending thoracic aorta.


Pulmonary artery sling

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


Thoracic aorta calcification

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


Calcification of the aorta

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


Pulmonary arterial medial hypertrophy

description: Increase in mass of the tunica media of the arteries in the pulmonary circulation.


Medial calcification of large arteries

description: Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries.


Recurrent cerebral hemorrhage

description: Recurrent bleeding into the parenchyma of the brain.


Peripheral pulmonary artery stenosis

description: Stenosis of a peripheral branch of the pulmonary artery.


Ascending tubular aorta aneurysm

description: An abnormal localized widening (dilatation) of the tubular part of the ascending aorta.


Elevated mean arterial pressure

description: An abnormal increase in the average blood pressure in an individual during a single cardiac cycle.


Coarctation of abdominal aorta

description: Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta.


name: Erlenmeyer flask deformity of the femurs

description: Flaring of distal femur.


Bilateral radial aplasia

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


Metaphyseal sclerosis

description: Abnormally increased density of metaphyseal bone.


Metaphyseal rarefaction

description: Reduction in density of metaphyseal bony tissue.


Mesomelic leg shortening

description: Shortening of the middle parts of the leg in relation to the upper and terminal segments.


Rhizomelic arm shortening

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


name: Slender long bones with narrow diaphyses

description: Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones.


name: Multicentric ossification of proximal humeral epiphyses


Recurrent patellar dislocation

description: Patellar dislocation occurring repeated times.


name: Aplasia/Hypoplasia of the capital femoral epiphysis

description: Absence or underdevelopment of the proximal epiphysis of the femur.


Flattened proximal radial epiphyses

description: An abnormally flat form of the proximal epiphysis of the radius.


name: Femoral bowing present at birth, straightening with time

description: Congenital onset bending or abnormal curvature of the femur that normalizes with age.


Dumbbell-shaped humerus

description: The humerus is shortened and displays flaring (widening) of the metaphyses.


name: Osteomyelitis leading to amputation due to slow healing fractures


Mesomelic arm shortening

description: Shortening of the middle parts of the arm in relation to the upper and terminal segments.


Dysplastic distal radial epiphyses

description: Abnormally developed (dysplastic) distal epiphysis of the radius.


Diaphyseal undertubulation

description: Tubulation refers to the size and shape of tubular bones. In children and adolescents, the modeling process regulates normal bone growth. Final shaft (tube) diameter depends on appositional bone growth and the equilibrium between periosteal and endosteal bone resorption and formation. Undertubulation refers to a broad, widened form of the shafts (diaphyses) of long bones.


Hypoplastic distal humeri

description: Underdevelopment of the distal portion of the humerus.


Distal ulnar hypoplasia

description: Underdevelopment of the distal portion of the ulna.


Shortening of all phalanges of the toes

description: Developmental hypoplasia (shortening) of all phalanges of the foot.


Unilateral ulnar hypoplasia

description: Underdevelopment of the ulna on only one side.


Proximal radio-ulnar synostosis

description: An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna.


Multiple long-bone exostoses

description: Multiple exostoses originating in long bones.


Irregular capital femoral epiphysis

description: Irregular surface of the normally relatively smooth capital femoral epiphysis.


name: Proximal humeral metaphyseal irregularity

description: Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder).


Diaphyseal cortical sclerosis

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


Anterolateral radial head dislocation

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


Metaphyseal spurs

description: Bony outgrowths that extend laterally from the margin of the metaphysis.


name: Cone-shaped epiphyses fused within their metaphyses


Proximal fibular overgrowth

description: Overgrowth of the proximal part of the fibula.


Proximal radial head dislocation

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


Wrist hypermobility

description: The ability of the wrist joints to move beyond their normal range of motion.


Anterior radial head dislocation

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


Limited knee flexion/extension

description: A limited ability of the knee joint to perform extension and flexion.


Abnormal metaphyseal trabeculation

description: An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone.


Lateral femoral bowing

description: A lateral bending or abnormal curvature of the femur.


Streaky metaphyseal sclerosis

description: The presence of streaks (bands) of abnormally increased density of metaphyseal bone.


Absent proximal radial epiphyses

description: Absence of the proximal radial epiphysis.


Distal femoral bowing

description: A bending or abnormal curvature of the distal portion of the femur.


name: Premature birth following premature rupture of fetal membranes


High-frequency hearing impairment

description: A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz).


Cochlear degeneration

description: Deterioration or loss of the tissues of the cochlea.


name: Calcification of the auricular cartilage

description: Ossification affecting the external ear cartilage.


Hypoplastic nasal septum

description: Underdevelopment of the nasal septum.


Abnormality of the vertebral endplates

description: Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral disks.


Abnormal sacrum morphology

description: An abnormality of the sacral bone.


Abnormal intervertebral disk morphology

description: Any structural abnormality of the intervertebral disk.


Abnormality of the Achilles tendon

description: An abnormality of the Achilles tendon.


Aortic arch aneurysm

description: An abnormal localized widening (dilatation) of the aortic arch.


Supraventricular arrhythmia

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


Arterial tortuosity

description: Abnormal tortuous (i.e., twisted) form of arteries.


Elevated diastolic blood pressure

description: Abnormal increase in diastolic blood pressure.


Abnormal cardiac atrium morphology

description: Any structural abnormality of a cardiac atrium.


name: Posterior scalloping of vertebral bodies

description: An excessive concavity of the posterior surface of one or more vertebral bodies.


name: Congenital hypertrophy of left ventricle


Pericardial constriction

description: Compression of the heart caused by rigid, thickened, or fused pericardial membranes.


Right ventricular dilatation

description: Enlargement of the chamber of the right ventricle.


Abnormal T-wave

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


Mitral annular calcification

description: Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus.


name: Anomalous origin of right pulmonary artery from ascending aorta

description: The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery.


Ventricular septal hypertrophy

description: The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle.


Cardiac valve calcification

description: Abnormal calcification of a cardiac valve.


Pulmonary valve defects

description: Any defect in the valve connecting the heart and the pulmonary artery.


Abnormal atrioventricular conduction

description: An impairment of the electrical continuity between the atria and ventricles.


Preductal coarctation of the aorta

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


Ventricular escape rhythm

description: A ventricular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms).


Hypoplastic left atrium

description: Underdeveloped, small left heart atrium


Concentric hypertrophic cardiomyopathy

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


Abnormal left ventricular function

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


Dysplastic pulmonary valve

description: A congenital malformation of the pulmonary valve characterized by leaflet deformation.


Shortened PR interval

description: Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long.


Elevated right atrial pressure

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


name: Complete heart block with broad QRS complexes

description: A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex.


Left posterior fascicular block

description: Conduction block in the posterior division of the left bundle branch of the bundle of His.


Membranous subvalvular aortic stenosis

description: Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency.


Dysplastic aortic valve

description: A congenital malformation of the aortic valve characterized by leaflet deformation.


Premature arteriosclerosis

description: Arteriosclerosis occurring at an age that is younger than usual.


name: Complete heart block with narrow QRS complexes

description: A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex.


name: Premature coronary artery atherosclerosis

description: Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45.


Bicuspid pulmonary valve

description: The presence of a bicuspid pulmonary valve.


Pericardial lymphangiectasia

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


Prolonged QTc interval

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


Global systolic dysfunction

description: A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly.


Synovial lining hyperplasia

description: Synovial hyperplasia involves proliferation of mesenchymal stromal/stem cells and leads to synovial thickening, which can be observed radiographically.


name: Proximal finger joint hyperextensibility


Flattened metatarsal heads

description: Abnormally flat shape of the heads of the metatarsal bones.


Generalized morning stiffness

description: A sensation of stiffness in the joints that occurs following waking up in the morning.


Stiff interphalangeal joints

description: Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity.


name: Aplasia of the abdominal wall musculature

description: Absence of the abdominal musculature.


Helicobacter pylori infection

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


Pancreatic pseudocyst

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


Gastric hypertrophy

description: Hypertrophy of the stomach.


Intrahepatic bile duct cysts

description: The presence of cyst of the intrahepatic bile duct.


Hypoplastic colon

description: Underdevelopment of the colon.


Anal mucosal leukoplakia

description: Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation.


Pancreatic calcification

description: The presence of abnormal calcium deposition lesions in the pancreas.


Frequent Giardia lamblia infestation

description: Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection.


Impaired mastication

description: An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing.


Anoperineal fistula

description: The presence of a fistula (abnormal tunnel) between the anal canal and the perineum.


Absence of intrinsic factor

description: Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12.


Bowel diverticulosis

description: The presence of multiple diverticula of the intestine.


Rectal abscess

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


Intestinal edema

description: Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds.


Adenomatous colonic polyposis

description: Presence of multiple adenomatous polyps in the colon.


Biliary tract obstruction

description: Obstruction affecting the biliary tree.


Pancreatic dysplasia

description: The presence of developmental dysplasia of the pancreas.


Hypoplasia of the gallbladder

description: The presence of a hypoplastic gallbladder.


Chronic calcifying pancreatitis

description: A form of chronic pancreatitis that is characterized by calcification.


Degenerative liver disease

description: The presence of degenerative changes of the liver.


Esophageal obstruction

description: Blockage of the normal flow of the contents in the esophagus.


Partial abdominal muscle agenesis

description: Failure to form of portions of the abdominal musculature.


Intestinal hypoplasia

description: Developmental hypoplasia of the intestine.


name: Hypoplasia of the abdominal wall musculature

description: Underdevelopment of the abdominal musculature.


Intrahepatic biliary atresia

description: Atresia in the intrahepatic bile duct.


Functional intestinal obstruction

description: The blockage of bowel contents from evacuation; the causes are attributable to non-structural impediments, such as chemical imbalances or the side effects of medications, narcotics in particular.


name: Increased anterioposterior diameter of thorax


Absence of pectoralis minor muscle

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


name: Unilateral absence of pectoralis major muscle

description: Aplasia (congenital absence) of the pectoralis minor on only one side of the chest.


name: Abnormal facility in opposing the shoulders

description: Increased range of shoulder movement related to aplasia or hypoplasia of the clavicles that results in the ability to approximate the shoulders in front of the chest.


Abnormal synovial membrane morphology

description: Any structural anomaly of the synovium, which is a membrane that lines the cavity of synovial joints and consists of a lining layer of macrophage-like synoviocytes and fibroblast-like synoviocytes, as well as a sublining of connective tissue. Synovial cells are thought to contribute to joint homeostasis by secreting various factors such as hyaluronic acid and lubricin important for joint lubrication and function, as well as disposing of the waste products.


Abnormality of the gallbladder

description: An abnormality of the gallbladder.


Abnormal jejunum morphology

description: An abnormality of the jejunum, i.e., of the middle section of the small intestine.


name: Premature delivery because of cervical insufficiency or membrane fragility


Prominent nasolabial fold

description: Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure).


Absent nasal septal cartilage

description: Lack of the cartilage of the nasal septum.


Depressed nasal bridge

description: Posterior positioning of the nasal root in relation to the overall facial profile for age.


Abnormal nostril morphology

description: Abnormality of the nostril.


name: Intimal thickening in the coronary arteries


Arterial dissection

description: A separation (dissection) of the layers of an artery.


Pseudocoarctation of the aorta

description: Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum.


Premature occlusive vascular stenosis

description: Peripheral arterial stenosis with onset before the age of 50 years.


Persistent left superior vena cava

description: A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress.


Carotid artery tortuosity

description: Abnormal tortuous (i.e., twisted) form of the carotid arteries.


Aortic arch calcification

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


Cerebral venous thrombosis

description: Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow.


name: Postural hypotension with compensatory tachycardia


Large vessel vasculitis

description: A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta.


Agenesis of pulmonary vessels

description: A developmental defect characterized by the lack of formation of the pulmonary blood vessels.


Pulmonary aterial intimal fibrosis

description: Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation.


name: Anomalous branches of internal carotid artery


Increased pulmonary vascular resistance

description: Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units.


Disturbance of facial expression

description: An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed.


name: Extension of hair growth on temples to lateral eyebrow

description: A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows.


Hypoplastic philtrum

description: Underdevelopment of the philtrum.


Progeroid facial appearance

description: 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.


Recurrent mandibular subluxations

description: Recurrent partial dislocations of the mandible.


Sparse lateral eyebrow

description: Decreased density/number and/or decreased diameter of lateral eyebrow hairs.


Abnormality of complement system

description: An abnormality of the complement system.


Autonomic bladder dysfunction

description: Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system.


Hypoplasia of the bladder

description: Underdevelopment of the urinary bladder.


Abnormal carotid artery morphology

description: Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches.


Abnormal vena cava morphology

description: An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava.


Tracheal cartilaginous sleeve

description: Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation in which distinct tracheal rings are replaced by a continuous cartilaginous segment. Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis to the carina or bronchus with little to no pars membranacea posteriorly. Comment:Tracheal cartilaginous sleeve has been associated with various craniosynostosis syndromes.


Inspiratory stridor

description: Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities.


Hypoplasia of the epiglottis

description: Hypoplasia of the epiglottis.


Severe T-cell immunodeficiency

description: A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms.


Recurrent herpes

description: Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus.


Lack of T cell function

description: Complete inability of T cells to perform their functions in cell-mediated immunity.


name: Decreased circulating complement factor I concentration

description: Concentration of the complement component factor I in the blood circulation below the lower limit of normal.


Defective B cell differentiation

description: 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.


Susceptibility to chickenpox

description: Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox.


Humoral immunodeficiency

description: A general term referring to a defect in immunity resulting from impaired antibody production.


Severe B lymphocytopenia

description: A severe form of B lymphocytopenia in which the count of B cells is very low or absent.


name: Recurrent streptococcus pneumoniae infections

description: Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae.


Abnormality of humoral immunity

description: An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system.


name: Decreased circulating complement factor H concentration

description: Concentration of the complement component factor H in the blood circulation below the lower limit of normal.


Abnormality of B cell physiology

description: An abnormality of the physiological functioning of B cells.


Cellular immunodeficiency

description: An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity.


name: Recurrent Haemophilus influenzae infections

description: Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae.


Recurrent meningococcal disease

description: Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus.


Defective B cell activation

description: A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of


Recurrent protozoan infections

description: Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection.


name: Depletion of components of the alternative complement pathway

description: An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products.


Recurrent opportunistic infections

description: Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system.


Susceptibility to coronavirus 229e

description: Increased susceptibility to coronavirus 229e, as manifested by recurrent episodes of coronavirus 229e.


Reduction of neutrophil motility

description: An abnormal reduction of the cell motility of neutrophils.


Recurrent candida infections

description: An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections.


T lymphocytopenia

description: An abnormally low count of T cells.


Increased B cell count

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


Recurrent bacterial skin infections

description: Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.


name: Decreased proportion of CD4-positive helper T cells

description: A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count.


Chronic intestinal candidiasis

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


Increased alpha-globulin

description: An abnormally increased level of circulating alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant.


name: Decreased proportion of CD8-positive T cells

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


name: Decreased circulating complement factor B concentration

description: Concentration of the complement component factor B in the blood circulation below the lower limit of normal.


Decreased T cell activation

description: Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.


name: Recurrent gram-negative bacterial infections

description: Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents.


name: Decreased circulating complement C3 concentration

description: Concentration of the complement component C3 in the blood circulation below the lower limit of normal.


Absence of CD8-positive T cells

description: Lack of detectible CD8-positive T cells


name: Dysfunctional alternative complement pathway

description: An abnormality of the functioning of any aspect of the alternative complement pathway.


Absent specific antibody response

description: Absence of specific immunoglobulins directed against a specific antigen or microorganism.


Recurrent sinopulmonary infections

description: An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.


Recurrent systemic pyogenic infections

description: Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections.


Recurrent Neisserial infections

description: Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis).


Impaired T cell function

description: Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.


name: Recurrent infections in infancy and early childhood

description: Recurrent infections at an early age with improvement in later childhood.


Maxillozygomatic hypoplasia

description: Hypoplasia of the maxillozygomatic complex.


Sclerotic cranial sutures

description: An increased density in the cranial sutures following obliteration.


Widely patent coronal suture

description: The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed.


Enlarged posterior fossa

description: Abnormal increased size of the posterior cranial fossa.


Obtuse angle of mandible

description: Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal.


Calvarial osteosclerosis

description: An increase in bone density affecting the calvaria (roof of the skull).


Absent/hypoplastic paranasal sinuses

description: Aplasia or hypoplasia of the paranasal sinuses.


Absent ethmoidal sinuses

description: Lack (aplasia) of the ethmoidal sinus.


Premature closure of fontanelles

description: Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point.


Calcification of falx cerebri

description: The presence of calcium deposition in the falx cerebri.


Craniofacial osteosclerosis

description: Abnormally increased density of craniofacial bone tissue.


Facial hyperostosis

description: Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton.


Hypoplasia of the frontal bone

description: Underdevelopment of the frontal bone.


Flat occiput

description: Reduced convexity of the occiput (posterior part of skull).


Fusion of middle ear ossicles

description: Bony fusion of malleus, incus, and stapes.


Decreased calvarial ossification

description: Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone).


Widely patent sagittal suture

description: The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed.


Progressive sclerosis of skull base

description: Progressively increasing bone density of the skull base without significant changes in bony contour.


Decreased circulating IgE

description: An abnormally decreased level of immunoglobulin E (IgE) in blood.


name: Abnormality of the alternative complement pathway

description: A deviation in any aspect of the alternative complement pathway.


Abnormal epiglottis morphology

description: An abnormality of the epiglottis.


Secondary microcephaly

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


Small fontanelle

description: A fontanelle that is small for age.


Prominent metopic ridge

description: Vertical bony ridge positioned in the midline of the forehead.


Postnatal macrocephaly

description: The postnatal development of an abnormally large skull (macrocephaly).


Metopic suture patent to nasal root

description: The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root.


name: Midline skin dimples over anterior/posterior fontanelles


Hemoglobin Barts

description: Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues.


Transient erythroblastopenia

description: A transient reduction in the number of erythroblasts in the circulation.


name: Impaired neutrophil killing of staphylococci

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


Increased megakaryocyte count

description: Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow.


T-cell lymphoma/leukemia

description: A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas.


Increased mean corpuscular volume

description: Larger than normal size of erythrocytes.


name: Chronic disseminated intravascular coagulation

description: A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced.


Bone marrow hypocellularity

description: A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.


Exercise-induced hemolysis

description: A form of hemolytic anemia that can be triggered by exertion.


Decreased mean platelet volume

description: Average platelet volume below the lower limit of the normal reference interval.


name: T cell chronic lymphocytic lymphoma/leukemia

description: A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent.


Red blood cell keratocytosis

description: A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns.


Prolonged whole-blood clotting time

description: An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot.


Megakaryocytopenia

description: A reduced count of megakaryocytes.


Abnormality of the metopic suture

description: The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a "metopic suture".


Abnormal zygomatic arch morphology

description: An abnormality of the zygomatic arch, also known as the cheek bone.


name: Abnormality of the kinin-kallikrein system


Imbalanced hemoglobin synthesis

description: Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia.


Multiple renal cysts

description: The presence of many cysts in the kidney.


Decreased numbers of nephrons

description: A reduction in the count of nephrons per kidney.


name: Absence of renal corticomedullary differentiation

description: A lack of differentiation between renal cortex and medulla on diagnostic imaging.


name: Reduced renal corticomedullary differentiation

description: Reduced differentiation between renal cortex and medulla on diagnostic imaging.


name: Increased renal tubular phosphate reabsorption


name: Decreased renal tubular phosphate excretion


Non-acidotic proximal tubulopathy

description: A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss.


Tubulointerstitial fibrosis

description: A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy.


name: Impaired renal tubular reabsorption of chloride

description: Any impairment of reabsorption of chloride by the kidney.


Duplication of renal pelvis

description: A duplication of the renal pelvis.


name: Tubular basement membrane disintegration

description: DIsruption and breaking up of the basement membrane of the tubules of the kidney.


Patchy palmoplantar hyperkeratosis

description: A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected.


Giant melanosomes in melanocytes

description: The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes.


name: Macular hypopigmented whorls, streaks, and patches


Congenital alopecia totalis

description: Loss of all scalp hair with congenital onset.


name: Facial telangiectasia in butterfly midface distribution

description: Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution.


name: Large cafe-au-lait macules with irregular margins

description: Large hypermelanotic macules with jagged borders.


Bilobate gallbladder

description: The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium.


Aplasia/hypoplasia of the femur

description: Absence or underdevelopment of the femur.


Accelerated skeletal maturation

description: An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.


Thoracolumbar kyphosis

description: Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance.


Hypermobility of interphalangeal joints

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


Trapezoidal vertebral body

description: An anomalous trapezoidal appearance of a vertebral body. A trapezoid is a four-sided shape that has two sides that are parallel and two sides that are not parallel. In this case, the two lateral sides of the vertebra are parallel, and the top and the bottom are slanted with respect to each other such that the vertebra is shorter in the fron or back than on the other side.


Broad long bones

description: Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately.


Absent ossification of calvaria

description: Acalvaria is an extremely rare congenital malformation characterized by an absence of flat bones of skull, dura mater, and associated muscles in the presence of normal cranial contents and facial bones.


Osteoporosis of vertebrae

description: Osteoporosis affecting predominantly the vertebrae.


name: Posterior fusion of lumbosacral vertebrae

description: Bony fusion of the posterior part of the L5 vertebral body with the sacrum.


name: Decreased anterioposterior diameter of lumbar vertebral bodies


Hyperextensible hand joints

description: The ability of the joints of the hand to move beyond their normal range of motion.


name: Abnormal vertebral segmentation and fusion


Short 3rd toe

description: Underdevelopment (hypoplasia) of the third toe.


Intervertebral disk calcification

description: The presence of abnormal calcium deposition of the intervertebral disk.


Bilateral ulnar hypoplasia

description: Underdevelopment of the ulna on both sides.


2-5 finger cutaneous syndactyly

description: A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints.


Cortical sclerosis

description: Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity.


Moderate generalized osteoporosis

description: Moderate osteoporosis.


Multiple digital exostoses

description: Multiple exostoses originating in the fingers and toes.


Positional foot deformity

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


Salmonella osteomyelitis

description: Osteomyelitis caused by infection with the bacteria, salmonella.


Massively thickened long bone cortices

description: Extreme thickening of the cortex of long bones.


Os odontoideum

description: Separation of the odontoid process from the body of the axis.


Bilateral intracerebral calcifications

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


name: Rudimentary postaxial polydactyly of hands


name: Tongue-like lumbar vertebral deformities

description: A tongue-like protusion from the anterior aspect of lumbar vertebral bodies.


Patchy osteosclerosis

description: Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.


name: Dysplastic distal thumb phalanges with a central hole


name: Partial fusion of proximal row of carpal bones


name: Increased bone density with cystic changes


Bilateral triphalangeal thumbs

description: A bilateral form of triphalangeal thumb.


Shortening of all metacarpals

description: Abnormal reduction in length of all metacarpal bones.


Hyperextensible thumb

description: The ability of the thumb joints to move beyond their normal range of motion.


Cortical irregularity

description: An abnormal irregularity of cortical bone.


name: Spinal stenosis with reduced interpedicular distance

description: An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging).


Short tibia

description: Underdevelopment (reduced size) of the tibia.


Posterior subluxation of radial head

description: Partial dislocation of the head of the radius in the posterior direction.


Osteosclerosis of the base of the skull

description: An increase in bone density affecting the basicranium (base of the skull).


name: Easily subluxated first metacarpophalangeal joints


Lower-limb joint contracture

description: A limitation in the passive range of motion of a joint of the lower limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.


Neonatal epiphyseal stippling

description: The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period.


Basilar impression

description: Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum.


Small flat posterior fossa

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


Sacral meningocele

description: A congenital abnormality in the sacral region of the spine, in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface.


name: Disproportionate shortening of the tibia


2-4 toe cutaneous syndactyly

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


name: Fifth finger distal phalanx clinodactyly

description: Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger).


Aplasia/Hypoplasia of the tibia

description: Absence or underdevelopment of the tibia.


Short forearm

description: Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm.


name: Absent fourth finger distal interphalangeal crease

description: Absence of the distal interphalangeal flexion creases of the fourth finger.


Lumbar platyspondyly

description: A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the lumbar spine.


Generalized osteosclerosis

description: An abnormal increase of bone mineral density with generalized involvement of the skeleton.


name: Cortical thickening of long bone diaphyses

description: Abnormal thickening of the cortex of the diaphyseal region of long bones.


Short humerus

description: Underdevelopment of the humerus.


name: Shortening of all distal phalanges of the toes

description: Abnormally short distal phalanx of toe of all toes.


Absent distal phalanges

description: Aplasia (absence) of the distal phalanges.


Supernumerary ribs

description: The presence of more than 12 rib pairs.


Postaxial polysyndactyly of foot

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


Short middle phalanx of finger

description: Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.


Clinodactyly of the 2nd toe

description: Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe).


Flexion contracture of toe

description: One or more bent (flexed) toe joints that cannot be straightened actively or passively.


Dysharmonic delayed bone age

description: A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones.


name: Calcific stippling of infantile cartilaginous skeleton


Rounded middle phalanx of finger

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


Diffuse cerebral calcification

description: Generalized deposition of calcium salts within the cerebrum.


Multiple prenatal fractures

description: The presence of bone fractures in the prenatal period that are diagnosed at birth or before.


Ulnar radial head dislocation

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


Pseudoarthrosis

description: A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or "false joint").


Opposable triphalangeal thumb

description: A form of triphalangeal thumb that can be placed opposite the fingers of the same hand.


Metaphyseal enchondromatosis

description: An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins.


Brachytelomesophalangy

description: Disproportionately short middle and distal phalanges compared to the hand/foot.


Polysyndactyly of hallux

description: Combined syndactyly and polydactyly of the great toe.


Progressive flexion contractures

description: Progressively worsening joint contractures.


name: Enlarged sagittal diameter of the cervical canal


Congenital finger flexion contractures

description: Multiple bent (flexed) finger joints that cannot be straightened actively or passively.


Metacarpophalangeal synostosis

description: Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint.


name: Absent ossification of cervical vertebral bodies

description: A lack of bone mineralization of one or more body of cervical vertebra.


Aphalangy of the hands

description: Absence of a digit or of one or more phalanges of a finger.


Progressive forearm bowing

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


Proximal tibial and fibular fusion

description: A developmental defect characterized by the abnormal fusion of the proximal tibia and fibula.


Double first metacarpals

description: Duplication of the metacarpal I bones.


name: Radial deviation of thumb terminal phalanx


Severe generalized osteoporosis

description: Severe degree of osteoporosis.


Fifth metacarpal with ulnar notch

description: Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger).


Abnormal cervical curvature

description: The presence of an abnormal curvature of the cervical vertebral column.


name: Delayed pneumatization of the mastoid process

description: An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms.


name: Rhomboid or triangular shaped 5th finger middle phalanx

description: Rhomboid or triangular shaped 5th (little) finger middle phalanx.


name: Abnormal metacarpal epiphysis morphology


name: Aplasia/Hypoplasia involving the metacarpal bones

description: Aplasia or Hypoplasia affecting the metacarpal bones.


Abnormal metacarpal morphology

description: Any abnormal shape or structure of the metacarpal bones.


Supernumerary metacarpal bones

description: The presence of more than the normal number of metacarpal bones.


Abnormal finger phalanx morphology

description: Abnormalities affecting the phalanx of finger.


name: Abnormal epiphysis morphology of the phalanges of the hand

description: Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes 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).


Abnormal hand morphology

description: Any structural anomaly of the hand.


Abnormal hand epiphysis morphology

description: Any abnormality of the epiphyses of the phalanges or metacarpal bones.


Abnormal hand cortical bone morphology

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


name: Aplasia/hypoplasia involving bones of the hand

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


Abnormal epiphysis morphology

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


name: Abnormal renal corticomedullary differentiation

description: An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla.


name: Abnormal respiratory motile cilium morphology

description: Abnormal arrangement of the structures of the motile cilium.


Respiratory arrest

description: Cessation of breathing function.


Bilateral lung agenesis

description: Bilateral lack of development of the lungs.


Laryngeal obstruction

description: Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress.


name: Ventilator dependence with inability to wean


Decreased sensitivity to hypoxemia

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


Apneic episodes in infancy

description: Recurrent episodes of apnea occurring during infancy.


Anteroposteriorly shortened larynx

description: Abnormal shortening of the larynx in the anteroposterior (front to back) axis.


Impaired gluconeogenesis

description: An impairment of gluconeogenesis.


Hypoargininemia

description: A decreased concentration of arginine in the blood.


Intermittent hypothermia

description: Episodes of reduced body termperature.


name: Mixed respiratory and metabolic acidosis


Temperature instability

description: Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature.


Respiratory acidosis

description: Acidosis because of respiratory retention of carbon dioxide.


Episodic ketoacidosis

description: Intermittent episodes of ketoacidosis.


Metabolic ketoacidosis

description: A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake.


Limitation of neck motion

description: Limited mobility of the neck, usually accompanied by pain.


Redundant neck skin

description: Excess skin around the neck, often lying in horizontal folds.


Limited neck flexion

description: Reduced abilty to lower the chin towards the chest by bending the neck.


Decreased adipose tissue around neck

description: Reduced amount of adipose tissue in the region of the neck.


Ureteral atresia

description: A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter.


Broad phalanx

description: Increased side-to-side width of one or more phalanges of the fingers or toes.


Cuboidal metacarpal

description: Severely shortened metacarpal with a cuboidal appearance.


name: Delayed phalangeal epiphyseal ossification

description: Delay in the process of formation and maturation of the epiphysis of one or more phalanx.


name: Reduced proximal interphalangeal joint space


Metaphyseal cupping of metacarpals

description: Metaphyseal cupping affecting the metacarpal bones.


name: Cone-shaped epiphyses of phalanges 2 to 5


Y-shaped metacarpals

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


Distal widening of metacarpals

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


Cone-shaped metacarpal epiphyses

description: A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones.


Multiple carpal ossification centers

description: A delay in the process of formation and maturation of the epiphysis of one or more long bones.


Metacarpophalangeal joint contracture

description: A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.


Absent proximal finger flexion creases

description: Absence of the proximal interphalangeal flexion creases of the fingers.


name: 1-5 finger complete cutaneous syndactyly


Malaligned carpal bone

description: Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna).


3-4 finger syndactyly

description: Syndactyly with fusion of fingers three and four.


description: Increased mobility of one ore more metacarpophalangeal joint.


Finger syndactyly

description: Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism".


Fingerpad telangiectases

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


Tapered metacarpals

description: Metacarpal that becomes thinner toward the distal end.


Absent phalangeal crease

description: Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers).


name: Shortening of all middle phalanges of the fingers

description: Short, hypoplastic middle phalanx of finger, affecting all fingers.


name: Expanded phalanges with widened medullary cavities


Multiple palmar creases

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


name: Shortening of all distal phalanges of the fingers

description: Hypoplasia of all of the distal phalanx of finger.


Proximal tapering of metacarpals

description: Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance.


Acral ulceration

description: A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe.


Long proximal phalanx of finger

description: Increased length of the proximal phalanx of finger.


Drumstick terminal phalanges

description: Rounding and broadening of the tufts of the distal phalanges.


Enlarged metacarpal epiphyses

description: Abnormally large size of one or more growth plates (epiphyses) of the metacarpal bones (i.e., the tubular bones of the hand between the carpus and the phalanges).


name: Premature fusion of phalangeal epiphyses

description: Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth.


Abnormal finger flexion crease

description: Anomalous flexion crease (i.e., a transverse line that crosses the skin of a finger).


name: Shortening of all proximal phalanges of the fingers

description: Congenital hypoplasia of proximal phalanx of finger or all fingers.


Central Y-shaped metacarpal

description: A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal.


Broad metacarpal epiphyses

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


name: Swan neck-like deformities of the fingers

description: A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke.


Proximal symphalangism of hands

description: The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases.


Long phalanx of finger

description: Increased length of multiple or a single phalanx of finger.


Ulnar deviation of thumb

description: Bending or curvature of a thumb towards the ulnar side (towards the ring finger).


Mesoaxial hand polydactyly

description: The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly.


Irregular metacarpals

description: Irregular morphology of one or more metacarpal bones.


name: Short metacarpals with rounded proximal ends


name: Soft tissue swelling of interphalangeal joints


name: Prominent proximal interphalangeal joints


Chess-pawn distal phalanges

description: A morphological abnormality of distal phalanges such that they have the appearance of chess pawns.


name: Flattened, squared-off epiphyses of tubular bones


name: Metacarpal diaphyseal endosteal sclerosis

description: Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone.


name: Proximal phalangeal periosteal thickening


name: Two carpal ossification centers present at birth


Decreased palmar creases

description: Poorly defined or shallow palmar creases.


name: Enlarged proximal interphalangeal joints


Deep palmar crease

description: Excessively deep creases of the palm.


Tapered phalanx of finger

description: Phalanges of the fingers becoming thinner toward the distal end.


Thimble-shaped middle phalanges of hand

description: The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat.


name: Hypermobility of distal interphalangeal joints


name: Decreased movement range in interphalangeal joints


Irregular phalanges

description: Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance.


name: Hypersegmentation of proximal phalanx of second finger

description: Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger.


name: Metaphyseal cupping of proximal phalanges

description: Metaphyseal cupping affecting the proximal phalanges.


name: Partial-complete absence of 5th phalanges


name: Thin proximal phalanges with broad epiphyses of the hand


name: Single interphalangeal crease of fifth finger

description: Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger.


name: Limited mobility of proximal interphalangeal joint


name: Tapering pointed ends of distal finger phalanges

description: A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms).


name: Osteoarthritis of the first carpometacarpal joint


name: Expanded metacarpals with widened medullary cavities


Osteolysis involving tarsal bones

description: An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones.


Slender metacarpals

description: Decreased width of the metacarpal bones (that is, reduced diameter).


name: Shortening of all middle phalanges of the toes

description: Abnormal shortening of all middle phalanges of toes.


Limited wrist movement

description: An abnormal limitation of the mobility of the wrist.


name: Swelling of proximal interphalangeal joints


name: Elevated circulating alpha-fetoprotein concentration

description: Concentration of alpha-fetoprotein in the blood circulation above the upper limit of normal.


name: Abnormal phalangeal joint morphology of the hand


Aplasia/Hypoplasia of the 5th finger

description: A small/hypoplastic or absent/aplastic 5th finger.


name: Abnormality of the epiphyses of the 2nd finger

description: Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger.


Aplasia/Hypoplasia of the 2nd finger

description: A small/hypoplastic or absent/aplastic 2nd finger.


Aplasia/Hypoplasia of fingers

description: Small/hypoplastic or absent/aplastic fingers.


Small placenta

description: Reduced size of the placenta.


Large placenta

description: Increased size of the placenta.


Fluctuating splenomegaly

description: Intermittently increased size of the spleen.


Hypoplastic spleen

description: Underdevelopment of the spleen.


Pancreatic lymphangiectasis

description: The presence of lymphangiectasis in the pancreas.


Reduced pancreatic beta cells

description: Reduced number of beta cells in the pancreatic islets of Langerhans.


Pancreatic hyperplasia

description: Hyperplasia of the pancreas.


Ectopic pancreatic tissue

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


Generalized hypoplasia of dental enamel

description: A generalized form of developmental hypoplasia of the dental enamel.


Multiple unerupted teeth

description: The presence of multiple embedded tooth germs which have failed to erupt.


Enamel hypomineralization

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


Advanced eruption of teeth

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


Agenesis of central incisor

description: Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor.


Discolored lateral incisors

description: The presence of discolored lateral incisors.


name: Marked delay in eruption of permanent teeth


Abnormality of dental eruption

description: An abnormality of tooth eruption.


Agenesis of maxillary central incisor

description: Agenesis of upper secondary incisor or of upper central primary incisor.


name: Prolonged bleeding after dental extraction

description: Prolonged bleeding post dental extraction sufficient to require medical intervention.


Dagger-shaped pulp calcifications

description: Dagger-shaped calcifications in the dental pulp.


Generalized microdontia

description: A generalized form of microdontia.


Widely spaced primary teeth

description: Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia.


Irregularly spaced teeth

description: Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth.


Premature loss of primary teeth

description: Loss of the primary (also known as deciduous) teeth before the usual age.


name: Buried teeth encased in mucopolysaccharide


Alveolar process hypoplasia

description: Underdevelopment of the alveolar process (also known as alveolar bone).


Supernumerary maxillary incisor

description: The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor.


Crowded maxillary incisors

description: A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor.


Hypoplasia of the primary teeth

description: Developmental hypoplasia of the primary teeth.


Persistence of primary teeth

description: Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth.


Short dental root

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


Premature eruption of permanent teeth

description: Premature tooth eruption of the permanent dentition.


Malformation of mandibular premolar

description: An abnormality of the morphology of secondary premolar tooth.


Conical mandibular incisor

description: An abnormal conical morphology of the primary or permanent mandibular incisors.


Peg-shaped maxillary lateral incisors

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


Abnormal primary molar morphology

description: An abnormality of morphology of primary molar.


Screwdriver-shaped incisors

description: An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape.


Microdontia of primary teeth

description: Decreased size of the primary teeth.


Agenesis of permanent teeth

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


Pulp obliteration

description: Mineralized substance filling the entire dental pulp space.


Failure of eruption of permanent teeth

description: Lack of tooth eruption of the secondary dentition.


Hypoplasia of the tooth germ

description: Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth.


Premature loss of permanent teeth

description: Premature loss of the permanent teeth.


name: Shovel-shaped maxillary central incisors

description: A tooth with a crown with marked lingual or palatal marginal ridges causing scooped lingual or palatal surfaces.


Crumpled long bones

description: An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta.


Irregular patellae

description: An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour.


Distal ulnar epiphyseal stippling

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna.


Broad long bone diaphyses

description: Increased width of the diaphysis of long bones.


Dumbbell-shaped femur

description: The femur is shortened and displays flaring (widening) of the metaphyses.


Knee flexion contracture

description: 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.


Rudimentary fibula

description: Absent or nearly absent fibula. (Does not include aplastic)


Progressive bowing of long bones

description: Progressive bending or abnormal curvature of a long bone.


Club-shaped distal femur

description: An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis.


Short lower limbs

description: Shortening of the legs related to developmental hypoplasia of the bones of the leg.


Hypoplastic distal radial epiphyses

description: Underdevelopment of the distal epiphysis of the radius.


Wide distal femoral metaphysis

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


Limited knee flexion

description: Reduced ability to flex (bend) the knee joint.


Anterior tibial bowing

description: An abnormal anterior bending or curvature of the tibia.


Overtubulated long bones

description: Overconstriction, or narrowness of the diaphysis and metaphysis of long bones.


Increased density of long bones

description: An abnormal increase in the bone density of the long bones.


Limited pronation/supination of forearm

description: A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation).


Flat distal femoral epiphysis

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


Club-shaped proximal femur

description: An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis.


Irregular distal femoral epiphysis

description: Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular.


Progressive leg bowing

description: Progressive bending or abnormal curvature of the leg.


Distal tibial bowing

description: A bending or abnormal curvature of the distal portion of the tibia.


Cortically dense long tubular bones

description: Increased density of the compact bone of long bone.


Asymmetric radial dysplasia

description: The presence of asymmetric developmental dysplasia of the radius.


name: Peg-like central prominence of distal tibial metaphyses


Elongated radius

description: Increased length of the radius.


Broad femoral neck

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


name: Abnormal proximal femoral metaphysis morphology

description: An anomaly of the metaphysis of the proximal femur (close to the hip).


Radial dysplasia

description: Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia.


Hypoplasia of proximal radius

description: Proximal radial shortening owing to a congenital defect of development.


name: Disproportionate prominence of the femoral medial condyle


name: Enlargement of the distal femoral epiphysis

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


Radioulnar dislocation

description: A dislocation is a separation of the radius and ulna bones where they normally meet. The radioulnar joints are two locations, proximal and distal, in which the radius and ulna articulate in the forearm. Both can dislocate.


name: Increased density of long bone diaphyses


Hypoplasia of proximal fibula

description: Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee.


Patellar aplasia

description: Absence of the patella.


name: Multicentric ossification of proximal femoral epiphyses


name: Lateral displacement of the femoral head

description: A developmental anomaly with lateral displacement of the femoral head.


Delayed patellar ossification

description: Formation of bone in the patella later than normal.


Irregular proximal tibial epiphyses

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


Dorsal subluxation of ulna

description: Partial dislocation of the ulna in the dorsal direction.


Generalized bone demineralization

description: A generalized decrease in bone mineral density.


name: Periosteal thickening of long tubular bones

description: Thickening of the periosteum of long bone.


Limited shoulder movement

description: A limitation of the range of movement of the shoulder joint.


Thin long bone diaphyses

description: Decreased width of the diaphysis of long bones.


Anterior bowing of long bones

description: An abnormal anterior curvature of a long bone.


name: Abnormality of the pancreatic islet cells

description: An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin.


Abnormal alveolar ridge morphology

description: Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth.


Abnormal dental pulp morphology

description: An abnormality of the dental pulp.


Premature loss of teeth

description: Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.


Abnormality of primary teeth

description: Any abnormality of the primary tooth.


Abnormal dental morphology

description: An abnormality of the morphology of the tooth.


Abnormal number of teeth

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


Agenesis of incisor

description: Agenesis of incisor.


Abnormal dental root morphology

description: An abnormality of the dental root.


Bowing of the long bones

description: A bending or abnormal curvature of a long bone.


Bowing of the arm

description: A bending or abnormal curvature affecting a long bone of the arm.


Abnormal femoral metaphysis morphology

description: An anomaly of the femoral metaphysis.


name: Abnormal lower-limb metaphysis morphology


Aplasia/Hypoplasia of the fibula

description: Absence or underdevelopment of the fibula.


name: Aplasia/hypoplasia involving bones of the lower limbs

description: Absence (due to failure to form) or underdevelopment of the bones of the lower limbs.


name: Aplasia/Hypoplasia involving bones of the feet


Aplasia/Hypoplasia of the ulna

description: Absence or underdevelopment of the ulna.


name: Aplasia/hypoplasia involving bones of the upper limbs

description: Absence (due to failure to form) or underdevelopment of the bones of the upper limbs.


Abnormal femoral epiphysis morphology

description: An anomaly of a growth plate of a femur.


name: Abnormal lower limb epiphysis morphology

description: An anomaly of one or more epiphyses of one or both legs.


Aplasia/Hypoplasia of the radius

description: A small/hypoplastic or absent/aplastic radius.


name: Aplasia/Hypoplasia involving the carpal bones

description: Absence or underdevelopment of the carpal bones.


name: Aplasia/hypoplasia involving forearm bones

description: Absence (due to failure to form) or underdevelopment of one or more forearm bones.


Abnormal limb epiphysis morphology

description: An anomaly of one or more epiphyses of a limb.


Aplasia/hypoplasia of the humerus

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


Diverticulosis of trachea

description: Tracheal diverticula are blind-ended outpouchings arising from the trachea. They are usually an incidental finding. Occasionally they can mimic pneumomediastinum. Tracheal diverticula are either congenital or acquired, in the latter case the most common causes are prolonged increased intraluminal pressure, e.g. chronic cough, COPD, tracheomalacia, and iatrogenic (e.g. post-surgical).


Laryngeal stridor

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


Interstitial pneumonitis

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