Decreased circulating free T3

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


aortic valve atresia

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

description: A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure.


Increased factor VIII activity

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

description: Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.


Unilateral renal dysplasia

description: A unilateral form of developmental dysplasia of the kidney.


Myoclonic status epilepticus

description: A type of motor status epilepticus with repeating bilateral sudden brief (less than 100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography.


name: Decreased phytanic acid:pristanic acid ratio

description: A reduction below the normal ratio of blood phytanic acid concentration to pristanic acid concentration.


name: Reduced beta-mannosidase activity in cultured fibroblasts

description: Concentration or activity of beta-mannosidase (EC 3.2.1.25) as measured in cultured fibroblasts is below the limits of normal.


Increased intervertebral space

description: An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disk space.


Acholic stools

description: Clay colored stools lacking bile pigment.


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

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


name: Premature epimetaphyseal fusion in fibula

description: Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.


Aplasia/Hypoplasia of the ovary

description: Aplasia or developmental hypoplasia of the ovary.


Alpha-EEG

description: EEG dominated by diffuse alpha-waves (8-13Hz).


name: Fragmentation of the epiphysis of the distal phalanx of the 5th finger

description: Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger.


Abnormal systemic blood pressure

description: A chronic deviation from normal pressure in the systemic arterial system.


Incisional hernia

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


Cutaneous horn

description: A cutaneous horn is a keratinized non-malignant protrusion on the surface of the skin. Diagnosis is established by biopsy of the horn and biopsy of the horn and the underlying skin.


Abnormal nervous system physiology

description: A functional anomaly of the nervous system.


name: Decreased fucosylation of O-linked protein glycosylation

description: A reduction of the addition of fucose sugar units to O-linked glycans.


name: Glomerular subepithelial immune-complex deposits

description: A type of glomerular subepithelial deposit characterized by finely granular material deposited between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM and corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).


name: Abnormal brain positron emission tomography

description: A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain.


Abnormal Z disk morphology

description: Any structural anomaly of the Z disk, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached.


Reduced production of gestures

description: Diminished use of typical non-verbal conversational gestures such as shaking the head to indicate no or nodding the head to indicate yes.


Keratan sulfate excretion in urine

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


name: Decreased delta-aminolevulinate dehydratase activity

description: Reduced activity of the enzyme delta-aminolevulinate dehydratase. The enzyme is active in erythrocytes.


Abnormal vertebral epiphysis morphology

description: An anomaly of one or more epiphyses of one or more vertebrae.


Insulin receptor antibody positivity

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


Increased CSF lysine concentration

description: Abnormally increased levels of lysine in cerebrospinal fluid.


Coronary artery sandwich anomaly

description: Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva, with the additional feature that the artery passes between the two great arteries. This carries a risk of the artery being compressed by these two vessels,


High serum calcitriol

description: An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.


Part-solid pulmonary nodule

description: Part-solid pulmonary nodules are nodules that present with both ground-glass and solid components in which the underlying lung architecture cannot be visualized.


Aplasia/Hypoplasia of the nasal septum

description: Absence or underdevelopment of the nasal septum.


Abnormal leukocyte physiology

description: A functional abnormality of a white blood cell.


Right unilambdoid synostosis

description: Premature synostosis of only the right lambdoid suture.


Broad long bone diaphyses

description: Increased width of the diaphysis of long bones.


name: Moderate sensorineural hearing impairment

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


Pretibial dimple

description: A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lengthen as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg.


Periarticular subcutaneous nodules

description: Subcutaneous nodules that are located in the vicinity of joints.


Lower extremity joint dislocation

description: Displacement or malalignment of one or more joints in the lower extremity (leg).


epignathus

description: Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period.


Superior pectus carinatum

description: Pectus carinatum affecting primarily the superior part of the sternum.


Sparse pubic hair

description: Reduced number or density of pubic hair.


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

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


Abnormal clavicle morphology

description: Any abnormality of the clavicles (collar bones).


Epiphyseal stippling of the humerus

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


Absent vestibular function

description: Complete lack of functioning of the vestibular apparatus.


name: Agenesis of primary mandibular lateral incisor


Missing ribs

description: A developmental anomaly with absence of one or more ribs.


name: Abnormality of the epiphysis of the 1st metatarsal

description: In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the epiphysis of the first metatarsal bone.


name: Deep dermal perivascular inflammatory infiltrate

description: Numerous lymphocytes surrounding blood vessels in the deep part of the dermis.


Past medical history

description: In a medical encounter, the physician generally will interview the patient about his or her current problem, and may perform additional testing. The past medical history (PMH) in contrast records information about the patient's medical, personal and family history that might be relevant to the presenting illness or to provide optimal clinical management. The PMH generally includes (if relevant) other major illnesses, hospitalizations, surgeries, injuries, allergies, gynecologic and obstetric history, family history, personal history including occupational history, alcohol and drug use, etc.


pineal parenchymal cell neoplasm

description: A neoplasm arising from the pineocyte, a cell with photosensory and neuroendocrine functions. It may be composed of mature elements or primitive, immature cells. The cellular composition determines the biological behavior and clinical outcome. Three types are recognized: pineoblastoma, pineocytoma, and pineal parenchymal tumor of intermediate differentiation (Adapted from WHO.)


omphalocele

description: Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.


Ventricular septal hypertrophy

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


Sleep drunkeness

description: Sleep drunkenness refers to the prolonged and pronounced difficulty with awakening from nocturnal sleep and daytime naps. This symptom should be distinguished from the milder and physiologic state of sleep inertia seen even in healthy controls .


name: Elevated alkaline phosphatase of bone origin

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


Reduced social insight

description: A lack of awareness of social rules in multiple social settings, which are simple or intuitive to others in the same social setting.


Retarded ejaculation

description: Difficulty of a male in achieving orgasm.


Pleural plaque

description: Deposits of hyalinized collagen fibers in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs).


Elevated CSF proline concentration

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


Thyroidization-type tubular atrophy

description: A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts.


Acellular urinary casts

description: A type of urinary cast composed of a proteinaceous matrix without a substantial number of cells.


Persistent repetition of sounds

description: Repetition of sounds with no meaning.


Short metatarsal

description: Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.


Abnormal vena cava physiology

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


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

description: Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms.


name: Stenosis of the medullary cavity of the long bones


name: Abnormal fetal cardiovascular morphology

description: A structural abnormality of the fetal circulation system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.


Decreased adiponectin level

description: A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.


name: Aplasia/Hypoplasia of the cerebral white matter

description: Absence or underdevelopment of the cerebral white matter.


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


Increased circulating oleate level

description: An abnormally high concentration of oleic acid (oleate) in the blood circulation.


Anisospondyly

description: Abnormally increased variability of the size of the vertebral bodies.


Abnormal meniscus morphology

description: Abnormal structure of the meniscus of the knee, two crescent shape fibrocartilaginous pads that disperse the weight of the body and reduce friction of the knee joint during movement.


Aorto-left ventricular tunnel

description: Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left or right ventricular cavity.


name: Increased circulating corticosterone level

description: An abnormally elevated concentration of corticosterone in the blood.


Abnormality of palatopharyngeus muscle

description: An abnormality of a palatopharyngeus muscle.


Pulmonary valve atresia

description: A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop.


name: Abnormal muscle succinate dehydrogenase staining

description: Any deviation from the normal amount of staining of succinate dehydrogenase in skeletal muscle tissue.


name: Renal tubular epithelial cell cytoplasmic vacuolization

description: Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size.


Impaired oropharyngeal swallow response

description: Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars.


Copper beaten skull

description: Diffuse prominent gyral impressions on the inner table of skull vault said to resemble beaten copper.


name: EEG with generalized slow activity grade 2

description: Generalized slowing of EEG activity at frequencies between 4-7 Hz.


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

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


name: Duplication of the middle phalanx of the 5th finger

description: Partial or complete duplication of the fifth middle phalanx of hand.


Hallux varus

description: Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially.


Hyperasparaginemia

description: An increased amount of asparagine in the blood.


Upper extremity hypokinesia

description: Abnormally diminished movement of the upper extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.


name: Abnormal circulating globulin concentration

description: An abnormal concentration of globulins in the blood. Albumin makes up more than half of the total protein present in serum. The remaining blood proteins except albumin and fibrinogen (which is not in serum) are referred to as globulins. The globulin fraction includes hundreds of serum proteins including carrier proteins, enzymes, complement, and immunoglobulins. Most of these are synthesized in the liver, although the immunoglobulins are synthesized by plasma cells. Globulins are divided into four groups by electrophoresis. The four fractions are alpha1, alpha2, beta and gamma, depending on their migratory pattern between the anode and the cathode.


Hypoplasia of the primary teeth

description: Developmental hypoplasia of the primary teeth.


Exaggerated cupid's bow

description: More pronounced paramedian peaks and median notch of the Cupid's bow.


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


name: Abnormality of musculature of soft palate

description: An abnormality of one or more of the five muscles of the soft palate.


name: Impaired vibration sensation in the lower limbs

description: A decrease in the ability to perceive vibration in the legs.


Anti-D2 R antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dopamine-2 receptor.


name: Resistance to trivial environmental changes

description: Distress in response to minor changes in one's environmental expectations.


name: Anomalous origin of the circumflex artery from the right sinus of Valsalva

description: The circumflex coronary artery originates from the right aortic sinus of Valsalva.


Low back pain

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


Aplasia/Hypoplasia of the spleen

description: Absence or underdevelopment of the spleen.


Compression-fractured thoracic vertebra

description: A fracture of the thoracic vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.


name: Low urinary cyclic AMP response to PTH administration


Dilation of Virchow-Robin spaces

description: Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery.


Livedo

description: A reddish-blue mottled condition of skin caused by inflammation of the cutaneous blood vessels.


Abnormal hypothalamus physiology

description: An abnormal functionality of the hypothalamus.


name: Elevated circulating suberic acid concentration

description: An increased concentration of suberic acid in the blood circulation. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane.


name: Abnormality of the pancreatic islet cells

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


name: Defective production of NFKB1-dependent cytokines

description: An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha.


Malaise

description: A feeling of general discomfort, weakness, or lack of health.


name: Deficient excision of UV-induced pyrimidine dimers in DNA


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

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


name: internal carotid arteries, hypoplasia of


name: Restricted or repetitive behaviors or interests

description: A broad range of compulsive behaviors are repeated, including simple motor stereotypies and tics, as well as more complex repetitive movements or compulsions.


Impaired distal tactile sensation

description: A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.


Absent epiphyses of the 3rd finger

description: Absence of the epiphyses of the 3rd finger.


Abnormal urine chloride concentration

description: An abnormal concentration of chloride in the urine.


Poorly ossified vertebrae

description: Decreased ossification of the vertebral bodies.


Abnormal astrocyte morphology

description: An abnormality of astrocytes.


name: Elevated circulating arabinitol concentration

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


Bilingual aphasia

description: The term bilingual aphasia is used to refer to aphasia in persons who speak two or more languages. When a multilingual speaker has aphasia following a stroke, the languages spoken premorbidly may show comparable or differential patterns of impairment. Differential patterns may manifest as greater impairment in one language compared to another, or as differences in the characteristics of aphasia. Clinical reports of bilingual aphasia show dissociations in the processing of the language learned first (L1) and and second (L2), with one language more impaired than the other. Other cases show a pattern of differential recovery where L2 is recovered only after L1. Another pattern is alternating antagonism; i.e., patients access one language in spontaneous speech and inhibit the other language for alternating periods. This term should be used for a type of aphasia in a person who speaks multiple languages in which the impairment is different for different languages.


name: Impaired convulxin-induced platelet aggregation

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


Cavitating pulmonary nodule

description: Thick-walled abnormal gas-filled interstitial nodule within a lung.


Forearm pronation contracture

description: A contracture that limits the ability of the forearm to stabilize the hand in supiation (supination refers to a rotation of the forearm that causes the palm and forearm to face upwards), meaning that the palm is fixed in a downward orientation. Restriction of supination/pronation can occur at the elbow (radial-humeral joint), at the wrist (radial-ulnar joint), and anywhere in between.


name: Contracture of the tarsometatarsal joint of the hallux

description: Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc's joints.


Systolic heart murmur

description: A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2.


EEG with frontal sharp slow waves

description: EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.


Peripheral neuroepithelioma

description: A neuroblastoma arising from the peripheral nervous system.


name: Hyperpolarized transepithelial nasal potential difference

description: Increased (more negative) voltage across the nasal epithelium.


Dysgyria with normal cortical thickness

description: An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation but with a normal thickness of the cortex.


2-5 finger syndactyly

description: Syndactyly with fusion of fingers two to five.


description: Neonatal electro-clinical clonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups; it can be symmetric or asymmetric.


Bloodstream trypomastigotes

description: Presence of trypomastigote parasites in the blood stream. This finding can be demonstrated by the identification of trypomastigote parasites on peripheral blood smear.


Ragged cuticle

description: The cuticle (properly known as the eponychium, or the medial nail fold or the proximal nail fold), is the thickened layer of skin surrounding fingernails and toenails. Its function is to protect the area between the nail and epidermis from exposure to bacteria. This term refers to the presence of and irregular edge or outline of the cuticle.


Shagreen patch

description: A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled. The word shagreen refers to a type of roughened untanned leather.


name: Abnormal circulating creatine kinase concentration

description: Any deviation from the normal circulating creatine kinase concentration.


Long toe

description: Toes that appear disproportionately long compared to the foot.


Asymmetry of the ears

description: An asymmetriy, i.e., difference in size, shape or position between the left and right ear.


Non-secretory adrenocortical adenoma

description: An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones.


name: Altered location of the longitudinal column in the fibrous sheath

description: The fibrous sheath is a structure in the midpiece of the sperm flagellum surrounding the outer dense fibers. It comprises two longitudinal columns and tranverse ribs. In case of altered location of the longitudinal column in the fibrous sheath the symmetrical structure is lost, most commonly with the columns not being opposite to each other, which can be visualized by electron microscopy.


name: Subluxation of metacarpal phalangeal joints

description: A partial dislocation affecting some or all of the metacarpophalangeal joints.


Vertebral artery tortuosity

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


Abnormal urinary pyrimidine level

description: Any deviation from the normal amount of a pyrimidine compound in the urine. Pyrimidines and pyrimidine derivatives are compounds containing a pyrimidne ring, which is a six-member aromatic heterocycle which consists of two nitrogen atoms (at positions 1 and 3) and four carbon atoms. The nucleotides cytosine, thymine and uracil are pyrimidines.


name: Increased density of long bone diaphyses


Spina bifida occulta at L5

description: The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin.


name: Abnormality of the fifth metatarsal bone

description: An anomaly of the fifth metatarsal bone.


Purulent drainage from Stensen duct

description: Flow of pus (purulence) from the Stensen duct. The Stensen duct is also known as the parotid duct and is the route that saliva takes from the major salivary gland (parotid gland) to the mouth.


Intratubular erythrocyte cast

description: Casts that contain red blood cells and are located within the tubuli of the kidney.


Duplication of phalanx of 4th finger

description: This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.


Trichilemmoma

description: A benign tumor originating from the outer root sheath of the hair follicle.


Parathyroid dysgenesis

description: Abnormal embryonic development of the parathyroid gland.


Dental malocclusion

description: Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.


Paucity of peroxisomes

description: Reduced number of observable peroxisomes per cell. This feature can be observed by immunohistochemical staining of cultured cells (such as fibroblasts) or by electronmicroscopy.


name: Ivory epiphysis of the middle phalanx of the 3rd finger

description: Sclerosis of the epiphysis of the middle phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


name: Renal arteriole intimal/medial multilamellation

description: Myointimal hyperplasia arranged in multiple concentric layers in the inner or middle layer of the arterioles of the kidney.


Abnormal ventricular septum morphology

description: A structural abnormality of the interventricular septum.


name: Irregular epiphysis of the 1st metacarpal

description: Uneven radiographic opacity of the epiphysis of the 1st metacarpal.


Fusion of middle ear ossicles

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


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


Poor wound healing

description: A reduced ability to heal cutaneous wounds.


name: Elevated urinary 3-methylcrotonylglycine level

description: An abnormally increased amount of 3-methylcrotonylglycine in the urine.


Hypopigmented macule

description: A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation.


name: Abnormal response to ACTH stimulation test

description: An anomolous response to stimulation by adminstration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline.


Sclerosis of finger phalanx

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


name: Type 1 fibers relatively smaller than type 2 fibers

description: The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers.


Decreased CSF copper concentration

description: Concentration of copper in the cerebrospinal fluid (CSF) below the lower limit of normal.


name: Congenital conductive hearing impairment

description: A type of conductive deafness with congenital onset.


Suprasellar arachnoid cyst

description: An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards.


Limited pointing

description: Absence or reduction in the use of pointing to request or direct another's attention.


Sleep onset rapid eye movement period

description: Entering REM sleep immediately upon falling asleep.


Piezogenic pedal papules

description: Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum.


Dermal papillary IgA deposition

description: Accumulation of immunoglobulin A (IgA) surrounding dermal papillae, which are specialized cells that support the hair follicle.


Fecolith

description: A mass of accumulated hardened fecal matter.


name: Distal/middle symphalangism of 4th finger

description: Fusion of the terminal/distal and middle phalanges of the 4th finger.


isolated oxycephaly

description: Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull.


Abnormality of the humerus

description: An abnormality of the humerus (i.e., upper arm bone).


Intrahepatic bile duct dilatation

description: Increased diameter (caliber) of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts).


Increased pineal volume

description: An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland.


Filum terminale lipoma

description: Filum terminale lipomas (FTLs) are a type of lumbosacral lipoma in which the fat is entirely within the filum terminale and separate from the conus medullaris.


Opacified paranasal sinuses

description: White appearance (radio-opaqueness) of a paranasal sinus on radiography.


Abnormality of buccinator muscle

description: An abnormality of a buccinator muscle.


Neck pain

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


mucocele of salivary gland

description: A benign cyst located in the salivary gland that is lined by epithelium and filled with mucoid fluid, tissue, or other material; it is usually caused by duct obstruction.


Osteosclerosis of the base of the skull

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


Cavitating leukodystrophy

description: A type of leukodystrophy characterized by multiple small cavitations typically in the periventricular and deep cerebral white matter. The cavitations are visible as a central cavity with cerebrospinal fluid-like signal intensity.


name: Focal aware sensory seizure with auditory features

description: A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure.


Cardiomyocyte hyaline bodies

description: Subsarcolemmal, eosinophilic glass-like regions within the cytoplasm of cardiomyocytes.


EEG with diffuse acceleration

description: EEG frequency is abnormally increased.


Focal sensory seizure

description: A focal sensory seizure is a type seizure beginning with a subjective sensation.


name: Abnormal proportion of CD4+ effector memory cells

description: An abnormal proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.


name: Abnormality of the musculature of the hand


name: Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity

description: Concentration or activity of N-sulfoglucosamine sulfohydrolase as measured in leukocytes is below the limits of normal.


Dysgenesis of the thalamus

description: Structural abnormality of the thalamus related to defective development.


name: Abnormal placental adhesion into the uterine wall

description: Abnormal placental adhesion is characterized by an anomalous adherence of the placenta to the uterine wall. Based on the degree of adhesion, placental invasion can be classified into accreta, increta, or percreta.


Short phalanx of the 4th toe

description: Developmental hypoplasia of one or more phalanx of fourth toe.


Ventouse delivery

description: Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labor has not progressed adequately.


thumbs, congenital Clasped

description: In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.


name: Focal impaired awareness emotional seizure with pleasure

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


name: Fusiform ascending tubular aorta aneurysm

description: A concentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves the full circumference of the vessel wall.


Broad chin

description: Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue.


name: Fragmentation of the epiphysis of the 1st metatarsal


name: Unesterified cholesterol accumulation in cultured fibroblasts

description: An abnormal result of the the filipin test. In this test is based on the reaction of unesterified cholesterol with fluorescent antibiotic filipin giving a strongly fluorescent, stable cholesterol-filipin complex suitable for in situ detection. An abnormal test result is present if there is a perinuclear accumulation of staining in lysosomal storage organelles (LSOs).


Abnormal experience of reality

description: Subjective phenomena or perceptions that deviate from what is considered correct or are outside the range of normal human experiences.


name: Aplasia/Hypoplasia of the middle phalanx of the 4th toe


Abnormal urine magnesium concentration

description: An abnormal concentration of magnesium the urine.


Thin corpus callosum

description: An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).


Mediastinal shift

description: A deviation of the mediastinum from its normal position in the midline of the thoracic cavity. The mediastinum is a compartment of the thoracic cavity that contains the heart and its blood vessels, the esophagus, trachea, thymus, as well as nerves and lymph nodes.


name: Avoidance of stimuli associated with traumatic event

description: Avoidance of or efforts to avoid distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s). Avoidance of or efforts to avoid external reminders (people, places, conversations, activities, objects, situations) that arouse distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s).


Absent posterior alpha rhythm

description: Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above.


name: Abnormal circulating polysaccharide concentration

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


Predominantly lower limb lymphedema

description: Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs.


Two-raphe bicuspid aortic valve

description: A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis.


Increased oocyte death

description: An increase in death of oocytes, the female germ cell (egg cell), which can be observed clinically in the setting of in vitro fertilization.


Anti-Ma2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma2.


Venous malformation of the lip

description: A vascular malformation located in the lip that is related to abnormal vascular morphogenesis.


Aortic smooth muscle cell nuclei loss

description: A region of the aortic media in which smooth muscle cell nuclei, involving multiple lamellae, are not clearly identifiable on an hematoxylin and eosin stain.


Increased C-peptide level

description: An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion.


Abnormal renal calyx morphology

description: Any abnormality of the morphology of the major calices or minor calices of the kidney.


name: Symphalangism affecting the middle phalanx of the 4th toe


Protuberant abdomen

description: A thrusting or bulging out of the abdomen.


Abnormality of fontanelles

description: An abnormality of the fontanelle.


Argininuria

description: A increased concentration of arginine in the urine.


Abnormal nasal cavity morphology

description: Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures).


Low-set ears

description: Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.


familial supernumerary nipples

description: Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported.


name: Abnormal renal tubular epithelial morphology

description: Any structural anomaly of the renal tubular epithelial cells (RTEC), a layer of cells in the outer layer of the renal tubule. These cells play a role in the absorption of substances such as glucose and amino from the primary urine.


Total absence of the pericardium

description: No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy.


name: Abnormal cortical radial artery lumen morphology

description: Abnormal structural characteristics of the interior space of the cortical radial arteries of the kidney.


Focal cortical dysplasia type I

description: A type of focal cortical dysplasia that is characterized by abnormal cortical layering.


Hand apraxia

description: Inability to perform purposeful (learned) movements with the hand upon command, even though the command is understood and there is a willingness to perform the movement. Hand apraxia includes the inability to grasp, pick up, and hold large and small objects.


name: Patchy sclerosis of distal phalanx of finger

description: Uneven (irregular) increase in bone density of the distal phalanges of the hand.


name: Abnormal inferior alveolar artery morphology

description: An abnormality of an inferior alveolar artery.


Phonic tics

description: Tics are defined as movements or sounds that resemble physiological motor behaviors, but are typically inopportune to social context and appear sudden, repetitive, and often exaggerated. Tic vocalizations commonly termed vocal or phonic tics may include any possible sound (eg, sniffing, coughing, throat clearing, whistling, or grunting), word, or sentence and are most commonly encountered within the spectrum of primary tic disorders, as Tourette syndrome.


Decreased urinary hypoxanthine level

description: The concentration of hypoxanthine in the urine, normalized for urine concentration, is below the lower limit of normal.


Premature sternal synostosis

description: Prematurely closed sternal sutures.


Progressive gait ataxia

description: A type of gait ataxia displaying progression of clinical severity.


Abnormal central sensory function

description: An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord.


carbuncle

description: An infection of cutaneous and subcutaneous tissue that consists of a cluster of boils. Commonly, the causative agent is staphylococcus aureus. Carbuncles produce fever, leukocytosis, extreme pain, and prostration.


Elevated leukocyte cystine

description: An increased concentration of cystine within white blood cells.


Muscle flaccidity

description: A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation.


hypoplastic right heart syndrome

description: Hypoplastic right-heart syndrome (HRHS) is a rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type. Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia.


Abnormality of humoral immunity

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


Hypotryptophanemia

description: A decreased amount of tryptophan in the blood.


Yellow nodule

description: A type of skin nodule (a lesions that is greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat) with a yellowish coloration (that reflects a high lipid content of the lesion).


name: Chronic partially decreased circulating IgG2

description: A lasting limited decrease of immunoglobulin G2 (IgG2) in the blood.


Elevated urine arabitol level

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


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


Positive gastric fluid barbiturate test

description: Detection of barbiturate metabolites such as phenobarbital in the gastric fluid.


Congenital alopecia totalis

description: Loss of all scalp hair with congenital onset.


name: Insulin-dependent but ketosis-resistant diabetes

description: Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin.


Vascular tortuosity

description: Abnormal twisting of arteries or veins.


Reduced muscle fiber alpha dystroglycan

description: Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly.


Fractured left clavicle

description: A partial or complete breakage of the left clavicle.


name: Positive urine infectious agent nucleic acid test

description: Detection of DNA and RNA originating from an infectious agent (bacteria, viruses, parasites and fungi) in the urine.


Abnormal spinal dura mater morphology

description: An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord.


Irregular patellae

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


name: Abnormal circulating biopterin concentration

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


Ileoileal intussusception

description: A type of intussusception of the small intestine in which one part of the ileum invaginates (telescopes) into another part of the ileum.


Ureter duplex

description: A complete duplication of the ureter, where the duplicated ureters have separate insertions into the bladder.


craniosynostosis 4

description: Any craniosynostosis in which the cause of the disease is a mutation in the ERF gene.


Short ear

description: Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear.


Ivory epiphysis of the 1st metatarsal

description: The epiphysis of the 1st metatarsal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs.


Gingival calcification

description: Ectopic deposition of calcium salts found in the gingiva.


name: Proximal femoral metaphyseal irregularity

description: Irregularity of the normally smooth surface of the proximal metaphysis of the femur.


Disc kidney

description: A type of cross fused renal ectopia in which kidneys fuse along their medial borders.


name: Abnormal circulating B-type natriuretic peptide concentration

description: A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP).


Short lingual frenulum

description: The presence of an abnormally short lingual frenulum.


Inappropriate absence of fever

description: Failure to develop fever in the presence of an infection that normally would be expected to elicit a febrile response.


Delayed umbilical cord separation

description: Separation of the umbilical cord occurs at an abnormally late timepoint.


Frank breech presentation

description: A kind of breech presentation in which the hips are flexed and the knees are extended.


Ankle joint effusion

description: Abnormal accumulation of fluid in or around the ankle joint.


Calcaneal epiphyseal stippling

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


Absent distal phalanges

description: Aplasia (absence) of the distal phalanges.


Absent lunula

description: Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail.


Grade III vesicoureteral reflux

description: Vesicoureteral reflux with dilatation of the collecting system.


name: Elevated circulating C12 acylcarnitine concentration

description: Concentration of C12 acylcarnitines in the blood circulation above the upper limit of normal. C12 acylcarnitines have a twelve-carbon acyl chain.


Anti-TRIM9/TRIM67 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against TRIM9/TRIM67.


Hypobilirubinemia

description: Concentration of bilirubin in the blood circulation below the lower limit of normal.


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

description: A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.


Visually-induced seizure

description: Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect.


Delayed cranial suture closure

description: Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.


Abnormal cortical bone morphology

description: An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones.


Involuntary vocalization

description: Production of sound done without will or conscious control. Involuntary vocalizations include tics, stereotypies vocalizations as part of dystonia or chorea, continuous vocalizing behaviors such as groaning or grunting, pathological laughter and crying, and others.


Lamina lucida cleavage

description: The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin.


Increased adipose tissue

description: An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell).


Fetal lung hyperechogenicity

description: Increased response (echo) of lung tissue of a fetus observed on prenatal sonography. Increased echo response is conventially displayed as a higher degree of brightness.


name: Agenesis of primary maxillary lateral incisor

description: Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor.


Focal necrotic brainstem lesion

description: A localized area of cell death, often accompanied by infiltration of inflammatory cells, in the brainstem.


Abnormal nostril morphology

description: Abnormality of the nostril.


name: Abnormal circulating chemokine concentration

description: An abnormality in the production or cellular release of a chemokine (a class of cytokines).


name: Elevated circulating 1-methylhistidine concentration

description: An abnormally increased level of 1-methylhistidine in the blood circulation. 1-methylhistidine is a derivative of L-histidine.


Crowded maxillary incisors

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


Clinodactyly of the 2nd toe

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


Multifocal epileptiform discharges

description: An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci).


nasopharyngeal teratoma

description: A teratoma that involves the nasopharynx.


Reduced co-speech gestures

description: Reduced use of speech-integrated gestures such as the use of beat gestures.


Folate-dependent fragile site at Xq28

description: The presence of a folate sensitive fragile site at chromosome Xq28.


Reduced cell surface marker level

description: Reduced level of a protein that is normally present on the cell surface as assessed by flow cytometry.


Costochondral pain

description: Chest wall pain in the area of the costochondral junctions.


Cortical myoclonus

description: Cortical myoclonus mainly affects the distal upper limbs and face, which reflects the largest cortical representations of these body areas. It is often focal, but may be multifocal, bilateral or generalized, as a consequence of intracortical and transcallosal spreading of abnormal activity. It typically occurs on voluntary action and may affect speech and gait. Cortical myoclonic jerks are stimulus sensitive, typically to touch, but sensitivity to visual stimuli is also described. Most patients with cortical myoclonus have both positive myoclonus and NM, occurring either independently or together as a complex of the two kinds of myoclonus. If cortical myoclonus is prolonged and lasts for hours, days or weeks, it is called epilepsia partials continua and is considered to be a rare form of focal epileptic status. Focal cortical myoclonus almost always points to an underlining lesion of the sensori-motor cortex, which produces hyperexcitability (e.g. vascular, inflammatory or neoplastic).


Hypoplastic vertebral pedicle

description: Underdeveloped vertebral pedicle.


Duplicated odontoid process

description: The presence of two distinct odontoid processes. The odontoid process, also known as the dens of the axis, is a protuberance of the C2 vertebral body around which the first vertebra rotates.


Atoll sign

description: CT finding of central ground-glass opacity surrounded by denser consolidation of crescentic shape (forming more than three-fourths of a circle) or complete ring of at least 2 mm in thickness. A rare sign, it was initially reported to be specific for cryptogenic organizing pneumonia, but was subsequently described in patients with paracoccidioidomycosis.


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

description: Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger.


name: Anti-phosphatidyl inositol antibody positivity

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


Whistling appearance

description: An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling.


Irreversible airflow obstruction

description: Airflow obstruction without significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL.


Distal femoral metaphyseal irregularity

description: Irregularity of the normally smooth surface of the distal metaphysis of the femur.


Glenoid fracture

description: A fracture of the glenoid fossa, a relatively shallow dish is located on the lateral scapula and is the socket portion of the shoulder joint that meets to articulate the humeral head.


Abnormal oral physiology

description: A functional anomaly of the mouth (which is also known as the oral cavity).


Caseous vernix-like desquamation

description: Vernix caseosa is a physiological, viscous biofilm that is produced by desquamated fetal skin and sebaceous glands covering the fetus at the third trimester in-utero. The substance's gross morphology in post-partum is described by the etymology, as vernix means varnish, and caseosa means cheesy-like matter. This finding refers to an abnormally thick and greasy vernix caseosa-like scale present at birth.


Focal aware hemiclonic seizure

description: A focal hemiclonic seizure in which awareness is retained throughout.


Pre-capillary pulmonary hypertension

description: Pre-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg).


Prominent tragus

description: Increase posterolateral protrusion of the tragus.


presbycusis

description: Bilateral hearing loss caused by progressive degeneration of cochlear structures and central auditory pathways, typically associated with the aging process.


name: Absent peripheral lymph nodes in presence of infection

description: The absence of any palpable lymph nodes in the presence of symptoms suggesting infection in that drainage area should raise suspicion for immunodeficiency diseases.


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

description: Partial duplication of middle phalanx of second toe.


Thickened ears

description: Increased thickness of the external ear.


Dark cerumen

description: Abnormally dark color of cerumen (earwax), which is a waxy substance secreted in the ear canal that normally has a brown, orange, red, yellowish or gray.


Type III truncus arteriosus

description: Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta.


Tortuous lymphatic vessels

description: The presence of an increased number of twists and turns of lymphatic vessels.


name: Elevated circulating S-adenosyl methionine concentration

description: Concentration of S-adenosyl methionine (SAM) in the blood circulation above the upper limit of normal. SAM is a cosubstrate involved in methyl group transfers, transsulfuration, and aminopropylation.


Fractured thoracic vertebra

description: A partial or complete breakage of the thoracic vertebra.


Rib exostoses

description: Multiple circumscribed bony excrescences located in the ribs.


Spatulate ribs

description: Ribs that are increased in width and taper to the posterior ends.


Patchy sclerosis of the 1st metacarpal

description: Uneven increase in bone density within the 1st metacarpal.


name: Focal impaired awareness cognitive seizure with anomia

description: A focal cognitive seizure with anomia characterized by impairment of awareness at some point during the seizure.


Curved dental root

description: A root of a tooth that is more rounded than normal.


Abnormality of galactoside metabolism

description: Abnormality of galactoside metabolism. A galactoside is a glycoside (a sugar moiety bound to some other moiety) containing galactose.


Metaphyseal widening

description: Abnormal widening of the metaphyseal regions of long bones.


name: Partial duplication of the phalanges of the 4th finger

description: A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 4th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.


name: Abnormality of the phalanges of the 3rd toe


Steep acetabular roof

description: An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance.


nevus of Ota

description: Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus.


name: Respiratory failure requiring assisted ventilation

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


Prominent fingertip pads

description: A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist.


Ectopic ossification in muscle tissue

description: Formation of abnormal bony tissue within muscle tissue.


Broad inferior crus of antihelix

description: Increased width of the inferred cross-section of the inferior crus.


cervix endometriosis

description: Endometriosis that affects the cervix. Most patients are asymptomatic. Some patients may present with recurrent minimal uterine bleeding.


Hyperserinemia

description: An increased amount of serine in the blood.


Elevated urinary N-butyrylglycine

description: An increased level of N-butyrylglycine in the urine.


name: Combined cystic and ground-glass pattern on pulmonary HRCT

description: Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography,


Hemoperitoneum

description: Accumulation of blood in the peritoneal cavity owing to internal hemorrhage.


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


Abnormal affect

description: Abnormalities in the intensity, frequency, or duration of observable and expressed emotions.


Wide cranial sutures

description: An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure).


Cerebral white matter atrophy

description: The presence of atrophy (wasting) of the cerebral white matter.


Upper limb asymmetry

description: Difference in length or size between the right and left arm.


Hypnopompic sleep paralysis

description: Sleep paralysis that occurs when waking up from sleep.


Sclerosis of middle finger phalanx

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


Positive Phalen test

description: The Phalen maneuver is performed by having the patient hold both wrists in complete and forced flexion (pushing the dorsal surfaces of both hands together) for 30-60 seconds. This can increase the pressure in the carpal tunnel. The test is positive (abnormal) if the patient experiences characteristic symptoms of carpal tunnel syndrome (pain and paresthesias along the distribution of the median nerve, i.e., thumb, index finger, and middle finger).


Proximal femoral focal deficiency

description: Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb.


Osteolysis of talus

description: Osteolysis affecting the talus.


macrodactyly of fingers

description: A type of Macrodactyly affecting one or several fingers.


Decreased circulating IgG2 level

description: A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation.


name: Positive bloodstream nucleic acid pathogen test

description: Positive (abnormal) result of a test such as polymerase chain reaction that is targeted against a nucleic acid sequence specific for a pathogen.


Isomerism

description: Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other.


Wide pubic symphysis

description: Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones.


Abnormal intramembranous ossification

description: An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed.


Widened interpedicular distance

description: An increase in the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.


Structural foot deformity

description: A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies.


Mediastinal mass

description: A mass in the mediastinum seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics).


name: Abnormality of the proximal radial epiphysis

description: Any abnormality of the proximal epiphysis of the radius.


Abnormality of dermal melanosomes

description: An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis).


name: Anti-angiotensin receptor type-1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin receptor type-1.


name: Anterior displacement of the papillary muscles

description: Abnormally anterior location of the papillary muscles of the left ventricle.


Pulmonary arterial atherosclerosis

description: Accumulation of lipids and inflammatory cells along the inner walls of the pulmonary artery.


name: Contracture of the proximal interphalangeal joint of the 5th finger

description: Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.


name: Contracture of the distal interphalangeal joint of the 2nd finger

description: Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue.


name: Positive bloodstream virus-specific antibody positivity

description: The presence of antibodies in the blood circulation that react against a virus.


name: Abnormality of the vitamin B3 metabolism


Retroperitoneal mass

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


name: Aplasia/Hypoplasia of the middle phalanx of the 5th finger

description: Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger.


Abnormality of external jugular vein

description: An abnormality of an external jugular vein of the neck.


Subcutaneous calcification

description: Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument).


name: Abnormal distal phalanx morphology of finger

description: Any anomaly of distal phalanx of finger.


Ankle pain

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


Decreased fumarate hydratase activity

description: An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity.


Onycholysis of distal fingernails

description: Detachment of the distal fingernails from the nail bed.


Inguinal freckling

description: The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.


Macrodontia

description: Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth.


Increased level of D-threitol in urine

description: An increase in the level of D-threitol in the urine.


Short distal phalanx of the thumb

description: Hypoplastic (short) distal phalanx of the thumb.


Abnormal muscle fiber lamin A/C

description: A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation.


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

description: Complete duplication of the middle phalanx of index finger.


C1-C2 subluxation

description: A partial dislocation of the atlantoaxial joints.


Glomerular crescent formation

description: Glomerular crescent refers hyperplastic lesions involving 10% or more of the circumference of Bowman's capsule. Crescents can be composed of a variable mixture of epithelial/leukocyte hypercellularity, fibrous matrix, and fibrin.


Short proximal phalanx of the 4th toe

description: Developmental hypoplasia of the proximal phalanx of fourth toe.


Fungi allergy

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


Short 4th finger

description: Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger.


Polymelia

description: Polymelia is a congenital anomaly, which is defined as the presence of accessory limbs attached to various body regions and could be classified as cephalomelia (extra-limb attached to the head), notomelia (extra-limb attached to the back bone), thoracomelia (extra-limb attached to the thorax), and pyromelia (extra-limb attached to the pelvis).


name: Increased myocardial pyrophosphate uptake

description: Amount of pyrophosphate uptake by the myocardium as demonstrated by by technetium pyrophosphate (99mTc-PYP) scintigraphy above the upper limit of normal.


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

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


Paraspinal hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the paraspinal muscular region, the muscles next to the spine.


Elevated jugular venous pressure

description: Increased jugular venous pressure.


name: Mottled pigmentation of the trunk and proximal extremities


Autophagia

description: The habitual action of inflicting pain upon oneself by biting and/or devouring portions of one's body.


Gallbladder adhesions

description: Strands of scar tissue bands of scar tissue that form an abnormal connection between the gallbladder and another abdominal structure. Adhesions can form followiing gallbladder inflamation (cholecystitis).


Eosinophilic ascites

description: A type of ascites in which there are large numbers of eosinophils in the ascitis fluid.


name: Focal aware emotional seizure with pleasure

description: Focal emotional seizure with pleasure in which awareness is retained throughout.


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


Abnormal blood vessel morphology

description: Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein).


name: Hypoplasia of the musculature of the pelvis

description: Underdevelopment of the musculature of the pelvis.


Atretic gallbladder

description: Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia.


Coronary 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 a coronary artery.


White hair

description: Hypopigmented hair that appears white.


Antilactoferrin antibody positivity

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


Midclavicular hypoplasia

description: Underdevelopment of the middle portion of the clavicle.


Increased serum testosterone level

description: An elevated circulating testosterone level in the blood.


Reye syndrome-like episodes

description: Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure.


Open bite

description: Visible space between the dental arches in occlusion.


name: Abnormal circulating complement factor H related protein 1 concentration

description: A deviation from the normal concentration in blood of factor H-related protein 1 (FHR-1)


name: Cytoplasmic antineutrophil antibody positivity

description: The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils.


name: Anti-trypanosoma cruzi antibody positivity

description: The presence of antibodies in the blood circulation that react against a component of trypanosoma cruzi.


Mallory bodies

description: Cytoplasmic hyaline inclusions of hepatocytes that are predominantly filamentous ranging from a diameter of 3 to 24 nm vs. 10 nm of classical IF. Mallory-Denk bodies can be classified as type I (parallels filaments), II (randomly orient filaments), or III (granular and amorphous). Type II occurs in the periphery while type III occurs around the center. MDB occur in ballooned hepatocytes.


Thin nail

description: Nail that appears thin when viewed on end.


name: Abnormal CSF alpha-aminobutyrate concentration

description: Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid.


name: Abnormal platelet phosphatidylserine exposure

description: An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement.


Transient decreased circulating IgG3

description: A temporary reduction beneath the normal level of total immunoglobulin G3 (IgG3) in the blood circulation.


Abolished vibration sense

description: A complete loss of the ability to perceive vibration.


Resting tremor

description: A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse.


Aplasia/Hypoplasia of the biceps

description: Absence or underdevelopment of the biceps muscle.


Supernumerary tarsal bone

description: The presence of an additional tarsal bone that is not one of the canonical tarsal bones (cuboid, medial, intermediate, and lateral cuneiform, navicular, talus, calcaneus).


name: Difficulty recognizing another's emotions

description: A difficulty in being able to understand the emotions of other people. This can range from recognizing emotions from facial expressions to an inability to empathize with others when they describe their feelings


name: Decreased sensory nerve conduction velocity

description: Reduced speed of conduction of the action potential along a sensory nerve.


Agraphesthesia

description: Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination).


Aplasia of the pectoralis major muscle

description: Absence of the pectoralis major muscle.


Elfin facies

description: This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations.


name: Abnormal circulating proline concentration

description: Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation.


name: Stippling of the epiphysis of the middle phalanx of the 5th finger

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger.


Decreased systolic blood pressure

description: Abnormal decrease in systolic blood pressure.


Positive meconium methadone test

description: Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in meconium.


Bronchocele

description: A bronchocele is bronchial dilatation due to retained secretions (mucoid impaction) usually caused by proximal obstruction, either congenital (eg, bronchial atresia) or acquired (eg, obstructing cancer). A bronchocele is a tubular or branching Y-or V-shaped structure that may resemble a gloved finger. The CT attenuation of the mucus is generally that of soft tissue but may be modified by its composition (eg, high-attenuation material in allergic bronchopulmonary aspergillosis). In the case of bronchial atresia, the surrounding lung may be of decreased attenuation because of reduced ventilation and, thus, perfusion.


name: Focal impaired awareness orofacial automatism seizure

description: A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by orofacial automatisms at onset.


name: Left ventricular outflow tract obstruction

description: Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle.


Orbital cleft

description: A facial cleft characterized by involvement of the orbit.


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

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


name: Bicuspid aortic valve with right-noncoronary cusp fusion

description: A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and noncoronary cusps (RN fusion pattern). This results in two leaflets with right-left leaflet orientation (also called the atypical pattern). There is thus one completely developed left cusp, two completely developed commissures, and one raphe between the underdeveloped right and noncoronary coronary cusps extending to the corresponding malformed commissure.


High myoinositol in brain by MRS

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


Increased CSF tryptophan concentration

description: Abnormally increased levels of tryptophan in cerebrospinal fluid.


Autophony

description: Hearing one's own voice resonating loudly in the ear.


Chiari malformation type I

description: Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic.


name: Abnormal CSF aspartate family amino acid concentration

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


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

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


Abnormal ascending aorta morphology

description: Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise.


name: Increased annexin V binding to platelet phosphatidylserine

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


name: Oligoclonal elevation of circulating IgE

description: An increase in circulating IgE characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.


name: Triangular shaped distal phalanx of the 5th toe


name: Renal interstitial IgG4+ plasma cell infiltration

description: An increased number of IgG4+ plasma cells in the interstitial space of the kidney.


Abnormal third toe morphology

description: An anomaly of the third toe.


Aplasia/Hypoplasia of the 5th finger

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


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

description: Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger.


name: Decreased circulating biotinidase concentration

description: Concentration of biotinidase in the blood circulation below the lower limit of normal. Biotidinase is an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.


Mitten deformity

description: Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a "mitten" hand deformity.


name: Stippling of the epiphysis of the proximal phalanx of the 5th finger

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger.


name: Osteolytic defects of the distal phalanx of the 5th finger

description: Dissolution or degeneration of bone tissue of the distal phalanx of the 5th finger.


name: Increased urine alpha-ketoglutarate concentration

description: A greater than normal concentration of 2-oxoglutaric acid in the urine.


Alexithymia

description: A deficit in emotional awareness is characterized by difficulties in recognizing and expressing feelings and emotions. This deficit manifests as a limited ability to respond to facial cues or other signs of emotions in others, often accompanied by detached connections to others.


Metatarsal fracture

description: A partial or complete breakage of a metatarsal bone.


Increased cardiac output

description: An increased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat.


name: Aplasia/Hypoplasia involving the central nervous system

description: Absence or underdevelopment of tissue in the central nervous system.


Abnormality of the glabella

description: An abnormality of the glabella.


name: Supraventricular tachycardia with a manifest accessory pathway on the left free wall


Abnormal 5th metacarpal morphology

description: Any abnormality of the fifth metacarpal bone.


Low-grade vesicoureteral reflux

description: Vesicoureteral reflux without dilation of the renal calyces (Grade I-II).


Nevus psiloliparus

description: Nevus psiloliparus is a rare fatty tissue nevus that is a marker for encephalocraniocutaneous lipomatosis, a neurocutaneous syndrome with ocular and central nervous system anomalies. Clinically, nevus psiloliparus is often described as a congenital alopecia and appears as an irregularly shaped, circumscribed area of alopecia on the scalp. Histopathology demonstrates a near-complete absence of mature hair follicles with preservation of arrector pili muscles and mature adipocytes within the dermis.


name: Reduced N-acetylgalactosamine-6-sulfate sulfatase in cultured fibroblasts

description: Concentration or activity of N-acetylgalactosamine-6-sulfate sulfatase as measured in cultured fibroblasts is below the limits of normal.


Abnormal vestibulo-ocular reflex

description: An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude.


name: Anomalous origin of the left common carotid artery from the brachiocephalic artery

description: The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery.


Physiological reactivity to cues

description: Marked physiological reactions to internal or external cues that symbolize or resemble an aspect of the traumatic event(s).


Single trichilemmoma

description: Presence of a unitary trichilemmoma, a benign tumor originating from the outer root sheath of the hair follicle.


name: Focal impaired awareness hyperkinetic seizure

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


Talipes equinovalgus

description: A deformity of foot and ankle in which the foot is bent down and outwards.


prosopagnosia

description: Impaired ability to recognize other human faces in the absence of a vision disorder. It may be a congenital disorder or the result of brain injury.


Hobby horse gait

description: An abnormal gait characterized by toe walking, stiff legs, and skipping. The gait pattern has some resemblance to cock-walk gait, but affected individuals are able to improve their dystonic gait by walking backward.


name: Stippling of the epiphyses of the 2nd finger

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger.


Fragmentation of thumb epiphysis

description: Epiphysis of the thumb having multiple bony fragments.


name: Abnormal fucosylation of O-linked protein glycosylation

description: An anomaly of the addition of fucose sugar units to O-linked glycans.


Aplasia/Hypoplasia of the midbrain

description: Absence or underdevelopment of the midbrain (mesencephalon).


name: Neonatal electro-clinical sequential seizure

description: Neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic signs, often changing lateralization within or between seizures.


Amplification of emotional expression

description: An increase in the tendency of a person to express emotions compared to that person's previous norm.


name: Anti-muscle-specific tyrosine kinase antibody

description: The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab).


Talar aplasia

description: Absent talus owing to a congenital defect.


Rib fusion

description: Complete or partial merging of adjacent ribs.


name: Reduced ratio of renal calcium clearance to creatinine clearance

description: A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01.


Interstitial dermal edema

description: Accumulation of fluid in the interstitial spaces of the skin. This finding can be appreciated my microscopic examination of a skin biopsy.


name: hyperlipidemia, familial combined, LPL related

description: A disorder of lipoprotein metabolism characterized by high levels of cholesterol and triglycerides in the blood. It is caused by elevation of low density and very low density lipoproteins.


penile neoplasm

description: A benign, borderline, or malignant neoplasm that affects the penis. Representative examples include penile hemangioma, penile intraepithelial neoplasia, and penile carcinoma.


Peripheral axon spheroid formation

description: Axonal spheroids are bubble-like biological features that form on most degenerating axons.


name: Two carpal ossification centers present at birth


Abnormal pharynx morphology

description: A structural anomaly of the pharynx.


name: Abnormal cardiomyocyte mitochondrial morphology

description: An anomaly of the structure of mitochondria within cardiomyocytes.


description: Abnormality of glycosaminoglycan metabolism.


Spastic paraparetic gait

description: A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait.


Verrucous papule

description: A wartlike (with multiple small elevated projections) papule.


Ectopic ureteral orifice

description: Drainage of the ureter on one or both sides into an abnormal location. Normally the ureter drains via the internal ureteral orifice at the trigone of the urinary bladder. Ectopic ureteral orifice can be either intravesical (bladder neck) or, more often, extravesical. Ectopia in women is more frequently found in the urethra and the vaginal vestibule; much less frequently in vagina and in uterus. In men it is mostly found in the posterior urethra; in the male genital tract is very rare.


name: Elevated circulating 3-hydroxyhexanoylcarnitine concentration

description: Concentration of 3-hydroxyhexanoylcarnitine (C6-OH) in the blood circulation above the upper limit of normal.


Type 1 muscle fiber atrophy

description: Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy.


Recurrent cerebral hemorrhage

description: Recurrent bleeding into the parenchyma of the brain.


Abnormal nasal tip morphology

description: An abnormality of the nasal tip.


name: Increased serum bile acid concentration during pregnancy


name: Increased rate of premature chromosome condensation

description: An increased rate of premature chromosome condensation.


Polycalycosis

description: Increased number of calices of the kidney.


Pericardial constriction

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


Pectus carinatum

description: A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.


Hopelessness

description: Excessive feelings of despair; an intense state of despair; an overwhelming lack of hope.


pulmonary artery hypoplasia

description: Underdevelopment of the pulmonary artery.


Focal emotional seizure with paranoia

description: Focal emotional seizure with paranoia is characterized by the presence of paranoia as an expressed or observed emotion at the outset of the seizure.


PAS-positive lymphocyte vacuolization

description: Presence of lymphocytes with positive staining for periodic acid-Schiff (PAS) cytoplasmic vacuoles.


name: Single atrioventricular valve regurgitation

description: Regurgitation of the single atrioventricular valve regurgitation (AVVR) in the context of a congenital heart defect with a single ventricle. Roughly three quarters of patients following Fontan procedure display AVVR.


Social Anxiety

description: Excessive fear of embarrassment, humiliation, or rejection when exposed to possible negative evaluation by others when engaged in a public performance or social interaction.


Increased CSF lactate

description: Increased concentration of lactate in the cerebrospinal fluid.


Abnormal second heart sound

description: Any anomaly of the second heart sound (S2), which is produced by aortic (A2) and pulmonic (P2) valve closure. The A2-P2 interval normally increases with inspiration and narrows with expiration.


Camptodactyly of 2nd-5th fingers

description: The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension.


Chronic acidosis

description: Longstanding abnormal acid accumulation or depletion of base.


Focal autonomic seizure

description: An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature.


name: Abnormal urine hexanoylglycine concentration

description: Abnormal concentration of hexanoylglycine in the urine.


Psychotic mentation

description: A pattern of thinking and perceiving characterized by a loss of contact with reality, leading to significant changes in thoughts, perceptions, and behaviors.


name: Abnormal circulating phenylalanine concentration

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


Meconium peritonitis

description: Peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications.


Unilateral breast hypoplasia

description: Underdevelopment of the breast on one side only.


Gastrojejunal tube feeding in infancy

description: Feeding problem necessitating gastrojejunal tube feeding.


name: Increased urinary excretion of galactosyl hydroxylysine

description: An increased concentration of beta-1-galactosyl-O-hydroxylysine (Gal-Hyl) in the urine. This is a biochemical marker of bone resorption.


name: Reduced leukocyte arylsulfatase A activity

description: Concentration or activity of the lysosomal enzyme arylsulfatase A (EC 3.1.6.8) as measured in leukocytes is below the limits of normal.


Tongue myxoma

description: A myxoma (benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation) localized in the tongue.


Intrathoracic hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the intrathoracic or chest region.


Vaginal dryness

description: Persistent vaginal dryness.


Thymic hormone decreased

description: A reduction in the level of thymic horomone.