White streaks/specks on enamel.

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


pilocytic astrocytoma

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


Ulnar metaphyseal irregularity

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

Irregularity of the normally smooth surface of the metaphysis of the ulna.


capillary malformation

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


Abnormal arachnoid mater morphology

An abnormality of the Arachnoid mater.


Pulmonary arterial hypertension with positive acute response to NO challenge

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


Aortic smooth muscle cell disorganization

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


Abnormal superficial reflex

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


Bullet-shaped middle phalanges of the hand

Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Abnormal dendritic cell count

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


Carpal synostosis

Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).


Abnormal metatarsal ossification

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


Recurrent enteroviral infections

Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection.


Angel-shaped phalanx

A phalangeal malformation that is termed angel-shaped phalanx (ASP), because of its resemblance to the angels used for decoration of Christmas trees. The various components of an angel-shaped phalanx are: diaphyseal cuff (wings), surrounding a meta-diaphyseal core (body), which may appear empty or structured with a cone-shaped epiphysis (skirt) and pseudoepiphysis (head).


Abnormal circle of Willis morphology

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


Cutaneous syndactyly of toes

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


Increased anti-insect IgE antibody level

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


Abnormal clitoris morphology

Any structural abnormality of the clitoris.


Increased circulating ceruloplasmin concentration

Elevated concentration of ceruloplasmin in the blood circulation.


Distal tibial bowing

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


Osteochondroma

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


leishmaniasis, tegumentary, susceptibility to

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


Reduced FEV1/FVC ratio

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


Sclerosis of the proximal phalanx of the hallux


Premature epimetaphyseal fusion in hand

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


EEG with parietal sharp slow waves

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


Abnormality of glycolysis

An abnormality of glycolysis.


Increased circulating inosine concentration

An increased concentration of inosine in the blood circulation.


Ivory epiphyses of the distal phalanges of the hand

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


Abnormal TSH response to thyrotrophin-releasing hormone stimulation test

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


Abnormal glomerular mesangial matrix morphology

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


Global proximal tubulopathy

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


Persistence of hemoglobin F

Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent.


Increased basophil count

An abnormally increased count of basophils per volume in the blood circulation.


Parkinsonism with favorable response to dopaminergic medication

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


Short distal phalanx of the 4th finger

Hypoplastic/small distal phalanx of the fourth finger.


Derealization

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


Increased urinary potassium

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


Ventral shortening of foreskin

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


Molarization of premolar

Increased size and molar morphology of premolar tooth.


Large foramen magnum

An abnormal increase in the size of the foramen magnum.


Short finger

Abnormally short finger associated with developmental hypoplasia.


autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius

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


Aplasia/Hypoplasia of toe

Absence or hypoplasia of toes.


Bilateral asymmetric neonatal sequential seizure

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


Triangular shaped middle phalanges of the hand


Aplasia/hypoplasia involving bones of the hand

Absence (due to failure to form) or underdevelopment of the bones of the hand.


Midline direction of ventricular apex

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


Short 2nd finger

Hypoplasia of the second finger, also known as the index finger.


Dense calcifications in the cerebellar dentate nucleus


Focal cognitive seizure with receptive dysphasia/aphasia

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


Mesomelia

Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.


Automatic atrial tachycardia

Chronic supraventricular tachycardia predominantly seen in childhood.


Aglossia

Absence of the tongue owing to a developmental abnormality.


Beta-alaninuria

An increased level of beta-alanine in the urine.


phosphaturic mesenchymal tumor

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


Vaginal fish odor

A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA).


Glomerular basement membrane lucencies

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


Lumbar interpedicular narrowing

Narrowing (becoming gradually narrower) of the distance between lumbar vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column.


cardiac diverticulum

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


Abnormality of renal excretion

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


Inattentiveness illusion

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


Fractured proximal phalanx of digit 5

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


Uraciluria

Increased concentration of uracil in the urine.


Cranial asymmetry

Asymmetry of the bones of the skull.


Portal vein hypoplasia

A developmental defect characterized by underdevelopment of hte portal vein.


Increased HbA2 hemoglobin

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.


Decreased pineal volume

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


Triangular shaped phalanges of the 4th toe


Renal vasculitis

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


Duplication of phalanx of toe

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


Abnormality of the midnasal cavity

Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae.


Pubertal developmental failure in females


Compression-fractured cervical vertebra

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


Cortical radial artery endotheliosis

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


Semantic dementia

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


Congenital stapes ankylosis

A form of stapes ankylosis with congenital onset.


Focal impaired awareness sensory seizure with somatosensory features

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


Decreased urine alpha-ketoglutarate concentration

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


Aplasia/Hypoplasia of the colon

Congenital absence or underdevelopment of the colon.


Absent specific antibody response

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


pineoblastoma

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


Thymic cyst

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


Anti-Lrp4 antibody positivity

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


Symphalangism affecting the distal phalanx of the 3rd toe


Cutaneous telangiectasia

Dilated blood vessels on the skin.


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


Elevated brain gamma-aminobutyric acid by MRS

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


Complete duplication of the proximal phalanx of the 5th finger

Complete duplication of the fifth proximal phalanx of hand.


Ivory epiphysis of the 1st metacarpal

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


Symphalangism affecting the proximal phalanx of the 2nd finger

Fusion of the proximal phalanx of the 2nd finger with another bone.


Decreased CD4:CD8 ratio

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


Palmoplantar erythema

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


Absent nail of hallux

Absent nail of big toe.


Testicular ischemia

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


Anti-GAD65 antibody

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


Elevated urinary dopamine level

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


Abnormal CSF carnosine concentration

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


primary central nervous system lymphoma

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


Antidromic atrioventricular reentrant tachycardia

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


Focal impaired awareness automatism seizure

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


anotia

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


Abnormal greater sciatic notch morphology

An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.


Elevated prostate-specific antigen level

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


Aplasia/Hypoplasia of the external ear

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


Increased circulating chylomicron concentration

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


Increased serum estradiol

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


Abnormal helper T cell proportion

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


choanal atresia, bilateral

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


Mandibular pain

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


Distal lower limb muscle weakness

Reduced strength of the distal musculature of the legs.


Cleft earlobe

Discontinuity in the convexity of the inferior margin of the lobe.


Patchy sclerosis of the middle phalanx of the 2nd finger

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


Extreme axis deviation

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


Supraventricular tachycardia with a concealed accessory connection

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


Ectopia of the spleen

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


Decreased circulating carnitine concentration

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


Neonatal epileptic spasm

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


Irregular epiphysis of the distal phalanx of the 3rd finger

Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger.


congenital mesoblastic nephroma

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


Duplication of phalanx of the 3rd toe

Partial or complete duplication of phalanx of third toe.


Ph-positive acute lymphoblastic leukemia

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


Increased peripheral blast count

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


Antineutrophil antibody positivity

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


Short third metatarsal

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


Elevated circulating carnitine concentration

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


Abnormal fifth cranial nerve morphology

Any structural abnormality of the fifth cranial nerve.


Elevated urinary prostaglandin E2 metabolite level

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


Mild hearing impairment

The presence of a mild form of hearing impairment.


Mosaic pulmonary attenuation pattern

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


Decreased circulating glycerol level

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


Cleft helix

A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length.


Lower lip pit

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


Accumulation of melanosomes in melanocytes


Pregnancy history

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


Decreased level of histidine-rich glycoprotein

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


Ethylmalonic aciduria

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


Abnormal sacrum morphology

An abnormality of the sacral bone.


fetal lower urinary tract obstruction

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


Abnormal pituitary stalk morphology

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


Unilateral facial palsy

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


Cerebral hamartoma

The presence of a hamartoma of the cerebrum.


Symphalangism affecting the phalanges of the hallux


Abnormal cardiac magnetic resonance imaging finding

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


Abnormality of renin-angiotensin system

An abnormality of the renin-angiotensin system.


Patchy sclerosis of proximal phalanx of finger

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


Focal impaired awareness autonomic seizure with pallor/flushing

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


Androgen insufficiency

Insufficient amount of androgenic activity.


Cone-shaped epiphysis of the distal phalanx of the 5th finger

A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.


Aplasia cutis congenita over parietal area

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


Arm dystonia

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


Aplasia cutis congenita on trunk or limbs

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


Abnormal palatine bone morphology

An abnormality of the palatine bone.


Colon perforation

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


Reduced haptoglobin level

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


Weight loss

Reduction of total body weight.


Abnormal number of erythroid precursors

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


Anti-histone antibody positivity

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


Abnormality of the pharynx

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


Absent tragus

Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix.


Anticardiolipin IgG antibody positivity

The presence of circulating IgG autoantibodies to cardiolipin.


hyperpituitarism

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


Flattened femoral head

An abnormally flattened femoral head.


Multinucleated erythroblast

Erythroblasts with multiple nuclei. Erythroblasts are nucleated precrusor cells of erythrocytes that are localized to the bone marrow. Normally, erythroblasts have a single nucleus. The abnormal finding of erythrocytes with two or more nuclei may be related to defects in cytokinesis.


Anti-SUMO-activating enzyme antibody positivity

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


Abnormality of pain sensation

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


Elevated circulating CA19-9 concentration

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


Abnormal circulating antimullerian hormone concentration

Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases.


Ivory epiphyses of the middle phalanges of the hand

Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


Truncal ataxia

Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.


Partial duplication of thumb phalanx

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


Anti-HLA-B IgG1 antibody positivity

The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B).


Calcification of the aorta

Calcification, that is, pathological deposition of calcium salts in the aorta.


Elevated CSF 5-amino-4-imidazolecarboxyamide concentration

The concentration of 5-amino-4-imidazolecarboxyamide in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Anti-integrin antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against an integrin. Integrins are a family of cell adhesion molecules with 24 known integrin heterodimers. Integrins transduce mechanical and biochemical signals from fibrotic extracellular matrix into the cell, activate latent TGFbeta, and subsequently modulate fibroblast adhesion, migration, and growth.


Phaeohyphomycosis

Phaeohyphomycosis refers to infections due to a large group of heterogenous organisms called dematiaceous or melanized fungi. These fungi are distinguished by the predominance of melanin in their cell walls, which likely acts as a virulence factor. Virtually, everyone is exposed to dematiaceous fungi through inhalation, as they are ubiquitous in the environment, although the development of infection is extremely uncommon.


Prominent superficial veins

A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal.


Elevated circulating palmitoleylcarnitine concentration

An elevated level of propionylcarnitine in the circulation. Propionylcarnitine is present in high abundance in the urine of patients with Methylmalonyl-CoA mutase (MUT) deficiency.


Renal arteriole intima/media arteriolosclerosis

Thickening of the intima of renal arterioles with fibrosis and/or duplication of the elastic lamina.


Focal cognitive seizure with anomia

A focal cognitive seizure characterized by anomia as the initial semiological manifestation.


Decreased compound muscle action potential amplitude

Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve.


Fractured distal phalanx of manual digit 3

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


brachydactyly type A3

Hypoplastic/small middle phalanx of the fifth finger.


Abnormal inner ear epithelium morphology

Any structural anomaly of an inner ear epithelium.


Abnormal pulse pressure

An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure.


Neonatal hyperbilirubinemia

A type of hyperbilirubinemia with neonatal onset.


Persistent preoccupation with parts of objects

A type of abnormal interest characterized by a persistent and intense focus on parts of a toy/object. For example, affected individuals may spin the wheels on a toy car rather than drive the toy car.


Absent circulating B cells

Complete lack of mature B cells, that is, of B cells that have left the bone marrow.


Small fontanelle

A fontanelle that is small for age.


Abnormal social imitation

A reduced ability to imitate a task or the movements of others.


Short proximal phalanx of the 2nd finger

Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger.


Small thumb epiphysis

Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms.


Pectoralis hypoplasia

Underdevelopment of the pectoral muscle.


Abnormal liver parenchyma morphology

A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells.


Decreased urinary sulfate

Decreased concentration of sulfate in the urine.


Venous stenosis

Narrowing of a vein due to intimal hyperplasia and fibrosis.


Patchy sclerosis of the middle phalanx of the 2nd toe


Pseudoepiphysis of the distal phalanx of the 4th toe


Addictive behavior

When an activity, substance, object, or behavior becomes a major focus of a person's life, excluding other activities, or has begun to harm the individual or others physically, mentally, or socially, it can be considered addictive behavior. A person can become addicted or compulsively engaged with anything.


Pontine T2 hypointensity

A darker than expected T2 signal on magnetic resonance imaging (MRI) of the pons.


Acrosomal hypoplasia

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


Absent distal phalanx of the 2nd toe

Absence of distal phalanx of the second toe as a result of developmental aplasia.


Abnormal circulating cysteine concentration

An abnormality of a cysteine metabolic process.


Abnormal bronchoalveolar lavage fluid morphology

Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions.


Scrotal hypospadias

Hypospadias with location of the urethral meatus in the scrotum.


Narrow penis

Penile width more than 2 standard deviations (SD) below the mean for age. Alternatively circumference of the flaccid penis more than 2 SD below the mean for age. Alternatively, apparently decreased penile width for age.


Bilineage myelodysplasia

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


Abnormal vestibular function

An abnormality of the functioning of the vestibular apparatus.


ectodermal dysplasia syndrome

The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.


Localized hypoplasia of dental enamel

A localized form of developmental hypoplasia of the dental enamel.


Microform unilateral cleft lip

Notch, groove, or scar of the upper lip without noticeable rupture of the lip. Microforms are sometimes associated with disruption of the continuity of the orbicularis oris muscle.


Ivory epiphyses of the metacarpals

Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Functional abnormality of the middle ear

An abnormality of the function of the middle ear.


Anti-Hu antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Hu.


Hemoglobin Barts

Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues.


Elevated circulating soluble FASL concentration

The concentration of soluble FASL in the blood circulation is above the upper limit of normal. The first apoptosis signal receptor (FAS) pathway regulates apoptosis and is critical for proper development and functioning of the immune system. FAS ligand (FASL) can bind to FAS receptors.


Lumbosacral hirsutism

Abnormally increased hair growth in the lumbosacral region.


Progressive hearing impairment

A progressive form of hearing impairment.


Focal aware motor seizure with paresis/paralysis

A focal motor seizure with paresis / paralysis characterized by retained awareness throughout the seizure.


Abnormal axial skeleton morphology

An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum.


Common carotid artery dissection

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


Poor head control

Difficulty to maintain correct position of the head while standing or sitting.


Severe T-cell immunodeficiency

A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms.


Abnormality of ethmoid sinus

An abnormality of an ethmoid sinus.


Abnormal third ventricle morphology

An abnormality of the third ventricle.


Aplasia/Hypoplasia of the middle phalanx of the 5th toe


Perifollicular hyperkeratosis

Increased amount of keratin (visible as white scales) surrounding hair follicles.


EEG with generalized low amplitude activity

An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


Supernumerary finger flexion crease

The presence of an extra digital crease in and individual with normal joint anatomy.


Narrow palate

Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).


borderline personality disorder

A disorder characterized by an enduring pattern of unstable self-image and mood together with volatile interpersonal relationships, self-damaging impulsivity, recurrent suicidal threats or gestures and/or self-mutilating behavior.


EEG with generalized sharp slow waves

EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.


Septate vagina

The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases.


Anti-H3 antibody positivity

The presence of autoantibodies in the blood circulation that react against histone H3.


Elevated ciculating 5-hydroxymethyluracil concentration

An increased concentration of 5-hydroxymethyluracil in the blood circulation.


Abnormal great auricular nerve morphology

Any structural anomaly of a great auricular nerve.


Hyperketonemia

An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood.


Abnormal serum bile acid concentration

A deviation from the normal concentration of serum bile acid concentration.


Low-molecular-weight proteinuria

Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).


Genital blistering

The presence of one or more bullae on the skin of the genital region, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.


Increased circulating dehydroepiandrosterone concentration

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


Infantile encephalopathy

Encephalopathy with onset in the infantile period.


Abnormal cardiomyocyte connexin43 staining

Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases.


Limb dystonia

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


Coarctation in the transverse aortic arch

Narrowing or constriction of the aorta localized to the region of the transverse aortic arch.


Axial dystonia

A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles.


Abnormal carbon dioxide level in cord blood

Abnormal amount of carbon dioxide in umbilical cord blood


Increased circulating precipitin level

The presence of high titers of antigen-precipitating IgG in the serum.


Triangular shaped proximal phalanges of the toes


Elevated circulating tetracosanoic acid concentration

Elevated concentration of tetracosanoic acid (a C24 straight-chain saturated fatty acid) in the blood circulation.


Abnormal aryepiglottic fold morphology

An abnormality of the aryepiglottic fold.


Gonadal neoplasm

A tumor (abnormal growth of tissue) of a gonad.


bronchogenic cyst

Bronchogenic cysts (BCs) are congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum.


Aplastic pubic bone

A developmental defect characterized by lack of development of the pubis bone.


Sclerosis of the proximal phalanx of the 3rd toe

An elevation in bone density in the proximal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Abnormality of the epiphysis of the middle phalanx of the 5th toe


Progressive massive fibrosis

This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and in the upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis.


Tessier number 7 facial cleft

The temporozygomatic Number 7 cleft is found in both Treacher Collins syndrome and hemifacial microsomia. Soft tissue manifestations include macrostomia, malformations of the external and middle ear, temporalis muscle, variable involvement of the seventh cranial nerve (in hemifacial microsomia), and abnormalities of the preauricular hair in Treacher Collins syndrome. The skeletal cleft is through the pterygomaxillary junction, and vertical maxillary hypoplasia is present. In addition, abnormality of the mandibular ramus, coronoid, and condyle and absence of the zygomatic arch are typically present. A soft tissue furrow extends from the macrostomia laterally and superiorly across the cheek toward the preauricular hairline. The lower eyelids are intact. The anatomy of the external ear is normal, and there are no preauricular tags. Bony clefting is through the pterygomaxillary junction with hypoplasia of the alveolar process in the molar region, thereby producing a posterior open bite. The maxilla is hypoplastic, although the maxillary sinuses are symmetrically pneumatized. The hypoplastic zygomatic body arches upward, but then it takes a downward course and is severely malformed and displaced. The zygoma is continuous posteriorly with an apparently normal zygomatic process of the temporal bone. The mandibular condyle and coronoid process are hypoplastic and asymmetric. There is no antegonial notching of the mandible. Marked cranial base asymmetry, with tilting and asymmetric positioning of the temporomandibular articulations, is present. The anatomy of the sphenoid is abnormal, especially on the right where there is no recognizable medial or lateral pterygoid plate.


familial hemolytic anemia

A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies.


Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Selective tooth agenesis

Agenesis specifically affecting one of the classes incisor, premolar, or molar.


Global mesangial sclerosis

A generalized global (over 80%) increase of mesangial matrix that is present throughout the mesangial stalk (with or without associated mesangial hypercellularity).


Addictive sedative use

Misuse and/or abuse of sedative drugs.


dysgerminoma

A malignant germ cell tumor characterized by the presence of a monotonous primitive germ cell population. The neoplastic cells form aggregates and have an abundant pale cytoplasm and uniform nuclei. The aggregates of the germ cells are separated by fibrous septa which contain inflammatory cells, mostly T-lymphocytes. It arises primarily in the ovaries, but can occur both primarily and secondarily at other sites, particularly the central nervous system. It responds to chemotherapy and radiotherapy. Its prognosis is related to the tumor stage.


Fetal fifth finger clinodactyly

Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (PMID:16100637).


Urinary glycosaminoglycan excretion

Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit.


Abnormal peripheral action potential amplitude

An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve.


Lymphoid cholangitis

Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement.


Oxygen desaturation on exertion

Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa.


Anterior wedging of T12

An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front).


Sclerosis of the middle phalanx of the 3rd toe

An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Focal active colitis

Focal active colitis (FAC) is characterized by focal crypt damage caused by neutrophils. FAC is characterized by an inflammatory infiltrate consisting of intraepithelial neutrophils and/or neutrophils invading the lumen of the criptae, with no other microscopic alteration of the colonic mucosa and, in particular, without the presence of signs of chronic inflammation.


Hyperoxemia in cord blood

An abnormally high level of blood oxygen in the cord blood.


Abnormality of the cervical spine

Any abnormality of the cervical vertebral column.


Multicentric ossification of proximal femoral epiphyses


Complete duplication of the first metacarpal bone.


Aplasia/Hypoplasia of the capital femoral epiphysis

Absence or underdevelopment of the proximal epiphysis of the femur.


Sclerotic vertebral endplates

Sclerosis (increased density) affecting vertebral end plates.


selective IgA deficiency disease

A dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class A (IgA). It is the most common primary antibody deficiency. It may be inherited or the reversible sequela of infection or certain drugs. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Though affected persons may be asymptomatic, low levels of IgA will reduce the immune system's ability to combat infection where IgA is normally secreted, at mucosal surfaces. Selective IgA deficiency is seen in greater proportion among patients with autoimmune disorders.


Oocyte arrest at metaphase I

Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage.


Impaired renal tubular reabsorption of bicarbonate

Decreased renal tubular reabsorption of bicarbonate.


Focal T2 hypointense brainstem lesion

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


Loss of glomerular endothelial cell fenestration

Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm.


Abnormality of the lower limb

An abnormality of the leg.


Uterine cervix mass

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.


Impaired executive functioning

A disturbance of executive functioning, which is broadly defined as the set of abilities that allow for the planning, executing, monitoring, and self-correcting of goal-directed behavior while inhibiting task-irrelevant behavior. At least some degree of executive skill is needed to complete most cognitive tasks, and deficits in executive abilities are central to many clinical conditions, including fronto-temporal dementia.


Decreased circulating beta-carotene concentration

The concentration of beta-carotene in the blood circulation is below the lower limit of normal.


Right ventricular outlet tract obstruction

An obstruction to the forward flow of blood in the outflow tract of the right ventricle.


alveolar soft part sarcoma

An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh.


Paraseptal emphysema

Paraseptal emphysema is characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa. This emphysema is characterized by subpleural and peribronchovascular regions of low attenuation separated by intact interlobular septa, sometimes associated with bullae.


adenoid hypertrophy

An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing.


Simultanapraxia

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.


Hypoplasia of the femoral head

Underdevelopment of the femoral head.


Abnormal circulating IgD level

An abnormal deviation from normal levels of IgD immunoglobulin in blood.


Decreased circulating selenium concentration

An abnormally reduced concentration of selenium in the blood circulation.


Breast abscess

A circumscribed area of pus or necrotic debris in the breast.


Abnormality of central nervous system electrophysiology


Wind-swept deformity of the knees

The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other.


Redundant skin on fingers

Loose and sagging skin of the fingers.


Dysplastic distal radial epiphyses

Abnormally developed (dysplastic) distal epiphysis of the radius.


Abnormal scrotum morphology

Any structural abnormality of the scrotum, i.e., the sac that contains the testes, epididymis, and the lower part of the spermatic cord.


Spermatocyte maturation arrest

A type of spermatogenesis maturation arrest in which the block of developmental occurs in the spermatocyte stage. Testicular histology shows seminiferous tubules with Sertoli cells, spermatogonial cells and spermatocytes but no further differentiated cells like round spermatids.


Right aortic arch with retroesophageal left subclavian artery


upper limb mesomelic dysplasia

This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity.


CSF autoimmune antibody positivity

The presence of an antibody in the cerebrospinal fluid (CSF) that is directed against the organism's own cells or tissues.


Abnormality of lipoprotein cholesterol concentration

An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood.


Recurrent hand flapping

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


Lithoptysis

Expectoration (coughing up) of a broncholith. Broncholithiasis is defined as the presence of calculi in the tracheobronchial tree. It is a rare disease but can be characterized by clinical and radiological findings of a calcified lymph node eroding bronchial wall and opening into the bronchial lumen.


Penile swelling

Abormal enlargement of the penis owing to accumulation of fluid.


Thymic carcinoid tumor

A primary thymic neuroendocrine tumor.


Duplication of pancreatic duct

A congenital anomaly characterized by the presence of two separate pancreatic ducts.


Hyperpigmented genitalia

Localized or generalized increased genital pigmentation.


Renal hamartoma

A disordered proliferation of mature tissues that are native to the kidneys.


Abnormal cerebellar vermis morphology

An anomaly of the vermis of cerebellum.


Delayed ability to stand

A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months.


Abnormal interlobular vein lumen morphology

Any structural anomaly located in the the inside space of the interlobular veins of the kidney.


Prolonged brainstem auditory evoked potentials


Hypochloriduria

An decreased concentration of chloride in the urine.


Bone-in-a-bone appearance of forearm

A descriptive term for a forearm bone that appears to have an additional bone within it on radiography.


Anti-tissue transglutaminase antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against tissue transglutaminase.


Spinal arachnoid cyst

Presence of arachnoid cysts of the spinal canal extradurally in the epidural space.


Decreased CSF albumin concentration

CSF albumin level is below the lower limit of normal.


Sclerosis of 2nd finger phalanx

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


Pulmonary imaging sign

An abnormal pulmonary imaging finding defined by eponym or reference to signs, symbols, or naturalistic images.


Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal

Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal.


Femoral hernia

A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal.


Cutaneous lichen amyloidosis

Lichen amyloidosis presents with multiple localized or rarely generalized, hyperpigmented grouped papules with a predilection for the shins, calves, ankles, and dorsa of the feet and thighs.


Hypersegmentation of proximal phalanx of second finger

Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger.


Complete duplication of the middle phalanx of the 4th finger

Complete duplication of the middle phalanx of ring finger.


Absent earlobe

Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura.


Agenesis of pulmonary vessels

A developmental defect characterized by the lack of formation of the pulmonary blood vessels.


Abnormal pulmonary valve morphology

Any structural abnormality of the pulmonary valve.


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF155.


Aplasia/Hypoplasia of the ulna

Absence or underdevelopment of the ulna.


Complete duplication of thumb phalanx

A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.


Fragmentation of the epiphysis of the proximal phalanx of the thumb

Epiphysis of the proximal phalanx of the thumb having multiple bony fragments.


Focal motor seizure with paresis/paralysis

A focal motor seizure characterized by weakness or complete paralysis of a muscle or group of muscles as the initial semiological manifestation.


Premature eruption of permanent teeth

Premature tooth eruption of the permanent dentition.


Abnormality of circulating glucocorticoid level

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


Motor conduction block

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


Respiratory insufficiency due to muscle weakness


Mesangial fibril deposition

Extracellular mesangial accumulation of slender proteinaceous fibers.


Flat acetabular roof

Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.


Triangular epiphysis of the proximal phalanx of the 4th toe


Decreased glucose-6-phosphate dehydrogenase level in blood

A decrease in the level of glucose-6-phosphate dehydrogenase in the blood.


Abnormal dental enamel morphology

An abnormality of the dental enamel.


Champagne cork sign

Characteristic appearance of the chest and abdomen in the sagittal view on prenatal ultrasound when the chest is small and the abdomen protruding.


Enlarged semicircular canal

Increased size of the semicircular canal.


Prolonged bleeding following procedure

Prolonged or protracted bleeding following an invasive procedure or intervention.


Aphasic status epilepticus

Aphasic status epilepticus is a type of focal non-convulsive status epilepticus without coma characterized by a cognitive (rather than motor) language deficit.


Intermittent diarrhea

Repeated episodes of diarrhea separated by periods without diarrhea.


Thinning and bulging of the posterior fossa bones


Abnormal sudomotor regulation

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


Thin long bone diaphyses

Decreased width of the diaphysis of long bones.


Slender build

Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.


Anti-LABD97 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against LABD97, which is structurally identical to a portion of the extracellular domain of BPAg2. BPAg2, a 180 kDa bullous pemphigoid antigen, is a transmembrane protein important for basement membrane cohesion.


perinatal asphyxia

A disorder caused by a lack of blood flow or gas exchange to or from the fetus in the period immediately before, during, or after the birth process.


Narrow iliac wing

Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).


Perioral erythema

Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth.


Absent ossification of capital femoral epiphysis

Lack of ossification of the proximal epiphysis of the femur.


Focal cognitive seizure with dysgraphia/agraphia

A focal cognitive seizure characterized by dysgraphia / agraphia as the initial semiological manifestation.


Prominent superior crus of antihelix

Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem.


Stiff tongue

Increased rigidity and reduced mobility of the tongue.


Endocrine-type tubular atrophy

A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes.


Reduced attention regulation

An abnormality in one's ability to control their attention towards a specific subject or task can include difficulties in changing or maintaining attention.


Impaired thrombin-induced platelet aggregation

Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics).


Right axis deviation

A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between +90 degrees and 180 degrees, or beyond +100 degrees if the adult range is used.


Short philtrum

Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.


Cerebellar vermis atrophy

Wasting (atrophy) of the vermis of cerebellum.


cutaneous mastocytosis

Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis.


Splanchnic vein thrombosis

The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity).


Clumping of elastic fibers in the dermis

Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis).


Bilateral multifocal epileptiform discharges

Epileptiform discharges being identified at multiple locations in both hemispheres.


Curved distal phalanx of the 4th toe

A deviation from the normal straight form of the distal phalanx of the fourth toe.


Focal aware motor seizure with dystonia

A focal motor seizure with dystonia characterized by retained awareness throughout the seizure.


Predominantly epidermal neutrophilic infiltrate

Collection of neutrophils in the epidermis.


Jaw hyperreflexia

Increased intensity of muscle tendon reflexes in jaw.


Duplication of the distal phalanx of the 5th finger

Partial or complete duplication of the distal phalanx of little finger.


Abnormal proportion of transitional B cells

A deviation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.


Abnormal cardiac atrium morphology

Any structural abnormality of a cardiac atrium.


High-pitched cry

A type of crying in an abnormally high-pitched voice.


Microform cleft of the upper lip

Notch, groove, or scar of the upper lip without noticeable rupture of the lip.


Abnormality of the pulmonary artery

An abnormality of the pulmonary artery.


Abnormal circulating mannose-binding protein concentration

Any deviation from the normal concentration of mannose-binding protein in the blood circulation.


Crimped helix

Linear, circumferential indentation in the convexity of the outer surface of the helix.


Enlarged cisterna magna

Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata.


Spermatogonial maturation arrest

A type of spermatogenesis maturation arrest in which the block of developmental occurs in the spermatogonial stage. Testicular histology shows seminiferous tubules with Sertoli cells and spermatogonial cells but no further differentiated cells like spermatocytes or round spermatids.


Anterior radial head dislocation

A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction.


Wide proximal femoral metaphysis

Increased width of the proximal part of the shaft (metaphysis) of the femur.


Cortical radial artery intima/media coagulative necrosis

A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.


Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio

A reduced amount of testosterone relative in androstenedione in the blood circulation following administration of hCG (Human Chorionic Gonadotropin).


Anti-soluble liver antigen/liver pancreas antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against soluble liver antigen.


Sudden episodic apnea

Recurrent bouts of sudden, severe apnea that may be life-threatening.


Anemia of inadequate production

A kind of anemia characterized by inadequate production of erythrocytes.


Hypoplasia of the frontal lobes

Underdevelopment of the frontal lobe of the cerebrum.


Decreased urine creatinine level

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


Abnormal central motor function

An anomaly of the control or production of movement in the central nervous system.


Contracture of the metacarpophalangeal joint of the 5th finger

Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue.


Ventricular preexcitation with multiple accessory pathways

A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction.


Decreased RV/TLC ratio

An abnormally low ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining after maximal expiration and TLC is the total amount of air in the lungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography.


Fractured shoulder

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


Grade IV vesicoureteral reflux

Vesicoureteral reflux with more-extensive dilation with blunting of the calyces and tortuosity of the ureter.


2-oxoadipic aciduria

The amount of 2-oxoadipic acid in the urine, normaliyed for urine concentration, is above the upper limit of normal.


uniparental disomy

A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders.


Splenic hemophagocytosis

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


Progressive extrapyramidal muscular rigidity

A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).


Reduced fetal long bone echogenicity

An abnormally decreased echogenicity of fetal long bones in a prenatal sonographic investigation. Ths finding is due to hypomineralization and can be seen in some disorders such as hypophosphatasia, osteogenesis imperfecta, and achondrogenesis.


Aplasia/Hypoplasia of the cerebellar vermis

Absence or underdevelopment of the vermis of cerebellum.


Fetal skin edema

A separation of skin in one or more regions of the body or even along the entire length of body wall (to a degree greater than gestational-age related norms) related to pathologically increased fluid accumulation in the subcutaneous tissue.


Type II atherosclerotic lesion

Type II atherosclerotic lesions include the fatty streak lesion, the first grossly visible lesion, and are characterized by layers of macrophage foam cells and lipid droplets within intimal smooth muscle cells and minimal coarse-grained particles and heterogeneous droplets of extracellular lipid.


Occipital horn

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


Inferior cerebellar vermis hypoplasia

Underdevelopment of the inferior portion of the vermis of cerebellum.


Duplication of phalanx of 3rd finger

This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.


Poor gross motor coordination

An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts.


Abnormal middle phalanx morphology of the hand

An anomaly of middle phalanx of finger.


Angulation of penis

Abnormally increased curvature of the penis.


Reduced erythrocyte 2,3-diphosphoglycerate concentration

This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation.


Aplasia/Hypoplasia involving the corticospinal tracts


IgM heavy chain paraproteinemia

An abnormal IgM heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.


Abnormality of the bladder

An abnormality of the urinary bladder.


Hepatic lobular inflammation

Infiltration of inflammatory cells in lobules of the liver. A focus of lobular inflammation can be defined as two or more inflammatory cells (neutrophils, lymphocytes and other mononuclear cells, eosinophils and microgranulomas) within the lobule present within the sinusoids or surrounding injured hepatocytes (ballooned or apoptotic hepatocytes).


Ureteral hamartoma

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


Hypercystinemia

An increased amount of cystine in the blood.


Peripheral schwannoma

The presence of a peripheral schwannoma.


Reduced red cell pyruvate kinase level

Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate.


Ivory epiphyses of the proximal phalanges of the hand

Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


Deficit in phonologic short-term memory

Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory


Pneumocystis jirovecii pneumonia

An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing.


Renal cortical adenoma

The presence of an adenoma in the cortex of the kidney.


Oligodontia

The absence of six or more teeth from the normal series by a failure to develop.


Myelin-dependent gliosis

A type of gliosis that occurs in the vicinity of injured neurons.


testicular agenesis

An abnormality of XY sexual development characterized by the absence of both testes at birth.


Stippling of the epiphysis of the middle phalanx of the 3rd toe

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


Elevated circulating apolipoprotein C-III concentration

An increased concentration in blood of apolipoprotein C-III, a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons.


Abnormal epidermal morphology

An abnormality of the morphology of the epidermis.


Osteolytic defects of the distal phalanx of the 3rd toe


Severe viral infection

An unusually severe viral infection.


Focal emotional seizure with laughing

Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless'.


Posterior wedging of vertebral bodies

An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back).


Elevated urine fumaric acid level

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


Abnormal posterior pituitary morphogenesis

An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis.


Abnormal choroid plexus morphology

An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells.


Reduced circulating erythropoietin concentration

Decreased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.


Small epiphysis of the distal phalanx of the 5th finger

Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms.


Distributive shock

A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage


Knee extension contracture

A type of knee joint contracture in which the knee lacks full expected flexion, such that the upper and lower leg cannot be brought together.


Abnormality of skin physiology

Any abnormality of the physiological function of the skin.


Large intestinal polyposis

The presence of multiple polyps in the large intestine.


Compression-fractured lumbar vertebra

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


Abnormal hallux morphology

This term applies for all abnormalities of the big toe, also called hallux.


Displaced lobar tracheal bronchus

Accessory entire right upper lobe bronchial system originating from the trachea with absent anatomically normal upper lobe bronchus.


Duplication of the middle phalanx of the 4th finger

Partial or complete duplication of the middle phalanx of ring finger.


Abnormal number of teeth

The presence of an altered number of of teeth.


Abnormal drinking behavior

Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption.


Abnormal nasopharyngeal adenoid morphology

Any abnormality of nasopharyngeal adenoids.


Partial duplication of the middle phalanx of the 5th finger

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


Ivory epiphysis of the middle phalanx of the 2nd finger


Abnormality of iron homeostasis

An abnormality of the homeostasis (concentration) of iron cation.


Ventricular preexcitation

An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway.


Duplication of the phalanges of the 5th toe

Partial or complete duplication of one or more phalanx of little toe.


Partial duplication of the 1st metatarsal

A developmental defect consisting in the duplication of part of the first metatarsal bone.


Bracket epiphyses of the proximal phalanges of the hand

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


Rest dyspnea

A perception of shortness of breath that occurs independently of exertion.


Chronic rhinitis due to narrow nasal airway


Thalamic hemorrhage

Bleeding in the thalamus.


histiocytoma

A mesenchymal tumor composed of fibroblastic and histiocytic cells.


Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT

A nodular pattern on pulmonary high-resolution computed tomography that displays a tree-in-bud pattern, representing centrilobular branching structures that resemble a budding tree.


Abnormal proportion of marginal zone B cells

A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.


Abnormality of neutrophil morphology in CSF

An abnormal form or size of neutrophils in the cerebrospinal fluid.


atrial septal defect, ostium primum type

Atrioventricular septal defect with communication at the atrial level only.


Partial duplication of the middle phalanx of the 4th finger

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


Anti-GM1 IgG antibody positivity

The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GM1.


Increased urinary copper concentration

An increased concentration of copper in the urine.


Amyotrophy involving the shoulder musculature


Dextrotransposition of the great arteries

A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA.


Clubbing of toes

Terminal broadening of the toes (distal phalanges of the toes).


mononeuritis multiplex

A painful asymmetric asynchronous sensory and motor peripheral neuropathy involving isolated damage to at least 2 separate nerve areas; associated with (but not limited to) systemic disorders such as diabetes, vasculitis, amyloidosis, direct tumor involvement, polyarteritis nodosa, rheumatoid arthritis, systemic lupus erythematosus, and paraneoplastic syndromes. It also may be associated with Lyme disease, Wegener's granulomatosis, Sjogren syndrome, cryoglobulinemia, hypereosinophilia, temporal arteritis, scleroderma, sarcoidosis, leprosy, acute viral hepatitis A, and acquired immunodeficiency syndrome.


factor V deficiency

A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood.


Fractured epiphysis of second metatarsal bone

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


Absence of epidermal lamellar bodies

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.


Abnormal cerebral cortex morphology

Any structural abnormality of the cerebral cortex.


Anti-beta-2-Glycoprotein I IgG antibody positivity

Presence of IgG antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome.


Peripheral dysmyelination

Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination.


motor peripheral neuropathy

Inflammation or degeneration of the peripheral motor nerves.


Alveolar bone loss around teeth

A decrease in the amount of alveolar bone around the root of a tooth.


Anti-desmoplakin I antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-1.


Darwin notch of helix

Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix.


Silver-gray hair

Hypopigmented hair that appears silver-gray.


Abnormal circulating sex hormone concentration

Any deviation from the normal concentration of a sex hormone in the blood circulation


Irregular epiphyses of the distal phalanges of the hand


High serum calcifediol

An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3.


Microform bilateral cleft lip

Bilateral cleft lip in which the cleft lip on both sides are microform, i.e. a notch, groove, or scar without noticeable rupture of the lip.


Decreased CSF phenylalanine concentration

Abnormally decreased levels of phenylalanine in cerebrospinal fluid.


Vertebral hyperostosis

Excessive growth of the bones of the vertebral bodies.


Cardiomyocyte hypertrophy

An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes.


Lipid-laden lymph node macrophages

Lymph node with increased numbers of macrophages heavily laden with lipids.


Large posterior fontanelle

An enlargement of the posterior fontanelle relative to age-dependent norms.


Intraventricular arachnoid cyst

An arachnoid cyst located within the ventricular system.


Curved proximal phalanx of the hallux

A deviation from the normal straight form of the proximal phalanx of the big toe.


Decreased intestinal transit time

A reduction in the length of time required for food to pass through the intestines.


Upper limb amyotrophy

Muscular atrophy involving the muscles of the upper limbs.


Patent ductus arteriosus after birth at term

Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater.


Decreased circulating creatine kinase concentration

A reduction in the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood.


acalvaria

Acalvaria is a rare malformation defined as missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (e.g. holoprosencephaly or gyration anomalies). Skull base and facial bones are normal.


Cervical aortic arch

The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta.


adrenogenital syndrome

Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children.


Increased CSF methionine concentration

Concentration of methionine in the cerebrospinal fluid above the upper limit of normal.


Impaired nasal mucociliary clearance

An abnormally increased amount of time required to clear mucus (and substances contained in the mucus) from the nasal mucosa. The nasal mucociliary clearance (NMC) system functions to transport the mucous layer lining the nasal epithelium towards the naso pharynx by ciliary beating in a metachronous fashion at a frequency of 7-16 Hz. NMC depends upon two principal components: physicochemical qualities and quantities of mucus and the properties of cilia that propel it. NMC is considered to be representative of pulmonary clearance. normal NMC time is determined to be up to 20 minutes. Duration of 30 minutes is considered as the cutoff point that discriminates normal subjects from subjects with impaired NMC. NMC can be measured by determination of the transport time of markers that are placed on the nasal mucosa including saccharine, radioactive markers, and dyes.


Notched P wave

V-shaped cut (notch) in the middle of the P wave.


Bifid nail

A digit with two nails, with at least some soft tissue between them.


Anti-angiotensin-converting enzyme 2 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin-converting enzyme 2.


Ectopic thymus tissue

The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend.


Congenital facial diplegia

Facial diplegia (that is, bilateral facial palsy) with congenital onset.


Persistent cloaca

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


Synotia

A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw.


Progressive distal muscular atrophy

Progressive muscular atrophy affecting muscles in the distal portions of the extremities.


Differential cyanosis

Differential degree of bluish discoloration between the upper and lower extremities.


malignant pericardial mesothelioma

A rare neoplasm of mesothelial origin that arises from the pericardium.


Increased urinary 1-methylhistidine

Increased concentration of 1-methylhistidine in the urine.


Cardiac conduction abnormality

Any anomaly of the progression of electrical impulses through the heart.


Recurrent coughing spasms

Repeated occurrence of episodes of coughing, with each episode consisting of at least five minutes of continuous coughing.


Dysgenesis of the hypothalamus

Structural abnormality of the hypothalamus related to defective development.


EEG with occipital focal spike waves

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


Hypoplasia of proximal radius

Proximal radial shortening owing to a congenital defect of development.


Abnormal endometrium morphology

An anomaly of the inner mucous membrane of the uterus.


Anomalous branches of internal carotid artery


Abnormality of the upper urinary tract

An abnormality of the upper urinary tract.


Maternal fever in pregnancy

The occurence of an elevated body temperature of the mother during pregnancy.


Increased spinal bone density

Increased bone density affecting the bones of the spine (vertebral column).


Descending aorta hypoplasia

Significant luminal narrowing of a long segment of the descending aorta.


Low femoral bone density

Reduced bone mineral density of the femur.


Complete duplication of the phalanges of the 2nd toe

Complete duplication of a phalanx of second toe.


Increased circulating IgD level

An abnormally increased level of immunoglobulin D in blood.


Dysplastic pulmonary valve

A congenital malformation of the pulmonary valve characterized by leaflet deformation.


3-5 finger syndactyly

Syndactyly with fusion of fingers three to five.


Global cerebellar dysplasia

A type of cerebellar dysplasia that affects the entire cerebellum.


Anti-thyroid-stimulating hormone receptor antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid-stimulating hormone.


Shoulder girdle muscle atrophy

Amyotrophy affecting the muscles of the shoulder girdle.


Abnormality of the musculature of the upper limbs


Anterior bowing of long bones

An abnormal anterior curvature of a long bone.


Pappenheimer bodies

A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain).


Seminal vesicle cyst

A cyst (sac-like mass that may contain serous liquid or semisolid material) caused by distention of the seminal vesicle due to atresia of the ejaculatory duct.


Sensory seeking

Unusual interest in sensory aspects of the environment.


Calf muscle hypoplasia

Underdevelopment of the muscuklature of the calf.


Bullet-shaped distal phalanx of the 2nd finger

Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected.


Aplasia of the olfactory tract

Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell.


testicular gonadoblastoma

A testicular mixed germ cell-sex cord-stromal tumor. It is usually associated with mixed gonadal dysgenesis and ambiguous genitalia. It is characterized by the presence of nests of large neoplastic germ cells and immature cells that resemble Sertoli cells.


vesicoureteral reflux

Abnormal flow of urine from the urinary bladder back into the ureters.


ureter neoplasm

A benign or malignant neoplasm that affects the ureter.


Arcuate artery endoarterial neutrophil hypercellularity

A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils withinin the lumen of arcuate artery.


Emotional hypersensitivity

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


Insect bite allergy

Hypersensitivity in form of an adverse immune reaction against insect bites.


Uterine cervix myxoma

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


Elevated urinary dihydrouracil level

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


Permanent atrial fibrillation

Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent.


Anti-phospholipase A2 receptor antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the phospholipase A2 receptor.


Oral cavity bleeding

Recurrent or excessive bleeding from the mouth.


Elevated circulating thymine concentration

Concentration of the nucleobase thymine in the blood circulation above the normal range.


Increased proportion of transitional B cells

An elevation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.


J wave

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


Distal clavicular thinning

Abnormally reduced diameter (cross section) of the clavicles that is limited to the distal region.


Focal aware hemifacial clonic seizure

Focal seizure characterized at onset by clonic movements affecting half of the face with retained awareness throughout.


Polymorphic focal epileptiform discharges

Focal epileptiform discharges of different shapes and frequencies.


Increased level of hippuric acid in blood

An increase in the level of hippuric acid in the blood.


Deep longitudinal plantar crease

Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot.


Abnormal vertebral artery morphology

An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system.


Onychotillomania

Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails.


Antimitochondrial antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria.


Dumbbell-shaped humerus

The humerus is shortened and displays flaring (widening) of the metaphyses.


Fragmentation of the epiphysis of the middle phalanx of the 3rd finger

Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger.


Aplasia/Hypoplasia of the 2nd metacarpal

Aplasia or Hypoplasia affecting the 2nd metacarpal.


Abnormal circulating apolipoprotein concentration

A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation.


Reticulonodular pattern on pulmonary HRCT

Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography.


Anti-NMDA receptor antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor.


Recurrent encephalopathy

Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections.


Abnormal renal medulla morphology

Any structural abnormality of the medulla of the kidney.


Functional abnormality of male internal genitalia


Recurrent parasitic infections

Increased susceptibility to parasitic infections, as manifested by recurrent episodes of parasitic infection.


Decreased CSF/serum albumin ratio

A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.


Struvite nephrolithiasis

Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones).


Elevated urine aconitic acid level

An abnormally increased level of aconitic acid in the urine.


Thick hair

Increased density of hairs, i.e., and elevated number of hairs per unit area.


Glossoptosis

Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.


Abnormal number of dense granules

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