hyperkeratosis lenticularis perstans

description: Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa.


Patchy sclerosis of hand bones

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


CSF infectious agent

description: The presence of an infectious agent in the cerebrospinal fluid (CSF).


name: Chromosomal breakage induced by crosslinking agents

description: Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C.


name: Patent ductus arteriosus after premature birth

description: Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation.


Diffuse hepatic steatosis

description: A diffuse form of hepatic steatosis.


Hypothalamic gliosis

description: Focal proliferation of glial cells in the hypothalamus.


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

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Molar tooth sign on MRI

description: An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth.


name: Decreased proportion of unswitched memory B cells

description: A reduction below the normal proportion of non-class-switched memory B cells relative to the total number of B cells.


name: Renal tubular basement membrane denudation

description: Naked basement membranes without tubular epithelium.


name: Decreased circulating myo-inositol concentration

description: Concentration of myo-inositol in the blood circulation below the lower limit of normal.


Sclerosis of 4th toe phalanx

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


Abnormal facial shape

description: An abnormal morphology (form) of the face or its components.


monostotic fibrous dysplasia

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

description: Fibrous dysplasia of bone involving only one bone.


name: Malformation of the hepatic ductal plate


Posterior communicating artery aneurysm

description: A widening (ballooning) localized in the wall of the posterior communicating artery.


name: Fractured epiphysis of first metatarsal bone

description: A partial or complete breakage of the epiphysis of first metatarsal bone.


nonsyndromic congenital nail disorder 4

description: Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene.


Focal non-motor seizure

description: A type of focal-onset seizure characterized by non-motor signs or symptoms (or behavior arrest) as its initial semiological manifestation.


name: Partial duplication of the proximal phalanx of the 5th toe

description: Partial duplication of the proximal phalanx of fifth toe.


mastoiditis

description: Inflammation of the mucosal lining of the mastoid antrum and mastoid air cell system of the mastoid process.


Positive fecal parasite test

description: Demonstration of parasite in stool specimen, e.g., Parasites present on wet mount of stool.e


non-immune hydrops fetalis

description: Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders.


Abnormal circulating androgen level

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


Hirano bodies

description: Intracellular aggregates of actin and actin-associated proteins within nerve cells.


Intratesticular abscess

description: A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins.


vitamin A deficiency

description: Deficiency of vitamin A due to malnutrition, malabsorption, or dietary lack. It is manifested with reduced night vision, night blindness, and xerophthalmia.


Increased B cell count

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


name: Reduced circulating fibroblast growth factor 23 concentration

description: The concentration of fibroblast growth factor 23 in the blood circulation is below the lower limit of normal.


Abnormal skeletal muscle morphology

description: A structural abnormality of a skeletal muscle.


Abnormal respiratory system morphology

description: A structural anomaly of the respiratory system.


Misalignment of incisors

description: Misaligned incisor.


Gustatory hallucination

description: Perception of taste without gustatory stimulus.


Aortic laminar medial collapse

description: Architecturally, a compaction of aortic medial elastic fibers that creates thinning of the lamellar unit secondary to a band-like smooth muscle cell loss identified using a stain for elastic fibers.


name: Focal aware cognitive seizure with memory impairment

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


Membranous choanal atresia

description: Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike.


Patchy sclerosis of finger phalanx

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


xanthinuria

description: A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine.


Prolonged Russell's viper venom time

description: Increased time to coagulation in the Russell's viper venom assay


Gastric neurofibroma

description: A neurofibroma (benign peripheral nerve sheath tumor) localized in the stomach.


name: Renal tubular epithelial cell detachment

description: Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved.


name: Elevated circulating linoleylcarnitine concentration

description: Increased concentration of linoleylcarnitine in the blood circulation.


name: Focal aware emotional seizure with paranoia

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


name: Decreased circulating apolipoprotein C-II concentration

description: Reduced concentration of apolipoprotein C-II in the blood circulation.


Sensory behavioral abnormality

description: Abnormal sensory behavior, including avoiding or seeking sensory input or difficulty modulating sensory stimuli.


Beta-EEG

description: EEG dominated by diffuse beta-waves (>13 Hz).


name: Abnormal glomerular capillary lumen morphology

description: Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus.


name: Periventricular white matter hypodensities

description: Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.


Microvesicular hepatic steatosis

description: A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes.


name: Elevated CSF D-glyceric acid concentration

description: The concentration of D-carboxylic acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.


name: Abnormal circulating glutamine concentration

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


name: Abnormal circulating phospholipid concentration

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


Absent urinary urothione

description: Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine.


Enteric neuronal degeneration

description: Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons.


name: Osteolytic defects of the middle phalanx of the 2nd finger

description: Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger.


name: Elevated circulating dodecenoylcarnitine concentration

description: An abnormally increased circulation of dodecenoylcarnitine, C12:1, in the blood circulation.


Esophageal food impaction

description: A piece of food that has gotten stuck in the esophagus and prevents further swallowing.


name: Thickened glomerular basement membranes with no electron dense deposits

description: Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy.


Recurrent viral pneumonia

description: Increased susceptibility to viral pneumonia, as manifested by recurrent episodes of viral pneumonias.


name: Cauliflower deformity of dermal collagen fibrils

description: An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electron microscopy.


Fractured phalanx

description: A partial or complete breakage of the phalanx.


Abnormality of the gallbladder

description: An abnormality of the gallbladder.


Increased urinary thiosulfate

description: Increased concentration of thiosulfate(2-) in the urine.


Submucous cleft hard palate

description: Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.


name: Elevated urine 3,6-epoxydicarboxylic acid level

description: The concentration of 3,6-epoxydicarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal.


Anti-laminin 6 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-6.


Increased CSF glycine concentration

description: Abnormally increased levels of glycine in cerebrospinal fluid.


Polysyndactyly of hallux

description: Combined syndactyly and polydactyly of the great toe.


Congenital shortened small intestine

description: Substantially shortened length of the small intestine as a result of a developmental defect.


anxiety

description: Apprehension of danger and dread accompanied by restlessness, tension, tachycardia, and dyspnea unattached to a clearly identifiable stimulus.


Yellow papule

description: A papule with yellow color.


Impaired binding of factor VIII to VWF

description: Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay.


name: Reduced renal corticomedullary differentiation

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


Abnormal CNS myelination

description: An abnormality of myelination of nerves in the central nervous system.


name: Anti-centromere protein B antibody positivity

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


Paroxysmal supraventricular tachycardia

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


name: Abnormal left ventricular end-diastolic volume

description: Any deviation from the normal range of end-diastolic volume of the left ventricle, which is the volume of blood in the left ventricle at the end of diastole (just before systole).


name: Elevated circulating methylsuccinic acid concentration

description: Increased concentration of methylsuccinic acid in the blood circulation.


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

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


Abnormal nervous system morphology

description: A structural anomaly of the nervous system.


name: Abnormal circulating amino acid concentration

description: The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation.


depersonalization disorder

description: A disorder characterized by persistent or recurrent episodes of feeling detached from one's self (either one's body or one's mental processes), although the sufferer remains aware that this is only a feeling and does not represent reality.


bilateral polymicrogyria

description: Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.


Decreased platelet glycoprotein VI

description: Decreased cell membrane concentration of glycoprotein VI.


Excessive hand washing

description: Hand washing behavior that is excessive for the situational context.


Abnormality of urine bicarbonate level

description: An abnormal amount of hydrogencarbonate in the urine.


Simple febrile seizure

description: A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance.


Fused labia minora

description: Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction.


description: A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein.


Increased serum bile acid concentration

description: An increase in the concentration of bile acid in the blood.


name: Increased LH response to gonadotropin-releasing hormone stimulation test

description: An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormone stimulation test.


name: Abnormal morphology of female internal genitalia

description: An abnormality of the female internal genitalia.


Biceps areflexia

description: Inability to elicit biceps tendon reflex.


Duodenal polyposis

description: Presence of multiple polyps in the duodenum.


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


Eye poking

description: Repetitive pressing, poking, and/or rubbing in the eyes.


Steroetypic upper-extremity movements

description: Abnormal movements of the upper extremities.


Anti-GABA(A)R antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid A receptor, i.e., GABA(A)R.


name: Focal aware cognitive seizure with deja vu/jamais vu

description: A focal cognitive seizure with deja vu / jamais vu characterized by retained awareness throughout the seizure.


name: Impaired visuospatial constructive cognition

description: Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities).


Temporal lobe dysplasia

description: A developmental defect of the temporal lobe of the cerebral cortex that is characterized by prominent sulcations and radially directed gyrations.


name: Inactivating thyroid-stimulating hormone receptor defect

description: Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect.


Elevated urinary carboxylic acid

description: An increased amount of carboxylic acid in the urine.


Multifocal neonatal sequential seizure

description: Multifocal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic multifocal signs.


name: Tubular basement membrane disintegration

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


Heliotrope rash

description: In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower.


Third cranial nerve hypoplasia

description: Underdevelopment of the third cranial nerve (oculomotor nerve).


name: Reduced CSF pyridoxal-5'-phosphate concentration

description: The concentration of pyridoxal-5'-phosphate in the cerebrospinal fluid (CSF) is below the lower limit of normal.


name: Increased circulating adrenic acid concentration

description: An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation.


Abnormal hair morphology

description: An abnormality of the hair.


Placental mesenchymal dysplasia

description: Placental mesenchymal dysplasia is a rare anomaly characterized by placentomegaly, dilatation of chorionic vessels and hydropic stem villi with cistern-like formation. It is often clinically mistaken for a partial hydatidiform mole but there is no trophoblastic proliferation. P57 immunohistochemical expression is discordant, showing a normal positive expression in the cytotrophoblastic cells, and loss of expression in the stromal cells.


name: Hypokalemic hypochloremic metabolic alkalosis


Femoral artery duplication

description: A developmental defect characterized by the presence of a supernumerary femoral artery.


Interlobular vein intimal mucoid edema

description: Accumulation of edematous extracellular matrix in the intima of the interlobular vein of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining.


name: Abnormal distribution of CD56 bright/dim natural killer cells

description: An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56, an adhesion molecule mediating homotypic adhesion, is used as a functional marker for NK cells.


Congenital lactic acidosis

description: A form of lactic acidemia with congenital onset.


Collagenoma

description: A rare hamartomatous malformation characterized by the predominant proliferation of normal collagen fibers and normal, decreased, or increased elastic fibers. Collagenomas may be solitary or multiple, sporadic, acquired or inherited.


name: Increased circulating creatine kinase MB isoform

description: An increased concentration of the MB isoform of creatine kinase in the blood circulation.


Posteriorly placed anus

description: Posterior malposition of the anus.


Skin dimple

description: Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation.


Abnormality of the neck

description: An abnormality of the neck.


shoulder impingement syndrome

description: Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed)


panniculitis

description: Inflammation of the subcutaneous adipose tissue.


Triceps hyporeflexia

description: Reduced intensity of the triceps tendon reflex.


Abnormality of the sublingual glands

description: Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands.


name: Abnormal circulating thyroxine-binding globulin concentration

description: Any deviation from the normal concentration of thyroxine-binding globulin (TBG) in the blood circulation.


Diminishment of social interactions

description: A reduction in the tendency of a person to seek or maintain social connections or interactions with others compared to previous norms for an individual.


name: Abnormal circulating luteinizing hormone concentration

description: An anomaly of the circulating level of luteinizing hormone (LH).


Abnormal cranial nerve physiology

description: A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.


Spinal cord granuloma

description: An aggregation of macrophages (forming in response to chronic inflammation) localized in or on the spinal cord.


Asbestos exposure

description: History of exposure to asbestos, a fibrous mineral with physical and chemical properties that make it resistant to heat and degradation.


supernumerary nostril

description: Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face.


Abnormality of thyroid physiology

description: An abnormal functionality of the thyroid gland.


Short 2nd toe

description: Underdevelopment (hypoplasia) of the second toe.


Abnormal liver physiology

description: Any functional anomaly of the liver.


Positive Murphy sign

description: Murphy's sign is elicited in patients with acute cholecystitis by asking the patient to take in and hold a deep breath while palpating the subcostal region. In practice, Murphy's sign is performed by palpating the subcostal region during inspiration. If pain is elicited and the patient suddenly stops their inspiratory effort, a positive Murphy's sign has been elicited.


lymphatic vessel neoplasm

description: A benign or malignant neoplasm arising from the lymphatic vessels.


Palmar pruritus

description: Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand.


Reduced awareness of convention

description: Reduced awareness of expected conventions, which are normal and expected for particular social settings or interactions.


name: Fibrillary glomerular subepithelial deposits

description: A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).


Aphthous ulcer

description: Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.


Anti-hY-RNA complex antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro60.


Absence seizure with eyelid myoclonia

description: An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterized by forced upward jerking of the eyelids during an absence seizure.


Tapered toe

description: The gradual reduction in girth of the toe from proximal to distal.


name: Elevated brain guanidinoacetate level by MRS

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


Widely spaced primary teeth

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


name: Elevated CSF L-2-hydroxyglutaric acid concentration

description: The concentration of L-2-hydroxyglutaric acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Adrenal cortical sclerosis

description: Abnormal thickening of of the outer layer (cortex) of the adrenal gland due to fibrosis.


Williams-Campbell syndrome

description: A congenital or acquired abnormality of the wall of the bronchi. In congenital cases, there is lack of rigidity in the cartilage of the bronchial wall. In acquired cases, the cartilage of the bronchial wall is degenerated, secondary to tracheostomy or presence of a breathing tube. Symptoms include noisy breathing and wheezing.


name: Elevated urinary succinyladenosine level

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


Nail bed telangiectasia

description: Telangiectases in the area of the nails.


pectus excavatum

description: A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax.


Hyperkeratotic papule

description: A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically).


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


Elevated circulating E selectin level

description: An increased concentration of E selectin in the blood circulation.


name: Sclerosis of the proximal phalanx of the 2nd finger


Aplasia of the uterus

description: Aplasia of the uterus.


name: Increased circulating thyroxine-binding globulin level

description: An elevated concentration of thyroxine-binding globulin (TBG) in the blood.


Abnormally low-pitched voice

description: An abnormal decrease in the pitch of the voice.


Abnormal tibia morphology

description: Abnormality of the tibia (shinbone).


Mixed cirrhosis

description: A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes.


Limb ataxia

description: A kind of ataxia that affects movements of the extremities.


Renal tubular adenovirus inclusions

description: Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage.


Decreased urinary guanosine level

description: The amount of guanosine in the urine, normalized for urine concentration, is below the lower limit of normal. Guanosine is a purine nucleoside in which guanine is attached to ribofuranose via a beta-N(9)-glycosidic bond.


name: Intrauterine fetal demise of one twin after midgestation

description: Loss of one twin occurring after midgestation (17 weeks gestation).


cleft soft palate

description: Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.


name: Increased urinary galactosylated oligosaccharide

description: An abnormal increase in the concentration of galactosylated oligosaccharides in urine.


name: Abnormal glomerular mesangial cellularity

description: Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney.


Lipiduria

description: An increased lipid content in the urine.


Meningioma

description: The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.


Ichthyosis follicularis

description: Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed.


peripheral nervous system neoplasm

description: A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths.


Ectopic gallstone

description: A gallstone located outside of the gallbladder.


name: Abnormal curvature of the vertebral column

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


Abnormal libido

description: Any deviation from the normal sexual drive or desire for sexual activity.


Pontine ischemic lacunes

description: Lacunes are infarcts less than 15 mm in diameter in the cortical white matter or in the corona radiata, internal capsule, centrum semiovale, thalamus, basal ganglia, or pons.


Shortening of all phalanges of the toes

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


Anti-insulin antibody positivity

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


Delayed adrenarche

description: Occurence of adrenarche at a later than normal age. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. It is accompanied by changes in pilosebaceous units, a transient growth spurt and the appearance of axillary and pubic hair in some children, but no sexual development.


Renal interstitial fibrosis

description: The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic.


Inertia

description: Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example).


Action tremor

description: A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.


Ascending tubular aorta aneurysm

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


sternal cleft

description: Sternal cleft (SC) is a rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated.


Intellectual disability, progressive

description: The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.


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

description: Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue.


Tibial arterial calcification

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


Pulmonary chondroma

description: A benign cartilaginous tumors of the lung.


Hypertyrosinemia

description: An increased concentration of tyrosine in the blood.


name: Abnormal distribution of cell junction proteins in buccal mucosal cells

description: An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43.


Ectopic adrenal gland

description: Abnormal anatomical location of the adrenal gland.


Increased urine urobilinogen

description: An elevated concentration of urobilinogen in the urine.


oophoritis

description: Inflammation of the ovary, generally caused by an ascending infection of organisms from the endocervix.


name: Decreased pancreatic acinar cell density

description: Number (count) of pancreatic acinar cells reduced below normal. This feature can be ascertained by pancreas biopsy.


name: Anti-intrinsic factor antibody positivity

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


Pointed chin

description: A marked tapering of the lower face to the chin.


Diminishment of relationship seeking

description: A reduction in the tendency of a person to seek new interpersonal relationships or maintain existing relationships.


Elevated brain polyol compounds by MRS

description: An increase in the level of polyol compounds in the brain identified by magnetic resonance spectroscopy (MRS).


Cystic acne

description: A severe type of acne characterized by the formation of cysts enclosing a mixture of keratin and sebum.


name: Decreased circulating inhibin B concentration

description: The concentration of inhibin B in the blood circulation is below the lower limit of normal.


Cystic medial necrosis

description: A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells.


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

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


Anetoderma

description: Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis.


name: Increased hepatitis B virus antibody level

description: An abnormally increased level of immunoglobulin against hepatitis B virus in the blood.


name: Posterior communicating artery infundibulum

description: A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery.


sensory peripheral neuropathy

description: Inflammation or degeneration of the sensory nerves.


Highly elevated creatine kinase

description: An increased CPK level between 4X and 50X above the upper normal level.


Increased urinary epithelial cell count

description: An increased number of epithelial cells per high-power field in urinanalysis.


Sclerosis of 4th finger phalanx

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


name: Microvillar PAS-positive secretory granules

description: The presenceaccumulationof periodic acid-Schiff (PAS) granules in the subapical region of small intenstinal microvilli, appearing as different kinds of vesicular/tubular structures.


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


Elevated urine pyrophosphate

description: An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.


name: Impaired von Willebrand factor collagen binding activity

description: Reduced ability of von Willebrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers.


Agenesis of premolar

description: Agenesis of premolar tooth.


name: Orofacial action-specific dystonia induced by speech


Focal aware myoclonic seizure

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


name: Intermittent episodes of respiratory insufficiency due to muscle weakness


Chin with horizontal crease

description: Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest.


name: Complete duplication of the middle phalanx of the 4th toe

description: Complete duplication of middle phalanx of fourth toe.


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

description: The distal interphalangeal joint of the 2nd toe cannot be straightened actively or passively.


Agenesis of second permanent molar

description: Agenesis of either mandibular second permanent molar or maxillary second permanent molar.


name: Glomerular PLA2R immune-complex deposition

description: Accumulation of immune deposits, containing auto-antibodies against the podocyte antigen M-type phospholipase A2 receptor (PLA2R) in intraglomerular locations.


name: Patchy sclerosis of the proximal phalanx of the 5th finger

description: Patchy increase in bone density of the proximal phalanx of the 5th finger.


Decreased circulating IgE

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


cervical intraepithelial neoplasia

description: Squamous or glandular intraepithelial neoplasia that affects the cervical mucosal epithelium. There is no evidence of stromal invasion. According to the degree of cellular atypia and the associated architectural changes, it is classified as low or high grade.


Generalized lymphadenopathy

description: A generalized form of lymphadenopathy.


Early cutaneous photosensitivity

description: Photosensitivity of the skin occurring early in life.


Photosensitive myoclonic seizure

description: Generalised myoclonic seizure provoked by flashing or flickering light.


name: Elevated circulating deoxyuridine concentration

description: Concentration of 2-deoxyuridine in the blood circulation is above the normal range.


Cotard delusion

description: A false belief that you or your body parts are dead, dying, or do not exist.


Paroxysmal nocturnal dyspnea

description: Attacks of breathlessness that occur at night and may awaken the sleeping patient.


Incomplete cleft hard palate

description: Cleft hard palate in which the cleft does not go through the entire length of the hard palate, ie. the cleft does not go from the incisor foramen to the anterior border of the soft palate.


Homoargininuria

description: An increased amount of homoarginine in the urine. Homoarginine is a nonproteinogenic alpha amino acid.


Increased level of ribose in urine

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


name: Abnormal inferior thyroid vein morphology

description: An abnormality of an inferior thyroid vein.


Parathyroid hypoplasia

description: Developmental hypoplasia of the parathyroid gland.


name: Increased level of L-pyroglutamic acid in urine

description: An increase in the level of L-pyroglutamic acid in the urine.


Pulmonary lymphangiectasia

description: Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid.


name: Cortical radial artery intraluminal thrombi

description: Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen within the interior space of cortical radial arteries (interlobular arteries) of the kidney.


Fourth heart sound

description: The fourth heart sound (S4) is a low-pitched sound that occurs just before the first heart sound (S1) when the atria contract to force blood into the left ventricle, that is, coincident with late diastolic filling of the ventricle due to atrial contraction.


Myocardial late gadolinium enhancement

description: Areas of high signal intensity in magnetic resonance imaging of the heart appearing 10 to 15 minutes after injection of the intercellular contrast agent gadolinium.


name: Increased circulating very long-chain fatty acid concentration

description: Increased concentation of very long-chain fatty acids in the blood circulation. Very long-chain fatty acids are fatty acids (FAs) with a chain-length of 22 or more carbons.


description: Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina.


Convex contour of sole

description: The contour of the foot in lateral profile has a convex shape.


Urethral atresia, female

description: Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females.


spondylosis, cervical

description: Arthritis of the cervical spine.


name: Abnormal circulating thyroid hormone concentration

description: Any deviation from the normal range of the hormones produced by the thyroid gland.


Renal arteriolar intraluminal thrombi

description: Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arterioles of the kidney.


familial dermatographia

description: Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment may involve use of antihistamines if symptoms do not go away on their own.


Widened atrophic scar

description: An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility.


Abnormal language feature

description: The presence of any atypical form of expressive language.


Enlarged Eustachian valve

description: An abnormally large Eustachian valve (postnatally). The Eustachian valve is also known as the valve of the inferior vena cava, and is an embryologic remnant of the valve of the inferior vena cava.


acute megakaryoblastic leukemia

description: Acute megakaryoblastic leukemia (AMKL) is a form of acute myeloid leukemia (AML) that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis.


name: Elevated circulating pipecolic acid concentration

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


name: Elevated urine 2-methylacetoacetic acid level

description: Amount of 2-methylacetoacetic acid in the urine above upper limit of normal.


CSF pleocytosis

description: An increased white blood cell count in the cerebrospinal fluid.


Thickening of glomerular capillary wall

description: Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself.


name: Elevated left ventricular end-diastolic diameter

description: The LV end-diastolic internal diameter was measured from two-dimensional (2D) images in the parasternal long-axis view, timed with mitral valve closure at the level of the mitral valve chordae.


Flexion contracture of the 2nd finger

description: Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected.


congenital coronary artery anomaly

description: Any structural abnormality of the coronary arteries.


name: Triangular epiphysis of the proximal phalanx of the hallux


name: Eye of the tiger anomaly of globus pallidus

description: The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity of the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. The sign is thought to represent iron accumulation in the globus pallidus.


Triceps weakness

description: A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements.


Deviated nasal septum

description: Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum.


Penetrating aortic ulcer

description: A focal defect in the elastic lamina of the aortic wall that leads to localized medial disruption and potential rupture.


name: anomalous left coronary artery from the pulmonary artery

description: A congenital coronary vessel anomaly in which the left main coronary artery originates from the pulmonary artery instead of from aorta. The congenital heart defect typically results in coronary artery fistula; left-sided heart failure and mitral valve insufficiency during the first months of life.


Abnormal renal glomerulus morphology

description: A structural anomaly of the glomerulus.


name: Duplication of the distal phalanx of the 3rd finger

description: Partial or complete duplication of the distal phalanx of middle finger.


Disturbed perception with a stimulus

description: A perceptual experience in which an individual's perception of sensory stimuli is altered or disrupted in some way, resulting in abnormal or distorted sensory perceptions despite the presence of actual external stimuli.


name: Fractured middle phalanx of manual digit 3

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


name: Acute disseminated intravascular coagulation

description: An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed.


Rete ridge flattening

description: Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance.


Sclerosis of 3rd finger phalanx

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


Motor axonal neuropathy

description: Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg.


name: Increased circulating selenium concentration

description: An increased concentration of selenium in the blood circulation.


Anagen effluvium

description: An abnormal loss of anagen (growth phase) hairs.


name: Focal aware cognitive seizure with anomia

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


Transient decreased circulating IgA

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


Abnormal mouth floor morphology

description: Any abnormality of the mouth floor.


name: Monoclonal elevation of IgG lambda chain

description: A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a lambda light chain but not a heavy chain.


Renal glomerular amyloid deposition

description: Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries.


Abnormal lower motor neuron morphology

description: Any structural anomaly of the lower motor neuron.


name: Paradoxical splitting of the second heart sound

description: Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. With paradoxical splitting, there is a delay in the closure of the aortic valve, so that A2 can follow P2; the individual components can be appreciated at the end of expiration and the interval narrows with inspiration (which is the oposite of the normal pattern).


chromhidrosis

description: A rare condition characterized by the secretion of colored sweat, caused by the deposition of lipofuscin in the sweat glands. Usually chromhidrosis affects the apocrine glands, mainly on the face and underarms.


Mucinous colorectal carcinoma

description: A subtype of colorectal carcinoma with mucin lakes.


Foramen ovale aneurysm

description: Foramen ovale aneurysm (FOA) or atrial septal aneurysm is abnormal redundancy of the atrial septum primum, with bulging of the septum by at least half the width of the atrial chamber, or by at least 10 mm beyond the level of the atrial septum. The abnormal protrusion of the interatrial septum results in decreased left atrial volume. On color Doppler there is reduced left ventricular inflow.


Suck reflex

description: A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner's finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched.


name: Transphyseal fracture of the distal humerus

description: A fracture through the distal humeral physis that separates the entire distal humeral epiphysis from the metaphysis.


Inappropriate crying

description: Uncontrolled episodes of crying occur without any apparent motivating stimuli.


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

description: Partial or complete duplication of middle phalanx of second toe.


name: Renal medullary interstitial inflammation

description: Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells.


Overlapping toe

description: Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent.


name: Aplasia of the pyramids of the medulla oblongata

description: Congenital absence of the pyramids, that is, of the paired structures located at the medial aspect of the ventral medulla that flank the anterior median fissure.


Impaired heel-walking ability

description: Difficulty or reduced ability to walk on heels. Heel-walking can be tested as a part of the neurological examination. Foot dorsal extention weakness leads to difficulties in walking on heels.


Genital edema

description: A buildup of fluid that causes swelling in the soft tissues of the genital area.


Asymmetric abdominal aortic aneurysm

description: An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric).


Abnormal papillary muscle morphology

description: Any structural anomaly of the papillary muscles of the left ventricle.


rhabdoid tumor

description: An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor.


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

description: A reduced proportion of CD8-positive, alpha-beta effector memory 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.


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

description: Partial duplication of middle phalanx of third toe.


Abnormal cerebral vascular morphology

description: An anomaly of the cerebral blood vessels.


Gastric varix

description: Extreme dilation of the submucusoal veins in the stomach.


name: Elevated CSF dihydrouracil concentration

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


Increased serum prostaglandin E2

description: An increased concentration of prostaglandin E2 in the blood.


Anti-FGFR3 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against FGFR3.


name: Corticotropin-releasing hormone deficient adrenal insufficiency

description: Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production.


name: Abnormal morphology of the limbic system

description: Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex].


name: Fixated interest with abnormal intensity

description: An abnormally intense interest in a topic or object that is not atypical for the social context of the affected person.


name: Proximal/middle symphalangism of 3rd toe

description: Bony fusion of the middle and proximal phalanges of the 3rd toe.


name: Loss of ability to walk in early childhood


Abnormality of prothrombin

description: An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade.


Abnormal oral frenulum morphology

description: An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity.


Anti-Zic4 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Zic family member 4 (ZIC4).


arrhinia

description: Arrhinia is an extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia.


name: Enlarged epiphysis of the proximal phalanx of the hallux


name: Right aortic arch with left descending aorta and left ductus arteriosus


Right bundle branch block

description: A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.


Malformation of mandibular premolar

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


name: Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration

description: The concentration of 2-trans,4-cis-decadienoylcarnitine in the blood circulation is above the upper limit of normal.


Abnormal S wave

description: Any anomaly of the S wave, which is the third component of the QRS wave complex. The S wave signifies the final depolarization of the ventricles at the base of the heart.


name: Enhanced ristocetin cofactor assay activity

description: Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma.


non-syndromic amelia

description: A congenital malformation characterized by the complete absence of all limbs.


Coronary-pulmonary artery fistula

description: A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery.


Reduced natural killer cell count

description: Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor.


hypercementosis

description: A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)


name: Focal sensory seizure with visual features

description: A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation.


Neonatal focal clonic seizure

description: Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is unilateral regularly repeating jerking involving the same muscle groups.


Absent sebaceous glands

description: Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.


Abnormal Bowman capsule morphology

description: A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule.


hyperprolinemia

description: Hyperprolinemia is when there isan excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern.


Decreased circulating IgG1 level

description: A reduction in immunoglobulin levels of the IgG1 subclass in the blood circulation.


Microscopic nephrocalcinosis

description: The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma.


Maternal hyperphenylalaninemia

description: A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy.


congenital pulmonary veins anomaly

description: Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium.


Kyphoscoliosis

description: An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.


name: Aplasia of the inferior half of the cerebellar vermis


Decreased circulating renin level

description: An decreased level of renin in the blood.


name: Focal impaired awareness cognitive seizure with deja vu/jamais vu

description: A focal cognitive seizure with deja vu / jamais vu characterized by impairment of awareness at some point during the seizure.


Cardiac valve calcification

description: Abnormal calcification of a cardiac valve.


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


Abnormality of blood volume homeostasis

description: An abnormality in the amount of volume occupied by intravascular blood.


name: Reduced reticular lamina anchoring fibril density

description: Diminished amount of the anchoring fibrils in the basement membrane zone that normally attach the epithelium to the basement membrane.


dens evaginatus

description: Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown).


name: Stippling of the epiphyses of the 5th finger

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


Multiple joint dislocation

description: Dislocation of many joints.


name: Arcuate artery endoarterial foam cell hypercellularity

description: A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen.


Acute hepatic steatosis

description: An acute form of hepatic steatosis.


Macroorchidism

description: The presence of abnormally large testes.


Nail psoriasis

description: Psoriatic nail abnormality characterized by the presence of neutrophils in the nail bed epithelium, hyperkeratosis with parakeratosis, presence of exudates on the corneal epithelium, focal hypogranulosis and psoriasiform hyperplasia of the nail bed.


Anti-H3-H4 antibody positivity

description: The presence of autoantibodies in the blood circulation that react against the H3-H4 histone dimer.


Redundant neck skin

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


Reduced sperm motility

description: An abnormal reduction in the mobility of ejaculated sperm.


Diminishment of sexual behavior

description: A reduction of libido (sexual desire), typically accompanied by a reduction in the frequency of sexual activity , and/or activity compared to the affected individual's previous state.


corpus callosum lipoma

description: A rare benign adipose tissue neoplasm of the corpus callosum.


Abnormal parathyroid morphology

description: A structural abnormality of the parathyroid gland.


name: Reduced sex -hormone binding protein level

description: A decreased concentration of sex-hormone binding protein in the circulation.


Facial nerve compression

description: Impingement of another object such as a blood vessel upon the facial nerve, causing it to lose volume in the compressed region.


Amplification of social interactions

description: A increase in the tendency of a person to seek or maintain social connections or interactions with others compared to previous norms for an individual.


name: Focal impaired awareness cognitive seizure with forced thinking

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


Hyperosthenuria

description: An abnormally high urinary specific gravity, i.e., increased concentration of solutes in the urine.


Hypoplasia of the radius

description: Underdevelopment of the radius.


Irregularly shaped sperm tail

description: Irregular or changing caliber (diameter) along the tail of the sperm.


Redundant skin

description: Loose and sagging skin often associated with loss of skin elasticity.


Pleural rub

description: An abnormal breath sound that is nonmusical, short and explosive. It is grating, rubbing, creaky, or leathery in character and present in both phases of respiration. Typically the expiratory component mirrors the inspiratory component. It occurs due to inflamed pleural surface rubbing each other during breathing. Clinically, it is important to differentiate it from crackles


Sexsomnia

description: Unintentional sexual behavior during sleep, such as masturbation, initiation of sex, or making sexual noises, is known as sexsomnia. Sexsomnia predominantly occurs during NREM sleep.


Limb-girdle muscle weakness

description: Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis.


Glomerular hyaline pseudothrombus

description: Intracapillary amorphous, eosinophilic material consisting of immune deposits.


name: Osteolytic defects of the distal phalanx of the 2nd finger

description: Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger.


name: Cone-shaped epiphysis of the proximal phalanx of the 3rd toe


name: Multilamellation of medullary peritubular capillary basement membranes

description: Duplicated basement membranes of the peritubular capillaries located in the medulla of the kidney and arranged in multiple concentric layers.


Decreased level of thrombomodulin

description: Thrombomodulin is a cofactor in the thrombin induced activation of Protein C. In the case of deficiency there will be less Protein C and tendency to clot


Abnormal sputum

description: Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin.


Elevated urinary xanthurenic acid level

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


Intense psychological distress to cues

description: Intense or prolonged psychological distress occurs when individuals are exposed to internal or external cues that symbolize or resemble an aspect of the traumatic event or events.


Intellectual disability, moderate

description: Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.


Abnormal manganese concentration

description: A deviation from the normal range of manganese in the blood circulation.


Positive stool infectious agent test

description: Any kind of test for an infectious agent in stool positive.


Palate mass

description: A lump in the region of the palate. A mass is any lump in the body that can be caused by the abnormal growth of cells, a cyst, hormonal changes or an immune reaction. Typically a mass is an initial finding that will lead to additional workup.


name: Decreased lymphocyte proliferation in response to mitogen

description: A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA).


name: Abnormal circulating hormone concentration

description: Concentration of a hormone in the blood circulation outside of normal limits.


Glomerular subepithelial deposits

description: Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).


Intermittent hyperventilation

description: Episodic hyperventilation.


Intratubular calcium oxalate casts

description: Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney.


Hypermelanotic macule

description: A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.


White streaks/specks on enamel.

description: Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks.


Spastic monoplegia

description: Spastic weakness found in only one upper or lower extremity.


pilocytic astrocytoma

description: Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but occurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported.


Slurred speech

description: Abnormal coordination of muscles involved in speech.


capillary malformation

description: A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules).


Abnormal arachnoid mater morphology

description: An abnormality of the Arachnoid mater.


name: Pulmonary arterial hypertension with positive acute response to NO challenge

description: A form of pulmonary arterial hypertension in which there is a reduction of mean pulmonary artery pressure (mPAP) at leasy 10 mmHg to reach an absolute value of mPAP not more than 40 mmHg with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm.


name: Aortic smooth muscle cell disorganization

description: Nonparallel arrangement/disarray of smooth muscle cells of the aortic media creating focal/multifocal disarray or sometimes nodular aggregates of smooth muscle cells.


Abnormal superficial reflex

description: An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons.


Abnormal dendritic cell count

description: A deviation from the normal count of dendritic cells in the peripheral blood circulation. Dendritic cells are of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative).


Abnormal metatarsal ossification

description: Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years.


Abnormal circle of Willis morphology

description: An anomaly of the circle of Willis, also known as the cerebral arterial circle.


Cutaneous syndactyly of toes

description: A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria.


name: Increased anti-insect IgE antibody level

description: Increased level of IgE antibody against antigens from insects such as moths, mosquitos, or cockroaches.


Abnormal clitoris morphology

description: Any structural abnormality of the clitoris.


name: Increased circulating ceruloplasmin concentration

description: Elevated concentration of ceruloplasmin in the blood circulation.


Distal tibial bowing

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


Osteochondroma

description: A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone.


name: leishmaniasis, tegumentary, susceptibility to

description: Increased susceptibility to infection by the protozan parasite of the genus Leishmania.


Reduced FEV1/FVC ratio

description: Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity).


name: Sclerosis of the proximal phalanx of the hallux


EEG with parietal sharp slow waves

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


Abnormality of glycolysis

description: An abnormality of glycolysis.


Inferior vena cava obstruction

description: Physical invasion or compression of the inferior vena cava by a pathological process or by thrombosis within the vein itself.


name: Increased circulating inosine concentration

description: An increased concentration of inosine in the blood circulation.


name: Ivory epiphyses of the distal phalanges of the hand

description: Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


name: Abnormal TSH response to thyrotrophin-releasing hormone stimulation test

description: Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesized by, stored within, and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal response in the TRH stimulation test.


name: Abnormal glomerular mesangial matrix morphology

description: Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix.


Global proximal tubulopathy

description: A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis.


Clumsiness

description: Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.


name: Parkinsonism with favorable response to dopaminergic medication

description: Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication.


Derealization

description: Depersonalization is a subjective experience in which an individual feels a sense of detachment or estrangement from their surroundings, leading to a distorted perception of the external world. It is characterized by a feeling of unreality or unfamiliarity with one's environment, as if things are dreamlike, artificial, or lacking in significance.


Increased urinary potassium

description: An increased concentration of potassium(1+) in the urine.


Ventral shortening of foreskin

description: Reduction in length of the ventral (lower) skin of prepuce of penis.


Molarization of premolar

description: Increased size and molar morphology of premolar tooth.


name: autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius

description: Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum.


Aplasia/Hypoplasia of toe

description: Absence or hypoplasia of toes.


name: Bilateral asymmetric neonatal sequential seizure

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


Babinski sign

description: Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.


Midline direction of ventricular apex

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


name: Cerebellar dentate nucleus calcification

description: Pathological deposition of calcium salts in the dentate nucleus of the cerebellum.


name: Focal cognitive seizure with receptive dysphasia/aphasia

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


Aglossia

description: Absence of the tongue owing to a developmental abnormality.


Beta-alaninuria

description: An increased level of beta-alanine in the urine.


phosphaturic mesenchymal tumor

description: An extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues or bones. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor.


Bladder rupture

description: A perforation in the wall of the urinary bladder. Bladder rupture, a relatively rare condition, is most commonly due to abdominal or pelvic trauma but may be spontaneous or iatrogenic in association with surgical or endoscopic procedures. In most cases, patients with bladder rupture have gross hematuria. Other symptoms of bladder rupture include pelvic pain, lower abdominal pain, and difficulty voiding.


Glomerular basement membrane lucencies

description: Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits.


cardiac diverticulum

description: Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse.


Abnormality of renal excretion

description: An altered ability of the kidneys to void urine and/or specific substances.


Inattentiveness illusion

description: Instances in which individuals fail to perceive or notice salient or significant stimuli in their visual field due to a lack of attention.


Fractured proximal phalanx of digit 5

description: A partial or complete breakage of the proximal phalanx of digit 5.


Uraciluria

description: Increased concentration of uracil in the urine.


Reduced consciousness

description: Abnormally diminished level of attention, responsiveness, or wakefulness.


Portal vein hypoplasia

description: A developmental defect characterized by underdevelopment of hte portal vein.


Decreased pineal volume

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


name: Triangular shaped phalanges of the 4th toe


Elevated fecal sodium

description: An elevated concentration of sodium in feces.


Renal vasculitis

description: Vasculitis (inflammation of blood vessels) in the kidney. Renal vasculitis can be observed with numerous disorders and presents clinically as rapidly progressive glomerulonephritis (RPGN) which is characterized by acute kidney injury (AKI), haematuria and proteinuria. Histological examination of the kidney reveals severe inflammation in the form of crescent formation, glomerular necrosis and vasculitis of small and medium sized vessels within the kidney.


Duplication of phalanx of toe

description: Partial/complete duplication of one or more phalanx of toe.


name: Pubertal developmental failure in females


Tonic seizure

description: A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.


Compression-fractured cervical vertebra

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


Cortical radial artery endotheliosis

description: Enlargement of endothelial cells of the cortical radial arteries (also known as the interlobular arteries) of the kidney because of cytoplasmic swelling.


Semantic dementia

description: A progressive loss of the ability to remember the meaning of words, faces and objects.


name: Focal impaired awareness sensory seizure with somatosensory features

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


name: Decreased urine alpha-ketoglutarate concentration

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


Aplasia/Hypoplasia of the colon

description: Congenital absence or underdevelopment of the colon.


Absent specific antibody response

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


pineoblastoma

description: Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis.


Thymic cyst

description: A closed sac of tissue (cyst) located in the thymus. Thymic cysts are a rare, benign anomaly, are usually asymptomatic, and mostly occur in the anterior mediastinum .


Anti-Lrp4 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against low-density lipoprotein receptor (Lrp4).


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


Akathisia

description: A state of motor restlessness, usually in the lower extremities, that is often but not always accompanied by a subjective sense of inner restlessness, an urge to move, and anxiety or dysphoria.


Cutaneous telangiectasia

description: Dilated blood vessels on the skin.


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


name: Elevated brain gamma-aminobutyric acid by MRS

description: An increase in the level of gamma-aminobutyric acid (GABA) in the brain identified by magnetic resonance spectroscopy (MRS).


Ivory epiphysis of the 1st metacarpal

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


Decreased CD4:CD8 ratio

description: An abnormal reduction of the relative proportion of CD4+ to CD8+ T cells.


Palmoplantar erythema

description: Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin.


Absent nail of hallux

description: Absent nail of big toe.


Testicular ischemia

description: Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the tissue. Clinical manifestations may include pain and swelling of the affected testis.


Head titubation

description: A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction.


Anti-GAD65 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamic acid decarboxylase 65 (GAD65).


Elevated urinary dopamine level

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


Abnormal CSF carnosine concentration

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


primary central nervous system lymphoma

description: A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis.


name: Antidromic atrioventricular reentrant tachycardia

description: A type of atrioventricular reentrant tachycardia (AVRT) where the accessory pathway is used for anterograde conduction and the atrioventricular node for retrograde conduction.


name: Focal impaired awareness automatism seizure

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


anotia

description: A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development.


name: Elevated prostate-specific antigen level

description: An increased concentration of prostate specific antigen (PSA) in the circulation.


Aplasia/Hypoplasia of the external ear

description: The presence of aplasia or developmental hypoplasia of all or part of the external ear.


name: Increased circulating chylomicron concentration

description: Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.


Increased serum estradiol

description: An elevation above normal limits of the concentration of estradiol in the circulation.


Abnormal helper T cell proportion

description: Abnormal proportion of helper T cells relative to the total number of T cells.


choanal atresia, bilateral

description: Bilateral choanal atresia is a congenital anomaly that is usually sporadic (but some familial cases have been reported), is more commonly seen in females than in males (2:1), and where the nose is blocked on both sides by bony or soft tissue formed during embryological development. It is characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth.


Mandibular pain

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


Distal lower limb muscle weakness

description: Reduced strength of the distal musculature of the legs.


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

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


Extreme axis deviation

description: A kind of abnormal ventricular axis in the EKG whereby the QRS axis fall sbetween -90 degrees and 180 degrees. In this case, the ventricular vector is directed upward and to the right.


name: Supraventricular tachycardia with a concealed accessory connection

description: Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed becasue it is not seen on the ECG during sinus rhythm.


Ectopia of the spleen

description: An abnormal (non-anatomic) location of the spleen.


name: Decreased circulating carnitine concentration

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


Neonatal epileptic spasm

description: A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: grimacing, head nodding, or subtle eye movements. May occur in clusters.


congenital mesoblastic nephroma

description: A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis.


Duplication of phalanx of the 3rd toe

description: Partial or complete duplication of phalanx of third toe.


name: Ph-positive acute lymphoblastic leukemia

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


Increased peripheral blast count

description: An increased count in the peripheral blood of cells that are precursors to mature circulating blood cells such as neutrophiles, monocytes, lymphocutes, and erythrocytes. Blasts are not usually found in significant numbers in the peripheral blood circulation, but can be observed in hematopoietic neoplasms such as leukemia, severe infections, and as a result of certain medications.


Antineutrophil antibody positivity

description: The presence of autoantibodies in the serum that react against neutrophils.


Short third metatarsal

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


name: Elevated circulating vasoactive intestinal peptide concentration

description: The concentration of vasoactive intestinal peptide (VIP) in the blood circulation is above the upper limit of normal.


name: Elevated circulating carnitine concentration

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


Abnormal fifth cranial nerve morphology

description: Any structural abnormality of the fifth cranial nerve.


name: Elevated urinary prostaglandin E2 metabolite level

description: An increased amount of prostaglandin E2 metabolite (PGE-M) in the urine.


Mild hearing impairment

description: The presence of a mild form of hearing impairment.


Peripheral cyanosis

description: Bluish discoloration of the distal extremities (hands, fingertips, toes), and can sometimes involve circumoral and periorbital areas. Mucous membranes are generally not involved.


Mosaic pulmonary attenuation pattern

description: Mosaic attenuation refers to heterogeneous areas of differing pulmonary attenuation on CT imaging.


Decreased circulating glycerol level

description: A decrease below the normal concentration of glycerol in the blood.


Lower lip pit

description: Depression located on the vermilion of the lower lip, usually paramedian.


name: Accumulation of melanosomes in melanocytes


Pregnancy history

description: Medical history of maternal diseases, exposures, or other relevant findings during the pregnancy of which the index person was the product.


name: Decreased level of histidine-rich glycoprotein

description: Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation


Ethylmalonic aciduria

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


Abnormal sacrum morphology

description: An abnormality of the sacral bone.


fetal lower urinary tract obstruction

description: An obstruction in the ureter leading to bladder outlet obstruction. Special criteria are used for lower urinary tract obstruction (LUTO) in the fetus. Prenatal LUTO has classically been suspected on the basis of three ultrasonographic findings: megacystis, dilated posterior urethra (known as the keyhole sign) and hydronephrosis.


Abnormal pituitary stalk morphology

description: A structural anomaly of the pituitary stalk, also known as the infundibulum or infundibular stalk, is the connection between the hypothalamus and the pituitary gland.


Unilateral facial palsy

description: One-sided weakness of the muscles of facial expression and eye closure.


Cerebral hamartoma

description: The presence of a hamartoma of the cerebrum.


name: Symphalangism affecting the phalanges of the hallux


name: Abnormal cardiac magnetic resonance imaging finding

description: Abnormal finding by magnetic resonance imaging (MRI), which uses non-ionizing radiation via a strong magnetic field and radio frequency energy to generate three dimensional images. This term comprises findings that are specific to MRI. Findings such as ventricular spetum defect that can be detected by multiple modalities should be coded separately.


Abnormality of renin-angiotensin system

description: An abnormality of the renin-angiotensin system.


name: Patchy sclerosis of proximal phalanx of finger

description: Uneven increase in bone density of the proximal phalanges of the hand.


name: Focal impaired awareness autonomic seizure with pallor/flushing

description: A focal autonomic seizure with pallor / flushing characterized by impaired awareness at some point during the seizure.


Androgen insufficiency

description: Insufficient amount of androgenic activity.


name: Aplasia cutis congenita over parietal area

description: A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area.


Arm dystonia

description: A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms.


name: Aplasia cutis congenita on trunk or limbs

description: A developmental defect resulting in the congenital absence of skin on the trunk or the limbs.


Abnormal palatine bone morphology

description: An abnormality of the palatine bone.


Colon perforation

description: A hole (perforation) in the wall of the colon.


Reduced haptoglobin level

description: An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state.


Anti-histone antibody positivity

description: The presence of autoantibodies in the blood circulation that react against histone antigens.


Abnormality of the pharynx

description: An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.


Anticardiolipin IgG antibody positivity

description: The presence of circulating IgG autoantibodies to cardiolipin.


hyperpituitarism

description: Disease of the glandular, anterior portion of the pituitary (pituitary gland, anterior) resulting in hypersecretion of adenohypophyseal hormones such as growth hormone; prolactin; thyrotropin; luteinizing hormone; follicle stimulating hormone ; and adrenocorticotropic hormone. Hyperpituitarism usually is caused by a functional adenoma.


name: Decreased circulating ferritin concentration

description: Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood.


name: Anti-SUMO-activating enzyme antibody positivity

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


Abnormality of pain sensation

description: Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain.


name: Elevated circulating beta chorionic gonadotropin concentration

description: The concentration of beta chorionic gonadotropin in the blood circulation is above the upper limit of normal.


name: Elevated circulating CA19-9 concentration

description: Concentration of CA19-9 above the upper limit of normal.