From HPO
Ankle clonus- MedGen UID:
- 68672
- •Concept ID:
- C0238651
- •
- Finding
Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.
Limb muscle weakness- MedGen UID:
- 107956
- •Concept ID:
- C0587246
- •
- Finding
Reduced strength and weakness of the muscles of the arms and legs.
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).
Hemiparesis- MedGen UID:
- 6783
- •Concept ID:
- C0018989
- •
- Finding
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.
Tetraparesis- MedGen UID:
- 78731
- •Concept ID:
- C0270790
- •
- Finding
Weakness of all four 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.
Bulbar palsy- MedGen UID:
- 898626
- •Concept ID:
- C4082299
- •
- Disease or Syndrome
Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia.
Spondyloepiphyseal dysplasia- MedGen UID:
- 20916
- •Concept ID:
- C0038015
- •
- Finding
A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).
Spondylolysis- MedGen UID:
- 21294
- •Concept ID:
- C0038018
- •
- Disease or Syndrome
Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma.
Joint laxity- MedGen UID:
- 39439
- •Concept ID:
- C0086437
- •
- Finding
Lack of stability of a joint.
Hand muscle atrophy- MedGen UID:
- 116091
- •Concept ID:
- C0239830
- •
- Finding
Muscular atrophy involving the muscles of the hand.
Atlantoaxial dislocation- MedGen UID:
- 82672
- •Concept ID:
- C0263905
- •
- Injury or Poisoning
Partial dislocation of the atlantoaxial joint.
Atlantoaxial instability- MedGen UID:
- 98381
- •Concept ID:
- C0410653
- •
- Disease or Syndrome
Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly.
Delayed skeletal maturation- MedGen UID:
- 108148
- •Concept ID:
- C0541764
- •
- Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Lumbar hyperlordosis- MedGen UID:
- 263149
- •Concept ID:
- C1184923
- •
- Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Hypoplasia of the capital femoral epiphysis- MedGen UID:
- 374176
- •Concept ID:
- C1839254
- •
- Finding
Underdevelopment of the proximal epiphysis of the femur.
Os odontoideum- MedGen UID:
- 488994
- •Concept ID:
- C2919848
- •
- Disease or Syndrome
Separation of the odontoid process from the body of the axis.
Spondylolisthesis at L5-S1- MedGen UID:
- 477430
- •Concept ID:
- C3275799
- •
- Finding
Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1).
Respiratory failure- MedGen UID:
- 257837
- •Concept ID:
- C1145670
- •
- Disease or Syndrome
A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.
Tongue fasciculations- MedGen UID:
- 65987
- •Concept ID:
- C0239548
- •
- Finding
Fasciculations or fibrillation affecting the tongue muscle.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Growth abnormality