name: Coronary cameral fistula to right ventricle

description: An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle.


Renal cortical atrophy

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

description: Atrophy of the cortex of the kidney.


Aplasia of the semicircular canal

description: Absence of the semicircular canal.


Short 2nd metacarpal

description: Short second metacarpal bone because of developmental hypoplasia.


Premature anterior fontanel closure

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


Klazomania

description: Involuntary attacks of compulsive paroxysmal shouting. The shouting behaviors may be extremely loud and not related to the ongoing mental state of the affected individual. Shouting episodes may occur in bouts and last for several hours.


name: Abnormality of the fourth metatarsal bone


Prominent calcaneus

description: Protruding heel bone, or calcaneus.


Cleft lower lip

description: A gap in the lower lip.


Abnormality of temperature regulation

description: An abnormality of temperature homeostasis.


Abnormal homeostasis

description: An anomaly in the processes involved in the maintenance of an internal equilibrium.


name: Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts

description: Activity of phosphoenolpyruvate carboxykinase (EC 4.1.1.32) is below the lower limit of normal in cultured fibroblasts.


Abnormal olfactory lobe morphology

description: A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell.


Fractured manual digit 1 phalanx

description: A partial or complete breakage of the manual digit 1 phalanx.


Supernumerary metacarpal bones

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


name: Hypoplasia of the vestibule of the inner ear

description: Underdevelopment of the vestibule of the inner ear.


Fetal scalp mass

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


name: Irregularly shaped keratohyaline granules

description: Abnormal shape of keratohyaline granules in dermal keratinocytes.


Hypersarcosinuria

description: An elevated urinary concentration of sarcosine.


Prolonged bleeding after surgery

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


Anti-mGluR5 antibody

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


Vertical clivus

description: An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum).


Tibial pseudarthrosis

description: Pseudarthrosis, or "false joint" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life.


Abnormal urine osmolality

description: A deviation from the normal range of concentration of particles in urine.


Interlobular vein medial hypertrophy

description: Increased thickness of middle layer of the interlobular veins of the kidney.


Partial agenesis of the corpus callosum

description: A partial failure of the development of the corpus callosum.


Oral erythroplakia

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


Widened cerebellar subarachnoid space

description: An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum.


Increased circulating IgG3 level

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


name: Moderately reduced left ventricular ejection fraction

description: A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle, defined as a left ventricular ejection fraction of 30-39 percent.


Nephrogenic rest

description: Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney.


name: Decreased proportion of CD3-positive T cells

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


Calcified amorphous tumor of the heart

description: A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue.


Aplasia/Hypoplasia of the fibula

description: Absence or underdevelopment of the fibula.


name: Focal sensory seizure with olfactory features

description: Seizures characterized by olfactory phenomena as its first clinical manifestation.


Aplasia of the premaxilla

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


name: Abnormal glomerular mesangium morphology

description: An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries.


name: Abnormal urine sebacic acid concentration

description: Abnormal concentration of sebacic acid in the urine.


description: Neonatal bilateral asymmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body but asymmetrically.


name: Skin fragility with non-scarring blistering


Elevated myocardial iron load

description: Increased amount of iron in myocardial tissue.


Thoracoabdominal eventration

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


Mesangial immunotactoid deposits

description: Extracellular mesangial aggregates composed of non-branching fibrils, focally parralel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination.


Nodular mesangiosclerosis

description: Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei.


Hypoammonemia

description: A decreased concentration of ammonia in the blood.


Abnormal urine protein level

description: Any deviation of the concentration of one or more proteins in the urine.


factor XIII, A subunit, deficiency of

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

description: Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.


primary tethered cord syndrome

description: Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated.


Gastric perforation

description: A full-thickness injury of the wall of the stomach.


name: Congenital malformation of the left heart

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


name: Elevated circulating alpha-aminoadipic semialdehyde concentration

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


name: Aplasia of the proximal phalanges of the toes


name: Decreased CD25 upregulation upon TCR activation

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


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


Microdontia

description: Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.


Ejection click

description: A high-pitched sound that occurs at the moment of maximal opening of the aortic or pulmonary valves. They are heard just after the first heart sound. The sounds occur in the presence of a dilated aorta or pulmonary artery or in the presence of a bicuspid or flexible stenotic aortic or pulmonary valve. Ejection clicks may also be called ejection sounds.


Hypoplastic spleen

description: Underdevelopment of the spleen.


name: Bullet-shaped distal phalanx of the 2nd toe

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


name: Reduced tissue tissue AICAR transformylase activity

description: Concentration or activity of 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase; EC 2.1.2.3) a in a tissue is below the lower limit of normal.


Finger flexor weakness

description: Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion.


name: Focal cognitive seizure with expressive dysphasia/aphasia

description: A focal cognitive seizure characterized by expressive dysphasia / aphasia as the initial semiological manifestation.


Diffuse pancreatic islet hyperplasia

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


Distal lower limb amyotrophy

description: Muscular atrophy of distal leg muscles.


Rectal arteriovenous malformation

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


heart lipoma

description: A rare benign adipose tissue neoplasm of the heart usually originating in the epicardial or pericardial fatty tissue.


Sclerosis of foot bone

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


Metaphyseal striations

description: Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis).


Hypoplasia of the vestibular nerve

description: Underdevelopment of the vestibular nerve.


Bronchocentric granulomatosis

description: Granulomatous inflammation that surrounds the bronchi and bronchioles, replacing bronchial walls and mucosa. In bronchocentric granulomatosis, the lumen of the airway contains necrotic debris, and palisaded histiocytes surround the lumen.


Decreased CSF neopterin level

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


name: Abnormal circulating beta-C-terminal telopeptide concentration

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


Anterior beaking of thoracic vertebrae

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


name: Focal impaired awareness motor seizure with dysarthria/anarthria

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


Hip contracture

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


Posterior helix pit

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


name: Anterior predominant subcortical band heterotopia

description: Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible in the frontal and temporal lobes.


name: Decreased circulating GABA concentration

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


Increased CSF uracil concentration

description: An increased level of uracil in the cerebrospinal fluid.


name: Impaired thromboxane A2 agonist-induced platelet aggregation

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


name: Intimal thickening in the coronary arteries


Curved distal phalanx of the 4th finger

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


Decreased facial expression reciprocity

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


Delayed ossification of the sacrum

description: Formation of the sacrum bone tissue occurs later than age-adjusted norms.


name: Abnormality of the urinary system physiology


Myopathic facies

description: A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness.


Asymmetry of the thorax

description: Lack of symmetry between the left and right halves of the thorax.


Unilateral renal atrophy

description: A unilateral form of atrophy of the kidney.


Sarcoplasmic bodies

description: Rounded or oval structures that appeared brown on hematoxylin and eosin and red on the modified Gomori trichrome stain.


Fibular metaphyseal irregularity

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


Crumpled long bones

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


Increased level of xylitol in urine

description: An increase in the level of xylitol in the urine.


Biparietal narrowing

description: A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull).


name: Elevated circulating long-chain acylcarnitine concentration

description: Concentration of long-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Long-chain acylcarnitines have between thirteen and twenty carbon atoms in the acyl-chain (C13-C20),


Air crescent

description: An air crescent is a collection of air in a crescentic shape that separates the wall of a cavity from an inner mass. The air crescent sign is often considered characteristic of either Aspergillus colonization of preexisting cavities or retraction of infarcted lung in angioinvasive aspergillosis. However, the air crescent sign has also been reported in other conditions, including tuberculosis, Wegener granulomatosis, intracavitary hemorrhage, and lung cancer.


name: Reduced number of intrahepatic bile ducts

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


prune belly syndrome

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


Spermatocele

description: A cystic structure arising from the epididymis, rete testis or efferent ductuli. These structures are filled with spermatozoa containing fluid that may be milky. These cysts are usually outside the tunica vaginalis and, as with hydrocele, transluminate easily.


Abdominal adhesions

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


Reduced imaginative play skills

description: Reduced or lack of pretending in play (does not assign abstract properties to objects, use invisible objects, or use objects in nonliteral ways other than their intended purpose in play).


name: Abnormal circulating histidine concentration

description: An abnormality of a histidine metabolic process.


Narrow uvula

description: Decreased width of the uvula.


Cigarette-paper scars

description: Thin (atrophic) and wide scars.


Patchy sclerosis of 4th toe phalanx

description: Patchy (irregular) increase in bone density of one or more of the phalanges of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.


Short palm

description: Short palm.


Abnormal mandible morphology

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


name: Nodular subcortical heterotopia in peritrigonal regions

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


Reduced granulocyte CD16 level

description: Reduced level of CD16 on the granulocyte surface as assessed by flow cytometry.


Absent pigmentation of the abdomen

description: Lack of skin pigmentation (coloring) of the abdomen.


myelocystocele

description: Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst.


Preductal coarctation of the aorta

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


name: Focal sensory seizure with auditory features

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


name: Elevated CSF myelin basic protein concentration

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


name: Reduced circulating aspartate aminotransferase concentration

description: The concentration of aspartate aminotransferase (AST) in the blood circulation is below the lower limit of normal.


Anti-perilipin-1 antibody positivity

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


Dilated left subclavian artery

description: Abnormally increased caliber of the left subclavian artery.


Abnormal dental root morphology

description: An abnormality of the dental root.


Abnormal blood oxygen level

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


name: Decreased 3-hydroxyisobutyrate dehydrogenase activity

description: The activity of 3-hydroxyisobutyrate dehydrogenase in the blood circulation is below the lower limit of normal.


Increased triceps skinfold thickness

description: Increased thickness of the triceps skinfold, which is measured halfway down the back of the upper arm is increased.


Abnormal fetal physiology

description: Any functional anomaly of the fetus.


Anterior beaking of lumbar vertebrae

description: Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine.


name: Disproportionate prominence of the femoral medial condyle


Impaired neck-righting reflex

description: Abnormal neck-righting response, which is said to be a physiological response when a child is placed flat on his or her back and the head is turned 90 degrees to the right or the left. With a normal neck-righting response, there follows a reflected torsion of the vertebral column in the same direction as the induced rotation of the neck. That is, the whole body follows the direction in which the head was turned. The response is present from birth to the age of five years.


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


Aplasia/Hypoplasia involving the nose

description: Underdevelopment or absence of the nose or parts thereof.


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


Advanced eruption of teeth

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


Dermatan sulfate excretion in urine

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


Elevated total serum tryptase

description: An abnormally elevated concentration of total tryptase (alpha and beta tryptase) in the blood circulation.


name: Disorganization of the anterior cerebellar vermis


Abnormal T cell count

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


name: Compound muscle action potential amplitude facilitation

description: Compound muscle action potential amplitude (CMAP) facilitation denotes an increase in tendon reflexes, strength, or CMAP amplitude after 10 seconds of maximal voluntary contraction.


Thistle tube shaped pulp

description: A thistle tube shape of the pulp chamber, meaning an enlarged coronal pulp chamber with narrow pulp canals giving a radiographic appearance of the shape of a thistle tube or a flame. It may occur isolated or associated with other dental anomalies and rare diseases such as dentinogenesis imperfecta, which should be assessed and coded separately. The diagnosis thistle tube shape pulp requires clinical and radiographic examinations.


Increased CSF ribitol concentration

description: The concentration of ribitol in the cerebrospinal fluid is above the upper limit of normal.


External carotid artery calcification

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


urocanic aciduria

description: Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.


Abnormal keratinocyte morphology

description: Any structural anomaly of the keratinocyte. The keratinocyte is the major cell type of the epidermis and is responsible for generating the protective barrier.


Increased vertebral height

description: Increased top to bottom height of vertebral bodies.


Purulent rhinitis

description: Chronic rhinitis accompanied by pus formation.


Benign genitourinary tract neoplasm

description: A non-malignant neoplasm of the genitourinary system.


Anti-ryanodine receptor antibody

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


Abnormal sexual behavior

description: An explicit or perceived action, demonstration, conduct, or language (verbal and written) of a sexual nature that goes against generally accepted norms, rules, and procedures. It is considered unacceptable within the context in which it occurs, or it may be both culturally acceptable and atypical/uncommon.


choroid plexus cyst

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


name: Supernumerary vertebral ossification centers

description: Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine.


Elevated urine D-lactate level

description: The amount of D-lactate in the urine, normalized for urine concentration, is above the upper limit of normal. L-lactate is a familiar molecule to the human body and is also produced in large amounts in human tissues, depending on metabolic conditions. In contrast, D-lactate is produced only in minute quantities in human tissues, and is therefore not detectable in the bloodstream under normal physiological conditions.


Focal orofacial automatism seizure

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


Frontal hirsutism

description: Excessive amount of hair growth on forehead.


Duodenal atrophy

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


Absent muscle fiber dysferlin

description: Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy.


name: Perimembranous ventricular septal defect

description: A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs.


Rectal abscess

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


Retracted tympanic membrane

description: A condition in which part of the tympanic membrane is pull backed into the middle ear cavity (also called retraction pocket).


Hypoplasia of fetal nasal bone

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


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


Abnormal circulating renin

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


Thoracic cage flatness

description: The anteroposterior dimension of the chest on the lateral radiograph is often relatively narrow compared with the chest width on the frontal radiograph.


name: Elevated circulating histamine concentration

description: Increased concentration of histamine in the blood circulation.


Recurrent cutaneous fungal infections

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


Abnormal epiphysis morphology

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


molluscum contagiosum

description: A common, benign, usually self-limited viral infection of the skin and occasionally the conjunctivae by a poxvirus (molluscum contagiosum virus). (Dorland, 27th ed)


Bleeding with minor or no trauma

description: Significant bleeding or hemorrhage without significant precipitating factor.


Abnormal cranial ganglion morphology

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


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


name: Cervical vertebral bodies with decreased anteroposterior diameter


name: Elevated circulating dihydrothymine concentration

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


name: Focal cognitive seizure with hallucination

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


Abnormal spleen morphology

description: Any anomaly of the structure of the spleen.


name: Elevated CSF dihydrobiopterin concentration

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


Abnormality of the urachus

description: Abnormality of the urachus.


Cafe-au-lait spot

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


EEG with 4-5/second background activity

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


Abnormal mediastinum morphology

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


Fatigable weakness of neck muscles

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


name: Focal aware cognitive seizure with neglect

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


Enamel hypomineralization

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


Irregular epiphyses of the 5th finger

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


Hypoalaninemia

description: A decreased amount of alanine in the blood.


name: Streaks of hyperkeratosis along each finger onto the palm


Perifollicular fibrosis

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


Anti-reticulin antibody positivity

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


CNS hypermyelination

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


Macrotia

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


name: Abnormal circulating calcitonin concentration

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


Increased circulating palmitate level

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


Increased urinary orosomucoid

description: An increased concentration in the urine of alpha-1-acid glycoprotein (AGP), also known as orosomucoid (ORM). AGP is a 41-43-kDa glycoprotein with a pI of 2.8-3.8. AGP is an acute-phase protein that has many activities including, but not limited to, acting as an acute-phase reactant and disease marker, modulating immunity, binding and carrying drugs, maintaining the barrier function of capillary, and mediating the sphingolipid metabolism.


name: Abnormality of tensor veli palatini muscle

description: An abnormality of the tensor veli palatini muscle


Fetal pericardial effusion

description: An abnormal accumulation of fluid in which the heart is partially or completely surrounded by fluid that is seen in all views and the thickness of the fluid as observed by prenatal ultrasound is above age-dependent norms.


Aortic annulus calcification

description: Pathological deposition of calcium salts in the aortic annulus, a fibrous ring-like structure found at the insertion point of the basal attachments of the aortic valve leaflets within the left ventricular outflow tract.


Palmar warts

description: Multiple verrucous lesions on the skin of the palm. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by human papillomavirus (HPV).


Corpus cavernosum hypoplasia

description: A developmental anomaly characterized by undergrowth of the corpus cavernosum.


Fractured hindlimb bone

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


Abnormal medulla oblongata morphology

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


Abnormality of cytokine secretion

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


Hypoplastic trochlear nerve

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


name: Decreased glucosephosphate isomerase level

description: A decreased level of glucose-6-phosphate isomerase.


name: Fusiform descending thoracic aortic aneurysm

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


Dermal translucency

description: An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility.


name: Centrilobular ground-glass opacification on pulmonary HRCT

description: A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules.


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

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


name: Precocious puberty with Sertoli cell tumor


Focal perseverative automatism seizure

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


Short N3 sleep

description: Disruptions in the third stage of NREM sleep.


Accessory scrotum

description: Additional scrotum, or part of a scrotum in an abnormal location.


Elevated urinary norepinephrine level

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


name: Focal aware sensory seizure with gustatory features

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


name: Multicentric ossification of proximal humeral epiphyses


Breech presentation

description: A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first.


Epidermal necrosis

description: Death of keratinocytes in the epidermis layer of the skin, which generally manifests as extensive exfoliation (separation of the epidermis from the underlying dermis).


Cardiomyocyte inclusion bodies

description: Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes.


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


Abnormal magnesium concentration

description: An abnormality of magnesium ion homeostasis.


Abnormal circulating properdin level

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


Esophageal stricture

description: A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen.


Abnormal endocrine morphology

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


Abnormal cardiac ventricular function

description: An abnormality of the cardiac ventricular function.


Spinal myoclonus

description: Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia.


name: Reduced epidermal collagen VII protein expression


Levotransposition of the great arteries

description: A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the left of the pulmonary artery.


Complete duplication of hallux phalanx

description: Complete duplication of one or more phalanx of big toe.


name: Reduced tissue mannosyl-oligosaccharide glucosidase activity

description: Activity of mannosyl-oligosaccharide glucosidase (MOGS) in tissues below the lower limit of normal. MOGS activity can be measured in multiple tissues including liver and cultured fibroblasts.


name: Increased fucosylation of O-linked protein glycosylation

description: Increased addition of fucose sugar units to O-linked glycans.


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


name: Congenital symmetrical palmoplantar keratosis


name: Abnormal upper-limb motor evoked potentials

description: An anomaly identified by motor evoked potentials (MEPs) in the arm.


Cold-induced muscle cramps

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


Abnormally straight spine

description: The absence of the normal curvature of the vertebral column.


Abnormal larynx physiology

description: Any anomaly of the function of the larynx.


name: Abnormality of the epiphysis of the 1st metacarpal

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


familial multiple nevi flammei

description: A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color.


name: Increased circulating argininosuccinic acid

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


Irregular proximal tibial epiphyses

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


name: Subendothelial glomerular basement membrane electron dense deposits

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


name: Muscle fiber intranuclear inclusion bodies

description: The presence of inclusion bodies within the nucleus of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.


Musty odor

description: Pungent body odor.


name: Left superior vena cava draining directly to the left atrium

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


name: Abnormal anterior semicircular canal morphology


name: Elevated urinary succinylaminoimidazole carboxamide riboside level

description: Presence of succinylaminoimidazole carboxamide riboside (SAICAr). SAICAr is a toxic intermediate metabolite of purine synthesis.


Limited repertoire of facial expression

description: An abnormally limited range of facial expressions demonstrated by a lack of nuance of facial expression to match specific social situations or an inability to demonstrate a normal range of emotions with one's face.


name: Reduced circulating interleukin 27 concentration

description: An abnormally decreased concentration of interleukin 27 in the blood circulation.


Focal sexual automatism seizure

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


Mild receptive language delay

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


Abnormal proportion of naive B cells

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


PR segment depression

description: A reduction in voltage of the PR segment below baseline.


Striatal T2 hyperintensity

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


Bladder polyp

description: An abnormal growth that projects from the mucous membrane of the urinary bladder.


Recurrent streptococcal infections

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


name: Abnormality of the distal radial epiphysis

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


Displaced tracheal bronchus

description: Accessory bronchus originating from trachea replacing one of the segmental branches of the anatomically normal upper lobe bronchus.


name: Abnormality of the joint spaces of the elbow


Induced vaginal delivery

description: Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own.


Abnormality of the subungual region

description: A lesion located beneath a fingernail or toenail.


name: Proximal/middle symphalangism of 5th toe

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


Temporomandibular joint adhesion

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


Increased total iron binding capacity

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


name: Focal impaired awareness sensory seizure with visual features

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


Microcephaly

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


Aortic medial fibrosis

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


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

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


Diaphyseal undertubulation

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


name: Decreased CSF N-acetylaspartic acid concentration

description: Concentration of N-acetylaspartic acid in the cerebrospinal fluid below the lower limit of normal.


Abnormal renal arteriole morphology

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


Long distal phalanx of finger

description: Increased length of the distal phalanx of finger.


urolithiasis

description: Stone(s) within the urinary tract.


Airborn particle hypersensitivity

description: An abnormally increased sensitivity to airborn particles. This can be diagnosed on the basis of the medical history, taking into account seasonality or a relationship to the concentration of airborn particles in the environment of the affected individual. Aerosol challenge is a gold standard of establishment of the symptom. There exist particle hypersensitivity (diesel exhaust, metals, inorganic material) vs. allergen (including pollen dander, etc) hypersensitivity. The responses are usually different and testing for allergen hypersensitivity is done in concert with serum IgE and or skin testing to the suspected allergen.


Decreased circulating IgG4 level

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


name: Symphalangism affecting the proximal phalanx of the 4th finger

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


name: Positive bloodstream Cysticercosis antigen test

description: Demonstration of an antigen specific to Cysticercosis in the bloodstream.


Abnormality of the supraorbital ridges

description: An anomaly of the supraorbital portion of the frontal bones.


Chest tightness

description: An unpleasant sensation of tightness or pressure in the chest.


Presacral teratoma

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


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


Senile plaques

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


Hand tremor

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


Erythematous macule

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


Focal aware automatism seizure

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


name: Spinocerebellar tract disease in lower limbs


Elevated urine L-alloisoleucine level

description: Abnormally increased level of L-alloisoleucine in the urine.


Decreased beta-glucocerebrosidase level

description: Reduced level of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose.


name: Abnormal distal ulnar epiphysis morphology

description: Any abnormality of the distal epiphysis of the ulna.


name: Irregular epiphysis of the distal phalanx of the hallux


Stool xenobiotic

description: Presence of xenobiotic in stool.


name: Abnormality of the distal phalanx of the hallux


Hip adductor weakness

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


Decreased libido

description: Decreased sexual desire.


Osteoporotic metatarsal

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


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

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


Increased fecal harderoporphyrin

description: Abnormally high concentration of harderoporphyrin in feces.


name: Increased phosphoribosylpyrophosphate synthetase level

description: Abnormally elevated level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.


Thumb extension contracture

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


Postprandial hyperlactemia

description: Abnormally increased level of blood lactate following a meal.


name: Elevated circulating 3-hydroxyhexadecanoylcarnitine concentration

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


pterygium

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


name: Renal interstitial immunoglobulin deposits

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


Wrist pain

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


Prolonged QTc interval

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


Type IV atherosclerotic lesion

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


Alpha-aminobutyric aciduria

description: Increased amount of alpha-aminobutyric acid in the urine.


Thyroid lymphangiectasia

description: The presence of lymphangiectasis of the thyroid gland.


Hypoplastic nasopharyngeal adenoids

description: Underdevelopment of the nasopharyngeal adenoids.


name: Partial duplication of the phalanx of hand

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


name: Reduced muscle lactate dehydrogenase activity

description: Activity of the enzyme lactate dehdrogenase (LHD; 1.1.1.27) in muscle tissue is below the lower limit of normal. LDH catalyzes the conversion of pyruvate to lactate and back, as it converts NAD+ to NADH and back.


name: Elevated circulating porphyrin concentration

description: Concentration of porphyrins or of a specific porphryin above the upper limit of normal. The most commonly tested circulating porphyrins are coproporphyrin, protoporphyrin, and uroporphyrin. Normally protoporphyrin is present in the highest concentration.


name: Symphalangism affecting the proximal phalanx of the 3rd toe


Broad face

description: Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective).


name: Abnormality of extrinsic muscle of tongue


Abnormal tongue morphology

description: Any structural anomaly of the tongue.


name: Reduced circulating acylcarnitine concentration

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


name: Patchy sclerosis of the distal phalanx of the 2nd finger

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


Decreased urine urobilinogen

description: An abnormally reduced concentration of urobilinogen in the urine.


name: Increased ratio of deoxypyridinoline to pyridinoline cross-links in urine

description: The relative concentration of deoxypyridinoline (Dpyr) to that of pyridinoline (Pyr) cross-links in urine is above the upper limit of normal.


Preauricular hair displacement

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


name: Anti-platelet derived growth factor receptor

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


Gastric intraepithelial lymphocytosis

description: The count of lymphocytes located in the epithelial layer of the gastric mucosa is above the upper limit of normal.


name: juvenile type testicular granulosa cell tumor

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


Carpal bone aplasia

description: Congenital absence of a carpal bone.


Unilateral vestibular schwannoma

description: A unilateral vestibular schwannoma (acoustic neurinoma).


Splenic xanthomatosis

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


Interphalangeal thumb joint contracture

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


Reduced sharing of interests

description: An absence or abnormally low frequency of engaging with others to share personal interests or topics. Interest sharing includes offers of information about oneself as a form of social interaction.


name: Abnormal urine guanidinoacetic acid level

description: The concentration of guanidinoacetic acid in the urine, normalized for urine concentration, is outside normal limits.


Lip pit

description: A depression located on a lip.


name: Bracket epiphysis of the proximal phalanx of the 4th finger

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


Micrographia

description: Abnormally small-sized handwriting is formally defined as an impairment of fine motor skills, which mainly manifests as a progressive or stable reduction in amplitude during a writing task.


2-3 toe syndactyly

description: Syndactyly with fusion of toes two and three.


Elevated right atrial pressure

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


Increased core 1 O-glycan level

description: An abnormal increase in the concentration of core 1 O-glycans on glycoproteins.


name: Transient decreased circulating total IgG

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


Heterotopic dermal ossification

description: Formation of abnormal, extraskeletal bony tissue in the dermis (i.e., the layer of skin that lies beneath the epidermis and above the subcutaneous layer).


name: Elevated circulating glycylproline concentration

description: Concentration in the bloodstream of glycylproline above the upper limit of normal. Glycylproline is a dipeptide composed of glycine and proline, and is an end product of collagen metabolism that is further cleaved by prolidase (EC 3.4.13.9).


Fetal nuchal edema

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


Midline nasal groove

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


Pili canaliculi

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


Cutaneous sclerotic plaque

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


Red-brown urine

description: An abnormal red-brown color of the urine.


Monomorphic vesicular eruption

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


name: Elevated circulating 3-hydroxyanthranilic acid concentration

description: The concentration of 3-hydroxyanthranilic acid in the blood circulation is above the upper limit of normal.


Hepatic agenesis

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


Abnormal cytokine signaling

description: Any abnormality in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription.


Elevated RV/TLC ratio

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


Elevated urine octanoic acid level

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


Abnormal tarsal ossification

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


Hypoplasia of the olfactory bulb

description: Underdevelopment of the olfactory bulb.


Phobia

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


name: Increased circulating heparan sulfate level

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


Functional abnormality of the inner ear

description: An abnormality of the function of the inner ear.


name: Linear IgG deposits along the epidermal basement membrane zone

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


Absent uvula

description: Lack of the uvula.


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


Anti-GlyR antibody

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


Hyperreflexia

description: Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.


Esophageal duplication

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


name: Absent right sided atrioventricular connection

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


Small cervical vertebral bodies

description: Reduced size of cervical vertebrae.


Atrial septal hypertrophy

description: An abnormal increase in the thickness of the atrial septum.


name: Irregular epiphyses of the middle phalanges of the hand


name: Proximal/middle symphalangism of 3rd finger

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


Cutaneous granuloma

description: A granuloma localized to the skin, that is, a chronic inflammatory manifestation with localized aggregation of histiocytes with or without other inflammatory cells (such as plasma cells, eosinophils, or neutrophils), with or without necrosis, with or without vasculitis, with or without calcification, and with or without foreign bodies. Granulomas may be due to infection or chronic inflammatory disease or reactions to foreign material.


Abnormal MHC II surface expression

description: A deviation from the normal level of major histocompatibility complex class II molecules expressed at the cell surface.


name: Substantia nigra dopaminergic neuron loss

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


Inflexible adherence to routines

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


Fixated interests

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


Narrow incisura width

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


name: Premature separation of centromeric heterochromatin


Basilar artery calcification

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


Inguinal abscess

description: A circumscribed area of pus or necrotic debris in the groin (inguinal region).


Fungal bloodstream infection

description: Detection of a fungal organism (such as candida or coccidioides) in the blood stream.


Acrocyanosis

description: Bluish discoloration of the skin of the hands or feet.


name: Abnormality of frontal process of maxilla

description: An abnormality of a frontal process of the maxilla bone.


Schmorl's node

description: A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra.


Premature atrial contractions

description: A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites.


Bent sperm flagella

description: The proportion of sperm cells whose flagella is sharply curved or has a sharp angle is above normal limits.


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

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


name: Hypothalamic gonadotropin-releasing hormone deficiency


name: Interlobular vein intima/media multilamellation

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


Peripheral arterial calcification

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


name: Impaired epinephrine-induced platelet aggregation

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


Pulmonic valve myxoma

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


name: Abnormal morphology of the proximal phalanx of the 2nd toe


Unicuspid aortic valve

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


Vocal cord paresis

description: Decreased strength of the vocal folds.


Rounded middle phalanx of finger

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


Bilateral intracerebral calcifications

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


Y-shaped metatarsals

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


name: Aplasia cutis congenita of midline scalp vertex


name: Abnormal thyroid-stimulating hormone level

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


10 pairs of ribs

description: Presence of only 10 (instead of the usual 12) pairs of ribs.


Tibial bowing

description: A bending or abnormal curvature of the tibia.


High posterior hairline

description: Hair on the neck extends less inferiorly than usual.


name: Bilateral single transverse palmar creases

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


name: Elevated circulating globotriaosylceramide concentration

description: Increased concentration of globotriaosylceramide (Gb3) in the blood circulation. Globotriaosylceramide, also named ceramidetrihexoside, is the primary lipid storage in Fabry disease.


Episodic fatigue

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


atresia of urethra

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


Subarterial ventricular septal defect

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


paranasal sinus neoplasm

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


Asternia

description: The congenital absence of the sternum.


Animal dander allergy

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


name: Increased circulating complement factor H related protein 1 concentration

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


name: Elevated circulating 3-hydroxybutyric acid concentration

description: Elevation of the 3-hydroxybutyric acid concentration in the blood above the normal range.


chylous ascites

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


name: Elevated circulating alanine aminotransferase concentration

description: An abnormally high concentration in the circulation of alanine aminotransferase (ALT).


Abnormal muscle fiber morphology

description: Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers.


Abnormal odontoid process morphology

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


name: Focal aware cognitive seizure with illusion

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


Midclavicular aplasia

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


name: Focal impaired awareness cognitive seizure

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


Asymmetric growth

description: A growth pattern that displays an abnormal difference between the left and the right side.


Urinary mulberry cells

description: Distal tubular epithelial cells in which globotriaosylceramide (Gb3) has accumulated. they are the characteristic feature of Fabry disease. Urinary mulberry bodies are a component of mulberry cells that can be distinguished easily from fat particles by their inner lamellar appearance.


disorder of sexual differentiation

description: A congenital disorder characterized by abnormalities in the development of the sexual characteristics.


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


Peripheral hypermyelination

description: Increased amount of peripheral myelination.


Sparse anterior scalp hair

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


name: Cellular hypersensitivity to diepoxybutane

description: An increased cellular sensitivity to the DNA cross-linking agent, diepoxybutane (DEB). In the presence of increased sensitivity, DEB causes cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle.


Herpetiform vesicles

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


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

description: Complete duplication of middle phalanx of second toe.


Difficulty climbing stairs

description: Reduced ability to climb stairs.


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


Fetal abdominal cyst

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


Precocious puberty in males

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


Prolonged central motor conduction time

description: Increased duration of the central motor conduction time (CMCT). The CMCT estimates the conduction time of corticospinal fibers between motor cortex and spinal (or bulbar) motoneurons. It includes the times for excitation of cortical cells, conduction via the corticobulbar-corticospinal tract and excitation of the motoneuron sufficient to reach its firing threshold. CMCT is calculated by subtracting the peripheral conduction time from the MEP latency recorded after cortical stimulation.


Subperiosteal bone formation

description: The formation of new bone along the cortex and underneath the periosteum of a bone.


Anti-pituitary antibody positivity

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


Long ulna

description: Increased length of the ulna.


name: diffuse nonepidermolytic palmoplantar keratoderma

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


Curved 4th toe phalanx

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


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


EEG with temporal focal spike waves

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


name: Abnormal circulating enzyme concentration

description: The concentration or activity of an enzyme in the blood circulation is outside of the limits of the normal range.


name: Abnormal circulating hyaluronic acid concentration

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


name: Focal sensory seizure with cephalic sensation

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


Hyperplasia of the Leydig cells

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


Anti-thyroglobulin antibody positivity

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


Parasite allergy

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


metachromasia of fibroblasts

description: Increased cytoplasmic staining of fibroblasts with toluidine blue.


Polygonal renal calices

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


Cutaneous anergy

description: Inability to react to a delayed hypersensitivity skin test.


Reduced progressive sperm motility

description: A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increased proportion of sperm that move in tight circles or in some other non-linear fashion.


name: Impaired cortisol response to insulin stimulation test

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


name: Increased fucosylation of N-linked protein glycosylation

description: Increased addition of fucose sugar units to N-linked glycans.


Uterine prolapse

description: The presence of prolapse of the uterus.


Onychogryposis

description: Nail that appears thick when viewed on end.


name: Hyperdynamic left ventricular ejection fraction

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


Fractured metacarpus skeleton

description: A partial or complete breakage of the metacarpus skeleton.


Widow's peak

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


Bilateral coxa valga

description: The presence of bilateral coxa valga.


Abnormal HDL2a concentration

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


name: Dust particle inclusion in alveolar macrophages

description: Accumulation of inhaled, nondigestable particles in macrophages.


Bilateral radial aplasia

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


Abnormal blood potassium concentration

description: An abnormal concentration of potassium.


name: Triangular shaped distal phalanx of the 2nd toe


Long term memory impairment

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


name: Triangular shaped distal phalanges of the hand


Neutrophilic infiltration of the skin

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


name: Muscle fiber fuchsinophilic inclusion bodies

description: The presence of inclusion bodies within the cytoplasm of muscle cells that react positively with acid fuchsin.


name: telangiectasia macularis eruptiva perstans


name: Calcification of the small brain vessels

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


Enamel pearls

description: Small nodules of enamel on the root of a tooth.


Aplasia/Hypoplasia of the mandible

description: Absence or underdevelopment of the mandible.


name: Reduced muscle alpha-1,4-glucosidase activity

description: Activity of the enzyme alpha-1,4-glucosidase activity in muscle tissue is below the lower limit of normal.


name: Curved proximal phalanx of the 4th finger


Left ventricular thrombus

description: A blood clot (thrombus) localized in the left ventricle. Left ventricular thrombus is a serious complication of acute myocardial infarction and also of non-ischemic cardiomyopathies.


Abnormal glomerular filtration rate

description: An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.


name: Abnormal hypoxanthine-guanine phosphoribosyltransferase level

description: Altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.


Abnormal ischium morphology

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


Abnormal morphology of the nasal alae

description: An abnormality of the Ala of nose.


inner ear neoplasm

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


Increased inflammatory response

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


Abnormal consumption behavior

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


Absent sternal ossification

description: Lack of formation of mineralized bony tissue of the sternum.


Coronary ostial atresia

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


Anterior pituitary agenesis

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


Weakness of muscles of respiration

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


Overtubulated long bones

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


name: Paresis of extensor muscles of the big toe


Joint swelling

description: The presence of swelling in a joint.


Decreased urinary 3-methylhistidine

description: Decreased concentration of 3-methylhistidine in the urine.


Splayed toes

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


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


Anti-aquaporin 4 antibody positivity

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


name: Complete right sided absence of pericardium

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


name: Abnormal circulating protein concentration

description: An abnormal level of a circulating protein in the blood.


Absent palatine bone ossification

description: Lack of formation of the palatine bone.


name: Delayed somatosensory central conduction time

description: An abnormal increase (delay) in the somatosensory central conduction time (CCT), which can be measured from the peak of N13 to the peak of N20 (peak CCT) or from the onset of N11 to the onset of N20 (onset CCT).


Olivopontocerebellar hypoplasia

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


Abnormal cricoid cartilage morphology

description: Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx.


Cone-shaped epiphyses of the 2nd finger

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


name: Advanced pneumatization of cranial sinuses

description: A degree of pneumatization that is increased compared to age-related norms.


Myoclonic absence seizure

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


Experiential epileptic aura

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


Coronary artery fistula

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


Prenatal double bubble sign

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


Abnormal urinary mineral level

description: An abnormal concentration or amount of a mineral in the urine. Medically relevant minerals include calcium, phosphorus, potassium, sodium, chloride, magnesium, iron, zinc, iodine, chromium, copper, fluoride, molybdenum, manganese, and selenium.


Segmental hypoplasia of liver

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


Hydroureter

description: The distention of the ureter with urine.


name: Abnormal fucosylation of protein N-linked glycosylation

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


name: Cortical radial artery intima/media arteriosclerosis

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


Dystopic os odontoideum

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


name: Polymorphic and polytopic ventricular extrasystoles


Fatigable weakness of chewing muscles

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


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


Persistent stapedial artery

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


name: Elevated circulating o-phosphoethanolamine concentration

description: An increased concentration of o-phosphoethanolamine in the blood circulation.


Gastric volvulus

description: A gastric volvulus occurs when the stomach rotates on itself at least 180 degrees along its transverse or longitudinal axis.


Migrating focal seizure

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


Elevated urinary inosine level

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


name: Anti-contactin-associated protein 1 antibody positivity

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


Short foot

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


name: Milky appearance of bronchoalveolar lavage fluid

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


name: Abnormal circulating collagen degradation product concentration

description: Abnormal concentration in the blood circulation of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease.


name: Translamellar mucoid extracellular matrix accumulation

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


name: Left ventricular noncompaction cardiomyopathy

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


Ipsilateral lack of facial sweating

description: Inability to sweat on the same side of the face that is affected by ptosis and miosis. This is a feature of Horner syndrome.


name: Increased urinary disaccharide excretion

description: Increased concentration of disaccharide in the urine.


Abnormal protein N-linked glycosylation

description: An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein.


Superior pubic ramus hypoplasia

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


name: Elevated urinary 2-oxovaleric acid level

description: The amount of 2-oxovaleric acid in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Reduced hepatic dihydropyrimidinase activity

description: Activity of dihydropyrimidinase in the liver below the lower limit of normal.


Abnormality of abdominal situs

description: An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs.


Aplasia/Hypoplasia of the thumb

description: Hypoplastic/small or absent thumb.


name: thrombophilia due to activated protein C resistance

description: A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance.


Prominent nasal bridge

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


Lack of insight

description: Lack of insight (Anosognosia) is a neurological condition in which an individual is unaware of his or her own neurological deficit or psychiatric condition. Anosognosia can be associated with mental illness, dementia, and structural brain lesions and can affect an indviduals's conscious awareness of deficits involving judgment, emotions, memory, executive function, language skills, and motor ability.


enuresis

description: An elimination disorder characterized by urinary incontinence, whether involuntary or intentional, which is not due to a medical condition and which occurs at or beyond an age at which continence is expected (usually 5 years).


Patchy sclerosis of toe phalanx

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


Bullet-shaped 2nd toe phalanx

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


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

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


Abnormal DLCO

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


Curved middle phalanx of the 3rd finger

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


Reflex asystolic syncope

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


Abnormality of body mass index

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


Marginal umbilical cord insertion

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


Hypoamylasemia

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


name: Yellow subcutaneous tissue covered by thin, scaly skin


Spastic gait

description: Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.


name: Cerebellar ataxia associated with quadrupedal gait

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


name: Diminishment of comfort with casual physical contact

description: A reduction in the tendency of a person to accept casual physical contact with others as compared to that person's previous norm.


Lymphangiosarcoma

description: A malignant neoplasm arising from the endothelial cells of the lymphatic vessels.


name: Pseudoepiphysis of the distal phalanx of the thumb

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


subarachnoid hemorrhage

description: Intracranial hemorrhage into the subarachnoid space.


Hypermobility of interphalangeal joints

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


Abnormal midbrain morphology

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


Patellar hypoplasia

description: Underdevelopment of the patella.


name: Elevated circulating membrane cofactor protein concentration

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


name: Abnormal level of platelet-activating factor


name: Decreased circulating alpha-mannosidase activity

description: Concentration or activity of alpha mannosidase below the lower limit of normal in the blood circulation.


Factor X activation deficiency

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


Absent toenail

description: Congenital absence of the toenail.


Amyelia

description: Congenital absence of the spinal cord.


Abnormality of premolar

description: An abnormality of premolar tooth.


Calcification of muscles

description: Deposition of calcium salts in muscle tissue.


Fluctuating hepatomegaly

description: Intermittently increased size of the liver.


name: Abnormality of the hypothalamus-pituitary axis

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


Anti-factor XIII antibody positivity

description: The presence of an antibody in the blood circulation that is directed against factor XIII.


Toenail dysplasia

description: An abnormality of the development of the toenails.


Oral bleeding

description: Bleeding originating from the mouth.


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


3-methylglutaconic aciduria

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


Increased proportion of memory T cells

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


Neonatal electro-clinical tonic seizure

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


Cystathioninemia

description: An increased concentration of cystathionine in the blood.


Short phalanx of the 5th toe

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


Hypomature dental enamel

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


name: Elevated urinary N-carbamyl-beta-aminoisobutyric acid level

description: The amount of N-carbamyl-beta-aminoisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Inappropriately normal thyroid-stimulating hormone level

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