Seesaw nystagmus

description: Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements.


Retinal flecks

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

description: Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions.


Areflexia of upper limbs

description: Inability to elicit tendon reflexes in the upper limbs.


Hemeralopia

description: A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness.


Anasarca

description: An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space.


Reactive hypoglycemia

description: Hypoglycermia following a meal (or more generally, after intake of glucose).


Low serum calcitriol

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


name: Decreased circulating calcifediol concentration

description: A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3.


name: Urinary excretion of sialylated oligosaccharides

description: Excretion of oligosaccharides conjugated to sialic acid in the urine.


Unicameral bone cyst

description: A benign fluid filled simple cyst of bone filled with serous fluid.


Multiple bony cystic lesions

description: Presence of multiple cystic changes in multiple areas or multiple bones.


name: Increased urinary disaccharide excretion

description: Increased concentration of disaccharide in the urine.


Glycopeptiduria

description: Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues.


Keratan sulfate excretion in urine

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


Chondroitin sulfate excretion in urine

description: An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine.


name: Abnormal circulating acylcarnitine concentration

description: Any deviation from the normal concentration in the blood circulation of an acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.


Aciduria

description: Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration.


Abnormal urinary acylglycine profile

description: An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution.


Motor conduction block

description: Blockade of impulses at a focal site along the course of a motor axon.


Abnormality of central motor conduction

description: Any anomaly of the conduction of motor nerve impulses in the central nervous system.


Cerebellar granular layer atrophy

description: Atrophy of the cerebellum affecting primarily the granular cell layer.


Enlarged cerebellum

description: An abnormally increased size of the cerebellum compared to other brain structures.


Cerebellar Purkinje layer atrophy

description: Atrophy of the cerebellum affecting primarily the Purkinje cell layer.


name: Ubiquitin-positive cerebral inclusion bodies

description: Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain.


name: Abnormality of skeletal muscle fiber size

description: Any abnormality of the size of the skeletal muscle cell.


Abnormal urinary color

description: An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color.


Abnormal mitochondrial shape

description: An anomaly in the surface contour of mitochondria.


Abnormal urinary odor

description: A deviation from the normal odor of the urine.


Abnormality of pancreas physiology

description: An anomaly of the function of the pancreas.


name: Abnormality of exocrine pancreas physiology

description: A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes.


name: Abnormality of endocrine pancreas physiology

description: A function abnormality of the endocrine pancreas.


Abnormal pancreas size

description: A deviation from the normal size of the pancreas.


Multiple joint dislocation

description: Dislocation of many joints.


Intracranial epidermoid cyst

description: A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development.


Intracranial dermoid cyst

description: A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands.


Edema of the dorsum of feet

description: An abnormal accumulation of fluid beneath the skin on the back of the feet.


name: Abnormality of circulating catecholamine level

description: An abnormal catecholamine concentration in the blood.


name: Abnormal circulating creatinine concentration

description: An abnormal concentration of creatinine in the blood.


Decreased serum creatinine

description: An abnormally reduced amount of creatinine in the blood.


Abnormal mitochondrial number

description: A deviation from the normal number of mitochondria per cell.


Abnormality of the mitochondrion

description: An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration.


Parietal cortical atrophy

description: Atrophy of the parietal cortex.


Occipital cortical atrophy

description: Atrophy of the occipital cortex.


Rhizomelic leg shortening

description: Disproportionate shortening of the proximal segment of the leg (i.e. the femur).


Increased fibular diameter

description: Increased width of the cross sectional diameter of the fibula.


Hypoplasia of the pons

description: Underdevelopment of the pons.


name: Abnormality of circulating glucocorticoid level

description: An abnormality of the concentration of a glucocorticoid in the blood.


name: Abnormal circulating corticosterone level

description: An abnormality of the concentration of corticosterone in the blood.


name: Abnormal circulating creatine concentration

description: A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells.


name: Abnormal circulating albumin concentration

description: Deviation from normal concentration of albumin in the blood.


Hyperalbuminemia

description: Elevation in the concentration of albumin in the blood.


Methylmalonic aciduria

description: Increased concentration of methylmalonic acid in the urine.


Uraciluria

description: Increased concentration of uracil in the urine.


Basal ganglia necrosis

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


name: Abnormality of bone marrow stromal cells


name: Abnormal erythroid lineage cell morphology

description: An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes.


Abnormal number of erythroid precursors

description: A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.


Erythroid hyperplasia

description: Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.


Erythroid hypoplasia

description: Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.


name: Abnormal granulocytopoietic cell morphology

description: An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell.


name: Abnormal number of granulocyte precursors


Granulocytic hypoplasia

description: Decreased number of granulocyte precursors in the bone marrow.


Abnormal megakaryocyte morphology

description: Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells.


Abnormal monocyte morphology

description: Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.


name: Abnormality of multiple cell lineages in the bone marrow


Abnormality of von Willebrand factor

description: Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.


name: Reduced quantity of Von Willebrand factor

description: Decreased quantity of von Willebrand factor.


Multiple lineage myelodysplasia

description: Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic.


Bilineage myelodysplasia

description: Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic.


Single lineage myelodysplasia

description: Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic).


Hemothorax

description: The presence of blood in the pleural space.


Foveoschisis

description: Splitting of the retinal layers in the macula.


Hypotriglyceridemia

description: An decrease in the level of triglycerides in the blood.


Anhedonia

description: Inability to experience pleasurable activities usually found enjoyable.


Decreased corneal sensation

description: Reduced ability of the cornea to respond to stimulation.


Hemophagocytosis

description: Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues.


Subcortical cerebral atrophy

description: Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter.


Internal carotid artery dissection

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


name: Intracranial internal carotid artery dissection

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


External carotid artery dissection

description: A separation (dissection) of the layers of the external carotid artery wall.


Common carotid artery dissection

description: A separation (dissection) of the layers of the common carotid artery wall.


Carotid artery dilatation

description: A dilatation (balooning or bulging out of the vessel wall) of a carotid artery.


Asterixis

description: A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints.


Oligodactyly

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


Skin-picking

description: Repetitive and compulsive picking of skin which results in tissue damage.


Head-banging

description: Habitual striking of one's own head against a surface such as a mattress or wall of a crib.


Self-biting

description: Habitual biting of one's own body.


Nail-biting

description: Habitual biting of one's own fingernails.


Stereotypical hand wringing

description: Habitual clasping and wringing of the hands in the middle of the body, similar to a hand-washing movement.


Stereotypical body rocking

description: Habitual repetitive movement of the entire body, front to back or side to side.


Orthostatic tachycardia

description: An increase in heart rate with standing of 30 beats per minute or more.


Abnormal natural killer cell morphology

description: An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells.


Abnormal natural killer cell physiology

description: A functional anomaly of the natural killer cell.


Reduced natural killer cell activity

description: Reduced ability of the natural killer cell to function in the adaptive immune response.


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.


Hyperplastic colonic polyposis

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


name: Entrapment neuropathy of the ulnar nerve at elbow

description: An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand.


name: Increased erythrocyte protoporphyrin concentration

description: Concentration of protoporphyrins in erythrocytes above the upper limit of normal.


Episodic hemiplegia

description: Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body.


Irregular respiration

description: Uneven rhythm of breathing.


Cheyne-Stokes respiration

description: An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes.


Juvenile colonic polyposis

description: The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands.


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.


Increased serum bile acid concentration

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


Recurrent vulvovaginal candidiasis

description: Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida.


Abnormal sperm motility

description: An anomaly of the mobility of ejaculated sperm.


Reduced sperm motility

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


Immotile sperm

description: A lack of mobility of ejaculated sperm.


Abnormal renal morphology

description: Any structural anomaly of the kidney.


Abnormal renal physiology

description: An abnormal functionality of the kidney.


Abnormal glomerular filtration rate

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


Decreased glomerular filtration rate

description: An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.


Increased glomerular filtration rate

description: An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.


name: Entrapment neuropathy of suprascapular nerve

description: An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region.


Increased urinary porphobilinogen

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


name: Non-caseating epithelioid cell granulomatosis

description: The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese).


Arachnoid hemangiomatosis

description: The presence of multiple hemangiomas in the arachnoid.


Splenic rupture

description: A breach of the capsule of the spleen.


Circulating immune complexes

description: Persistence of immune complexes in the blood circulation.


Oligodontia of primary teeth

description: Reduced number of primary teeth.


Urethral stricture

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


Tension-type headache

description: A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs.


CSF pleocytosis

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


Exudative retinal detachment

description: A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium.


Shortened QT interval

description: Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).


Intramuscular hematoma

description: Blood clot formed within muscle tissue following leakage of blood into the tissue.


Agranulocytosis

description: Marked decrease in the number of granulocytes.


Drug-induced agranulocytosis

description: A type of agranulocytosis related to ingestion of a specific medication.


Elevated sweat chloride

description: An increased concentration of chloride in the sweat.


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.


name: Increased intramyocellular lipid droplets

description: An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images.


Levator palpebrae superioris atrophy

description: Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid.


Superior rectus atrophy

description: Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe.


Abnormal reproductive system morphology

description: A structural or developmental anomaly of any of the tissues involved in the genital system.


Abnormal sex determination

description: Anomaly of primary or secondary sexual development or characteristics.


Sex reversal

description: Development of the reproductive system is inconsistent with the chromosomal sex.


Specific anosmia

description: Anosmia for one particular odor.


Prolonged PR interval

description: Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex).


Abnormal ST segment

description: An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment.


ST segment depression

description: An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line.


ST segment elevation

description: An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line.


Abnormal respiratory system morphology

description: A structural anomaly of the respiratory system.


name: Abnormal respiratory epithelium morphology

description: Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi.


name: Dynein arm defect of respiratory motile cilia

description: An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy.


Absent outer dynein arms

description: Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.


Absent inner dynein arms

description: Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.


name: Abnormal axonemal organization of respiratory motile cilia

description: Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms.


Absent inner and outer dynein arms

description: Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.


name: Abnormal central microtubular pair morphology of respiratory motile cilia

description: A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.


name: Abnormal respiratory motile cilium physiology

description: Any functional anomaly of the respiratory motile cilia.


Abnormal ciliary motility

description: Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions.


name: Absent central microtubular pair morphology of respiratory motile cilia

description: Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.


T-wave alternans

description: A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG.


name: Absent respiratory ciliary axoneme radial spokes

description: Absence of the radial spokes of the axoneme of the respiratory cilium.


Abnormal muscle glycogen content

description: Any anomaly in the amount of glycogen in muscle tissue.


Decreased muscle glycogen content

description: A decreased amount of glycogen in muscle tissue.


Episodic upper airway obstruction

description: Intermittent episodes of increased resistance to the passage of air in the upper airway.


J wave

description: The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point.


name: Increased carotid artery intimal medial thickness

description: An increase in the combined thickness of the intima and media of the carotid artery.


Hypoglycinemia

description: An abnormally reduced concentration of glycine in the blood.


name: Abnormal circulating serine concentration

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


Hyposerinemia

description: Reduced concentration of serine in the blood.


Hepatic amyloidosis

description: A form of amyloidosis that affects the liver.


Morbilliform rash

description: An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days.


Small distal femoral epiphysis

description: Reduced size of the Distal epiphysis of femur.


Small proximal tibial epiphyses

description: Reduced size of the proximal epiphysis of the tibia.


Abnormal hypothalamus physiology

description: An abnormal functionality of the hypothalamus.


Abnormal hypothalamus morphology

description: Any structural anomaly of the hypothalamus.


name: Hypothalamic luteinizing hormone-releasing hormone deficiency

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


Facial neoplasm

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


Fusion of gums

description: A congenital defect with an abnormal joining of the gums of the upper and lower jaw.


Abnormal genital pigmentation

description: An abnormal pigmentation pattern of the external genitalia.


Abnormal occipital bone morphology

description: Abnormality of the occipital bone of the skull.


Slender middle phalanx of finger

description: Reduced diameter of the middle phalanx of finger.


Slender distal phalanx of finger

description: Reduced diameter of the distal phalanx of finger.


Slender proximal phalanx of finger

description: Reduced diameter of the proximal phalanx of finger.


Long middle phalanx of finger

description: Increased length of the middle phalanx of finger.


Long distal phalanx of finger

description: Increased length of the distal phalanx of finger.


Ureteral agenesis

description: Failure of the ureter to undergo development.


Type II transferrin isoform profile

description: Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation.


Abnormal aortic arch morphology

description: An anomaly of the arch of aorta.


Hypoplastic aortic arch

description: Underdevelopment of the arch of aorta.


name: Coarctation of the descending aortic arch

description: Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta.


Abnormal rib ossification

description: An anomaly of the process of rib bone formation.


Spatulate ribs

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


name: Decreased circulating complement C9 concentration

description: Concentration of the complement component C9 in the blood circulation below the lower limit of normal.


Cutaneous amyloidosis

description: The presence of amyloid deposition in the superficial dermis.


Abnormal monocyte count

description: An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.


Monocytosis

description: An increased number of circulating monocytes.


Monocytopenia

description: An decreased number of circulating monocytes.


Bouchard's node

description: Bony swelling of the proximal interphalangeal joint (PIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically.


Occipital neuralgia

description: A distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side.


Absent pigmentation of the abdomen

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


Absent pigmentation of the limbs

description: Lack of skin pigmentation (coloring) of the arms and legs.


Perifolliculitis

description: Inflammation surrounding hair follicles.


Sleep myoclonus

description: Myoclonus that occurs during the initial phases of sleep.


Abnormal celiac artery morphology

description: An anomaly of the celiac artery.


Cementoma

description: An odontogenic tumor of the cementum of tooth.


name: Abnormal autonomic nervous system morphology

description: A structural abnormality of the autonomic nervous system.


Abnormal sudomotor regulation

description: An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration.


Abnormality of folate metabolism

description: An abnormality of the metabolism of folic acid, which is also known as vitamin B9.


Abnormal homeostasis

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


Abnormal energy expenditure

description: Any anomaly in the utilization of energy (calories).


Increased resting energy expenditure

description: An increase in the number of calories used per unit time.


Decreased resting energy expenditure

description: A reduction in the number of calories used per unit time.


Microprolactinoma

description: A pituitary prolactin cell adenoma of less than 10 mm diameter.


Macroprolactinoma

description: A pituitary prolactin cell adenoma of more than 10 mm diameter.


name: Decreased circulating ferritin concentration

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


Morphea

description: Isolated patches of hardened skin (scleroderma).


Abnormal glycosylation

description: An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule.


Abnormal protein glycosylation

description: An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins.


Abnormal protein N-linked glycosylation

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


name: Decreased galactosylation of N-linked protein glycosylation

description: A reduction in the amount of galactose residues of N-glycans.


name: Abnormal sialylation of N-linked protein glycosylation

description: An anomaly of the addition of sialic acids to N-linked glycans.


name: Decreased sialylation of N-linked protein glycosylation

description: Decreased addition of sialic acids to N-linked glycans.


name: Increased sialylation of N-linked protein glycosylation

description: Increased addition of sialic acids to N-linked glycans.


name: Abnormal fucosylation of protein N-linked glycosylation

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


name: Decreased fucosylation of N-linked protein glycosylation

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


name: Increased fucosylation of N-linked protein glycosylation

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


name: Abnormal mannosylation of N-linked protein glycosylation

description: An anomaly of the addition of mannose to N-linked glycans.


name: Decreased mannosylation of N-linked protein glycosylation

description: Reduced addition of mannose to N-linked glycans.


name: Increased mannosylation of N-linked protein glycosylation

description: Increased addition of mannose to N-linked glycans.


Abnormal protein O-linked glycosylation

description: An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue.


name: Abnormal fucosylation of O-linked protein glycosylation

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


name: Decreased fucosylation of O-linked protein glycosylation

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


name: Increased fucosylation of O-linked protein glycosylation

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


name: Abnormal sialylation of O-linked protein glycosylation

description: An anomaly of the addition of sialic acids to O-linked glycans.


name: Decreased sialylation of O-linked protein glycosylation

description: An reduced addition of sialic acids to O-linked glycans.


Decreased urinary potassium

description: A decreased concentration of potassium(1+) in the urine.


Hypophosphaturia

description: An abnormally decreased phosphate concentration in the urine.


Basilar invagination

description: Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama).


Extra fontanelles

description: Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull.


Flat face

description: Absence of concavity or convexity of the face when viewed in profile.


Prominence of the zygomatic bone

description: Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'.


Hyperplasia of midface

description: Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face


Abnormal eye morphology

description: A structural anomaly of the globe of the eye, or bulbus oculi.


Abnormal eye physiology

description: A functional anomaly of the eye.


Chemosis

description: Edema (swelling) of the bulbar conjunctiva.


Microphakia

description: Abnormal smallness of the lens.


Hemianopia

description: Partial or complete loss of vision in one half of the visual field of one or both eyes.


Fatigue

description: A subjective feeling of tiredness characterized by a lack of energy and motivation.


name: Abnormal circulating enzyme concentration or activity

description: Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.


name: Reduced tissue carnitine O-palmitoyltransferase 2 activity

description: Reduced carnitine O-palmitoyltransferase (CPT II; EC 2.3.1.21) activity or level, leading to a reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine. (CPT II activity can be measured in tissues including fibroblasts, lymphoblasts, and skeletal muscle.


name: Delayed self-feeding during toddler years

description: A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age).


Left-to-right shunt

description: Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right.


Bidirectional shunt

description: Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa.


Absent hallux

description: Aplasia of the hallux, that is, a development defect such that the big toe does not develop.


Acute bronchitis

description: Inflammation of the large airways of the lung with rapid onset and short course usually associated with cough, mucus production, shortness of breath, wheezing, and chest tightness.


Appendicular hypotonia

description: Muscular hypotonia of one or more limbs.


Hyporeflexia of upper limbs

description: Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.


Jaw hyporeflexia

description: Reduced intensity of muscle tendon reflexes in jaw.


Iodine contrast allergy

description: Allergy to iodine contrast media used in radiological studies.


Peripheral edema

description: An abnormal accumulation of interstitial fluid in the soft tissues of the limbs.


name: Abnormal circulating aldolase concentration

description: An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate.


name: Abnormal urine alpha-ketoglutarate concentration

description: A deviation from normal of the concentration of 2-oxoglutaric acid in the urine.


name: Increased urine alpha-ketoglutarate concentration

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


name: Decreased urine alpha-ketoglutarate concentration

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


Abnormal urine citrate concentration

description: A deviation from normal of the concentration of citrate(3-) in the urine.


Hypocitraturia

description: A lower than normal concentration of citrate(3-) in the urine.


Hypercitraturia

description: A greater than normal concentration of citrate(3-) in the urine.


Scissor gait

description: A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use.


Medullary nephrocalcinosis

description: The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney).


Cortical nephrocalcinosis

description: The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla).


Premature pubarche

description: The onset of growth of pubic hair at an earlier age than normal.


Premature adrenarche

description: Onset of adrenarche at an earlier age than usual.


Duodenal atrophy

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


Abnormal blood gas level

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


Hypercapnia

description: Abnormally elevated blood carbon dioxide (CO2) level.


Hypocapnia

description: Abnormally reduced blood carbon dioxide (CO2) level.


Hypoxemia

description: An abnormally low level of blood oxygen.


Hyperoxemia

description: An abnormally high level of blood oxygen.


Meconium stained amniotic fluid

description: Amniotic fluid containing the earliest stools of a mammalian infant.


Congenital absence of foreskin

description: Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis.


Villous hypertrophy of choroid plexus

description: Overgrowth of the choroid plexus.


Colonic inertia

description: The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days.


Stercoral ulcer

description: An ulcer of the colon due to pressure and irritation from retained fecal masses.


Increased femoral anteversion

description: An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward.


Prominent calcaneus

description: Protruding heel bone, or calcaneus.


name: Aplasia/Hypoplasia of the cerebral white matter

description: Absence or underdevelopment of the cerebral white matter.


Cerebral white matter hypoplasia

description: Underdevelopment of the cerebral white matter.


Episodic fatigue

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


Chronic fatigue

description: Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer.


Abnormal social behavior

description: An abnormality of actions or reactions of a person taking place during interactions with others.


name: Delayed early-childhood social milestone development

description: A failure to meet one or more age-related milestones of social behavior.


Ventral shortening of foreskin

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


name: Nonocclusive coronary artery atherosclerosis

description: Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries.


Abnormal gallbladder morphology

description: A structural anomaly of the gallbladder.


Abnormal gallbladder physiology

description: A functional anomaly of the gallbladder.


Abnormal biliary tract physiology

description: A functional abnormality of the biliary tree.


Abnormal biliary tract morphology

description: A structural abnormality of the biliary tree.


Sphincter of Oddi dyskinesia

description: Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum.


Gallbladder dyskinesia

description: Reduced motility of the gallbladder with reduced emptying fraction.


Abnormal brain morphology

description: A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.


Brain atrophy

description: Partial or complete wasting (loss) of brain tissue that was once present.


Abnormal myelination

description: Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.


Delayed myelination

description: Delayed myelination.


Sacroiliac joint synovitis

description: Inflammation of the synovial membrane of the sacroiliac joint.


Chronic constipation

description: Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.


Acute constipation

description: Constipation of sudden onset and lasting for less than three months.


Bilateral wrist flexion contracture

description: A chronic loss of wrist joint motion on the right and left sides.


Unilateral wrist flexion contracture

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


Medial arterial calcification

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


name: Medial calcification of medium-sized arteries

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


Medial calcification of small arteries

description: Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries.


Dysmorphic inferior cerebellar vermis

description: A structural anomaly of the inferior portion of the vermis of cerebellum.


Elevated transferrin saturation

description: An above normal level of saturation of serum transferrin with iron.


Decreased transferrin saturation

description: A below normal level of saturation of serum transferrin with iron.


Elevated hepatic iron concentration

description: An increased level of iron in liver tissues.


Chronic respiratory acidosis

description: Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq/L).


Acute respiratory acidosis

description: Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35).


Chronic acidosis

description: Longstanding abnormal acid accumulation or depletion of base.


Infantile spasms

description: Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).


Setting-sun eye phenomenon

description: An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid.


Thick vermilion border

description: Increased width of the skin of vermilion border region of upper lip.


Eclabion

description: A turning outward of the lip or lips, that is, eversion of the lips.


Tongue atrophy

description: Wasting of the tongue.


name: Decreased specific pneumococcal antibody level

description: The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci.


Vocal tremor

description: A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability.


Temporomandibular joint ankylosis

description: Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening.


Temporomandibular joint crepitus

description: Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound.


Abnormal cerebral vein morphology

description: An anomaly of cerebral veins.


Cerebral venous angioma

description: A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system.


Frontal venous angioma

description: A venous angioma of the frontal lobe of the brain.


Abnormal alpha granules

description: Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury.


Abnormal dense granules

description: Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin.


name: Abnormal surface-connected open canalicular system

description: An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction.


Cerebellopontine angle arachnoid cyst

description: An arachnoid cyst located at the margin of the cerebellum and pons.


Intraventricular arachnoid cyst

description: An arachnoid cyst located within the ventricular system.


Suprasellar arachnoid cyst

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


Abnormal dense tubular system

description: An anomaly of the intracellular membrane complexes known as the dense tubular system.


Cerebral artery stenosis

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


Middle cerebral artery stenosis

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


Anterior cerebral artery stenosis

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


Posterior cerebral artery stenosis

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


Reduced maximal inspiratory pressure

description: A decrease in the maximum amount of negative pressure a person can generate during an inhalation.


Reduced maximal expiratory pressure

description: A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration.


Nuchal cord

description: A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times.


Descending aortic dissection

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


Verrucous papule

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


name: Abnormal brainstem white matter morphology

description: An anomaly of the white matter of brainstem.


Abnormality of the internal capsule

description: An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus.


Abnormal pituitary gland morphology

description: An anomaly of the pituitary gland.


Abnormal size of pituitary gland

description: A deviation from the normal size of the pituitary gland.


Enlarged pituitary gland

description: An abnormally increased size of the pituitary gland.


Small pituitary gland

description: An abnormally decreased size of the pituitary gland.


Weakness of orbicularis oculi muscle

description: Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid.


Metamorphopsia

description: A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank.


Reduced thyroxin-binding globulin

description: An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream.


name: Extra-axial cerebrospinal fluid accumulation

description: An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space.


Temporal optic disc pallor

description: A pale yellow discoloration of the temporal (lateral) portion of the optic disc.


Diffuse optic disc pallor

description: A pale yellow discoloration of the entire optic disc.


Upper limb pain

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


Lower limb pain

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


Hip flexor weakness

description: Reduced ability to flex the femur, that is, to pull the knee upward.


name: Tetralogy of Fallot with pulmonary atresia

description: An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries.


Reduced circulating catalase activity

description: Activity or concentration of catalase in the blood circulation below the lower limit of normal.


Abnormal circle of Willis morphology

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


name: Hypoplastic posterior communicating artery

description: A developmental anomnaly characterized by underdevelopment of the posterior communicating artery.


Dilation of Virchow-Robin spaces

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


Optic nerve aplasia

description: Congenital absence of the optic nerve.


Spider hemangioma

description: A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released.


Oral aversion

description: Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing).


Abnormal platelet shape

description: A deviation from the normal discoid platelet shape.


Abnormal alpha granule distribution

description: An anomalous location and arrangement of platelet alpha granules.


Absence of alpha granules

description: A lack of platelet alpha granules. This typically results in the gray appearance of platelets in giemsa stained blood smears.


Abnormal alpha granule content

description: A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor.


Abnormal number of alpha granules

description: A deviation from the normal count of alpha granules per thrombocyte.


Abnormal dense granule content

description: A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated.


Abnormal number of dense granules

description: A deviation from the normal count of dense granules per thrombocyte.


Pain

description: An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.


Chronic pain

description: Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months.


Allodynia

description: Pain due to a stimulus that does not normally provoke pain.


Dysesthesia

description: Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds.


Abnormal synaptic transmission

description: An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process.


name: Maternal anticardiolipin antibody positive

description: The presence of circulating autoantibodies to anticardiolipin in the mother.


Food intolerance

description: A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction.


Gluten intolerance

description: A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease.


Axillary epidermoid cyst

description: An epidermoid cyst in the armpit.


Cephalohematoma

description: Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum.


Onychauxis

description: Thickened nails without deformity.


Hemosiderinuria

description: The presence of hemosiderin in the urine.


name: Elevated circulating aldolase concentration

description: Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation above the upper limit of normal.


name: Reduced circulating aldolase concentration

description: Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation below the lower limit of normal.


Abnormal involuntary eye movements

description: Anomalous movements of the eyes that occur without the subject wanting them to happen.


Fatty replacement of skeletal muscle

description: Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers


Conjunctival lipoma

description: A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva.


Colonic varices

description: The presence of varices (enlarged and convoluted blood vessels) in the colon.


Absent neutrophil specific granules

description: Lack of specific granules in neutrophils.


name: Increased neutrophil nuclear projections

description: Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs.


Hypoplastic thumbnail

description: A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail.


Absent thumbnail

description: Absence of thumb nail.


Absent nail of hallux

description: Absent nail of big toe.


Hyperbeta-alaninemia

description: Increased concentration of beta-alanine in the blood.


name: EEG with centrotemporal focal spike waves

description: EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.


Abnormal T3/T4 ratio

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


Increased T3/T4 ratio

description: A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal.


Decreased T3/T4 ratio

description: A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal.


Unicuspid aortic valve

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


Premature epimetaphyseal fusion in hand

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


Premature epimetaphyseal fusion in foot

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


name: Premature epimetaphyseal fusion in tibia

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


name: Premature epimetaphyseal fusion in fibula

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


name: Premature epimetaphyseal fusion in radius

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


Premature epimetaphyseal fusion in ulna

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


Lower eyelid edema

description: Edema in the region of the Lower eyelid.


Delayed menarche

description: First period after the age of 15 years.


Ureter fissus

description: A partial duplication of the ureter where the duplicated ureters fuse to a single ureter before their insertion into the bladder.


Ureter duplex

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


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.


Mesangial hypercellularity

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


Abnormal nephron morphology

description: A structural anomaly of the nephron.


Glomerular C3 deposition

description: The presence of complement 3 deposits in the glomerulus.


Thin glomerular basement membrane

description: Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs.


Calcium phosphate nephrolithiasis

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


Simple renal cyst

description: An isolated cyst of the kidney.


Unilateral renal hypoplasia

description: One sided hypoplasia of the kidney.


Renal atrophy

description: Atrophy of the kidney.


Bilateral renal atrophy

description: A two-sided form of atrophy of the kidney.


Macroscopic hematuria

description: Hematuria that is visible upon inspection of the urine.


Multidrug-resistant nephrotic syndrome

description: A form of nephrotic syndrome that does not respond to any immunosuppresive treatment.


Abnormal urine output

description: An abnormal amount of urine production.


name: Abnormal urinary electrolyte concentration

description: An abnormality in the concentration of electrolytes in the urine.


Albuminuria

description: Increased concentration of albumin in the urine.


Nephrotic range proteinuria

description: Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children.


Moderate albuminuria

description: The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol).


Mild proteinuria

description: Mildly increased levels of protein in the urine (150-500 mg per day in adults).


Moderate proteinuria

description: Moderately increased levels of protein in the urine (500-1000 mg per day in adults).


Heavy proteinuria

description: Severely increased levels of protein in the urine (1000-3000 mg per day in adults).


Abnormal urine potassium concentration

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


Abnormal urine phosphate concentration

description: An abnormal phosphate concentration in the urine.


Abnormal urine chloride concentration

description: An abnormal concentration of chloride in the urine.


Hypochloriduria

description: An decreased concentration of chloride in the urine.


Renal chloride wasting

description: High urine chloride in the presence of hypochloridemia.


Abnormal urine sodium concentration

description: An abnormal concentration of sodium in the urine.


Hyponatriuria

description: An abnormally decreased sodium concentration in the urine.


Hypernatriuria

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


Renal sodium wasting

description: An abnormally increased sodium concentration in the urine in the presence of hyponatremia.


Abnormal urine magnesium concentration

description: An abnormal concentration of magnesium the urine.


Hypermagnesiuria

description: An increased concentration of magnesium the urine.


Hypomagnesiuria

description: An decreased concentration of magnesium the urine.


Abnormality of urinary uric acid level

description: Abnormal amount of urate in the urine.


Abnormal urinary sulfate concentration

description: Abnormal concentration of sulfate in the urine.


Increased urinary sulfate

description: Elevated concentration of SO4(2-), i.e., sulfate, in the urine.


Abnormal urine cytology

description: An anomalous finding in the examination of the urine for cells.


Cylindruria

description: The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine.


Leukocyte cylindruria

description: Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine.


Erythrocyte cylindruria

description: Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine.


Multiple bladder diverticula

description: Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder.


Cloacal abnormality

description: A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate.


Persistent cloaca

description: Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel.


Stage 1 chronic kidney disease

description: A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2).


Stage 2 chronic kidney disease

description: A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2).


Stage 3 chronic kidney disease

description: A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2).


Stage 4 chronic kidney disease

description: A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2).


Pseudoexfoliation

description: Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor.


name: Abnormal suspensory ligament of lens morphology

description: An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place.


Phakodonesis

description: Tremulousness (trembling) of the lens of the eye.


Abnormal trabecular meshwork morphology

description: An anomaly of the trabecular meshwork, which is the porelike structure surrounding the entire circumference of the anterior chamber at the base of the cornea and near the ciliary body. The trabecular mesh work is responsible for draining the aqueous humor into the canal of Schlemm.


name: Pigment deposition in the trabecular meshwork

description: Accumulation of abnormal amounts of pigment within the trabecular meshwork.


Abnormal intraocular pressure

description: An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye.


Asymmetry of intraocular pressure

description: A difference in the amount of intraocular pressure in the right and left eye.


Iris pigment dispersion

description: Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor.


Iris hypoperfusion

description: Reduction in the amount of blood flow to the iris.


Renal calcium wasting

description: High urine calcium in the presence of hypocalcemia.


Abnormal nervous system physiology

description: A functional anomaly of the nervous system.


Abnormal nervous system morphology

description: A structural anomaly of the nervous system.


Abnormality of intracranial pressure

description: A deviation from the norm of the intracranial pressure.


Decreased intracranial pressure

description: A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.


Cerebellar agenesis

description: Cerebellar agenesis is defined by the near complete absence of cerebellar tissue with only remnants of the anterior vermis, flocculus, and/or middle cerebellar peduncles.


Foveal hypopigmentation

description: Decreased amount of pigmentation in the fovea centralis.


Increased caudate lactate level

description: An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging.


Enlarged peripheral nerve

description: Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve.


Retractile testis

description: A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex.


Abnormal inflammatory response

description: Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.


Decreased inflammatory response

description: An abnormal reduction in the inflammatory response to injury or infection.


Increased inflammatory response

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


Perisylvian polymicrogyria

description: Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly.


Abasia

description: A severe form of gait ataxia such that an affected person cannot walk at all.


Exercise-induced asthma

description: Asthma attacks following exercise.


Abnormal CSF dopamine concentration

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


Elevated CSF dopamine concentration

description: Increased concentration of dopamine in the cerebrospinal fluid (CSF).


Reduced CSF dopamine concentration

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


name: Abnormal brain positron emission tomography

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


name: Abnormal brain FDG positron emission tomography

description: An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity.


Prefrontal hypometabolism in FDG PET

description: Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the prefrontal cortex as measured by positron emission tomography (PET) brain scan.


Thalamic hypometabolism in FDG PET

description: Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the thalamus as measured by positron emission tomography (PET) brain scan.


Hypothalamic hypometabolism in FDG PET

description: Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the hypothalamus as measured by positron emission tomography (PET) brain scan.


Parietal hypometabolism in FDG PET

description: Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan.


name: Mildly reduced left ventricular ejection fraction

description: A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 50 percent, and a mild reduction is defined as 40-49 percent.


name: Reduced left ventricular ejection fraction

description: A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.


name: Moderately reduced left ventricular ejection fraction

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


name: Severely reduced left ventricular ejection fraction

description: A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent.


name: Regional left ventricular wall motion abnormality

description: An abnormal motion of a segment of the left ventricle during the cardiac cycle.


Vasovagal syncope

description: A vasovagal episode or vasovagal syncope is the most common form of reflex syncope. Reflex syncope is a general term used to describe types of syncope resulting from a failure in autoregulation of blood pressure, and ultimately, in cerebral perfusion pressure resulting in transient loss of consciousness. The mechanisms responsible for this are complex and involve both depression of cardiac output as well as a decrease in vascular tone.


Carotid sinus syncope

description: An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion.


Orthostatic syncope

description: Syncope following a quick change in position from lying down to standing.


Abulia

description: Abulia is a severe form of apathy, characterized by difficulty in initiating and sustaining spontaneous movements, as well as reductions in emotional responsiveness, spontaneous speech, and social interaction.


Aplasia of the upper vagina

description: A failure to develop of the upper vagina.


Aplasia of the lower vagina

description: A failure to develop of the lower part of the vagina.


Iron accumulation in brain

description: An abnormal build up of iron (Fe) in brain tissue.


Copper accumulation in brain

description: An anomalous build up of copper (Cu) in the brain.


Iron accumulation in substantia nigra

description: An anomalous build up of iron (Fe) in the substantia nigra.


Widened interpedicular distance

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


Abnormality of the pineal gland

description: An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin.


Abnormal pineal morphology

description: A structural abnormality of the pineal gland.


Pineal gland calcification

description: Accumulation of calcium salts in the pineal gland.


Pineal cyst

description: A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland.


Abnormal pineal volume

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


Decreased pineal volume

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


Increased pineal volume

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


Agenesis of pineal gland

description: Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present.


Abnormality of pineal physiology

description: A functional abnormality of the pineal gland.


Abnormal pineal melatonin secretion

description: An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland.


T2 hypointense thalamus

description: A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus.


Focal T2 hypointense thalamic lesion

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


Focal T2 hyperintense thalamic lesion

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


Abnormal thalamic size

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


Enlarged thalamic volume

description: An increase in the quantity of space occupied by the thalamus.


Decreased thalamic volume

description: A reduction in the quantity of space occupied by the thalamus.


Abnormal thalamic MRI signal intensity

description: A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus.


Small basal ganglia

description: Decreased size of the basal ganglia.


Cerebellar gliosis

description: Focal proliferation of glial cells in the cerebellum.


Anomaly of lower limb diaphyses

description: A structural abnormality of a diaphysis of the leg.


Abnormal large intestine physiology

description: A functional anomaly of the large intestine.


Bowel urgency

description: A sudden, irresistible need to have a bowel movement.


Tenesmus

description: A repeated, painful urge to defecate without excreting stool.


Abnormal subarachnoid space morphology

description: Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid.


Widened subarachnoid space

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


Abnormal metabolic brain imaging by MRS

description: An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS).


Elevated brain choline level by MRS

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


Elevated brain lactate level by MRS

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


name: Reduced brain N-acetyl aspartate level by MRS

description: A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).


name: Abnormal brain choline/creatine ratio by MRS

description: A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS).


Ingrown nail

description: Excessive growth of a nail laterally into the nail fold.


name: Delayed ossification of vertebral epiphysis

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


Mild hearing impairment

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


Moderate hearing impairment

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


Severe hearing impairment

description: A severe form of hearing impairment.


Profound hearing impairment

description: A profound (essentially complete) form of hearing impairment.


Moderate conductive hearing impairment

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


Severe conductive hearing impairment

description: A severe form of conductive hearing impairment.


name: Abnormal gastrointestinal tract morphology

description: Abnormal structure of the gastrointestinal tract.


name: Functional abnormality of the gastrointestinal tract

description: Abnormal functionality of the gastrointestinal tract.


Neoplasm of the nose

description: Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity.


Venous malformation

description: A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region.


Heart block

description: Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway.


Upper eyelid edema

description: Edema in the region of the upper eyelid.


Cutaneous syndactyly

description: A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits.


Episodic hypokalemia

description: An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes.


name: Fusiform descending thoracic aortic aneurysm

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


name: Saccular descending thoracic aortic aneurysm

description: An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall


Aglossia

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


Ectopic anterior pituitary gland

description: Abnormal anatomic location of the anterior pituitary gland.


Macule

description: A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.


Ketotic hypoglycemia

description: Low blood glucose is accompanied by elevated levels of ketone bodies in the body.


Cough

description: A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.


Profound global developmental delay

description: A profound delay in the achievement of motor or mental milestones in the domains of development of a child.


Small intestinal polyp

description: A discrete abnormal tissue mass that protrudes into the lumen of the small intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base.


Agenesis of canine

description: Agenesis of canine tooth.


Agenesis of the small intestine

description: Failure to develop of the small intestine.


Unilateral cryptorchidism

description: Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.


Thin fingernail

description: Fingernail that appears thin when viewed on end.


Abdominal obesity

description: Excessive fat around the stomach and abdomen.


Femoral aplasia

description: Failure of the femur to develop.


Short palpebral fissure

description: Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.


Thin toenail

description: Toenail that appears thin when viewed on end.


Abnormal brainstem MRI signal intensity

description: A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem.


Focal T2 hyperintense brainstem lesion

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


Focal T2 hypointense brainstem lesion

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


T2 hypointense brainstem

description: A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem.


name: Abnormal basal ganglia MRI signal intensity

description: A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia.


name: Focal T2 hypointense basal ganglia lesion

description: A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia.


T2 hypointense basal ganglia

description: A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia.


CNS hypermyelination

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


Enlarged brainstem

description: Abnormal increase in size of the brainstem.


CSF polymorphonuclear pleocytosis

description: An increased polymorphonuclear cell count in the cerebrospinal fluid.


Abnormal neuron morphology

description: A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions.


Neurodevelopmental delay

description: Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.


Neurodevelopmental abnormality

description: A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities.


Reduced social reciprocity

description: A reduced ability to participate in the back-and-forth flow of social interaction appropriate to culture and developmental level, which is normally characterized by an influence of the behavior of one person on the behavior of another person. This results in difficulty interacting with others through emotional, physical, or verbal communication.


Absent mastoid

description: A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent.


Cerebral white matter atrophy

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


Paroxysmal dyspnea

description: A sudden attack of dyspnea that occurs while the affected person is at rest.


Orthopnea

description: A sensation of breathlessness in the recumbent position, relieved by sitting or standing.


Widened cerebellar subarachnoid space

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


Widened cerebral subarachnoid space

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


Abnormal placental size

description: A deviation from normal size of the placenta.


Abnormal arm span

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


Reduced arm span

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


Increased arm span

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


Abnormal upper to lower segment ratio

description: A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis.


Reduced upper to lower segment ratio

description: Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. Consider the term Disproportionate tall stature (HP:0001519) if tall stature is also present.


Increased upper to lower segment ratio

description: Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis.


Stellate iris

description: A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel.


Abnormal ciliary body morphology

description: A structural anomaly of the ciliary body.


Retinal astrocytic hamartoma

description: A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte.


Transient hearing impairment

description: Hearing loss that occurs acutely and resolves completely.


Mid-frequency hearing loss

description: A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz).


Perilobar nephrogenic rest

description: A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe.


Intralobar nephrogenic rest

description: A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls.


Flexion contracture of finger

description: Chronic loss of joint motion in a finger due to structural changes in non-bony tissue.


Recurrent cystitis

description: Repeated infections of the urinary bladder.


Recurrent pyelonephritis

description: Repeated episodes of pyelonephritis.


Reticulate pigmentation of oral mucosa

description: A net-like pattern of increased pigmentation of the oral cavity.


Hypoplasia of the calcaneus

description: Underdevelopment of the heel bone.


Abnormal intramembranous ossification

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


Abnormal humeral ossification

description: An anomaly of the process of formation of bone in the humerus.


name: Absent ossification of thoracic vertebral bodies

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


Kinked brainstem

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


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.


Abnormal optic disc morphology

description: A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination.


Increased cup-to-disc ratio

description: An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disk. The optic disc has an orange-pink rim with a pale center (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells.


Unilateral facial palsy

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


Accessory cranial suture

description: A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant.


Narrow jaw

description: Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective).


Broad jaw

description: Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective).


Iris transillumination defect

description: Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris.


Proboscis

description: A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline.


High insertion of columella

description: Insertion of the posterior columella superior to the nasal base.


Abnormal nasal base norphology

description: An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face.


Narrow nasal base

description: Decreased distance between the attachments of the alae nasi to the face.


Wide nasal base

description: Increased distance between the attachments of the alae nasi to the face.


Wide nasal ridge

description: Increased width of the nasal ridge.


Fullness of paranasal tissue

description: Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues.


Unilateral breast hypoplasia

description: Underdevelopment of the breast on one side only.


Bilateral breast hypoplasia

description: Underdevelopment of the breast on both sides.


Hypoplastic female external genitalia

description: Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris).


name: Right ventricular noncompaction cardiomyopathy

description: A predominantly right ventricular variant of isolated noncompaction cardiomyopathy.


Noncompaction cardiomyopathy

description: A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber.


description: Noncompaction cardiomyopathy that affects both ventricles.


Bilateral vocal cord paralysis

description: A loss of the ability to move the vocal fold on both sides.


Unilateral vocal cord paresis

description: Decreased strength of the vocal fold on one side.


Bilateral vocal cord paresis

description: Decreased strength of the vocal fold on both sides.


Retinal vascular tortuosity

description: The presence of an increased number of twists and turns of the retinal blood vessels.


Trichilemmoma

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


Single trichilemmoma

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


Multiple trichilemmomata

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


Small intestinal stenosis

description: The narrowing or partial blockage of a portion of the small intestine.


Small intestinal bleeding

description: Bleeding from the small intestine.


Small intestinal dysmotility

description: Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.


Colonic stenosis

description: A narrowing of a segment of colon whereby bowel continuity is maintained.


Hepatic bridging fibrosis

description: Hepatic fibrosis that reaches from a portal area to another portal area.


Scrotal hypospadias

description: Hypospadias with location of the urethral meatus in the scrotum.


Midshaft hypospadias

description: Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis.


Scrotal hyperpigmentation

description: Increased pigmentation (skin color) of the scrotum.


Abnormal scrotal rugation

description: Anomaly of the folded ridges (wrinkles) of skin of the scrotum.


Increased scrotal rugation

description: Increased number or density of the folded ridges (wrinkles) of skin of the scrotum.


Decreased scrotal rugation

description: Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum.


Testicular fibrosis

description: Formation of excess connective tissue in the testicle.


Ovotestis

description: A gonad that contains both ovarian follicles and testicular tubular elements.