Porphyrinuria

description: Abnormally increased excretion of porphyrins in the urine.


Aplasia/Hypoplasia of the bladder

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

description: Absence or underdevelopment of the urinary bladder.


Aplasia of the bladder

description: Aplasia (absence) of the urinary bladder.


Abnormality of the urachus

description: Abnormality of the urachus.


Urethral fistula

description: The presence of an abnormal connection between the urethra and another organ or the skin.


Urethral valve

description: The presence of an abnormal membrane obstructing the urethra.


Acromelia of the upper limbs

description: Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments.


Amniotic constriction rings of arms

description: Amniotic constriction rings affecting the arms.


Hypertrophy of the upper limb

description: Abnormal increase in size of the upper limbs (due to an increase of the size of cells).


Hyperextensibility at elbow

description: The ability of the elbow joint to move beyond its normal range of motion.


Abnormality of the hypothenar eminence

description: An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger).


Small hypothenar eminence

description: Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence.


name: Aplasia/Hypoplasia of the palmar creases

description: Absence or underdevelopment of the palmar creases.


Absent palmar crease

description: The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease).


Abnormality of the palmar creases

description: An abnormality of the creases of the skin of palm of hand.


Digital constriction ring

description: A narrow segment of significantly reduced circumference of a digit.


Osseous finger syndactyly

description: Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism".


Long metacarpals

description: An abnormally increased length of the metacarpal bones.


Acromelia of the lower limbs

description: Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments.


Amniotic constriction rings of legs

description: Amniotic constriction rings affecting the legs.


Hypertrophy of the lower limb

description: Abnormal increase in size of the lower limbs (due to an increase of the size of cells).


Bipartite patella

description: A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood.


Patellar subluxation

description: The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella.


Hyperextensibility of the knee

description: The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh).


Limitation of knee mobility

description: An abnormal limitation of knee joint mobility.


Fibular bowing

description: A bending or abnormal curvature of the fibula.


Fibular duplication

description: Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition.


Increased length of the tibia

description: An abnormal increase in the length of the tibia.


Limitation of movement at ankles

description: An abnormal limitation of the mobility of the ankle joint.


Abnormal plantar dermatoglyphics

description: An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot.


Foot asymmetry

description: A difference in size or shape between the left and right foot.


Metatarsus valgus

description: A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight.


Aplasia of the tarsal bones

description: Absence of the tarsal bones.


Hypermobility of toe joints

description: An ability of the toe joints to move beyond their normal range of motion.


Long toe

description: Toes that appear disproportionately long compared to the foot.


Adrenal calcification

description: Calcification within the adrenal glands.


Pituitary calcification

description: Deposition of calcium salts in the pituitary gland.


Aplasia/Hypoplasia of the thymus

description: Absence or underdevelopment of the thymus.


Thymus hyperplasia

description: Enlargement of the thymus.


Ectopic thymus tissue

description: 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.


Increased fetal movement

description: An abnormal increase in quantity or strength of fetal movements.


Disturbed sensory perception

description: Alteration or impairment in the processing or interpretation of sensory information can lead to abnormal perceptions or experiences.


Finger agnosia

description: The examiner identified the inability to name, move, or touch specific fingers.


Astereognosis

description: Tactile agnosia refers to the inability to recognize objects by touch, while the inability to discriminate shape and size by touch is also a related condition.


Palatal tremor

description: Palatal tremor (PT) is an involuntary, rhythmic and oscillatory movement of the soft palate. PT is a rare type of tremor involving the soft palate. It can be unilateral or bilateral.


Spinal myoclonus

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


Paroxysmal vertigo

description: Paroxysmal episodes of vertigo.


Wide cranial sutures

description: An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure).


Small sella turcica

description: An abnormally small sella turcica.


Thin calvarium

description: The presence of an abnormally thin calvarium.


name: Advanced pneumatization of cranial sinuses

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


Vestibular nystagmus

description: Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components.


Opsoclonus

description: Bursts of large-amplitude multidirectional saccades without intersaccadic interval


Vertical nystagmus

description: Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus.


Downbeat nystagmus

description: Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone.


Muscle fibrillation

description: Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG.


Muscle flaccidity

description: A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation.


Percussion myotonia

description: A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object).


name: Weakness due to upper motor neuron dysfunction

description: Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons.


Paraplegia/paraparesis

description: Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength.


Oculogyric crisis

description: An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications.


Cutaneous finger syndactyly

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


Overlapping fingers

description: A finger resting on the dorsal surface of an adjacent digit when the hand is at rest.


Abnormality of the clivus

description: An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum.


Vertical clivus

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


Undulate clavicles

description: An abnormally wavy surface or edge of the clavicles.


Undulate ribs

description: An abnormally wavy surface or edge of the ribs.


Bifid epiglottis

description: A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation.


Aplasia/Hypoplasia of the Epiglottis

description: This term applies if the Epiglottis is absent or hypoplastic.


Y-shaped metatarsals

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


Hamartoma of the eye

description: A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye.


name: Elevated circulating 7-dehydrocholesterol concentration

description: Concentration of 7-dehydrocholesterol in the blood circulation above the upper limit of normal.


name: Low maternal circulating alpha-fetoprotein concentration

description: An abnormally low concentration of serum alpha-fetoprotein as compared to normal values for gestational-age.


name: Elevated circulating phytanic acid concentration

description: An abnormal elevation of phytanic acid.


name: Abnormality of the epiphysis of the femoral head

description: Any abnormality of the proximal epiphysis of the femur.


Dysplasia of the femoral head

description: The presence of developmental dysplasia of the femoral head.


Intracranial cystic lesion

description: A cystic lesion originating within the brain.


Cone-shaped epiphysis

description: Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.


Enlarged epiphyses

description: Increased size of epiphyses.


Irregular epiphyses

description: An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.


Ivory epiphyses

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


Small epiphyses

description: Reduction in the size or volume of epiphyses.


Triangular epiphysis

description: Longitudinal epiphyseal bracket or bracket epiphysis is an uncommon disorder of growth. Alternatively known as a delta phalanx, it is due to an anomalous secondary ossification center that extends longitudinally along the diaphysis. Although rare, longitudinal epiphyseal bracket most commonly manifests in the hands as clinodactyly and in the feet as hallux varus.


Premature epimetaphyseal fusion

description: Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.


name: Abnormality of the distal femoral epiphysis

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


name: Abnormality of the proximal tibial epiphysis

description: Any abnormality of the proximal epiphysis of the tibia.


name: Abnormality of the distal tibial epiphysis


name: Abnormality of the proximal fibular epiphysis

description: Any abnormality of the proximal epiphysis of the fibula.


name: Abnormality of the distal fibular epiphysis

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


name: Abnormality of the proximal radial epiphysis

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


name: Abnormality of the distal radial epiphysis

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


name: Abnormality of the proximal humeral epiphysis

description: Any abnormality of the proximal epiphysis of the humerus.


name: Abnormality of the distal humeral epiphysis

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


name: Abnormal distal ulnar epiphysis morphology

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


name: Abnormal proximal ulnar epiphysis morphology

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


Type 2 muscle fiber predominance

description: An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy).


Cyst of the eyelid

description: Localized swelling of the eyelid due to blockage of the meibomian glands, usually caused by inflammation.


Plantar pits

description: The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot.


Angiofibromas

description: Angiofibroma consist of many often dilated vessels.


Cardiac fibroma

description: A fibroma of the heart.


Malar prominence

description: Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face.


Cutaneous syndactyly of toes

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


Aplastic/hypoplastic toenail

description: Absence or underdevelopment of the toenail.


Anterior pituitary dysgenesis

description: Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis.


Anterior pituitary agenesis

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


name: Abnormal morphology of the cortex of the humerus

description: Any abnormality affecting the cortex of the humerus.


name: Abnormal metatarsal epiphysis morphology

description: Any abnormality of a metatarsal bone epiphysis.


name: Abnormality of the epiphyses of the feet

description: Any abnormality of the epiphyses of the feet.


Total anosmia

description: Inability to detect any qualitative olfactory sensation.


Partial anosmia

description: Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).


Total hyposmia

description: Reduced ability to detect any qualitative olfactory sensation.


Partial hyposmia

description: Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).


Conjunctival amyloidosis

description: A form of amyloidosis that affects the conjunctiva.


name: Elevated alkaline phosphatase of hepatic origin

description: An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.


name: Elevated alkaline phosphatase of bone origin

description: An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.


Abnormal nasal cavity morphology

description: Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures).


Abnormality of the midnasal cavity

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


Midnasal atresia

description: Absence or abnormal closure of the midnasal cavity.


Midnasal stenosis

description: Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress.


name: Aplasia of the distal phalanges of the toes

description: Absence of the distal phalanges of the toes.


Cervical spine instability

description: An abnormal lack of stability of the cervical spine.


Abnormal elasticity of skin

description: Any abnormal increase or reduction in skin elasticity.


Dermal translucency

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


Flat nasal alae

description: An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae).


Hypoplasia of the premaxilla

description: An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures.


Abnormal meningeal morphology

description: An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater.


Abnormal dura mater morphology

description: An abnormality of the Dura mater.


Abnormality of the falx cerebri

description: An abnormality of the Falx cerebri.


Aplasia of the falx cerebri

description: A developmental defect characterized by aplasia of the Falx cerebri.


Abnormal epiphyseal ossification

description: An abnormality of the formation and mineralization of an epiphysis.


name: Patchy reduction of bone mineral density

description: Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.


Patchy changes of bone mineral density

description: Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density).


name: Patchy variation in bone mineral density

description: Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays.


Abnormal hand bone ossification

description: An abnormality of the formation and mineralization of any bone of the skeleton of hand.


Absence of the third cerebral ventricle

description: A developmental defect characterized by the absence of the third ventricle.


Abnormality of the diencephalon

description: An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain.


Abnormal thalamus morphology

description: An abnormality of the thalamus.


Fusion of the left and right thalami

description: A developmental defect characterized by fusion of the left and right halves of the thalamus.


Bilateral coxa valga

description: The presence of bilateral coxa valga.


Hypoplasia of the anterior nasal spine

description: Underdevelopment of the anterior nasal spine of maxilla.


Aplasia of the maxilla

description: A congenital defect characterized by absence of the Maxilla.


Abnormal zygomatic bone morphology

description: An abnormality of the zygomatic bone.


Hypoplasia of the zygomatic bone

description: Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch.


name: Abnormality of the third metatarsal bone

description: An abnormality of the third metatarsal bone.


name: Abnormal curvature of the vertebral column

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


Abnormal foot bone ossification

description: An abnormality of the formation and mineralization of any bone of the skeleton of foot.


Enuresis diurna

description: Enuresis occurring during waking hours of the day.


name: Elevated tissue non-specific alkaline phosphatase

description: An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.


name: Elevated alkaline phosphatase of renal origin

description: An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.


name: Elevated intestinal alkaline phosphatase

description: An abnormally increased level of alkaline phosphatase, intestinal type in the blood.


Elevated placental alkaline phosphatase

description: An abnormally increased level of alkaline phosphatase, placental type in the blood.


name: Low tissue non-specific alkaline phosphatase

description: An abnormally reduced level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.


Low alkaline phosphatase of bone origin

description: An abnormally reduced level of bone isoforms of alkaline phosphatase in the blood.


name: Low alkaline phosphatase of renal origin

description: An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood.


name: Low alkaline phosphatase of hepatic origin

description: An abnormally reduced level of liver isoforms of alkaline phosphatase in the blood.


Low intestinal alkaline phosphatase

description: An abnormally reduced level of alkaline phosphatase, intestinal type in the blood.


Low placental alkaline phosphatase

description: An abnormally reduced level of alkaline phosphatase, placental type in the blood.


Mirror image hand polydactyly

description: Mirror image duplication of digits affecting the hands only.


Mirror image foot polydactyly

description: Mirror image duplication of digits affecting the feet.


2-5 finger syndactyly

description: Syndactyly with fusion of fingers two to five.


Lamellar pulverulent cataract

description: A Lamellar cataract with a pulverulent (punctate, "dust-like" opacities) appearance.


Sutural cataract

description: A type of congenital cataract in which the opacity follows the anterior or posterior Y suture.


Polar cataract

description: A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens.


Anterior pyramidal cataract

description: A type of anterior polar cataract which projects as a conical opacity into the anterior chamber.


Triangular nuclear cataract

description: A nuclear cataract with a triangular form.


Abnormal immunoglobulin level

description: An abnormal deviation from normal levels of immunoglobulins in blood.


Increased circulating antibody level

description: An increased level of gamma globulin (immunoglobulin) in the blood.


1-2 finger syndactyly

description: Syndactyly with fusion of fingers one and two.


4-5 finger syndactyly

description: Syndactyly with fusion of fingers four and five.


1-3 finger syndactyly

description: Syndactyly with fusion of fingers one to three.


1-4 finger syndactyly

description: Syndactyly with fusion of fingers one to four.


1-5 finger syndactyly

description: Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand).


2-4 finger syndactyly

description: Syndactyly with fusion of the fingers two to four.


3-5 finger syndactyly

description: Syndactyly with fusion of fingers three to five.


1-2 toe syndactyly

description: Syndactyly with fusion of toes one and two.


1-4 toe syndactyly

description: Syndactyly with fusion of toes one to four.


1-5 toe syndactyly

description: Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot).


2-4 toe syndactyly

description: Syndactyly with fusion of toes two to four.


2-5 toe syndactyly

description: Syndactyly with fusion of toes two to five.


3-5 toe syndactyly

description: Syndactyly with fusion of toes three to five.


Osseous syndactyly of toes

description: Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".


Abnormality of hair texture

description: An abnormality of the texture of the hair.


Abnormal hair pattern

description: An abnormality of the distribution of hair growth.


Abnormal hair whorl

description: An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair).


Asymmetry of the ears

description: An asymmetriy, i.e., difference in size, shape or position between the left and right ear.


name: Advanced pneumatization of the mastoid process

description: An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms.


Prominent corneal nerve fibers

description: Abnormal prominence of the corneal nerve fibers.


Spontaneous rupture of the globe

description: Rupture of the eyeball not due to trauma.


Aplasia of the retina

description: A developmental defect characterized by absence of the retina.


Cherry red spot of the macula

description: Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula.


Double eyebrow

description: This may present as a partial or complete duplication of the eyebrows.


name: Extension of eyebrows towards upper eyelid

description: The eyebrows extend towards - or even all the way down to - the margin of the upper eyelid.


Nodular changes affecting the eyelids

description: Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more.


Naevus flammeus of the eyelid

description: Naevus flammeus localized in the skin of the eyelid.


Osteopathia striata

description: A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance.


Pedal edema

description: An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.


Edema of the upper limbs

description: An abnormal accumulation of fluid beneath the skin of the arms.


Short metatarsal

description: Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.


Absent metatarsal bone

description: A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone.


Aplasia of the phalanges of the toes

description: Absence of a digit or of one or more phalanges of a toe.


Medial flaring of the eyebrow

description: An abnormal distribution of eyebrow hair growth in the medial direction.


Ectopic lacrimal punctum

description: Positioning of a lacrimal punctum other than at the medial margins of the eyelid.


Dermatochalasis

description: Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge.


Dimple chin

description: A persistent midline depression of the skin over the fat pad of the chin.


Cleft mandible

description: Midline deficiency of the mandible and some or all overlying tissues.


name: Abnormality of the temporomandibular joint

description: An anomaly of the temporomandibular joint.


Asymmetry of the maxilla

description: Asymmetry between the left and right sides of the maxilla.


Aplasia/Hypoplasia of the premaxilla

description: Absence or underdevelopment of the premaxilla.


Aplasia of the premaxilla

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


Abnormality of the premaxilla

description: An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate.


Prominence of the premaxilla

description: Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla.


Absent toe

description: Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues.


Broad columella

description: Increased width of the columella.


Low insertion of columella

description: Insertion of the posterior columella below the nasal base.


Short eyelashes

description: Decreased length of the eyelashes (subjective).


Palmar hyperkeratosis

description: Abnormal thickening of the skin localized to the palm of the hand.


Ectopic calcification

description: Deposition of calcium salts in a tissue or location in which calcification does not normally occur.


Sacrococcygeal pilonidal abnormality

description: The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds.


Pilonidal abscess

description: A hair-containing cyst or sinus usually in the coccygeal region.


Anomalous pulmonary venous return

description: A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood.


Vascular ring

description: A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails.


Tracheobronchmegaly

description: Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection.


Bronchomegaly

description: Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection.


Tracheomegaly

description: Marked widening of the trachea.


Large pelvis bone

description: The presence of an abnormally large pelvis.


Skin dimple

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


Erythema

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


Gonadal neoplasm

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


Genital neoplasm

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


Hyperplasia of the Leydig cells

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


Bifid nail

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


name: Impaired visuospatial constructive cognition

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


Cerebellar glioma

description: A glioma affecting the cerebellum.


Lip freckle

description: Increased focal pigmentation of the vermilion of the lips.


Absent cupid's bow

description: Lack of paramedian peaks and median notch of the upper lip vermilion.


Underdeveloped nasolabial fold

description: Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure).


Perioral hyperpigmentation

description: Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips.


Everted upper lip vermilion

description: Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip.


Tented upper lip vermilion

description: Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.


Upturned corners of mouth

description: Oral commissures positioned superior to the midline labial fissure.


U-Shaped upper lip vermilion

description: Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures.


Open bite

description: Visible space between the dental arches in occlusion.


Protruding tongue

description: Tongue extending beyond the alveolar ridges or teeth at rest.


Broad uvula

description: Increased width of the uvula (subjective finding).


Long uvula

description: Increased length of the uvula.


Narrow uvula

description: Decreased width of the uvula.


Short uvula

description: Decreased length of the uvula.


Abnormal number of hair whorls

description: More than two clockwise hair whorls.


Abnormal position of hair whorl

description: Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull.


Linear nevus sebaceous

description: A type of nevus sebaceous with a linear form, raised borders and yellowish color.


Generalized tonic seizure

description: A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.


Atonic seizure

description: Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.


Focal emotional seizure with crying

description: Focal emotional seizure with crying (dacrystic) is characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present.


Focal emotional seizure with laughing

description: 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'.


Scintillating scotoma

description: A scintillating scotoma is a common visual aura that can preced a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights.


Ridged cranial sutures

description: An overlap of the bony plates of the skull in an infant, with or without early closure.


Abnormal fifth cranial nerve morphology

description: Any structural abnormality of the fifth cranial nerve.


description: Abnormality of the eleventh cranial nerve.


description: Abnormality of the twelfth cranial nerve.


Abnormal seventh cranial physiology

description: Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve.


Hemifacial spasm

description: Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions.


Impaired temperature sensation

description: A reduced ability to discriminate between different temperatures.


Impaired tactile sensation

description: A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.


Impaired proprioception

description: A loss or impairment of the sensation of the relative position of parts of the body and joint position.


Abnormality of pain sensation

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


Spontaneous pain sensation

description: Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger.


Trophic changes related to pain

description: Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails.


Dissociated sensory loss

description: A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa.


name: Abnormal circulating copper concentration

description: An abnormal concentration of copper.


name: Decreased circulating ceruloplasmin concentration

description: Decreased concentration of ceruloplasmin in the blood.


name: High nonceruloplasmin-bound serum copper

description: An increased concentration of non ceruloplasmin bound copper in the blood.


Increased urinary copper concentration

description: An increased concentration of copper in the urine.


Multifocal epileptiform discharges

description: An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci).


EEG with focal slow activity

description: Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy).


EEG with multifocal slow activity

description: Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


EEG with generalized slow activity

description: Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


name: EEG with persistent abnormal rhythmic activity


EEG with spike-wave complexes (<2.5 Hz)

description: The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG).


name: EEG with spike-wave complexes (2.5-3.5 Hz)

description: The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG).


EEG with spike-wave complexes (>3.5 Hz)

description: The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG).


EEG with spike-wave complexes

description: Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


EEG with burst suppression

description: The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes.


EEG with photoparoxysmal response

description: EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns.


name: EEG with periodic lateralized epileptiform discharges

description: Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds).


name: EEG with generalized low amplitude activity

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


name: EEG with localized low amplitude activity

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


EEG with periodic complexes

description: Periodically occurring generalized periodic complexes.


EEG with periodic abnormalities

description: Periodically recurring abnormalities in the EEG.


name: EEG with hyperventilation-induced epileptiform discharges

description: Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


Frank breech presentation

description: A kind of breech presentation in which the hips are flexed and the knees are extended.


Complete breech presentation

description: A kind of breech presentation in which the hips are flexed and the knees are flexed.


Incomplete breech presentation

description: A kind of breech presentation in which one or both hips are extended and one or both of the fetus' feet are pointing down and entering the birth canal.


Delayed fine motor development

description: A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands.


Receptive language delay

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


Intellectual disability, severe

description: Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.


Abdominal wall defect

description: An incomplete closure of the abdominal wall.


Dyssynergia

description: A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts.


Ocular dyssynergia

description: A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field.


Asynergia

description: A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed.


Sensory ataxia

description: Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms.


T-wave inversion

description: An inversion of the T-wave (which is normally positive).


Cervical spinal cord atrophy

description: Atrophy of the cervical segment of the spinal cord.


Tendon xanthomatosis

description: The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows).


Chaddock reflex

description: A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract.


name: Abnormal circulating protein concentration

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


Monocular strabismus

description: A type of strabismus in which the fixating eye is always the same one, while the other eye is constantly deviated. Monocular strabismus is to be distinguished from alternating strabismus, in which either of the eyes 'squints' at different times.


Fetal cystic hygroma

description: The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm. Increased NT refers to a measurement above the 95th centile, and the term is used irrespective of whether the collection of fluid is septated or not, and whether it is confined to the neck or envelopes the whole fetus. After 14 weeks, increased NT usually resolves, but in some cases it evolves into nuchal edema or cystic hygromas.


Increased nuchal translucency

description: Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy).


Abnormality of the umbilical cord

description: An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta.


Pulmonary valve atresia

description: A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop.


Acromelia

description: Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs.


Morbus Koehler

description: Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis.


Morbus Kienboeck

description: Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum.


name: Abnormal circulating branched chain amino acid concentration

description: Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation.


name: Abnormal circulating phenylalanine concentration

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


name: Abnormal circulating serine family amino acid concentration

description: Any deviation from the normal concentration of a serine family amino acid in the blood circulation.


name: Abnormal circulating glycine concentration

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


Hypersarcosinuria

description: An elevated urinary concentration of sarcosine.


name: Abnormal circulating sarcosine concentration

description: An deviation from the normal concentration of sarcosine in the blood circulation.


name: Abnormal circulating aspartate family amino acid concentration

description: Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation.


name: Abnormal circulating threonine concentration

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


name: Abnormal circulating methionine concentration

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


name: Abnormal circulating glutamine family amino acid concentration

description: Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation.


name: Abnormal circulating glutamine concentration

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


name: Abnormal circulating histidine concentration

description: An abnormality of a histidine metabolic process.


name: Abnormal circulating proline concentration

description: Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation.


name: Abnormal circulating lysine concentration

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


name: Abnormal circulating arginine concentration

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


Hyperleucinemia

description: An increased concentration of leucine in the blood.


name: Abnormal circulating isoleucine concentration

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


Hyperisoleucinemia

description: An increased concentration of isoleucine in the blood.


name: Abnormal circulating valine concentration

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


name: Abnormal circulating pyruvate family amino acid concentration

description: An abnormality of a pyruvate family amino acid metabolic process.


name: Abnormal circulating alanine concentration

description: An abnormality of an alanine metabolic process.


name: Abnormal circulating tyrosine concentration

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


name: Abnormal circulating cysteine concentration

description: An abnormality of a cysteine metabolic process.


name: Abnormal circulating homocysteine concentration

description: An abnormality of a homocysteine metabolic process.


Coralliform cataract

description: A 'coral-like' pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form.


Membranous cataract

description: A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens.


Anterior subcapsular cataract

description: A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule.


Posterior cortical cataract

description: A cataract that affects the posterior part of the cortex of the lens.


name: Abnormal blood inorganic cation concentration

description: An abnormality of divalent inorganic cation homeostasis.


Abnormal blood cation concentration

description: An abnormality of cation homeostasis.


name: Abnormal blood monovalent inorganic cation concentration

description: An abnormality of monovalent inorganic cation homeostasis.


Abnormal blood sodium concentration

description: An abnormal concentration of sodium.


name: Abnormal circulating nucleobase concentration

description: An abnormality of a nucleobase metabolic process.


Hyperxanthinemia

description: An increased level of xanthine in the blood circulation.


Abnormality of the upper urinary tract

description: An abnormality of the upper urinary tract.


Abnormality of the lower urinary tract

description: An abnormality of the lower urinary tract.


Abnormal nasal skeleton morphology

description: An abnormality of the nasal skeleton.


Abnormal external nose morphology

description: An abnormality of the external nose.


Abnormal nasal bone morphology

description: An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone.


Aplasia/Hypoplasia of the nasal bone

description: Absence or underdevelopment of the nasal bone.


Echogenic intracardiac focus

description: A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart.


Echogenic fetal bowel

description: Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone.


Abnormal renal pelvis morphology

description: An abnormality of the renal pelvis.


Fetal pyelectasis

description: Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement.


Dilatation of the renal pelvis

description: The presence of dilatation of the renal pelvis.


name: Abnormality of ductus venosus blood flow

description: A first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus.


name: Abnormal fetal cardiovascular morphology

description: A structural abnormality of the fetal circulation system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.


name: Abnormality of umbilical vein blood flow

description: A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein.


Abnormal fourth ventricle morphology

description: An abnormality of the fourth ventricle.


Abnormal third ventricle morphology

description: An abnormality of the third ventricle.


Mild fetal ventriculomegaly

description: A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637).


Dilatation of the bladder

description: The presence of a dilated urinary bladder.


Fetal megacystis

description: Fetal megacystis is an abnormally enlarged bladder identified at any gestational age.


name: Absence of stomach bubble on fetal sonography

description: By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation.


name: Abnormal circulating long-chain fatty-acid concentration

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


name: Abnormal circulating phytanic acid concentration

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


name: Abnormal circulating fatty-acid anion concentration

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


name: Abnormal circulating carnitine concentration

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


name: Abnormality of liposaccharide metabolism

description: An abnormality of liposaccharide metabolism.


Abnormality of glycolipid metabolism

description: An abnormality of glycolipid metabolism.


Blood group antigen abnormality

description: An abnormality of an erythrocyte cell surface molecule.


name: Absence of Lutheran antigen on erythrocytes

description: Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells.


Anemia of inadequate production

description: A kind of anemia characterized by inadequate production of erythrocytes.


Abnormal myeloid leukocyte morphology

description: An abnormality of myeloid leukocytes.


Abnormal B cell count

description: A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells.


B lymphocytopenia

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


Abnormal phagocytosis

description: An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation.


Abnormality of immune system physiology

description: A functional abnormality of the immune system.


name: Abnormality of lipoprotein cholesterol concentration

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


name: Abnormal cellular immune system morphology

description: An abnormality of the morphology or counts of the cells that make up the immune system.


Abnormality of the extrinsic pathway

description: An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade.


Abnormality of the intrinsic pathway

description: An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade.


name: Abnormality of the common coagulation pathway

description: An abnormality of blood coagulation, common pathway.


name: Abnormal morphology of the abdominal musculature

description: An abnormality of the abdominal musculature.


Stress urinary incontinence

description: Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing.


Abnormal cerebral subcortex morphology

description: An abnormality of the cerebral subcortex.


Abnormal corpus striatum morphology

description: Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens.


name: Abnormal circulating dicarboxylic acid concentration

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


name: Abnormal circulating monocarboxylic acid concentration

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


name: Chromosomal breakage induced by ionizing radiation

description: Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation.


name: Increased susceptibility to spontaneous sister chromatid exchange

description: An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells.


High myopia

description: A severe form of myopia with greater than -6.00 diopters.


Abnormal systemic arterial morphology

description: An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries.


Mixed cirrhosis

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


name: Abnormal morphology of the musculature of the neck

description: An abnormality of the neck musculature.


name: Abnormal circulating polysaccharide concentration

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


name: Abnormal circulating carbohydrate concentration

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


Abnormal glucose homeostasis

description: Abnormality of glucose homeostasis.


Abnormal blood glucose concentration

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


Abnormal cellular physiology

description: An abnormality in a cellular process.


Abnormality of the cell cycle

description: An abnormality of the cell cycle.


Abnormality of chromosome condensation

description: An abnormality of chromosome condensation.


name: Abnormality of mucopolysaccharide metabolism

description: An abnormality of the metabolism of mucopolysaccharide.


name: Abnormal circulating enzyme concentration

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


name: Abnormal circulating unsaturated fatty acid concentration

description: A deviation from the normal concentration of an unsaturated fatty acid in the blood circulation.


name: Abnormal circulating prostaglandin circulation

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


name: Abnormal cardiovascular system physiology

description: Abnormal functionality of the cardiovascular system.


Aplasia/Hypoplasia of the vagina

description: Aplasia or developmental hypoplasia of the vagina.


Abnormal fallopian tube morphology

description: An abnormality of the fallopian tube.


Abnormality of blood circulation

description: An abnormality of blood circulation.


Internal hemorrhage

description: The presence of hemorrhage within the body.


name: Abnormal blood transition element cation concentration

description: An abnormality of the homeostasis (concentration) of transition element cation.


Abnormality of iron homeostasis

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


Abnormality of fluid regulation

description: An abnormality of the regulation of body fluids.


Impairment of fructose metabolism

description: An impairment of a fructose metabolic process.


Abnormal renal cortex morphology

description: An abnormality of the cortex of the kidney.


Abnormality of renal excretion

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


Decreased urine output

description: A decreased rate of urine production.


Abnormal renal tubular resorption

description: An abnormality of renal absorption.


Abnormal helix morphology

description: An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe.


name: Abnormal intrahepatic bile duct morphology

description: An abnormality of the intrahepatic bile duct.


name: Aplasia/Hypoplasia of the cervical spine

description: Aplasia or developmental hypoplasia of the cervical vertebral column.


Abnormal blood potassium concentration

description: An abnormal concentration of potassium.


name: Abnormal circulating adrenocorticotropin concentration

description: An abnormal concentration of corticotropin in the blood.


Abnormal number of permanent teeth

description: The presence of an altered number of of permanent teeth.


name: Agenesis of permanent maxillary central incisor

description: Agenesis of upper secondary incisor.


name: Agenesis of primary maxillary central incisor

description: Agenesis of upper central primary incisor.


name: Agenesis of primary mandibular central incisor

description: Agenesis of lower primary incisor.


name: Agenesis of permanent mandibular central incisor

description: Agenesis of lower secondary incisor.


name: Agenesis of primary maxillary lateral incisor

description: Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor.


name: Agenesis of permanent maxillary lateral incisor

description: Agenesis of one or more upper lateral secondary incisor.


Agenesis of premolar

description: Agenesis of premolar tooth.


Agenesis of maxillary premolar

description: Agenesis of maxillary premolar.


Agenesis of mandibular premolar

description: Agenesis of mandibular premolar.


Agenesis of molar

description: Agenesis of molar tooth.


Agenesis of permanent molar

description: Agenesis of secondary molar tooth.


Agenesis of first permanent molar tooth

description: Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both.


Agenesis of second permanent molar

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


Generalized periodontitis

description: A generalized form of periodontitis.


Localized periodontitis

description: A localized form of periodontitis.


Abnormality of dental structure

description: An abnormality of the structure or composition of the teeth.


Misalignment of incisors

description: Misaligned incisor.


Abnormal incisor morphology

description: An abnormality of morphology of the incisor tooth.


Abnormal number of incisors

description: The presence of an altered number of the incisor teeth.


Conical incisor

description: An abnormal conical morphology of the incisor tooth.


Mesiodens

description: A supernumerary tooth in the midline between the maxillary central incisors.


Abnormal molar morphology

description: An abnormality of morphology of molar tooth.


Abnormal permanent molar morphology

description: An abnormality of morphology of permanent molar.


Abnormality of dental color

description: A developmental defect of tooth color.


Localized hypoplasia of dental enamel

description: A localized form of developmental hypoplasia of the dental enamel.


Green teeth

description: A green staining of teeth.


Abnormality of premolar

description: An abnormality of premolar tooth.


Abnormality of molar

description: An abnormality of molar tooth.


Abnormality of canine

description: An abnormality of canine tooth.


Impacted tooth

description: A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth).


Abnormal premolar morphology

description: An abnormality of morphology of premolar tooth.


Incisor macrodontia

description: Increased size of the incisor tooth.


Conical primary incisor

description: An abnormal conical morphology of the primary incisor.


Conical maxillary incisor

description: An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both.


Hypocalcification of dental enamel

description: A form of hypomineralization of enamel characterized by reduced calcification.


Hypomature dental enamel

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


name: Dentinogenesis imperfecta of primary and permanent teeth

description: Developmental dysplasia of dentin or both the primary dentition and the permanent dentition.


Dens in dente

description: An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth.


Gemination

description: The development of two teeth from a single tooth bud, leading to a larger fused tooth.


Mulberry molar

description: Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry.


Molarization of premolar

description: Increased size and molar morphology of premolar tooth.


Increased overbite

description: Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm.


Overjet

description: An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure.


Peripheral demyelination

description: A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.


Speech apraxia

description: A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.


Ileal atresia

description: An abnormal closure, or atresia of the tubular structure of the ileum.


name: Abnormal left ventricular outflow tract morphology

description: An abnormality of the outflow tract of the left ventricle.


Abnormality of blood volume homeostasis

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


Hypervolemia

description: An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood.


Hypovolemia

description: An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood.


Recurrent sinusitis

description: A recurrent form of sinusitis.


name: Abnormal immune serum protein physiology

description: An abnormality of the concentration or function of circulating immune proteins.


name: Abnormal circulating cytokine concentration

description: Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells.


Abnormality of cytokine secretion

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


name: Defective production of NFKB1-dependent cytokines

description: An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha.


name: Abnormal circulating chemokine concentration

description: An abnormality in the production or cellular release of a chemokine (a class of cytokines).


name: Abnormal circulating interferon concentration

description: The concentration of an interferon is outside the limits of normal.


name: Abnormal circulating interleukin concentration

description: The concentration of an interleukin (a class of cytokines) is outside the limits of normal.


name: Abnormality of tumor necrosis factor secretion

description: An abnormality in the production or cellular release of tumor necrosis factor.


Abnormal nasal dorsum morphology

description: An abnormality of the nasal dorsum, also known as the nasal ridge.


Concave nasal ridge

description: Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip.


Abnormal skin morphology

description: Any morphological abnormality of the skin.


Abnormality of skin physiology

description: Any abnormality of the physiological function of the skin.


Abnormal epidermal morphology

description: An abnormality of the morphology of the epidermis.


Abnormality of dermal melanosomes

description: An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis).


Nephroptosis

description: A significant descent of the kidney as the patient moves from the supine to the erect position.


Perioral eczema

description: A type of eczema that occurs in the lips and perioral area.


Acute esophageal necrosis

description: A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion ('black esophagus') distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction.


Bilateral fetal pyelectasis

description: A bilateral form of fetal pyelectasis.


Abnormal renal calyx morphology

description: Any abnormality of the morphology of the major calices or minor calices of the kidney.


Perianal dermatitis

description: The presence of a rash (change of color and texture) of the perianal skin.


Chronic furunculosis

description: A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection.


name: Increased sensitivity to ionizing radiation

description: An abnormally increased sensitivity to the effects of ionizing radiation.


Low-grade fever

description: Mild fever that does not exceed 38.5 degrees centigrade.


Aplasia/Hypoplasia of the sweat glands

description: Absence or developmental hypoplasia of the sweat glands.


Aplasia of the sweat glands

description: Absence of the sweat glands.


Non-pruritic urticaria

description: Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus.


Abnormal skin adnexa morphology

description: An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.


Gastric duplication

description: Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach.


Gastrointestinal duplication

description: A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus.


Age-related cortical cataract

description: A type of age-related cataract that primarily affects the cortex of the lens.


name: Age-related posterior subcapsular cataract

description: A type of age-related cataract consisting of granular opacities occurring mainly in the central posterior cortex just under the posterior capsule.


Symptomatic seizures

description: A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed.


Dialeptic seizure

description: A dialeptic seizure is a type of seizure characterized predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event.


Typical absence seizure

description: A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event.


Absence seizure with eyelid myoclonia

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


Myoclonic absence seizure

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


Atypical absence status epilepticus

description: Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure.


Early onset absence seizures

description: Typical absence seizures starting before the age of 4 years.


Focal autonomic seizure

description: An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature.


Focal sensory seizure

description: A focal sensory seizure is a type seizure beginning with a subjective sensation.


name: Focal sensory seizure with auditory features

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


name: Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena

description: A type of focal autonomic seizure characterized by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature.


name: Focal sensory seizure with gustatory features

description: A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation.


name: Focal sensory seizure with olfactory features

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


name: Focal sensory seizure with somatosensory features

description: A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation.


name: Focal sensory seizure with visual features

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


Focal myoclonic seizure

description: A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.


Focal tonic seizure

description: A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes.


Focal seizure with eyelid myoclonia

description: Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures.


Generalized clonic seizure

description: Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups.


Simple febrile seizure

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


Complex febrile seizure

description: A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period.


Focal behavior arrest seizure

description: A type of focal non-motor seizure characterized by an arrest or pause of activities, freezing, or immobilization as the predominant semiological feature throughout the seizure.


Focal hyperkinetic seizure

description: A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements.


Focal motor seizure with version

description: A type of focal motor seizure characterized by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation.


EEG with constitutional variants

description: An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic.


EEG with 4-5/second background activity

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


Alpha-EEG

description: EEG dominated by diffuse alpha-waves (8-13Hz).


Beta-EEG

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


Partial beta-EEG

description: EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz).


Low voltage EEG

description: EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz).


Interictal epileptiform activity

description: Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure.


name: EEG with hyperventilation-induced focal epileptiform discharges

description: Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


name: EEG with hyperventilation-induced generalized epileptiform discharges

description: Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


EEG with focal epileptiform discharges

description: EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


name: Focal epileptiform discharges with limited propagation to contralateral hemisphere

description: Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization.


name: Focal EEG discharges with propagation to ipsilateral hemisphere

description: Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain.


name: Focal EEG discharges with secondary generalization

description: Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp.


name: Bilateral multifocal epileptiform discharges

description: Epileptiform discharges being identified at multiple locations in both hemispheres.


name: Uni- and bilateral multifocal epileptiform discharges

description: Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere.


name: Unilateral multifocal epileptiform discharges

description: Epileptiform discharges being identified at multiple locations in one hemisphere.


name: Polymorphic focal epileptiform discharges

description: Focal epileptiform discharges of different shapes and frequencies.


EEG with focal spikes

description: EEG with focal sharp transient waves of a duration less than 80 msec.


EEG with series of focal spikes

description: Focal spikes occurring for several seconds.


EEG with focal sharp slow waves

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


EEG with focal sharp waves

description: EEG with focal sharp transient waves of a duration between 80 and 200 msec.


EEG with focal spike waves

description: EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave.


name: EEG with generalized epileptiform discharges

description: EEG discharges recorded on the entire scalp typically seen in persons with epilepsy.


EEG with generalized sharp slow waves

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


name: EEG with generalized polymorphic epileptiform discharges

description: Generalized epileptiform discharges of different shapes and frequencies.


EEG with changes in voltage

description: EEG with abnormal amplitude.


EEG with diffuse acceleration

description: EEG frequency is abnormally increased.


EEG with abnormally slow frequencies

description: EEG with abnormally slow frequencies.


EEG with continuous slow activity

description: EEG showing diffuse slowing without interruption.


EEG with intermittent slow activity

description: Non-continuous diffuse slowing of electroencephalographic patterns.


name: EEG with generalized slow activity grade 1

description: Slowing at frequencies between 7.5 and 8.5 Hz.


name: EEG with generalized slow activity grade 2

description: Generalized slowing of EEG activity at frequencies between 4-7 Hz.


name: EEG with generalized slow activity grade 3

description: Generalized slowing of EEG activity at frequencies between 0.5-3 Hz.


name: EEG with generalized slow activity grade 4

description: EEG without electrical activity.


EEG with occipital slowing

description: Slowing in occipital areas of the scalp EEG.


name: EEG with photoparoxysmal response grade I

description: Occurrence of epileptiform discharges in occipital regions during photic stimulation.


name: EEG with photoparoxysmal response grade II

description: Occurence of epileptiform discharges in occipital and central regions during photic stimulation.


name: EEG with photoparoxysmal response grade III

description: Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation.


name: EEG with photoparoxysmal response grade IV

description: Occurrence of generalized epileptiform discharges during photic stimulation.


Hemihypsarrhythmia

description: Hypsarrhythmia occurring in one hemisphere.


Abnormal shape of the occiput

description: An abnormal shape of occiput.


Abnormal shape of the frontal region

description: An abnormal shape of the frontal part of the head.


Short face

description: Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective).


Prominent forehead

description: Forward prominence of the entire forehead, due to protrusion of the frontal bone.


Vertical forehead creases

description: Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression or when the face is at rest.


Depressed glabella

description: Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges.


Metopic depression

description: Linear vertical groove in the midline of the forehead, extending from hairline to glabella.


Ablepharon

description: Absent eyelids.


Aplasia/Hypoplasia of the eyelid

description: Absence or underdevelopment of the eyelid.


name: Elevated circulating C-reactive protein concentration

description: An abnormal elevation of the C-reactive protein level in the blood circulation.


Horizontal eyebrow

description: An eyebrow that extends straight across the brow, without curve.


Broad eyebrow

description: Regional increase in the width (height) of the eyebrow.


Laterally extended eyebrow

description: An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location.


Prominent eyelashes

description: Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly.


Infra-orbital fold

description: Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge.


Antihelical shelf

description: Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha.


Absent antihelix

description: No discernible ridge between concha and triangular fossa and helix.


Additional crus of antihelix

description: Supernumerary ridge or crus of the ear arising from the antihelix.


Angulated antihelix

description: Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc.


Broad inferior crus of antihelix

description: Increased width of the inferred cross-section of the inferior crus.


Prominent inferior crus of antihelix

description: Increased protrusion of the inferior crus relative to the prominence of the antihelix stem.


name: Underdeveloped inferior crus of antihelix

description: Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem.


Prominent stem of antihelix

description: Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix.


Serpiginous stem of antihelix

description: Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha.


Underdeveloped stem of antihelix

description: Decreased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of a normal helix.


name: Abnormality of inferior crus of antihelix

description: An abnormality of the inferior crus of the antihelix is the lower cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa.


Abnormality of stem of antihelix

description: An abnormality of the stem of the antihelix, which is the part below the bifurcation of the antihelix into the inferior and superior crura.


name: Abnormality of superior crus of antihelix

description: An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa.


name: Underdeveloped superior crus of antihelix

description: Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem.


Prominent superior crus of antihelix

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


Everted antitragus

description: Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear).


Absent antitragus

description: Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.


Bifid antitragus

description: Double rather than single peak of the antitragus.


Underdeveloped antitragus

description: Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.


Cryptotia

description: Invagination of the superior part of the auricle under a fold of temporal skin.


Type I cryptotia

description: A type of cryptotia associated with reduction in size of the antihelix and superior crus.


Type II cryptotia

description: A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected.


Absent crus of helix

description: Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha.


Crus of helix connected to antihelix

description: Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix.


Serpiginous crus of helix

description: Curving course of the crus of the helix, approaching or joining the antitragus.


Tragal bridge of crus of helix

description: The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix.


name: Expanded terminal portion of crus of helix

description: Widening, rather than tapering, of the crus at its posterior border near the antihelix.


Darwin notch of helix

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


Darwin tubercle of helix

description: Small expansion of the helical fold at the junction of the superior and descending portions of the helix.


Crimped helix

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


Forward facing earlobe

description: Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear.


Discontinuous ascending root of helix

description: Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid.


Cleft earlobe

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


Microtia, first degree

description: Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean.


Microtia, third degree

description: Presence of some auricular structures, but none of these structures conform to recognized ear components.


Absent tragus

description: 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.


Bifid tragus

description: Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak.


Duplicated tragus

description: A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus.


Prominent tragus

description: Increase posterolateral protrusion of the tragus.


Underdeveloped tragus

description: Decreased posterolateral protrusion of the tragus.


Anisocytosis

description: Abnormally increased variability in the size of erythrocytes.


Recurrent mycobacterial infections

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


name: Recurrent mycobacterium avium complex infections

description: Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection.


name: Abnormality of the urinary system physiology


Intrapulmonary lobar sequestration

description: A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree.


Abnormality of urine bicarbonate level

description: An abnormal amount of hydrogencarbonate in the urine.


name: Abnormality of urine calcium concentration

description: An abnormality of calcium concentration in the urine.


name: Abnormality of urine catecholamine level

description: An abnormal amount of urinary catecholamine concentration.


Abnormal hindbrain morphology

description: An abnormality of the hindbrain, also known as the rhombencephalon.


Abnormal metencephalon morphology

description: An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum.


Short-segment aganglionic megacolon

description: A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid.


Long-segment aganglionic megacolon

description: A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid.


Total colonic aganglionosis

description: A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon.


EEG with occipital sharp slow waves

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


EEG with parietal sharp slow waves

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


EEG with temporal sharp slow waves

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


EEG with frontal sharp slow waves

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


EEG with central sharp slow waves

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


EEG with occipital sharp waves

description: EEG with sharp waves in the occipital region, i.e., sharp transient waves of a duration between 80 and 200 msec.


EEG with central sharp waves

description: EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec.


EEG with frontal sharp waves

description: EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec.


EEG with parietal sharp waves

description: EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec.