Maternal hyperthyroidism

description: The mother of a fetus or index patient has a history of hyperthyroidism during the corresponding pregnancy.


Gadolinium exposure

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

description: History of exposure to gadolinium, a contrast medium often used for magnetic resonance imaging.


Purulent parotid gland drainage

description: Excretion of pus (purulent discharge) from the opening of the parotid duct.


Obstipation

description: Obstipation is the inability to pass either stool or flatus (gas).


Posttussive emesis

description: Vomiting following a coughing spell.


Vasculitis by anatomical site

description: Vasculitis categorized according to the anatomical site where the finding is localized.


Vasculitis by histology

description: Vasculitis categorized according to type of histological abnormality.


name: Accumulation of lipid droplets in small-bowel enterocytes


Pericardial friction rub

description: A pericardial friction rub is a grating, to-and-fro sound that occurs in phase with the heart sounds.


name: Abnormal muscle succinate dehydrogenase staining

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


name: Increased muscle succinate dehydrogenase staining


name: Decreased muscle succinate dehydrogenase staining


Small intestinal hamartoma

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


Pyriform sperm head

description: Pyriform spermatozoa consist of a normally shaped acrosomal structure which can be normal in size or enlarged, while the post-acrosomal region shows severe elongation and an acute narrowing to the posterior end, ending in about the same thickness as the connecting mid-piece.


Excess residual spermatozoal cytoplasm

description: Excess residual cytoplasm is associated with abnormal spermatozoa produced from a defective spermiation process. This abnormal excess cytoplasm should not be confused with more physiological cytoplasmic residues that can be observed in direct microscopy of the ejaculate but not in dried, fixed and stained morphology smears.


Cardiomyocyte hyaline bodies

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


Hepatic hemophagocytosis

description: Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages observed in the liver.


CSF hemophagocytosis

description: Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages observed in the cerebrospinal fluid (CSF).


Splenic hemophagocytosis

description: Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages observed in the spleen.


Urinary bladder granulomatosis

description: The presence of multiple granulomas in the urinary bladder as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.


Epidermal necrosis

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


Exacerbated by flexion

description: Applied to a sign or symptom that is aggravated by (or made more painful by) bending of a limb or joint.


Hemolacria

description: The presence of blood in tears.


Corneal foreign body sensation

description: A perception that an object is in contact with the eye.


Buttock pain

description: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the buttock (round fleshy area at the lower rear area of a human trunk).


Vaginal foreign body sensation

description: A perception that an object located in the vagina.


Paroxysmal nocturnal dyspnea

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


Eyelid pain

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


Abnormal sperm physiology

description: Abnormality of a sperm function including protection of paternal DNA, traversing the female reproductive tract, oocyte localisation, penetration of the zona pellucida, oocyte activation and centriole deposition.


Small acrosomal area

description: Reduction in size of the acrosome below the lower limit of normal. The acrosome is a unique membranous organelle located over the anterior part of the sperm nucleus. According to the World Health Organization criteria, the acrosome must be clearly visible, comprising approximately 40-70 percent of the sperm head.


Bent sperm flagella

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


Spermiation failure

description: Spermiation failure is indicated by apparently normal spermiogenesis, but the presence of retained Sd2 spermatids in stages III-V of human spermatogenesis, whereas maturation arrest is indicated by a lack of late Sd1 and Sd2 spermatids in the epithelium.


Conjunctival membrane

description: Formation of a sheet of tissue by coagulum of exudate over the conjunctiva of the eye that if removed leaves behind a denuded bleeding surface.


Extreme oligozoospermia

description: A type of oligozoospermia characterized by a total number of more than zero but less than 2 million sperm in the ejaculate or a concentration of more than zero but less than one million sperm per milliliter.


Mild oligozoospermia

description: A type of oligozoospermia characterized by a total number of more than 30 but less than 39 million sperm in the ejaculate or a concentration of more than 10 but less than 15 million sperm per milliliter.


Moderate oligozoospermia

description: A type of oligozoospermia characterized by a total number of more than 10 but less than 29 million sperm in the ejaculate or a concentration of more than 5 but less than 10 million sperm per milliliter.


Severe oligozoospermia

description: A type of oligozoospermia characterized by a total number of more than 2 but less than 10 million sperm in the ejaculate or a concentration of more than 1 but less than 5 million sperm per milliliter.


Iris nodule

description: The presence of a nodule (small rounded lump of tissue) in the iris.


Koeppe nodules

description: A type of iris nodule consisting of inflammatory cell precipitates which lie at the pupillary margin.


Bussaca nodules

description: A type of iris nodule consisting of inflammatory cell precipitates which lie on the iris surface.


Decreased CSF copper concentration

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


Diffuse pulmonary lymphoid hyperplasia

description: Diffuse lymphoid hyperplasia (DLH) describes the pathological entity that lies between follicular bronchiolitis and lymphocytic interstitial pneumonia (LIP). It is pathologically characterized by a diffuse peribronchiolar proliferation of hyperplastic lymphoid follicles (BALT), extended along the lymphatics to involve the interlobular septa and pleura. Unlike LIP, DHL does not show uniform involvement of the alveolar septa.


name: Reduced muscle laminin alpha-2 chain staining

description: A decreased amount of laminin alpha-2 chain in muscle tissue. This feature can be shown by immunohistochemistry or Western blotting of muscle tissue.


Adrenal cortical sclerosis

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


name: Reduced hepatic fructose-1,6-phosphate aldolase activity

description: Concentration or activity of fructose 1,6-bisphosphate aldolase in liver tissue below the lower limit of normal.


Pancreatic hamartoma

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


name: Peripheral nerve polyglucosan inclusion bodies

description: Accumulation of a poorly branched and poorly spherical amylopectin-like glycogen (polyglucosan) in peripheral nerve fibers.


Cardiac polyglucosan accumulation

description: Accumulation of a poorly branched and poorly spherical amylopectin-like glycogen (polyglucosan) in myocardial tissue.


Absent dermal elastic fibers

description: Elastic fibers not demonstrable in skin biopsy.


name: Cleavage at junction of stratum corneum and stratum granulosum

description: Splitting of the skin (cell-cell adhesion of keratinocytes) localized to the interface between the stratum corneum and stratum granulosum layers of the epidermis.


Absence of epidermal lamellar bodies

description: Lack of lamellar bodies (LBs) inthe epidermis. LBs are specialized organelles that contain pro-barrier lipids imparting a fully lamellar internal structure, but also other cargoes such as enzymes (lipid metabolizing and proteolytic), enzyme inhibitors, and antimicrobial peptides.


Gastrointestinal granulomatosis

description: The presence of multiple granulomas in the gastrointestinal tract (Pylorus, esophagus, jejunum, ileum, cecum, rectum, perirectal area, esophagus) as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.


Enlarged sperm head vacuole

description: Increased size of sperm vacuoles, which are surface concavities typically located at the the tip or middle area of sperm heads. According to the WHO Laboratory Manual for the Examination and Processing of Human Semen, sperm head vacuoles are considered abnormal when exceeding 20% of the cross-sectional area of the head. Vacuoles are found in almost all samples with normal sperm morphology; this term applies if the proportion of sperm with abnormally large vacuoles is above the upper limit of normal.


Ureteral hamartoma

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


Fetal methimazole exposure

description: A history of exposure during pregnancy of the mother of a fetus or child to methimazole.


Fetal procarbazine exposure

description: A history of exposure during pregnancy of the mother of a fetus or child to procarbazine.


Fetal fluorouracil exposure

description: A history of exposure during pregnancy of the mother of a fetus or child to fluorouracil.


Fetal cytarabine exposure

description: A history of exposure during pregnancy of the mother of a fetus or child to cytarabine.


Fetal tetracycline exposure

description: A history of exposure during pregnancy of the mother of a fetus or child to tetracycline.


Fetal quinine exposure

description: A history of exposure during pregnancy of the mother of a fetus or child to quinine.


Fetal cyclophosphamide exposure

description: A history of exposure during pregnancy of the mother of a fetus or child to cyclophosphamide.


Fetal metronidazole exposure

description: A history of exposure during pregnancy of the mother of a fetus or child to metronidazole.


Fetal phenobarbital exposure

description: A history of exposure during pregnancy of the mother of a fetus or child to phenobarbital.


Fetal phenytoin exposure

description: A history of exposure during pregnancy of the mother of a fetus or child to phenytoin.


Maternal obesity during pregnancy

description: A history of obesity, which can be defined as a body mass index of 30 or greater, in the mother of a fetus or index patient.


Maternal amniocentesis

description: A history of amniocentesis having been performed in the mother of a fetus or index patient.


name: Abnormal leukocyte enzyme concentration or activity

description: Concentration or activity of an enzyme as measured in leukocytes is above or below the limits of normal.


name: Reduced leukocyte beta-glucuronidase activity

description: Concentration or activity of an beta-glucuronidase as measured in leukocytes is below the limits of normal.


name: Reduced leukocyte alpha-L-fucosidase activity

description: Concentration or activity of an alpha-L-fucosidase as measured in leukocytes is below the limits of normal.


name: Reduced leukocyte arylsulfatase B activity

description: Concentration or activity of an arylsulfatase B as measured in leukocytes is below the limits of normal.


name: Reduced leukocyte steroid sulfatase activity

description: Concentration or activity of an arylsulfatase C as measured in leukocytes is below the limits of normal.


name: Reduced leukocyte arylsulfatase A activity

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


name: Decreased alpha-galactosidase A activity

description: Activity of the enzyme alpha-galactosidase outsidebelow the lower limit of normal.


Positive fecal parasite test

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


Positive stool infectious agent test

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


Positive stool giardia antigen

description: Test for giardia antigen in stool such as immune assay or DFA positive.


name: Entamoeba histolytica antibody positive in stool

description: Demonstration of antibody directed against Entamoeba histolytica in stool.


name: Reduced erythrocyte free porphyrin concentration

description: Concentration of porphyrin in erythrocytes below the lower limit of normal.


name: Reduced circulating urocanic acid concentration

description: The concentration of urocanic acid in the blood circulation is below the lower limit of normal.


Decreased urinary epinephrine level

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


Decreased CSF epinephrine concentration

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


name: Decreased circulating epinephrine concentration

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


name: Decreased circulating norepinephrine concentration

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


Decreased urinary norepinephrine level

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


Decreased urinary metaepinephrine level

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


name: Decreased CSF metanephrine concentration

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


name: Decreased circulating metanephrine concentration

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


Ovarian mass

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


Adrenal mass

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


Uterine mass

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


Decreased portal vein velocity

description: A reduction in the velocity of portal venous flow, generally measured by Doppler ultrasound. Portal venous flow is normally towards the liver with peak systolic velocities in the range of 20-40 cm/s.


Uterine cervix mass

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


Abnormal urinary uromodulin level

description: The concentration of uromodulin (also known as Tamm Horsfall protein) in the urine, normalized for usine concentration, is outside the limits of normal.


Decreased urinary uromodulin level

description: The concentration of uromodulin (also known as Tamm Horsfall protein) in the urine, normalized for urine concentration, is below the lower limit of normal.


name: Increased urine phenylacetylglutamine level

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


name: Decreased urine guanidinoacetic acid level

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


name: Positive urine infectious agent nucleic acid test

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


Positive CMV urine nucleic acid test

description: Detection of Cytomegalovirus (CMV) nucleic acid in the urine by a method such as polymerase chain reaction.


name: Positive Neisseria gonorrhoeae urine nucleic acid test

description: Detection of Neisseria gonorrhoeae nucleic acid in the urine by a method such as polymerase chain reaction.


name: Positive enterovirus urine nucleic acid test

description: Detection of enterovirus nucleic acid in the urine by a method such as polymerase chain reaction.


Elevated brain glycine level by MRS

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


Elevated brain polyol compounds by MRS

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


name: Elevated brain gamma-aminobutyric acid by MRS

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


name: History of recent anticoagulant ingestion

description: Medical history of ingestion of anticoagulants prior to presentation.


name: Decreased circulating antidiuretic hormone concentration

description: Concentration of antidiuretic hormone, also known as vasopressin, is below the lower limit of normal in the blood circulation.


name: Elevated circulating growth hormone-releasing hormone concentration

description: Concentration of growth hormone-releasing hormone above the upper limit of normal in the blood circulation.


name: Abnormal amniotic fluid protein concentration

description: Any deviation of the concentration of a protein in the amniotic fluid from normal limits


name: Decreased amniotic fluid alpha-fetoprotein concentration

description: Concentration of alpha-fetoprotein in the amniotic fluid below lower limit of normal.


name: Increased circulating vitamin E concentration

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


name: Abnormal circulating calcitonin concentration

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


name: Decreased circulating calcitonin concentration

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


name: Decreased circulating thyrotropin releasing hormone concentration

description: Concentration of thyrotropin releasing hormone below the lower limit of normal in the blood circulation.


name: Elevated circulating uroporphyrin concentration

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


name: Increased urine pentacarboxylporphyrin level

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


name: Increased urine hexacarboxylporphyrin level

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


name: Increased circulating dehydroepiandrosterone concentration

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


name: Increased erythrocyte coproporphyrin concentration

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


name: Increased erythrocyte uroproporphyrin concentration

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


name: Decreased circulating apolipoprotein E concentration

description: Concentration of apolipoprotein E below the lower limit of normal.


name: Elevated circulating apolipoprotein E concentration

description: Concentration of apolipoprotein E above the upper limit of normal.


Acrosomal hypoplasia

description: Reduction in the size of the acrosome of the head of spermatozoa.


Oocyte maturation arrest

description: Oocyte maturation arrest (OMA) can manifest as failed in vitro fetilization/intracytoplasmic sperm injection (IVF/ICSI) attempts using affected oocytes.


Abnormal anus morphology

description: A structural anomaly of the anus.


Abnormal anus physiology

description: A functional anomaly of the anus.


Weak anal sphincter tone

description: Reduced muscle tone of the sphincter of the anus.


name: Reduced muscle 2,4-dienoyl-CoA reductase activity

description: Diminished activity of the enzyme 2,4-dienoyl-CoA reductase in muscle tissue.


name: Reduced liver 2,4-dienoyl-CoA reductase activity

description: Diminished activity of the enzyme 2,4-dienoyl-CoA reductase in liver tissue.


Nasal mucosa vasculitis

description: Inflammation of blood vessels in the mucosa of the nasal cavity.


Peripheral axon spheroid formation

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


name: Reduced liver carboxylesterase 1 activity

description: Activity of the enzyme carboxylesterase 1 in liver tissue below the lower limit of normal.


Abnormal dermis morphology

description: A structural anomaly of the dermis, the layer of skin that lies beneath the epidermis and above the subcutaneous layer.


Perivascular dermis hyaline deposition

description: Deposition of a largely amorphous hyaline (transparent and homogeneous) substance around blood vessels in the dermis layer of the skin.


name: Perivascular small intestinal hyaline deposition

description: Deposition of a largely amorphous hyaline (transparent and homogeneous) substance around blood vessels in the wall of the small intestine.


Large keratohyaline granules

description: Abnormally large keratohyalin granules (KHG). KHG are typically present in the stratum granulosum of the epidermal layer of the skin (and epithelium of the mucosae). KHG are protein structures found in the keratinocytes of the stratum granulosum.


Decreased muscle lipoic acid content

description: Reduced amount of lipoic acid in muscle tissue.


name: Reduced hepatic cystathionine gamma-lyase activity

description: Activity of cystathionine gamma-lyase in the liver below the lower limit of normal.


Digestive system neoplasm

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


Lumbar spondylosis

description: Arthrosis, i.e., of degenerative joint disease, affecting the lumbar vertebral column.


name: Decreased circulating acid maltase activity

description: Activity of the enzyme acid maltase (also known as alpha-1,4-glucosidase) below the lower limit of normal.


name: Abnormal circulating 7-dehydrocholesterol concentration

description: Concentration of 7-dehydrocholesterol in the blood circulation outside the limits of normal.


name: Decreased circulating 7-dehydrocholesterol concentration

description: Concentration of 7-dehydrocholesterol in the blood circulation below the lower limit of normal.


name: Elevated circulating lathosterol concentration

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


name: Elevated circulating desmosterol concentration

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


name: Decreased circulating sialic acid concentration

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


Purulent synovial fluid

description: The synovial fluid (also known as synovia, i.e., the fluid found in the cavities of synovial joints) contains increased quantities of white blood cells.


name: Muscle fiber calsequestrin 1-containing inclusion bodies

description: The presence of inclusion bodies within the cytoplasm of muscle cells that demonstrate immunoreactivity for calsequestrin 1.


Palatine myxoma

description: A myxoma (A benign tumor composed of myxomatous tissue composed of loosely-arranged spindle, polygonal, and stellate cells) localized to the palate. Clinically, such tumors may present as a sessile nodule on the hard palate.


Vaginal myxoma

description: A myxoma (tumor of primitive connective tissue) localized in the vagina.


Decreased dermal collagen

description: Abnormally reduced amount of collagen fibers in the dermis.


name: Irregularly shaped keratohyaline granules

description: Abnormal shape of keratohyaline granules in dermal keratinocytes.


Tubular shadows

description: Tubular shadows are characterized by a complete absence of cells in the testicular tubules, meaning that germ cells as well as somatic Sertoli cells are absent. The cells have been replaced by hyalinization.


Multiple eyelid margin cysts

description: Presence of many apocrine hidrocystoma (cysts) on the margins of the eyelids.


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

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


Uterine myxoma

description: A myxoma (tumor of primitive connective tissue) localized to the uterus.


Uterine cervix myxoma

description: A myxoma (tumor of primitive connective tissue) localized to the the cervix of the uterus.


Osteochondromyxoma

description: A rare benign chondroid and osteoid matrix-producing neoplasm of bone characterized by extensive myxoid changes. OMX originate from bony cortices and have been observed in the nasal region, as well as the tibia and radius.


Gangliocytoma

description: A low-grade central nervous system tumor composed of dysplastic ganglion cells, usually presenting in children or young adults and located in the cerebral hemispheres.


Thymic carcinoid tumor

description: A primary thymic neuroendocrine tumor.


Bone marrow eosinophilia

description: Count of eosinophils in the bone marrow above the upper limit of normal.


Exacerbated by lithium exposure

description: Applied to a sign or symptom that is worsened by treatment with lithium.


name: Reduced hepatic glycogen debrancher enzyme activity

description: Activity of glycogen debrancher enzyme (also known as amylo-1,6-glucosydase, 4-alpha-glucantransferase) in liver tissue below the lower limit of normal.


name: Asymmetrical insertion of the midpiece into the head

description: Insertion of the neck and midpiece into the head of a spermatozoon on an axis that diverges from the midline axis of the spermatozoon head. This term applies if the proportion of spermatozoa with this defect is above the upper limit of normal.


Bent sperm neck

description: Sharply angled insertion of the neck and midpiece into the head of a spermatozoon. This term applies if the proportion of spermatozoa with this feature is above the upper limit of normal.


name: Elevated urine 3,6-epoxydicarboxylic acid level

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


Gallbladder biliary sludging

description: Presence of biliary sludge (a mixture of particulate solids that have precipitated from bile) in the gallbladder. Such sediment consists of cholesterol crystals, calcium bilirubinate pigment, and other calcium salts. Sludge is usually detected on transabdominal ultrasonography.


Exacerbated by amiodarone exposure

description: Applied to a sign or symptom that is worsened by treatment with amiodarone.


Ureteral mass

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


Wide cavum septum pellucidum

description: Width of the cavum septum pellucidum above the upper limit of normal, which is defined as a separation of greater than one cm of the leaves of the cavum septum pellucidum.


Hypoplastic trochlear nerve

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


Thymic cyst

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


Uterine cyst

description: A closed sack of tissue (cyst) located in the uterus.


Urinary bladder mass

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


Endosteal scalloping

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


Urinary bladder hamartoma

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


Peritoneal mass

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


Fallopian tube mass

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


name: Aplasia of the pyramids of the medulla oblongata

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


Bathrocephaly

description: A deformity of the posterior skull with bulging of the midportion of the occipital bone that is often associated with a benign variant of the mendosal suture.


Occipital horn

description: Downward pointing exostoses of the occipital bone situated in the tendinous insertions of the sternocleidomastoid and trapezius muscles.


Absent pituitary stalk

description: A developmental defect characterized by failure to develop of the pituitary stalk. The pituitary stalk, also known as the infundibulum or infundibular stalk, is the connection between the hypothalamus and the pituitary gland.


Abnormal pituitary stalk morphology

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


Interrupted pituitary stalk

description: A developmental defect characterized by a discontinuity of the pituitary stalk. The pituitary stalk, also known as the infundibulum or infundibular stalk, is the connection between the hypothalamus and the pituitary gland.


Facial synkinesis

description: Unintentional movement in one area of the face produced during intentional movement of another area of the face.


Synkinesis

description: Unintentional movement in one area of the body produced during intentional movement of another area of the body.


Exposure to birds

description: History of exposure to birds.


Perianal anethesia

description: Loss of sensation to the area of buttocks, perianal space and thighs.


name: Failure of phenylephrine to induce blanching of eye redness

description: Instillation of 2.5% phenylephrine drops into the eye does not induce blanching of eye redness. Failure to blanch suggests redness caused by scleral vessel engorgement (e.g., scleritis) or extravascular cause (e.g., hemorrhage), not episcleritis or conjunctivitis.


Fetal alcohol exposure

description: A history of exposure during pregnancy of the mother of a fetus or child to ethanol (alcohol).


Reduced cellular cobalamin uptake

description: Diminished ability of cells to transport cobalamine from the extracellular space to the cytoplasm.


Focal necrotic brainstem lesion

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


Focal necrotic optic nerve lesion

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


Focal necrotic thalamus lesion

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


Interstitial dermal edema

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


Shoulder external rotation contracture

description: A type of shoulder contracture characterized by decreased internal rotation of shoulder, that is, by a chronic reduction in active and passive ability to internally rotate the humerus at the shoulder joint (if the arm is flexed at the elbow, Internal rotation of the shoulder rotates the forearm towards the center of the body).


Thumb adduction contracture

description: A type of thumb contracture characterized by a chronic reduction in active and passive ability of the metacarpal-phalangeal and/or interphalangeal joints of the thumb to bring from medial side to neutral position, where the neutral position for the thumb is when the distal and proximal segments of the thumb joint are in linear alignment.


name: Reduced tissue fructose-1,6-bisphosphatase activity

description: Activity of fructose-1,6-bisphosphatase (EC 3.1.3.11) below the lower limit of normal. The activity can be measured in multiple tissues including liver and leukocytes.


name: Reduced hepatic carbamoylphosphate synthetase 1 activity

description: Activity of carbamoylphosphate synthetase 1 in the liver below the lower limit of normal.


name: Reduced intraepidermal small nerve fiber density

description: Reduced number of small nerve fibers in the skin.


Femoral artery duplication

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


name: Intracellular accumulation of collagen VII

description: Collagen VII is the major molecular constituent of anchoring fibrils in the skin. Collagen VII is synthesized as three identical pro-alpha1(VII) polypeptide chains, which are hydroxylated and glycosylated in a coordinated manner and then fold into triple-helical procollagen VII in the endoplasmic reticulum (ER). Mature collagen VII undergoes a multistep fibril polymerization process to form the anchoring fibrils. Mutant pro-alpha1(VII) polypeptide chains or procollagen VII molecules do not pass the ER quality control and are retained in the ER or designated for ubiquitin-proteasome degradation resulting in reduced amounts of collagen VII in the skin.


name: Reduced reticular lamina anchoring fibril density

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


name: Reduced lamina lucida anchoring filament density

description: Diminished amount of the anchoring filaments that normally bridge the lamina lucida and insert into the lamina densa in the cutaneous basement membrane zone.


name: Reduced epidermal keratin 5 protein expression

description: Amount of keratin 5 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.


name: Reduced epidermal keratin 14 protein expression

description: Amount of keratin 14 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.


name: Reduced epidermal keratin protein expression

description: Amount of one or more keratins in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.


name: Reduced hepatic alanine-glyoxylate aminotransferase activity

description: Activity of alanine-glyoxylate aminotransferase in the liver below the lower limit of normal.


Hepatic sinusoidal dilatation

description: Presence of an increased amount of blood in the hepatic capillaries.


Thin spermatozoon midpiece

description: The cross-sectional size (diameter) of the midpiece of the spermatozoon is below the lower limit of normal. This term applies if the proportion of spermatozoa with this defect is above the upper limit of normal.


Thick spermatozoon midpiece insertion

description: Increased width of the midpiece of the spermatozoon. The midpiece is the structure that is located between the head and the flagella (tail) of the spermatozoon. This term applies if the width of the midpiece increases progressively from the flagella to the head and if the proportion of individual spermatozoa with this anomaly is above the upper limit of normal.


Shoulder adduction contracture

description: A type of shoulder contracture characterized by a chronic reduction in the active and passive ability to abduct the shoulder. This results in the shoulders being closer to midline. The affected individual is not able to position the shoulders away from the body.


Occupational exposure history

description: Exposure to a substance that results from the performance of an employee's duties.


Occupational silver exposure

description: A history of exposure to silver that has occurred in relation to performance of job duties.


Abnormal femoral artery morphology

description: Any structural abnormality of the femoral artey, a large blood vessel that provides oxygenated blood to lower extremity structures and in part to the lower anterior abdominal wall.


name: Abnormal extrahepatic bile duct morphology


Extrahepatic bile duct fibrosis

description: Accumulation of fibrous connective tissue (collagen) in the extrahepatic bile ducts.


name: Elevated circulating short-chain acylcarnitine concentration

description: Concentration of short-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Short chain acylcarnitines have between two and five carbon atoms in the acyl-chain (C2-C5),


name: Elevated circulating C4 acylcarnitine concentration

description: Concentration of C4 acylcarnitines in the blood circulation above the upper limit of normal. C4 acylcarnitines have a four-carbon acyl chain.


name: Elevated circulating medium-chain acylcarnitine concentration

description: Concentration of medium-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Medium-chain acylcarnitines have between six and twelve carbon atoms in the acyl-chain (C6-C12),


name: Elevated circulating long-chain acylcarnitine concentration

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


name: Elevated circulating C5 acylcarnitine concentration

description: Concentration of C5 acylcarnitines in the blood circulation above the upper limit of normal. C5 acylcarnitines have a five-carbon acyl chain.


name: Elevated circulating C18 acylcarnitine concentration

description: Concentration of C18 acylcarnitines in the blood circulation above the upper limit of normal. C18 acylcarnitines have a eighteen-carbon acyl chain.


name: Elevated circulating C16 acylcarnitine concentration

description: Concentration of C16 acylcarnitines in the blood circulation above the upper limit of normal. C16 acylcarnitines have a sixteen-carbon acyl chain.


name: Elevated circulating very long-chain acylcarnitine concentration

description: Concentration of very long-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Very long-chain acylcarnitines have twentyone or more carbon atoms in the acyl-chain (C21 and higher),


name: Elevated circulating acetylcarnitine concentration

description: Concentration of acetylcarnitine (C2 acylcarnitine) in the blood circulation above the upper limit of normal. Acetylcarnitine has a two-carbon acyl chain.


name: Elevated circulating methylmalonylcarnitine concentration

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


name: Elevated circulating 3-hydroxyhexadecanoylcarnitine concentration

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


name: Elevated circulating C6 acylcarnitine concentration

description: Concentration of C6 acylcarnitines in the blood circulation above the upper limit of normal. C6 acylcarnitines have a six-carbon acyl chain.


name: Elevated circulating methylglutarylcarnitine concentration

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


name: Elevated circulating 3-hydroxyisovalerylcarnitine concentration

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


name: Elevated circulating 3-hydroxyhexanoylcarnitine concentration

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


name: Elevated circulating carnitine concentration

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


name: Elevated circulating tiglylcarnitine concentration

description: Concentration of tiglylcarnitine (C5:1) in the blood circulation above the upper limit of normal.


name: Reduced circulating acetylcarnitine concentration

description: Concentration of acetylcarnitine (C2 acylcarnitine) in the blood circulation below the lower limit of normal. Acetylcarnitine has a two-carbon acyl chain.


name: Reduced circulating octadecenoylcarnitine concentration

description: Concentration of octadecenoylcarnitine (C18:1 acylcarnitine) in the blood circulation below the lower limit of normal.


Absent pigmentation of chest

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


Hyperparakeratosis

description: Abnormal keratinization of the epidermal stratum coreum (horny layer) with increased keratin formation, preservation of the nuclei in the superficial cells, and absence of the stratum granulosum.


Chromosome breakage

description: Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents.


name: Increased activity of mitochondrial respiratory chain


name: Aplasia/Hypoplasia of the fifth metatarsal bone


name: Abnormality of the second metatarsal bone


name: Abnormality of the fourth metatarsal bone


Onychogryposis of fingernail

description: Thickened fingernails.


Toenail onycholysis

description: Painless and spontaneous separation of a toenail from the nail bed.


Decreased adipose tissue

description: A decrease in the amount of adipose tissue.


Abnormal morphology of ulna

description: Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger.


name: Abnormal circulating creatine kinase concentration

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


Happy demeanor

description: A conspicuously happy disposition, characterized by frequent smiling and laughing, which may be contextually inappropriate or unrelated to the situation.


Abnormal circulating renin

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


Abnormal blood folate concentration

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


Abnormal lymphocyte count

description: Any abnormality in the total number of lymphocytes in the blood.


Abnormal natural killer cell count

description: Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes.


Abnormal tympanic membrane morphology

description: Any structural abnormality of the tympanic membrane


Neoplasm of the outer ear

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


name: Cutaneous atresia of the external auditory canal


name: Osseous atresia of the external auditory canal


name: Cutaneous stenosis of the external auditory canal


name: Osseous stenosis of the external auditory canal


name: Abnormal lateral semicircular canal morphology


name: Abnormal posterior semicircular canal morphology


name: Abnormal anterior semicircular canal morphology


name: Absence of the reflex of the tensor tympani muscle


Abnormal Eustachian tube morphology

description: A structural anomaly of the Eustachian tube (ET). The ET is a biomechanical valve between the nasopharynx and the middle ear. Physiologically, it controls the passive adaptation of the middle ear air pressure to the ambient air pressure primarily via direct muscular actions of the soft palate. In the closed state it protects the middle ear. Inadequate function of the ET causes middle ear ventilation disorders.


name: Unilateral conductive hearing impairment


name: Abnormality of the reflex of the tensor tympani muscle


Abnormality of the acoustic reflex

description: An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation.


name: Impairment of the reflex of the tensor tympani muscle


name: Abnormal circulating vitamin B12 concentration

description: A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins.


Abnormal sweat homeostasis

description: An abnormality of the composition of sweat or the levels of its components.


Abnormal circulating iron concentration

description: The concentration of iron in the blood circulation is outside the limits of normal.


name: Abnormal motor nerve conduction velocity


name: Abnormal sensory nerve conduction velocity


name: Abnormal circulating ferritin concentration

description: A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma.


Abnormal transferrin saturation

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


Comedonal acne

description: A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules.


Mucinous histiocytosis

description: Multiple subcutaneous non-fragile and skin-coloured papules characterized by interstitial infiltrate of spindle and epithelioid histiocytes, and mucin. There are well circumscribed aggregates of epithelioid histiocytes and mucin in the upper and middle dermis,with the histiocytes arranged between collagen bundles and separated from the epidermis by a Grenz zone.


Dystopic os odontoideum

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


Cortical myoclonus

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


Woolly scalp hair

description: The presence of wooly hair on the scalp. The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.


Elevated urinary 3-hydroxybutyric acid

description: An increased amount of 3-hydroxybutyric acid in the urine.


Elevated urinary carboxylic acid

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


Orthokeratosis

description: Formation of an anuclear keratin layer


Lipomas of eyelids

description: Fatty tumors on the eyelids.


name: Decreased serum testosterone concentration


name: Abnormality of extrinsic muscle of tongue


name: Abnormal circulating phospholipid concentration

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


name: Abnormal level of platelet-activating factor


name: Increased level of platelet-activating factor


name: Decreased level of platelet-activating factor


Inappropriate sinus tachycardia

description: Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands.


Oral bleeding

description: Bleeding originating from the mouth.


Maculopapular exanthema

description: A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear.


Neonatal sepsis

description: Systemic inflammatory response to infection in newborn babies.


Scaling skin

description: Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.


APUdoma

description: An endocrine tumor arising from an APUD cell.


Increased head circumference

description: An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart.


Decreased head circumference

description: An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean.


Mild microcephaly

description: Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD).


Motor impersistence

description: The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged 'ah' sound) without repeated prompts.


Simultanapraxia

description: A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue.


Abnormal consumption behavior

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


Abnormal CSF neopterin concentration

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


Elevated CSF neopterin level

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


Decreased CSF neopterin level

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


name: Abnormal circulating neopterin concentration

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


Abnormal CSF biopterin concentration

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


Elevated CSF biopterin level

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


Decreased CSF biopterin level

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


name: Abnormal circulating biopterin concentration

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


Abnormal skin morphology of the palm

description: An abnormality of the skin of the palm, that is, the skin of the front of the hand.


Risus sardonicus

description: Fixed sarcastic grimace and anxious expression. Caused by spasms of the masseter and other facial muscles.


Hypopnea

description: Hypopnea is referring to breathing that is abnormally shallow.


name: Abnormal circulating insulin concentration

description: An abnormal concentration of insulin in the body.


Hypoinsulinemia

description: A decreased concentration of insulin in the blood.


Elevated hemoglobin A1c

description: An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements.


Reduced natural killer cell count

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


Absent natural killer cells

description: Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis.


Maternal thrombophilia

description: An increased tendency towards thrombosis in the mother during a pregnancy.


Pulmonary hemorrhage

description: Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease.


Abnormality of fibrinolysis

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


name: Decrease in high molecular weight von Willebrand factor Multimers

description: A decrease in high molecular weight von Willebrand factor multimers.


Decreased level of heparin co-factor II

description: An abnormality of coagulation related to a decreased concentration of heparin co-factor II


name: Decreased level of histidine-rich glycoprotein

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


Decreased level of plasminogen

description: A decreased level of Plasminogen


Decreased level of thrombomodulin

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


name: Decreased level of tissue plasminogen activator

description: The tPA protein catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis


Delayed onset bleeding

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


Leukocyte inclusion bodies

description: The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes.


Hyperfibrinolysis

description: Increased degradation of fibrin, associated with clot instability and bleeding


Impaired binding of factor VIII to VWF

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


Impaired neutrophil chemotaxis

description: An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response


description: Increased plasma vitamin K epoxide after vitamin K supplementation is present in VKCFD (vitamin K-dependent clotting factor deficiency) type 2, but not in VKCFD type 1.


name: Increased ratio of VWF propeptide to VWF antigen

description: An increased VWF propeptide to VWF antigen indicates that deficiency of VWF is not due to impaired synthesis but due to rapid clearance. The VWF propeptide is measured by ELISA.


Increased RIPA

description: Increased platelet agglutination in response to low-dose ristocetin


Muscle hemorrhage

description: Bleeding occuring within a muscle


Prolonged euglobulin clot lysis time

description: Abnormally increased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored.


Prolonged Russell's viper venom time

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


Reduced alpha-2-antiplasmin activity

description: Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis.


Reduced antithrombin antigen

description: Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation.


Reduced euglobulin clot lysis time

description: Abnormally decreased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored.


name: Reduced plasminogen activator inhibitor 1 activity

description: Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator.


name: Reduced plasminogen activator inhibitor 1 antigen

description: Reduced level of plasminogen activator inhibitor 1 antigen.


Reduced prothrombin antigen

description: Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin.


Hand dimple

description: A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the hand.


description: Absence or underdevelopment of the nasopharyngeal adenoids.


name: Abnormal size of nasopharyngeal adenoids

description: A deviation in the size of nasopharyngeal adenoids.


Hypoplastic nasopharyngeal adenoids

description: Underdevelopment of the nasopharyngeal adenoids.


Aplastic nasopharyngeal adenoids

description: Absence of the nasopharyngeal adenoids as a developmental defect.


name: Decreased size of nasopharyngeal adenoids

description: An abnormal decrease in the size of nasopharyngeal adenoids.


Jaw pain

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


Upper limb muscle hypertrophy

description: Abnormal increase in muscle size and mass of one or both arms not due to training.


Impaired glucose tolerance

description: An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose.


name: Hyperintensity of MRI T2 signal of the spinal cord

description: A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord.


Adenocarcinoma of the intestines

description: A malignant epithelial tumor with a glandular organization that originates in the intestines.


Abnormal axial muscle morphology

description: A structural anomaly of the muscles of the trunk and head.


Nasogastric tube feeding

description: The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food.


Abnormal location of the eyebrow

description: Anomalous anatomical placement of the eyebrow.


Preauricular cyst

description: Preauricular sinus is an occasional finding and most frequently appears as a small pit close to the anterior margin of the ascending portion of the helix. The opening has also been reported along the postero superior margin of the helix, the tragus or the lobule. Preauricular sinus may lead to the formation of a subcutaneous cyst that is intimately related to the tragal cartilage and the anterior crus of the helix.


Hyperplasia of the endometrium

description: A proliferation of the endometrial cells resulting in glandular enlargement and budding. The proliferation may or may not be associated with atypia of the endometrial cells. When the hyperplastic changes are excessive, there is formation of complex epithelial structures (complex endometrial hyperplasia).


name: Decreased circulating free fatty acid level


name: Abnormal circulating free fatty acid concentration

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


Increased urinary glycerol

description: An increased concentration of glycerol in the urine.


name: Decreased circulating iron concentration

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


Increased male libido

description: Increased desire for sexual activity on the part of a male.


Decreased male libido

description: Reduced desire for sexual activity on the part of a male.


Male sexual dysfunction

description: A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity


Male anorgasmia

description: Inability of a male to reach orgasm.


Sterile arthritis

description: An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures.


Symmetric polyarthritis

description: Polyarthritis refers to a joint disease that involves at least five joints. One or more signs of inflammation, including pain, movement restriction, swelling, warmth, and redness, are seen in the joints involved. Polyarthritis is defined as symmetric if at least half of the joints involved are affected in a symmetric (i.e., both right and the left) fashion.


Oligoarthritis

description: A type of arthritis that affects up to four joints in the first six months of disease.


Blind vagina

description: The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia.


Tongue edema

description: An abnormal accumulation of fluid and swelling in the tongue.


Blue urine

description: An abnormal blue color of the urine.


Red urine

description: An abnormal red color of the urine.


Dark urine

description: An abnormal dark color of the urine.


Red-brown urine

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


Dark yellow urine

description: An abnormal dark-yellow color of the urine.


Purple urine

description: An abnormal purple color of the urine.


Eyelid erythema

description: Redness of the skin of the eyelids, caused by hyperemia of the capillaries in the lower layers of the skin.


Heliotrope rash

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


Bull's eye rash

description: A cutaneous eruption that consists of multiple (at least two) concentric erythematous rings.


Hypoplasia of the olfactory bulb

description: Underdevelopment of the olfactory bulb.


name: Abnormal morphology of the olfactory bulb

description: An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell.


name: Focal hyperintensity of cerebral white matter on MRI

description: An abnormal area of increased brightness (hyperintensity) that is limited to one particular area.


name: Multifocal hyperintensity of cerebral white matter on MRI

description: An abnormal area of increased brightness (hyperintensity) that occurs in several distinct areas.


name: Confluent hyperintensity of cerebral white matter on MRI

description: Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together.


name: Focal hypointensity of cerebral white matter on MRI


name: Multifocal hypointensity of cerebral white matter on MRI


name: Confluent hypointensity of cerebral white matter on MRI


Purulent rhinitis

description: Chronic rhinitis accompanied by pus formation.


Breast microcalcification

description: The term breast microcalcification is used to define calcium deposits in the breast with a diameter of less than 1 mm.


Architectural distortion of breast

description: Architectural distortion is defined as an architectural disruption of the normal breast that does not have obvious mass opacities, which may be early signs of breast carcinoma.


name: Asymmetric thickening of the nipple-areolar complex

description: Thickening of the skin around the nipple with a distribution that is not equal on all sides.


Mastitis

description: Mastitis is defined as an inflammation of the breast and may or may not be accompanied by infection.


Pain in penis

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


Left ventricular thrombus

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


Gelatinous ascites

description: A type of ascites characterized by copious amounts of mucinous ascites and mucinous peritoneal implants, leading to progressive obliteration of the peritoneal cavity and intestinal obstruction.


Diffuse breast nodularity

description: Breast tissue with a lumpy or ropelike texture.


name: Abnormal urinary nitrogen compound level

description: The amount of a nitrogen compound in the urine, normalized for urine concentration, is outside of normal limits.


Decreased urinary biopterin level

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


name: Abnormal urine guanidinoacetic acid level

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


name: Elevated urine guanidinoacetic acid level

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


Decreased urinary neopterin level

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


Abnormal urinary inosine level

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


Elevated urinary inosine level

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


Abnormal urinary guanosine level

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


Elevated urinary guanosine level

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


Abnormal urinary hypoxanthine level

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


Decreased urinary hypoxanthine level

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


Absent neutrophil lactoferrin

description: The absence of lactoferrin in neutrophil granules, which could be caused by either an isolated failure of synthesis of this protein (or the production of an antigenically unrecognizable form of lactoferrin) or a complete deficiency of specific granule production.


Neutrophil nuclear clefts

description: An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation.


Low neutrophil alkaline phosphatase

description: An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme.


Increased neutrophil mitochondria

description: An increased number of mitochondria detected in neutrophils.


Increased neutrophil ribosomes

description: An increased number of ribosomes detected in neutrophils.


name: Decreased expression of GPI-anchored proteins on the cell surface

description: A decrease in the protein expression of GPI-anchor proteins, such as CD55 and CD59, at the cell surface, which suggests a defect in GPI-anchor biosynthesis.


Starch intolerance

description: An inability to digest starch.


Renal tubular cyst

description: Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells.


Ageusia

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


Agenesis of putamen

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


Fractured humerus

description: A partial or complete breakage of the humerus.


Hot cross bun sign

description: A cruciform-shaped hyperintensity within the pons found on T2-weighted magnetic resonance imaging (MRI).


Transient decreased circulating IgG4

description: A temporary reduction beneath the normal level of total immunoglobulin G4 (IgG4) in the blood circulation.


Chronic decreased circulating IgG4

description: A lasting decrease of immunoglobulin G4 (IgG4) in the blood.


Chronic (near) absent circulating IgG4

description: A lasting absence of immunoglobulin G4 (IgG4) in the blood, whereby at most trace quantities of IgG4 can be measured.


name: Chronic partially decreased circulating IgG4

description: A lasting limited decrease of immunoglobulin G4 (IgG4) in the blood.


Fractured calcaneus

description: A partial or complete breakage of the calcaneus.


Transient decreased circulating IgG2

description: A temporary reduction beneath the normal level of total immunoglobulin G2 (IgG2) in the blood circulation.


Chronic decreased circulating IgG2

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


Fractured knee

description: A partial or complete breakage of the knee.


Chronic (near) absent circulating IgG2

description: A lasting absence of immunoglobulin G2 (IgG2) in the blood, whereby at most trace quantities of IgG2 can be measured.


name: Chronic partially decreased circulating IgG2

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


Transient decreased circulating IgG1

description: A temporary reduction beneath the normal level of total immunoglobulin G1 (IgG1) in the blood circulation.


Chronic decreased circulating IgG1

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


Chronic (near) absent circulating IgG1

description: A lasting absence of immunoglobulin G1 (IgG1) in the blood, whereby at most trace quantities of IgG1 can be measured.


name: Chronic partially decreased circulating IgG1

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


Transient decreased circulating IgG3

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


Chronic decreased circulating IgG3

description: A lasting decrease of immunoglobulin G3 (IgG3) in the blood.


Fractured thoracic vertebra

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


Chronic (near) absent circulating IgG3

description: A lasting absence of immunoglobulin G3 (IgG3) in the blood, whereby at most trace quantities of IgG3 can be measured.


name: Chronic partially decreased circulating IgG3

description: A lasting limited decrease of immunoglobulin G3 (IgG3) in the blood.


name: Abnormal immunoglobulin level in body fluid

description: An abnormal deviation from normal levels of immunoglobulins in body fluids, such as mucous.


name: Increased immunoglobulin level in body fluid

description: An elevation from normal levels of immunoglobulins in body fluids, such as mucous.


name: Decreased immunoglobulin level in body fluid

description: An reduction from normal levels of immunoglobulins in body fluids, such as mucous.


Decreased body fat percentage

description: The percentage of fat as a part of total body weight below the norm, usually defined as less than 14% for females and less than 8% for males.


name: Abnormal proportion of exhausted T cells

description: A deviation from the normal proportion of exhausted T cell relative to T cell in the blood.


Fractured lower leg

description: Bone fracture anywhere in the tibia, fibula, or ankle.


Fractured skull

description: A partial or complete breakage of the skull.


Fractured phalanx

description: A partial or complete breakage of the phalanx.


Compression-fractured thoracic vertebra

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


Compression-fractured vertebra

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


Compression-fractured cervical vertebra

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


Compression-fractured lumbar vertebra

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


Avulsion fractured humerus

description: A fractured in which a fragment of the humerus tears away from the main mass of bone as a result of physical trauma.


Avulsion fractured tibia

description: A fractured in which a fragment of the tibia tears away from the main mass of bone as a result of physical trauma.


Avulsion fractured epiphysis of femur

description: A fractured in which the fragment of the epiphysis of femur bone tears away from the main mass of bone as a result of physical trauma.


Emotional hypersensitivity

description: Heightened emotional reactivity to environmental stimuli, including the emotions of others.


Beau's lines

description: A nail dystrophy that is preseents as grooved lines that run from side to side on the fingernail or the toenail that may look like indentations or ridges on the nail plate. They are caused by temporary disruption in the growth of proximal nail matrix. Trauma is usually the initiating factor such as infections, severe medical illnesses, major surgery/anesthesia, medication side effects, and autoimmune disease.


Complete tracheal ring

description: Continuous or nearly continuous configuration of the cartilaginous tracheal ring.


name: Decreased middle cerebral artery pulsatility index

description: Abnormally reduced blood flow pulsatility in in the middle cerebral artery (MCA). The pulsatility index (PI) is calculated using the following equation PI = (peak systolic velocity-end-diastolic velocity)/mean velocity.


Fractured metaphysis of femur

description: A partial or complete breakage of the metaphysis of femur.


Fractured right clavicle

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


Fractured left clavicle

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


Fractured lower limb segment

description: A partial or complete breakage of the lower limb segment.


Fractured upper limb segment

description: A partial or complete breakage of the upper limb segment.


Fractured metacarpus skeleton

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


name: Fractured epiphysis of fifth metacarpal bone

description: A partial or complete breakage of the epiphysis of fifth metacarpal bone.


Fractured tibia

description: A partial or complete breakage of the tibia.


Fractured clavicle bone

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


Fractured acetabular part of hip bone

description: A partial or complete breakage of the acetabular part of hip bone.


Fractured coccyx

description: A partial or complete breakage of the coccyx.


Fractured epiphysis

description: A partial or complete breakage of the epiphysis.


Fractured navicular bone of pes

description: A partial or complete breakage of the navicular bone of pes.


Fractured cuboid bone

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


Fractured sternoclavicular joint

description: A partial or complete breakage of the sternoclavicular joint.


Fractured ankle

description: A fracture or multiple fractures of one or more of three bones in the ankle joint: the tibia (shinbone), the fibula (outer ankle bone), and the talus (which is the bone that connects your leg to your foot).


Fractured mandible

description: A partial or complete breakage of the mandible.


Fractured orbit of skull

description: A partial or complete breakage of the orbit of skull.


Fractured larynx

description: A partial or complete breakage of the larynx.


Fractured rib

description: A partial or complete breakage of the rib.


Metatarsal fracture

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


Fractured manual digit

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


Fractured talus

description: A partial or complete breakage of the talus.


Fractured maxilla

description: A partial or complete breakage of the maxilla.


Fractured vertebra

description: A partial or complete breakage of the vertebra.


Fractured cervical vertebra

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


Fractured lumbar vertebra

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


Fractured fused sacrum

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


Fractured metacarpophalangeal joint

description: A partial or complete breakage of the metacarpophalangeal joint.


Fractured distal phalanx of manus

description: A partial or complete breakage of the distal phalanx of manus.


Fractured middle phalanx of pes

description: A partial or complete breakage of the middle phalanx of pes.


name: Fractured distal phalanx of manual digit 2

description: A partial or complete breakage of the distal phalanx of manual digit 2.


name: Fractured distal phalanx of manual digit 3

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


name: Fractured distal phalanx of manual digit 4

description: A partial or complete breakage of the distal phalanx of manual digit 4.


name: Fractured distal phalanx of manual digit 5

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


name: Fractured distal phalanx of pedal digit 1

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


name: Fractured distal phalanx of pedal digit 3

description: A partial or complete breakage of the distal phalanx of pedal digit 3.


name: Fractured middle phalanx of manual digit 2

description: A partial or complete breakage of the middle phalanx of manual digit 2.


name: Fractured middle phalanx of manual digit 3

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


name: Fractured middle phalanx of manual digit 4

description: A partial or complete breakage of the middle phalanx of manual digit 4.


name: Fractured middle phalanx of manual digit 5

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


name: Fractured middle phalanx of pedal digit 3

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


name: Fractured proximal phalanx of pedal digit 1

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


name: Fractured proximal phalanx of manual digit 1

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


Fractured epiphysis of femur

description: A partial or complete breakage of the epiphysis of femur.


name: Fractured epiphysis of second metacarpal bone

description: A partial or complete breakage of the epiphysis of second metacarpal bone.


name: Fractured epiphysis of third metacarpal bone

description: A partial or complete breakage of the epiphysis of third metacarpal bone.


name: Fractured epiphysis of fourth metacarpal bone

description: A partial or complete breakage of the epiphysis of fourth metacarpal bone.


name: Fractured epiphysis of first metatarsal bone

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


name: Fractured epiphysis of second metatarsal bone

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


name: Fractured epiphysis of third metatarsal bone

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


Fractured distal epiphysis of radius

description: A partial or complete breakage of the distal epiphysis of radius.


name: Fractured proximal epiphysis of first metacarpal bone

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


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

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


Fractured interphalangeal joint

description: A partial or complete breakage of the interphalangeal joint.


Fractured sternal end of clavicle

description: A partial or complete breakage of the sternal end of clavicle.


name: Fractured epiphysis of middle phalanx of manus

description: A partial or complete breakage of the epiphysis of middle phalanx of manus.


Fractured lateral malleolus of fibula

description: A partial or complete breakage of the lateral malleolus of fibula.


Fractured proximal phalanx of digit 2

description: A partial or complete breakage of the proximal phalanx of digit 2.


Fractured proximal phalanx of digit 3

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


Fractured proximal phalanx of digit 4

description: A partial or complete breakage of the proximal phalanx of digit 4.


Fractured proximal phalanx of digit 5

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


Fractured fused metatarsal bones 2-4

description: A partial or complete breakage of the fused metatarsal bones 2-4.


name: Fractured distal epiphysis of distal phalanx of manual digit 1

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


Fractured shoulder

description: A fracture or multiple fractures of the humerus (ball) or the glenoid (socket) of the shoulder joint.


Fractured distal phalanx

description: A partial or complete breakage of the distal phalanx.


Fractured elbow

description: A partial or complete breakage of the elbow.


Fractured facial bone

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


Fractured head of femur

description: A partial or complete breakage of the head of femur.


Fractured fibula

description: A partial or complete breakage of the fibula.


Fractured metatarsal bone of digit 5

description: A partial or complete breakage of the metatarsal bone of digit 5.


Fractured manual digit bone

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


Fractured metacarpal bone of digit 1

description: A partial or complete breakage of the metacarpal bone of digit 1.


Fractured distal tarsal bone

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


Fractured distal tarsal bone 2

description: A partial or complete breakage of the distal tarsal bone 2.


Fractured distal tarsal bone 3

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


Fractured metatarsal bone of digit 4

description: A partial or complete breakage of the metatarsal bone of digit 4.


Fractured metatarsal bone of digit 1

description: A partial or complete breakage of the metatarsal bone of digit 1.


Fractured ilium

description: A partial or complete breakage of the ilium.


Fractured bone of jaw

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


Fractured hindlimb bone

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


Fractured middle phalanx of manus

description: A partial or complete breakage of the middle phalanx of manus.


Fractured patella

description: A partial or complete breakage of the patella.


Fractured manual digit 1 phalanx

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


Fractured phalanx of pes

description: A partial or complete breakage of the phalanx of pes.


Fractured phalanx of manus

description: A partial or complete breakage of the phalanx of manus.


Fractured proximal phalanx of manus

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


Fractured scapula

description: A partial or complete breakage of the scapula.


Fractured shoulder bone

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


Fractured sternum

description: A partial or complete breakage of the sternum.


Fractured tarsal bone

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


Fractured carpal bone

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


Fractured nose

description: A partial or complete breakage of the nose.


name: Abnormal ossification of the trapezoid bone


Aplasia of lymphatic vessels

description: Aplasia (absence) of the lymphatic vessels.


Abnormal substantia nigra morphology

description: A structural anomaly of the substantia nigra, which is a midbrain dopaminergic nucleus which has a critical role in modulating motor movement and reward functions as part of the basal ganglia circuitry.


name: Abnormal peripheral nerve morphology by anatomical site

description: Abnormal morphology of a specific peripheral nerve


name: Decreased urine bicarbonate concentration

description: Abnormally decreased concentration of hydrogencarbonate in the urine.


name: Decreased urinary catecholamine concentration


name: Congenital malformation of the left heart

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


Narrow palpebral fissure

description: Reduction in the vertical distance between the upper and lower eyelids.


Abnormal mediastinum morphology

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


Elevated urinary aminoisobutyric acid

description: An increased amount of 3-aminoisobutyric acid in the urine.


name: Osteolysis involving bones of the upper limbs


name: Abnormal circulating lactate dehydrogenase concentration

description: A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate.


name: Decreased circulating complement C4 concentration

description: Concentration of the complement component C4 in the blood circulation below the lower limit of normal.


name: Decreased circulating complement C4a concentration

description: Concentration of the complement component C4a in the blood circulation below the lower limit of normal.


name: Elevated circulating acylcarnitine concentration

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


HbS hemoglobin

description: Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography.


Increased HbA2 hemoglobin

description: An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia.


Abnormal DLCO

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


Increased DLCO

description: Increased ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test.


Decreased DLCO

description: Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test.


name: Abnormality of the brachial nerve plexus

description: Any abnormality of the brachial nerve plexus.


name: Abnormality of the lumbosacral nerve plexus

description: Any abnormality of the lumbosacral nerve plexus.


Tiger tail banding

description: An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding.


name: Abnormal circulating alpha-fetoprotein concentration

description: Concentration of alpha-fetoprotein in the blood circulation outside normal limits.


name: Decreased circulating alpha-fetoprotein concentration

description: Concentration of alpha-fetoprotein in the blood circulation below the lower limit of normal.


Abnormality of the testis size

description: An anomaly of the size of the testicle (the male gonad).


Hyperkeratotic papule

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


name: Aplasia/hypoplasia involving bones of the extremities


Increased PIVKA-II

description: Des-gamma carboxyprothrombin (DCP) or pro-thrombin induced by vitamin K absence-II (PIVKA-II) is an abnormal prothrombin protein that is increased in the serum of patients with HCC. Generation of DCP is thought to be a result of an acquired defect in the post- translational carboxylation of the prothrombin precursor in malignant cells.


Thin eyebrow

description: Decreased diameter of eyebrow hairs.


Sparse eyebrow

description: Decreased density/number of eyebrow hairs.


Distal femoral metaphyseal irregularity

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


name: Decreased proportion of CD3-positive T cells

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


Abnormality of body mass index

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


Decreased body mass index

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


Knee joint hypermobility

description: The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees).


Anorgasmia

description: Inability of individual to reach orgasm.


Increased libido

description: Elevated sexual desire.


Decreased libido

description: Decreased sexual desire.


Hand pain

description: An unpleasant sensation characterized by physical discomfort localized to the hand.


Bradypnea

description: Bradypnea is referring to breathing that is abnormally slow.


Abnormal cervical spine morphology

description: Any morphological abnormality of the cervical vertebral column.


Early onset of sexual maturation

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


Testicular mesothelioma

description: A Malignant mesothelioma of the testis.


Stahl ear

description: The presence of a supernumerary, i.e. third, crus of the helix in the helix, arising at or above the normal bifurcation of the antihelix.


Abnormal mesentery morphology

description: Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium).


Capsular cataract

description: A cataract that affects the capsule of the lens.


Posterior capsular cataract

description: A cataract which is found in the back outer layer of the lens. This type often develops more rapidly.


Recurrent hand flapping

description: A type of repetitive behavior in which the affected individual repeatedly waves the hands and/or arms rhythmically.


Conspicuously happy disposition

description: An unusually happy demeanor over time, which can also be observed during inappropriate situations that should, for example, cause distress, fear, or anger.


Overfriendliness

description: A form of hypersociability that presents as mostly inappropriate friendliness towards others.


Recurrent pancreatitis

description: A recurrent form of pancreatitis.


Ectopic thyroid

description: Mislocalised thyroid gland.


Lingual thyroid

description: An aberrant thyroid gland or Ectopic thyroid located at the base of the tongue, just posterior to the foramen cecum as a result of a failure of the thyroid to descend.


Accessory ectopic thyroid tissue

description: Accessory ectopic thyroid tissue arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract.


Tics

description: Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppressible and are usually associated with awareness of an urge to perform the movement.


Motor tics

description: Movement-based tics affecting discrete muscle groups.