From HPO
Abnormality of the urinary system- MedGen UID:
- 867444
- •Concept ID:
- C4021821
- •
- Disease or Syndrome
An abnormality of the urinary system.
Abnormal renal morphology- MedGen UID:
- 1633142
- •Concept ID:
- C4551596
- •
- Anatomical Abnormality
Any structural anomaly of the kidney.
Pes planus- MedGen UID:
- 42034
- •Concept ID:
- C0016202
- •
- Anatomical Abnormality
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Brachydactyly- MedGen UID:
- 67454
- •Concept ID:
- C0221357
- •
- Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Broad palm- MedGen UID:
- 75535
- •Concept ID:
- C0264142
- •
- Congenital Abnormality
For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.
Short palm- MedGen UID:
- 334684
- •Concept ID:
- C1843108
- •
- Finding
Short palm.
Abnormal forearm morphology- MedGen UID:
- 871189
- •Concept ID:
- C4025666
- •
- Anatomical Abnormality
An abnormality of the lower arm.
Abnormal heart morphology- MedGen UID:
- 6748
- •Concept ID:
- C0018798
- •
- Congenital Abnormality
Any structural anomaly of the heart.
Abnormal cardiovascular system morphology- MedGen UID:
- 892473
- •Concept ID:
- C4049796
- •
- Congenital Abnormality
Any structural anomaly of the heart and blood vessels.
Increased body weight- MedGen UID:
- 12145
- •Concept ID:
- C0043094
- •
- Finding
Abnormally increased body weight.
Short stature- MedGen UID:
- 87607
- •Concept ID:
- C0349588
- •
- Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Constipation- MedGen UID:
- 1101
- •Concept ID:
- C0009806
- •
- Sign or Symptom
Infrequent or difficult evacuation of feces.
Hearing impairment- MedGen UID:
- 235586
- •Concept ID:
- C1384666
- •
- Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Abnormality of the outer ear- MedGen UID:
- 335428
- •Concept ID:
- C1846460
- •
- Anatomical Abnormality
An abnormality of the external ear.
Abnormal middle ear morphology- MedGen UID:
- 387824
- •Concept ID:
- C1857456
- •
- Anatomical Abnormality
An abnormality of the morphology or structure of the middle ear.
Head-banging- MedGen UID:
- 42337
- •Concept ID:
- C0018672
- •
- Mental or Behavioral Dysfunction
Habitual striking of one's own head against a surface such as a mattress or wall of a crib.
Peripheral neuropathy- MedGen UID:
- 18386
- •Concept ID:
- C0031117
- •
- Disease or Syndrome
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Hyperacusis- MedGen UID:
- 20497
- •Concept ID:
- C0034880
- •
- Sign or Symptom
Over-sensitivity to certain frequency ranges of sound.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Self-mutilation- MedGen UID:
- 19925
- •Concept ID:
- C0036601
- •
- Injury or Poisoning
Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die.
Sleep abnormality- MedGen UID:
- 52372
- •Concept ID:
- C0037317
- •
- Sign or Symptom
An abnormal pattern in the quality, quantity, or characteristics of sleep.
Motor stereotypies- MedGen UID:
- 21318
- •Concept ID:
- C0038271
- •
- Individual Behavior
Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.
EEG abnormality- MedGen UID:
- 56235
- •Concept ID:
- C0151611
- •
- Finding
Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.
Atypical behavior- MedGen UID:
- 535345
- •Concept ID:
- C0233514
- •
- Mental or Behavioral Dysfunction
Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.
Onychotillomania- MedGen UID:
- 65438
- •Concept ID:
- C0233623
- •
- Mental or Behavioral Dysfunction
Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails.
Areflexia- MedGen UID:
- 115943
- •Concept ID:
- C0234146
- •
- Finding
Absence of neurologic reflexes such as the knee-jerk reaction.
Pain insensitivity- MedGen UID:
- 488855
- •Concept ID:
- C0344307
- •
- Finding
Inability to perceive painful stimuli.
Hyperactivity- MedGen UID:
- 98406
- •Concept ID:
- C0424295
- •
- Finding
Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.
Delayed speech and language development- MedGen UID:
- 105318
- •Concept ID:
- C0454644
- •
- Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Global developmental delay- MedGen UID:
- 107838
- •Concept ID:
- C0557874
- •
- Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Hyporeflexia- MedGen UID:
- 195967
- •Concept ID:
- C0700078
- •
- Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Impaired pain sensation- MedGen UID:
- 373348
- •Concept ID:
- C1837522
- •
- Finding
Reduced ability to perceive painful stimuli.
Abnormal nerve conduction velocity- MedGen UID:
- 355800
- •Concept ID:
- C1866772
- •
- Finding
Ventriculomegaly- MedGen UID:
- 480553
- •Concept ID:
- C3278923
- •
- Finding
An increase in size of the ventricular system of the brain.
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Sleep-wake inversion- MedGen UID:
- 1644493
- •Concept ID:
- C4703574
- •
- Finding
A reversal of sleeping habits, with a tendency to sleep during the day and be awake at night.
Polyembolokoilamania- MedGen UID:
- 1701959
- •Concept ID:
- C5139392
- •
- Mental or Behavioral Dysfunction
Habitual insertion of foreign bodies into bodily orifices.
Self hugging- MedGen UID:
- 1702098
- •Concept ID:
- C5139398
- •
- Mental or Behavioral Dysfunction
Involuntary, tic-like movements consisted of crossing both arms across the chest and tensing the body or clasping the hands and squeezing the arms to the sides. The movements last a few seconds and may occur in series or flurries, generally accompanied by facial grimacing and occasional grunting.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Brachycephaly- MedGen UID:
- 113165
- •Concept ID:
- C0221356
- •
- Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Malar flattening- MedGen UID:
- 347616
- •Concept ID:
- C1858085
- •
- Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Generalized hypotonia- MedGen UID:
- 346841
- •Concept ID:
- C1858120
- •
- Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Abnormal tracheobronchial morphology- MedGen UID:
- 867271
- •Concept ID:
- C4021631
- •
- Anatomical Abnormality
Abnormality of the larynx- MedGen UID:
- 867407
- •Concept ID:
- C4021777
- •
- Anatomical Abnormality
An abnormality of the larynx.
Abnormality of the immune system- MedGen UID:
- 867388
- •Concept ID:
- C4021753
- •
- Pathologic Function
An abnormality of the immune system.
Hypercholesterolemia- MedGen UID:
- 5687
- •Concept ID:
- C0020443
- •
- Disease or Syndrome
An increased concentration of cholesterol in the blood.
Hypertriglyceridemia- MedGen UID:
- 167238
- •Concept ID:
- C0813230
- •
- Finding
An abnormal increase in the level of triglycerides in the blood.
Hoarse voice- MedGen UID:
- 5602
- •Concept ID:
- C0019825
- •
- Sign or Symptom
Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.
Velopharyngeal insufficiency- MedGen UID:
- 52992
- •Concept ID:
- C0042454
- •
- Finding
Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.
Abnormality of the dentition- MedGen UID:
- 78084
- •Concept ID:
- C0262444
- •
- Finding
Any abnormality of the teeth.
Mandibular prognathia- MedGen UID:
- 98316
- •Concept ID:
- C0399526
- •
- Finding
Abnormal prominence of the chin related to increased length of the mandible.
Prominent forehead- MedGen UID:
- 373291
- •Concept ID:
- C1837260
- •
- Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Wide nasal bridge- MedGen UID:
- 341441
- •Concept ID:
- C1849367
- •
- Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Midface retrusion- MedGen UID:
- 339938
- •Concept ID:
- C1853242
- •
- Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Broad face- MedGen UID:
- 349223
- •Concept ID:
- C1859680
- •
- Finding
Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective).
Orofacial cleft- MedGen UID:
- 472000
- •Concept ID:
- C3266076
- •
- Congenital Abnormality
The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.
Everted upper lip vermilion- MedGen UID:
- 869272
- •Concept ID:
- C4023698
- •
- Finding
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.
Synophrys- MedGen UID:
- 98132
- •Concept ID:
- C0431447
- •
- Congenital Abnormality
Meeting of the medial eyebrows in the midline.
Abnormality of the thyroid gland- MedGen UID:
- 1378579
- •Concept ID:
- C4317107
- •
- Finding
An abnormality of the thyroid gland.
Retinal detachment- MedGen UID:
- 19759
- •Concept ID:
- C0035305
- •
- Disease or Syndrome
Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (summary by McNiel and McPherson, 1971).
Deeply set eye- MedGen UID:
- 473112
- •Concept ID:
- C0423224
- •
- Finding
An eye that is more deeply recessed into the plane of the face than is typical.
Abnormality of the eye- MedGen UID:
- 1370071
- •Concept ID:
- C4316870
- •
- Anatomical Abnormality
Any abnormality of the eye, including location, spacing, and intraocular abnormalities.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the endocrine system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Abnormality of the voice
- Ear malformation
- Growth abnormality