congenital velopharyngeal incompetence

description: Failure of the soft palate to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (adenoidectomy; cleft palate) or an incompetent palatopharyngeal sphincter. It is characterized by hypernasal speech.


Reduced delayed hypersensitivity

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

description: Decreased ability to react to a delayed hypersensitivity skin test.


akinetic mutism

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

description: A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral frontal lobe dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. (From Adams et al., Principles of Neurology, 6th ed, p348; Fortschr Neurol Psychiatr 1995 Feb;63(2):59-67)


name: Decreased circulating apolipoprotein B concentration

description: Reduced circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100.


Flared lower limb metaphysis

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


atypical teratoid rhabdoid tumor

description: Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children.


name: Elevated circulating hexanoylcarnitine concentration

description: Concentration of hexanoylcarnitine in the blood circulation above the upper limit of normal.


Abnormal interlobular vein morphology

description: Any structural anomaly of the interlobular veins of the kidney. An interlobular vein is surrounded by the renal cortex and located between renal lobules (consisting of the nephrons surrounding a single medullary ray and draining into a single collecting duct).


Distal femoral bowing

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


name: Aplasia/Hypoplasia of the phalanges of the 3rd finger


name: Fragmentation of the epiphysis of the middle phalanx of the 4th finger

description: Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger.


Abnormal CSF urate concentration

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


mediastinum teratoma

description: A teratoma that involves the mediastinum.


Urethral stricture

description: Narrowing of the urethra associated with inflammation or scar tissue.


name: Abnormal blood transition element cation concentration

description: An abnormality of the homeostasis (concentration) of transition element cation.


Branchial sinus

description: A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal.


Neonatal short-limb short stature

description: A type of short-limbed dwarfism that is manifest beginning in the neonatal period.


Fasciculations

description: Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.


name: Abnormal atrioventricular valve physiology

description: Any functional defect of the mitral or tricuspid valve.


name: Widely-spaced maxillary central incisors

description: Increased distance between the maxillary central permanent incisor tooth.


Paroxysmal rectal pain

description: Excruciating burning pain in the rectal area that may be triggered by defecation.


name: Triangular epiphyses of the phalanges of the hand

description: A triangular appearance of the epiphyses of the phalanges of the fingers of the hand.


Carotid cavernous fistula

description: An abnormal connection between a carotid artery and the cavernous sinus.


Abnormal position of hair whorl

description: Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull.


name: Elevated urine guanidinoacetic acid level

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


name: Symphalangism affecting the proximal phalanges of the toes


name: Hypothalamic luteinizing hormone-releasing hormone deficiency

description: Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus.


name: Elevated circulating lathosterol concentration

description: Concentration of lathosterol in the blood circulation above the upper limit of normal.


Type 3 schizencephaly

description: A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal gray matter.


Elevated plasma cell count

description: An abnormally high number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.


Episodic vomiting

description: Paroxysmal, recurrent episodes of vomiting.


name: X-linked hypohidrotic ectodermal dysplasia

description: An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin.


Agenesis of the anterior commissure

description: Absence of the anterior commissure.


Short clavicles

description: Reduced length of the clavicles.


Abnormal corpus callosum morphology

description: Abnormality of the corpus callosum.


name: Focal aware cognitive seizure with conduction dysphasia/aphasia

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


Interlobular intima/media venosclerosis

description: Thickening of the intima with fibrosis and/or duplication of the elastic lamina in interlobular veins of the kidney.


Advanced tarsal ossification

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


Enlarged hippocampus

description: Increase in size of the hippocampus.


Intratubular bilirubin casts

description: A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On H&E (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green).


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

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


name: Enlarged epiphysis of the distal phalanx of the hallux


name: Arteriovenous fistulas of celiac and mesenteric vessels


Abnormal peritoneum morphology

description: An abnormality of the peritoneum.


Abnormality of head or neck

description: An abnormality of head and neck.


name: Ivory epiphysis of the middle phalanx of the 5th toe


Abnormal external nose morphology

description: An abnormality of the external nose.


exercise-induced malignant hyperthermia

description: Malignant hyperthermia that is characterized by exercise-induced life-threatening hyperthermia with a body temperature over 40 degrees C and signs of encephalopathy ranging from confusion to convulsions or coma. Incidence increases with rising ambient temperature and relative humidity. Manifestations may include rhabdomyolysis (presenting with myalgia, muscle weakness, and myoglobinuria), tachycardia, and in severe cases multiorgan failure.


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.


Upper limb muscle weakness

description: Weakness of the muscles of the arms.


Anterior creases of earlobe

description: Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe.


Patchy sclerosis of 5th finger phalanx

description: Uneven increase in bone density of one or more of the phalanges of the 5th finger.


Receptive language delay

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


Anti-HLA-B antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-B (HLA-B).


name: Absent epiphysis of the proximal phalanx of the thumb

description: Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Reduced prothrombin consumption

description: The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia.


Intellectual disability, borderline

description: Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.


superficial spreading melanoma

description: A type of melanoma that typically occurs in light-skinned individuals ranging in age from young adults to the elderly. Risk factors include extensive sun exposure during childhood, a family history of melanoma, and the presence of dysplastic nevi.


Fusiform aortic arch aneurysm

description: A concentric abnormal localized widening (dilatation) of the aortic arch that involves the full circumference of the vessel wall.


name: Osteolysis involving bones of the upper limbs


Anti-SOX1 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SOX1. Anti-SOX1 antibodies, also known as antiglial nuclear antibody (AGNA), are specifically found in paraneoplastic neurological disorders. Since SOX1 is expressed in neuronal precursor cells in the developing central nervous system, it has been used as an early marker of neural stem cells.


name: Ventilator dependence with inability to wean


teeth, fused

description: The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch.


Bronchial artery hypertrophy

description: Increase in the volume of bronchial artery wall due to the enlargement of its component cells.


Recurrent herpes

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


Lemon sign

description: The lemon sign refers to the shape of the fetal skull at ultrasonography (US) when the frontal bones lose their normal convex contour and appear flattened or inwardly scalloped. This gives the skull a shape that is said to resemble a lemon.. The sign is seen on transverse sonograms of the fetal cranium obtained at the level of the ventricles.


Facet joint arthrosis

description: Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray.


Focal absence of the external ear

description: Absence of a localized portion of the ear that cannot be described by a more precise term (e.g., absent ear lobe).


cervical rib disease

description: A rib that is attached to a cervical vertebra or enlarged transverse processes.


familial congenital mirror movements

description: Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected.


congenital vertical talus

description: Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus.


Nasal hamartoma

description: A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the nose.


Fibular duplication

description: Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition.


Abnormal periosteum morphology

description: An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones.


name: Cortical radial artery lymphocyte hypercellularity

description: A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of cortical radial arteries.


Granulomatous coronary arteritis

description: Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.


Anterior mediastinal mass

description: A type of inferior mediastinal mass that is located in front of the pericardium.


Generalized hypertrichosis

description: Generalized excessive, abnormal hairiness.


Costovertebral angle tenderness

description: Pain that is elicited by palpation of the region inside of the costovertebral angle, which is formed by the 12th rib and the spine.


commissural facial cleft

description: Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)


bifid nose

description: Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated.


Fractured distal tarsal bone 3

description: A partial or complete breakage of the distal tarsal bone 3.


Pelvic arteriovenous malformation

description: An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the pelvis.


Subependymal cysts

description: Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life.


Abnormality of the scalp hair

description: An abnormality of the hair of head.


name: Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine

description: The inability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.


name: Impaired annexin V binding to platelet phosphatidylserine

description: Reduced binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry.


Portal inflammation

description: Infiltration of portal fields by inflammatory cells.


Cessation of head growth

description: Stagnation of head growth seen as flattening of the head circumference curve.


Facial hyperostosis

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


name: Chronic partially decreased circulating IgG1

description: A lasting limited decrease of immunoglobulin G1 (IgG1) in the blood.


2-4 toe syndactyly

description: Syndactyly with fusion of toes two to four.


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


Rightward direction of ventricular apex

description: Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal.


name: Small epiphysis of the distal phalanx of the 3rd finger

description: Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms.


trigonocephaly

description: Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.


Progressive sclerosis of skull base

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


name: Anti-beta 2 glycoprotein I antibody positivity

description: Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS).


name: Elevated alkaline phosphatase of renal origin

description: An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.


Abnormality of the stapes

description: An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear.


Premature loss of primary teeth

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


Pulmonary blood flow redistribution

description: Pulmonary blood flow redistribution refers to any departure from the normal distribution of blood flow in the lungs that is caused by an increase in pulmonary vascular resistance elsewhere in the pulmonary vascular bed. Pulmonary blood flow redistribution is indicated by a decrease in the size and/or number of visible pulmonary vessels in one or more lung regions, with a corresponding increase in number and/or size of pulmonary vessels in other parts of the lung.


Decreased peak expiratory flow

description: A reduction in the maximum expiratory flow per minute, which can be used to measure how fast a subject can exhale as well as to judge the strength of the expiratory muscles and the condition of the large airways.


name: Focal impaired awareness sensory seizure with gustatory features

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


name: Decreased number of peripheral myelinated nerve fibers

description: A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).


name: Abnormal circulating fatty-acid concentration

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


Fractures, Closed

description: A traumatic break to the bone in which the continuity of the bone has not broken through the skin.


name: Abnormal cutaneous elastic fiber morphology

description: Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils.


Abnormality of body weight

description: An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.


Nocturnal hypoventilation

description: An abnormal reduction in alveolar ventilation occuring during sleep. This is characterized by a rise in arterial carbon dioxide.


Elbow extension contracture

description: An elbow contracture that limits the ability of the elbow joint to flex (flexion of the the elbow joint refers to bending the elbow joint to bring the hand closer to the shoulder), meaning that the elbow is fixed in an extended (straight) position.


ornithine aminotransferase deficiency

description: A very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract.


name: Focal aware autonomic seizure with lacrimation


Diastolic heart murmur

description: A heart murmur that occurs during diastole, i.e., in the time between S2 and the subsequent S1.


Abnormality of facial musculature

description: An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve).


Hydroxyprolinuria

description: An increased concentration of 4-hydroxy-L-proline in the urine.


Short metacarpal

description: Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.


name: Anti-centromere protein A antibody positivity

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


Abnormal circulating IgM level

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


Proximal tapering of metacarpals

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


EEG with focal sharp slow waves

description: EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.


Metatarsal osteolysis

description: Osteolysis involving metatarsal bones.


Abnormal social emotional interactions

description: Social emotional interactions refer to the exchange of feelings during social interactions by means of a wide range of communicative behaviors including facial expressions, body language, and verbal communication. This term refers to an atypically low production of emotion social communication by an individual.


Microretrognathia

description: A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.


Periorificial hyperkeratosis

description: Scaling and overgrowth of horny tissue of the skin surrounding body orifices (including peri-auricular, peri-oral, peri-anal areas.


name: Abnormality of the phalanges of the 2nd finger

description: Abnormality of the phalanges of the 2nd (index) finger.


Meningeal calcification

description: Calcium deposition affecting the Meninges.


Basal ganglia necrosis

description: Death of cells in the basal ganglia. This finding can be confirmed by autopsy. It can be suspected with hyperintensities within the basal ganglia on FLAIR and T2-sequences on magnetic resonance imaging.


Decreased CSF erythritol concentration

description: Concentration of erythritol in the cerebrospinal fluid below the lower limit of normal.


Abnormal QRS complex

description: An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram.


name: Short proximal phalanx of the 4th finger

description: Hypoplastic/small proximal phalanx of the fourth finger.


Dysmorphic hematuria

description: The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria.


Chronic cutaneous wound

description: A cutaneous wound that has failed to proceed through the orderly and timely process to produce an atomic and functional integrity, or proceeded through the repair process without establishing a sustained anatomic and functional result.


Myocardial steatosis

description: Steatosis in the myocardium.


Abnormality of dental eruption

description: An abnormality of tooth eruption.


name: Acroosteolysis of distal phalanges (feet)


Hot water-induced seizure

description: A seizure precipitated by pouring cupfuls of very hot water (40 to 50 degrees Celsius) in rapid succession over the head. Bathing in this manner is the most common trigger.


name: Aplasia/Hypoplasia of the distal phalanx of the 2nd toe


name: Decreased proportion of marginal zone B cells

description: A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.


Prominent palatine ridges

description: Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge.


Cerebellar dysplasia

description: Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts.


name: Symphalangism of middle phalanx of finger

description: Fusion of a middle phalanx of a finger with another bone.


Hypertrophy of the upper limb

description: Abnormal increase in size of the upper limbs (due to an increase of the size of cells).


Anti-dsDNA antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA.


name: Abnormal response to corticotropin releasing hormone stimulation test

description: An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals.


Invasive dermatophyte infection

description: Infection that extends deeply into the dermis by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails.


Impaired oral bolus formation

description: An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed.


name: Expanded metatarsals with widened medullary cavities


name: Focal sensory seizure with hot-cold sensations

description: A seizure characterized by sensations of feeling hot or cold as its first clinical manifestation.


Increased antral follicle count

description: A count of antral follicles that is higher than normal for age.


Inspiratory stridor

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


Hypoplastic nasal bone

description: Length of the nasal bone below a predetermined cut-off as seen on antenatal ultrasound using standard imaging techniques.


Anterolateral radial head dislocation

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


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

description: Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger.


name: Disturbance during transitions between sleep and wake states

description: A group of parasomnias that occur during the transition from wakefulness to sleep or from one sleep stage to another. Rhythmic Movement Disorder, Sleep Starts, Sleep Talking, and Nocturnal Leg Cramps - these four disorders belong to Sleep-Wake Transition Disorders in the International Classification of Sleep Disorders.


Abnormal skull morphology

description: An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone.


Uterine mass

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


Neoplasm by histology

description: Neoplasm categorized according to type of histological abnormality.


name: Abnormal renal arteriole lumen morphology

description: Abnormal structural characteristics of the interior space (lumen) of renal arterioles.


name: Impaired lymphocyte transformation with phytohemagglutinin

description: Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.


T2 hyperintense cerebellar lesion

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


Flexion contracture of the 4th toe

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


name: Abnormal regional left ventricular contraction

description: A wall motion abnormality observed upon left ventricular contraction that affects a specific region of the left ventricle.


name: Abnormal proportion of CD4-positive helper T cells

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


Abnormal CSF glutamate concentration

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


Flaky paint dermatosis

description: A dermatosis characterized by generalized shiny, enamel-like, hyperpigmented scales in an irregular pattern. The scales may peel or desquamate, rather like old, sun-baked blistered paint, often with areas of underlying hypopigmentation. This has led to the terms peeling paint or flaky paint dermatosis (See the Figure in PMID:24285001).


name: immunodeficiency due to selective anti-polysaccharide antibody deficiency

description: Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR).


Abnormal ulnar metaphysis morphology

description: Any structural abnormality of the portion of the ulna between the epiphysis and the diaphysis.


Tongue tremor

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


Subsolid pulmonary nodule

description: Pulmonary subsolid nodules (SSNs) refer to pulmonary nodules with pure ground-glass nodules and part-solid ground-glass nodules. A ground-glass nodule (GGN) is the morphologic description of a pulmonary nodule category on thin-section chest computed tomography (CT). During the past decade, the natural history, management strategy and long-term prognosis in the case of GGNs have attracted attention.


Abnormal prostate morphology

description: An abnormality of the prostate.


Fascicular left ventricular tachycardia

description: A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG).


name: Impaired renal tubular reabsorption of uric acid

description: Decreased renal tubular reabsorption of uric acid.


Neck muscle hypoplasia

description: Underdevelopment of muscles of the neck.


Delusional misidentification

description: A group of complex, monothematic delusional phenomena in which subjects hold a belief that the identity of a familiar person, object, location, or self has been altered or replaced.


Focal cognitive seizure

description: A focal cognitive seizure involves an alteration in a cognitive function (which can be a deficit or a positive phenomenon such as forced thought), which occurs at seizure onset. To be classified as a focal cognitive seizure, the change in cognitive function should be specific and out of proportion to other relatively unimpaired aspects of cognition, because all cognition is impaired in a focal impaired awareness seizure.


description: A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone.


Eosinophilic lymph node infiltration

description: Presence of an elevated number of eosinophils in a lymph node (usually as demonstrated by lymph node biopsy).


EEG with generalized spikes

description: EEG with generalized sharp transient waves of a duration less than 80 msec.


Paroxysmal sneezing

description: Unprovoked explosive pathological sneezing.


Decreased circulating total IgA

description: Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L).


Tactile hypersensitivity

description: A decreased tolerance to physical touch.


Abnormal ear physiology

description: Any functional anomaly of the ear.


Calcium oxalate crystalluria

description: The presence of calcium oxalate crystals in the urine.


Abnormal vaginal bleeding

description: Abnormal vaginal bleeding occurs between menstrual periods, after sex, or after menopause. Menstrual periods that are heavier or last longer than usual or last more than seven days also are considered abnormal.


name: Degeneration of the lateral corticospinal tracts

description: Deterioration of the tissues of the lateral corticospinal tracts.


Renal interstitial foam cells

description: Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles.


Long hallux

description: Increased length of the big toe.


name: Partial absence of specific antibody response to unconjugated pneumococcus vaccine

description: A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.


name: Fatigable weakness of distal limb muscles

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


Supracondylar elbow fracture

description: A type of elbow fracture that involves the distal humerus just above the elbow.


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


Recurrent patellar dislocation

description: Patellar dislocation occurring repeated times.


Allantoic cyst

description: A swelling formed at the base of umbilicus associated with a patent urachus which results from an allantoic remnant. The urachus is a fibrous remnant of the allantois which communicates from the apex of the urinary bladder to the umbilicus. Failed obliteration of the urachus can lead to various abnormalities: urachal cyst, urachal diverticulum, sinus or patent urachus - the most common type. Allantoic cysts in infants with patent urachus can be formed due to the drainage of urine into the umbilical cord, or in uncommon situations, after leakage of hypo-osmotic urine into the Wharton's jelly.


Antalgic gait

description: To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position.


Tremor by anatomical site

description: Tremor classified by the affected body part.


amelogenesis imperfecta

description: Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.


Thin toenail

description: Toenail that appears thin when viewed on end.


Middle cerebral artery calcification

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


L-2-hydroxyglutaric aciduria

description: L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.


Esophageal exudate

description: An exudate is a mass of fluid and cells that has seeped out of blood vessels or an organ, usually related to inflammation. In the esophagus, exudates usually present as whitish plagues on the surface of the esophageal mucosa.


name: Distal/middle symphalangism of 5th finger

description: Fusion of the terminal/distal and middle phalanges of the 5th finger.


Unilateral perisylvian polymicrogyria

description: A type of perisylvian polymicrogyria that largely affects one side of the brain.


name: Macular hypopigmented whorls, streaks, and patches


Curved 1st metatarsal

description: A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone.


name: Abnormality of the middle phalanx of the 4th toe


Inappropriate behavior

description: An explicit or perceived action, demonstration, conduct, or language (verbal and written) that is contrary to generally accepted norms, rules, procedures, or unacceptable within the context in which it is carried out. Inappropriate behaviors could take place in a sexual or social context and could be aggressive, violent, impulsive, intimidating, or threatening in nature.


Descending thoracic aorta aneurysm

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


Cerebral dysmyelination

description: Defective structure and function of myelin sheaths of the white matter of the brain.


name: Cortical radial artery intima/media necrosis

description: Cell death (necrosis) in the inner or middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.


Focal cognitive seizure with neglect

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


name: Arteriosclerosis of small cerebral arteries

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


Abnormal transferrin saturation

description: Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity.


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


Palmomental reflex

description: A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm.


Delayed ability to walk

description: A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.


name: EEG with generalized slow activity grade 3

description: Generalized slowing of EEG activity at frequencies between 0.5-3 Hz.


Abnormal T3/T4 ratio

description: A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal.


Anterior cerebral artery stenosis

description: Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery.


description: Generalized non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically generalized. It is a prolonged absence seizure.


Abnormality of T cell physiology

description: A functional anomaly of T cells.


Decreased HDL2b concentration

description: A reduction below the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.


Absent epiphyses of the toes

description: Absence of the epiphyses of the phalanges of the toes.


Ground-glass opacification

description: On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured.


fused mandibular incisors

description: Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia and an increased risk of pulp exposure.


Focal motor status epilepticus

description: Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.


central sleep apnea syndrome

description: A broad classification of disorders which includes 6 subtypes (primary central sleep apnea, central sleep apnea due to Cheyne-Stokes breathing pattern, central sleep apnea due to medical condition not Cheyne-Stokes, central sleep apnea due to high-altitude periodic breathing, central sleep apnea due to drug or substance and primary sleep apnea of infancy) that are each characterized by interruptions in breathing while asleep. It is caused by improper signaling from the brainstem to respiratory muscles and is triggered by either hypoventilation or hyperventilation. In adults, this disorder may arise following a stroke, congestive heart failure, trauma, infection or the use of narcotic medications. It is more common in older males and may present as a co-morbid condition to obesity. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health.


name: Increased circulating carnosine concentration

description: Concentration of carnosine in the blood circulation above normal limits.


name: Aplasia/hypoplasia of the proximal phalanx of the 5th toe

description: Absence (agenesis) or underdevelopment of the proximal phalanx of the 5th toe.


Splenic cyst

description: A closed sac located in the spleen.


name: Decreased circulating plasmalogen concentration

description: Reduced plasmalogen concentration in the blood circulation.


Pseudo-chilblains on fingers

description: Inflammatory chilblain-like nodules on the hands and/or fingers.


Right unicoronal synostosis

description: Unicoronal synostosis affecting only the right coronal suture.


Craniofacial teratoma

description: A teratoma located in the craniofacial region.


radial heads, posterior dislocation of

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


name: Abnormal morphology of the proximal phalanx of the 4th toe


False perception of self-motion

description: A perception that one's body is moving or swaying despite lack of motion of the body.


Camptodactyly of toe

description: Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.


Abnormal fallopian tube morphology

description: An abnormality of the fallopian tube.


Exercise-induced myoglobinuria

description: Presence of myoglobin in the urine following exercise.


multinodular goiter

description: Nodular goiter characterized by more than one discrete tissue mass.


Esophageal dilation

description: Widening (relatively uniform increase in diameter) of a segment of the esophagus.


Ageusia

description: A rare condition that is characterized by a complete loss of taste function of the tongue.


Sub-lamina densa cleavage

description: A type of blistering in which the cleavage plane of blisters is located below the lamina densa.


Abnormal lacrimal artery morphology

description: An abnormality of a lacrimal artery.


Acrokeratosis

description: Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet.


Aplasia/Hypoplasia of the liver

description: Absence or underdevelopment of the liver.


Facial hypotonia

description: Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).


name: Abnormal circulating serine family amino acid concentration

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


Abnormality of pancreas physiology

description: An anomaly of the function of the pancreas.


name: Recurrent streptococcus pneumoniae infections

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


name: neurodegenerative syndrome due to cerebral folate transport deficiency

description: A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite.


Bounding pulse

description: Increased amplitude (strength) of the pulse.


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.


Chronic noninfectious lymphadenopathy

description: A chronic form of lymphadenopathy that is not related to infection.


name: Small epiphyses of the proximal phalanges of the hand


fibromatosis

description: A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern.


Congenital goiter

description: An enlargement of the thyroid gland with congenital onset.


Focal hemiclonic seizure

description: A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset.


Perifollicular erythema

description: Redness surrounding the hair follicles.


Spinal canal stenosis

description: An abnormal narrowing of the spinal canal.


perinatal lethal hypophosphatasia

description: A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.


Duplication of phalanx of hand

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


Underdeveloped antitragus

description: Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.


Serinuria

description: A increased concentration of serine in the urine.


name: Decreased glucose-6-phosphate dehydrogenase level in dried blood spot

description: A decrease in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.


Absent soft palate

description: A developmental defect characterized by lack of a soft palate.


Abnormal femur morphology

description: Any anomaly of the structure of the femur.


Abnormal shape of the frontal region

description: An abnormal shape of the frontal part of the head.


Short nasal bridge

description: Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose.


Abnormality of the malleus

description: An abnormality of the malleus, an ossicle in the middle ear.


Abnormal CSF/serum albumin ratio

description: A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF.


Malignant rhabdoid tumor of liver

description: A malginant rhabdoid tumor (MRT) originating in the liver. MRT are best characterized by the presence of round or polygonal cells with abundant eosinophilic cytoplasm, typical eosinophilic perinuclear inclusions, vesicular nuclei and prominent nucleoli. Immunohistochemical expression of vimentin and epithelial markers and lack of staining for S-100, myoglobin and desmin are commonly found, but are non-specific.


name: Complete or near-complete absence of specific antibody response to hepatitis B vaccine

description: The inability to synthesize postvaccination antibodies against a hepatisis B antigen, as measured by antibody titer determination following vaccination.


Speech articulation difficulties

description: Impairment in the physical production of speech sounds.


bladder exstrophy

description: Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.


Abnormal femoral head morphology

description: An abnormality of the femoral head.


Irregular phalanges

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


name: Alternating radiolucent and radiodense metaphyseal lines

description: Areas of radio-opaque sclerotic bands alternating with those of normal lucency give rise to stripes akin to a zebra.


Insect allergy

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


dental pulp calcification

description: Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies.


Abnormality of the pubic hair

description: Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty.


Thoracoabdominal ectopia cordis

description: Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity.


Auricular tag

description: Small protrusion within the pinna.


name: Hypoplasia of the capital femoral epiphysis

description: Underdevelopment of the proximal epiphysis of the femur.


Elevated CSF thymine concentration

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


name: Expanded terminal portion of crus of helix

description: Widening, rather than tapering, of the crus at its posterior border near the antihelix.


Fair hair

description: A lesser degree of hair pigmentation than would otherwise be expected.


craniofacial microsomia

description: A congenital birth defect characterized by incomplete development or absence of face structures, usually affecting one side of the face. The defects include partially formed or absent ear, nose, lip, mandible, and/or soft palate.


name: Renal interstitial mononuclear cell infiltration

description: Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei).


Periventricular heterotopia

description: A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass.


Abnormality of the diencephalon

description: An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain.


Recurrent sinusitis

description: A recurrent form of sinusitis.


name: Triangular shaped middle phalanx of the 4th finger

description: Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


name: Triangular shaped middle phalanx of the 2nd toe


Facial hemangioma

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


Abnormality of the amniotic fluid

description: Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus.


Elevated circulating osteopontin level

description: Abnormally increased level of osteopontin in the blood circulation


Aortic isthmus hypoplasia

description: A type of aortic arch hypoplasia whereby the isthmus (arch between the left subclavian and insertion of the patent ductus arteriosus/ligamentum arteriosum) has a diameter of less than 40% of the diameter of the ascending aorta.


Thickened intrahepatic portal venules

description: Increased width of the vascular wall of portal venules within the liver.


name: Common origin of the right brachiocephalic artery and left common carotid artery

description: The left common carotid artery has a common origin with the innominate artery.


Ulnar claw

description: An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm.


Pancreatic arteriovenous malformation

description: Pancreatic arteriovenous malformation is defined as an abnormal vascular net, developed from one or more feeding arteries and enlarged early draining veins, creating an arteriovenous shunting.


name: Elevated circulating thyroid-stimulating hormone concentration

description: Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation.


name: Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal


androgenetic alopecia

description: Absence of hair in the anterior midline and/or parietal areas.


Abnormal paranasal sinus morphology

description: Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses.


panhypopituitarism

description: Insufficient production of all the anterior pituitary hormones.


Genu valgum

description: The legs angle inward, such that the knees are close together and the ankles far apart.


Indurated nodule

description: A skin nodule that is unusually hard (indurated).


name: Aplasia/Hypoplasia of the distal phalanx of the 3rd finger


Superior cerebellar dysplasia

description: Abnormal morphological development of the superior part of the cerebellum.


Pelvic girdle muscle weakness

description: Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.


Asymmetry of the mouth

description: The presence of an asymmetric mouth.


Clonal T cell receptor rearrangement

description: Presence of a predominant T cell clone. In PCR-based assays, this finding is inferred on the basis of one or two prominent bands within a valid size range. In NGS-based assays, this finding is inferred on the basis of a high number of reads that map to a single T cell receptor clone.


Mild fetal ventriculomegaly

description: A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637).


Sprengel deformity

description: A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).


Abnormal right ventricular function

description: Anomalous physiology (function) of the right ventricle.


ependymoblastoma

description: Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis.


Curved proximal phalanx of the 3rd toe

description: A deviation from the normal straight form of the proximal phalanx of the third toe.


Impaired pain sensation

description: Reduced ability to perceive painful stimuli.


Abnormality of the diaphragm

description: Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity.


Brachytelomesophalangy

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


Radial deviation of the hand

description: An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb).


name: Anti-thyroid peroxidase antibody positivity

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


Exercise-induced lactic acidemia

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


Liver hamartoma

description: A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the liver.


name: Increased level of galactonate in red blood cells

description: An increase in the level of galactonate in the red blood cells.


name: Ivory epiphysis of the middle phalanx of the 4th finger

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


name: Abnormal circulating gonadotropin concentration

description: An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).


name: Abnormal circulating eicosanoid concentration

description: Any deviation from the normal concentration in the blood circulation of an icosanoid (also known as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid).


Increased anti-drug IgE antibody level

description: Increased level of IgE antibody against a drug or class of drugs, such as antibiotics.


Extension contracture of finger

description: A type of finger joint contracture in which the joint lacks full expected flexion, so that the two bony segments on either side of their connecting joint cannot be brought together.


Conical incisor

description: An abnormal conical morphology of the incisor tooth.


Abnormal CSF tyrosine concentration

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


Paratracheal lymphadenopathy

description: Enlargement of lymph nodes surrounding the trachea.


Impaired antigen-specific response

description: An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).


Abnormal hair whorl

description: An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair).


Abnormal mandibular ramus morphology

description: An abnormality of a mandibular ramus.


name: Medial calcification of medium-sized arteries

description: Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries.


Episodic abdominal pain

description: An intermittent form of abdominal pain.


Waddling gait

description: Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.


name: Partial duplication of the distal phalanx of the hallux


Increased CSF leucine concentration

description: Abnormally increased levels of leucine in cerebrospinal fluid.


Abnormal alpha-beta T cell morphology

description: A structuraly anomaly of T cells that express an alpha-beta T cell receptor.


name: Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot

description: An anomaly in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.


Decreased CSF valine concentration

description: Any decreased amount from normal of valine in the cerebrospinal fluid.


Halberd-shaped pelvis

description: An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle).


Nezelof syndrome

description: Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination.


Agenesis of putamen

description: A developmental defect characterized by the absence of the putamen owing to its failure to develop.


name: Impaired pathogen-specific CD8 cytoxicity

description: Impaired response of CD8 T cells to pathogens. CD8 T cells direct the killing of a target cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors.


Hypodysplasia of the corpus callosum

description: Developmental defect characterized by a small and malformed corpus callosum.


name: Anti-signal recognition particle antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against anti-signal recognition particle.


name: Fragmentation of the epiphysis of the distal phalanx of the 3rd finger

description: Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger.


Neonatal multifocal myoclonic seizure

description: Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) that occurs at multiple sites.


Secondary vesicoureteral reflux

description: Vesicoureteral reflux induced by increased bladder pressures in patients with voiding dysfunction e.g. in case of congenital posterior urethral valves or neurogenic bladder dysfunction.


Reduced arm span

description: Decreased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle).


Everted upper lip vermilion

description: Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip.


Axonal degeneration/regeneration

description: A pattern of simultaneous degeneration and regeneration of axons (see comment).


Abnormal tongue physiology

description: Any functional anomaly of the tongue.


Renal intimal/medial arteriolitis

description: Inflammation of an arteriole of the kidney, which may involve only the intma or can be transmural.


Uric acid crystalluria

description: The presence of uric acid crystals in the urine.


congenital afibrinogenemia

description: Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.


Increased CSF ornithine concentration

description: Abnormally increased levels of ornithine in cerebrospinal fluid.


Trichodiscoma

description: A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion.


Tetraphocomelia

description: Phocomelia involving all four extremities.


Madelung deformity

description: Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow.


Ovarian serous cystadenoma

description: A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue.


name: Univentricular heart with absent left sided atrioventricular connection


Extra concha fold

description: Folds or ridges within the concha that are distinct from the crus helix.


name: Increased circulating mannose-binding protein concentration

description: Concentration of mannose-binding protein in the blood circulation above the upper limit of normal.


name: Abnormal circulating plasminogen activator inhibitor 1 activity

description: The activity or concentration of plasminogen activator inhibitor-1 in the blood circulation is outside of the limits of the normal range.


Diagonal earlobe crease

description: Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees.


Reduced bone mineral density

description: A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.


name: Renal arteriole neutrophil endoarterial hypercellularity

description: A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased numbers of neutrophils within the arteriolar lumen.


Decreased circulating IgD

description: An abnormally decreased level of immunoglobulin D (IgD) in blood.


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

description: Complete duplication of the third proximal phalanx of hand.


name: Impaired stimulus-induced skin wrinkling

description: A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth).


Abnormal upper lip morphology

description: An abnormality of the upper lip.


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


Double inlet right ventricle

description: The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic.


proximal symphalangism

description: Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.


Spontaneous neonatal pneumothorax

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


right aortic arch

description: An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided.


Anti-nucleoporin 62 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against nucleoporin 62.


name: Decreased left ventricular end-diastolic volume

description: Abnormally low volume of blood in the left ventricle at the end of diastole (just before systole).


motor neuron disorder

description: A disease involving the motor neuron.


Early onset of sexual maturation

description: An early onset of puberty, in this case early does not refer to precocious.


name: Elevated circulating gamma-aminobutyric acid concentration

description: An increase in the level of Gamma-aminobutyric acid (GABA) in the blood circulation.


name: Bilateral tonic-clonic seizure with generalized onset

description: A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure.


name: Focal aware autonomic seizure with urge to urinate/defecate

description: A focal autonomic seizure with urge to urinate / defecate characterized by retained awareness throughout the seizure.


Abnormal motivation

description: Behavioral patterns and/or energy/activity levels that are statistically uncommon within a particular culture, maladaptive, and result in personal distress and impairment in the individual's functioning.


name: Enlarged epiphysis of the distal phalanx of the 2nd toe


Abnormal corpus striatum morphology

description: Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens.


Bullet-shaped 1st metatarsal

description: An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction.


Hypoesthesia

description: Decreased ability to perceive touch.


Plantar telangiectasia

description: Telangiectases (small dilated blood vessels) located on the skin of sole of foot.


Focal cortical dysplasia

description: A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons.


Humeral exostoses

description: Presence of more than one exostosis originating in one or noth humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.


Tonic status epilepticus

description: Tonic status epilepticus is a type of status epilepticus characterized by focal or bilateral limb stiffening or elevation, which may be electrographically generalized or focal.


name: Aplasia/Hypoplasia of the distal phalanx of the hallux


name: Monoclonal light chain cardiac amyloidosis

description: A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry.


Abnormal cervical spine morphology

description: Any morphological abnormality of the cervical vertebral column.


name: Cone-shaped epiphysis of the middle phalanx of the 2nd toe


Open mouth

description: A facial appearance characterized by a permanently or nearly permanently opened mouth.


name: Status epilepticus with prominent motor symptoms

description: Status epilepticus with prominent motor signs during the prolonged seizure.


Mandibular aplasia

description: Absence of the mandible.


name: Recurrent viral upper respiratory tract infections

description: An increased susceptibility to viral upper respiratory tract infections as manifested by a history of recurrent viral upper respiratory tract infections (otitis, sinusitis, pharyngitis, tonsillitis).


name: Stippling of the epiphyses of the 4th toe

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th toe.


Absent isohemagglutinin level

description: Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).


Thoracic kyphosis

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


Aplasia of the 2nd finger

description: Absent 2nd (index) finger.


Distal ulnar hypoplasia

description: Underdevelopment of the distal portion of the ulna.


name: Osteolytic defects of the distal phalanx of the hallux


Hypoperistalsis

description: Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract.


name: Cone-shaped epiphysis of the proximal phalanx of the 5th finger

description: A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.


Uvular swelling

description: Abnormal enlargement of the uvula related to an abnormal accumulation of fluid.


Focal seizure with eyelid myoclonia

description: Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures.


name: Abnormality of the proximal phalanx of the 5th finger

description: Abnormality of the proximal phalanx of the little (5th) finger.


EEG with temporal focal spikes

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


Patellar aplasia

description: Absence of the patella.


name: Criss-cross atrioventricular valves with superior-inferior ventricles

description: Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side.


name: Superior-inferior ventricles without criss-cross atrioventricular valves


Lipomeningocele

description: A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life.


Euphoria

description: Euphoria is a feeling of intense joy, happiness, excitement, or elation that surpasses what would typically be anticipated in a given situation.


name: Abnormality of the dorsal column of the spinal cord

description: An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus.


Penoscrotal hypospadias

description: A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum.


name: Partial absence of specific antibody response to hepatitis B vaccine

description: A reduced ability to synthesize postvaccination antibodies against a hepatitis B antigen, as measured by antibody titer determination following vaccination.


EEG with focal sharp waves

description: EEG with focal sharp transient waves of a duration between 80 and 200 msec.


Fatigable weakness

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


Head tremor

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


name: Decreased circulating ceruloplasmin concentration

description: Decreased concentration of ceruloplasmin in the blood.


Short upper lip

description: Decreased width of the upper lip.


Prolonged reptilase time

description: An abnormally increased duration of the reptilase time. Reptilase time is a functional plasma clotting assay, which is based on the enzymatic activity of batroxobin. By specifically cleaving fibrinogen A from fibrinogen, batroxobin leads to the formation of a stable fibrin clot. The time, starting from the addition of batroxobin to the plasma sample, until clot formation is the reptilase time and is given in seconds.


name: Cortical peritubular capillary intraluminal thrombi

description: Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the cortex of the kidney.


Anti-HLA-A IgG1 antibody positivity

description: The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A).


Abnormal umbilical stump bleeding

description: Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth.


Delayed ability to sit

description: A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age.


Abnormality of fibrinolysis

description: Clincial phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis)


Unilateral wrist flexion contracture

description: A chronic loss of wrist joint motion on one side only.


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


Progressive microcephaly

description: Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.


Chronic lymphocytic meningitis

description: Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF).


name: Enlarged epiphysis of the proximal phalanx of the 5th toe


name: Cone-shaped epiphysis of the distal phalanx of the 4th toe


name: Elevated circulating erythropoietin concentration

description: Increased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.


Abnormality of the inner ear

description: An abnormality of the inner ear.


name: Reduced plasminogen activator inhibitor 1 antigen

description: Reduced level of plasminogen activator inhibitor 1 antigen.


Socially inappropriate questioning

description: A tendency to ask questions that are overly personal or otherwise inappropriate in the social situation in which they are asked.


Tongue telangiectasia

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


name: Elevated circulating thrombopoietin concentration

description: Concentration of thrombopoietin in the blood circulation above the upper limit of normal. Thrombopoietin is a glycoprotein hormone produced by the liver and kidney that stimulates the production and differentiation of megakaryocytes.


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.


Shark teeth

description: Eruption of permanent teeth behind deciduous (baby) teeth before they have fallen out, resulting in a double row of teeth. This phenomen is typically observed between the ages of 5 to 7 years.


Bullet-shaped toe phalanx

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


Short nail

description: Decreased length of nail.


name: Ductus venosus agenesis with extrahepatic drainage and liver bypass

description: A form of ductus venosus agenesis in which umbilical vein does not connect to the portal venous system. The liver is bypassed and the umbilical vein drains into a systemic vein such as the inferior vena cava. This variant has been reported to have an unfavorable prognosis due to a presumed association with congestive heart failure and hydrops.


Unicornuate uterus

description: A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn.


Mesangial hypercellularity

description: Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain.


Hyperplastic colonic polyposis

description: Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation.


Absent left main coronary artery

description: The left main coronary artery (LMCA) is absent and the left anterior descending (LAD) and left circumflex (LCX) arteries arise from separate but adjacent ostia in the left sinus of Valsava.


name: Abnormal glucose-6-phosphate dehydrogenase level in blood

description: An anomaly in the level of glucose-6-phosphate dehydrogenase in the blood.


Endosteal scalloping

description: A series of indentations or erosions on a normally smooth margin of the inner layer of the cortex (i.e. the endosteum) of bones.


Palmoplantar cutis laxa

description: Loose, wrinkled skin of hands and feet.


Waxy casts

description: A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts.


Kinked brainstem

description: A kinked appearance of the brainstem, i.e., an exaggerated flexure.


name: Diffusely thickened glomerular basement membrane

description: Prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals.


Abnormal amygdala morphology

description: A structural anomaly of the amygdala.


aneurysmal bone cyst

description: A locally aggressive and destructive benign cystic lesion of the bone. It is characterized by the formation of multiloculated hemorrhagic cystic spaces which are separated by fibrous septa. It can arise from any bone, but usually affects the metaphysis of long bones. It manifests with pain and swelling and may recur following curettage.


Facial neoplasm

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


Cerebellar vermis hypoplasia

description: Underdevelopment of the vermis of cerebellum.


Submucous cleft soft palate

description: A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue.


Cone-shaped epiphyses of the 4th finger

description: A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.


Septate gallbladder

description: Septate gallbladder is characterized by the presence of a septum that divides the gallbladder in two chambers. When the septum dividing the gallbladder lies longitudinally it is called bilobed gallbladder and when there is a transverse septum separating the fundus from the rest of the gallbladder it is called an hour-glass gallbladder.


name: Abnormality of the epiphyses of the 5th toe


name: Confluent hypointensity of cerebral white matter on MRI


name: Ivory epiphysis of the distal phalanx of the 2nd finger

description: Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Delayed talus ossification

description: Delayed maturation and calcification of the talus.


Patchy sclerosis of 4th finger phalanx

description: Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger.


enthesitis

description: Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone.


Cortical sclerosis

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


description: Neonatal bilateral symmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs symmetrically at both sides of the body.


Meromelia

description: Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot.


Spinal hypomyelination

description: Reduced amount of myelin in the spinal cord resulting from defective myelinogenesis.


Abnormality of the anus

description: Abnormality of the anal canal.


porencephaly

description: Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric gray matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly.


name: Stippling of the epiphysis of the proximal phalanx of the hallux

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the hallux.


Abnormal cartilage morphology

description: Any morphological abnormality of cartilage.


Hamartomatous stomach polyps

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


Hypervigilance

description: A heightened alertness is characterized by a broad awareness and/or excessive scanning of environmental stimuli.


Serpiginous crus of helix

description: Curving course of the crus of the helix, approaching or joining the antitragus.


Podocyte foot process effacement

description: An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier.


name: Aplasia/Hypoplasia of the 4th metacarpal

description: Aplasia or Hypoplasia affecting the 4th metacarpal.


Echogenic intracardiac focus

description: A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart.


Podocyte hypertrophy

description: Increased visceral epithelial cell size, with or without cytoplasmic protein droplets.


name: Delayed ossification of the trapezoid bone

description: Formation of bone tissue of trapezoid is less than expected for age.


Abnormality of acid-base homeostasis

description: An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH.


Tubulointerstitial fungal infiltration

description: Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains.


name: Fractured proximal epiphysis of middle phalanx of manual digit 3

description: A partial or complete breakage of the proximal epiphysis of middle phalanx of manual digit 3.


name: Decreased specific antibody response to vaccination

description: A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination.


Distal upper limb amyotrophy

description: Muscular atrophy of distal arm muscles.


Intracranial arterial calcification

description: An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial).


Anti-Tr/DNER antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Tr/DNER. Anti-Tr antibodies are directed against cerebellar Purkinje cells (termed anti-Tr or PCA-Tr). Anti-Tr autoantibodies are frequently associated with Hodgkin lymphoma (HL). Anti-Tr antibodies are defined by a specific staining pattern in cerebellar tissue that is characterized by punctate immunoreactivity in both the dendritic tree and soma of Purkinje cells but not in their axons. This characteristic pattern is indicative of the presence of anti-Tr antibodies. The Delta/Notch-like epidermal growth factor-related receptor (DNER) was identified as the target antigen of anti-Tr.


Abnormal thalamic size

description: Deviation from the normal range of size of the thalamus.


name: Triangular epiphysis of the proximal phalanx of the 2nd finger


Bracket epiphyses of the 4th finger

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


Ski jump nail

description: Nails that slope upward at the free edge.


Premature occlusive vascular stenosis

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


Abnormal ductus choledochus morphology

description: An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder.


Abnormal plantar dermatoglyphics

description: An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot.


Steppage gait

description: An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.


Microdontia of primary teeth

description: Decreased size of the primary teeth.


Abnormal metacarpal morphology

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


name: Elevated circulating DNAJB9 protein concentration

description: Concentration of DnaJ homolog subfamily B member 9 (DNAJB9) in the blood circulation above the upper limit of normal.


Lip freckle

description: Increased focal pigmentation of the vermilion of the lips.


name: Anti-von Willebrand factor antibody positivity

description: The presence of autoantibodies in the serum that react to von Willebrand factor (VWF).


name: Focal cognitive seizure with auditory agnosia

description: A focal cognitive seizure characterized by auditory agnosia as the initial semiological manifestation. For example a person may hear a ringing sound, but may not connect this with the concept that the sound is from a telephone ringing.


Cutaneous macular amyloidosis

description: A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance.


Anti-GD1b antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside.


Hyperxanthinemia

description: An increased level of xanthine in the blood circulation.


Biliary epithelial hyperplasia

description: Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen.


Intralobar nephroblastomatosis

description: Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it).


name: Febrile seizure outside the age of 3 months to 6 years

description: Any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38.0 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in people beyond the typical arrange of 3 months-6 years with no prior history of afebrile seizure.


Abnormal glucose homeostasis

description: Abnormality of glucose homeostasis.


Delayed onset bleeding

description: Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours.


Abnormal circulating estrogen level

description: A deviation from normal concentration of the hormone estrogen in the blood circulation.


Lingual dystonia

description: Involuntary protrusions, movements, spams and contortions of the tongue.


name: Blunted aldosterone response to aldosterone suppression test

description: A non-suppressible aldosterone excess, defined as an abnormal result of one of any four suppression tests. These tests use oral sodium loading, oral fludrocortisone, oral captopril, or saline infusion to suppress aldosterone secretion.


Basal ganglia edema

description: Swelling within the basal ganglia due to the accumulation of fluid.


Foot oligodactyly

description: A developmental defect resulting in the presence of fewer than the normal number of toes.


Abnormal hindbrain morphology

description: An abnormality of the hindbrain, also known as the rhombencephalon.


name: Absent epiphyses of the phalanges of the hand

description: Absence of one or more epiphyses of the phalanges of the fingers.


Abnormal lower lip morphology

description: An abnormality of the lower lip.


Abnormality of the sense of smell

description: An anomaly in the ability to perceive and distinguish scents (odors).


Fractured fused sacrum

description: A partial or complete breakage of the fused sacrum.


Subclavian artery stenosis

description: Abnormal narrowing of the subclavian artery.


name: High renal tubular epithelial cell N/C ratio

description: At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei.


Disseminated cutaneous warts

description: Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities.


Elevated cancer Ag 19-9 level

description: An abnormal increased in the amount of the carbohydrate antigen 19-9, a recognizable sialo-ganglioside in the blood circulation.