From HPO
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.
Wrist drop- MedGen UID:
- 533950
- •Concept ID:
- C0231666
- •
- Finding
A condition in which the affected individual cannot extend the wrist, which hangs flaccidly.
Absent Achilles reflex- MedGen UID:
- 108240
- •Concept ID:
- C0558845
- •
- Finding
Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.
Weakness of the intrinsic hand muscles- MedGen UID:
- 322432
- •Concept ID:
- C1834536
- •
- Finding
Foot dorsiflexor weakness- MedGen UID:
- 356163
- •Concept ID:
- C1866141
- •
- Finding
Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.
Weak grip- MedGen UID:
- 1720697
- •Concept ID:
- C2126089
- •
- Sign or Symptom
Reduced grip strength. Gripping is the motion by which the hand tightly grasps an object or other hand.
Distal upper limb muscle weakness- MedGen UID:
- 461970
- •Concept ID:
- C3150620
- •
- Finding
Reduced strength of the distal musculature of the arms.
Patent ductus arteriosus- MedGen UID:
- 4415
- •Concept ID:
- C0013274
- •
- Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
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.
Areflexia- MedGen UID:
- 115943
- •Concept ID:
- C0234146
- •
- Finding
Absence of neurologic reflexes such as the knee-jerk reaction.
Delayed ability to walk- MedGen UID:
- 66034
- •Concept ID:
- C0241726
- •
- Finding
A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
Distal sensory impairment- MedGen UID:
- 335722
- •Concept ID:
- C1847584
- •
- Finding
An abnormal reduction in sensation in the distal portions of the extremities.
Impaired distal vibration sensation- MedGen UID:
- 381262
- •Concept ID:
- C1853767
- •
- Finding
A decrease in the ability to perceive vibration in the distal portions of the limbs.
Brisk reflexes- MedGen UID:
- 382164
- •Concept ID:
- C2673700
- •
- Finding
Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.
Decreased compound muscle action potential amplitude- MedGen UID:
- 908357
- •Concept ID:
- C4230625
- •
- Finding
Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Muscle spasm- MedGen UID:
- 52431
- •Concept ID:
- C0037763
- •
- Sign or Symptom
Sudden and involuntary contractions of one or more muscles.
Wrist flexion contracture- MedGen UID:
- 592338
- •Concept ID:
- C0409345
- •
- Acquired Abnormality
A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.
Weakness of facial musculature- MedGen UID:
- 98103
- •Concept ID:
- C0427055
- •
- Disease or Syndrome
Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
Distal lower limb amyotrophy- MedGen UID:
- 324515
- •Concept ID:
- C1836451
- •
- Disease or Syndrome
Muscular atrophy of distal leg muscles.
Distal amyotrophy- MedGen UID:
- 338530
- •Concept ID:
- C1848736
- •
- Disease or Syndrome
Muscular atrophy affecting muscles in the distal portions of the extremities.
Distal upper limb amyotrophy- MedGen UID:
- 867223
- •Concept ID:
- C4021581
- •
- Disease or Syndrome
Muscular atrophy of distal arm muscles.
Hypernasal speech- MedGen UID:
- 107884
- •Concept ID:
- C0566620
- •
- Finding
A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.
- Abnormality of limbs
- Abnormality of the cardiovascular system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the voice